"HGNC ID" "Approved symbol" diseaseName MONDO Source 10000 RGS4 "Bipolar Disorders" MONDO_0004985 "Disgenet " 10001 RGS5 Schizophrenias MONDO_0005090 "Disgenet " 10001 RGS5 "Essential hypertension" MONDO_0007781 "Disgenet " 10001 RGS5 "High blood pressure" MONDO_0005044 "Disgenet " 10004 RGS9 Schizophrenias MONDO_0005090 "Disgenet " 10004 RGS9 bradyopsia MONDO:0012033 "ClinGen " 10006 RHAG "STOMATOCYTOSIS I" MONDO_0008493 "Disgenet " 10006 RHAG "RH DEFICIENCY SYNDROME" MONDO_0019107 "Disgenet " 10006 RHAG "Anemia, Hemolytic" MONDO_0003664 "Disgenet " 1001 BCL6 "Lymphoma, T Cell" MONDO_0015760 "Disgenet " 1001 BCL6 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 1001 BCL6 "B Cell Lymphoma" MONDO_0015759 "Disgenet " 1001 BCL6 "Mediastinal (thymic) large B-cell lymphoma" MONDO_0020323 "Disgenet " 1001 BCL6 "Brill Symmers Disease" MONDO_0018906 "Disgenet " 1001 BCL6 "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 10011 RHEB "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 10011 RHEB hemimegalencephaly MONDO_0020492 "Disgenet " 10011 RHEB FCDT MONDO_0011818 "Disgenet " 10012 RHO "rod cone dystrophy" MONDO_0015993 "Disgenet " 10012 RHO "RETINITIS PIGMENTOSA 4" MONDO_0013395 "Disgenet " 10012 RHO "NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1" MONDO_0012498 "Disgenet " 10012 RHO "FUNDUS ALBIPUNCTATUS" MONDO_0007639 "Disgenet " 10012 RHO "Autosomal recessive retinitis pigmentosa" "Disgenet " 10012 RHO "Night Blindness" MONDO_0004588 "Disgenet " 10012 RHO "CSNB - Congenital stationary night blindness" MONDO_0016293 "Disgenet " 10012 RHO "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 10012 RHO "inherited retinal dystrophy" MONDO:0019118 "ClinGen " 10012 RHO "Retinal dystrophy" MONDO_0019118 "Disgenet " 10012 RHO "RETINITIS PUNCTATA ALBESCENS" MONDO_0018877 "Disgenet " 10012 RHO "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 10012 RHO "RETINITIS PIGMENTOSA 1" MONDO_0019200 "Disgenet " 10012 RHO "Congenital night blindness" MONDO_0004587 "Disgenet " 10012 RHO Blindness MONDO_0001941 "Disgenet " 10013 GRK1 "Night Blindness" MONDO_0004588 "Disgenet " 10013 GRK1 "OGUCHI DISEASE 2" MONDO_0013259 "Disgenet " 10013 GRK1 "Congenital night blindness" MONDO_0004587 "Disgenet " 10013 GRK1 "CSNB - Congenital stationary night blindness" MONDO_0016293 "Disgenet " 10013 GRK1 "Oguchi disease" MONDO:0019152 "ClinGen " 10019 RIPK1 "Primary immunodeficiency syndromes" MONDO_0003778 "Disgenet " 10020 RIPK2 "Ulcerative colitis" MONDO_0005101 "Disgenet " 10021 RIPK3 "Fatty Liver" MONDO_0004790 "Disgenet " 10023 RIT1 "Noonan syndrome" MONDO:0018997 "ClinGen " 10023 RIT1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 10023 RIT1 "NOONAN SYNDROME 8" MONDO_0014143 "Disgenet " 10023 RIT1 "Noonan Syndrome" MONDO_0018997 "Disgenet " 10023 RIT1 RASopathy MONDO_0021060 "Disgenet " 10047 RNASE4 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 10050 RNASEL "Cancer, Ovarian" MONDO_0008170 "Disgenet " 10050 RNASEL "Hereditary prostate cancer" MONDO_0023122 "Disgenet " 10050 RNASEL "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 10050 RNASEL "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 10057 RNF13 EIEE73 MONDO_0034106 "Disgenet " 10062 RNF20 "Cancer, Breast" MONDO_0007254 "Disgenet " 10069 RNF6 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 1008 BCL9 "congenital heart disease" MONDO:0005453 "ClinGen " 1008 BCL9 Schizophrenias MONDO_0005090 "Disgenet " 10080 RNPS1 "Affective Disorders" MONDO_0005371 "Disgenet " 1012 OPN1SW "Dyschromatopsia, blue-yellow" MONDO_0008610 "Disgenet " 1014 BCR "Blast Crises" MONDO_0006115 "Disgenet " 1014 BCR "Depressions, Unipolar" MONDO_0002050 "Disgenet " 1014 BCR "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 1014 BCR "Myeloid neoplasia" MONDO_0005170 "Disgenet " 1014 BCR "Bipolar Disorders" MONDO_0004985 "Disgenet " 1014 BCR "Precursor T-cell lymphoblastic leukaemia" MONDO_0020512 "Disgenet " 1014 BCR "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 1014 BCR ALL MONDO_0004967 "Disgenet " 1014 BCR Leukemias MONDO_0005059 "Disgenet " 1020 BCS1L FLNMS MONDO_0011308 "Disgenet " 1020 BCS1L "Mitochondrial Complex III Deficiency" MONDO_0015448 "Disgenet " 1020 BCS1L "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1" MONDO_0007415 "Disgenet " 1020 BCS1L "Leigh syndrome" MONDO:0009723 "ClinGen " 1020 BCS1L "Bjornstad syndrome" MONDO:0009872 "ClinGen " 1020 BCS1L BJS MONDO_0009872 "Disgenet " 10249 ROBO1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 10249 ROBO1 "Childhood autism" MONDO_0005260 "Disgenet " 10249 ROBO1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 10249 ROBO1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 10249 ROBO1 "Fallot Tetralogy" MONDO_0008542 "Disgenet " 10249 ROBO1 "Cancer, Breast" MONDO_0007254 "Disgenet " 10249 ROBO1 "Pituitary Stalk Interruption Syndrome" MONDO_0019828 "Disgenet " 10249 ROBO1 "congenital heart disease" MONDO:0005453 "ClinGen " 10249 ROBO1 "congenital heart disease" MONDO:0005453 "ClinGen " 10249 ROBO1 "NYSTAGMUS 8, CONGENITAL, AUTOSOMAL RECESSIVE" MONDO_0009762 "Disgenet " 10250 ROBO2 "VESICOURETERAL REFLUX 2" MONDO_0012573 "Disgenet " 10250 ROBO2 "Familial vesicoureteral reflux" MONDO_0017329 "Disgenet " 10250 ROBO2 "Childhood autism" MONDO_0005260 "Disgenet " 10250 ROBO2 Cakut MONDO_0019719 "Disgenet " 10250 ROBO2 "Reflux, Vesico-Ureteral" MONDO_0006007 "Disgenet " 10251 ROCK1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 10251 ROCK1 "CARCINOMA OF LUNG" MONDO_0005138 "Disgenet " 10252 ROCK2 "congenital heart disease" MONDO:0005453 "ClinGen " 10252 ROCK2 "Congestive heart failure" MONDO_0005252 "Disgenet " 10252 ROCK2 "Heart failure" MONDO_0005252 "Disgenet " 10254 ROM1 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 10254 ROM1 "Macular dystrophy" "Disgenet " 10254 ROM1 "Retinal dystrophy" MONDO_0019118 "Disgenet " 10257 ROR2 "Robinow syndrome, autosomal recessive" MONDO_0009999 "Disgenet " 10257 ROR2 "COVESDEM SYNDROME, FORMERLY" MONDO_0009999 "Disgenet " 10257 ROR2 BDB1 MONDO_0007220 "Disgenet " 10257 ROR2 "Cleft Palate" MONDO_0016064 "Disgenet " 10258 RORA "Bipolar Disorders" MONDO_0004985 "Disgenet " 10258 RORA "Childhood autism" MONDO_0005260 "Disgenet " 10258 RORA "Depressive neurosis" MONDO_0002050 "Disgenet " 10258 RORA Depression MONDO_0002050 "Disgenet " 10258 RORA "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 10258 RORA "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 10259 RORB "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 10260 RORC "IMMUNODEFICIENCY 42" MONDO_0014710 "Disgenet " 10274 RP2 "RP2-related retinopathy" MONDO:0100442 "ClinGen " 10274 RP2 RP2 MONDO_0010723 "Disgenet " 10274 RP2 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 10274 RP2 "retinitis pigmentosa x-linked (diagnosis)" "Disgenet " 10288 RP9 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 10288 RP9 "retinitis pigmentosa 9" MONDO:0008378 "ClinGen " 10288 RP9 "RETINITIS PIGMENTOSA 9" MONDO_0008378 "Disgenet " 10295 RPGR "Degeneration, Macular" MONDO_0003004 "Disgenet " 10295 RPGR "RPGR-related retinopathy" MONDO:0100437 "ClinGen " 10295 RPGR "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 10295 RPGR "Retinal dystrophy" MONDO_0019118 "Disgenet " 10295 RPGR "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 10295 RPGR "Infection, Respiratory Tract" MONDO_0024355 "Disgenet " 10295 RPGR RP15 MONDO_0010227 "Disgenet " 10295 RPGR "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 10295 RPGR "Macular dystrophy" "Disgenet " 10295 RPGR "dystrophy cone" MONDO_0000455 "Disgenet " 10295 RPGR "Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness" "Disgenet " 10295 RPGR "RETINITIS PIGMENTOSA 1" MONDO_0019200 "Disgenet " 10295 RPGR CORDX1 MONDO_0010566 "Disgenet " 10295 RPGR "Ciliary Dyskinesias" MONDO_0016575 "Disgenet " 10297 RPIA "RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY" MONDO_0012073 "Disgenet " 10298 RPL10 "Childhood autism" MONDO_0005260 "Disgenet " 10298 RPL10 "X-linked syndromic intellectual disability" MONDO:0020119 "ClinGen " 10298 RPL10 MRXS35 MONDO_0030908 "Disgenet " 103 CNNM2 Schizophrenias MONDO_0005090 "Disgenet " 103 CNNM2 "HYPOMAGNESEMIA 6, RENAL" MONDO_0013480 "Disgenet " 103 CNNM2 HYPOMAGNESEMIA MONDO_0018100 "Disgenet " 103 CNNM2 "hypomagnesemia, seizures, and intellectual disability 1" MONDO:0020787 "ClinGen " 1030 BDKRB2 "Temporal lobe epilepsy" MONDO_0005115 "Disgenet " 1030 BDKRB2 Asthma MONDO_0004979 "Disgenet " 1030 BDKRB2 "High blood pressure" MONDO_0005044 "Disgenet " 1030 BDKRB2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 10301 RPL11 Anemia MONDO_0002280 "Disgenet " 10301 RPL11 "DIAMOND-BLACKFAN ANEMIA 7" MONDO_0012938 "Disgenet " 10301 RPL11 "Aase syndrome" MONDO_0012937 "Disgenet " 10301 RPL11 "Anemia, Diamond Blackfan" MONDO_0015253 "Disgenet " 10303 RPL13 SEMDIST MONDO_0018254 "Disgenet " 10303 RPL13 "Spondyloepimetaphyseal dysplasia" MONDO_0100510 "Disgenet " 10306 RPL15 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 10310 RPL18 DBA18 MONDO_0032668 "Disgenet " 10313 RPL21 "HYPOTRICHOSIS 12" MONDO_0014384 "Disgenet " 1033 BDNF "Bipolar Depression" MONDO_0004985 "Disgenet " 1033 BDNF "WAGR Syndrome" MONDO_0008681 "Disgenet " 1033 BDNF "Alcoholic Intoxication" "Disgenet " 1033 BDNF "Cocaine dependence" MONDO_0005186 "Disgenet " 1033 BDNF "Abuse, Alcohol" MONDO_0002046 "Disgenet " 1033 BDNF "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 1033 BDNF "Drug-induced depressive state" "Disgenet " 1033 BDNF "Unspecified mental retardation" MONDO_0001071 "Disgenet " 1033 BDNF "Atopic Eczema" MONDO_0011292 "Disgenet " 1033 BDNF "Depressions, Unipolar" MONDO_0002050 "Disgenet " 1033 BDNF "Status Epilepticus" MONDO_0002125 "Disgenet " 1033 BDNF "Post-traumatic stress disorder" MONDO_0005146 "Disgenet " 1033 BDNF "Brain Injuries" MONDO_0043510 "Disgenet " 1033 BDNF "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 1033 BDNF Asthma MONDO_0004979 "Disgenet " 1033 BDNF "Disorders, Obsessive-Compulsive" MONDO_0008114 "Disgenet " 1033 BDNF Epilepsies MONDO_0005027 "Disgenet " 1033 BDNF "Heroin Dependence" MONDO_0005367 "Disgenet " 1033 BDNF "Childhood autism" MONDO_0005260 "Disgenet " 1033 BDNF "Obstructive sleep apnea syndrome" MONDO_0007147 "Disgenet " 1033 BDNF "Diseases, Nervous System" MONDO_0005071 "Disgenet " 1033 BDNF Alcoholism MONDO_0002046 "Disgenet " 1033 BDNF Depression MONDO_0002050 "Disgenet " 1033 BDNF "Chorea, Huntington" MONDO_0011671 "Disgenet " 1033 BDNF "Depressive neurosis" MONDO_0002050 "Disgenet " 1033 BDNF Glaucomas MONDO_0005041 "Disgenet " 1033 BDNF "Affective Disorders" MONDO_0005371 "Disgenet " 1033 BDNF "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 1033 BDNF Obesity MONDO_0019182 "Disgenet " 1033 BDNF "Parkinson Disease" MONDO_0014796 "Disgenet " 1033 BDNF Schizophrenias MONDO_0005090 "Disgenet " 1033 BDNF "Bipolar Disorders" MONDO_0004985 "Disgenet " 1033 BDNF "Alzheimer Disease" MONDO_0012630 "Disgenet " 1033 BDNF "Morbid Obesities" MONDO_0005139 "Disgenet " 1033 BDNF "ISCHEMIC ENCEPH" MONDO_0005299 "Disgenet " 1033 BDNF "Congenital central hypoventilation syndrome" MONDO_0800026 "Disgenet " 1033 BDNF Parkinsonism MONDO_0021095 "Disgenet " 1034 BECN1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 1034 BECN1 "Lewy Body Disease" MONDO_0007488 "Disgenet " 1034 BECN1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 1034 BECN1 "Cord Injuries, Spinal" MONDO_0043797 "Disgenet " 1034 BECN1 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 1034 BECN1 "Disease, Machado-Joseph" MONDO_0007182 "Disgenet " 1034 BECN1 Schizophrenias MONDO_0005090 "Disgenet " 10344 RPL35 "DIAMOND-BLACKFAN ANEMIA 19" MONDO_0032669 "Disgenet " 10345 RPL35A "Aase syndrome" MONDO_0012937 "Disgenet " 10345 RPL35A "Anemia, Diamond Blackfan" MONDO_0015253 "Disgenet " 10345 RPL35A "DIAMOND-BLACKFAN ANEMIA 5" MONDO_0012925 "Disgenet " 10369 RPL9 "Aase syndrome" MONDO_0012937 "Disgenet " 1037 CFB "Glomerulonephritides, Membranoproliferative" MONDO_0018904 "Disgenet " 1037 CFB "Bergers Disease" MONDO_0005342 "Disgenet " 1037 CFB "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 1037 CFB "COMPLEMENT COMPONENT 2 DEFICIENCY" MONDO_0009006 "Disgenet " 1037 CFB "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 1037 CFB "atypical hemolytic-uremic syndrome with B factor anomaly" MONDO:0013042 "ClinGen " 1037 CFB "C3 glomerulonephritis" MONDO:0013892 "ClinGen " 1037 CFB "Non-Shiga-Like Toxin-Associated HUSs" MONDO_0016244 "Disgenet " 1037 CFB "Anterior Uveitides" MONDO_0006651 "Disgenet " 1037 CFB Psoriases MONDO_0005083 "Disgenet " 1037 CFB "Ulcerative colitis" MONDO_0005101 "Disgenet " 1037 CFB "Degeneration, Macular" MONDO_0003004 "Disgenet " 1037 CFB "Anemia, Sickle Cell" MONDO_0011382 "Disgenet " 10378 MRPL12 "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45" MONDO_0033533 "Disgenet " 10379 MRPL3 "mitochondrial disease" MONDO:0044970 "ClinGen " 10379 MRPL3 "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9" MONDO_0013811 "Disgenet " 10388 RPS15 "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 10397 RPS17 "Aase syndrome" MONDO_0012937 "Disgenet " 10397 RPS17 "Anemia, Diamond Blackfan" MONDO_0015253 "Disgenet " 1040 BFSP1 "Congenital cataract" MONDO_0008925 "Disgenet " 1040 BFSP1 CTRCT33 MONDO_0012665 "Disgenet " 10402 RPS19 "Aase syndrome" MONDO_0012937 "Disgenet " 10402 RPS19 BDS MONDO_0015253 "Disgenet " 10402 RPS19 "Anemia, Diamond Blackfan" MONDO_0015253 "Disgenet " 10402 RPS19 "Diamond-Blackfan anemia" MONDO:0015253 "ClinGen " 10405 RPS20 "Lynch syndrome" MONDO:0005835 "ClinGen " 10405 RPS20 FCCTX MONDO_0018604 "Disgenet " 10410 RPS23 MCINS MONDO_0044311 "Disgenet " 10411 RPS24 "Aase syndrome" MONDO_0012937 "Disgenet " 10411 RPS24 "Diamond-Blackfan anemia" MONDO:0015253 "ClinGen " 10411 RPS24 "Anemia, Diamond Blackfan" MONDO_0015253 "Disgenet " 10414 RPS26 "Anemia, Diamond Blackfan" MONDO_0015253 "Disgenet " 10414 RPS26 "Aase syndrome" MONDO_0012937 "Disgenet " 10414 RPS26 "DIAMOND-BLACKFAN ANEMIA 10" MONDO_0013217 "Disgenet " 10419 RPS29 "Aase syndrome" MONDO_0012937 "Disgenet " 10419 RPS29 "DIAMOND-BLACKFAN ANEMIA 13" MONDO_0014394 "Disgenet " 10429 RPS6 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 10429 RPS6 "Breast Neoplasms" MONDO_0021100 "Disgenet " 1043 BGLAP Asthma MONDO_0004979 "Disgenet " 1043 BGLAP "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1043 BGLAP Osteoporoses MONDO_0005298 "Disgenet " 1043 BGLAP "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 1043 BGLAP "Deficiencies, Vitamin K" MONDO_0001244 "Disgenet " 1043 BGLAP "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 10432 RPS6KA3 MRX19 MONDO_0010447 "Disgenet " 10432 RPS6KA3 "Coffin-Lowry syndrome" MONDO:0010561 "ClinGen " 10432 RPS6KA3 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 10432 RPS6KA3 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 10432 RPS6KA3 "COFFIN-LOWRY SYNDROME" MONDO_0010561 "Disgenet " 10432 RPS6KA3 "Glioblastoma multiforme" MONDO_0018177 "Disgenet " 10432 RPS6KA3 MRX1 MONDO_0010656 "Disgenet " 10432 RPS6KA3 "Cancer, Breast" MONDO_0007254 "Disgenet " 10432 RPS6KA3 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 10436 RPS6KB1 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 10436 RPS6KB1 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 10436 RPS6KB1 CRC MONDO_0005335 "Disgenet " 10436 RPS6KB1 "Hypertrophy, Left Ventricular" "Disgenet " 1044 BGN "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED" MONDO_0010248 "Disgenet " 1044 BGN "familial thoracic aortic aneurysm and aortic dissection" MONDO:0019625 "ClinGen " 1044 BGN "MEESTER-LOEYS SYNDROME" MONDO_0010515 "Disgenet " 1044 BGN "Breast Neoplasms" MONDO_0021100 "Disgenet " 1044 BGN "Cancer, Breast" MONDO_0007254 "Disgenet " 10442 RPS9 "Cancer, Breast" MONDO_0007254 "Disgenet " 10445 CNOT9 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 10446 RRAD "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 10446 RRAD "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 10446 RRAD "Breast Neoplasms" MONDO_0021100 "Disgenet " 10447 RRAS "Noonan syndrome" MONDO:0018997 "ClinGen " 10447 RRAS "Noonan Syndrome" MONDO_0018997 "Disgenet " 10447 RRAS JMML MONDO_0011908 "Disgenet " 10451 RRM1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 1046 BHLHE40 "Bipolar Disorders" MONDO_0004985 "Disgenet " 10461 CLIP1 "Cancer, Breast" MONDO_0007254 "Disgenet " 10468 RTN2 "Paraplegias, Spastic" MONDO_0003757 "Disgenet " 10468 RTN2 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 10468 RTN2 SPG12 MONDO_0011489 "Disgenet " 10471 RUNX1 Pancytopenia MONDO_0001529 "Disgenet " 10471 RUNX1 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 10471 RUNX1 Glioblastoma MONDO_0018177 "Disgenet " 10471 RUNX1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 10471 RUNX1 "Aggressive Systemic Mastocytoses" MONDO_0020333 "Disgenet " 10471 RUNX1 "Subacute myeloid leukemia" MONDO_0004653 "Disgenet " 10471 RUNX1 "Acute Myeloid Leukemia with t(8;21)(q22;q22)(AML1(CBFa)/ETO)" MONDO_0850492 "Disgenet " 10471 RUNX1 "Clonal Cytopenia of Undetermined Significance" "Disgenet " 10471 RUNX1 JMML MONDO_0011908 "Disgenet " 10471 RUNX1 "hereditary thrombocytopenia and hematologic cancer predisposition syndrome" MONDO:0011071 "ClinGen " 10471 RUNX1 "Blood Platelet Disorder" MONDO_0002245 "Disgenet " 10471 RUNX1 "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 10471 RUNX1 Myelodysplasia "Disgenet " 10471 RUNX1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 10471 RUNX1 "PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY" MONDO_0100083 "Disgenet " 10471 RUNX1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 10471 RUNX1 Thrombocytopenia MONDO_0002049 "Disgenet " 10471 RUNX1 ALL MONDO_0004967 "Disgenet " 10472 RUNX2 Craniosynostosis MONDO_0015469 "Disgenet " 10472 RUNX2 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 10472 RUNX2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 10472 RUNX2 "Cleidocranial Dysostoses" MONDO_0007340 "Disgenet " 10472 RUNX2 "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 10473 RUNX3 Adenocarcinoma MONDO_0004970 "Disgenet " 10473 RUNX3 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 10473 RUNX3 "Lung Neoplasm" MONDO_0002732 "Disgenet " 10473 RUNX3 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 10473 RUNX3 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 10473 RUNX3 "Ankylosing spondylitis" MONDO_0005306 "Disgenet " 10473 RUNX3 "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 10473 RUNX3 Psoriases MONDO_0005083 "Disgenet " 10473 RUNX3 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 10473 RUNX3 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 10473 RUNX3 "Carcinomas, Infiltrating Duct" MONDO_0005590 "Disgenet " 10473 RUNX3 Glioblastoma MONDO_0018177 "Disgenet " 10473 RUNX3 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 10473 RUNX3 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 10473 RUNX3 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 10473 RUNX3 "Cancer, Breast" MONDO_0007254 "Disgenet " 10473 RUNX3 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 10473 RUNX3 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 10477 RXRA "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 10477 RXRA "Liver cell carcinoma" MONDO_0007256 "Disgenet " 10477 RXRA "congenital heart disease" MONDO:0005453 "ClinGen " 10477 RXRA "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 10477 RXRA "Pancreatic adenocarcinoma" MONDO_0006047 "Disgenet " 10477 RXRA "Neoplasm, Thyroid" MONDO_0015074 "Disgenet " 10478 RXRB "Breast Neoplasms" MONDO_0021100 "Disgenet " 10479 RXRG "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 1048 BHMT2 "Cleft Palate" MONDO_0016064 "Disgenet " 10483 RYR1 "MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE" MONDO_0017415 "Disgenet " 10483 RYR1 Arthrogryposes MONDO_0015168 "Disgenet " 10483 RYR1 "Congenital myopathy with cores" "Disgenet " 10483 RYR1 "RYR1-related myopathy" MONDO:0100150 "ClinGen " 10483 RYR1 "RYR1-related myopathy" MONDO:0100150 "ClinGen " 10483 RYR1 "malignant hyperthermia, susceptibility to, 1" MONDO:0007783 "ClinGen " 10483 RYR1 Myopathy MONDO_0003939 "Disgenet " 10483 RYR1 "King syndrome" MONDO_0020485 "Disgenet " 10483 RYR1 "Multiminicore myopathy" MONDO_0018948 "Disgenet " 10483 RYR1 "Centronuclear myopathy" MONDO_0018947 "Disgenet " 10483 RYR1 "Neuromuscular Disease" MONDO_0019056 "Disgenet " 10483 RYR1 "Congenital myopathies" MONDO_0013177 "Disgenet " 10483 RYR1 "Heart failure" MONDO_0005252 "Disgenet " 10483 RYR1 CFTD MONDO_0800341 "Disgenet " 10483 RYR1 FADS MONDO_0008824 "Disgenet " 10483 RYR1 "Long QT Syndrome" MONDO_0002442 "Disgenet " 10483 RYR1 Scolioses MONDO_0005392 "Disgenet " 10483 RYR1 Blepharoptoses MONDO_0000728 "Disgenet " 10483 RYR1 "Congestive heart failure" MONDO_0005252 "Disgenet " 10483 RYR1 "Multicore Myopathy With External Ophthalmoplegia" MONDO_0018948 "Disgenet " 10483 RYR1 "Central Core Diseases" MONDO_0019952 "Disgenet " 10484 RYR2 Arrhythmia MONDO_0007263 "Disgenet " 10484 RYR2 VTSIP MONDO_0017990 "Disgenet " 10484 RYR2 "Polymorphic catecholergic ventricular tachycardia" MONDO_0017990 "Disgenet " 10484 RYR2 "Ventricular tachycardia" MONDO_0013529 "Disgenet " 10484 RYR2 "Arrhythmogenic right ventricular dysplasia" MONDO_0016587 "Disgenet " 10484 RYR2 "Cardiac Disease" MONDO_0005267 "Disgenet " 10484 RYR2 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 10484 RYR2 "Left ventricular noncompaction" MONDO_0018901 "Disgenet " 10484 RYR2 "Idiopathic ventricular fibrillation" MONDO_0100234 "Disgenet " 10484 RYR2 "VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2" MONDO_0017990 "Disgenet " 10484 RYR2 "Brugada Syndrome" MONDO_0015263 "Disgenet " 10484 RYR2 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 10484 RYR2 Cardiomyopathy MONDO_0004994 "Disgenet " 10484 RYR2 "catecholaminergic polymorphic ventricular tachycardia" MONDO:0017990 "ClinGen " 10484 RYR2 "arrhythmogenic right ventricular cardiomyopathy" MONDO:0016587 "ClinGen " 10484 RYR2 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 10484 RYR2 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 10484 RYR2 "Arrest, Heart" MONDO_0000745 "Disgenet " 10484 RYR2 "Fibrillations, Ventricular" MONDO_0000190 "Disgenet " 10484 RYR2 "Diabetic cardiomyopathy" "Disgenet " 10484 RYR2 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 10484 RYR2 "Polymorphic ventricular tachycardia" MONDO_0020575 "Disgenet " 10484 RYR2 "Long QT Syndrome" MONDO_0002442 "Disgenet " 10484 RYR2 "Congestive heart failure" MONDO_0005252 "Disgenet " 10485 RYR3 "developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 10485 RYR3 "congenital myopathy" MONDO:0019952 "ClinGen " 10485 RYR3 "Congenital myopathies" MONDO_0013177 "Disgenet " 10485 RYR3 CMYP20 MONDO_0957215 "Disgenet " 10487 S100A10 "Depressive neurosis" MONDO_0002050 "Disgenet " 10487 S100A10 Depression MONDO_0002050 "Disgenet " 10487 S100A10 "Depressed mood" "Disgenet " 10487 S100A10 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 10487 S100A10 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 10487 S100A10 "Bipolar Disorders" MONDO_0004985 "Disgenet " 10494 S100A4 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 10494 S100A4 Keloid MONDO_0005348 "Disgenet " 10494 S100A4 "Neuroectodermal Tumor, Primitive" MONDO_0005462 "Disgenet " 10494 S100A4 Medulloblastoma MONDO_0007959 "Disgenet " 10494 S100A4 Melanoma MONDO_0005105 "Disgenet " 10496 S100A6 Carcinoma MONDO_0004993 "Disgenet " 10496 S100A6 Epithelioma MONDO_0004993 "Disgenet " 10496 S100A6 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 10498 S100A8 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 10498 S100A8 "Atopic Eczema" MONDO_0011292 "Disgenet " 10498 S100A8 Myocarditides MONDO_0004496 "Disgenet " 10499 S100A9 Myocarditides MONDO_0004496 "Disgenet " 10499 S100A9 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 105 CNNM4 "JALILI SYNDROME" MONDO_0009007 "Disgenet " 105 CNNM4 "Jalili syndrome" MONDO:0009007 "ClinGen " 1050 BID Schizophrenias MONDO_0005090 "Disgenet " 1050 BID "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1050 BID "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 10500 S100B Schizophrenias MONDO_0005090 "Disgenet " 10500 S100B "Brain Injuries" MONDO_0043510 "Disgenet " 10500 S100B Depression MONDO_0002050 "Disgenet " 10500 S100B "Alzheimer Disease" MONDO_0012630 "Disgenet " 10500 S100B "Parkinson Disease" MONDO_0014796 "Disgenet " 10500 S100B "depression recurrent" "Disgenet " 10500 S100B "Encephalopathies, Hepatic" MONDO_0001711 "Disgenet " 10500 S100B "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 10500 S100B "Depressive neurosis" MONDO_0002050 "Disgenet " 10500 S100B "Bipolar Disorders" MONDO_0004985 "Disgenet " 10500 S100B "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 10500 S100B "Brain Neoplasms" MONDO_0021211 "Disgenet " 10500 S100B "Down Syndrome" MONDO_0008608 "Disgenet " 10500 S100B "Depressions, Unipolar" MONDO_0002050 "Disgenet " 10500 S100B "Affective Disorders" MONDO_0005371 "Disgenet " 1051 BIK "Cancer, Breast" MONDO_0007254 "Disgenet " 1051 BIK "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1051 BIK "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 1051 BIK "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 10513 SAA1 "aa amyloidosis" MONDO_0019439 "Disgenet " 10519 SACS "SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE" MONDO_0010041 "Disgenet " 10519 SACS AR-SPAX MONDO_0017847 "Disgenet " 1052 BIN1 "Cognitive Dysfunction" "Disgenet " 1052 BIN1 "centronuclear myopathy" MONDO:0018947 "ClinGen " 1052 BIN1 "centronuclear myopathy" MONDO:0018947 "ClinGen " 1052 BIN1 "MYOPATHY, CENTRONUCLEAR, 2" MONDO_0015705 "Disgenet " 1052 BIN1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 1052 BIN1 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 1052 BIN1 "Centronuclear myopathy" MONDO_0018947 "Disgenet " 10526 SALL2 Coloboma MONDO_0007350 "Disgenet " 10535 SAR1B "CHYLOMICRON RETENTION DISEASE" MONDO_0009528 "Disgenet " 10536 SARDH Sarcosinaemia MONDO_0010008 "Disgenet " 10536 SARDH sarcosinemia MONDO:0010008 "ClinGen " 10537 SARS1 "neurodevelopmental disorder with microcephaly, ataxia, and seizures" MONDO:0060577 "ClinGen " 10537 SARS1 "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES" MONDO_0060577 "Disgenet " 10540 SAT1 "pediatric systemic lupus erythematosus" MONDO:0019725 "ClinGen " 10540 SAT1 "Depressive neurosis" MONDO_0002050 "Disgenet " 10540 SAT1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 10540 SAT1 Obesity MONDO_0019182 "Disgenet " 10540 SAT1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 10540 SAT1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 10540 SAT1 "Affective Disorders" MONDO_0005371 "Disgenet " 10540 SAT1 Psychosis MONDO_0005485 "Disgenet " 10541 SATB1 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 10541 SATB1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 10542 SBF1 "Charcot-Marie-Tooth disease type 4B3" MONDO:0014117 "ClinGen " 10542 SBF1 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 10542 SBF1 "CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3" MONDO_0014117 "Disgenet " 10545 MSMO1 MCCPD MONDO_0014793 "Disgenet " 10547 SC5D LATHOSTEROLOSIS MONDO_0011816 "Disgenet " 10548 ATXN1 "Ataxia, Spinocerebellar" MONDO_0000437 "Disgenet " 10548 ATXN1 Schizophrenias MONDO_0005090 "Disgenet " 10548 ATXN1 "Degenerative disease of nervous system, unspecified" MONDO_0005559 "Disgenet " 10548 ATXN1 "SPINOCEREBELLAR ATAXIA 1" MONDO_0008119 "Disgenet " 10549 ATXN10 SCA10 MONDO_0011330 "Disgenet " 10555 ATXN2 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 10555 ATXN2 "SPINOCEREBELLAR ATAXIA 2" MONDO_0010065 "Disgenet " 10555 ATXN2 "Ataxia, Spinocerebellar" MONDO_0000437 "Disgenet " 10555 ATXN2 "spinocerebellar ataxia type 2" MONDO:0008458 "ClinGen " 10560 ATXN7 "SPINOCEREBELLAR ATAXIA 7" MONDO_0016163 "Disgenet " 10560 ATXN7 "Ataxia, Spinocerebellar" MONDO_0000437 "Disgenet " 10569 SERPINB3 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 1057 BLK "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 1057 BLK "monogenic diabetes" MONDO:0015967 "ClinGen " 1057 BLK "Kawasaki's disease" MONDO_0012727 "Disgenet " 1057 BLK "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 1057 BLK "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11" MONDO_0013242 "Disgenet " 1057 BLK "Maturity onset diabetes mellitus in young" MONDO_0018911 "Disgenet " 10571 SCD "Liver Neoplasm" MONDO_0002691 "Disgenet " 10571 SCD "Glucose Intolerance" MONDO_0001076 "Disgenet " 10571 SCD Obesity MONDO_0019182 "Disgenet " 10571 SCD "Liver cell carcinoma" MONDO_0007256 "Disgenet " 10571 SCD "Fatty Liver" MONDO_0004790 "Disgenet " 10576 CLEC11A Anemia MONDO_0002280 "Disgenet " 1058 BLM "Familial Malignant Neoplasm" "Disgenet " 1058 BLM "Cancer, Ovarian" MONDO_0008170 "Disgenet " 1058 BLM "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 1058 BLM "colorectal cancer" MONDO:0005575 "ClinGen " 1058 BLM "Bloom syndrome" MONDO:0008876 "ClinGen " 1058 BLM "Bloom Syndrome" MONDO_0008876 "Disgenet " 10583 SCN11A FEPS3 MONDO_0014247 "Disgenet " 10583 SCN11A "Pain Insensitivity, Congenital" MONDO_0012092 "Disgenet " 10583 SCN11A HSAN7 MONDO_0014244 "Disgenet " 10583 SCN11A "obsolete autosomal dominant hereditary sensory and autonomic neuropathy" MONDO:0015365 "ClinGen " 10585 SCN1A "generalized epilepsy with febrile seizures plus" MONDO:0018214 "ClinGen " 10585 SCN1A "Dravet syndrome" MONDO:0100135 "ClinGen " 10585 SCN1A "familial hemiplegic migraine" MONDO:0000700 "ClinGen " 10585 SCN1A "developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 10585 SCN1A "Movement Disorders" MONDO_0005395 "Disgenet " 10585 SCN1A "Astatic Epilepsies, Myoclonic" MONDO_0014633 "Disgenet " 10585 SCN1A "Infantile spasms" MONDO_0018097 "Disgenet " 10585 SCN1A SMEI MONDO_0100079 "Disgenet " 10585 SCN1A "Febrile convulsion" "Disgenet " 10585 SCN1A Epilepsies MONDO_0005027 "Disgenet " 10585 SCN1A "Generalized Epilepsy with Febrile Seizures Plus" MONDO_0018214 "Disgenet " 10585 SCN1A "Childhood autism" MONDO_0005260 "Disgenet " 10585 SCN1A "partial seizure" MONDO_0001386 "Disgenet " 10585 SCN1A "Epilepsies, Myoclonic" MONDO_0016022 "Disgenet " 10585 SCN1A "Hemiplegic migraine" MONDO_0018925 "Disgenet " 10585 SCN1A "GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2" MONDO_0011461 "Disgenet " 10585 SCN1A "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 10585 SCN1A "Absence seizures" MONDO_0001386 "Disgenet " 10585 SCN1A "MIGRAINE, FAMILIAL HEMIPLEGIC, 3" MONDO_0012320 "Disgenet " 10585 SCN1A "Early infantile epileptic encephalopathy with burst-suppression" MONDO_0100062 "Disgenet " 10585 SCN1A "Lennox-Gastaut syndrome" MONDO_0016532 "Disgenet " 10585 SCN1A SIDS "Disgenet " 10585 SCN1A "Sudden Unexplained Death in Childhood" "Disgenet " 10585 SCN1A "Epilepsies, Generalized" MONDO_0005579 "Disgenet " 10585 SCN1A "Acute encephalopathy" "Disgenet " 10585 SCN1A "Migrating Partial Seizures in Infancy" MONDO_0017385 "Disgenet " 10585 SCN1A "epileptic encephalopathy" "Disgenet " 10585 SCN1A "Familial Hemiplegic Migraine" MONDO_0000700 "Disgenet " 10585 SCN1A "Global developmental delay" "Disgenet " 10585 SCN1A "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 10585 SCN1A "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 10585 SCN1A DEE6B MONDO_0030268 "Disgenet " 10586 SCN1B "Long QT Syndrome" MONDO_0002442 "Disgenet " 10586 SCN1B "GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1" MONDO_0018214 "Disgenet " 10586 SCN1B SMEI MONDO_0100079 "Disgenet " 10586 SCN1B "Febrile convulsion" "Disgenet " 10586 SCN1B Arrhythmia MONDO_0007263 "Disgenet " 10586 SCN1B "generalized epilepsy with febrile seizures plus" MONDO:0018214 "ClinGen " 10586 SCN1B "developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 10586 SCN1B "Brugada syndrome 1" MONDO:0011001 "ClinGen " 10586 SCN1B EIEE52 MONDO_0033361 "Disgenet " 10586 SCN1B "epileptic encephalopathy" "Disgenet " 10586 SCN1B "Brugada Syndrome" MONDO_0015263 "Disgenet " 10586 SCN1B "Generalized Epilepsy with Febrile Seizures Plus" MONDO_0018214 "Disgenet " 10586 SCN1B "Early infantile epileptic encephalopathy with burst-suppression" MONDO_0100062 "Disgenet " 10589 SCN2B "Brugada syndrome 1" MONDO:0011001 "ClinGen " 10589 SCN2B "Brugada Syndrome" MONDO_0015263 "Disgenet " 10591 SCN4A "Myotonic disorders" MONDO_0016120 "Disgenet " 10591 SCN4A SIDS "Disgenet " 10591 SCN4A "SCN4A-related myopathy, autosomal recessive" MONDO:0100121 "ClinGen " 10591 SCN4A "Long QT Syndrome" MONDO_0002442 "Disgenet " 10591 SCN4A "NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE" "Disgenet " 10591 SCN4A "Acetazolamide responsive myotonia" MONDO_0020483 "Disgenet " 10591 SCN4A "CONGENITAL MYOPATHY 22B, SEVERE FETAL" MONDO_0957265 "Disgenet " 10591 SCN4A "CONGENITAL MYOPATHY 22A, CLASSIC" MONDO_0957247 "Disgenet " 10591 SCN4A "MYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE" MONDO_0013620 "Disgenet " 10591 SCN4A "Myotonia Congenita" MONDO_0009710 "Disgenet " 10591 SCN4A "CONGEN MYASTHENIA GRAVIS" MONDO_0018940 "Disgenet " 10591 SCN4A Myopathy MONDO_0003939 "Disgenet " 10591 SCN4A "MYOTONIA, POTASSIUM-AGGRAVATED" MONDO_0009710 "Disgenet " 10591 SCN4A "PARAMYOTONIA CONGENITA OF VON EULENBURG" MONDO_0016120 "Disgenet " 10591 SCN4A HYPP MONDO_0008224 "Disgenet " 10591 SCN4A "Hypokalemic periodic paralysis" MONDO_0008223 "Disgenet " 10591 SCN4A "Congenital myopathies" MONDO_0013177 "Disgenet " 10592 SCN4B "long QT syndrome" MONDO:0002442 "ClinGen " 10592 SCN4B LQT10 MONDO_0012737 "Disgenet " 10592 SCN4B "Long QT Syndrome" MONDO_0002442 "Disgenet " 10593 SCN5A SSS1 MONDO_0024562 "Disgenet " 10593 SCN5A "Romano Ward Syndrome" MONDO_0019171 "Disgenet " 10593 SCN5A "Arrhythmogenic right ventricular dysplasia" MONDO_0016587 "Disgenet " 10593 SCN5A "arrhythmogenic right ventricular cardiomyopathy" MONDO:0016587 "ClinGen " 10593 SCN5A "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 10593 SCN5A "familial long QT syndrome" MONDO:0019171 "ClinGen " 10593 SCN5A "Brugada syndrome" MONDO:0015263 "ClinGen " 10593 SCN5A "congenital heart disease" MONDO:0005453 "ClinGen " 10593 SCN5A "Arrest, Heart" MONDO_0000745 "Disgenet " 10593 SCN5A "Idiopathic ventricular fibrillation" MONDO_0100234 "Disgenet " 10593 SCN5A "Conduction disorders" MONDO_0100042 "Disgenet " 10593 SCN5A "BRUGADA SYNDROME 1" MONDO_0011001 "Disgenet " 10593 SCN5A Cardiomyopathy MONDO_0004994 "Disgenet " 10593 SCN5A "Inherited long QT syndrome" MONDO_0019171 "Disgenet " 10593 SCN5A "de Pointes, Torsade" MONDO_0005478 "Disgenet " 10593 SCN5A CMD1E MONDO_0011003 "Disgenet " 10593 SCN5A "Familial sick sinus syndrome" MONDO_0012061 "Disgenet " 10593 SCN5A "Childhood autism" MONDO_0005260 "Disgenet " 10593 SCN5A CMD1A MONDO_0005021 "Disgenet " 10593 SCN5A VTSIP MONDO_0017990 "Disgenet " 10593 SCN5A "Polymorphic catecholergic ventricular tachycardia" MONDO_0017990 "Disgenet " 10593 SCN5A "Short QT Syndrome" MONDO_0000453 "Disgenet " 10593 SCN5A "Familial dilated cardiomyopathy" MONDO_0016333 "Disgenet " 10593 SCN5A "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 10593 SCN5A "Ventricular tachycardia" MONDO_0013529 "Disgenet " 10593 SCN5A "Sinoatrial node dysfunction" MONDO_0014621 "Disgenet " 10593 SCN5A SIDS "Disgenet " 10593 SCN5A "Sick Sinus Syndrome" MONDO_0001823 "Disgenet " 10593 SCN5A PCCD MONDO_0019490 "Disgenet " 10593 SCN5A "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 10593 SCN5A Arrhythmia MONDO_0007263 "Disgenet " 10593 SCN5A "Atrial Fibrillation" MONDO_0004981 "Disgenet " 10593 SCN5A "Brugada Syndrome" MONDO_0015263 "Disgenet " 10593 SCN5A "LONG QT SYNDROME 3" MONDO_0011377 "Disgenet " 10593 SCN5A "Long QT Syndrome" MONDO_0002442 "Disgenet " 10594 SCN7A "Childhood autism" MONDO_0005260 "Disgenet " 10596 SCN8A "Bipolar Disorders" MONDO_0004985 "Disgenet " 10596 SCN8A "Developmental regression" "Disgenet " 10596 SCN8A Epilepsies MONDO_0005027 "Disgenet " 10596 SCN8A "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 10596 SCN8A "Benign familial neonatal convulsions" MONDO_0016027 "Disgenet " 10596 SCN8A "Diseases, Nervous System" MONDO_0005071 "Disgenet " 10596 SCN8A "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 10596 SCN8A EIEE13 MONDO_0013801 "Disgenet " 10596 SCN8A "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 10596 SCN8A "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 10596 SCN8A "Global developmental delay" "Disgenet " 10596 SCN8A "epileptic encephalopathy" "Disgenet " 10596 SCN8A "Early infantile epileptic encephalopathy with burst-suppression" MONDO_0100062 "Disgenet " 10596 SCN8A "Febrile convulsion" "Disgenet " 10596 SCN8A "Unspecified mental retardation" MONDO_0001071 "Disgenet " 10596 SCN8A "Severe mental retardation" MONDO_0010402 "Disgenet " 10596 SCN8A "Status Epilepticus" MONDO_0002125 "Disgenet " 10596 SCN8A "Childhood autism" MONDO_0005260 "Disgenet " 10596 SCN8A BFIC5 MONDO_0014903 "Disgenet " 10597 SCN9A "Generalized Epilepsy with Febrile Seizures Plus" MONDO_0018214 "Disgenet " 10597 SCN9A SMEI MONDO_0100079 "Disgenet " 10597 SCN9A "PAROXYSMAL EXTREME PAIN DISORDER" MONDO_0008179 "Disgenet " 10597 SCN9A Erythermalgias MONDO_0016028 "Disgenet " 10597 SCN9A epilepsy MONDO:0005027 "ClinGen " 10597 SCN9A "ERYTHERMALGIA, PRIMARY" MONDO_0007571 "Disgenet " 10597 SCN9A "INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE" MONDO_0009459 "Disgenet " 10597 SCN9A Epilepsies MONDO_0005027 "Disgenet " 10597 SCN9A "Postzoster neuralgia" MONDO_0041052 "Disgenet " 10597 SCN9A SFNP MONDO_0800207 "Disgenet " 10597 SCN9A "Pain Insensitivity, Congenital" MONDO_0012092 "Disgenet " 10599 SCNN1A "pseudohypoaldosteronism, type IB1, autosomal recessive" MONDO:0009917 "ClinGen " 10599 SCNN1A "Diseases, Lung" MONDO_0005275 "Disgenet " 10599 SCNN1A Pseudohypoaldosteronism MONDO_0018638 "Disgenet " 10599 SCNN1A "High blood pressure" MONDO_0005044 "Disgenet " 10599 SCNN1A "Liddle's syndrome" MONDO_0008323 "Disgenet " 10599 SCNN1A "Pseudohypoaldosteronism, Type I, Autosomal Recessive" MONDO_0008329 "Disgenet " 10599 SCNN1A "Cystic Fibrosis" MONDO_0009061 "Disgenet " 10599 SCNN1A "BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2" MONDO_0013087 "Disgenet " 1060 CXCR5 "primary biliary cirrhosis" MONDO_0005388 "Disgenet " 1060 CXCR5 "Cancer, Breast" MONDO_0007254 "Disgenet " 10600 SCNN1B "High blood pressure" MONDO_0005044 "Disgenet " 10600 SCNN1B "Diseases, Lung" MONDO_0005275 "Disgenet " 10600 SCNN1B BESC1 MONDO_0004822 "Disgenet " 10600 SCNN1B "Liddle's syndrome" MONDO_0008323 "Disgenet " 10600 SCNN1B Pseudohypoaldosteronism MONDO_0018638 "Disgenet " 10600 SCNN1B "Cystic Fibrosis" MONDO_0009061 "Disgenet " 10602 SCNN1G "Cystic Fibrosis" MONDO_0009061 "Disgenet " 10602 SCNN1G BESC3 MONDO_0013112 "Disgenet " 10602 SCNN1G "Liddle syndrome" MONDO:0008323 "ClinGen " 10602 SCNN1G "Liddle's syndrome" MONDO_0008323 "Disgenet " 10602 SCNN1G Pseudohypoaldosteronism MONDO_0018638 "Disgenet " 10602 SCNN1G "High blood pressure" MONDO_0005044 "Disgenet " 10602 SCNN1G "Pseudohypoaldosteronism, Type I, Autosomal Recessive" MONDO_0008329 "Disgenet " 10603 SCO1 Encephalopathy MONDO_0005560 "Disgenet " 10603 SCO1 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 10603 SCO1 "Diseases, Liver" MONDO_0005154 "Disgenet " 10603 SCO1 "Deficiency of cytochrome a3" MONDO_0009068 "Disgenet " 10603 SCO1 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 10603 SCO1 MC4DN4 MONDO_0033636 "Disgenet " 10603 SCO1 "mitochondrial disease" MONDO:0044970 "ClinGen " 10604 SCO2 "Leigh syndrome" MONDO:0009723 "ClinGen " 10604 SCO2 "Deficiency of cytochrome a3" MONDO_0009068 "Disgenet " 10604 SCO2 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 10604 SCO2 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 10604 SCO2 Nearsightedness MONDO_0001384 "Disgenet " 10606 SCP2 Leukoencephalopathy "Disgenet " 10606 SCP2 "sterol carrier protein 2 deficiency" MONDO:0013391 "ClinGen " 10610 CCL11 "HIV infection" MONDO_0005109 "Disgenet " 10610 CCL11 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 10610 CCL11 Pneumonia MONDO_0005249 "Disgenet " 10610 CCL11 "Atopic Eczema" MONDO_0011292 "Disgenet " 10610 CCL11 Endometrioses MONDO_0005133 "Disgenet " 10610 CCL11 Asthma MONDO_0004979 "Disgenet " 10611 CCL13 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 10618 CCL2 "Juvenile Periodontitides" MONDO_0008226 "Disgenet " 10618 CCL2 "Triple-Negative Breast Cancers" MONDO_0005494 "Disgenet " 10618 CCL2 "Behcet Syndrome" MONDO_0007191 "Disgenet " 10618 CCL2 Pancreatitis MONDO_0004982 "Disgenet " 10618 CCL2 "lung injury" "Disgenet " 10618 CCL2 SARS MONDO_0005091 "Disgenet " 10618 CCL2 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 10618 CCL2 "Proliferative diabetic retinopathy" MONDO_0001660 "Disgenet " 10618 CCL2 Hyperlipemias MONDO_0021187 "Disgenet " 10618 CCL2 "Mouth Neoplasm" MONDO_0021245 "Disgenet " 10618 CCL2 "Mastitis Carcinomatosa" MONDO_0006804 "Disgenet " 10618 CCL2 "Neoplasm, Thyroid" MONDO_0015074 "Disgenet " 10618 CCL2 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 10618 CCL2 "Multiple Myeloma" MONDO_0009693 "Disgenet " 10618 CCL2 "Cutaneous Leishmaniases" MONDO_0005446 "Disgenet " 10618 CCL2 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 10618 CCL2 Schizophrenias MONDO_0005090 "Disgenet " 10618 CCL2 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 10618 CCL2 "Tuberculosis, Pulmonary" MONDO_0957462 "Disgenet " 10618 CCL2 "Congestive heart failure" MONDO_0005252 "Disgenet " 10618 CCL2 "Syndrome X, Reaven" MONDO_0011565 "Disgenet " 10618 CCL2 Hyperglycemia MONDO_0002909 "Disgenet " 10618 CCL2 "malignant squamous cell neoplasm of oral cavity (diagnosis)" MONDO_0004958 "Disgenet " 10618 CCL2 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 10618 CCL2 "Coronary Disease" MONDO_0005010 "Disgenet " 10618 CCL2 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 10618 CCL2 "Diseases, Liver" MONDO_0005154 "Disgenet " 10618 CCL2 Glomerulonephritides MONDO_0002462 "Disgenet " 10618 CCL2 "Purpura, Schoenlein Henoch" MONDO_0019167 "Disgenet " 10618 CCL2 "Arteritides, Giant Cell" MONDO_0008538 "Disgenet " 10618 CCL2 "cardiac toxicity" "Disgenet " 10618 CCL2 "Respiratory Distress Syndrome, Adult" MONDO_0100130 "Disgenet " 10618 CCL2 Thrombocytopenia MONDO_0002049 "Disgenet " 10618 CCL2 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 10618 CCL2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 10618 CCL2 "Bronchial Hyperreactivities" "Disgenet " 10618 CCL2 Atherosclerosis MONDO_0005311 "Disgenet " 10618 CCL2 Asthma MONDO_0004979 "Disgenet " 10618 CCL2 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 10618 CCL2 Obesity MONDO_0019182 "Disgenet " 10618 CCL2 Silicoses MONDO_0005960 "Disgenet " 10618 CCL2 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 10618 CCL2 "Brain Injuries" MONDO_0043510 "Disgenet " 10618 CCL2 "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 10618 CCL2 "Glomerulonephritides, Lupus" MONDO_0005556 "Disgenet " 10618 CCL2 "Cardiovascular Disease" MONDO_0004995 "Disgenet " 10618 CCL2 "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 10618 CCL2 "High blood pressure" MONDO_0005044 "Disgenet " 10618 CCL2 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 10618 CCL2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 10618 CCL2 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 10618 CCL2 COPD MONDO_0005002 "Disgenet " 10618 CCL2 "HIV infection" MONDO_0005109 "Disgenet " 10618 CCL2 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 10618 CCL2 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 10618 CCL2 "Heart failure" MONDO_0005252 "Disgenet " 10618 CCL2 Pneumonia MONDO_0005249 "Disgenet " 10618 CCL2 "Fatty Liver" MONDO_0004790 "Disgenet " 10618 CCL2 "ISCHEMIC ENCEPH" MONDO_0005299 "Disgenet " 10618 CCL2 "Status Epilepticus" MONDO_0002125 "Disgenet " 10618 CCL2 "Anterior Uveitides" MONDO_0006651 "Disgenet " 10618 CCL2 Hyperinsulinism MONDO_0002177 "Disgenet " 10618 CCL2 Flu MONDO_0005812 "Disgenet " 10619 CCL20 "Skin Disease" MONDO_0005093 "Disgenet " 10619 CCL20 "Breast Neoplasms" MONDO_0021100 "Disgenet " 10619 CCL20 "Ulcerative colitis" MONDO_0005101 "Disgenet " 10619 CCL20 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 10619 CCL20 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 10619 CCL20 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 1062 BLVRA HYPERBILIVERDINEMIA MONDO_0013595 "Disgenet " 1062 BLVRA hyperbiliverdinemia MONDO:0013595 "ClinGen " 10620 CCL21 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 10623 CCL24 "Atopic Eczema" MONDO_0011292 "Disgenet " 10623 CCL24 Asthma MONDO_0004979 "Disgenet " 10623 CCL24 Pneumonia MONDO_0005249 "Disgenet " 10627 CCL3 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 10627 CCL3 Glomerulonephritides MONDO_0002462 "Disgenet " 10627 CCL3 "lung injury" "Disgenet " 10627 CCL3 "Status Epilepticus" MONDO_0002125 "Disgenet " 10627 CCL3 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 10627 CCL3 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 10627 CCL3 "HIV infection" MONDO_0005109 "Disgenet " 10627 CCL3 "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 10630 CCL4 Atherosclerosis MONDO_0005311 "Disgenet " 10630 CCL4 Glomerulonephritides MONDO_0002462 "Disgenet " 10630 CCL4 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 10632 CCL5 "HIV infection" MONDO_0005109 "Disgenet " 10632 CCL5 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 10632 CCL5 "Atopic Eczema" MONDO_0011292 "Disgenet " 10632 CCL5 "Hepatitis C" MONDO_0005231 "Disgenet " 10632 CCL5 "Tuberculosis, Pulmonary" MONDO_0957462 "Disgenet " 10632 CCL5 "Hepatitis B" MONDO_0005344 "Disgenet " 10632 CCL5 SARS MONDO_0005091 "Disgenet " 10632 CCL5 Glomerulonephritides MONDO_0002462 "Disgenet " 10632 CCL5 Pancreatitis MONDO_0004982 "Disgenet " 10632 CCL5 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 10632 CCL5 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 10632 CCL5 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 10632 CCL5 Asthma MONDO_0004979 "Disgenet " 10632 CCL5 Hyperoxaluria MONDO_0002474 "Disgenet " 10632 CCL5 "Mesothelioma, malignant" MONDO_0006292 "Disgenet " 10637 CXCL10 "primary biliary cirrhosis" MONDO_0005388 "Disgenet " 10637 CXCL10 "Celiac Disease" MONDO_0005130 "Disgenet " 10637 CXCL10 "Cardiovascular Disease" MONDO_0004995 "Disgenet " 10637 CXCL10 "Neoplasm, Thyroid" MONDO_0015074 "Disgenet " 10637 CXCL10 "Alopecia Areata" MONDO_0005340 "Disgenet " 10637 CXCL10 Flu MONDO_0005812 "Disgenet " 10637 CXCL10 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 10637 CXCL10 "Atopic Eczema" MONDO_0011292 "Disgenet " 10637 CXCL10 "Hepatitis B" MONDO_0005344 "Disgenet " 10637 CXCL10 "Cystitides, Interstitial" MONDO_0018301 "Disgenet " 10637 CXCL10 "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 10638 CXCL11 "Celiac Disease" MONDO_0005130 "Disgenet " 10638 CXCL11 "Cystitides, Interstitial" MONDO_0018301 "Disgenet " 10640 CXCL14 "Lung Neoplasm" MONDO_0002732 "Disgenet " 10640 CXCL14 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 10643 CXCL6 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 10647 CX3CL1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 10658 SDC1 "Mesothelioma, malignant" MONDO_0006292 "Disgenet " 1066 BMI1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 1066 BMI1 CRC MONDO_0005335 "Disgenet " 1066 BMI1 "Glioma, malignant" MONDO_0100342 "Disgenet " 1066 BMI1 "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 1066 BMI1 Glioblastoma MONDO_0018177 "Disgenet " 1066 BMI1 Gliomas MONDO_0021042 "Disgenet " 1066 BMI1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 10660 SDC3 Obesity MONDO_0019182 "Disgenet " 10661 SDC4 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 10663 NEMF "intellectual developmental disorder with speech delay and axonal peripheral neuropathy" MONDO:0030849 "ClinGen " 10663 NEMF "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY" MONDO_0030849 "Disgenet " 10669 TSHZ1 "AURAL ATRESIA, CONGENITAL" MONDO_0011921 "Disgenet " 10669 TSHZ1 "aural atresia, congenital" MONDO:0011921 "ClinGen " 1067 BMP1 "Osteogenesis Imperfecta" MONDO_0012591 "Disgenet " 1067 BMP1 OI13 MONDO_0013924 "Disgenet " 10671 SDCCAG8 "Bardet-Biedl syndrome 16" MONDO:0014444 "ClinGen " 10671 SDCCAG8 "Renal dysplasia and retinal aplasia (disorder)" MONDO_0017842 "Disgenet " 10671 SDCCAG8 "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 10671 SDCCAG8 "BARDET-BIEDL SYNDROME 16" MONDO_0014444 "Disgenet " 10671 SDCCAG8 Schizophrenias MONDO_0005090 "Disgenet " 10672 CXCL12 "Coronary Disease" MONDO_0005010 "Disgenet " 10672 CXCL12 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 10672 CXCL12 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 10672 CXCL12 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 10672 CXCL12 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 10672 CXCL12 "HIV infection" MONDO_0005109 "Disgenet " 10672 CXCL12 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 10672 CXCL12 "Breast Neoplasms" MONDO_0021100 "Disgenet " 10672 CXCL12 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 10680 SDHA "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 10680 SDHA "hereditary pheochromocytoma-paraganglioma" MONDO:0017366 "ClinGen " 10680 SDHA "Leigh syndrome" MONDO:0009723 "ClinGen " 10680 SDHA "CARDIOMYOPATHY, DILATED, 1GG" MONDO_0013339 "Disgenet " 10680 SDHA "Sipple's syndrome" MONDO_0019003 "Disgenet " 10680 SDHA "PARAGANGLIOMAS 1" MONDO_0008192 "Disgenet " 10680 SDHA "CARNEY TRIAD" MONDO_0011424 "Disgenet " 10680 SDHA Paraganglioma MONDO_0000448 "Disgenet " 10680 SDHA GIST MONDO_0011719 "Disgenet " 10680 SDHA "Succinate CoQ Reductase Deficiency" MONDO_0100294 "Disgenet " 10680 SDHA Pheochromocytoma MONDO_0008233 "Disgenet " 10680 SDHA "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 10681 SDHB "Renal cell carcinoma" MONDO_0005549 "Disgenet " 10681 SDHB "PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA" MONDO_0011740 "Disgenet " 10681 SDHB "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 10681 SDHB "Kidney Neoplasm" MONDO_0002367 "Disgenet " 10681 SDHB "Hereditary phaeochromocytoma and paraganglioma" MONDO_0017366 "Disgenet " 10681 SDHB "CARNEY TRIAD" MONDO_0011424 "Disgenet " 10681 SDHB "mitochondrial disease" MONDO:0044970 "ClinGen " 10681 SDHB "hereditary pheochromocytoma-paraganglioma" MONDO:0017366 "ClinGen " 10681 SDHB "Extra-Adrenal Pheochromocytoma" MONDO_0008233 "Disgenet " 10681 SDHB "Succinate CoQ Reductase Deficiency" MONDO_0100294 "Disgenet " 10681 SDHB "PARAGANGLIOMAS 4" MONDO_0011544 "Disgenet " 10681 SDHB "Hippel Lindau Disease" MONDO_0008667 "Disgenet " 10681 SDHB Paraganglioma MONDO_0000448 "Disgenet " 10681 SDHB GIST MONDO_0011719 "Disgenet " 10681 SDHB Pheochromocytoma MONDO_0008233 "Disgenet " 10682 SDHC "PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA" MONDO_0011740 "Disgenet " 10682 SDHC "hereditary pheochromocytoma-paraganglioma" MONDO:0017366 "ClinGen " 10682 SDHC "mitochondrial disease" MONDO:0044970 "ClinGen " 10682 SDHC Pheochromocytoma MONDO_0008233 "Disgenet " 10682 SDHC "CARNEY TRIAD" MONDO_0011424 "Disgenet " 10682 SDHC GIST MONDO_0011719 "Disgenet " 10682 SDHC Paraganglioma MONDO_0000448 "Disgenet " 10682 SDHC "PARAGANGLIOMAS 3" MONDO_0011544 "Disgenet " 10682 SDHC "Hereditary phaeochromocytoma and paraganglioma" MONDO_0017366 "Disgenet " 10683 SDHD "Cancer Syndrome, Hereditary" MONDO_0015356 "Disgenet " 10683 SDHD "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 10683 SDHD Paraganglioma MONDO_0000448 "Disgenet " 10683 SDHD "mitochondrial disease" MONDO:0044970 "ClinGen " 10683 SDHD "hereditary pheochromocytoma-paraganglioma" MONDO:0017366 "ClinGen " 10683 SDHD "Succinate CoQ Reductase Deficiency" MONDO_0100294 "Disgenet " 10683 SDHD "PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA" MONDO_0011740 "Disgenet " 10683 SDHD "PARAGANGLIOMAS 1" MONDO_0008192 "Disgenet " 10683 SDHD Pheochromocytoma MONDO_0008233 "Disgenet " 10683 SDHD "Cowdens Disease" MONDO_0008021 "Disgenet " 10683 SDHD Melanoma MONDO_0005105 "Disgenet " 1069 BMP2 Osteoporoses MONDO_0005298 "Disgenet " 1069 BMP2 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 1069 BMP2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 1069 BMP2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 1069 BMP2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1069 BMP2 "Peripheral Arterial Diseases" MONDO_0005386 "Disgenet " 1069 BMP2 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 1069 BMP2 BDA2 MONDO_0007216 "Disgenet " 1069 BMP2 "Cancer, Lung" MONDO_0008903 "Disgenet " 1069 BMP2 Craniosynostosis MONDO_0015469 "Disgenet " 1069 BMP2 Osteopathy MONDO_0005381 "Disgenet " 1069 BMP2 Nearsightedness MONDO_0001384 "Disgenet " 10701 SEC23A CLSD MONDO_0011911 "Disgenet " 10702 SEC23B HEMPAS MONDO_0019403 "Disgenet " 10702 SEC23B CWS7 MONDO_0014802 "Disgenet " 10702 SEC23B "Anemia, Dyserythropoietic, Congenital" MONDO_0019403 "Disgenet " 10702 SEC23B "congenital dyserythropoietic anemia type 2" MONDO:0009134 "ClinGen " 10706 SEC24D "Cole Carpenter syndrome" MONDO_0016085 "Disgenet " 1071 BMP4 Osteoporoses MONDO_0005298 "Disgenet " 1071 BMP4 "Orofacial cleft" MONDO_0000358 "Disgenet " 1071 BMP4 Melanoma MONDO_0005105 "Disgenet " 1071 BMP4 "MICROPHTHALMIA, SYNDROMIC 6" MONDO_0011936 "Disgenet " 1071 BMP4 "Syndromic microphthalmia" MONDO_0016073 "Disgenet " 1071 BMP4 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 1071 BMP4 "Cleft Lip" MONDO_0004747 "Disgenet " 1071 BMP4 "Cleft palate with cleft lip" MONDO_0016044 "Disgenet " 1071 BMP4 Cakut MONDO_0019719 "Disgenet " 1071 BMP4 "Failure of development of some teeth" "Disgenet " 1071 BMP4 "Pituitary Adenoma, PRL-Secreting" MONDO_0010911 "Disgenet " 1071 BMP4 OFC11 MONDO_0010906 "Disgenet " 1071 BMP4 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 1071 BMP4 "Breast Neoplasms" MONDO_0021100 "Disgenet " 10717 SEL1L "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 10718 SELE "Cardiovascular Disease" MONDO_0004995 "Disgenet " 10718 SELE "ISCHEMIC ENCEPH" MONDO_0005299 "Disgenet " 10718 SELE "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 10718 SELE "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 10718 SELE "Bergers Disease" MONDO_0005342 "Disgenet " 10718 SELE "Cerebrovascular Disorders" MONDO_0011057 "Disgenet " 10718 SELE Hypercholesteremias "Disgenet " 10718 SELE "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 10718 SELE "Coronary Disease" MONDO_0005010 "Disgenet " 10718 SELE "Atrial Fibrillation" MONDO_0004981 "Disgenet " 10718 SELE "Multiple Sclerosis" MONDO_0005301 "Disgenet " 10718 SELE "Damage, Reperfusion" MONDO_0005203 "Disgenet " 10718 SELE "Atopic Eczema" MONDO_0011292 "Disgenet " 10719 SELENBP1 "EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY" MONDO_0029144 "Disgenet " 10719 SELENBP1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 10719 SELENBP1 "extraoral halitosis due to methanethiol oxidase deficiency" MONDO:0029144 "ClinGen " 10719 SELENBP1 Schizophrenias MONDO_0005090 "Disgenet " 10719 SELENBP1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 10719 SELENBP1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 10720 SELL "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 10720 SELL "Bergers Disease" MONDO_0005342 "Disgenet " 10720 SELL "Ulcerative colitis" MONDO_0005101 "Disgenet " 10721 SELP "Depressed mood" "Disgenet " 10721 SELP Depression MONDO_0002050 "Disgenet " 10721 SELP "High blood pressure" MONDO_0005044 "Disgenet " 10721 SELP "Atopic Eczema" MONDO_0011292 "Disgenet " 10721 SELP "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 10721 SELP "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 10723 SEMA3A "Syndrome, Kallmann's" MONDO_0013961 "Disgenet " 10723 SEMA3A Schizophrenias MONDO_0005090 "Disgenet " 10723 SEMA3A "Cancer, Breast" MONDO_0007254 "Disgenet " 10723 SEMA3A "Hypogonadotropic hypogonadism" MONDO_0014102 "Disgenet " 10723 SEMA3A "HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA" MONDO_0013961 "Disgenet " 10724 SEMA3B "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 10725 SEMA3C "Disease, Hirschsprung" MONDO_0018309 "Disgenet " 10726 SEMA3D "Disease, Hirschsprung" MONDO_0018309 "Disgenet " 10727 SEMA3E "Syndrome, Kallmann's" MONDO_0013961 "Disgenet " 10727 SEMA3E "CHARGE association (disorder)" MONDO_0008965 "Disgenet " 10728 SEMA3F "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 10729 SEMA4A "Lynch syndrome" MONDO:0005835 "ClinGen " 10729 SEMA4A "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 10729 SEMA4A "RETINITIS PIGMENTOSA 35" MONDO_0012463 "Disgenet " 10729 SEMA4A CORD10 MONDO_0012464 "Disgenet " 1073 BMP6 "iron overload, susceptibility to" MONDO:0859316 "ClinGen " 1073 BMP6 CRC MONDO_0005335 "Disgenet " 1073 BMP6 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 1073 BMP6 "Iron Overload" "Disgenet " 10736 SEMA5A "Childhood autism" MONDO_0005260 "Disgenet " 10736 SEMA5A "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 10739 SEMA6B "Epilepsies, Progressive Myoclonic" MONDO_0020074 "Disgenet " 10739 SEMA6B "progressive myoclonus epilepsy" MONDO:0020074 "ClinGen " 1074 BMP7 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1074 BMP7 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 1074 BMP7 Endometrioses MONDO_0005133 "Disgenet " 1074 BMP7 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 1074 BMP7 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 10751 SELENOP "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 10751 SELENOP Adenoma MONDO_0004972 "Disgenet " 10751 SELENOP "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 10751 SELENOP "Lung Neoplasm" MONDO_0002732 "Disgenet " 10751 SELENOP "Degenerative disease of nervous system, unspecified" MONDO_0005559 "Disgenet " 1076 BMPR1A "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 1076 BMPR1A "Cancer, Breast" MONDO_0007254 "Disgenet " 1076 BMPR1A "Juvenile polyposis of infancy (disorder)" MONDO_0019190 "Disgenet " 1076 BMPR1A FCCTX MONDO_0018604 "Disgenet " 1076 BMPR1A "JUVENILE POLYPOSIS COLI" MONDO_0008276 "Disgenet " 1076 BMPR1A JPS MONDO_0017380 "Disgenet " 1076 BMPR1A "pulmonary arterial hypertension" MONDO:0015924 "ClinGen " 1076 BMPR1A "juvenile polyposis syndrome" MONDO:0017380 "ClinGen " 1076 BMPR1A "Cancer, Ovarian" MONDO_0008170 "Disgenet " 10760 SET "intellectual disability" MONDO:0001071 "ClinGen " 10761 SETDB1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 10761 SETDB1 Schizophrenias MONDO_0005090 "Disgenet " 10761 SETDB1 Melanoma MONDO_0005105 "Disgenet " 10768 SF3B1 "Dysmyelopoietic Syndrome" MONDO_0018881 "Disgenet " 10768 SF3B1 "SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC" MONDO_0019157 "Disgenet " 10768 SF3B1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 10768 SF3B1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 10768 SF3B1 "Malignant melanoma of skin" MONDO_0005012 "Disgenet " 10768 SF3B1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 10768 SF3B1 "MELANOMA, UVEAL" MONDO_0006486 "Disgenet " 10768 SF3B1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 10768 SF3B1 "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 1077 BMPR1B BDA2 MONDO_0007216 "Disgenet " 1077 BMPR1B "Menopause, Premature" MONDO_0001119 "Disgenet " 1077 BMPR1B Brachydactyly MONDO_0021004 "Disgenet " 1077 BMPR1B "BRACHYDACTYLY, TYPE A1, D" MONDO_0014798 "Disgenet " 1077 BMPR1B AMDD MONDO_0012274 "Disgenet " 1077 BMPR1B "pulmonary arterial hypertension" MONDO:0015924 "ClinGen " 1077 BMPR1B "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1077 BMPR1B "Pulmonary arterial hypertension" MONDO_0015924 "Disgenet " 10773 SFN Keloid MONDO_0005348 "Disgenet " 10773 SFN "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 10773 SFN "Mouth Neoplasm" MONDO_0021245 "Disgenet " 10773 SFN "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 10773 SFN "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 10773 SFN "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 10773 SFN "Liver cell carcinoma" MONDO_0007256 "Disgenet " 10773 SFN "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 10776 SFRP1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 10776 SFRP1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 10776 SFRP1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 10777 SFRP2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 10777 SFRP2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 10777 SFRP2 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 10778 SFRP4 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 10778 SFRP4 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 10778 SFRP4 "PYLE DISEASE" MONDO_0009943 "Disgenet " 10779 SFRP5 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 10779 SFRP5 "Breast Neoplasms" MONDO_0021100 "Disgenet " 1078 BMPR2 "congenital heart disorder" MONDO_0005453 "Disgenet " 1078 BMPR2 "Diseases, Pulmonary Veno-Occlusive" MONDO_0009937 "Disgenet " 1078 BMPR2 Hyperandrogenism "Disgenet " 1078 BMPR2 "Familial primary pulmonary hypertension" MONDO_0001999 "Disgenet " 1078 BMPR2 "Pulmonary arterial hypertension" MONDO_0015924 "Disgenet " 1078 BMPR2 "Primary pulmonary hypertension" MONDO_0001999 "Disgenet " 1078 BMPR2 PVOD1 MONDO_0009937 "Disgenet " 1078 BMPR2 "congenital heart disease" MONDO:0005453 "ClinGen " 1078 BMPR2 "pulmonary arterial hypertension" MONDO:0015924 "ClinGen " 1078 BMPR2 "myositis ossificans progressiva" MONDO_0003964 "Disgenet " 1078 BMPR2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 10780 SRSF1 "Cancer, Breast" MONDO_0007254 "Disgenet " 10783 SRSF2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 10783 SRSF2 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 10783 SRSF2 "systemic mastocytosis with associated clonal hematologic non-mast cell lineage disease (diagnosis)" MONDO_0020332 "Disgenet " 10783 SRSF2 "Aggressive Systemic Mastocytoses" MONDO_0020333 "Disgenet " 10785 SRSF3 "Bipolar Disorders" MONDO_0004985 "Disgenet " 10788 SRSF6 CRC MONDO_0005335 "Disgenet " 10798 SFTPA1 "Bronchopulmonary Dysplasia" MONDO_0019091 "Disgenet " 10798 SFTPA1 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 10798 SFTPA1 "Interstitial lung disease" MONDO_0015925 "Disgenet " 10798 SFTPA1 "Diseases, Lung" MONDO_0005275 "Disgenet " 10798 SFTPA1 COPD MONDO_0005002 "Disgenet " 10798 SFTPA1 "interstitial lung disease 1" MONDO:0030608 "ClinGen " 10798 SFTPA1 "Fibrosing alveolitis" MONDO_0800029 "Disgenet " 10799 SFTPA2 "Fibrosing alveolitis" MONDO_0800029 "Disgenet " 108 ACHE "Myasthenia Gravis" MONDO_0009688 "Disgenet " 108 ACHE "Diseases, Nervous System" MONDO_0005071 "Disgenet " 108 ACHE Schizophrenias MONDO_0005090 "Disgenet " 108 ACHE Obesity MONDO_0019182 "Disgenet " 108 ACHE "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 108 ACHE "Memory Disorder" "Disgenet " 108 ACHE "Breast Neoplasms" MONDO_0021100 "Disgenet " 108 ACHE "Organophosphate poisoning" "Disgenet " 108 ACHE "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 108 ACHE Epilepsies MONDO_0005027 "Disgenet " 108 ACHE "Alzheimer Disease" MONDO_0012630 "Disgenet " 10801 SFTPB Pneumonia MONDO_0005249 "Disgenet " 10801 SFTPB "Lung Neoplasm" MONDO_0002732 "Disgenet " 10801 SFTPB "Respiratory Distress Syndrome, Adult" MONDO_0100130 "Disgenet " 10801 SFTPB "Diseases, Lung" MONDO_0005275 "Disgenet " 10801 SFTPB "Interstitial lung disease" MONDO_0015925 "Disgenet " 10801 SFTPB COPD MONDO_0005002 "Disgenet " 10801 SFTPB "Pulmonary Alveolar Proteinosis" MONDO_0001437 "Disgenet " 10801 SFTPB "respiratory distress syndrome of newborn" MONDO_0700081 "Disgenet " 10801 SFTPB "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 10801 SFTPB "Acute respiratory failure" MONDO_0001208 "Disgenet " 10801 SFTPB "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 10801 SFTPB "Pulmonary Surfactant Metabolism Dysfunction" MONDO_0012580 "Disgenet " 10801 SFTPB "surfactant metabolism dysfunction, pulmonary, 1" MONDO:0009929 "ClinGen " 10801 SFTPB SMDP1 MONDO_0012580 "Disgenet " 10801 SFTPB "Bronchopulmonary Dysplasia" MONDO_0019091 "Disgenet " 10802 SFTPC "Diseases, Lung" MONDO_0005275 "Disgenet " 10802 SFTPC "Interstitial lung disease" MONDO_0015925 "Disgenet " 10802 SFTPC "Interstitial lung disease" MONDO_0015925 "Disgenet " 10802 SFTPC "Fibrosing alveolitis" MONDO_0800029 "Disgenet " 10802 SFTPC "Respiratory Distress Syndrome, Adult" MONDO_0100130 "Disgenet " 10802 SFTPC SMDP1 MONDO_0012580 "Disgenet " 10802 SFTPC "Pulmonary Surfactant Metabolism Dysfunction" MONDO_0012580 "Disgenet " 10802 SFTPC "Pulmonary Alveolar Proteinosis" MONDO_0001437 "Disgenet " 10802 SFTPC "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 10802 SFTPC "SFTPC- related interstitial lung disease" MONDO:0018603 "ClinGen " 10802 SFTPC Asthma MONDO_0004979 "Disgenet " 10802 SFTPC COPD MONDO_0005002 "Disgenet " 10802 SFTPC "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 10803 SFTPD "Acute Lung Injury" MONDO_0015796 "Disgenet " 10803 SFTPD "Bronchopulmonary Dysplasia" MONDO_0019091 "Disgenet " 10803 SFTPD Asthma MONDO_0004979 "Disgenet " 10803 SFTPD Pneumonia MONDO_0005249 "Disgenet " 10803 SFTPD "Diseases, Lung" MONDO_0005275 "Disgenet " 10803 SFTPD "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 10803 SFTPD "Lung Neoplasm" MONDO_0002732 "Disgenet " 10803 SFTPD COPD MONDO_0005002 "Disgenet " 10805 SGCA LGMD2D MONDO_0016140 "Disgenet " 10805 SGCA "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 10805 SGCA Sarcoglycanopathies MONDO_0016140 "Disgenet " 10805 SGCA "autosomal recessive limb-girdle muscular dystrophy" MONDO:0015152 "ClinGen " 10805 SGCA "Limb-girdle muscular dystrophy autosomal recessive" MONDO_0015152 "Disgenet " 10806 SGCB "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 10806 SGCB LGMD2E MONDO_0011423 "Disgenet " 10806 SGCB Cardiomyopathy MONDO_0004994 "Disgenet " 10806 SGCB "autosomal recessive limb-girdle muscular dystrophy" MONDO:0015152 "ClinGen " 10806 SGCB "Limb-girdle muscular dystrophy autosomal recessive" MONDO_0015152 "Disgenet " 10806 SGCB Beta-sarcoglycanopathy MONDO_0016142 "Disgenet " 10807 SGCD LGMD2F MONDO_0011028 "Disgenet " 10807 SGCD "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 10807 SGCD "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 10807 SGCD "Limb-girdle muscular dystrophy autosomal recessive" MONDO_0015152 "Disgenet " 10807 SGCD "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 10807 SGCD "autosomal recessive limb-girdle muscular dystrophy" MONDO:0015152 "ClinGen " 10807 SGCD "Familial dilated cardiomyopathy" MONDO_0016333 "Disgenet " 10807 SGCD CMD1L MONDO_0011702 "Disgenet " 10807 SGCD CMD1A MONDO_0005021 "Disgenet " 10807 SGCD Cardiomyopathy MONDO_0004994 "Disgenet " 10808 SGCE DYT11 MONDO_0000903 "Disgenet " 10808 SGCE "Movement Disorders" MONDO_0005395 "Disgenet " 10808 SGCE Alcoholism MONDO_0002046 "Disgenet " 10808 SGCE Depression MONDO_0002050 "Disgenet " 10808 SGCE "Depressive neurosis" MONDO_0002050 "Disgenet " 10809 SGCG "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 10809 SGCG "Limb-girdle muscular dystrophy autosomal recessive" MONDO_0015152 "Disgenet " 10809 SGCG SCARMD MONDO_0009677 "Disgenet " 10809 SGCG "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 10809 SGCG "autosomal recessive limb-girdle muscular dystrophy" MONDO:0015152 "ClinGen " 10809 SGCG Sarcoglycanopathies MONDO_0016140 "Disgenet " 1081 BNC1 POF16 MONDO_0032881 "Disgenet " 1081 BNC1 "Primary ovarian failure" MONDO_0005387 "Disgenet " 10810 SGK1 "High blood pressure" MONDO_0005044 "Disgenet " 10810 SGK1 "Multiple Myeloma" MONDO_0009693 "Disgenet " 10810 SGK1 Epithelioma MONDO_0004993 "Disgenet " 10810 SGK1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 10810 SGK1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 10812 SGK3 "Cancer, Breast" MONDO_0007254 "Disgenet " 10812 SGK3 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 10816 SCG5 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 10816 SCG5 "HMPS - hereditary mixed polyposis syndrome" MONDO_0011023 "Disgenet " 10817 SGPL1 NPHS14 MONDO_0033203 "Disgenet " 10817 SGPL1 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 10817 SGPL1 "nephrotic syndrome 14" MONDO:0033203 "ClinGen " 10820 SH2D1A "Disorder, X-Linked Lymphoproliferative" MONDO_0010385 "Disgenet " 10820 SH2D1A XLPD MONDO_0024551 "Disgenet " 10820 SH2D1A "Disorder, Lymphoproliferative" MONDO_0011804 "Disgenet " 10821 SH2D2A "Multiple Sclerosis" MONDO_0005301 "Disgenet " 10825 SH3BP2 Cherubism MONDO_0007315 "Disgenet " 10830 SH3GL1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 10830 SH3GL1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 1084 BNIP3 "Multiple Myeloma" MONDO_0009693 "Disgenet " 1084 BNIP3 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 1084 BNIP3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 10845 SEM1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 10847 FBXW4 "SPLIT-HAND/FOOT MALFORMATION 3" MONDO_0009525 "Disgenet " 10847 FBXW4 Ectrodactyly MONDO_0016576 "Disgenet " 10848 SHH "Childhood autism" MONDO_0005260 "Disgenet " 10848 SHH "Microform holoprosencephaly" MONDO_0017219 "Disgenet " 10848 SHH Holoprosencephalies MONDO_0016296 "Disgenet " 10848 SHH Microphthalmos MONDO_0021129 "Disgenet " 10848 SHH "SYNDACTYLY, TYPE IV" MONDO_0008515 "Disgenet " 10848 SHH "Fused incisors" MONDO_0017219 "Disgenet " 10848 SHH Polydactyly MONDO_0021003 "Disgenet " 10848 SHH "HOLOPROSENCEPHALY 3" MONDO_0007733 "Disgenet " 10848 SHH "Liver cell carcinoma" MONDO_0007256 "Disgenet " 10848 SHH "Postaxial polydactyly" MONDO_0020927 "Disgenet " 10848 SHH "Disease, Hirschsprung" MONDO_0018309 "Disgenet " 10848 SHH "ACROCALLOSAL SYNDROME" MONDO_0008708 "Disgenet " 10848 SHH "Septo-optic dysplasia" MONDO_0008428 "Disgenet " 10848 SHH SCHIZENCEPHALY MONDO_0010011 "Disgenet " 10850 SHMT1 "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 10850 SHMT1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 10850 SHMT1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 10850 SHMT1 "Cancer, Breast" MONDO_0007254 "Disgenet " 10852 SHMT2 "NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES" MONDO_0030866 "Disgenet " 10852 SHMT2 "neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities" MONDO:0030866 "ClinGen " 10856 SI "Sucrase-isomaltase deficiency" MONDO_0009114 "Disgenet " 10860 ST6GAL1 "Alcoholic Intoxication" "Disgenet " 10860 ST6GAL1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 10866 ST3GAL3 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 10866 ST3GAL3 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 10866 ST3GAL3 MRT12 MONDO_0012612 "Disgenet " 10866 ST3GAL3 EIEE15 MONDO_0014003 "Disgenet " 10866 ST3GAL3 "Infantile spasms" MONDO_0018097 "Disgenet " 10867 ST6GALNAC2 "Bergers Disease" MONDO_0005342 "Disgenet " 10872 ST3GAL5 "GM3 synthase deficiency" MONDO:0018274 "ClinGen " 10872 ST3GAL5 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 10872 ST3GAL5 "GM3 Synthase Deficiency" MONDO_0018274 "Disgenet " 10880 PMEL Melanoma MONDO_0005105 "Disgenet " 10882 SIM1 Obesity MONDO_0019182 "Disgenet " 10882 SIM1 PWLS MONDO_0014243 "Disgenet " 10883 SIM2 "Abnormalities, Craniofacial" "Disgenet " 10886 SIRT2 "Affective Disorders" MONDO_0005371 "Disgenet " 10887 SIX1 "Branchio Oto Renal Syndrome" MONDO_0007029 "Disgenet " 10887 SIX1 "Childhood Renal Wilms' Tumor" MONDO_0024676 "Disgenet " 10887 SIX1 Deformity "Disgenet " 10887 SIX1 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 10887 SIX1 Nephroblastoma MONDO_0019004 "Disgenet " 10887 SIX1 "branchio-oto-renal syndrome" MONDO:0007029 "ClinGen " 10887 SIX1 "DEAFNESS, AUTOSOMAL DOMINANT 23" MONDO_0011519 "Disgenet " 10887 SIX1 Hypoacusis MONDO_0005365 "Disgenet " 10887 SIX1 "Branchiootic dysplasia" MONDO_0018878 "Disgenet " 10887 SIX1 "BRANCHIOOTIC SYNDROME 3" MONDO_0012025 "Disgenet " 10891 SIX5 "branchio-oto-renal syndrome" MONDO:0007029 "ClinGen " 10891 SIX5 "BRANCHIOOTORENAL SYNDROME 2" MONDO_0012575 "Disgenet " 10891 SIX5 "Branchio Oto Renal Syndrome" MONDO_0007029 "Disgenet " 10892 SIX6 "Congenital cataract" MONDO_0008925 "Disgenet " 10892 SIX6 ODRMD MONDO_0008927 "Disgenet " 10894 PRMT5 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 10894 PRMT5 "Multiple Myeloma" MONDO_0009693 "Disgenet " 10894 PRMT5 "Triple-Negative Breast Cancers" MONDO_0005494 "Disgenet " 10894 PRMT5 Medulloblastoma MONDO_0007959 "Disgenet " 10895 VPS4B "DENTIN DYSPLASIA, TYPE I" MONDO_0007436 "Disgenet " 10896 SKI "SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME" MONDO_0008426 "Disgenet " 10896 SKI "Aneurysms, Aortic" MONDO_0005160 "Disgenet " 10896 SKI "1p36 Deletion Syndrome" MONDO_0011929 "Disgenet " 10896 SKI "Shprintzen-Goldberg syndrome" MONDO:0008426 "ClinGen " 10898 SKIC2 "trichohepatoenteric syndrome 2" MONDO:0013818 "ClinGen " 10898 SKIC2 "Trichohepatoenteric Syndrome" MONDO_0009105 "Disgenet " 10898 SKIC2 THES2 MONDO_0013818 "Disgenet " 1090 DST "Epidermolysis Bullosa Simplex" MONDO_0007550 "Disgenet " 1090 DST "hereditary sensory and autonomic neuropathy type 6" MONDO:0013839 "ClinGen " 1090 DST HSAN6 MONDO_0013839 "Disgenet " 10901 SKP2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 10901 SKP2 "CARCINOMA OF PROSTATE" MONDO_0005159 "Disgenet " 10901 SKP2 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 10901 SKP2 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 10907 SLC11A1 "Ulcerative colitis" MONDO_0005101 "Disgenet " 10907 SLC11A1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 10907 SLC11A1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 10907 SLC11A1 "Disease, Schaumann" MONDO_0008399 "Disgenet " 10907 SLC11A1 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 10907 SLC11A1 "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 10907 SLC11A1 "Mycobacterium ulcerans infection" MONDO_0000327 "Disgenet " 10907 SLC11A1 "Cutaneous Leishmaniases" MONDO_0005446 "Disgenet " 10907 SLC11A1 "Behcet Syndrome" MONDO_0007191 "Disgenet " 10907 SLC11A1 "HIV infection" MONDO_0005109 "Disgenet " 10907 SLC11A1 "Cystic Fibrosis" MONDO_0009061 "Disgenet " 10907 SLC11A1 "Tuberculosis, Pulmonary" MONDO_0957462 "Disgenet " 10907 SLC11A1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 10907 SLC11A1 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 10907 SLC11A1 "Kala Azar" MONDO_0005445 "Disgenet " 10907 SLC11A1 Leprosy MONDO_0005124 "Disgenet " 10908 SLC11A2 "Anemia, Hypochromic Microcytic, With Iron Overload" MONDO_0008787 "Disgenet " 10908 SLC11A2 "microcytic anemia with liver iron overload" MONDO:0008787 "ClinGen " 10908 SLC11A2 "Parkinson Disease" MONDO_0014796 "Disgenet " 10908 SLC11A2 Anemia MONDO_0002280 "Disgenet " 10908 SLC11A2 Hemochromatosis MONDO_0001436 "Disgenet " 10908 SLC11A2 AHMIO1 MONDO_0008787 "Disgenet " 10908 SLC11A2 CRC MONDO_0005335 "Disgenet " 10908 SLC11A2 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 10909 SLC40A1 HFE4 MONDO_0011631 "Disgenet " 10909 SLC40A1 "Iron Overload" "Disgenet " 10909 SLC40A1 HFE MONDO_0006507 "Disgenet " 10909 SLC40A1 Anemia MONDO_0002280 "Disgenet " 10909 SLC40A1 "Hereditary hemochromatosis" MONDO_0006507 "Disgenet " 10909 SLC40A1 Hemochromatosis MONDO_0001436 "Disgenet " 10909 SLC40A1 "SLC40A1-related hemochromatosis" MONDO_0011631 "Disgenet " 10909 SLC40A1 "Liver Neoplasm" MONDO_0002691 "Disgenet " 10909 SLC40A1 ACERULOPLASMINEMIA MONDO_0011426 "Disgenet " 10911 SLC12A2 "Temporal lobe epilepsy" MONDO_0005115 "Disgenet " 10911 SLC12A2 Schizophrenias MONDO_0005090 "Disgenet " 10911 SLC12A2 "High blood pressure" MONDO_0005044 "Disgenet " 10911 SLC12A2 Epilepsies MONDO_0005027 "Disgenet " 10911 SLC12A2 "DEAFNESS, AUTOSOMAL DOMINANT 78" MONDO_0033665 "Disgenet " 10912 SLC12A3 "Gitelman Syndrome" MONDO_0009904 "Disgenet " 10912 SLC12A3 "High blood pressure" MONDO_0005044 "Disgenet " 10912 SLC12A3 Nephropathy MONDO_0005240 "Disgenet " 10912 SLC12A3 "Essential hypertension" MONDO_0007781 "Disgenet " 10912 SLC12A3 "Bartter Disease" MONDO_0015231 "Disgenet " 10914 SLC12A6 HMSN MONDO_0012250 "Disgenet " 10914 SLC12A6 "Bipolar Disorders" MONDO_0004985 "Disgenet " 10914 SLC12A6 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 10914 SLC12A6 ACCPN MONDO_0000902 "Disgenet " 10914 SLC12A6 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 10914 SLC12A6 "Absent corpus callosum" MONDO_0009022 "Disgenet " 10915 SLC12A7 "renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss" MONDO:0009968 "ClinGen " 10921 SLC15A2 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 10922 SLC16A1 "ERYTHROCYTE LACTATE TRANSPORTER DEFECT" MONDO_0009501 "Disgenet " 10922 SLC16A1 "MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY" MONDO_0014490 "Disgenet " 10922 SLC16A1 Hyperinsulinism MONDO_0002177 "Disgenet " 10922 SLC16A1 "HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7" MONDO_0012396 "Disgenet " 10923 SLC16A2 "Paraplegias, Spastic" MONDO_0003757 "Disgenet " 10923 SLC16A2 "Allan-Herndon-Dudley syndrome" MONDO:0010354 "ClinGen " 10923 SLC16A2 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 10923 SLC16A2 AHDS MONDO_0010354 "Disgenet " 10923 SLC16A2 Hypothyroidism MONDO_0005420 "Disgenet " 10923 SLC16A2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 10924 SLC16A3 "Breast Neoplasms" MONDO_0021100 "Disgenet " 10924 SLC16A3 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 1093 BPGM "DIPHOSPHOGLYCERATE MUTASE DEFICIENCY OF ERYTHROCYTE" MONDO_0009113 "Disgenet " 10933 SLC17A5 "Intermediate severe Salla disease" MONDO_0017737 "Disgenet " 10933 SLC17A5 "Free sialic acid storage disease" MONDO_0019366 "Disgenet " 10933 SLC17A5 Melanoma MONDO_0005105 "Disgenet " 10933 SLC17A5 Alcoholism MONDO_0002046 "Disgenet " 10933 SLC17A5 "free sialic acid storage disease" MONDO:0019366 "ClinGen " 10933 SLC17A5 "Infantile Sialic Acid Storage Disease" MONDO_0010027 "Disgenet " 10933 SLC17A5 Sialuria MONDO_0011449 "Disgenet " 10933 SLC17A5 SD MONDO_0011449 "Disgenet " 10935 SLC18A2 Depression MONDO_0002050 "Disgenet " 10935 SLC18A2 Parkinsonism MONDO_0021095 "Disgenet " 10935 SLC18A2 PKDYS2 MONDO_0018130 "Disgenet " 10935 SLC18A2 "brain dopamine-serotonin vesicular transport disease" MONDO:0018130 "ClinGen " 10935 SLC18A2 "Brain dopamine-serotonin vesicular transport disease" MONDO_0018130 "Disgenet " 10935 SLC18A2 "Parkinson Disease" MONDO_0014796 "Disgenet " 10935 SLC18A2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 10935 SLC18A2 Alcoholism MONDO_0002046 "Disgenet " 10935 SLC18A2 "Depressive neurosis" MONDO_0002050 "Disgenet " 10935 SLC18A2 Schizophrenias MONDO_0005090 "Disgenet " 10937 SLC19A1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 10937 SLC19A1 "Childhood autism" MONDO_0005260 "Disgenet " 10937 SLC19A1 "Cleft Lip" MONDO_0004747 "Disgenet " 10937 SLC19A1 ALL MONDO_0004967 "Disgenet " 10937 SLC19A1 "Down Syndrome" MONDO_0008608 "Disgenet " 10937 SLC19A1 Adenoma MONDO_0004972 "Disgenet " 10937 SLC19A1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 10938 SLC19A2 "Thiamine-responsive megaloblastic anemia" "Disgenet " 10938 SLC19A2 "Anemia, Megaloblastic" MONDO_0001700 "Disgenet " 10938 SLC19A2 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 10938 SLC19A2 "Monogenic diabetes" MONDO_0015967 "Disgenet " 10938 SLC19A2 TRMA MONDO_0009575 "Disgenet " 10939 SLC1A1 "Inborn error of glutamic and aspartate transport" MONDO_0009110 "Disgenet " 10939 SLC1A1 Schizophrenias MONDO_0005090 "Disgenet " 10939 SLC1A1 Epilepsies MONDO_0005027 "Disgenet " 10939 SLC1A1 "Temporal lobe epilepsy" MONDO_0005115 "Disgenet " 10939 SLC1A1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 10939 SLC1A1 "dicarboxylic aminoaciduria" MONDO:0009110 "ClinGen " 10941 SLC1A3 "episodic ataxia type 6" MONDO:0012982 "ClinGen " 10941 SLC1A3 "EPISODIC ATAXIA, TYPE 6" MONDO_0012982 "Disgenet " 10941 SLC1A3 Schizophrenias MONDO_0005090 "Disgenet " 10941 SLC1A3 Epilepsies MONDO_0005027 "Disgenet " 10941 SLC1A3 "Episodic ataxia (disorder)" MONDO_0016227 "Disgenet " 10941 SLC1A3 "Childhood autism" MONDO_0005260 "Disgenet " 10941 SLC1A3 "Bipolar Disorders" MONDO_0004985 "Disgenet " 10942 SLC1A4 "spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome" MONDO:0014725 "ClinGen " 10942 SLC1A4 SPATCCM MONDO_0014725 "Disgenet " 10943 SLC1A5 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 10947 SLC20A2 "Fahr's syndrome (diagnosis)" MONDO_0008947 "Disgenet " 10947 SLC20A2 BSPDC MONDO_0008947 "Disgenet " 10955 SLCO2A1 "Hypertrophic Osteoarthropathy, Primary" MONDO_0016620 "Disgenet " 10955 SLCO2A1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 10955 SLCO2A1 "Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene (disorder)" MONDO_0018766 "Disgenet " 10955 SLCO2A1 "HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT" MONDO_0016620 "Disgenet " 10956 SLCO1A2 "Bile Duct Obstructions" MONDO_0001751 "Disgenet " 10956 SLCO1A2 CRC MONDO_0005335 "Disgenet " 10961 SLCO1B3 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 10961 SLCO1B3 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 10961 SLCO1B3 CRC MONDO_0005335 "Disgenet " 10961 SLCO1B3 "Rotor's syndrome" MONDO_0009379 "Disgenet " 10961 SLCO1B3 Bilirubinemias MONDO_0024288 "Disgenet " 10962 SLCO2B1 "Cancer, Breast" MONDO_0007254 "Disgenet " 10963 SLC22A1 Obesity MONDO_0019182 "Disgenet " 10963 SLC22A1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 10963 SLC22A1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 10964 SLC22A18 "Cancer, Breast" MONDO_0007254 "Disgenet " 10964 SLC22A18 "Breast Neoplasms" MONDO_0021100 "Disgenet " 10966 SLC22A2 Obesity MONDO_0019182 "Disgenet " 10966 SLC22A2 "Acute kidney injury" MONDO_0002492 "Disgenet " 10966 SLC22A2 Nephropathy MONDO_0005240 "Disgenet " 10966 SLC22A2 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 10967 SLC22A3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 10967 SLC22A3 Obesity MONDO_0019182 "Disgenet " 10967 SLC22A3 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 10968 SLC22A4 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 10969 SLC22A5 Cardiomyopathy MONDO_0004994 "Disgenet " 10969 SLC22A5 "INFLAMMATORY BOWEL DISEASE 5" MONDO_0011661 "Disgenet " 10969 SLC22A5 "Severe myopia (> -6.00 diopters)" "Disgenet " 10969 SLC22A5 CDSP MONDO_0008919 "Disgenet " 10969 SLC22A5 "short QT syndrome" MONDO:0000453 "ClinGen " 10969 SLC22A5 "systemic primary carnitine deficiency disease" MONDO:0008919 "ClinGen " 1097 BRAF "Costello syndrome" MONDO:0009026 "ClinGen " 1097 BRAF "Noonan syndrome" MONDO:0018997 "ClinGen " 1097 BRAF "Noonan syndrome with multiple lentigines" MONDO:0007893 "ClinGen " 1097 BRAF "cardiofaciocutaneous syndrome" MONDO:0015280 "ClinGen " 1097 BRAF "acinar cell carcinoma of pancreas" MONDO_0006346 "Disgenet " 1097 BRAF "Endometrioid carcinoma" MONDO_0002447 "Disgenet " 1097 BRAF "Bile duct adenoma" MONDO_0006108 "Disgenet " 1097 BRAF "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 1097 BRAF "Adrenal cortical carcinoma" MONDO_0006639 "Disgenet " 1097 BRAF "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 1097 BRAF "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 1097 BRAF CRC MONDO_0005335 "Disgenet " 1097 BRAF "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 1097 BRAF "CARCINOMA OF LUNG" MONDO_0005138 "Disgenet " 1097 BRAF "Cancer, Lung" MONDO_0008903 "Disgenet " 1097 BRAF "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 1097 BRAF "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 1097 BRAF Craniopharyngioma MONDO_0018907 "Disgenet " 1097 BRAF "LEOPARD SYNDROME 3" MONDO_0013380 "Disgenet " 1097 BRAF "NOONAN SYNDROME 7" MONDO_0013379 "Disgenet " 1097 BRAF "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 1097 BRAF "Pulmonary Stenosis" MONDO_0006936 "Disgenet " 1097 BRAF "LYMPHOMA, NON-HODGKIN, FAMILIAL" MONDO_0018908 "Disgenet " 1097 BRAF "Malignant neoplasm of gallbladder" MONDO_0005411 "Disgenet " 1097 BRAF "Oral Cancer" MONDO_0023644 "Disgenet " 1097 BRAF "Neuroendocrine Tumors" MONDO_0019496 "Disgenet " 1097 BRAF "Pituitary-dependent Cushing's disease" MONDO_0020528 "Disgenet " 1097 BRAF "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 1097 BRAF "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 1097 BRAF "Papillary syringadenoma" MONDO_0019392 "Disgenet " 1097 BRAF "Vascular anomaly" MONDO_0024291 "Disgenet " 1097 BRAF "Breast Neoplasms" MONDO_0021100 "Disgenet " 1097 BRAF "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1097 BRAF "Brain Neoplasms" MONDO_0021211 "Disgenet " 1097 BRAF "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 1097 BRAF "Multiple Myeloma" MONDO_0009693 "Disgenet " 1097 BRAF "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1097 BRAF "Liver Neoplasm" MONDO_0002691 "Disgenet " 1097 BRAF "Lung Neoplasm" MONDO_0002732 "Disgenet " 1097 BRAF "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 1097 BRAF "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 1097 BRAF Gliomas MONDO_0021042 "Disgenet " 1097 BRAF "Hairy Cell Leukemias" MONDO_0018935 "Disgenet " 1097 BRAF "Neoplasm, Thyroid" MONDO_0015074 "Disgenet " 1097 BRAF carcinogenesis "Disgenet " 1097 BRAF "Malignant melanoma of skin" MONDO_0005012 "Disgenet " 1097 BRAF "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 1097 BRAF "Granulomatosis, Langerhans-Cell" MONDO_0018310 "Disgenet " 1097 BRAF "Cardiofaciocutaneous Syndrome" MONDO_0007265 "Disgenet " 1097 BRAF Astrocytoma MONDO_0019781 "Disgenet " 1097 BRAF Melanoma MONDO_0005105 "Disgenet " 1097 BRAF "Papillary Thyroid Carcinoma" MONDO_0005075 "Disgenet " 1097 BRAF "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 1097 BRAF Cholangiocarcinoma MONDO_0019087 "Disgenet " 1097 BRAF "COSTELLO SYNDROME" MONDO_0009026 "Disgenet " 1097 BRAF "adenocarcinoma of large intestine (diagnosis)" MONDO_0005008 "Disgenet " 1097 BRAF "Noonan Syndrome" MONDO_0018997 "Disgenet " 1097 BRAF GPHN MONDO_0044792 "Disgenet " 1097 BRAF "multiple lentigines syndrome" MONDO_0007893 "Disgenet " 1097 BRAF "Hereditary Cutaneous Melanoma" MONDO_0018961 "Disgenet " 1097 BRAF "Global developmental delay" "Disgenet " 1097 BRAF "Intrahepatic bile duct carcinoma" MONDO_0003210 "Disgenet " 1097 BRAF "Bladder transitional cell carcinoma" MONDO_0005611 "Disgenet " 1097 BRAF "Ataxia Telangiectasia" MONDO_0008840 "Disgenet " 1097 BRAF "Glioma, malignant" MONDO_0100342 "Disgenet " 1097 BRAF "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 1097 BRAF "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 1097 BRAF "adenocarcinoma of prostate gland" MONDO_0005082 "Disgenet " 1097 BRAF Ameloblastoma MONDO_0017795 "Disgenet " 1097 BRAF RASopathy MONDO_0021060 "Disgenet " 1097 BRAF "Pleomorphic xanthoastrocytoma" MONDO_0016690 "Disgenet " 1097 BRAF "Well Differentiated Thyroid Carcinoma" MONDO_0015447 "Disgenet " 1097 BRAF "Dysembryoplastic neuroepithelial tumor" MONDO_0005505 "Disgenet " 1097 BRAF "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 1097 BRAF "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 1097 BRAF GIST MONDO_0011719 "Disgenet " 1097 BRAF Glioblastoma MONDO_0018177 "Disgenet " 1097 BRAF "Lymphatic Metastases" "Disgenet " 1097 BRAF "Squamous cell carcinoma of skin" MONDO_0002529 "Disgenet " 1097 BRAF "Kidney Neoplasm" MONDO_0002367 "Disgenet " 1097 BRAF Nephroblastoma MONDO_0019004 "Disgenet " 1097 BRAF "Cancer, Ovarian" MONDO_0008170 "Disgenet " 10973 SLC23A2 "Bile Duct Obstructions" MONDO_0001751 "Disgenet " 10975 SLC24A1 "inherited retinal dystrophy" MONDO:0019118 "ClinGen " 10975 SLC24A1 "CSNB - Congenital stationary night blindness" MONDO_0016293 "Disgenet " 10978 SLC24A4 "AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5" MONDO_0014385 "Disgenet " 10978 SLC24A4 "Amelogenesis Imperfecta hypomaturation type" MONDO_0015048 "Disgenet " 10978 SLC24A4 "Amelogenesis Imperfecta" MONDO_0007092 "Disgenet " 10979 SLC25A1 2-Hydroxyglutaricaciduria MONDO_0016001 "Disgenet " 10979 SLC25A1 "mitochondrial disease" MONDO:0044970 "ClinGen " 10979 SLC25A1 "CONGEN MYASTHENIA GRAVIS" MONDO_0018940 "Disgenet " 10979 SLC25A1 "COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA" MONDO_0016001 "Disgenet " 10980 SLC25A10 "mitochondrial disease" MONDO:0044970 "ClinGen " 10981 SLC25A11 Paraganglioma MONDO_0000448 "Disgenet " 10982 SLC25A12 "mitochondrial disease" MONDO:0044970 "ClinGen " 10982 SLC25A12 "Childhood autism" MONDO_0005260 "Disgenet " 10982 SLC25A12 "AGC1 Deficiency" MONDO_0013056 "Disgenet " 10982 SLC25A12 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 10983 SLC25A13 "Citrin deficiency (disorder)" MONDO_0016602 "Disgenet " 10983 SLC25A13 CTLN1 MONDO_0008988 "Disgenet " 10983 SLC25A13 "citrin deficiency" MONDO:0016602 "ClinGen " 10983 SLC25A13 "CITRULLINEMIA, TYPE II, NEONATAL-ONSET" MONDO_0011601 "Disgenet " 10983 SLC25A13 "CITRULLINEMIA, TYPE II, ADULT-ONSET" MONDO_0011326 "Disgenet " 10983 SLC25A13 Citrullinemia MONDO_0015991 "Disgenet " 10985 SLC25A15 HHHS MONDO_0009393 "Disgenet " 10985 SLC25A15 "ornithine translocase deficiency" MONDO:0009393 "ClinGen " 10989 SLC25A3 "mitochondrial disease" MONDO:0044970 "ClinGen " 10990 SLC25A4 "Leigh syndrome" MONDO:0009723 "ClinGen " 10990 SLC25A4 "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive" MONDO:0014175 "ClinGen " 10990 SLC25A4 MTDPS12B MONDO_0014175 "Disgenet " 10990 SLC25A4 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 10990 SLC25A4 "Bipolar Disorders" MONDO_0004985 "Disgenet " 10990 SLC25A4 "Progressive external ophthalmoplegia" MONDO_0019016 "Disgenet " 10990 SLC25A4 "Sengers syndrome" MONDO_0008922 "Disgenet " 10990 SLC25A4 "MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT" MONDO_0014959 "Disgenet " 10990 SLC25A4 PEOA2 MONDO_0012238 "Disgenet " 10990 SLC25A4 "Mitochondrial dysfunction" MONDO_0004069 "Disgenet " 10990 SLC25A4 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 10990 SLC25A4 "adPEO - autosomal dominant progressive external ophthalmoplegia" MONDO_0008003 "Disgenet " 10990 SLC25A4 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 10990 SLC25A4 "Mitochondrial Myopathies" MONDO_0009637 "Disgenet " 10993 SLC26A1 Hyperoxaluria MONDO_0002474 "Disgenet " 10993 SLC26A1 Urolithiases MONDO_0024647 "Disgenet " 10993 SLC26A1 "Calcium oxalate nephrolithiasis" MONDO_0957318 "Disgenet " 10994 SLC26A2 "SLC26A2-related skeletal dysplasia" MONDO:0100592 "ClinGen " 10994 SLC26A2 Atelosteogenesis MONDO_0000389 "Disgenet " 10994 SLC26A2 "Multiple epiphyseal dysplasia" MONDO_0016648 "Disgenet " 10994 SLC26A2 Achondrogenesis MONDO_0019648 "Disgenet " 10994 SLC26A2 Osteochondrodysplasia MONDO_0005516 "Disgenet " 10994 SLC26A2 "DE LA CHAPELLE DYSPLASIA" MONDO_0009727 "Disgenet " 10994 SLC26A2 Spondylolyses MONDO_0005541 "Disgenet " 10994 SLC26A2 "DIASTROPHIC DYSPLASIA" MONDO_0009107 "Disgenet " 10994 SLC26A2 EDM4 MONDO_0009189 "Disgenet " 10994 SLC26A2 "ACHONDROGENESIS, TYPE IB" MONDO_0010966 "Disgenet " 10994 SLC26A2 "ATELOSTEOGENESIS, TYPE II" MONDO_0000389 "Disgenet " 10998 SLC27A4 "ICHTHYOSIS PREMATURITY SYNDROME" MONDO_0012089 "Disgenet " 1100 BRCA1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 1100 BRCA1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1100 BRCA1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 1100 BRCA1 "ovarian epithelial cancer" MONDO_0005140 "Disgenet " 1100 BRCA1 "Hereditary Breast and Ovarian Cancer Syndrome" MONDO_0003582 "Disgenet " 1100 BRCA1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 1100 BRCA1 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 1100 BRCA1 "Cancer, Breast" MONDO_0007254 "Disgenet " 1100 BRCA1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 1100 BRCA1 "Triple-Negative Breast Cancers" MONDO_0005494 "Disgenet " 1100 BRCA1 "Breast cancer (ductal)" MONDO_0004953 "Disgenet " 1100 BRCA1 "Serous surface papillary carcinoma" MONDO_0002368 "Disgenet " 1100 BRCA1 "Fanconi Anemia" MONDO_0019391 "Disgenet " 1100 BRCA1 "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 1100 BRCA1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 1100 BRCA1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 1100 BRCA1 "Sporadic Breast Cancer" MONDO_0004438 "Disgenet " 1100 BRCA1 "Pancreatic carcinoma" MONDO_0005192 "Disgenet " 1100 BRCA1 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 1100 BRCA1 "Malignant neoplasm of pancreas" MONDO_0021040 "Disgenet " 1100 BRCA1 "familial cancer of breast" MONDO_0016419 "Disgenet " 1100 BRCA1 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 1100 BRCA1 Depression MONDO_0002050 "Disgenet " 1100 BRCA1 "Depressive neurosis" MONDO_0002050 "Disgenet " 1100 BRCA1 "Hereditary prostate cancer" MONDO_0023122 "Disgenet " 1100 BRCA1 "FANCONI ANEMIA, COMPLEMENTATION GROUP S" MONDO_0054748 "Disgenet " 1100 BRCA1 "Malignant neoplasm of peritoneum, unspecified" MONDO_0002087 "Disgenet " 1100 BRCA1 "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 1100 BRCA1 "bilateral breast cancer" MONDO_0003982 "Disgenet " 1100 BRCA1 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 1100 BRCA1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 1100 BRCA1 Epithelioma MONDO_0004993 "Disgenet " 1100 BRCA1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 1100 BRCA1 Rhabdomyosarcoma MONDO_0005212 "Disgenet " 1100 BRCA1 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 1100 BRCA1 Cholangiocarcinoma MONDO_0019087 "Disgenet " 1100 BRCA1 "Malignant neoplasm of cervix uteri" MONDO_0002974 "Disgenet " 1100 BRCA1 "Hereditary Pancreatic Carcinoma" MONDO_0015278 "Disgenet " 1100 BRCA1 "Cancer, Lung" MONDO_0008903 "Disgenet " 1100 BRCA1 "Carcinomas, Infiltrating Duct" MONDO_0005590 "Disgenet " 1100 BRCA1 "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 1100 BRCA1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 1100 BRCA1 Carcinoma MONDO_0004993 "Disgenet " 1100 BRCA1 "Cancer Syndrome, Hereditary" MONDO_0015356 "Disgenet " 1100 BRCA1 "Fanconi anemia, complementation group S" MONDO:0054748 "ClinGen " 1100 BRCA1 "BRCA1-related cancer predisposition" MONDO:0700268 "ClinGen " 11003 SLC29A1 CRC MONDO_0005335 "Disgenet " 11003 SLC29A1 "Chorea, Huntington" MONDO_0011671 "Disgenet " 11003 SLC29A1 Alcoholism MONDO_0002046 "Disgenet " 11003 SLC29A1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 11005 SLC2A1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11005 SLC2A1 "Global developmental delay" "Disgenet " 11005 SLC2A1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 11005 SLC2A1 "Mesothelioma, malignant" MONDO_0006292 "Disgenet " 11005 SLC2A1 pyknolepsy MONDO_0010826 "Disgenet " 11005 SLC2A1 "Hereditary cryohydrocytosis type 2" MONDO_0012143 "Disgenet " 11005 SLC2A1 "Diseases, Nervous System" MONDO_0005071 "Disgenet " 11005 SLC2A1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 11005 SLC2A1 "Glucose transport defect, blood-brain barrier" MONDO_0011724 "Disgenet " 11005 SLC2A1 DYT9 MONDO_0010983 "Disgenet " 11005 SLC2A1 Microcephalies MONDO_0001149 "Disgenet " 11005 SLC2A1 Obesity MONDO_0019182 "Disgenet " 11005 SLC2A1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 11005 SLC2A1 "Paroxysmal dystonia, exercise-induced" MONDO_0012805 "Disgenet " 11005 SLC2A1 Epilepsies MONDO_0005027 "Disgenet " 11005 SLC2A1 "GLUT1 deficiency syndrome" MONDO:0000188 "ClinGen " 11005 SLC2A1 Meningomyelocele MONDO_0017069 "Disgenet " 11005 SLC2A1 "Carcinoma, Intraductal, Noninfiltrating" MONDO_0005023 "Disgenet " 11005 SLC2A1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 11005 SLC2A1 "GLUT1 DEFICIENCY SYNDROME 1" MONDO_0000188 "Disgenet " 11005 SLC2A1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11005 SLC2A1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 11005 SLC2A1 "Astatic Epilepsies, Myoclonic" MONDO_0014633 "Disgenet " 11005 SLC2A1 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 11005 SLC2A1 "Absence Epilepsy" MONDO_0010826 "Disgenet " 11006 SLC2A2 "Renal tubular Fanconi syndrome" MONDO_0060778 "Disgenet " 11006 SLC2A2 "Fanconi Syndrome" MONDO_0001083 "Disgenet " 11006 SLC2A2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 11006 SLC2A2 "Monogenic diabetes" MONDO_0015967 "Disgenet " 11006 SLC2A2 "FANCONI-BICKEL SYNDROME" MONDO_0001083 "Disgenet " 11006 SLC2A2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 11006 SLC2A2 "Diseases, Glycogen Storage" MONDO_0010362 "Disgenet " 11006 SLC2A2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11007 SLC2A3 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 11007 SLC2A3 "Chorea, Huntington" MONDO_0011671 "Disgenet " 11009 SLC2A4 "Alzheimer Disease" MONDO_0012630 "Disgenet " 11009 SLC2A4 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 1101 BRCA2 "FANCONI ANEMIA, COMPLEMENTATION GROUP D1" MONDO_0011584 "Disgenet " 1101 BRCA2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1101 BRCA2 "Cancer, Breast" MONDO_0007254 "Disgenet " 1101 BRCA2 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 1101 BRCA2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 1101 BRCA2 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 1101 BRCA2 "Malignant neoplasm of pancreas" MONDO_0021040 "Disgenet " 1101 BRCA2 Melanoma MONDO_0005105 "Disgenet " 1101 BRCA2 "Fanconi Anemia" MONDO_0019391 "Disgenet " 1101 BRCA2 "Hereditary Breast and Ovarian Cancer Syndrome" MONDO_0003582 "Disgenet " 1101 BRCA2 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 1101 BRCA2 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 1101 BRCA2 Medulloblastoma MONDO_0007959 "Disgenet " 1101 BRCA2 "Neuroectodermal Tumor, Primitive" MONDO_0005462 "Disgenet " 1101 BRCA2 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 1101 BRCA2 "familial cancer of breast" MONDO_0016419 "Disgenet " 1101 BRCA2 Nephroblastoma MONDO_0019004 "Disgenet " 1101 BRCA2 "Pancreatic carcinoma" MONDO_0005192 "Disgenet " 1101 BRCA2 "Lung Neoplasm" MONDO_0002732 "Disgenet " 1101 BRCA2 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 1101 BRCA2 "Malignant neoplasm of esophagus" MONDO_0007576 "Disgenet " 1101 BRCA2 "Carcinomas, Infiltrating Duct" MONDO_0005590 "Disgenet " 1101 BRCA2 "Breast cancer (ductal)" MONDO_0004953 "Disgenet " 1101 BRCA2 "Invasive Lobular Breast Carcinoma" MONDO_0005051 "Disgenet " 1101 BRCA2 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 1101 BRCA2 "Familial Malignant Neoplasm" "Disgenet " 1101 BRCA2 "Cancer, Lung" MONDO_0008903 "Disgenet " 1101 BRCA2 "Hereditary Pancreatic Carcinoma" MONDO_0015278 "Disgenet " 1101 BRCA2 Endometrium MONDO_0011962 "Disgenet " 1101 BRCA2 "Hereditary prostate cancer" MONDO_0023122 "Disgenet " 1101 BRCA2 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 1101 BRCA2 "Cancer Syndrome, Hereditary" MONDO_0015356 "Disgenet " 1101 BRCA2 "invasive breast cancer" MONDO_0006256 "Disgenet " 1101 BRCA2 "Childhood Renal Wilms' Tumor" MONDO_0024676 "Disgenet " 1101 BRCA2 "Carcinoma, Intraductal, Noninfiltrating" MONDO_0005023 "Disgenet " 1101 BRCA2 "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 1101 BRCA2 "bilateral breast cancer" MONDO_0003982 "Disgenet " 1101 BRCA2 "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 1101 BRCA2 "papillary carcinoma of uterus" MONDO_0006196 "Disgenet " 1101 BRCA2 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 1101 BRCA2 Gliomas MONDO_0021042 "Disgenet " 1101 BRCA2 "Pancreatic Endocrine Neoplasm" MONDO_0005815 "Disgenet " 1101 BRCA2 "Malignant melanoma of skin" MONDO_0005012 "Disgenet " 1101 BRCA2 "MELANOMA, UVEAL" MONDO_0006486 "Disgenet " 1101 BRCA2 Obesity MONDO_0019182 "Disgenet " 1101 BRCA2 "Fanconi anemia complementation group D1" MONDO:0011584 "ClinGen " 1101 BRCA2 "BRCA2-related cancer predisposition" MONDO:0700269 "ClinGen " 1101 BRCA2 Cholangiocarcinoma MONDO_0019087 "Disgenet " 11010 SLC2A5 "Breast Neoplasms" MONDO_0021100 "Disgenet " 11013 SLC30A2 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 11013 SLC30A2 "zinc deficiency, transient neonatal" MONDO:0011973 "ClinGen " 11014 SLC30A3 Schizophrenias MONDO_0005090 "Disgenet " 11015 SLC30A4 "Alzheimer Disease" MONDO_0012630 "Disgenet " 1102 BRD1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 1102 BRD1 Schizophrenias MONDO_0005090 "Disgenet " 11020 SLC34A2 "Pulmonary alveolar microlithiasis" MONDO_0009928 "Disgenet " 11020 SLC34A2 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 11021 SLC35A1 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 11021 SLC35A1 CDGIIf MONDO_0011342 "Disgenet " 11023 SLC35A3 Arthrogryposes MONDO_0015168 "Disgenet " 11025 SLC3A1 "Atypical hypotonia cystinuria syndrome (disorder)" MONDO_0016539 "Disgenet " 11025 SLC3A1 "2p21 microdeletion syndrome (disorder)" MONDO_0015583 "Disgenet " 11025 SLC3A1 Cystinuria MONDO_0009067 "Disgenet " 11025 SLC3A1 Nephrolithiasis MONDO_0008171 "Disgenet " 11025 SLC3A1 "CYSTINURIA, TYPE A" MONDO_0019745 "Disgenet " 11025 SLC3A1 cystinuria MONDO:0009067 "ClinGen " 11026 SLC3A2 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 11026 SLC3A2 "Lung Neoplasm" MONDO_0002732 "Disgenet " 11027 SLC4A1 "Renal Tubular Acidosis, Type I" MONDO_0015827 "Disgenet " 11027 SLC4A1 "Elliptocytoses, Hereditary" MONDO_0008165 "Disgenet " 11027 SLC4A1 "Renal tubular acidosis" MONDO_0001909 "Disgenet " 11027 SLC4A1 "RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE" MONDO_0018440 "Disgenet " 11027 SLC4A1 "Anemia, Hemolytic" MONDO_0003664 "Disgenet " 11027 SLC4A1 "Hereditary spherocytosis" MONDO_0019350 "Disgenet " 11027 SLC4A1 "Elliptocytosis 4" MONDO_0008165 "Disgenet " 11027 SLC4A1 "Anemia, Congenital Hemolytic" MONDO_0003689 "Disgenet " 11027 SLC4A1 SPH4 MONDO_0012981 "Disgenet " 11027 SLC4A1 "Stomatocytosis, cold-sensitive" MONDO_0008494 "Disgenet " 11028 SLC4A2 "Polycystic Kidney, Autosomal Recessive" MONDO_0009889 "Disgenet " 11028 SLC4A2 "primary biliary cirrhosis" MONDO_0005388 "Disgenet " 11028 SLC4A2 "Albers Schoenberg Disease" MONDO_0012859 "Disgenet " 11029 SLC4A3 "Short QT Syndrome" MONDO_0000453 "Disgenet " 11029 SLC4A3 "short QT syndrome" MONDO:0000453 "ClinGen " 1103 BRD2 Glioblastoma MONDO_0018177 "Disgenet " 1103 BRD2 "Glioblastoma multiforme" MONDO_0018177 "Disgenet " 1103 BRD2 "juvenile myoclonic epilepsy" MONDO_0009696 "Disgenet " 11030 SLC4A4 "Renal tubular acidosis" MONDO_0001909 "Disgenet " 11030 SLC4A4 Glaucomas MONDO_0005041 "Disgenet " 11030 SLC4A4 "Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation" MONDO_0011422 "Disgenet " 11036 SLC5A1 "Glucose-galactose malabsorption" MONDO_0011731 "Disgenet " 11040 SLC5A5 "Neoplasm, Thyroid" MONDO_0015074 "Disgenet " 11040 SLC5A5 Cholangiocarcinoma MONDO_0019087 "Disgenet " 11040 SLC5A5 Melanoma MONDO_0005105 "Disgenet " 11040 SLC5A5 "Glioma, malignant" MONDO_0100342 "Disgenet " 11040 SLC5A5 Gliomas MONDO_0021042 "Disgenet " 11040 SLC5A5 "thyroid dyshormonogenesis" MONDO_0010132 "Disgenet " 11040 SLC5A5 "THYROID DYSHORMONOGENESIS 1" MONDO_0020716 "Disgenet " 11040 SLC5A5 "Breast Neoplasms" MONDO_0021100 "Disgenet " 11040 SLC5A5 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11040 SLC5A5 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11040 SLC5A5 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 11040 SLC5A5 "Congenital hypothyroidism" MONDO_0010142 "Disgenet " 11042 SLC6A1 "Astatic Epilepsies, Myoclonic" MONDO_0014633 "Disgenet " 11042 SLC6A1 Schizophrenias MONDO_0005090 "Disgenet " 11042 SLC6A1 "Global developmental delay" "Disgenet " 11042 SLC6A1 Epilepsies MONDO_0005027 "Disgenet " 11042 SLC6A1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 11042 SLC6A1 Alcoholism MONDO_0002046 "Disgenet " 11042 SLC6A1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11042 SLC6A1 "Depressive neurosis" MONDO_0002050 "Disgenet " 11042 SLC6A1 Depression MONDO_0002050 "Disgenet " 11045 SLC6A12 Schizophrenias MONDO_0005090 "Disgenet " 11046 SLC6A13 "Bipolar Disorders" MONDO_0004985 "Disgenet " 11047 SLC6A14 Obesity MONDO_0019182 "Disgenet " 11047 SLC6A14 "Cystic Fibrosis" MONDO_0009061 "Disgenet " 11050 SLC6A4 "treatment resistant depression" "Disgenet " 11050 SLC6A4 "depression recurrent" "Disgenet " 11050 SLC6A4 "Abuse, Marihuana" MONDO_0005689 "Disgenet " 11050 SLC6A4 "cannabis use (diagnosis)" "Disgenet " 11050 SLC6A4 "Attention-Deficit Disorder NOS" MONDO_0005302 "Disgenet " 11050 SLC6A4 "Affective Disorder, Psychotic" "Disgenet " 11050 SLC6A4 "severe depression" "Disgenet " 11050 SLC6A4 "Asperger syndrome" MONDO_0005259 "Disgenet " 11050 SLC6A4 "Abuse, Drug" MONDO_0002491 "Disgenet " 11050 SLC6A4 "depression chronic" "Disgenet " 11050 SLC6A4 Melancholia MONDO_0002050 "Disgenet " 11050 SLC6A4 Dysphoria "Disgenet " 11050 SLC6A4 "Generalized anxiety disorder" MONDO_0001942 "Disgenet " 11050 SLC6A4 "behavior disorder" MONDO_0002025 "Disgenet " 11050 SLC6A4 "Major depressive disorder, recurrent episode, unspecified degree" MONDO_0002009 "Disgenet " 11050 SLC6A4 "autism spectrum disorder" MONDO:0005258 "ClinGen " 11050 SLC6A4 "Depressive neurosis" MONDO_0002050 "Disgenet " 11050 SLC6A4 Depression MONDO_0002050 "Disgenet " 11050 SLC6A4 "Anxiety Disorder" MONDO_0005618 "Disgenet " 11050 SLC6A4 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 11050 SLC6A4 "Bipolar Disorders" MONDO_0004985 "Disgenet " 11050 SLC6A4 "Disorders, Obsessive-Compulsive" MONDO_0008114 "Disgenet " 11050 SLC6A4 COPD MONDO_0005002 "Disgenet " 11050 SLC6A4 "Bipolar Depression" MONDO_0004985 "Disgenet " 11050 SLC6A4 "Obstructive sleep apnea syndrome" MONDO_0007147 "Disgenet " 11050 SLC6A4 "Affective Disorders" MONDO_0005371 "Disgenet " 11050 SLC6A4 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 11050 SLC6A4 "Depressed mood" "Disgenet " 11050 SLC6A4 "Childhood autism" MONDO_0005260 "Disgenet " 11050 SLC6A4 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 11050 SLC6A4 "Depression, Post-Natal" MONDO_0005929 "Disgenet " 11050 SLC6A4 "Affective Disorder, Seasonal" MONDO_0000694 "Disgenet " 11050 SLC6A4 Alcoholism MONDO_0002046 "Disgenet " 11050 SLC6A4 SIDS "Disgenet " 11050 SLC6A4 "Major depressive disorder, single episode, unspecified degree" MONDO_0002050 "Disgenet " 11050 SLC6A4 Schizophrenias MONDO_0005090 "Disgenet " 11050 SLC6A4 "Abuse, Alcohol" MONDO_0002046 "Disgenet " 11050 SLC6A4 Asthma MONDO_0004979 "Disgenet " 11050 SLC6A4 "Cocaine dependence" MONDO_0005186 "Disgenet " 11050 SLC6A4 "Chronic Fatigue Syndrome" MONDO_0005404 "Disgenet " 11050 SLC6A4 Alexithymias MONDO_0000661 "Disgenet " 11050 SLC6A4 "Alcoholic Intoxication" "Disgenet " 11050 SLC6A4 Anhedonia "Disgenet " 11051 SLC6A5 "Moersch Woltmann Syndrome" MONDO_0008491 "Disgenet " 11051 SLC6A5 Schizophrenias MONDO_0005090 "Disgenet " 11051 SLC6A5 HKPX3 MONDO_0013827 "Disgenet " 11051 SLC6A5 "Kok disease" MONDO_0021022 "Disgenet " 11052 SLC6A6 "hypotaurinemic retinal degeneration and cardiomyopathy" MONDO:0007777 "ClinGen " 11055 SLC6A8 "creatine transporter deficiency" MONDO:0010305 "ClinGen " 11055 SLC6A8 "Creatine deficiency, X-linked" MONDO_0000456 "Disgenet " 11055 SLC6A8 "Child Development Disorder" MONDO_0005287 "Disgenet " 11055 SLC6A8 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11055 SLC6A8 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 11055 SLC6A8 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 11055 SLC6A8 "Childhood autism" MONDO_0005260 "Disgenet " 11056 SLC6A9 Schizophrenias MONDO_0005090 "Disgenet " 11056 SLC6A9 "atypical glycine encephalopathy" MONDO:0015010 "ClinGen " 11056 SLC6A9 "Unspecified nonorganic psychosis" "Disgenet " 11056 SLC6A9 Psychosis MONDO_0005485 "Disgenet " 11057 SLC7A1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11063 SLC7A5 "Lung Neoplasm" MONDO_0002732 "Disgenet " 11063 SLC7A5 Cholangiocarcinoma MONDO_0019087 "Disgenet " 11063 SLC7A5 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11063 SLC7A5 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 11065 SLC7A7 "lysinuric protein intolerance" MONDO:0009109 "ClinGen " 11065 SLC7A7 "Lysinuric protein intolerance" MONDO_0009109 "Disgenet " 11068 SLC8A1 "Status Epilepticus" MONDO_0002125 "Disgenet " 11068 SLC8A1 "High blood pressure" MONDO_0005044 "Disgenet " 11071 SLC9A1 SCAR19 MONDO_0014572 "Disgenet " 11071 SLC9A1 "Heart failure" MONDO_0005252 "Disgenet " 11071 SLC9A1 "Congestive heart failure" MONDO_0005252 "Disgenet " 11071 SLC9A1 "Lichtenstein-Knorr syndrome" MONDO:0014572 "ClinGen " 11073 SLC9A3 CSD MONDO_0014808 "Disgenet " 11073 SLC9A3 "Defective Na+/H+ exchange in jejunum and ileum" MONDO_0015170 "Disgenet " 11073 SLC9A3 "Cystic Fibrosis" MONDO_0009061 "Disgenet " 11075 NHERF1 "NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2" MONDO_0012851 "Disgenet " 11075 NHERF1 Nephrolithiasis MONDO_0008171 "Disgenet " 11076 NHERF2 "High blood pressure" MONDO_0005044 "Disgenet " 11079 SLC9A6 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 11079 SLC9A6 "Christianson syndrome" MONDO:0010278 "ClinGen " 11079 SLC9A6 "Global developmental delay" "Disgenet " 11079 SLC9A6 MRXSCH MONDO_0010278 "Disgenet " 11079 SLC9A6 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11079 SLC9A6 "Childhood autism" MONDO_0005260 "Disgenet " 1108 ZFP36L2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11086 SLIT2 "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 11086 SLIT2 "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 11086 SLIT2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11087 SLIT3 Schizophrenias MONDO_0005090 "Disgenet " 11094 SNAI2 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 11094 SNAI2 "Papillary Thyroid Carcinoma" MONDO_0005075 "Disgenet " 11094 SNAI2 "Waardenburg Syndrome Type II" MONDO_0019517 "Disgenet " 11094 SNAI2 "Syndrome, Waardenburg's" MONDO_0018094 "Disgenet " 11094 SNAI2 "Waardenburg syndrome" MONDO:0018094 "ClinGen " 11094 SNAI2 "Cutaneous Albinism" MONDO_0008244 "Disgenet " 11094 SNAI2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 11097 SMARCA1 "X LINKED MENTAL RETARDATION DIS" MONDO_0010341 "Disgenet " 11097 SMARCA1 "X-linked intellectual disability" MONDO:0100284 "ClinGen " 11097 SMARCA1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11098 SMARCA2 "Coffin-Siris syndrome" MONDO_0015452 "Disgenet " 11098 SMARCA2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11098 SMARCA2 "BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME" MONDO_0859139 "Disgenet " 11098 SMARCA2 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 11098 SMARCA2 "intellectual disability-sparse hair-brachydactyly syndrome" MONDO:0011053 "ClinGen " 11098 SMARCA2 "Child Development Disorder" MONDO_0005287 "Disgenet " 11098 SMARCA2 Schizophrenias MONDO_0005090 "Disgenet " 11098 SMARCA2 "NICOLAIDES-BARAITSER SYNDROME" MONDO_0011053 "Disgenet " 11098 SMARCA2 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 11099 HLTF "Kidney Neoplasm" MONDO_0002367 "Disgenet " 11100 SMARCA4 "Global developmental delay" "Disgenet " 11100 SMARCA4 "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 11100 SMARCA4 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 11100 SMARCA4 MRD16 MONDO_0013821 "Disgenet " 11100 SMARCA4 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 11100 SMARCA4 "Rhabdoid Tumor" MONDO_0002728 "Disgenet " 11100 SMARCA4 "small cell carcinoma of ovary (diagnosis)" MONDO_0003795 "Disgenet " 11100 SMARCA4 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 11100 SMARCA4 "SMARCA4-deficient thoracic sarcoma" MONDO_0018761 "Disgenet " 11100 SMARCA4 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11100 SMARCA4 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11100 SMARCA4 "RHABDOID TUMOR PREDISPOSITION SYNDROME 2" MONDO_0013224 "Disgenet " 11100 SMARCA4 "Coffin-Siris syndrome" MONDO_0015452 "Disgenet " 11100 SMARCA4 "Neoplasm, Thoracic" MONDO_0003274 "Disgenet " 11100 SMARCA4 Neuroblastoma MONDO_0005072 "Disgenet " 11100 SMARCA4 "Burkitt Lymphoma" MONDO_0007243 "Disgenet " 11100 SMARCA4 "Pediatric Neoplasm" MONDO_0021079 "Disgenet " 11100 SMARCA4 "Rhabdoid Tumor Predisposition Syndrome" MONDO_0016473 "Disgenet " 11100 SMARCA4 "hereditary nonpolyposis colon cancer" MONDO:0018630 "ClinGen " 11100 SMARCA4 "Coffin-Siris syndrome" MONDO:0015452 "ClinGen " 11100 SMARCA4 "rhabdoid tumor predisposition syndrome 2" MONDO:0013224 "ClinGen " 11101 SMARCA5 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 11101 SMARCA5 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11101 SMARCA5 "Global developmental delay" "Disgenet " 11102 SMARCAL1 "Schimke immuno-osseous dysplasia" MONDO:0009458 "ClinGen " 11102 SMARCAL1 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 11102 SMARCAL1 Nephropathy MONDO_0005240 "Disgenet " 11102 SMARCAL1 "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 11102 SMARCAL1 SIOD MONDO_0009458 "Disgenet " 11103 SMARCB1 AT/RT MONDO_0020560 "Disgenet " 11103 SMARCB1 "Rhabdoid Tumor" MONDO_0002728 "Disgenet " 11103 SMARCB1 "Coffin-Siris syndrome" MONDO_0015452 "Disgenet " 11103 SMARCB1 "rhabdoid tumor predisposition syndrome 1" MONDO:0012252 "ClinGen " 11103 SMARCB1 "Coffin-Siris syndrome" MONDO:0015452 "ClinGen " 11103 SMARCB1 "Rhabdoid Tumor Predisposition Syndrome" MONDO_0016473 "Disgenet " 11103 SMARCB1 "Neurofibromatosis 2" MONDO_0007039 "Disgenet " 11103 SMARCB1 Neurilemmoma MONDO_0002546 "Disgenet " 11103 SMARCB1 MRD15 MONDO_0013820 "Disgenet " 11103 SMARCB1 RTPS1 MONDO_0016473 "Disgenet " 11103 SMARCB1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11103 SMARCB1 "Central Nervous System Neoplasms" MONDO_0006130 "Disgenet " 11103 SMARCB1 "TERATOID TUMOR, ATYPICAL" "Disgenet " 11103 SMARCB1 Meningiomas MONDO_0016642 "Disgenet " 11103 SMARCB1 Neurinomatosis MONDO_0008075 "Disgenet " 11104 SMARCC1 "SMARCC1-associated developmental dysgenesis syndrome" MONDO:0700123 "ClinGen " 11104 SMARCC1 Hydrocephaly MONDO_0001150 "Disgenet " 11104 SMARCC1 "Congenital hydrocephalus" MONDO_0016349 "Disgenet " 11105 SMARCC2 "COFFIN-SIRIS SYNDROME 8" MONDO_0032702 "Disgenet " 11105 SMARCC2 "Coffin-Siris syndrome" MONDO:0015452 "ClinGen " 11105 SMARCC2 "Coffin-Siris syndrome" MONDO_0015452 "Disgenet " 11106 SMARCD1 "COFFIN-SIRIS SYNDROME 11" MONDO_0032912 "Disgenet " 11107 SMARCD2 Neutropenia MONDO_0001475 "Disgenet " 11109 SMARCE1 CSS5 MONDO_0014838 "Disgenet " 11109 SMARCE1 Meningiomas MONDO_0016642 "Disgenet " 11109 SMARCE1 "Coffin-Siris syndrome" MONDO_0015452 "Disgenet " 11109 SMARCE1 "familial meningioma" MONDO:0011789 "ClinGen " 11109 SMARCE1 "Coffin-Siris syndrome" MONDO:0015452 "ClinGen " 11109 SMARCE1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11110 ARID1A "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 11110 ARID1A "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11110 ARID1A "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11110 ARID1A "adenocarcinoma of esophagus (diagnosis)" MONDO_0005028 "Disgenet " 11110 ARID1A "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 11110 ARID1A "Burkitt Lymphoma" MONDO_0007243 "Disgenet " 11110 ARID1A "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 11110 ARID1A "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11110 ARID1A "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 11110 ARID1A "Coffin-Siris syndrome" MONDO_0015452 "Disgenet " 11110 ARID1A "Coffin-Siris syndrome" MONDO:0015452 "ClinGen " 11110 ARID1A Cholangiocarcinoma MONDO_0019087 "Disgenet " 11110 ARID1A "Ovarian clear cell carcinoma" "Disgenet " 11110 ARID1A "Breast Neoplasms" MONDO_0021100 "Disgenet " 11110 ARID1A "Cancer, Breast" MONDO_0007254 "Disgenet " 11110 ARID1A "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 11110 ARID1A "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 11110 ARID1A "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11110 ARID1A Neuroblastoma MONDO_0005072 "Disgenet " 11110 ARID1A "Endometrial Endometrioid Carcinoma" MONDO_0006192 "Disgenet " 11110 ARID1A "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 11110 ARID1A "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 11110 ARID1A Adenocarcinoma MONDO_0004970 "Disgenet " 11110 ARID1A "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 11114 KDM5C "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11114 KDM5C "X-linked syndromic intellectual disability" MONDO:0020119 "ClinGen " 11114 KDM5C "Unspecified mental retardation" MONDO_0001071 "Disgenet " 11114 KDM5C "KDM5C-related syndromic X-linked intellectual disability" MONDO_0010355 "Disgenet " 11114 KDM5C "Childhood autism" MONDO_0005260 "Disgenet " 11114 KDM5C "Renal cell carcinoma" MONDO_0005549 "Disgenet " 11114 KDM5C "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 11114 KDM5C MRXSCJ MONDO_0010355 "Disgenet " 11117 SMN1 "SPINAL MUSCULAR ATROPHY, TYPE II" MONDO_0009673 "Disgenet " 11117 SMN1 "Atrophy, Spinal Muscular" MONDO_0001516 "Disgenet " 11117 SMN1 "Werdnig Hoffmann Disease" MONDO_0009669 "Disgenet " 11117 SMN1 "SPINAL MUSCULAR ATROPHY, TYPE III" MONDO_0009672 "Disgenet " 11117 SMN1 "SPINAL MUSCULAR ATROPHY, TYPE IV" MONDO_0010056 "Disgenet " 11118 SMN2 "Werdnig Hoffmann Disease" MONDO_0009669 "Disgenet " 11118 SMN2 "SPINAL MUSCULAR ATROPHY, TYPE III" MONDO_0009672 "Disgenet " 11118 SMN2 "Atrophy, Spinal Muscular" MONDO_0001516 "Disgenet " 11118 SMN2 "SPINAL MUSCULAR ATROPHY, TYPE II" MONDO_0009673 "Disgenet " 11119 SMO "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 11119 SMO Ameloblastoma MONDO_0017795 "Disgenet " 11119 SMO "Mesothelioma of pleura" MONDO_0005112 "Disgenet " 11119 SMO "Basal cell carcinoma" MONDO_0020804 "Disgenet " 11119 SMO Medulloblastoma MONDO_0007959 "Disgenet " 11119 SMO Meningiomas MONDO_0016642 "Disgenet " 11119 SMO "Winter Shortland Temple syndrome" MONDO_0011134 "Disgenet " 11119 SMO "Neoplasms, Basal Cell" MONDO_0005341 "Disgenet " 11119 SMO "Hypothalamic hamartoma" MONDO_0009436 "Disgenet " 11119 SMO "congenital hypothalamic hamartoma syndrome" MONDO:0009436 "ClinGen " 11119 SMO "mosaic SMO syndrome" MONDO:1030005 "ClinGen " 1112 NCAPH "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11120 SMPD1 "acid sphingomyelinase deficiency" MONDO:0100464 "ClinGen " 11120 SMPD1 "Gaucher Disease" MONDO_0018150 "Disgenet " 11120 SMPD1 "Acid sphingomyelinase deficiency" MONDO_0001982 "Disgenet " 11120 SMPD1 "Classical Niemann Pick Disease" MONDO_0009756 "Disgenet " 11120 SMPD1 "Niemann Pick Disease, Non Neuronopathic Type" MONDO_0011871 "Disgenet " 11120 SMPD1 "Niemann Pick Disease" MONDO_0001982 "Disgenet " 11122 SMPX "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 11122 SMPX Hypoacusis MONDO_0005365 "Disgenet " 11122 SMPX DFN6 MONDO_0010238 "Disgenet " 11123 SMS "syndromic X-linked intellectual disability Snyder type" MONDO:0010664 "ClinGen " 11123 SMS SRS MONDO_0010664 "Disgenet " 11123 SMS "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11123 SMS "SMITH-MAGENIS SYNDROME" MONDO_0008434 "Disgenet " 11128 SNAI1 "congenital heart disease" MONDO:0005453 "ClinGen " 11128 SNAI1 "Papillary Thyroid Carcinoma" MONDO_0005075 "Disgenet " 11128 SNAI1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11128 SNAI1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 11128 SNAI1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 11132 SNAP25 "genetic developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 11132 SNAP25 Tic "Disgenet " 11132 SNAP25 "CONGEN MYASTHENIA GRAVIS" MONDO_0018940 "Disgenet " 11132 SNAP25 "Depressive neurosis" MONDO_0002050 "Disgenet " 11132 SNAP25 "Down Syndrome" MONDO_0008608 "Disgenet " 11132 SNAP25 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11132 SNAP25 Epilepsies MONDO_0005027 "Disgenet " 11132 SNAP25 "Bipolar Disorders" MONDO_0004985 "Disgenet " 11132 SNAP25 Depression MONDO_0002050 "Disgenet " 11132 SNAP25 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 11132 SNAP25 CMS18 MONDO_0014590 "Disgenet " 11133 SNAP29 Schizophrenias MONDO_0005090 "Disgenet " 11133 SNAP29 "CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME" MONDO_0012290 "Disgenet " 11138 SNCA PARK1 MONDO_0008200 "Disgenet " 11138 SNCA "Lewy Body Disease" MONDO_0007488 "Disgenet " 11138 SNCA "Degenerative disease of nervous system, unspecified" MONDO_0005559 "Disgenet " 11138 SNCA Synucleinopathy MONDO_0000510 "Disgenet " 11138 SNCA "Parkinson Disease" MONDO_0014796 "Disgenet " 11138 SNCA "Alzheimer Disease" MONDO_0012630 "Disgenet " 11138 SNCA Parkinsonism MONDO_0021095 "Disgenet " 11138 SNCA "Dementia, Vascular" MONDO_0004648 "Disgenet " 11138 SNCA "Symptomatic Parkinsonism" MONDO_0006966 "Disgenet " 11138 SNCA "Abuse, Alcohol" MONDO_0002046 "Disgenet " 11138 SNCA PARK15 MONDO_0009830 "Disgenet " 11138 SNCA "manganese poisoning" MONDO_0017638 "Disgenet " 11138 SNCA "Parkinson disease" MONDO:0005180 "ClinGen " 11138 SNCA "degenerative disorders" MONDO_0005559 "Disgenet " 11138 SNCA Alcoholism MONDO_0002046 "Disgenet " 11138 SNCA "Early onset Parkinson's disease" MONDO_0017279 "Disgenet " 11138 SNCA PARK4 MONDO_0011562 "Disgenet " 11138 SNCA "Gaucher Disease" MONDO_0018150 "Disgenet " 11139 SNCAIP "Parkinson Disease" MONDO_0014796 "Disgenet " 11140 SNCB "Lewy Body Disease" MONDO_0007488 "Disgenet " 11140 SNCB "Parkinson Disease" MONDO_0014796 "Disgenet " 11141 SNCG "Breast Neoplasms" MONDO_0021100 "Disgenet " 11141 SNCG Carcinoma MONDO_0004993 "Disgenet " 11141 SNCG "Lewy Body Disease" MONDO_0007488 "Disgenet " 11142 SIK1 "Early infantile epileptic encephalopathy with burst-suppression" MONDO_0100062 "Disgenet " 11142 SIK1 "Glioblastoma multiforme" MONDO_0018177 "Disgenet " 11142 SIK1 "Infantile spasms" MONDO_0018097 "Disgenet " 11142 SIK1 EIEE30 MONDO_0014595 "Disgenet " 11142 SIK1 "Global developmental delay" "Disgenet " 11142 SIK1 "developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 11150 SNRNP70 Alcoholism MONDO_0002046 "Disgenet " 11150 SNRNP70 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 11153 SNRPB "Cerebrocostomandibular syndrome" MONDO_0007301 "Disgenet " 11158 SNRPD1 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 1116 BSG "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 1116 BSG "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 1116 BSG "Renal cell carcinoma" MONDO_0005549 "Disgenet " 1116 BSG "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 1116 BSG Melanoma MONDO_0005105 "Disgenet " 1116 BSG "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11161 SNRPE "Hypotrichosis simplex" MONDO_0018914 "Disgenet " 11161 SNRPE HYPT11 MONDO_0014027 "Disgenet " 11161 SNRPE "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11164 SNRPN "Angelman Syndrome" MONDO_0007113 "Disgenet " 11164 SNRPN "Prader Willi Syndrome" MONDO_0008300 "Disgenet " 11164 SNRPN "Childhood autism" MONDO_0005260 "Disgenet " 11167 SNTA1 "long QT syndrome" MONDO:0002442 "ClinGen " 11167 SNTA1 "Long QT Syndrome" MONDO_0002442 "Disgenet " 11167 SNTA1 LQT12 MONDO_0013062 "Disgenet " 11178 SOAT2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11179 SOD1 Gliomas MONDO_0021042 "Disgenet " 11179 SOD1 "Congestive heart failure" MONDO_0005252 "Disgenet " 11179 SOD1 "Acute kidney injury" MONDO_0002492 "Disgenet " 11179 SOD1 Hyperthyroidism MONDO_0004425 "Disgenet " 11179 SOD1 "Prion Diseases" MONDO_0018926 "Disgenet " 11179 SOD1 "Cord Injuries, Spinal" MONDO_0043797 "Disgenet " 11179 SOD1 "Deficiency Disease" MONDO_0006873 "Disgenet " 11179 SOD1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 11179 SOD1 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 11179 SOD1 "amyotrophic lateral sclerosis type 1" MONDO:0007103 "ClinGen " 11179 SOD1 "AMYOTROPHIC LATERAL SCLEROSIS 1" MONDO_0005144 "Disgenet " 11179 SOD1 "Motor Neuron Disease" MONDO_0008780 "Disgenet " 11179 SOD1 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 11179 SOD1 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 11179 SOD1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 11179 SOD1 "High blood pressure" MONDO_0005044 "Disgenet " 11179 SOD1 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 11179 SOD1 "Down Syndrome" MONDO_0008608 "Disgenet " 11179 SOD1 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 11179 SOD1 "Parkinson Disease" MONDO_0014796 "Disgenet " 11179 SOD1 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 11179 SOD1 Depression MONDO_0002050 "Disgenet " 11179 SOD1 "Depressive neurosis" MONDO_0002050 "Disgenet " 11179 SOD1 Obesity MONDO_0019182 "Disgenet " 11179 SOD1 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 11179 SOD1 Meningomyelocele MONDO_0017069 "Disgenet " 11179 SOD1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 11179 SOD1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 11179 SOD1 Asthma MONDO_0004979 "Disgenet " 11179 SOD1 Atherosclerosis MONDO_0005311 "Disgenet " 11179 SOD1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11179 SOD1 Hyperglycemia MONDO_0002909 "Disgenet " 11179 SOD1 "Cerebrovascular accident" MONDO_0005098 "Disgenet " 11179 SOD1 "Diseases, Nervous System" MONDO_0005071 "Disgenet " 11179 SOD1 "Diseases, Liver" MONDO_0005154 "Disgenet " 11179 SOD1 "Heart failure" MONDO_0005252 "Disgenet " 11179 SOD1 "Fatty Liver" MONDO_0004790 "Disgenet " 11179 SOD1 "Attacks, Transient Ischemic" MONDO_0005264 "Disgenet " 1118 BST1 "Parkinson Disease" MONDO_0014796 "Disgenet " 11180 SOD2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11180 SOD2 Adenocarcinoma MONDO_0004970 "Disgenet " 11180 SOD2 "Parkinson Disease" MONDO_0014796 "Disgenet " 11180 SOD2 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 11180 SOD2 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 11180 SOD2 "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 11180 SOD2 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 11180 SOD2 "Infertility, Male" MONDO_0005372 "Disgenet " 11180 SOD2 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 11180 SOD2 "Degenerative disease of nervous system, unspecified" MONDO_0005559 "Disgenet " 11180 SOD2 Atherosclerosis MONDO_0005311 "Disgenet " 11180 SOD2 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 11180 SOD2 "Diseases, Lung" MONDO_0005275 "Disgenet " 11180 SOD2 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 11180 SOD2 "EMD - Exudative macular degeneration" MONDO_0005417 "Disgenet " 11180 SOD2 "Respiratory Distress Syndrome, Adult" MONDO_0100130 "Disgenet " 11180 SOD2 Psoriases MONDO_0005083 "Disgenet " 11180 SOD2 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 11180 SOD2 "Primary open-angle glaucoma" MONDO_0100553 "Disgenet " 11180 SOD2 "Fatty Liver" MONDO_0004790 "Disgenet " 11180 SOD2 "Neoplasm, Skin" MONDO_0002531 "Disgenet " 11180 SOD2 "Mesothelioma, malignant" MONDO_0006292 "Disgenet " 11180 SOD2 Hyperthyroidism MONDO_0004425 "Disgenet " 11180 SOD2 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 11180 SOD2 Nephropathy MONDO_0005240 "Disgenet " 11180 SOD2 Mesothelioma MONDO_0005065 "Disgenet " 11180 SOD2 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 11180 SOD2 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 11180 SOD2 "Leber's optic atrophy" MONDO_0010788 "Disgenet " 11180 SOD2 Anemia MONDO_0002280 "Disgenet " 11180 SOD2 "Multiple Myeloma" MONDO_0009693 "Disgenet " 11180 SOD2 "Alcoholic Liver Cirrhosis" MONDO_0006644 "Disgenet " 11180 SOD2 "Mouth Neoplasm" MONDO_0021245 "Disgenet " 11180 SOD2 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 11180 SOD2 "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 11180 SOD2 "Heart failure" MONDO_0005252 "Disgenet " 11180 SOD2 "Congestive heart failure" MONDO_0005252 "Disgenet " 11180 SOD2 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 11180 SOD2 Schizophrenias MONDO_0005090 "Disgenet " 11180 SOD2 "Brain Injuries" MONDO_0043510 "Disgenet " 11180 SOD2 "Disease, Primary Myocardial" MONDO_0004994 "Disgenet " 11180 SOD2 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 11180 SOD2 Osteoporoses MONDO_0005298 "Disgenet " 11180 SOD2 "Diabetes, Gestational" MONDO_0005406 "Disgenet " 11180 SOD2 Asthma MONDO_0004979 "Disgenet " 11180 SOD2 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 11180 SOD2 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 11180 SOD2 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 11180 SOD2 Depression MONDO_0002050 "Disgenet " 11180 SOD2 Obesity MONDO_0019182 "Disgenet " 11180 SOD2 "Depressive neurosis" MONDO_0002050 "Disgenet " 11180 SOD2 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 11180 SOD2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11180 SOD2 "High blood pressure" MONDO_0005044 "Disgenet " 11180 SOD2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 11180 SOD2 Cardiomyopathy MONDO_0004994 "Disgenet " 11180 SOD2 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 11180 SOD2 "Cancer, Breast" MONDO_0007254 "Disgenet " 11180 SOD2 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 11180 SOD2 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 11180 SOD2 "Alzheimer Disease" MONDO_0012630 "Disgenet " 11180 SOD2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11180 SOD2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 11180 SOD2 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 11180 SOD2 "Diseases, Vascular" MONDO_0005385 "Disgenet " 11180 SOD2 "Lewy Body Disease" MONDO_0007488 "Disgenet " 11180 SOD2 "Brain Neoplasms" MONDO_0021211 "Disgenet " 11180 SOD2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 11180 SOD2 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 11180 SOD2 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 11180 SOD2 Carcinoma MONDO_0004993 "Disgenet " 11180 SOD2 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 11180 SOD2 "MELAS Syndrome" MONDO_0010789 "Disgenet " 11180 SOD2 "Progressive external ophthalmoplegia" MONDO_0019016 "Disgenet " 11180 SOD2 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 11180 SOD2 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 11180 SOD2 Vitiligo MONDO_0008661 "Disgenet " 11180 SOD2 "Kidney Neoplasm" MONDO_0002367 "Disgenet " 11180 SOD2 Hypoglycemia MONDO_0004946 "Disgenet " 11180 SOD2 "Alcoholic Intoxication" "Disgenet " 11180 SOD2 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 11181 SOD3 "Heart failure" MONDO_0005252 "Disgenet " 11181 SOD3 "Cardiac Disease" MONDO_0005267 "Disgenet " 11181 SOD3 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 11181 SOD3 "Congestive heart failure" MONDO_0005252 "Disgenet " 11181 SOD3 Polyneuropathy MONDO_0001824 "Disgenet " 11181 SOD3 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 11181 SOD3 "High blood pressure" MONDO_0005044 "Disgenet " 11181 SOD3 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 11181 SOD3 COPD MONDO_0005002 "Disgenet " 11181 SOD3 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 11181 SOD3 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 11181 SOD3 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 11181 SOD3 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 11181 SOD3 Pneumonia MONDO_0005249 "Disgenet " 11182 CAPN15 Coloboma MONDO_0007350 "Disgenet " 11182 CAPN15 "OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME" MONDO_0036189 "Disgenet " 11183 SON "Global developmental delay" "Disgenet " 11183 SON "ZTTK syndrome" MONDO:0014936 "ClinGen " 11183 SON "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11183 SON ZTTKS MONDO_0014936 "Disgenet " 11184 SORD "Charcot Marie Disease" MONDO_0011687 "Disgenet " 11184 SORD "Peripheral neuropathy" MONDO_0005244 "Disgenet " 11184 SORD SORDD MONDO_0030055 "Disgenet " 11184 SORD "Charcot-Marie-Tooth disease" MONDO:0015626 "ClinGen " 11185 SORL1 "familial alzheimer's disease" MONDO_0015140 "Disgenet " 11185 SORL1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 11185 SORL1 "Cognitive Dysfunction" "Disgenet " 11186 SORT1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 11186 SORT1 "Cardiovascular Disease" MONDO_0004995 "Disgenet " 11186 SORT1 "Aortic Aneurysm, Abdominal" MONDO_0005350 "Disgenet " 11186 SORT1 "Coronary Disease" MONDO_0005010 "Disgenet " 11187 SOS1 "COSTELLO SYNDROME" MONDO_0009026 "Disgenet " 11187 SOS1 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 11187 SOS1 "Pulmonary Stenosis" MONDO_0006936 "Disgenet " 11187 SOS1 "Noonan syndrome" MONDO:0018997 "ClinGen " 11187 SOS1 "Costello syndrome" MONDO:0009026 "ClinGen " 11187 SOS1 "cardiofaciocutaneous syndrome" MONDO:0015280 "ClinGen " 11187 SOS1 "Pulmonary Valve Stenosis" MONDO_0006936 "Disgenet " 11187 SOS1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11187 SOS1 NS4 MONDO_0012547 "Disgenet " 11187 SOS1 "Cardiofaciocutaneous Syndrome" MONDO_0007265 "Disgenet " 11187 SOS1 "Atrial septal defect" MONDO_0006664 "Disgenet " 11187 SOS1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 11187 SOS1 RASopathy MONDO_0021060 "Disgenet " 11187 SOS1 HGF MONDO_0016070 "Disgenet " 11187 SOS1 "Noonan Syndrome" MONDO_0018997 "Disgenet " 11188 SOS2 "Noonan syndrome" MONDO:0018997 "ClinGen " 11188 SOS2 "Noonan Syndrome" MONDO_0018997 "Disgenet " 11188 SOS2 RASopathy MONDO_0021060 "Disgenet " 11188 SOS2 "NOONAN SYNDROME 9" MONDO_0014691 "Disgenet " 11190 SOX10 PCWH MONDO_0012198 "Disgenet " 11190 SOX10 "Waardenburg syndrome type 4C" MONDO:0013202 "ClinGen " 11190 SOX10 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 11190 SOX10 WS2A MONDO_0008671 "Disgenet " 11190 SOX10 Schizophrenias MONDO_0005090 "Disgenet " 11190 SOX10 "Syndrome, Kallmann's" MONDO_0013961 "Disgenet " 11190 SOX10 "Disease, Hirschsprung" MONDO_0018309 "Disgenet " 11190 SOX10 WS4A MONDO_0010192 "Disgenet " 11190 SOX10 "Waardenburg Syndrome Type II" MONDO_0019517 "Disgenet " 11190 SOX10 Hypoacusis MONDO_0005365 "Disgenet " 11190 SOX10 "Syndrome, Waardenburg's" MONDO_0018094 "Disgenet " 11190 SOX10 "WAARDENBURG SYNDROME, TYPE 4C" MONDO_0013202 "Disgenet " 11190 SOX10 WS2E MONDO_0012698 "Disgenet " 11191 SOX11 "Hypogonadotropic hypogonadism" MONDO_0014102 "Disgenet " 11191 SOX11 MRD27 MONDO_0014376 "Disgenet " 11191 SOX11 "Coffin-Siris syndrome" MONDO_0015452 "Disgenet " 11194 SOX18 "HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME" MONDO_0011914 "Disgenet " 11194 SOX18 "HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME" MONDO_0007670 "Disgenet " 11195 SOX2 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 11195 SOX2 "Septo-optic dysplasia" MONDO_0008428 "Disgenet " 11195 SOX2 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 11195 SOX2 Anophthalmias "Disgenet " 11195 SOX2 "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 11195 SOX2 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 11195 SOX2 "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 11195 SOX2 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 11195 SOX2 "Cancer, Breast" MONDO_0007254 "Disgenet " 11195 SOX2 "Cancer, Squamous Cell" MONDO_0002532 "Disgenet " 11195 SOX2 "Brain Neoplasms" MONDO_0021211 "Disgenet " 11195 SOX2 "Child Development Disorder" MONDO_0005287 "Disgenet " 11195 SOX2 "MICROPHTHALMIA, SYNDROMIC 3" MONDO_0008799 "Disgenet " 11195 SOX2 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 11195 SOX2 "Lung Neoplasm" MONDO_0002732 "Disgenet " 11195 SOX2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11199 SOX3 "Global developmental delay" "Disgenet " 11199 SOX3 "SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder" MONDO:0800474 "ClinGen " 11199 SOX3 "46, XX Testicular Disorders of Sex Development" MONDO_0100249 "Disgenet " 11199 SOX3 Squint MONDO_0003432 "Disgenet " 11199 SOX3 PHPX MONDO_0010712 "Disgenet " 11199 SOX3 "Childhood autism" MONDO_0005260 "Disgenet " 11200 SOX4 "Adenoid cystic carcinoma" MONDO_0003175 "Disgenet " 11200 SOX4 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 11200 SOX4 "Developmental delay" "Disgenet " 11200 SOX4 CSS10 MONDO_0032791 "Disgenet " 11200 SOX4 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 11200 SOX4 "Congestive heart failure" MONDO_0005252 "Disgenet " 11200 SOX4 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11200 SOX4 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 11200 SOX4 "Coffin-Siris syndrome" MONDO_0015452 "Disgenet " 11200 SOX4 "Heart failure" MONDO_0005252 "Disgenet " 11201 SOX5 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 11201 SOX5 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11201 SOX5 "LAMB-SHAFFER SYNDROME" MONDO_0014778 "Disgenet " 11201 SOX5 "Lamb-Shaffer syndrome" MONDO:0014778 "ClinGen " 11204 SOX9 "Cooks syndrome" MONDO:0007134 "ClinGen " 11204 SOX9 "campomelic dysplasia" MONDO:0007251 "ClinGen " 11204 SOX9 "isolated Pierre-Robin syndrome" MONDO:0009869 "ClinGen " 11204 SOX9 "Lung Neoplasm" MONDO_0002732 "Disgenet " 11204 SOX9 "46, XX Testicular Disorders of Sex Development" MONDO_0100249 "Disgenet " 11204 SOX9 "CARCINOMA OF LUNG" MONDO_0005138 "Disgenet " 11204 SOX9 "Abnormalities, Craniofacial" "Disgenet " 11204 SOX9 "CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL" "Disgenet " 11204 SOX9 "Pierre Robin Syndrome" MONDO_0009869 "Disgenet " 11204 SOX9 "ACAMPOMELIC CAMPOMELIC DYSPLASIA" MONDO_0007251 "Disgenet " 11204 SOX9 Carcinoma MONDO_0004993 "Disgenet " 11204 SOX9 "46,XX Ovotesticular Difference of Sex Development" MONDO_0016281 "Disgenet " 11204 SOX9 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 11204 SOX9 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 11204 SOX9 CMPD1 MONDO_0007251 "Disgenet " 11205 SP1 "Neoplasm, Skin" MONDO_0002531 "Disgenet " 11205 SP1 Schizophrenias MONDO_0005090 "Disgenet " 11205 SP1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11205 SP1 Hyperglycemia MONDO_0002909 "Disgenet " 11205 SP1 Psychosis MONDO_0005485 "Disgenet " 11209 SP4 Schizophrenias MONDO_0005090 "Disgenet " 11209 SP4 "Bipolar Disorders" MONDO_0004985 "Disgenet " 1121 BTC "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 1121 BTC "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 11212 SPAG1 "primary ciliary dyskinesia 28" MONDO:0014216 "ClinGen " 11212 SPAG1 CILD28 MONDO_0014216 "Disgenet " 11212 SPAG1 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 11219 SPARC "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 11219 SPARC "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 11219 SPARC "Multiple Myeloma" MONDO_0009693 "Disgenet " 11219 SPARC "CARCINOMA OF CERVIX" MONDO_0005131 "Disgenet " 11219 SPARC "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 11219 SPARC "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11219 SPARC "OSTEOGENESIS IMPERFECTA, TYPE XVII" MONDO_0014672 "Disgenet " 11219 SPARC "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 11219 SPARC Nephropathy MONDO_0005240 "Disgenet " 11219 SPARC carcinogenesis "Disgenet " 11219 SPARC "Osteogenesis Imperfecta" MONDO_0012591 "Disgenet " 1122 BTD "Leigh syndrome" MONDO:0009723 "ClinGen " 1122 BTD "biotinidase deficiency" MONDO:0009665 "ClinGen " 1122 BTD "Biotinidase deficiency" MONDO_0009665 "Disgenet " 11226 SPG11 "SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE" MONDO_0011445 "Disgenet " 11226 SPG11 "hereditary spastic paraplegia 11" MONDO:0011445 "ClinGen " 11226 SPG11 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 11226 SPG11 "Nakamura Osame syndrome" MONDO_0011445 "Disgenet " 11226 SPG11 "Paraplegias, Spastic" MONDO_0003757 "Disgenet " 11226 SPG11 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 11226 SPG11 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X" MONDO_0014726 "Disgenet " 11226 SPG11 "Juvenile amyotrophic lateral sclerosis" MONDO_0017593 "Disgenet " 1123 KLF9 Endometrioses MONDO_0005133 "Disgenet " 11231 ATL1 "Paraplegias, Spastic" MONDO_0003757 "Disgenet " 11231 ATL1 FSP1 MONDO_0008437 "Disgenet " 11231 ATL1 "NEUROPATHY, HEREDITARY SENSORY, TYPE ID" MONDO_0013381 "Disgenet " 11231 ATL1 "Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant" MONDO_0019064 "Disgenet " 11231 ATL1 "neuropathy, hereditary sensory, type 1D" MONDO:0013381 "ClinGen " 11231 ATL1 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 11237 SPG7 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 11237 SPG7 "Spastic Paraplegia 7" MONDO_0011803 "Disgenet " 11237 SPG7 "SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE" MONDO_0011803 "Disgenet " 11237 SPG7 "Paraplegias, Spastic" MONDO_0003757 "Disgenet " 11237 SPG7 "Spastic ataxia" MONDO_0017845 "Disgenet " 11237 SPG7 "Lateral Scleroses" MONDO_0018155 "Disgenet " 11240 SPHK1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 11240 SPHK1 "Ulcerative colitis" MONDO_0005101 "Disgenet " 11240 SPHK1 Leukemias MONDO_0005059 "Disgenet " 11241 SPI1 "AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT" MONDO_0030529 "Disgenet " 11241 SPI1 "agammaglobulinemia 10, autosomal dominant" MONDO:0030529 "ClinGen " 11241 SPI1 "Myeloid Leukemias" MONDO_0004643 "Disgenet " 11241 SPI1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 11244 SPINK1 "TROPICAL CALCIFIC PANCREATITIS" MONDO_0011986 "Disgenet " 11244 SPINK1 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 11244 SPINK1 "Chronic pancreatitis" MONDO_0005003 "Disgenet " 11244 SPINK1 "Hereditary pancreatitis" MONDO_0008185 "Disgenet " 11244 SPINK1 Pancreatitis MONDO_0004982 "Disgenet " 11244 SPINK1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11244 SPINK1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 11247 SPINT2 DIAR3 MONDO_0010036 "Disgenet " 11247 SPINT2 "Syndromic congenital sodium diarrhea" MONDO_0034204 "Disgenet " 11247 SPINT2 "Defective Na+/H+ exchange in jejunum and ileum" MONDO_0015170 "Disgenet " 11253 SPON2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11254 SPOP "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 11254 SPOP "NABAIS SA-DE VRIES SYNDROME, TYPE 2" MONDO_0032943 "Disgenet " 11254 SPOP "NABAIS SA-DE VRIES SYNDROME, TYPE 1" MONDO_0032942 "Disgenet " 11254 SPOP "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 11254 SPOP "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11254 SPOP "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11254 SPOP "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11254 SPOP "adenocarcinoma of prostate gland" MONDO_0005082 "Disgenet " 11255 SPP1 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 11255 SPP1 "Biliary Atresia" MONDO_0008867 "Disgenet " 11255 SPP1 "Artery Stenoses, Carotid" MONDO_0001612 "Disgenet " 11255 SPP1 "Cardiac Disease" MONDO_0005267 "Disgenet " 11255 SPP1 Nephropathy MONDO_0005240 "Disgenet " 11255 SPP1 Adenocarcinoma MONDO_0004970 "Disgenet " 11255 SPP1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 11255 SPP1 "Multiple Myeloma" MONDO_0009693 "Disgenet " 11255 SPP1 Mesothelioma MONDO_0005065 "Disgenet " 11255 SPP1 "Brain Neoplasms" MONDO_0021211 "Disgenet " 11255 SPP1 "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 11255 SPP1 Pneumonia MONDO_0005249 "Disgenet " 11255 SPP1 "Diabetic cardiomyopathy" "Disgenet " 11255 SPP1 "Liver Disease, Alcoholic" MONDO_0043693 "Disgenet " 11255 SPP1 "Glioma, malignant" MONDO_0100342 "Disgenet " 11255 SPP1 Asbestoses MONDO_0016466 "Disgenet " 11255 SPP1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 11255 SPP1 "Acute kidney injury" MONDO_0002492 "Disgenet " 11255 SPP1 Gliomas MONDO_0021042 "Disgenet " 11255 SPP1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 11255 SPP1 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 11255 SPP1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 11255 SPP1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11255 SPP1 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 11255 SPP1 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 11255 SPP1 Melanoma MONDO_0005105 "Disgenet " 11255 SPP1 "CARCINOMA OF PROSTATE" MONDO_0005159 "Disgenet " 11255 SPP1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 11255 SPP1 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 11255 SPP1 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 11257 SPR "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11257 SPR DRD MONDO_0007495 "Disgenet " 11257 SPR "dopa-responsive dystonia due to sepiapterin reductase deficiency" MONDO:0012994 "ClinGen " 11257 SPR "DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY" MONDO_0012994 "Disgenet " 11257 SPR Dystonia MONDO_0003441 "Disgenet " 11270 SPRY2 "Bergers Disease" MONDO_0005342 "Disgenet " 11270 SPRY2 "Lung Neoplasm" MONDO_0002732 "Disgenet " 11272 SPTA1 "SPHEROCYTOSIS, TYPE 3" MONDO_0010053 "Disgenet " 11272 SPTA1 Anemia MONDO_0002280 "Disgenet " 11272 SPTA1 "Anemia, Hemolytic" MONDO_0003664 "Disgenet " 11272 SPTA1 "Elliptocytoses, Hereditary" MONDO_0008165 "Disgenet " 11272 SPTA1 HPP MONDO_0009948 "Disgenet " 11272 SPTA1 "Hereditary spherocytosis" MONDO_0019350 "Disgenet " 11273 SPTAN1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11273 SPTAN1 "Early infantile epileptic encephalopathy with burst-suppression" MONDO_0100062 "Disgenet " 11273 SPTAN1 "epileptic encephalopathy" "Disgenet " 11273 SPTAN1 EIEE5 MONDO_0013277 "Disgenet " 11273 SPTAN1 "Infantile spasms" MONDO_0018097 "Disgenet " 11273 SPTAN1 "developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 11273 SPTAN1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 11274 SPTB HPP MONDO_0009948 "Disgenet " 11274 SPTB "Anemia, Congenital Hemolytic" MONDO_0003689 "Disgenet " 11274 SPTB "Anemia, Hemolytic" MONDO_0003664 "Disgenet " 11274 SPTB "Elliptocytoses, Hereditary" MONDO_0008165 "Disgenet " 11274 SPTB "SPHEROCYTOSIS, HEREDITARY, 2" MONDO_0000913 "Disgenet " 11274 SPTB "Hereditary spherocytosis" MONDO_0019350 "Disgenet " 11275 SPTBN1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 11275 SPTBN1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11275 SPTBN1 "Pervasive developmental disorder, unspecified" MONDO_0000594 "Disgenet " 11275 SPTBN1 "developmental delay, impaired speech, and behavioral abnormalities" MONDO:0859178 "ClinGen " 11275 SPTBN1 DDISBA MONDO_0859178 "Disgenet " 11276 SPTBN2 "Autosomal dominant cerebellar ataxia" MONDO_0020380 "Disgenet " 11276 SPTBN2 CRC MONDO_0005335 "Disgenet " 11276 SPTBN2 "SPINOCEREBELLAR ATAXIA 5" MONDO_0010848 "Disgenet " 11276 SPTBN2 "Ataxia, Spinocerebellar" MONDO_0000437 "Disgenet " 11276 SPTBN2 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 11276 SPTBN2 SPARCA1 MONDO_0014159 "Disgenet " 11278 SPTLC2 "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC" MONDO_0013337 "Disgenet " 11278 SPTLC2 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 11278 SPTLC2 "Hereditary Sensory Autonomic Neuropathy, Type 1" MONDO_0018213 "Disgenet " 11278 SPTLC2 "amyotrophic lateral sclerosis" MONDO:0004976 "ClinGen " 11278 SPTLC2 "neuropathy, hereditary sensory and autonomic, type 1C" MONDO:0013337 "ClinGen " 11280 SQSTM1 "frontotemporal dementia and/or amyotrophic lateral sclerosis 3" MONDO:0014640 "ClinGen " 11280 SQSTM1 "NONAKA MYOPATHY" MONDO_0011603 "Disgenet " 11280 SQSTM1 "FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3" MONDO_0014640 "Disgenet " 11280 SQSTM1 PDB3 MONDO_0005382 "Disgenet " 11280 SQSTM1 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 11280 SQSTM1 "PAGET'S BONE DISEASE" MONDO_0005382 "Disgenet " 11283 SRC "Breast Neoplasms" MONDO_0021100 "Disgenet " 11283 SRC "thrombocytopenia 6" MONDO:0014837 "ClinGen " 11283 SRC "Colonic adenocarcinoma" MONDO_0005401 "Disgenet " 11283 SRC "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 11283 SRC "Myelosclerosis with myeloid metaplasia" MONDO_0800305 "Disgenet " 11283 SRC Osteoporoses MONDO_0005298 "Disgenet " 11283 SRC "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11283 SRC "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 11283 SRC "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11283 SRC "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 11283 SRC "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 11283 SRC "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 11283 SRC "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 11283 SRC Thrombocytopenia MONDO_0002049 "Disgenet " 11283 SRC "THROMBOCYTOPENIA 6" MONDO_0014837 "Disgenet " 11284 SRD5A1 Alcoholism MONDO_0002046 "Disgenet " 11284 SRD5A1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11284 SRD5A1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 11284 SRD5A1 "Ovary Syndrome, Polycystic" MONDO_0008487 "Disgenet " 11285 SRD5A2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11285 SRD5A2 PPSH MONDO_0009923 "Disgenet " 11285 SRD5A2 Hypospadia MONDO_0005345 "Disgenet " 11285 SRD5A2 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 11285 SRD5A2 Alopecias MONDO_0004907 "Disgenet " 11285 SRD5A2 "Short penis" "Disgenet " 11289 SREBF1 "MUCOEPITHELIAL DYSPLASIA, HEREDITARY" MONDO_0008017 "Disgenet " 11289 SREBF1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 11289 SREBF1 "Coronary Disease" MONDO_0005010 "Disgenet " 11289 SREBF1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 11289 SREBF1 "Fatty Liver, Alcoholic" MONDO_0021104 "Disgenet " 11289 SREBF1 "Fatty Liver" MONDO_0004790 "Disgenet " 11289 SREBF1 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 11289 SREBF1 "Disease, Metabolic" MONDO_0005066 "Disgenet " 11289 SREBF1 Obesity MONDO_0019182 "Disgenet " 11289 SREBF1 Schizophrenias MONDO_0005090 "Disgenet " 11289 SREBF1 "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 11289 SREBF1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11290 SREBF2 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 11290 SREBF2 Schizophrenias MONDO_0005090 "Disgenet " 11290 SREBF2 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 11290 SREBF2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 11290 SREBF2 Hypercholesteremias "Disgenet " 11290 SREBF2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11290 SREBF2 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 11290 SREBF2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11290 SREBF2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 11290 SREBF2 "Cancer, Breast" MONDO_0007254 "Disgenet " 11291 SRF "Fetal Alcohol Syndrome" MONDO_0016011 "Disgenet " 11291 SRF "Fetal Alcohol Spectrum Disorder" MONDO_0000408 "Disgenet " 11291 SRF "congenital heart disease" MONDO:0005453 "ClinGen " 11291 SRF Cardiomyopathy MONDO_0004994 "Disgenet " 11301 SRP54 "NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT, WITH OR WITHOUT PANCREATIC DYSFUNCTION AND/OR NEUROLOGIC ABNORMALITIES" MONDO_0032899 "Disgenet " 11301 SRP54 SDS MONDO_0009833 "Disgenet " 1131 BTG2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11317 SSBP1 "Atrophy, Optic" MONDO_0003608 "Disgenet " 11317 SSBP1 "optic atrophy 13 with retinal and foveal abnormalities" MONDO:0008135 "ClinGen " 11317 SSBP1 "Leigh syndrome" MONDO:0009723 "ClinGen " 1132 BTG3 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 11329 SST "Bipolar Disorders" MONDO_0004985 "Disgenet " 11329 SST Endometrioses MONDO_0005133 "Disgenet " 11329 SST "Disorder, Schizoaffective" MONDO_0005487 "Disgenet " 11329 SST "Esophageal varices with bleeding" MONDO_0001221 "Disgenet " 11329 SST "Affective Disorders" MONDO_0005371 "Disgenet " 11329 SST "Diarrheogenic Tumors" MONDO_0019960 "Disgenet " 11329 SST "Depressions, Unipolar" MONDO_0002050 "Disgenet " 11329 SST "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 11329 SST Pancreatitis MONDO_0004982 "Disgenet " 11329 SST Schizophrenias MONDO_0005090 "Disgenet " 11329 SST "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 1133 BTK Microglioma MONDO_0002571 "Disgenet " 1133 BTK "Breast Neoplasms" MONDO_0021100 "Disgenet " 1133 BTK "Bruton-type agammaglobulinemia" MONDO:0010421 "ClinGen " 1133 BTK "isolated growth hormone deficiency type III" MONDO:0010615 "ClinGen " 1133 BTK "Common Variable Immunodeficiency" MONDO_0015517 "Disgenet " 1133 BTK Agammaglobulinemia MONDO_0015977 "Disgenet " 1133 BTK "Centrocytic Small-Cell Lymphoma" MONDO_0018876 "Disgenet " 1133 BTK "Bruton's agammaglobulinaemia" MONDO_0021094 "Disgenet " 1133 BTK "B Cell Lymphoma" MONDO_0015759 "Disgenet " 1133 BTK "Dwarfism, Pituitary" MONDO_0013946 "Disgenet " 1133 BTK "Burkitt Lymphoma" MONDO_0007243 "Disgenet " 1133 BTK IGHD3 MONDO_0018967 "Disgenet " 1133 BTK "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 1133 BTK "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 1133 BTK Hypogammaglobulinemias MONDO_0015977 "Disgenet " 11330 SSTR1 "Neuroendocrine Tumors" MONDO_0019496 "Disgenet " 11330 SSTR1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 11331 SSTR2 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 11331 SSTR2 Paraganglioma MONDO_0000448 "Disgenet " 11331 SSTR2 "Neuroendocrine Tumors" MONDO_0019496 "Disgenet " 11334 SSTR5 "Bipolar Disorders" MONDO_0004985 "Disgenet " 11340 SS18 Synoviomas MONDO_0010434 "Disgenet " 11344 ST14 "Autosomal recessive ichthyosis with hypotrichosis" MONDO_0011218 "Disgenet " 11344 ST14 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11345 RECK "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 11345 RECK "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 11346 IL24 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 11346 IL24 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 11346 IL24 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 11346 IL24 "Breast Neoplasms" MONDO_0021100 "Disgenet " 11346 IL24 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11346 IL24 "Lung Neoplasm" MONDO_0002732 "Disgenet " 11354 STAG1 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 11354 STAG1 MRD47 MONDO_0030912 "Disgenet " 11354 STAG1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 11355 STAG2 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 11355 STAG2 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 11355 STAG2 NEDXCF MONDO_0026722 "Disgenet " 11355 STAG2 Holoprosencephalies MONDO_0016296 "Disgenet " 11355 STAG2 "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 11356 STAG3 "Testicular azoospermia" "Disgenet " 11356 STAG3 "Menopause, Premature" MONDO_0001119 "Disgenet " 11356 STAG3 "Primary ovarian failure" MONDO_0005387 "Disgenet " 11356 STAG3 "PREMATURE OVARIAN FAILURE 8" MONDO_0014321 "Disgenet " 11356 STAG3 SPGF61 MONDO_0030507 "Disgenet " 11359 STAR "Ovary Syndrome, Polycystic" MONDO_0008487 "Disgenet " 11359 STAR "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 11359 STAR "TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS" MONDO_0010408 "Disgenet " 11359 STAR "LIPOID CONGENITAL ADRENAL HYPERPLASIA" MONDO_0008725 "Disgenet " 11359 STAR "Adrenal Hyperplasia, Congenital" MONDO_0018479 "Disgenet " 11362 STAT1 "Cancer, Breast" MONDO_0007254 "Disgenet " 11362 STAT1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 11362 STAT1 "IMMUNODEFICIENCY 31B" MONDO_0013427 "Disgenet " 11362 STAT1 "Combined immunodeficiencies" MONDO_0015131 "Disgenet " 11362 STAT1 "immunodeficiency 31B" MONDO:0013427 "ClinGen " 11362 STAT1 "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency" MONDO:0013956 "ClinGen " 11362 STAT1 "autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome" MONDO:0013599 "ClinGen " 11362 STAT1 "Candidiases, Chronic Mucocutaneous" MONDO_0015279 "Disgenet " 11362 STAT1 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 11362 STAT1 "Mycobacterium Infections" MONDO_0020590 "Disgenet " 11362 STAT1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11362 STAT1 "Signal transducer and activator of transcription 1 deficiency" MONDO_0013427 "Disgenet " 11362 STAT1 CANDF7 MONDO_0013599 "Disgenet " 11362 STAT1 "IMMUNODEFICIENCY 31A" MONDO_0013956 "Disgenet " 11362 STAT1 Hypothyroidism MONDO_0005420 "Disgenet " 11362 STAT1 "Glomerulonephritides, Lupus" MONDO_0005556 "Disgenet " 11362 STAT1 Bronchiectases MONDO_0004822 "Disgenet " 11363 STAT2 "zika virus (diagnosis)" MONDO_0018661 "Disgenet " 11364 STAT3 "AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1" MONDO_0014414 "Disgenet " 11364 STAT3 Cardiomyopathy MONDO_0004994 "Disgenet " 11364 STAT3 "Colonic adenocarcinoma" MONDO_0005401 "Disgenet " 11364 STAT3 "Arthritic Psoriasis" MONDO_0011849 "Disgenet " 11364 STAT3 "Fibrosing alveolitis" MONDO_0800029 "Disgenet " 11364 STAT3 "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 11364 STAT3 BIA-ALCL MONDO_0850112 "Disgenet " 11364 STAT3 "Leukemia, T Cell" MONDO_0004963 "Disgenet " 11364 STAT3 "Lymphatic Metastases" "Disgenet " 11364 STAT3 "Adenoid cystic carcinoma" MONDO_0003175 "Disgenet " 11364 STAT3 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 11364 STAT3 "Alzheimer Disease" MONDO_0012630 "Disgenet " 11364 STAT3 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 11364 STAT3 Atherosclerosis MONDO_0005311 "Disgenet " 11364 STAT3 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 11364 STAT3 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 11364 STAT3 Medulloblastoma MONDO_0007959 "Disgenet " 11364 STAT3 Adenocarcinoma MONDO_0004970 "Disgenet " 11364 STAT3 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 11364 STAT3 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 11364 STAT3 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 11364 STAT3 "Indolent Large Granular NK-Cell Lymphoproliferative Disorder" MONDO_0004234 "Disgenet " 11364 STAT3 "Heart failure" MONDO_0005252 "Disgenet " 11364 STAT3 Epithelioma MONDO_0004993 "Disgenet " 11364 STAT3 "Depressive neurosis" MONDO_0002050 "Disgenet " 11364 STAT3 "Cancer, Squamous Cell" MONDO_0002532 "Disgenet " 11364 STAT3 "Congestive heart failure" MONDO_0005252 "Disgenet " 11364 STAT3 "Chronic hepatitis, unspecified" MONDO_0002251 "Disgenet " 11364 STAT3 "human T cell leukemia" MONDO_0019471 "Disgenet " 11364 STAT3 "Behcet Syndrome" MONDO_0007191 "Disgenet " 11364 STAT3 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 11364 STAT3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11364 STAT3 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 11364 STAT3 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 11364 STAT3 "Hyper IgE Syndrome" MONDO_0018037 "Disgenet " 11364 STAT3 "Ulcerative colitis" MONDO_0005101 "Disgenet " 11364 STAT3 "Breast Neoplasms" MONDO_0021100 "Disgenet " 11364 STAT3 "Lung Neoplasm" MONDO_0002732 "Disgenet " 11364 STAT3 "CARCINOMA OF ESOPHAGUS" MONDO_0007576 "Disgenet " 11364 STAT3 "Ki 1 Lymphoma" MONDO_0020325 "Disgenet " 11364 STAT3 "HIESs, Autosomal Recessive" MONDO_0009478 "Disgenet " 11364 STAT3 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 11364 STAT3 "Liver Neoplasm" MONDO_0002691 "Disgenet " 11364 STAT3 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 11364 STAT3 "Lymphoma, T Cell" MONDO_0015760 "Disgenet " 11364 STAT3 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 11364 STAT3 "T-gamma lymphoproliferative disease" MONDO_0019469 "Disgenet " 11364 STAT3 Carcinoma MONDO_0004993 "Disgenet " 11364 STAT3 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 11364 STAT3 "STAT3-related early-onset multisystem autoimmune disease" MONDO:0014414 "ClinGen " 11364 STAT3 "hyper-IgE recurrent infection syndrome 1, autosomal dominant" MONDO:0007818 "ClinGen " 11364 STAT3 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 11364 STAT3 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 11364 STAT3 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 11364 STAT3 "Hyper IgE Syndrome, Autosomal Dominant" MONDO_0007818 "Disgenet " 11364 STAT3 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 11364 STAT3 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 11364 STAT3 "CARCINOMA OF PROSTATE" MONDO_0005159 "Disgenet " 11364 STAT3 "Cancer, Breast" MONDO_0007254 "Disgenet " 11364 STAT3 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 11364 STAT3 Psoriases MONDO_0005083 "Disgenet " 11365 STAT4 "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 11365 STAT4 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11365 STAT4 "Behcet Syndrome" MONDO_0007191 "Disgenet " 11365 STAT4 "primary biliary cirrhosis" MONDO_0005388 "Disgenet " 11365 STAT4 "Hepatitis B" MONDO_0005344 "Disgenet " 11365 STAT4 Psoriases MONDO_0005083 "Disgenet " 11365 STAT4 "Bergers Disease" MONDO_0005342 "Disgenet " 11365 STAT4 "Cancer, Breast" MONDO_0007254 "Disgenet " 11365 STAT4 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 11365 STAT4 "Sjogren's Syndrome" MONDO_0010030 "Disgenet " 11365 STAT4 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 11365 STAT4 Dermatomyositis MONDO_0016367 "Disgenet " 11365 STAT4 Polymyositis MONDO_0019127 "Disgenet " 11365 STAT4 "Arthritic Psoriasis" MONDO_0011849 "Disgenet " 11365 STAT4 "Autoimmune Hepatitides" MONDO_0016264 "Disgenet " 11365 STAT4 Asthma MONDO_0004979 "Disgenet " 11365 STAT4 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 11366 STAT5A "Carcinoma, Intraductal, Noninfiltrating" MONDO_0005023 "Disgenet " 11366 STAT5A Adenocarcinoma MONDO_0004970 "Disgenet " 11366 STAT5A "Lung Neoplasm" MONDO_0002732 "Disgenet " 11366 STAT5A Carcinoma MONDO_0004993 "Disgenet " 11366 STAT5A "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 11366 STAT5A "Breast Neoplasms" MONDO_0021100 "Disgenet " 11367 STAT5B "Cutaneous T Cell Lymphoma" MONDO_0015758 "Disgenet " 11367 STAT5B "T-gamma lymphoproliferative disease" MONDO_0019469 "Disgenet " 11367 STAT5B "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 11367 STAT5B "T-cell prolymphocytic leukaemia" MONDO_0019468 "Disgenet " 11367 STAT5B "Leukemia, T Cell" MONDO_0004963 "Disgenet " 11367 STAT5B "Enteropathy-Associated T-Cell Lymphoma" MONDO_0019473 "Disgenet " 11367 STAT5B "GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 1, AUTOSOMAL RECESSIVE" MONDO_0100210 "Disgenet " 11367 STAT5B GHISID2 MONDO_0100219 "Disgenet " 11368 STAT6 "Atopic Eczema" MONDO_0011292 "Disgenet " 11368 STAT6 "Head and Neck Neoplasms" MONDO_0005586 "Disgenet " 11368 STAT6 Hemangiopericytoma MONDO_0005094 "Disgenet " 11368 STAT6 "Localized Fibrous Mesothelioma" MONDO_0016238 "Disgenet " 11368 STAT6 "hyper-IgE syndrome 6, autosomal dominant, with recurrent infections" MONDO:0957807 "ClinGen " 11368 STAT6 "CARCINOMA OF PROSTATE" MONDO_0005159 "Disgenet " 11368 STAT6 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 11374 STC2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 11377 SULT1E1 Endometrium MONDO_0011962 "Disgenet " 11377 SULT1E1 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 11377 SULT1E1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11377 SULT1E1 "Cancer, Breast" MONDO_0007254 "Disgenet " 11387 STIP1 "Depressive neurosis" MONDO_0002050 "Disgenet " 11387 STIP1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11389 STK11 "Hereditary Breast and Ovarian Cancer Syndrome" MONDO_0003582 "Disgenet " 11389 STK11 "Malignant neoplasm of testis" MONDO_0005447 "Disgenet " 11389 STK11 "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 11389 STK11 "Ovarian carcinoma" "Disgenet " 11389 STK11 "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 11389 STK11 "Cancer Syndrome, Hereditary" MONDO_0015356 "Disgenet " 11389 STK11 "ovarian epithelial cancer" MONDO_0005140 "Disgenet " 11389 STK11 "Adrenal cortical carcinoma" MONDO_0006639 "Disgenet " 11389 STK11 "High blood pressure" MONDO_0005044 "Disgenet " 11389 STK11 "intestinal polyposi" MONDO_0008283 "Disgenet " 11389 STK11 "carcinoma of stomach (diagnosis)" MONDO_0004950 "Disgenet " 11389 STK11 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 11389 STK11 "OVARIAN CANCER, EPITHELIAL" MONDO_0018364 "Disgenet " 11389 STK11 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 11389 STK11 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 11389 STK11 "Cancer, Lung" MONDO_0008903 "Disgenet " 11389 STK11 Adenocarcinoma MONDO_0004970 "Disgenet " 11389 STK11 "Lung Neoplasm" MONDO_0002732 "Disgenet " 11389 STK11 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 11389 STK11 "Peutz Jegher's Syndrome" MONDO_0008280 "Disgenet " 11389 STK11 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 11389 STK11 "Cancer, Cervical" MONDO_0002974 "Disgenet " 11389 STK11 Melanoma MONDO_0005105 "Disgenet " 11389 STK11 "familial ovarian cancer" MONDO:0016248 "ClinGen " 11389 STK11 "Peutz-Jeghers syndrome" MONDO:0008280 "ClinGen " 11389 STK11 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 11389 STK11 "CARCINOMA OF CERVIX" MONDO_0005131 "Disgenet " 11389 STK11 CRC MONDO_0005335 "Disgenet " 11389 STK11 "Pancreatic carcinoma" MONDO_0005192 "Disgenet " 11389 STK11 "Cancer, Breast" MONDO_0007254 "Disgenet " 11389 STK11 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 11389 STK11 "Peutz Jeghers polyp (morphologic abnormality)" MONDO_0008280 "Disgenet " 11391 AURKC SPGF5 MONDO_0009461 "Disgenet " 11391 AURKC "Infertility, Male" MONDO_0005372 "Disgenet " 11393 AURKA "Multiple Myeloma" MONDO_0009693 "Disgenet " 11393 AURKA "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11393 AURKA "Breast Neoplasms" MONDO_0021100 "Disgenet " 11393 AURKA Melanoma MONDO_0005105 "Disgenet " 11393 AURKA "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11393 AURKA "Cancer, Ovarian" MONDO_0008170 "Disgenet " 11393 AURKA "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 11393 AURKA "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11393 AURKA Neuroblastoma MONDO_0005072 "Disgenet " 11393 AURKA "adenocarcinoma of large intestine (diagnosis)" MONDO_0005008 "Disgenet " 11399 NEK4 "Bipolar Disorders" MONDO_0004985 "Disgenet " 11408 STK4 "combined immunodeficiency due to STK4 deficiency" MONDO:0013934 "ClinGen " 11411 CDKL5 "CDKL5 disorder" MONDO:0100039 "ClinGen " 11411 CDKL5 ISSX2 MONDO_0010396 "Disgenet " 11411 CDKL5 "Stereotypic Movement Disorder" MONDO_0002265 "Disgenet " 11411 CDKL5 "Developmental delay" "Disgenet " 11411 CDKL5 "Childhood autism" MONDO_0005260 "Disgenet " 11411 CDKL5 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 11411 CDKL5 "Rett Syndrome" MONDO_0010726 "Disgenet " 11411 CDKL5 "Global developmental delay" "Disgenet " 11411 CDKL5 Epilepsies MONDO_0005027 "Disgenet " 11411 CDKL5 "epileptic encephalopathy" "Disgenet " 11411 CDKL5 "Infantile spasms" "Disgenet " 11411 CDKL5 "Infantile spasms" MONDO_0018097 "Disgenet " 11411 CDKL5 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11411 CDKL5 "RETT SYNDROME, ATYPICAL" MONDO_0017746 "Disgenet " 11411 CDKL5 "Early infantile epileptic encephalopathy with burst-suppression" MONDO_0100062 "Disgenet " 11411 CDKL5 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 11425 STS "Steryl-sulfatase deficiency" MONDO_0010622 "Disgenet " 11425 STS "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 11425 STS Obesity MONDO_0019182 "Disgenet " 11425 STS "Ichthyoses, Sex-Linked" MONDO_0017269 "Disgenet " 11427 STUB1 SCA48 MONDO_0032526 "Disgenet " 11427 STUB1 "Ataxia, Spinocerebellar" MONDO_0000437 "Disgenet " 11427 STUB1 SCAR16 MONDO_0014339 "Disgenet " 11427 STUB1 "Spinocerebellar ataxia type 48" "Disgenet " 11429 STX11 "familial hemophagocytic lymphohistiocytosis 4" MONDO:0011336 "ClinGen " 11429 STX11 FHL4 MONDO_0011336 "Disgenet " 11429 STX11 "Familial hemophagocytic lymphohistiocytosis" MONDO_0009974 "Disgenet " 11431 STX16 "PSEUDOHYPOPARATHYROIDISM, TYPE IB" MONDO_0019992 "Disgenet " 11432 STX17 Melanoma MONDO_0005105 "Disgenet " 11433 STX1A "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11433 STX1A Schizophrenias MONDO_0005090 "Disgenet " 11433 STX1A "Syndrome, Williams" MONDO_0008678 "Disgenet " 11433 STX1A "Childhood autism" MONDO_0005260 "Disgenet " 11433 STX1A "Cystic Fibrosis" MONDO_0009061 "Disgenet " 11438 STX3 "Microvillous inclusion disease" MONDO_0009635 "Disgenet " 11441 STX6 "Progressive supranuclear palsy" MONDO_0019037 "Disgenet " 11444 STXBP1 "Attacks, Salaam" MONDO_0018097 "Disgenet " 11444 STXBP1 "developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 11444 STXBP1 EIEE4 MONDO_0012812 "Disgenet " 11444 STXBP1 "Infantile spasms" MONDO_0018097 "Disgenet " 11444 STXBP1 Epilepsies MONDO_0005027 "Disgenet " 11444 STXBP1 "Infantile spasms" "Disgenet " 11444 STXBP1 "Childhood autism" MONDO_0005260 "Disgenet " 11444 STXBP1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 11444 STXBP1 "Severe mental retardation" MONDO_0010402 "Disgenet " 11444 STXBP1 Schizophrenias MONDO_0005090 "Disgenet " 11444 STXBP1 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 11444 STXBP1 "STXBP1-related encephalopathy" MONDO_0012812 "Disgenet " 11444 STXBP1 "Global developmental delay" "Disgenet " 11444 STXBP1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 11444 STXBP1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11444 STXBP1 "epileptic encephalopathy" "Disgenet " 11444 STXBP1 "Early infantile epileptic encephalopathy with burst-suppression" MONDO_0100062 "Disgenet " 11445 STXBP2 "familial hemophagocytic lymphohistiocytosis 5" MONDO:0013135 "ClinGen " 11445 STXBP2 "Familial hemophagocytic lymphohistiocytosis" MONDO_0009974 "Disgenet " 11445 STXBP2 Thrombocytopenia MONDO_0002049 "Disgenet " 11445 STXBP2 FHL5 MONDO_0013135 "Disgenet " 11448 SUCLA2 "Leigh syndrome" MONDO:0009723 "ClinGen " 11448 SUCLA2 "Succinate-Coenzyme A Ligase Deficiency" MONDO_0009504 "Disgenet " 11448 SUCLA2 "mitochondrial dna depletion" MONDO_0018158 "Disgenet " 11449 SUCLG1 "mitochondrial dna depletion" MONDO_0018158 "Disgenet " 11449 SUCLG1 "Leigh syndrome" MONDO:0009723 "ClinGen " 11449 SUCLG1 "Succinate-Coenzyme A Ligase Deficiency" MONDO_0009504 "Disgenet " 11449 SUCLG1 "MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)" MONDO_0009504 "Disgenet " 11453 SULT1A1 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 11453 SULT1A1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 11453 SULT1A1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 11453 SULT1A1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 11453 SULT1A1 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 11453 SULT1A1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 11453 SULT1A1 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 11453 SULT1A1 Endometrium MONDO_0011962 "Disgenet " 11453 SULT1A1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 11453 SULT1A1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11453 SULT1A1 "Cancer, Breast" MONDO_0007254 "Disgenet " 11460 SUOX "Error, Inborn Metabolism" MONDO_0019052 "Disgenet " 11460 SUOX "isolated sulfite oxidase deficiency" MONDO:0010089 "ClinGen " 11460 SUOX "Sulfite oxidase deficiency" MONDO_0010089 "Disgenet " 11474 SURF1 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 11474 SURF1 "Deficiency of cytochrome a3" MONDO_0009068 "Disgenet " 11474 SURF1 "mitochondrial disease" MONDO:0044970 "ClinGen " 11474 SURF1 "Leigh syndrome" MONDO:0009723 "ClinGen " 11474 SURF1 CMT4K MONDO_0014733 "Disgenet " 11474 SURF1 "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1" MONDO_0700250 "Disgenet " 11474 SURF1 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 1148 BUB1 "Malignant neoplasm of pancreas" MONDO_0021040 "Disgenet " 1148 BUB1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1148 BUB1 "Malignant neoplasm of large intestine" MONDO_0005575 "Disgenet " 1148 BUB1 "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 1148 BUB1 "colorectal cancer" MONDO:0005575 "ClinGen " 1148 BUB1 CRC MONDO_0005335 "Disgenet " 1148 BUB1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11491 SYK Colitides MONDO_0005534 "Disgenet " 11491 SYK Arthritides MONDO_0005578 "Disgenet " 11491 SYK Melanoma MONDO_0005105 "Disgenet " 11491 SYK Dermatitides MONDO_0002406 "Disgenet " 11491 SYK "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 11494 SYN1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 11494 SYN1 Schizophrenias MONDO_0005090 "Disgenet " 11494 SYN1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11494 SYN1 "X-linked complex neurodevelopmental disorder" MONDO:0100148 "ClinGen " 11494 SYN1 "Depressive neurosis" MONDO_0002050 "Disgenet " 11494 SYN1 Depression MONDO_0002050 "Disgenet " 11494 SYN1 MRX50 MONDO_0010251 "Disgenet " 11495 SYN2 Schizophrenias MONDO_0005090 "Disgenet " 11497 SYNGAP1 Epilepsies MONDO_0005027 "Disgenet " 11497 SYNGAP1 "Childhood autism" MONDO_0005260 "Disgenet " 11497 SYNGAP1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 11497 SYNGAP1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11497 SYNGAP1 MRD5 MONDO_0012960 "Disgenet " 11497 SYNGAP1 Schizophrenias MONDO_0005090 "Disgenet " 11497 SYNGAP1 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 11497 SYNGAP1 "Stereotypic Movement Disorder" MONDO_0002265 "Disgenet " 11497 SYNGAP1 "Global developmental delay" "Disgenet " 11497 SYNGAP1 "epileptic encephalopathy" "Disgenet " 11497 SYNGAP1 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 11498 SYNGR1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 11498 SYNGR1 Schizophrenias MONDO_0005090 "Disgenet " 115 ACLY Obesity MONDO_0019182 "Disgenet " 115 ACLY "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11503 SYNJ1 EIEE53 MONDO_0033362 "Disgenet " 11503 SYNJ1 "Parkinson Disease" MONDO_0014796 "Disgenet " 11503 SYNJ1 "PARKINSON DISEASE 20, EARLY-ONSET" MONDO_0014233 "Disgenet " 11503 SYNJ1 "developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 11503 SYNJ1 "Early onset Parkinson's disease" MONDO_0017279 "Disgenet " 11504 SYNJ2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 11506 SYP MRX96 MONDO_0010429 "Disgenet " 11506 SYP "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 11506 SYP "non-syndromic X-linked intellectual disability" MONDO:0019181 "ClinGen " 11506 SYP Schizophrenias MONDO_0005090 "Disgenet " 11509 SYT1 BAGOS MONDO_0033864 "Disgenet " 11509 SYT1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 11510 SYT2 "MYASTHENIC SYNDROME, CONGENITAL, 7A, PRESYNAPTIC, AND DISTAL MOTOR NEUROPATHY, AUTOSOMAL DOMINANT" MONDO_0014468 "Disgenet " 11510 SYT2 "CONGEN MYASTHENIA GRAVIS" MONDO_0018940 "Disgenet " 11510 SYT2 "congenital myasthenic syndrome 7" MONDO:0014468 "ClinGen " 11510 SYT2 "CONGEN MYASTHENIC SYNDROMES PRESYNAPTIC" MONDO_0018940 "Disgenet " 11517 TAC1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 11517 TAC1 "NEUROGENIC INFLAMM" "Disgenet " 11517 TAC1 Schizophrenias MONDO_0005090 "Disgenet " 11517 TAC1 Alcoholism MONDO_0002046 "Disgenet " 11517 TAC1 Amnesia MONDO_0001152 "Disgenet " 11517 TAC1 Hyperemia "Disgenet " 11517 TAC1 "Affective Disorders" MONDO_0005371 "Disgenet " 11517 TAC1 "Depressive neurosis" MONDO_0002050 "Disgenet " 11517 TAC1 Depression MONDO_0002050 "Disgenet " 11517 TAC1 Anorexia "Disgenet " 1152 POPDC1 "limb girdle muscular dystrophy" MONDO_0016971 "Disgenet " 1152 POPDC1 LGMD2X MONDO_0014782 "Disgenet " 1152 BVES "autosomal recessive limb-girdle muscular dystrophy" MONDO:0015152 "ClinGen " 11523 TACC2 "Cancer, Breast" MONDO_0007254 "Disgenet " 11524 TACC3 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 11524 TACC3 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 11524 TACC3 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11526 TACR1 Alcoholism MONDO_0002046 "Disgenet " 11526 TACR1 "Affective Disorders" MONDO_0005371 "Disgenet " 11526 TACR1 Depression MONDO_0002050 "Disgenet " 11526 TACR1 "Depressive neurosis" MONDO_0002050 "Disgenet " 11526 TACR1 "High blood pressure" MONDO_0005044 "Disgenet " 11526 TACR1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 11526 TACR1 "NEUROGENIC INFLAMM" "Disgenet " 11527 TACR2 Asthma MONDO_0004979 "Disgenet " 11529 EPCAM "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 11529 EPCAM HNPCC MONDO_0018630 "Disgenet " 11529 EPCAM Carcinoma MONDO_0004993 "Disgenet " 11529 EPCAM Epithelioma MONDO_0004993 "Disgenet " 11529 EPCAM "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 11529 EPCAM "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 11529 EPCAM "Hereditary Breast and Ovarian Cancer Syndrome" MONDO_0003582 "Disgenet " 11529 EPCAM "DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL" MONDO_0013184 "Disgenet " 11529 EPCAM "Colorectal Neoplasms, Hereditary Nonpolyposis" MONDO_0005835 "Disgenet " 11529 EPCAM "Congenital epithelial dysplasia of intestine (disorder)" MONDO_0013184 "Disgenet " 11529 EPCAM "Lynch Syndrome" MONDO_0005835 "Disgenet " 11529 EPCAM "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 11529 EPCAM "hereditary breast carcinoma" MONDO:0016419 "ClinGen " 11529 EPCAM "Lynch syndrome" MONDO:0005835 "ClinGen " 11529 EPCAM "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 11529 EPCAM "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11530 TACSTD2 "Corneal dystrophy" MONDO_0018102 "Disgenet " 11530 TACSTD2 "Corneal Dystrophies, Hereditary" MONDO_0012199 "Disgenet " 11530 TACSTD2 "CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE" MONDO_0008777 "Disgenet " 11535 TAF1 XDP MONDO_0010747 "Disgenet " 11535 TAF1 "Dystonia Musculorum Deformans" MONDO_0000476 "Disgenet " 11535 TAF1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11535 TAF1 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 11546 TAF13 MRT60 MONDO_0044313 "Disgenet " 11547 TAF15 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 11547 TAF15 "Extraosseous Chondrosarcoma" MONDO_0012825 "Disgenet " 11547 TAF15 Chondrosarcoma MONDO_0008977 "Disgenet " 11547 TAF15 "amyotrophic lateral sclerosis" MONDO:0004976 "ClinGen " 11551 BRF1 "CEREBELLAR-FACIAL-DENTAL SYNDROME" MONDO_0014529 "Disgenet " 11553 TAGLN "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 11553 TAGLN "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 11554 TAGLN2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11556 TAL1 "Leukemia, T Cell" MONDO_0004963 "Disgenet " 11556 TAL1 "Precursor T-cell lymphoblastic leukaemia" MONDO_0020512 "Disgenet " 11556 TAL1 ALL MONDO_0004967 "Disgenet " 11559 TALDO1 "TRANSALDOLASE DEFICIENCY" MONDO_0011624 "Disgenet " 11559 TALDO1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11566 TAPBP "BARE LYMPHOCYTE SYNDROME, TYPE I" MONDO_0011476 "Disgenet " 11566 TAPBP "MHC class I deficiency" MONDO:0011476 "ClinGen " 11571 TARDBP "amyotrophic lateral sclerosis type 10" MONDO:0012790 "ClinGen " 11571 TARDBP "Frontotemporal Lobar Degeneration" "Disgenet " 11571 TARDBP "Degenerative disease of nervous system, unspecified" MONDO_0005559 "Disgenet " 11571 TARDBP "AMYOTROPHIC LATERAL SCLEROSIS 1" MONDO_0005144 "Disgenet " 11571 TARDBP ALS10 MONDO_0012790 "Disgenet " 11571 TARDBP "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 11571 TARDBP "Motor Neuron Disease" MONDO_0008780 "Disgenet " 11571 TARDBP "Frontotemporal dementia" MONDO_0017276 "Disgenet " 11571 TARDBP "Parkinson Disease" MONDO_0014796 "Disgenet " 11571 TARDBP FTDMND MONDO_0007105 "Disgenet " 11571 TARDBP "degenerative disorders" MONDO_0005559 "Disgenet " 11572 TARS1 TTD7 MONDO_0032806 "Disgenet " 11577 TAFAZZIN "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 11577 TAFAZZIN "Barth syndrome" MONDO:0010543 "ClinGen " 11577 TAFAZZIN "Endocardial Fibroelastoses" MONDO_0009169 "Disgenet " 11577 TAFAZZIN "Familial dilated cardiomyopathy" MONDO_0016333 "Disgenet " 11577 TAFAZZIN Cardiomyopathy MONDO_0004994 "Disgenet " 11577 TAFAZZIN "Left ventricular noncompaction" MONDO_0018901 "Disgenet " 11577 TAFAZZIN BTHS MONDO_0010543 "Disgenet " 11578 TBC1D1 Obesity MONDO_0019182 "Disgenet " 1158 TSPO "Bipolar Disorders" MONDO_0004985 "Disgenet " 11581 TBCD "early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome" MONDO:0044646 "ClinGen " 11581 TBCD "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM" MONDO_0044646 "Disgenet " 11582 TBCE "encephalopathy, progressive, with amyotrophy and optic atrophy" MONDO:0014968 "ClinGen " 11582 TBCE "HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME" MONDO_0009426 "Disgenet " 11582 TBCE Hypoparathyroidism MONDO_0001220 "Disgenet " 11582 TBCE "KENNY-CAFFEY SYNDROME, TYPE 1" MONDO_0009486 "Disgenet " 11583 SERPINA7 "Thyroxine-Binding Globulin Deficiency" "Disgenet " 11584 TBK1 "Motor Neuron Disease" MONDO_0008780 "Disgenet " 11584 TBK1 "frontotemporal dementia and/or amyotrophic lateral sclerosis 4" MONDO:0014641 "ClinGen " 11584 TBK1 "Herpes encephalitis" MONDO_0012521 "Disgenet " 11584 TBK1 FTDMND MONDO_0007105 "Disgenet " 11584 TBK1 FTDALS4 MONDO_0014641 "Disgenet " 11584 TBK1 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 11588 TBP "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 11588 TBP Schizophrenias MONDO_0005090 "Disgenet " 11588 TBP HDL4 MONDO_0011781 "Disgenet " 11592 TBX1 "DiGeorge's syndrome" MONDO_0018923 "Disgenet " 11592 TBX1 "Shprintzen syndrome" MONDO_0008564 "Disgenet " 11592 TBX1 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 11592 TBX1 "Fallot Tetralogy" MONDO_0008542 "Disgenet " 11592 TBX1 Schizophrenias MONDO_0005090 "Disgenet " 11592 TBX1 "Unspecified nonorganic psychosis" "Disgenet " 11592 TBX1 CRC MONDO_0005335 "Disgenet " 11592 TBX1 "Affective Disorders" MONDO_0005371 "Disgenet " 11592 TBX1 "CHROMOSOME 22q11.2 DUPLICATION SYNDROME" MONDO_0012020 "Disgenet " 11592 TBX1 Psychosis MONDO_0005485 "Disgenet " 11592 TBX1 Hypoparathyroidism MONDO_0001220 "Disgenet " 11592 TBX1 "Abnormalities, Craniofacial" "Disgenet " 11592 TBX1 "Truncus Arteriosus, Persistent" MONDO_0018072 "Disgenet " 11592 TBX1 CAFS MONDO_0008564 "Disgenet " 11592 TBX1 "Ventricular septal defect" MONDO_0002070 "Disgenet " 11592 TBX1 Epilepsies MONDO_0005027 "Disgenet " 11594 TBX15 "COUSIN SYNDROME" MONDO_0009845 "Disgenet " 11595 TBX18 PUJO MONDO_0027676 "Disgenet " 11595 TBX18 Cakut MONDO_0019719 "Disgenet " 11596 TBX19 "ACTH deficiency (disorder)" MONDO_0008720 "Disgenet " 11596 TBX19 "Congenital Isolated ACTH Deficiency" MONDO_0008720 "Disgenet " 11596 TBX19 "Adrenal Gland Hypofunction" MONDO_0000004 "Disgenet " 11596 TBX19 "ACTH DEFICIENCY, ISOLATED" MONDO_0008720 "Disgenet " 11597 TBX2 "VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION" MONDO_0032607 "Disgenet " 11598 TBX20 "ATRIAL SEPTAL DEFECT 4" MONDO_0012654 "Disgenet " 11598 TBX20 "Atrial septal defect" MONDO_0006664 "Disgenet " 11598 TBX20 "congenital heart disorder" MONDO_0005453 "Disgenet " 11598 TBX20 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 11598 TBX20 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 11598 TBX20 "congenital heart disease" MONDO:0005453 "ClinGen " 11598 TBX20 "Left ventricular noncompaction" MONDO_0018901 "Disgenet " 11598 TBX20 "Fallot Tetralogy" MONDO_0008542 "Disgenet " 11598 TBX20 "Ventricular septal defect" MONDO_0002070 "Disgenet " 11598 TBX20 "Heart failure" MONDO_0005252 "Disgenet " 11598 TBX20 "Congestive heart failure" MONDO_0005252 "Disgenet " 11598 TBX20 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 11599 TBX21 Asthma MONDO_0004979 "Disgenet " 1160 TWNK "Progressive external ophthalmoplegia" MONDO_0019016 "Disgenet " 1160 TWNK "SCA8, FORMERLY" MONDO_0010060 "Disgenet " 1160 TWNK PEOA3 MONDO_0012241 "Disgenet " 1160 TWNK "mitochondrial dna depletion" MONDO_0018158 "Disgenet " 1160 TWNK "adPEO - autosomal dominant progressive external ophthalmoplegia" MONDO_0008003 "Disgenet " 1160 TWNK "Perrault syndrome" MONDO_0017312 "Disgenet " 1160 TWNK "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 11602 TBX3 "ULNAR-MAMMARY SYNDROME" MONDO_0008411 "Disgenet " 11602 TBX3 "Limb Deformities, Congenital" MONDO_0017427 "Disgenet " 11602 TBX3 "Breast Neoplasms" MONDO_0021100 "Disgenet " 11602 TBX3 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 11604 TBX5 "Atrioventricular septal defect" MONDO_0020290 "Disgenet " 11604 TBX5 "Holt-Oram syndrome" MONDO_0008800 "Disgenet " 11604 TBX5 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 11604 TBX5 "Ventricular septal defect" MONDO_0002070 "Disgenet " 11604 TBX5 "Atrial septal defect" MONDO_0006664 "Disgenet " 11604 TBX5 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 11604 TBX5 "Holt-Oram syndrome" MONDO:0007732 "ClinGen " 11604 TBX5 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 11605 TBX6 Cakut MONDO_0019719 "Disgenet " 11605 TBX6 Scolioses MONDO_0005392 "Disgenet " 11605 TBX6 "Autosomal dominant spondylocostal dysplasia" MONDO_0015826 "Disgenet " 11605 TBX6 SCDO5 MONDO_0007389 "Disgenet " 11608 TBXA2R "Blood Platelet Disorder" MONDO_0002245 "Disgenet " 11608 TBXA2R "qualitative platelet defect" MONDO:0001197 "ClinGen " 11608 TBXA2R Asthma MONDO_0004979 "Disgenet " 11609 TBXAS1 "GHOSAL HEMATODIAPHYSEAL DYSPLASIA" MONDO_0009274 "Disgenet " 11609 TBXAS1 "ghosal hematodiaphyseal dysplasia" MONDO:0009274 "ClinGen " 11609 TBXAS1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11609 TBXAS1 "Cancer, Breast" MONDO_0007254 "Disgenet " 11610 TCAP "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25" MONDO_0011843 "Disgenet " 11610 TCAP LGMD2G MONDO_0011170 "Disgenet " 11610 TCAP "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 11610 TCAP Cardiomyopathy MONDO_0004994 "Disgenet " 11610 TCAP "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 11610 TCAP "autosomal recessive limb-girdle muscular dystrophy" MONDO:0015152 "ClinGen " 11610 TCAP "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 11610 TCAP "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 11610 TCAP "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 11617 ELOC "Renal cell carcinoma" MONDO_0005549 "Disgenet " 11621 HNF1A "Cancer, Ovarian" MONDO_0008170 "Disgenet " 11621 HNF1A MODY1 MONDO_0007452 "Disgenet " 11621 HNF1A Hypoglycemia MONDO_0004946 "Disgenet " 11621 HNF1A "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 11621 HNF1A "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 11621 HNF1A "Coronary Disease" MONDO_0005010 "Disgenet " 11621 HNF1A "Glucose Intolerance" MONDO_0001076 "Disgenet " 11621 HNF1A hypernephroma MONDO_0005086 "Disgenet " 11621 HNF1A "chromophobe type renal cell carcinoma (diagnosis)" MONDO_0017885 "Disgenet " 11621 HNF1A "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11621 HNF1A "Renal cell carcinoma" MONDO_0005549 "Disgenet " 11621 HNF1A Hyperglycemia MONDO_0002909 "Disgenet " 11621 HNF1A "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11621 HNF1A "Monogenic diabetes" MONDO_0015967 "Disgenet " 11621 HNF1A MODY3 MONDO_0010894 "Disgenet " 11621 HNF1A "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 11621 HNF1A "Maturity onset diabetes mellitus in young" MONDO_0018911 "Disgenet " 11621 HNF1A "monogenic diabetes" MONDO:0015967 "ClinGen " 11621 HNF1A IDDM20 MONDO_0012919 "Disgenet " 11621 HNF1A "Diabetes, Gestational" MONDO_0005406 "Disgenet " 11621 HNF1A "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 11621 HNF1A "Diabetes Mellitus" MONDO_0005015 "Disgenet " 11621 HNF1A "Liver cell adenoma" MONDO_0018902 "Disgenet " 11623 TCF12 CRS3 MONDO_0014128 "Disgenet " 11623 TCF12 "Extraosseous Chondrosarcoma" MONDO_0012825 "Disgenet " 11623 TCF12 "Craniosynostosis (coronal)" "Disgenet " 11623 TCF12 "Syndrome, Kallmann's" MONDO_0013961 "Disgenet " 11623 TCF12 "TCF12-related craniosynostosis" MONDO:0014128 "ClinGen " 11623 TCF12 Craniosynostosis MONDO_0015469 "Disgenet " 11629 TCF19 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11631 TCF20 "DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES" MONDO_0032745 "Disgenet " 11631 TCF20 "developmental delay with variable intellectual impairment and behavioral abnormalities" MONDO:0032745 "ClinGen " 11631 TCF20 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11631 TCF20 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 11631 TCF20 "Autistic behaviors" "Disgenet " 11632 TCF21 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 11632 TCF21 "Coronary Disease" MONDO_0005010 "Disgenet " 11632 TCF21 "Ventricular septal defect" MONDO_0002070 "Disgenet " 11632 TCF21 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 11632 TCF21 "congenital heart disease" MONDO:0005453 "ClinGen " 11633 TCF3 "autosomal agammaglobulinemia" MONDO:0011096 "ClinGen " 11633 TCF3 Hypogammaglobulinemias MONDO_0015977 "Disgenet " 11633 TCF3 "Burkitt Lymphoma" MONDO_0007243 "Disgenet " 11633 TCF3 ALL MONDO_0004967 "Disgenet " 11633 TCF3 CRC MONDO_0005335 "Disgenet " 11633 TCF3 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11633 TCF3 Agammaglobulinemia MONDO_0015977 "Disgenet " 11634 TCF4 "Pitt-Hopkins syndrome" MONDO:0012589 "ClinGen " 11634 TCF4 Microcephalies MONDO_0001149 "Disgenet " 11634 TCF4 "Bipolar Disorders" MONDO_0004985 "Disgenet " 11634 TCF4 "Child Development Disorder" MONDO_0005287 "Disgenet " 11634 TCF4 Schizophrenias MONDO_0005090 "Disgenet " 11634 TCF4 "Dystrophy, Fuch's Endothelial" MONDO_0005321 "Disgenet " 11634 TCF4 "PITT-HOPKINS SYNDROME" MONDO_0012589 "Disgenet " 11634 TCF4 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11634 TCF4 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 11634 TCF4 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 11634 TCF4 "Global developmental delay" "Disgenet " 11634 TCF4 "primary sclerosing cholangitis (diagnosis)" MONDO_0018646 "Disgenet " 11634 TCF4 "Unspecified nonorganic psychosis" "Disgenet " 11634 TCF4 Psychosis MONDO_0005485 "Disgenet " 11634 TCF4 "Mild mental retardation" "Disgenet " 11639 TCF7 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 11641 TCF7L2 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 11641 TCF7L2 "Coronary Disease" MONDO_0005010 "Disgenet " 11641 TCF7L2 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 11641 TCF7L2 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 11641 TCF7L2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11641 TCF7L2 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 11641 TCF7L2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 11641 TCF7L2 "Diabetes, Gestational" MONDO_0005406 "Disgenet " 11641 TCF7L2 Schizophrenias MONDO_0005090 "Disgenet " 11641 TCF7L2 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 11641 TCF7L2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 11641 TCF7L2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11641 TCF7L2 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 11641 TCF7L2 "Cancer, Breast" MONDO_0007254 "Disgenet " 11641 TCF7L2 CRC MONDO_0005335 "Disgenet " 11642 ZEB1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 11642 ZEB1 PPCD3 MONDO_0012200 "Disgenet " 11642 ZEB1 "Dystrophy, Fuch's Endothelial" MONDO_0005321 "Disgenet " 11642 ZEB1 "Corneal dystrophy" MONDO_0018102 "Disgenet " 11642 ZEB1 "Corneal Dystrophies, Hereditary" MONDO_0012199 "Disgenet " 11642 ZEB1 "Papillary Thyroid Carcinoma" MONDO_0005075 "Disgenet " 11642 ZEB1 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 11642 ZEB1 PPCD MONDO_0020364 "Disgenet " 11642 ZEB1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 11642 ZEB1 "Fibroses, Oral Submucous" MONDO_0018166 "Disgenet " 11642 ZEB1 PPCD1 MONDO_0007378 "Disgenet " 11645 MLX "Arteritis, Takayasu" MONDO_0017991 "Disgenet " 11647 TCIRG1 DYSOSTEOSCLEROSIS MONDO_0009138 "Disgenet " 11647 TCIRG1 Osteoscleroses MONDO_0002933 "Disgenet " 11647 TCIRG1 dysosteosclerosis MONDO:0009138 "ClinGen " 11647 TCIRG1 "autosomal recessive osteopetrosis 1" MONDO:0009815 "ClinGen " 11647 TCIRG1 "Congenital neutropenia" MONDO_0015134 "Disgenet " 11647 TCIRG1 "Severe osteopetrosis" MONDO_0019026 "Disgenet " 11647 TCIRG1 "osteopetrosis - autosomal recessive (diagnosis)" MONDO_0019026 "Disgenet " 11647 TCIRG1 OPTB1 MONDO_0019026 "Disgenet " 11647 TCIRG1 "Albers Schoenberg Disease" MONDO_0012859 "Disgenet " 1165 DAGLA "Childhood autism" MONDO_0005260 "Disgenet " 11653 TCN2 Pancytopenia MONDO_0001529 "Disgenet " 11653 TCN2 "transcobalamin II deficiency" MONDO:0010149 "ClinGen " 11653 TCN2 "Anemia, Megaloblastic" MONDO_0001700 "Disgenet " 11653 TCN2 "Transcobalamin II deficiency" MONDO_0010149 "Disgenet " 11653 TCN2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11654 TCOF1 "Abnormalities, Craniofacial" "Disgenet " 11654 TCOF1 "Treacher-Collins syndrome" MONDO:0002457 "ClinGen " 11654 TCOF1 "Dysostoses, Mandibulofacial" MONDO_0015483 "Disgenet " 11655 TCP1 "Cancer, Breast" MONDO_0007254 "Disgenet " 1171 ELP4 "ocular dysgenesis caused by defects in PAX6 regulation" MONDO:0700246 "ClinGen " 1171 ELP4 Aniridia MONDO_0007119 "Disgenet " 11714 TEAD1 SCRA MONDO_0007176 "Disgenet " 1172 VPS51 "PONTOCEREBELLAR HYPOPLASIA, TYPE 13" MONDO_0032831 "Disgenet " 11720 TECTA "DEAFNESS, AUTOSOMAL RECESSIVE 21" MONDO_0011351 "Disgenet " 11720 TECTA DFNA8 MONDO_0011102 "Disgenet " 11720 TECTA "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 11720 TECTA Hypoacusis MONDO_0005365 "Disgenet " 11720 TECTA "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 11720 TECTA "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 11720 TECTA "Isolated Deafness" MONDO_0019497 "Disgenet " 11722 TEF "Depressions, Unipolar" MONDO_0002050 "Disgenet " 11722 TEF "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 11724 TEK hypernephroma MONDO_0005086 "Disgenet " 11724 TEK "Bean Syndrome" MONDO_0007203 "Disgenet " 11724 TEK Hydrophthalmos MONDO_0009277 "Disgenet " 11724 TEK "Cancer, Breast" MONDO_0007254 "Disgenet " 11724 TEK "VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL" MONDO_0010842 "Disgenet " 11724 TEK "TEK-related primary glaucoma" MONDO:0800182 "ClinGen " 11724 TEK "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 11724 TEK "Congenital abnormality of vein" "Disgenet " 11724 TEK Angiosarcomas MONDO_0016982 "Disgenet " 11724 TEK "Vascular anomaly" MONDO_0024291 "Disgenet " 11724 TEK "Racemose haemangioma" MONDO_0001256 "Disgenet " 11730 TERT "Well Differentiated Thyroid Carcinoma" MONDO_0015447 "Disgenet " 11730 TERT Meningiomas MONDO_0016642 "Disgenet " 11730 TERT "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 11730 TERT Neuroblastoma MONDO_0005072 "Disgenet " 11730 TERT "malignant squamous cell neoplasm of oral cavity (diagnosis)" MONDO_0004958 "Disgenet " 11730 TERT "Liver Neoplasm" MONDO_0002691 "Disgenet " 11730 TERT "Malignant neoplasm of brain" MONDO_0001657 "Disgenet " 11730 TERT "Glioma, malignant" MONDO_0100342 "Disgenet " 11730 TERT "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 11730 TERT COPD MONDO_0005002 "Disgenet " 11730 TERT Hepatoblastoma MONDO_0018666 "Disgenet " 11730 TERT "DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT" MONDO_0007485 "Disgenet " 11730 TERT "Myeloid neoplasia" MONDO_0005170 "Disgenet " 11730 TERT "Telomere Syndrome" MONDO_0100137 "Disgenet " 11730 TERT "Coronary Disease" MONDO_0005010 "Disgenet " 11730 TERT "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 11730 TERT "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 11730 TERT "Cri-du-Chat Syndrome" MONDO_0007404 "Disgenet " 11730 TERT "Depressions, Unipolar" MONDO_0002050 "Disgenet " 11730 TERT "HOYERAAL-HREIDARSSON SYNDROME" MONDO_0018045 "Disgenet " 11730 TERT "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 11730 TERT "Interstitial lung disease" MONDO_0015925 "Disgenet " 11730 TERT "Adrenal cortical carcinoma" MONDO_0006639 "Disgenet " 11730 TERT "Hereditary Cutaneous Melanoma" MONDO_0018961 "Disgenet " 11730 TERT DKCA2 MONDO_0013521 "Disgenet " 11730 TERT Melanoma MONDO_0005105 "Disgenet " 11730 TERT "Fibrosing alveolitis" MONDO_0800029 "Disgenet " 11730 TERT "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 11730 TERT Gliomas MONDO_0021042 "Disgenet " 11730 TERT "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11730 TERT "carcinoma of gallbladder (diagnosis)" MONDO_0003220 "Disgenet " 11730 TERT ALL MONDO_0004967 "Disgenet " 11730 TERT "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 11730 TERT "Short telomere length" "Disgenet " 11730 TERT "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 11730 TERT "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 11730 TERT GIST MONDO_0011719 "Disgenet " 11730 TERT "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 11730 TERT "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 11730 TERT "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11730 TERT "Cervical Neoplasm" MONDO_0021230 "Disgenet " 11730 TERT "Brain Neoplasms" MONDO_0021211 "Disgenet " 11730 TERT "dyskeratosis congenita, autosomal dominant 2" MONDO:0013521 "ClinGen " 11730 TERT "Deficiency Syndrome, Immunological" MONDO_0021094 "Disgenet " 11730 TERT "Aplastic anemia" MONDO_0015909 "Disgenet " 11730 TERT "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 11730 TERT "Neoplasm, Thyroid" MONDO_0015074 "Disgenet " 11730 TERT "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 11730 TERT "Dyskeratosis Congenita" MONDO_0015780 "Disgenet " 11730 TERT "Breast Neoplasms" MONDO_0021100 "Disgenet " 11730 TERT "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 11730 TERT "Lung Neoplasm" MONDO_0002732 "Disgenet " 11740 TF "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 11740 TF "Restless legs syndrome" MONDO_0005391 "Disgenet " 11740 TF "Fatty Liver" MONDO_0004790 "Disgenet " 11740 TF "Acute kidney injury" MONDO_0002492 "Disgenet " 11740 TF "Abuse, Alcohol" MONDO_0002046 "Disgenet " 11740 TF "Alzheimer Disease" MONDO_0012630 "Disgenet " 11740 TF ATRANSFERRINEMIA MONDO_0008846 "Disgenet " 11740 TF Anemia MONDO_0002280 "Disgenet " 11740 TF "Iron Overload" "Disgenet " 11740 TF Hyperglycemia MONDO_0002909 "Disgenet " 11740 TF Carcinoma MONDO_0004993 "Disgenet " 11740 TF Obesity MONDO_0019182 "Disgenet " 11740 TF "Childhood autism" MONDO_0005260 "Disgenet " 11740 TF Schizophrenias MONDO_0005090 "Disgenet " 11740 TF "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 11740 TF "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 11741 TFAM "Alzheimer Disease" MONDO_0012630 "Disgenet " 11741 TFAM "Chorea, Huntington" MONDO_0011671 "Disgenet " 11741 TFAM "Parkinson Disease" MONDO_0014796 "Disgenet " 11741 TFAM MTDPS15 MONDO_0014943 "Disgenet " 11744 TFAP2C "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 11752 TFE3 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 11752 TFE3 "MiT family translocation renal cell carcinoma (morphologic abnormality)" MONDO_0017886 "Disgenet " 11752 TFE3 "Alveolar soft part sarcoma" MONDO_0011655 "Disgenet " 11752 TFE3 "Hemangioendothelioma, Epithelioid" MONDO_0015523 "Disgenet " 11752 TFE3 "X-linked syndromic complex neurodevelopmental disorder" MONDO:1040018 "ClinGen " 11753 TFEB "MiT family translocation renal cell carcinoma (morphologic abnormality)" MONDO_0017886 "Disgenet " 11757 TFF3 Nephropathy MONDO_0005240 "Disgenet " 11757 TFF3 "Acute kidney injury" MONDO_0002492 "Disgenet " 11757 TFF3 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 11760 TFPI "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 11760 TFPI "Deficiencies, Protein S" MONDO_0002304 "Disgenet " 11760 TFPI "Coagulations, Disseminated Intravascular" MONDO_0001243 "Disgenet " 11760 TFPI "Hemophilia A" MONDO_0010602 "Disgenet " 11761 TFPI2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11761 TFPI2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11761 TFPI2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 11761 TFPI2 Melanoma MONDO_0005105 "Disgenet " 11761 TFPI2 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 11762 TFR2 beta-Thalassemia MONDO_0013517 "Disgenet " 11762 TFR2 Hemochromatosis MONDO_0001436 "Disgenet " 11762 TFR2 "HEMOCHROMATOSIS, TYPE 3" MONDO_0011417 "Disgenet " 11762 TFR2 "Hereditary hemochromatosis" MONDO_0006507 "Disgenet " 11762 TFR2 HFE MONDO_0006507 "Disgenet " 11763 TFRC Obesity MONDO_0019182 "Disgenet " 11763 TFRC beta-Thalassemia MONDO_0013517 "Disgenet " 11763 TFRC "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 11763 TFRC "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 11763 TFRC "Cancer, Ovarian" MONDO_0008170 "Disgenet " 11763 TFRC IMD46 MONDO_0014760 "Disgenet " 11763 TFRC "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 11763 TFRC "Ovary Syndrome, Polycystic" MONDO_0008487 "Disgenet " 11763 TFRC "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 11763 TFRC "Lung Neoplasm" MONDO_0002732 "Disgenet " 11763 TFRC "Combined immunodeficiencies" MONDO_0015131 "Disgenet " 11763 TFRC "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 11763 TFRC "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 11763 TFRC "TFRC-related combined immunodeficiency" MONDO:0014760 "ClinGen " 11763 TFRC "Disorders of iron metabolism" MONDO_0014225 "Disgenet " 11763 TFRC "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11763 TFRC Gliomas MONDO_0021042 "Disgenet " 11763 TFRC "Multiple Myeloma" MONDO_0009693 "Disgenet " 11763 TFRC "Breast Neoplasms" MONDO_0021100 "Disgenet " 11763 TFRC "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 11764 TG Dwarfism "Disgenet " 11764 TG "thyroid dyshormonogenesis" MONDO_0010132 "Disgenet " 11764 TG Goiter MONDO_0005397 "Disgenet " 11764 TG "Hashimoto's disease" MONDO_0007699 "Disgenet " 11764 TG "Autoimmune Thyroiditides" MONDO_0007699 "Disgenet " 11764 TG "GRAVES DISEASE" MONDO_0005364 "Disgenet " 11765 TGFA "Head and Neck Neoplasms" MONDO_0005586 "Disgenet " 11765 TGFA "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11765 TGFA "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 11765 TGFA "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11765 TGFA "Liver Neoplasm" MONDO_0002691 "Disgenet " 11765 TGFA Psoriases MONDO_0005083 "Disgenet " 11765 TGFA "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 11765 TGFA "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 11765 TGFA "lung injury" "Disgenet " 11765 TGFA Papilloma MONDO_0002363 "Disgenet " 11765 TGFA Hepatoblastoma MONDO_0018666 "Disgenet " 11766 TGFB1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 11766 TGFB1 "Camurati Engelmann Syndrome" MONDO_0007542 "Disgenet " 11766 TGFB1 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 11766 TGFB1 "Cystic Fibrosis" MONDO_0009061 "Disgenet " 11766 TGFB1 "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 11766 TGFB1 Asthma MONDO_0004979 "Disgenet " 11766 TGFB1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11766 TGFB1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 11766 TGFB1 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 11766 TGFB1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11766 TGFB1 COPD MONDO_0005002 "Disgenet " 11766 TGFB1 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 11766 TGFB1 "Diseases, Lung" MONDO_0005275 "Disgenet " 11766 TGFB1 "Dry eye syndrome" MONDO_0006733 "Disgenet " 11766 TGFB1 "primary biliary cirrhosis" MONDO_0005388 "Disgenet " 11766 TGFB1 "Acute kidney injury" MONDO_0002492 "Disgenet " 11766 TGFB1 Myopathy MONDO_0003939 "Disgenet " 11766 TGFB1 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 11766 TGFB1 "Autoimmune Hepatitides" MONDO_0016264 "Disgenet " 11766 TGFB1 Uveitides MONDO_0020283 "Disgenet " 11766 TGFB1 Epilepsies MONDO_0005027 "Disgenet " 11766 TGFB1 "Behcet Syndrome" MONDO_0007191 "Disgenet " 11766 TGFB1 "Aplastic anemia" MONDO_0015909 "Disgenet " 11766 TGFB1 "Cancer, Squamous Cell" MONDO_0002532 "Disgenet " 11766 TGFB1 "Diabetic Neuropathies" MONDO_0006626 "Disgenet " 11766 TGFB1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 11766 TGFB1 "Sarcoidosis, Pulmonary" MONDO_0001708 "Disgenet " 11766 TGFB1 "Idiopathic thrombocythemia" MONDO_0005029 "Disgenet " 11766 TGFB1 "Alcoholic Liver Cirrhosis" MONDO_0006644 "Disgenet " 11766 TGFB1 "Unspecified nonorganic psychosis" "Disgenet " 11766 TGFB1 Psychosis MONDO_0005485 "Disgenet " 11766 TGFB1 "Affective Disorders" MONDO_0005371 "Disgenet " 11766 TGFB1 "Duodenal Ulcer" MONDO_0005412 "Disgenet " 11766 TGFB1 Hyperuricemia "Disgenet " 11766 TGFB1 Gout MONDO_0005393 "Disgenet " 11766 TGFB1 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 11766 TGFB1 "GRAVES DISEASE" MONDO_0005364 "Disgenet " 11766 TGFB1 "Multiple Myeloma" MONDO_0009693 "Disgenet " 11766 TGFB1 Osteoporoses MONDO_0005298 "Disgenet " 11766 TGFB1 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 11766 TGFB1 "Bergers Disease" MONDO_0005342 "Disgenet " 11766 TGFB1 "Cavernitides, Fibrous" MONDO_0008231 "Disgenet " 11766 TGFB1 Papilloma MONDO_0002363 "Disgenet " 11766 TGFB1 "Peritoneal fibrosis" "Disgenet " 11766 TGFB1 "Disease, Schaumann" MONDO_0008399 "Disgenet " 11766 TGFB1 "Bone Losses, Perimenopausal" MONDO_0008159 "Disgenet " 11766 TGFB1 Epithelioma MONDO_0004993 "Disgenet " 11766 TGFB1 Carcinoma MONDO_0004993 "Disgenet " 11766 TGFB1 "Neoplasm, Skin" MONDO_0002531 "Disgenet " 11766 TGFB1 "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 11766 TGFB1 "Eosinophilic esophagitis" MONDO_0005361 "Disgenet " 11766 TGFB1 Encephalopathy MONDO_0005560 "Disgenet " 11766 TGFB1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 11766 TGFB1 "Muscular Dystrophy, Duchenne" MONDO_0010679 "Disgenet " 11766 TGFB1 "Acute Lung Injury" MONDO_0015796 "Disgenet " 11766 TGFB1 "Cleft Palate" MONDO_0016064 "Disgenet " 11766 TGFB1 "Colonic adenocarcinoma" MONDO_0005401 "Disgenet " 11766 TGFB1 "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 11766 TGFB1 "Cerebrovascular accident" MONDO_0005098 "Disgenet " 11766 TGFB1 "Chronic hepatitis, unspecified" MONDO_0002251 "Disgenet " 11766 TGFB1 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 11766 TGFB1 Adenocarcinoma MONDO_0004970 "Disgenet " 11766 TGFB1 Sepsis MONDO_0005229 "Disgenet " 11766 TGFB1 Nephropathy MONDO_0005240 "Disgenet " 11766 TGFB1 "Cancer, Breast" MONDO_0007254 "Disgenet " 11766 TGFB1 "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 11766 TGFB1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11766 TGFB1 "High blood pressure" MONDO_0005044 "Disgenet " 11766 TGFB1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 11766 TGFB1 "Atopic Eczema" MONDO_0011292 "Disgenet " 11766 TGFB1 "Fibroses, Oral Submucous" MONDO_0018166 "Disgenet " 11766 TGFB1 Pneumonia MONDO_0005249 "Disgenet " 11766 TGFB1 "Depressive neurosis" MONDO_0002050 "Disgenet " 11766 TGFB1 "inflammatory bowel disease, immunodeficiency, and encephalopathy" MONDO:0032601 "ClinGen " 11766 TGFB1 Schizophrenias MONDO_0005090 "Disgenet " 11768 TGFB2 "Abnormalities, Craniofacial" "Disgenet " 11768 TGFB2 LDS4 MONDO_0013897 "Disgenet " 11768 TGFB2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11768 TGFB2 "Ehlers Danlos Syndrome" MONDO_0020066 "Disgenet " 11768 TGFB2 Endometrioses MONDO_0005133 "Disgenet " 11768 TGFB2 "familial thoracic aortic aneurysm and aortic dissection" MONDO:0019625 "ClinGen " 11768 TGFB2 "Aortic Aneurysm, Thoracic" MONDO_0005396 "Disgenet " 11768 TGFB2 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 11768 TGFB2 "Marfan Syndrome" MONDO_0007947 "Disgenet " 11768 TGFB2 "Cleft Palate" MONDO_0016064 "Disgenet " 11768 TGFB2 Glaucomas MONDO_0005041 "Disgenet " 11768 TGFB2 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 11768 TGFB2 "Aneurysms, Aortic" MONDO_0005160 "Disgenet " 11768 TGFB2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11768 TGFB2 "Loeys-Dietz Syndrome" MONDO_0018954 "Disgenet " 11769 TGFB3 RNHF MONDO_0014262 "Disgenet " 11769 TGFB3 "Loeys-Dietz Syndrome" MONDO_0018954 "Disgenet " 11769 TGFB3 ARVD1 MONDO_0007152 "Disgenet " 11769 TGFB3 "Cleft Palate" MONDO_0016064 "Disgenet " 11769 TGFB3 "Arrhythmogenic right ventricular dysplasia" MONDO_0016587 "Disgenet " 11769 TGFB3 "arrhythmogenic right ventricular cardiomyopathy" MONDO:0016587 "ClinGen " 11769 TGFB3 "familial thoracic aortic aneurysm and aortic dissection" MONDO:0019625 "ClinGen " 11771 TGFBI LCD1 MONDO_0007380 "Disgenet " 11771 TGFBI CDGG1 MONDO_0007377 "Disgenet " 11771 TGFBI "CDB type II-Corneal dystrophy of Bowmanis membrane, type II" MONDO_0011185 "Disgenet " 11771 TGFBI Sepsis MONDO_0005229 "Disgenet " 11771 TGFBI "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 11771 TGFBI "Corneal dystrophy" MONDO_0018102 "Disgenet " 11771 TGFBI "Corneal Dystrophies, Hereditary" MONDO_0012199 "Disgenet " 11771 TGFBI "CORNEAL DYSTROPHY, AVELLINO TYPE" MONDO_0011855 "Disgenet " 11771 TGFBI CDB1 MONDO_0012043 "Disgenet " 11771 TGFBI "EBMD - Epithelial basement membrane dystrophy" MONDO_0007375 "Disgenet " 11771 TGFBI "Corneal Granular Dystrophies" MONDO_0001490 "Disgenet " 11772 TGFBR1 "Marfan Syndrome" MONDO_0007947 "Disgenet " 11772 TGFBR1 "Multiple self-healing squamous epithelioma" MONDO_0007566 "Disgenet " 11772 TGFBR1 "multiple self-healing squamous epithelioma" MONDO:0007566 "ClinGen " 11772 TGFBR1 "Loeys-Dietz syndrome" MONDO:0018954 "ClinGen " 11772 TGFBR1 "familial thoracic aortic aneurysm and aortic dissection" MONDO:0019625 "ClinGen " 11772 TGFBR1 LDS1 MONDO_0012212 "Disgenet " 11772 TGFBR1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11772 TGFBR1 "Dissection of aorta" "Disgenet " 11772 TGFBR1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 11772 TGFBR1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 11772 TGFBR1 "Loeys Dietz Aortic Aneurysm Syndrome" MONDO_0018954 "Disgenet " 11772 TGFBR1 "Pancreatic Infiltrating Duct Carcinoma, NOS" MONDO_0005184 "Disgenet " 11772 TGFBR1 "Loeys-Dietz Syndrome Type 2" MONDO_0007947 "Disgenet " 11772 TGFBR1 "Neoplasm, Skin" MONDO_0002531 "Disgenet " 11772 TGFBR1 "Loeys-Dietz Syndrome" MONDO_0018954 "Disgenet " 11773 TGFBR2 "CARCINOMA OF ESOPHAGUS" MONDO_0007576 "Disgenet " 11773 TGFBR2 "Bone Neoplasms" MONDO_0002129 "Disgenet " 11773 TGFBR2 "Dissection of aorta" "Disgenet " 11773 TGFBR2 "Loeys Dietz Aortic Aneurysm Syndrome" MONDO_0018954 "Disgenet " 11773 TGFBR2 Carcinoma MONDO_0004993 "Disgenet " 11773 TGFBR2 "Connective Tissue Diseases" MONDO_0003900 "Disgenet " 11773 TGFBR2 "Aneurysms, Aortic" MONDO_0005160 "Disgenet " 11773 TGFBR2 "Aortic aneurysm, familial thoracic 3" MONDO_0012427 "Disgenet " 11773 TGFBR2 "Colorectal Neoplasms, Hereditary Nonpolyposis" MONDO_0005835 "Disgenet " 11773 TGFBR2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11773 TGFBR2 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 11773 TGFBR2 "Marfan Syndrome" MONDO_0007947 "Disgenet " 11773 TGFBR2 "Loeys-Dietz Syndrome" MONDO_0018954 "Disgenet " 11773 TGFBR2 "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 11773 TGFBR2 "familial thoracic aortic aneurysm and aortic dissection" MONDO:0019625 "ClinGen " 11773 TGFBR2 "Loeys-Dietz syndrome 2" MONDO:0012427 "ClinGen " 11773 TGFBR2 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 11773 TGFBR2 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 11773 TGFBR2 "COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6" MONDO_0013695 "Disgenet " 11773 TGFBR2 "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 11773 TGFBR2 "Loeys-Dietz Syndrome Type 2" MONDO_0007947 "Disgenet " 11773 TGFBR2 "Aortic Aneurysm, Thoracic" MONDO_0005396 "Disgenet " 11773 TGFBR2 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 11773 TGFBR2 "AORTIC ANEURYSM, FAMILIAL THORACIC 1" MONDO_0024559 "Disgenet " 11773 TGFBR2 "Lynch Syndrome" MONDO_0005835 "Disgenet " 11773 TGFBR2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 11773 TGFBR2 "Lung Neoplasm" MONDO_0002732 "Disgenet " 11773 TGFBR2 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 11773 TGFBR2 CRC MONDO_0005335 "Disgenet " 11774 TGFBR3 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 11776 TGIF1 "Microform holoprosencephaly" MONDO_0017219 "Disgenet " 11776 TGIF1 Holoprosencephalies MONDO_0016296 "Disgenet " 11776 TGIF1 "HOLOPROSENCEPHALY 4" MONDO_0007734 "Disgenet " 11777 TGM1 Chloracne "Disgenet " 11777 TGM1 "Harlequin fetus" MONDO_0017778 "Disgenet " 11777 TGM1 Ichthyosis MONDO_0015947 "Disgenet " 11777 TGM1 "Ichthyosis, Lamellar" MONDO_0011485 "Disgenet " 11777 TGM1 "Congenital Ichthyosiform Erythrodermas" "Disgenet " 11777 TGM1 Ichthyoses MONDO_0019269 "Disgenet " 11777 TGM1 "Bathing suit ichthyosis (disorder)" MONDO_0015085 "Disgenet " 11777 TGM1 "Self-Healing Collodion Baby" MONDO_0017267 "Disgenet " 11777 TGM1 "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1" MONDO_0009441 "Disgenet " 11778 TGM2 CRC MONDO_0005335 "Disgenet " 11778 TGM2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 11778 TGM2 Schizophrenias MONDO_0005090 "Disgenet " 11778 TGM2 "Brain Neoplasms" MONDO_0021211 "Disgenet " 11778 TGM2 "High blood pressure" MONDO_0005044 "Disgenet " 11778 TGM2 Glioblastoma MONDO_0018177 "Disgenet " 11778 TGM2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 11778 TGM2 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 11778 TGM2 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 11778 TGM2 "Celiac Disease" MONDO_0005130 "Disgenet " 11782 TH "Parkinson Disease" MONDO_0014796 "Disgenet " 11782 TH Delirium MONDO_0045057 "Disgenet " 11782 TH Encephalopathy MONDO_0005560 "Disgenet " 11782 TH "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 11782 TH Alcoholism MONDO_0002046 "Disgenet " 11782 TH Obesity MONDO_0019182 "Disgenet " 11782 TH "Depressions, Unipolar" MONDO_0002050 "Disgenet " 11782 TH "tyrosine hydroxylase deficiency" MONDO:0100064 "ClinGen " 11782 TH "Lewy Body Disease" MONDO_0007488 "Disgenet " 11782 TH "Essential hypertension" MONDO_0007781 "Disgenet " 11782 TH "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11782 TH Depression MONDO_0002050 "Disgenet " 11782 TH "High blood pressure" MONDO_0005044 "Disgenet " 11782 TH Parkinsonism MONDO_0021095 "Disgenet " 11782 TH Dystonia MONDO_0003441 "Disgenet " 11782 TH Pheochromocytoma MONDO_0008233 "Disgenet " 11782 TH "SEGAWA SYNDROME, AUTOSOMAL RECESSIVE" MONDO_0100064 "Disgenet " 11782 TH "Bipolar Disorders" MONDO_0004985 "Disgenet " 11782 TH "Affective Disorders" MONDO_0005371 "Disgenet " 11782 TH Neuroblastoma MONDO_0005072 "Disgenet " 11782 TH "Depressive neurosis" MONDO_0002050 "Disgenet " 11784 THBD "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 11784 THBD "Diseases, Liver" MONDO_0005154 "Disgenet " 11784 THBD "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 11784 THBD "atypical hemolytic-uremic syndrome" MONDO:0016244 "ClinGen " 11784 THBD "thrombomodulin-related bleeding disorder" MONDO:0013775 "ClinGen " 11784 THBD "thrombomodulin-related bleeding disorder" MONDO:0013775 "ClinGen " 11784 THBD Thrombophilia MONDO_0002305 "Disgenet " 11784 THBD "Non-Shiga-Like Toxin-Associated HUSs" MONDO_0016244 "Disgenet " 11784 THBD "Acute kidney injury" MONDO_0002492 "Disgenet " 11784 THBD "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 11784 THBD "Purpura, Thrombotic Thrombocytopenic" MONDO_0018896 "Disgenet " 11784 THBD "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 11784 THBD Asthma MONDO_0004979 "Disgenet " 11784 THBD THPH12 MONDO_0013775 "Disgenet " 11784 THBD "Respiratory Distress Syndrome, Adult" MONDO_0100130 "Disgenet " 11784 THBD "Cerebral Infarction" MONDO_0002679 "Disgenet " 11784 THBD "Coagulations, Disseminated Intravascular" MONDO_0001243 "Disgenet " 11784 THBD "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 11784 THBD Nephropathy MONDO_0005240 "Disgenet " 11785 THBS1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 11785 THBS1 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 11785 THBS1 Cholangiocarcinoma MONDO_0019087 "Disgenet " 11785 THBS1 "Angiopathies, Diabetic" MONDO_0000960 "Disgenet " 11785 THBS1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 11785 THBS1 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 11786 THBS2 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 11795 THPO "thrombocythemia 1" MONDO:0008554 "ClinGen " 11795 THPO "congenital amegakaryocytic thrombocytopenia" MONDO:0800451 "ClinGen " 11795 THPO "AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL" MONDO_0800451 "Disgenet " 11795 THPO Thrombocytopenia MONDO_0002049 "Disgenet " 11795 THPO Thrombocytoses MONDO_0002249 "Disgenet " 11795 THPO "Familial thrombocythaemia" MONDO_0019111 "Disgenet " 11795 THPO "Idiopathic thrombocythemia" MONDO_0005029 "Disgenet " 11795 THPO "Aplastic anemia" MONDO_0015909 "Disgenet " 11796 THRA CHNG6 MONDO_0013757 "Disgenet " 11796 THRA "Renal cell carcinoma" MONDO_0005549 "Disgenet " 11796 THRA "Resistance to thyroid hormone due to a mutation in TRa" MONDO_0034216 "Disgenet " 11796 THRA "Congenital hypothyroidism" MONDO_0010142 "Disgenet " 11799 THRB RTSH MONDO_0001328 "Disgenet " 11799 THRB "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 11799 THRB "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11799 THRB "Renal cell carcinoma" MONDO_0005549 "Disgenet " 11799 THRB "Atrial Fibrillation" MONDO_0004981 "Disgenet " 11799 THRB "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 11799 THRB "Adenocarcinoma, Follicular" MONDO_0005034 "Disgenet " 11799 THRB "Refetoff DeWind DeGroot Syndrome" MONDO_0001328 "Disgenet " 11799 THRB PRTH MONDO_0007784 "Disgenet " 118 ACO2 ICRD MONDO_0013802 "Disgenet " 118 ACO2 "optic atrophy 9" MONDO:0014571 "ClinGen " 118 ACO2 "mitochondrial disease" MONDO:0044970 "ClinGen " 118 ACO2 "mitochondrial disease" MONDO:0044970 "ClinGen " 118 ACO2 "OPTIC ATROPHY 9" MONDO_0014571 "Disgenet " 118 ACO2 "Cancer, Breast" MONDO_0007254 "Disgenet " 118 ACO2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11801 THY1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11802 TIA1 "amyotrophic lateral sclerosis 26 with or without frontotemporal dementia" MONDO:0030885 "ClinGen " 11802 TIA1 WDM MONDO_0011466 "Disgenet " 11802 TIA1 "AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA" MONDO_0030885 "Disgenet " 11805 TIAM1 CRC MONDO_0005335 "Disgenet " 11805 TIAM1 NEDLDS MONDO_0859256 "Disgenet " 1181 MYRF "Urogenital Abnormalities" "Disgenet " 1181 MYRF "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 1181 MYRF Farsightedness MONDO_0004891 "Disgenet " 1181 MYRF "Primary angle-closure glaucoma" MONDO_0001868 "Disgenet " 1181 MYRF Nanophthalmia MONDO_0005514 "Disgenet " 1181 MYRF CUGS MONDO_0032653 "Disgenet " 1181 MYRF "Scimitar Syndrome" MONDO_0015987 "Disgenet " 1181 MYRF "Congenital diaphragmatic hernia" MONDO_0007719 "Disgenet " 1181 MYRF NNO1 MONDO_0005514 "Disgenet " 11810 KLF10 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 11811 KLF11 "monogenic diabetes" MONDO:0015967 "ClinGen " 11811 KLF11 MODY7 MONDO_0012513 "Disgenet " 11811 KLF11 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 11811 KLF11 "Maturity onset diabetes mellitus in young" MONDO_0018911 "Disgenet " 11811 KLF11 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 11811 KLF11 Alcoholism MONDO_0002046 "Disgenet " 11812 TRIM24 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11812 TRIM24 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 11812 TRIM24 "Neoplasm, Castration-Resistant Prostatic" MONDO_0850353 "Disgenet " 11812 TRIM24 "Prostatic Cancers, Androgen-Independent" MONDO_0850353 "Disgenet " 11813 TIMELESS "Bipolar Disorders" MONDO_0004985 "Disgenet " 11813 TIMELESS "Cancer, Breast" MONDO_0007254 "Disgenet " 11813 TIMELESS "Affective Disorders" MONDO_0005371 "Disgenet " 11813 TIMELESS Depression MONDO_0002050 "Disgenet " 11813 TIMELESS "Depressive neurosis" MONDO_0002050 "Disgenet " 11817 TIMM8A Dystonia MONDO_0003441 "Disgenet " 11817 TIMM8A "deafness dystonia syndrome" MONDO:0010578 "ClinGen " 11817 TIMM8A "MOHR-TRANEBJAERG SYNDROME" MONDO_0010578 "Disgenet " 11820 TIMP1 "Respiratory Distress Syndrome, Adult" MONDO_0100130 "Disgenet " 11820 TIMP1 "Bergers Disease" MONDO_0005342 "Disgenet " 11820 TIMP1 "Diseases, Vascular" MONDO_0005385 "Disgenet " 11820 TIMP1 "High blood pressure" MONDO_0005044 "Disgenet " 11820 TIMP1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 11820 TIMP1 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 11820 TIMP1 "Cardiac Disease" MONDO_0005267 "Disgenet " 11821 TIMP2 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 11821 TIMP2 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 11821 TIMP2 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 11821 TIMP2 "Moyamoya Disease" MONDO_0016820 "Disgenet " 11822 TIMP3 Asthma MONDO_0004979 "Disgenet " 11822 TIMP3 SFD MONDO_0007640 "Disgenet " 11822 TIMP3 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 11822 TIMP3 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 11822 TIMP3 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 11822 TIMP3 Colitides MONDO_0005534 "Disgenet " 11822 TIMP3 "Degeneration, Macular" MONDO_0003004 "Disgenet " 11822 TIMP3 "Sorsby fundus dystrophy" MONDO:0007640 "ClinGen " 11822 TIMP3 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 11823 TIMP4 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11825 NKX2-1 "Diseases, Lung" MONDO_0005275 "Disgenet " 11825 NKX2-1 "NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction" MONDO:0100520 "ClinGen " 11825 NKX2-1 BHC MONDO_0001595 "Disgenet " 11825 NKX2-1 "Brain-Lung-Thyroid Syndrome" MONDO_0012593 "Disgenet " 11825 NKX2-1 Chorea MONDO_0001595 "Disgenet " 11825 NKX2-1 "Well Differentiated Thyroid Carcinoma" MONDO_0015447 "Disgenet " 11825 NKX2-1 "Papillary Thyroid Carcinoma" MONDO_0005075 "Disgenet " 11827 TJP1 "arrhythmogenic right ventricular cardiomyopathy" MONDO:0016587 "ClinGen " 11828 TJP2 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 11828 TJP2 "Cholestasis, progressive familial intrahepatic 4" MONDO_0014381 "Disgenet " 11828 TJP2 Hypoacusis MONDO_0005365 "Disgenet " 11828 TJP2 "Hypercholanemia, Familial" MONDO_0100327 "Disgenet " 11830 TK1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11830 TK1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11830 TK1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 11831 TK2 "mitochondrial dna depletion" MONDO_0018158 "Disgenet " 11831 TK2 PEOB3 MONDO_0014898 "Disgenet " 11831 TK2 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 11831 TK2 "mitochondrial disease" MONDO:0044970 "ClinGen " 11831 TK2 Myopathy MONDO_0003939 "Disgenet " 11831 TK2 "Mitochondrial Myopathies" MONDO_0009637 "Disgenet " 11834 TKT "Wernicke Encephalopathy" MONDO_0007020 "Disgenet " 11834 TKT Alcoholism MONDO_0002046 "Disgenet " 11834 TKT SDDHD MONDO_0014881 "Disgenet " 11839 TLE3 "Breast Neoplasms" MONDO_0021100 "Disgenet " 1184 FERRY3 MRT66 MONDO_0032605 "Disgenet " 1184 FERRY3 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11841 TLK1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 11847 TLR1 Asthma MONDO_0004979 "Disgenet " 11847 TLR1 Leprosy MONDO_0005124 "Disgenet " 11847 TLR1 Aspergilloses MONDO_0005657 "Disgenet " 11847 TLR1 "Bergers Disease" MONDO_0005342 "Disgenet " 11847 TLR1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 11848 TLR2 "cardiac toxicity" "Disgenet " 11848 TLR2 "Essential hypertension" MONDO_0007781 "Disgenet " 11848 TLR2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 11848 TLR2 "Meningococcal meningitis" MONDO_0018059 "Disgenet " 11848 TLR2 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 11848 TLR2 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 11848 TLR2 "Staphylococcal infection" MONDO_0024313 "Disgenet " 11848 TLR2 Schizophrenias MONDO_0005090 "Disgenet " 11848 TLR2 "Heart failure" MONDO_0005252 "Disgenet " 11848 TLR2 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 11848 TLR2 "Diseases, Lung" MONDO_0005275 "Disgenet " 11848 TLR2 "Congestive heart failure" MONDO_0005252 "Disgenet " 11848 TLR2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11848 TLR2 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 11848 TLR2 "Acute kidney injury" MONDO_0002492 "Disgenet " 11848 TLR2 Keratitides MONDO_0003085 "Disgenet " 11848 TLR2 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 11848 TLR2 "Brain Injuries" MONDO_0043510 "Disgenet " 11848 TLR2 "Behcet Syndrome" MONDO_0007191 "Disgenet " 11848 TLR2 Leprosy MONDO_0005124 "Disgenet " 11848 TLR2 "Atopic Eczema" MONDO_0011292 "Disgenet " 11848 TLR2 "Cancer, Breast" MONDO_0007254 "Disgenet " 11848 TLR2 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 11848 TLR2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11848 TLR2 Acne MONDO_0011438 "Disgenet " 11848 TLR2 Asthma MONDO_0004979 "Disgenet " 11848 TLR2 "Urinary tract infection" MONDO_0100338 "Disgenet " 11848 TLR2 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 11848 TLR2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11848 TLR2 "Tuberculosis, Pulmonary" MONDO_0957462 "Disgenet " 11849 TLR3 "Hepatitis C" MONDO_0005231 "Disgenet " 11849 TLR3 Schizophrenias MONDO_0005090 "Disgenet " 11849 TLR3 "HIV infection" MONDO_0005109 "Disgenet " 11849 TLR3 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 11849 TLR3 Asthma MONDO_0004979 "Disgenet " 11849 TLR3 "Hepatitis B" MONDO_0005344 "Disgenet " 11849 TLR3 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 11849 TLR3 "Herpes encephalitis" MONDO_0012521 "Disgenet " 11850 TLR4 Sepsis MONDO_0005229 "Disgenet " 11850 TLR4 "Enterocolitis, Necrotizing" MONDO_0004639 "Disgenet " 11850 TLR4 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 11850 TLR4 Asthma MONDO_0004979 "Disgenet " 11850 TLR4 "Acute kidney injury" MONDO_0002492 "Disgenet " 11850 TLR4 "Urinary tract infection" MONDO_0100338 "Disgenet " 11850 TLR4 Atherosclerosis MONDO_0005311 "Disgenet " 11850 TLR4 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11850 TLR4 Pneumonia MONDO_0005249 "Disgenet " 11850 TLR4 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 11850 TLR4 "Alzheimer Disease" MONDO_0012630 "Disgenet " 11850 TLR4 Melanoma MONDO_0005105 "Disgenet " 11850 TLR4 "Behcet Syndrome" MONDO_0007191 "Disgenet " 11850 TLR4 Vitiligo MONDO_0008661 "Disgenet " 11850 TLR4 "invasive aspergillosis" MONDO_0000240 "Disgenet " 11850 TLR4 "Meningococcal meningitis" MONDO_0018059 "Disgenet " 11850 TLR4 "Abuse, Alcohol" MONDO_0002046 "Disgenet " 11850 TLR4 "Fatty Liver, Alcoholic" MONDO_0021104 "Disgenet " 11850 TLR4 "Disease, Periodic" MONDO_0018088 "Disgenet " 11850 TLR4 "Normal tension glaucoma" MONDO_0006837 "Disgenet " 11850 TLR4 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 11850 TLR4 "High blood pressure" MONDO_0005044 "Disgenet " 11850 TLR4 Schizophrenias MONDO_0005090 "Disgenet " 11850 TLR4 "Primary open-angle glaucoma" MONDO_0100553 "Disgenet " 11850 TLR4 "Fatty Liver" MONDO_0004790 "Disgenet " 11850 TLR4 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 11850 TLR4 "Tuberculosis, Pulmonary" MONDO_0957462 "Disgenet " 11850 TLR4 "lung injury" "Disgenet " 11850 TLR4 "Bipolar Disorders" MONDO_0004985 "Disgenet " 11850 TLR4 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11850 TLR4 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 11850 TLR4 Arthritides MONDO_0005578 "Disgenet " 11850 TLR4 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 11850 TLR4 "Lung Neoplasm" MONDO_0002732 "Disgenet " 11850 TLR4 Carcinoma MONDO_0004993 "Disgenet " 11850 TLR4 "adenocarcinoma of esophagus (diagnosis)" MONDO_0005028 "Disgenet " 11850 TLR4 "Stable Angina" "Disgenet " 11850 TLR4 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 11850 TLR4 "KIDNEY FAILURE" MONDO_0001106 "Disgenet " 11850 TLR4 "Coronary Disease" MONDO_0005010 "Disgenet " 11850 TLR4 "Respiratory Syncytial Virus Infections" MONDO_0001577 "Disgenet " 11850 TLR4 "Arteritides, Giant Cell" MONDO_0008538 "Disgenet " 11850 TLR4 Keratitides MONDO_0003085 "Disgenet " 11850 TLR4 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11850 TLR4 "Acute Coronary Syndrome" MONDO_0005542 "Disgenet " 11850 TLR4 "Atopic Eczema" MONDO_0011292 "Disgenet " 11850 TLR4 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 11850 TLR4 COPD MONDO_0005002 "Disgenet " 11850 TLR4 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 11850 TLR4 "Brain Injuries" MONDO_0043510 "Disgenet " 11850 TLR4 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 11850 TLR4 "Cancer, Breast" MONDO_0007254 "Disgenet " 11850 TLR4 "Diabetic Neuropathies" MONDO_0006626 "Disgenet " 11851 TLR5 "Legionnaire's disease" MONDO_0005823 "Disgenet " 11851 TLR5 "Cystic Fibrosis" MONDO_0009061 "Disgenet " 11851 TLR5 Melioidoses MONDO_0017775 "Disgenet " 11851 TLR5 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 11851 TLR5 "systemic lupus erythematosus, susceptibility to, 1" MONDO:0011138 "ClinGen " 11851 TLR5 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11854 TSPAN7 MRX58 MONDO_0010266 "Disgenet " 11854 TSPAN7 "non-syndromic X-linked intellectual disability" MONDO:0019181 "ClinGen " 11854 TSPAN7 MRX1 MONDO_0010656 "Disgenet " 11854 TSPAN7 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11855 TSPAN8 "Bipolar Disorders" MONDO_0004985 "Disgenet " 11861 TM6SF2 "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 11861 TM6SF2 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 11861 TM6SF2 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 11861 TM6SF2 "Alcoholic Liver Cirrhosis" MONDO_0006644 "Disgenet " 11867 TMEFF2 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 11867 TMEFF2 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 11867 TMEFF2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11867 TMEFF2 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 11868 TRAPPC10 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11870 TMF1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11871 TMOD1 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 11875 TMPO "obsolete familial isolated dilated cardiomyopathy" MONDO:0015470 "ClinGen " 11875 TMPO "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 11875 TMPO "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 11877 TMPRSS3 "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 11877 TMPRSS3 DFNB8 MONDO_0010987 "Disgenet " 11877 TMPRSS3 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 11877 TMPRSS3 Hypoacusis MONDO_0005365 "Disgenet " 11877 TMPRSS3 "DEAFNESS, AUTOSOMAL RECESSIVE" MONDO_0019588 "Disgenet " 11891 CLEC3B "MACULAR DYSTROPHY, RETINAL, 4" MONDO_0859568 "Disgenet " 11892 TNF "Kala Azar" MONDO_0005445 "Disgenet " 11892 TNF "Cerebral Infarction" MONDO_0002679 "Disgenet " 11892 TNF "Cystic Fibrosis" MONDO_0009061 "Disgenet " 11892 TNF "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 11892 TNF "Acute Lung Injury" MONDO_0015796 "Disgenet " 11892 TNF "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 11892 TNF "Sjogren's Syndrome" MONDO_0010030 "Disgenet " 11892 TNF "MIGRAINE HEADACHE" MONDO_0005277 "Disgenet " 11892 TNF "Diseases, Lung" MONDO_0005275 "Disgenet " 11892 TNF "Anemia, Sickle Cell" MONDO_0011382 "Disgenet " 11892 TNF "Acute kidney injury" MONDO_0002492 "Disgenet " 11892 TNF "Fibrosing alveolitis" MONDO_0800029 "Disgenet " 11892 TNF "Hemorrhages, Subarachnoid" MONDO_0005099 "Disgenet " 11892 TNF Silicoses MONDO_0005960 "Disgenet " 11892 TNF Dermatitides MONDO_0002406 "Disgenet " 11892 TNF "Fanconi Anemia" MONDO_0019391 "Disgenet " 11892 TNF "Brain Injuries" MONDO_0043510 "Disgenet " 11892 TNF "Liver Failure, Acute" MONDO_0019542 "Disgenet " 11892 TNF "Dementia, Vascular" MONDO_0004648 "Disgenet " 11892 TNF Uveitides MONDO_0020283 "Disgenet " 11892 TNF "Cancer, Breast" MONDO_0007254 "Disgenet " 11892 TNF "Congestive heart failure" MONDO_0005252 "Disgenet " 11892 TNF "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 11892 TNF "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 11892 TNF Gliomas MONDO_0021042 "Disgenet " 11892 TNF "Behcet Syndrome" MONDO_0007191 "Disgenet " 11892 TNF "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 11892 TNF Endometrioses MONDO_0005133 "Disgenet " 11892 TNF "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 11892 TNF Anemia MONDO_0002280 "Disgenet " 11892 TNF "Atopic Eczema" MONDO_0011292 "Disgenet " 11892 TNF "Cerebrovascular accident" MONDO_0005098 "Disgenet " 11892 TNF "Obstructive sleep apnea syndrome" MONDO_0007147 "Disgenet " 11892 TNF "Coronary Disease" MONDO_0005010 "Disgenet " 11892 TNF Dermatomyositis MONDO_0016367 "Disgenet " 11892 TNF Retinopathy MONDO_0005283 "Disgenet " 11892 TNF "Liver Neoplasm" MONDO_0002691 "Disgenet " 11892 TNF Glomerulonephritides MONDO_0002462 "Disgenet " 11892 TNF Vitiligo MONDO_0008661 "Disgenet " 11892 TNF Hyperinsulinism MONDO_0002177 "Disgenet " 11892 TNF "Renal cell carcinoma" MONDO_0005549 "Disgenet " 11892 TNF "Tuberculosis, Pulmonary" MONDO_0957462 "Disgenet " 11892 TNF "Damage, Reperfusion" MONDO_0005203 "Disgenet " 11892 TNF "Fatty Liver" MONDO_0004790 "Disgenet " 11892 TNF "Hepatitis B" MONDO_0005344 "Disgenet " 11892 TNF "Bipolar Disorders" MONDO_0004985 "Disgenet " 11892 TNF "Anxiety Disorder" MONDO_0005618 "Disgenet " 11892 TNF "lung injury" "Disgenet " 11892 TNF "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 11892 TNF "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 11892 TNF "Cervical Neoplasm" MONDO_0021230 "Disgenet " 11892 TNF Pneumonia MONDO_0005249 "Disgenet " 11892 TNF "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 11892 TNF Colitides MONDO_0005534 "Disgenet " 11892 TNF "Lung Neoplasm" MONDO_0002732 "Disgenet " 11892 TNF "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 11892 TNF "Parkinson Disease" MONDO_0014796 "Disgenet " 11892 TNF "Multiple Myeloma" MONDO_0009693 "Disgenet " 11892 TNF "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 11892 TNF Obesity MONDO_0019182 "Disgenet " 11892 TNF "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 11892 TNF "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 11892 TNF Psoriases MONDO_0005083 "Disgenet " 11892 TNF Sepsis MONDO_0005229 "Disgenet " 11892 TNF "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 11892 TNF "Alzheimer Disease" MONDO_0012630 "Disgenet " 11892 TNF "Multiple Sclerosis" MONDO_0005301 "Disgenet " 11892 TNF Asthma MONDO_0004979 "Disgenet " 11892 TNF "Skin Disease" MONDO_0005093 "Disgenet " 11892 TNF "Ulcerative colitis" MONDO_0005101 "Disgenet " 11892 TNF "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11892 TNF "Breast Neoplasms" MONDO_0021100 "Disgenet " 11892 TNF Melanoma MONDO_0005105 "Disgenet " 11892 TNF "Depressive neurosis" MONDO_0002050 "Disgenet " 11892 TNF Depression MONDO_0002050 "Disgenet " 11892 TNF "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 11892 TNF "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11892 TNF "Infection, Plasmodium" MONDO_0005136 "Disgenet " 11892 TNF "Diseases, Liver" MONDO_0005154 "Disgenet " 11892 TNF "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 11892 TNF "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 11892 TNF Schizophrenias MONDO_0005090 "Disgenet " 11892 TNF "High blood pressure" MONDO_0005044 "Disgenet " 11892 TNF "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 11892 TNF "Arthritic Psoriasis" MONDO_0011849 "Disgenet " 11892 TNF "Heart failure" MONDO_0005252 "Disgenet " 11892 TNF Atherosclerosis MONDO_0005311 "Disgenet " 11892 TNF "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11892 TNF COPD MONDO_0005002 "Disgenet " 11892 TNF "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 11892 TNF "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 11896 TNFAIP3 "AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 1" MONDO_0031384 "Disgenet " 11896 TNFAIP3 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11896 TNFAIP3 "Brill Symmers Disease" MONDO_0018906 "Disgenet " 11896 TNFAIP3 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 11896 TNFAIP3 "Cancer, Breast" MONDO_0007254 "Disgenet " 11896 TNFAIP3 "Sjogren's Syndrome" MONDO_0010030 "Disgenet " 11896 TNFAIP3 Psoriases MONDO_0005083 "Disgenet " 11896 TNFAIP3 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 11896 TNFAIP3 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 11898 TNFAIP6 "Acute Lung Injury" MONDO_0015796 "Disgenet " 119 ACOX1 "MITCHELL SYNDROME" MONDO_0030073 "Disgenet " 119 ACOX1 "PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY" MONDO_0009919 "Disgenet " 119 ACOX1 "peroxisomal acyl-CoA oxidase deficiency" MONDO:0009919 "ClinGen " 119 ACOX1 "Mitchell syndrome" MONDO:0030073 "ClinGen " 119 ACOX1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11904 TNFRSF10A "Centrocytic Small-Cell Lymphoma" MONDO_0018876 "Disgenet " 11904 TNFRSF10A "Renal cell carcinoma" MONDO_0005549 "Disgenet " 11904 TNFRSF10A "Malignant neoplasm of cervix uteri" MONDO_0002974 "Disgenet " 11904 TNFRSF10A "Cervical Neoplasm" MONDO_0021230 "Disgenet " 11904 TNFRSF10A "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 11904 TNFRSF10A "adenocarcinoma of esophagus (diagnosis)" MONDO_0005028 "Disgenet " 11904 TNFRSF10A "Multiple Myeloma" MONDO_0009693 "Disgenet " 11904 TNFRSF10A "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 11904 TNFRSF10A "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 11904 TNFRSF10A "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11905 TNFRSF10B "malignant squamous cell neoplasm of oral cavity (diagnosis)" MONDO_0004958 "Disgenet " 11905 TNFRSF10B "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 11908 TNFRSF11A Osteoporoses MONDO_0005298 "Disgenet " 11908 TNFRSF11A "PAGET'S BONE DISEASE" MONDO_0005382 "Disgenet " 11908 TNFRSF11A HEPOD MONDO_0008275 "Disgenet " 11908 TNFRSF11A DYSOSTEOSCLEROSIS MONDO_0009138 "Disgenet " 11908 TNFRSF11A Osteoscleroses MONDO_0002933 "Disgenet " 11908 TNFRSF11A "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 11908 TNFRSF11A OPTB7 MONDO_0012859 "Disgenet " 11908 TNFRSF11A "Albers Schoenberg Disease" MONDO_0012859 "Disgenet " 11909 TNFRSF11B "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 11909 TNFRSF11B "PAGET'S BONE DISEASE" MONDO_0005382 "Disgenet " 11909 TNFRSF11B "Artery Stenoses, Carotid" MONDO_0001612 "Disgenet " 11909 TNFRSF11B JPD MONDO_0009394 "Disgenet " 11909 TNFRSF11B Hypercalcemia MONDO_0001566 "Disgenet " 11909 TNFRSF11B Osteoporoses MONDO_0005298 "Disgenet " 11912 TNFRSF14 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 11916 TNFRSF1A "Bergers Disease" MONDO_0005342 "Disgenet " 11916 TNFRSF1A Anorexia "Disgenet " 11916 TNFRSF1A Schizophrenias MONDO_0005090 "Disgenet " 11916 TNFRSF1A "Cystic Fibrosis" MONDO_0009061 "Disgenet " 11916 TNFRSF1A "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 11916 TNFRSF1A "Congestive heart failure" MONDO_0005252 "Disgenet " 11916 TNFRSF1A "Autoinflammatory disease" MONDO_0019751 "Disgenet " 11916 TNFRSF1A "lung injury" "Disgenet " 11916 TNFRSF1A "Depressive neurosis" MONDO_0002050 "Disgenet " 11916 TNFRSF1A Depression MONDO_0002050 "Disgenet " 11916 TNFRSF1A "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 11916 TNFRSF1A "Heart failure" MONDO_0005252 "Disgenet " 11916 TNFRSF1A "Behcet Syndrome" MONDO_0007191 "Disgenet " 11916 TNFRSF1A Pneumonia MONDO_0005249 "Disgenet " 11916 TNFRSF1A "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 11916 TNFRSF1A "Multiple Sclerosis" MONDO_0005301 "Disgenet " 11916 TNFRSF1A "TNF receptor-associated periodic fever syndrome (disorder)" MONDO_0007727 "Disgenet " 11916 TNFRSF1A "TNF receptor 1-associated periodic fever syndrome" MONDO:0007727 "ClinGen " 11916 TNFRSF1A Uveitides MONDO_0020283 "Disgenet " 11917 TNFRSF1B "Heart failure" MONDO_0005252 "Disgenet " 11917 TNFRSF1B "Depressive neurosis" MONDO_0002050 "Disgenet " 11917 TNFRSF1B "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 11917 TNFRSF1B Schizophrenias MONDO_0005090 "Disgenet " 11917 TNFRSF1B Depression MONDO_0002050 "Disgenet " 11917 TNFRSF1B Obesity MONDO_0019182 "Disgenet " 11917 TNFRSF1B Osteoporoses MONDO_0005298 "Disgenet " 11917 TNFRSF1B Endometrioses MONDO_0005133 "Disgenet " 11917 TNFRSF1B "Ankylosing spondylitis" MONDO_0005306 "Disgenet " 11917 TNFRSF1B "Congestive heart failure" MONDO_0005252 "Disgenet " 11917 TNFRSF1B "Respiratory Distress Syndrome, Adult" MONDO_0100130 "Disgenet " 11917 TNFRSF1B "Bergers Disease" MONDO_0005342 "Disgenet " 11918 TNFRSF4 "Viral illness" MONDO_0005108 "Disgenet " 11918 TNFRSF4 "IMMUNODEFICIENCY 16" MONDO_0014268 "Disgenet " 11918 TNFRSF4 "combined immunodeficiency due to OX40 deficiency" MONDO:0014268 "ClinGen " 11919 CD40 "hyper-IgM syndrome type 3" MONDO:0011735 "ClinGen " 11919 CD40 "GRAVES DISEASE" MONDO_0005364 "Disgenet " 11919 CD40 Psoriases MONDO_0005083 "Disgenet " 11919 CD40 "B Cell Lymphoma" MONDO_0015759 "Disgenet " 11919 CD40 Arthritides MONDO_0005578 "Disgenet " 11919 CD40 Asthma MONDO_0004979 "Disgenet " 11919 CD40 "Hodgkin's granuloma" MONDO_0004952 "Disgenet " 11919 CD40 "Burkitt Lymphoma" MONDO_0007243 "Disgenet " 11919 CD40 "Brill Symmers Disease" MONDO_0018906 "Disgenet " 11919 CD40 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 11919 CD40 "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 11919 CD40 Hyperglycemia MONDO_0002909 "Disgenet " 11919 CD40 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 11919 CD40 "Multiple Myeloma" MONDO_0009693 "Disgenet " 11919 CD40 "Kawasaki's disease" MONDO_0012727 "Disgenet " 11919 CD40 "Breast Neoplasms" MONDO_0021100 "Disgenet " 11919 CD40 Melanoma MONDO_0005105 "Disgenet " 11919 CD40 "Hyper IgM Immunodeficiency Syndrome" MONDO_0003947 "Disgenet " 11919 CD40 Obesity MONDO_0019182 "Disgenet " 11919 CD40 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 11919 CD40 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 11919 CD40 "HIGM3 Syndromes" MONDO_0003947 "Disgenet " 11919 CD40 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 11920 FAS "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 11920 FAS "AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME" MONDO_0011158 "Disgenet " 11920 FAS "Multiple Sclerosis" MONDO_0005301 "Disgenet " 11920 FAS "HIV infection" MONDO_0005109 "Disgenet " 11920 FAS "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 11920 FAS "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 11920 FAS "Acute Lung Injury" MONDO_0015796 "Disgenet " 11920 FAS Hypersplenism MONDO_0006795 "Disgenet " 11920 FAS "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 11920 FAS Nephritides MONDO_0001166 "Disgenet " 11920 FAS "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 11920 FAS "Cutaneous T Cell Lymphoma" MONDO_0015758 "Disgenet " 11920 FAS "MS RELAPSING REMITTING" MONDO_0005314 "Disgenet " 11920 FAS "Glomerulonephritides, Lupus" MONDO_0005556 "Disgenet " 11920 FAS "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 11920 FAS "Alzheimer Disease" MONDO_0012630 "Disgenet " 11920 FAS "human T cell leukemia" MONDO_0019471 "Disgenet " 11920 FAS Glomerulonephritides MONDO_0002462 "Disgenet " 11920 FAS "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 11920 FAS "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 11920 FAS "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 11920 FAS "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 11920 FAS "Lung Neoplasm" MONDO_0002732 "Disgenet " 11920 FAS "Cancer, Breast" MONDO_0007254 "Disgenet " 11920 FAS Melanoma MONDO_0005105 "Disgenet " 11920 FAS "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 11920 FAS ALPS1A "Disgenet " 11920 FAS "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 11920 FAS "Myasthenia Gravis" MONDO_0009688 "Disgenet " 11920 FAS "Liver Failure, Acute" MONDO_0019542 "Disgenet " 11920 FAS "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 11920 FAS "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11920 FAS "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 11920 FAS "Renal cell carcinoma" MONDO_0005549 "Disgenet " 11920 FAS Schizophrenias MONDO_0005090 "Disgenet " 11920 FAS "Behcet Syndrome" MONDO_0007191 "Disgenet " 11920 FAS "Cystic Fibrosis" MONDO_0009061 "Disgenet " 11922 CD27 "Deficiency Syndrome, Immunological" MONDO_0021094 "Disgenet " 11922 CD27 "LYMPHOPROLIFERATIVE SYNDROME 2" MONDO_0014054 "Disgenet " 11922 CD27 "Disorder, Lymphoproliferative" MONDO_0011804 "Disgenet " 11923 TNFRSF8 "Hashimoto's disease" MONDO_0007699 "Disgenet " 11923 TNFRSF8 "HIV infection" MONDO_0005109 "Disgenet " 11923 TNFRSF8 "GRAVES DISEASE" MONDO_0005364 "Disgenet " 11923 TNFRSF8 "Ki 1 Lymphoma" MONDO_0020325 "Disgenet " 11923 TNFRSF8 "Hodgkin's granuloma" MONDO_0004952 "Disgenet " 11923 TNFRSF8 "Carcinoma, Embryonal" MONDO_0005440 "Disgenet " 11923 TNFRSF8 "Disease, Graft-Versus-Host" MONDO_0013730 "Disgenet " 11924 TNFRSF9 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 11924 TNFRSF9 "immunodeficiency 109 with lymphoproliferation" MONDO:0859526 "ClinGen " 11924 TNFRSF9 CRC MONDO_0005335 "Disgenet " 11924 TNFRSF9 "Viral illness" MONDO_0005108 "Disgenet " 11925 TNFSF10 Glioblastoma MONDO_0018177 "Disgenet " 11925 TNFSF10 "Glioma, malignant" MONDO_0100342 "Disgenet " 11925 TNFSF10 Neuroblastoma MONDO_0005072 "Disgenet " 11925 TNFSF10 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11925 TNFSF10 "Breast Neoplasms" MONDO_0021100 "Disgenet " 11925 TNFSF10 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11925 TNFSF10 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 11925 TNFSF10 Gliomas MONDO_0021042 "Disgenet " 11925 TNFSF10 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 11925 TNFSF10 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 11925 TNFSF10 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 11925 TNFSF10 "Liver Neoplasm" MONDO_0002691 "Disgenet " 11925 TNFSF10 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 11925 TNFSF10 Flu MONDO_0005812 "Disgenet " 11925 TNFSF10 "Kidney Neoplasm" MONDO_0002367 "Disgenet " 11925 TNFSF10 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 11925 TNFSF10 Leukemias MONDO_0005059 "Disgenet " 11925 TNFSF10 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11925 TNFSF10 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 11926 TNFSF11 "Alveolar Bone Loss" "Disgenet " 11926 TNFSF11 "Albers Schoenberg Disease" MONDO_0012859 "Disgenet " 11926 TNFSF11 OPTB2 MONDO_0009816 "Disgenet " 11926 TNFSF11 "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 11926 TNFSF11 "autosomal recessive osteopetrosis 2" MONDO:0009816 "ClinGen " 11926 TNFSF11 Hypercalcemia MONDO_0001566 "Disgenet " 11926 TNFSF11 Osteoscleroses MONDO_0002933 "Disgenet " 11926 TNFSF11 "Chronic periodontitis" MONDO_0009850 "Disgenet " 11926 TNFSF11 Osteoporoses MONDO_0005298 "Disgenet " 11927 TNFSF12 "common variable immunodeficiency" MONDO:0015517 "ClinGen " 11927 TNFSF12 "Common Variable Immunodeficiency" MONDO_0015517 "Disgenet " 11927 TNFSF12 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 11928 TNFSF13 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11928 TNFSF13 "Common Variable Immunodeficiency" MONDO_0015517 "Disgenet " 11928 TNFSF13 "common variable immunodeficiency" MONDO:0015517 "ClinGen " 11928 TNFSF13 "Bergers Disease" MONDO_0005342 "Disgenet " 11929 TNFSF13B "Affective Disorders" MONDO_0005371 "Disgenet " 11930 TNFSF14 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 11930 TNFSF14 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 11931 TNFSF15 "primary biliary cirrhosis" MONDO_0005388 "Disgenet " 11931 TNFSF15 "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 11931 TNFSF15 "Ulcerative colitis" MONDO_0005101 "Disgenet " 11934 TNFSF4 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 11934 TNFSF4 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 11935 CD40LG "Hyper IgM Immunodeficiency Syndrome" MONDO_0003947 "Disgenet " 11935 CD40LG "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 11935 CD40LG "Multiple Myeloma" MONDO_0009693 "Disgenet " 11935 CD40LG "HIV infection" MONDO_0005109 "Disgenet " 11935 CD40LG "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 11935 CD40LG "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 11935 CD40LG "Kawasaki's disease" MONDO_0012727 "Disgenet " 11935 CD40LG "HIGM1 Syndromes" MONDO_0010626 "Disgenet " 11935 CD40LG Pneumonia MONDO_0005249 "Disgenet " 11935 CD40LG "Brill Symmers Disease" MONDO_0018906 "Disgenet " 11935 CD40LG "Common Variable Immunodeficiency" MONDO_0015517 "Disgenet " 11935 CD40LG "Glomerulonephritides, Lupus" MONDO_0005556 "Disgenet " 11935 CD40LG "Lymphoma, Large-Cell, Follicular" MONDO_0018906 "Disgenet " 11935 CD40LG "Hodgkin's granuloma" MONDO_0004952 "Disgenet " 11935 CD40LG "Coronary Disease" MONDO_0005010 "Disgenet " 11935 CD40LG "Autoimmune Thrombocytopenic Purpuras" MONDO_0008558 "Disgenet " 11935 CD40LG Dysgammaglobulinemia MONDO_0001342 "Disgenet " 11935 CD40LG "hyper-IgM syndrome type 1" MONDO:0010626 "ClinGen " 11935 CD40LG "GRAVES DISEASE" MONDO_0005364 "Disgenet " 11936 FASLG "Multiple Sclerosis" MONDO_0005301 "Disgenet " 11936 FASLG Cholangiocarcinoma MONDO_0019087 "Disgenet " 11936 FASLG "Cancer, Lung" MONDO_0008903 "Disgenet " 11936 FASLG Melanoma MONDO_0005105 "Disgenet " 11936 FASLG Atherosclerosis MONDO_0005311 "Disgenet " 11936 FASLG "Chronic hepatitis, unspecified" MONDO_0002251 "Disgenet " 11936 FASLG "AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME" MONDO_0011158 "Disgenet " 11936 FASLG "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 11936 FASLG "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 11936 FASLG "Liver Failure, Acute" MONDO_0019542 "Disgenet " 11936 FASLG "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 11936 FASLG "Acute Lung Injury" MONDO_0015796 "Disgenet " 11936 FASLG "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 11936 FASLG "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11936 FASLG "Lung Neoplasm" MONDO_0002732 "Disgenet " 11936 FASLG "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 11936 FASLG "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 11936 FASLG "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 11936 FASLG "autoimmune lymphoproliferative syndrome type 1" MONDO:0011158 "ClinGen " 11939 TNFSF9 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 11939 TNFSF9 "Viral illness" MONDO_0005108 "Disgenet " 11939 TNFSF9 Myocarditides MONDO_0004496 "Disgenet " 11943 TNNC1 "CARDIOMYOPATHY, DILATED, 1Z" MONDO_0012745 "Disgenet " 11943 TNNC1 Cardiomyopathy MONDO_0004994 "Disgenet " 11943 TNNC1 "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13" MONDO_0013195 "Disgenet " 11943 TNNC1 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 11943 TNNC1 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 11943 TNNC1 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 11943 TNNC1 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 11943 TNNC1 "arrhythmogenic right ventricular cardiomyopathy" MONDO:0016587 "ClinGen " 11944 TNNC2 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 11944 TNNC2 MYONRI MONDO_0859335 "Disgenet " 11946 TNNI2 "ARTHROGRYPOSIS, DISTAL, TYPE 2B1" MONDO_0020820 "Disgenet " 11946 TNNI2 DA1 MONDO_0019942 "Disgenet " 11946 TNNI2 "distal arthrogryposis" MONDO_0019942 "Disgenet " 11946 TNNI2 SHS MONDO_0011128 "Disgenet " 11946 TNNI2 Myopathy MONDO_0003939 "Disgenet " 11946 TNNI2 Arthrogryposes MONDO_0015168 "Disgenet " 11947 TNNI3 "Cardiac Disease" MONDO_0005267 "Disgenet " 11947 TNNI3 "Acute Coronary Syndrome" MONDO_0005542 "Disgenet " 11947 TNNI3 "Cardiomyopathy, Hypertrophic, Familial" MONDO_0024573 "Disgenet " 11947 TNNI3 Myocarditides MONDO_0004496 "Disgenet " 11947 TNNI3 RCM1 MONDO_0016340 "Disgenet " 11947 TNNI3 Cardiomyopathy MONDO_0004994 "Disgenet " 11947 TNNI3 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 11947 TNNI3 "arrhythmogenic right ventricular cardiomyopathy" MONDO:0016587 "ClinGen " 11947 TNNI3 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 11947 TNNI3 CMD1A MONDO_0005021 "Disgenet " 11947 TNNI3 CMD1FF MONDO_0013211 "Disgenet " 11947 TNNI3 "CARDIOMYOPATHY, DILATED, 2A" MONDO_0012746 "Disgenet " 11947 TNNI3 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 11947 TNNI3 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 11947 TNNI3 "Restrictive cardiomyopathy" MONDO_0005201 "Disgenet " 11947 TNNI3 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 11947 TNNI3 "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7" MONDO_0013369 "Disgenet " 11948 TNNT1 "Myopathies, Nemaline" MONDO_0018958 "Disgenet " 11948 TNNT1 Myopathy MONDO_0003939 "Disgenet " 11948 TNNT1 "nemaline myopathy 5" MONDO:0011539 "ClinGen " 11948 TNNT1 "nemaline myopathy" MONDO:0018958 "ClinGen " 11948 TNNT1 ANM MONDO_0011539 "Disgenet " 11948 TNNT1 "NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT" MONDO_0957284 "Disgenet " 11948 TNNT1 NEM5B MONDO_0957281 "Disgenet " 11949 TNNT2 "Left ventricular noncompaction" MONDO_0018901 "Disgenet " 11949 TNNT2 "Left Ventricular Non-Compaction Syndrome" MONDO_0018901 "Disgenet " 11949 TNNT2 CMD1D MONDO_0011095 "Disgenet " 11949 TNNT2 "Cardiovascular Disease" MONDO_0004995 "Disgenet " 11949 TNNT2 "Familial dilated cardiomyopathy" MONDO_0016333 "Disgenet " 11949 TNNT2 "Congestive heart failure" MONDO_0005252 "Disgenet " 11949 TNNT2 "Acute Coronary Syndrome" MONDO_0005542 "Disgenet " 11949 TNNT2 "Restrictive cardiomyopathy" MONDO_0005201 "Disgenet " 11949 TNNT2 "Cardiomyopathy, Hypertrophic, Familial" MONDO_0024573 "Disgenet " 11949 TNNT2 Cardiomyopathy MONDO_0004994 "Disgenet " 11949 TNNT2 "Heart failure" MONDO_0005252 "Disgenet " 11949 TNNT2 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 11949 TNNT2 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 11949 TNNT2 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 11949 TNNT2 "arrhythmogenic right ventricular cardiomyopathy" MONDO:0016587 "ClinGen " 11949 TNNT2 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 11949 TNNT2 "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2" MONDO_0007266 "Disgenet " 11949 TNNT2 "Cardiac Disease" MONDO_0005267 "Disgenet " 11949 TNNT2 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 11950 TNNT3 DA2B2 MONDO_0032750 "Disgenet " 11950 TNNT3 DA1 MONDO_0019942 "Disgenet " 11950 TNNT3 "distal arthrogryposis" MONDO_0019942 "Disgenet " 11950 TNNT3 "Myopathies, Nemaline" MONDO_0018958 "Disgenet " 11950 TNNT3 SHS MONDO_0011128 "Disgenet " 11950 TNNT3 "nemaline myopathy" MONDO:0018958 "ClinGen " 11953 TNR "neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus" MONDO:0859212 "ClinGen " 11953 TNR "Parkinson Disease" MONDO_0014796 "Disgenet " 11957 MED12 Depression MONDO_0002050 "Disgenet " 11957 MED12 "Unspecified nonorganic psychosis" "Disgenet " 11957 MED12 "Depressive neurosis" MONDO_0002050 "Disgenet " 11957 MED12 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11957 MED12 Leiomyosarcoma MONDO_0005058 "Disgenet " 11957 MED12 "Cholestasis-pigmentary retinopathy-cleft palate syndrome" MONDO_0012997 "Disgenet " 11957 MED12 "Phyllodes Tumor" MONDO_0015871 "Disgenet " 11957 MED12 FGS1 MONDO_0010590 "Disgenet " 11957 MED12 "MED12-related intellectual disability syndrome" MONDO:0100000 "ClinGen " 11957 MED12 "Breast Neoplasms" MONDO_0021100 "Disgenet " 11957 MED12 Psychosis MONDO_0005485 "Disgenet " 11957 MED12 "Blepharophimosis syndrome Ohdo type" MONDO_0000734 "Disgenet " 11957 MED12 Schizophrenias MONDO_0005090 "Disgenet " 11957 MED12 "Absent corpus callosum" MONDO_0009022 "Disgenet " 11957 MED12 Fibroadenoma MONDO_0002056 "Disgenet " 11957 MED12 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 11957 MED12 "Lujan-Fryns syndrome" MONDO_0010398 "Disgenet " 11957 MED12 FGS MONDO_0010590 "Disgenet " 11957 MED12 "Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type" MONDO_0010477 "Disgenet " 11957 MED12 "UTERUS FIBROMA" MONDO_0007886 "Disgenet " 11960 GIGYF2 "Parkinson Disease" MONDO_0014796 "Disgenet " 11968 CNPY3 EIEE60 MONDO_0033369 "Disgenet " 11973 TNS1 "Cancer, Breast" MONDO_0007254 "Disgenet " 11976 TNXB "ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY" MONDO_0008728 "Disgenet " 11976 TNXB "Ehlers-Danlos syndrome caused by tenascin-X deficiency" MONDO_0011670 "Disgenet " 11976 TNXB "Adrenal Hyperplasia, Congenital" MONDO_0018479 "Disgenet " 11976 TNXB Schizophrenias MONDO_0005090 "Disgenet " 11976 TNXB "Reflux, Vesico-Ureteral" MONDO_0006007 "Disgenet " 11976 TNXB "Ehlers Danlos Syndrome" MONDO_0020066 "Disgenet " 11976 TNXB "Ehlers-Danlos syndrome, type 3 (disorder)" MONDO_0007523 "Disgenet " 11986 TOP1 "Cancer, Breast" MONDO_0007254 "Disgenet " 11989 TOP2A "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 11989 TOP2A "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11989 TOP2A "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11989 TOP2A Leukemias MONDO_0005059 "Disgenet " 11989 TOP2A "Adrenal cortical carcinoma" MONDO_0006639 "Disgenet " 11989 TOP2A "Liver Neoplasm" MONDO_0002691 "Disgenet " 11989 TOP2A Gliomas MONDO_0021042 "Disgenet " 11989 TOP2A "Breast Neoplasms" MONDO_0021100 "Disgenet " 11990 TOP2B "B-CELL IMMUNODEFICIENCY, DISTAL LIMB ANOMALIES, AND UROGENITAL MALFORMATIONS" MONDO_0012243 "Disgenet " 11990 TOP2B "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 11990 TOP2B "B-cell immunodeficiency, distal limb anomalies, and urogenital malformations" MONDO:0012243 "ClinGen " 11992 TOP3A "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 11992 TOP3A "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5" MONDO_0020845 "Disgenet " 11993 TOP3B Schizophrenias MONDO_0005090 "Disgenet " 11998 TP53 "Neoplasm, Tongue" MONDO_0004631 "Disgenet " 11998 TP53 ALL MONDO_0004967 "Disgenet " 11998 TP53 "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 11998 TP53 "Uterine adenocarcinoma" MONDO_0005461 "Disgenet " 11998 TP53 "Liver Neoplasm" MONDO_0002691 "Disgenet " 11998 TP53 Angiosarcomas MONDO_0016982 "Disgenet " 11998 TP53 "Papillary Thyroid Carcinoma" MONDO_0005075 "Disgenet " 11998 TP53 "Bladder transitional cell carcinoma" MONDO_0005611 "Disgenet " 11998 TP53 "Pancreatic adenocarcinoma" MONDO_0006047 "Disgenet " 11998 TP53 "Carcinoma, Intraductal, Noninfiltrating" MONDO_0005023 "Disgenet " 11998 TP53 "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 11998 TP53 Epithelioma MONDO_0004993 "Disgenet " 11998 TP53 "Malignant melanoma of skin" MONDO_0005012 "Disgenet " 11998 TP53 "Cancer, Cervical" MONDO_0002974 "Disgenet " 11998 TP53 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 11998 TP53 "OVARIAN CANCER, EPITHELIAL" MONDO_0018364 "Disgenet " 11998 TP53 "Oral Cancer" MONDO_0023644 "Disgenet " 11998 TP53 "adenocarcinoma of esophagus (diagnosis)" MONDO_0005028 "Disgenet " 11998 TP53 "familial cancer of breast" MONDO_0016419 "Disgenet " 11998 TP53 "Anaplastic Thyroid Carcinoma" MONDO_0006468 "Disgenet " 11998 TP53 "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 11998 TP53 Cholangiocarcinoma MONDO_0019087 "Disgenet " 11998 TP53 "Myeloid neoplasia" MONDO_0005170 "Disgenet " 11998 TP53 "Anaplastic astrocytoma" MONDO_0019781 "Disgenet " 11998 TP53 "Neoplasm, Thyroid" MONDO_0015074 "Disgenet " 11998 TP53 "carcinoma of nasopharynx (diagnosis)" MONDO_0015459 "Disgenet " 11998 TP53 "Squamous cell carcinoma of skin" MONDO_0002529 "Disgenet " 11998 TP53 "Hodgkin's granuloma" MONDO_0004952 "Disgenet " 11998 TP53 "adenocarcinoma of prostate gland" MONDO_0005082 "Disgenet " 11998 TP53 Mesothelioma MONDO_0005065 "Disgenet " 11998 TP53 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 11998 TP53 "Childhood Renal Wilms' Tumor" MONDO_0024676 "Disgenet " 11998 TP53 "Cutaneous T Cell Lymphoma" MONDO_0015758 "Disgenet " 11998 TP53 Thymoma MONDO_0006456 "Disgenet " 11998 TP53 "lymphoid neoplasm" MONDO_0005157 "Disgenet " 11998 TP53 "Adrenal Gland Neoplasm" MONDO_0002817 "Disgenet " 11998 TP53 "adenocarcinoma of breast (diagnosis)" MONDO_0004988 "Disgenet " 11998 TP53 "Adenoid cystic carcinoma" MONDO_0003175 "Disgenet " 11998 TP53 "Li-Fraumeni syndrome" MONDO:0018875 "ClinGen " 11998 TP53 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 11998 TP53 Gliomas MONDO_0021042 "Disgenet " 11998 TP53 "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 11998 TP53 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 11998 TP53 "Cancer, Breast" MONDO_0007254 "Disgenet " 11998 TP53 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 11998 TP53 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 11998 TP53 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 11998 TP53 Sarcoma MONDO_0005089 "Disgenet " 11998 TP53 Neuroblastoma MONDO_0005072 "Disgenet " 11998 TP53 "Lung Neoplasm" MONDO_0002732 "Disgenet " 11998 TP53 "Li Fraumeni Syndrome" MONDO_0018875 "Disgenet " 11998 TP53 "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 11998 TP53 "Breast Neoplasms" MONDO_0021100 "Disgenet " 11998 TP53 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 11998 TP53 "Adrenal cortical carcinoma" MONDO_0006639 "Disgenet " 11998 TP53 Glioblastoma MONDO_0018177 "Disgenet " 11998 TP53 "Multiple Myeloma" MONDO_0009693 "Disgenet " 11998 TP53 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 11998 TP53 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 11998 TP53 Astrocytoma MONDO_0019781 "Disgenet " 11998 TP53 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 11998 TP53 "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 11998 TP53 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 11998 TP53 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 11998 TP53 Lymphomas MONDO_0005062 "Disgenet " 11998 TP53 Melanoma MONDO_0005105 "Disgenet " 11998 TP53 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 11998 TP53 Adenocarcinoma MONDO_0004970 "Disgenet " 11998 TP53 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 11998 TP53 "Dysmyelopoietic Syndrome" MONDO_0018881 "Disgenet " 11998 TP53 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 11998 TP53 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 11998 TP53 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 11998 TP53 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 11998 TP53 "Cancer Syndrome, Hereditary" MONDO_0015356 "Disgenet " 11998 TP53 "Osteosarcoma of Bone" MONDO_0002629 "Disgenet " 11998 TP53 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 11998 TP53 Carcinoma MONDO_0004993 "Disgenet " 11998 TP53 "Pancreatic carcinoma" MONDO_0005192 "Disgenet " 11998 TP53 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 11998 TP53 "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 11998 TP53 "Choroid plexus papilloma" MONDO_0009837 "Disgenet " 11998 TP53 "CARCINOMA OF ESOPHAGUS" MONDO_0007576 "Disgenet " 11998 TP53 "Malignant neoplasm of esophagus" MONDO_0007576 "Disgenet " 11998 TP53 Adenoma MONDO_0004972 "Disgenet " 11998 TP53 "Neoplasm, Skin" MONDO_0002531 "Disgenet " 11998 TP53 "Brain Neoplasms" MONDO_0021211 "Disgenet " 11998 TP53 Medulloblastoma MONDO_0007959 "Disgenet " 11998 TP53 "Glioma, malignant" MONDO_0100342 "Disgenet " 11998 TP53 "Choroid plexus papilloma, malignant" MONDO_0016718 "Disgenet " 11998 TP53 "Cancer, Squamous Cell" MONDO_0002532 "Disgenet " 11998 TP53 Rhabdomyosarcoma MONDO_0005212 "Disgenet " 11998 TP53 Nephroblastoma MONDO_0019004 "Disgenet " 11998 TP53 "Head and Neck Neoplasms" MONDO_0005586 "Disgenet " 11998 TP53 "malignant squamous cell neoplasm of oral cavity (diagnosis)" MONDO_0004958 "Disgenet " 11998 TP53 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 11998 TP53 CRC MONDO_0005335 "Disgenet " 11998 TP53 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 11998 TP53 "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 11998 TP53 "Mouth Neoplasm" MONDO_0021245 "Disgenet " 11998 TP53 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 11999 TP53BP1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 11999 TP53BP1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 11999 TP53BP1 Glioblastoma MONDO_0018177 "Disgenet " 11999 TP53BP1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 11999 TP53BP1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 120 ACOX2 "congenital bile acid synthesis defect 6" MONDO:0015015 "ClinGen " 120 ACOX2 "BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6" MONDO_0015015 "Disgenet " 12003 TP73 "Cancer, Breast" MONDO_0007254 "Disgenet " 12003 TP73 "ciliary dyskinesia, primary, 47, and lissencephaly" MONDO:0030346 "ClinGen " 12003 TP73 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 12003 TP73 "Malignant neoplasm of cervix uteri" MONDO_0002974 "Disgenet " 12003 TP73 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 12003 TP73 "Lung Neoplasm" MONDO_0002732 "Disgenet " 12003 TP73 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 12003 TP73 "Breast Neoplasms" MONDO_0021100 "Disgenet " 12003 TP73 "human T cell leukemia" MONDO_0019471 "Disgenet " 12003 TP73 Adenoma MONDO_0004972 "Disgenet " 12003 TP73 Nephroblastoma MONDO_0019004 "Disgenet " 12003 TP73 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 12005 TPD52 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 12008 TPH1 Schizophrenias MONDO_0005090 "Disgenet " 12008 TPH1 "Borderline Personality Disorder" MONDO_0001156 "Disgenet " 12008 TPH1 Depression MONDO_0002050 "Disgenet " 12008 TPH1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 12008 TPH1 "severe major depressive disorder with psychotic features" "Disgenet " 12008 TPH1 "Major depressive disorder, single episode, unspecified degree" MONDO_0002050 "Disgenet " 12008 TPH1 Alcoholism MONDO_0002046 "Disgenet " 12008 TPH1 "Affective Disorders" MONDO_0005371 "Disgenet " 12008 TPH1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 12008 TPH1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 12008 TPH1 "Depressive neurosis" MONDO_0002050 "Disgenet " 12009 TPI1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 12009 TPI1 "Triosephosphate Isomerase Deficiency" MONDO_0014221 "Disgenet " 12009 TPI1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 12009 TPI1 "Anemia, Hemolytic" MONDO_0003664 "Disgenet " 12010 TPM1 "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3" MONDO_0007267 "Disgenet " 12010 TPM1 "CARDIOMYOPATHY, DILATED, 1Y" MONDO_0012744 "Disgenet " 12010 TPM1 Cardiomyopathy MONDO_0004994 "Disgenet " 12010 TPM1 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 12010 TPM1 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 12010 TPM1 "Cardiomyopathy, Hypertrophic, Familial" MONDO_0024573 "Disgenet " 12010 TPM1 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 12010 TPM1 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 12010 TPM1 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 12010 TPM1 "arrhythmogenic right ventricular cardiomyopathy" MONDO:0016587 "ClinGen " 12011 TPM2 "TPM2-related myopathy" MONDO:0100196 "ClinGen " 12011 TPM2 DA1 MONDO_0019942 "Disgenet " 12011 TPM2 Arthrogryposes MONDO_0015168 "Disgenet " 12011 TPM2 SHS MONDO_0011128 "Disgenet " 12011 TPM2 NEM4 MONDO_0012240 "Disgenet " 12011 TPM2 CFTD MONDO_0800341 "Disgenet " 12011 TPM2 "Myopathies, Nemaline" MONDO_0018958 "Disgenet " 12011 TPM2 "Cap Disease" MONDO_0015753 "Disgenet " 12012 TPM3 "Cap Disease" MONDO_0015753 "Disgenet " 12012 TPM3 "TPM3-related myopathy" MONDO:0100108 "ClinGen " 12012 TPM3 "TPM3-related myopathy" MONDO:0100108 "ClinGen " 12012 TPM3 "Myopathies, Nemaline" MONDO_0018958 "Disgenet " 12012 TPM3 Myopathy MONDO_0003939 "Disgenet " 12012 TPM3 CFTD MONDO_0800341 "Disgenet " 12012 TPM3 Carcinoma MONDO_0004993 "Disgenet " 12012 TPM3 "Neoplasm, Thyroid" MONDO_0015074 "Disgenet " 12012 TPM3 "Inflammatory Pseudotumors" MONDO_0015798 "Disgenet " 12013 TPM4 "Cancer, Breast" MONDO_0007254 "Disgenet " 12013 TPM4 "TPM4-related platelet disorder" MONDO:0100487 "ClinGen " 12014 TPMT Alopecias MONDO_0004907 "Disgenet " 12014 TPMT Leukopenia MONDO_0003785 "Disgenet " 12014 TPMT ALL MONDO_0004967 "Disgenet " 12014 TPMT Neutropenia MONDO_0001475 "Disgenet " 12014 TPMT "TPMT deficiency" MONDO_0000210 "Disgenet " 12015 TPO "GRAVES DISEASE" MONDO_0005364 "Disgenet " 12015 TPO "thyroid dyshormonogenesis" MONDO_0010132 "Disgenet " 12015 TPO "Deficiency of iodide peroxidase (disorder)" MONDO_0010133 "Disgenet " 12015 TPO "Congenital hypothyroidism" MONDO_0010142 "Disgenet " 12015 TPO Goiter MONDO_0005397 "Disgenet " 12016 TPP2 IMD78 MONDO_0018636 "Disgenet " 12017 TPR "Neoplasm, Thyroid" MONDO_0015074 "Disgenet " 12019 TPSAB1 "Irritable Bowel Syndrome" MONDO_0005052 "Disgenet " 12020 TPST1 "adenocarcinoma of large intestine (diagnosis)" MONDO_0005008 "Disgenet " 12028 HSP90B1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 12028 HSP90B1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 12031 TRAF1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 12033 TRAF3 "TRAF3 haploinsufficiency" MONDO:0100513 "ClinGen " 12033 TRAF3 "Herpes encephalitis" MONDO_0012521 "Disgenet " 12036 TRAF6 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 122 ACP1 Schizophrenias MONDO_0005090 "Disgenet " 122 ACP1 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 122 ACP1 Obesity MONDO_0019182 "Disgenet " 122 ACP1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 122 ACP1 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 122 ACP1 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 122 ACP1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 1226 GIPC1 OPDM2 MONDO_0030134 "Disgenet " 1226 GIPC1 OPDM MONDO_0025193 "Disgenet " 12261 TRDN "Long QT Syndrome" MONDO_0002442 "Disgenet " 12261 TRDN CPVT5 MONDO_0014191 "Disgenet " 12261 TRDN "Polymorphic catecholergic ventricular tachycardia" MONDO_0017990 "Disgenet " 12261 TRDN "catecholaminergic polymorphic ventricular tachycardia" MONDO:0017990 "ClinGen " 12261 TRDN "long QT syndrome" MONDO:0002442 "ClinGen " 12269 TREX1 "TREX1-related type 1 interferonopathy" MONDO:0700256 "ClinGen " 12269 TREX1 "lupus pernio" MONDO_0019557 "Disgenet " 12269 TREX1 "CADASIL Syndrome" MONDO_0007432 "Disgenet " 12269 TREX1 AGS1 MONDO_0018866 "Disgenet " 12269 TREX1 "Familial Chilblain lupus" MONDO_0018827 "Disgenet " 12269 TREX1 "CHILBLAIN LUPUS 1" MONDO_0018827 "Disgenet " 12269 TREX1 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 12269 TREX1 CRV MONDO_0008641 "Disgenet " 12269 TREX1 "Aicardi-Goutieres syndrome" MONDO_0018866 "Disgenet " 1228 SERPING1 "hereditary angioneurotic edema" MONDO_0019623 "Disgenet " 1228 SERPING1 "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 1228 SERPING1 "Acquired angioedema" MONDO_0019624 "Disgenet " 1228 SERPING1 "hereditary angioedema with C1Inh deficiency" MONDO:0033946 "ClinGen " 1228 SERPING1 HANE MONDO_0019623 "Disgenet " 12303 TRIO "Childhood autism" MONDO_0005260 "Disgenet " 12303 TRIO "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 12303 TRIO "Developmental delay" "Disgenet " 12303 TRIO "syndromic intellectual disability" MONDO:0000508 "ClinGen " 12303 TRIO MRD44 MONDO_0014892 "Disgenet " 12303 TRIO "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 12305 TRIP11 "TRIP11-related skeletal dysplasia" MONDO:1040009 "ClinGen " 12305 TRIP11 "ACHONDROGENESIS, TYPE IA" MONDO_0019648 "Disgenet " 12305 TRIP11 Achondrogenesis MONDO_0019648 "Disgenet " 12305 TRIP11 "Spondylometaphyseal dysplasia with dentinogenesis imperfecta" MONDO_0031169 "Disgenet " 12306 TRIP12 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 12306 TRIP12 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 12306 TRIP12 "Clark-Baraitser syndrome" MONDO_0030914 "Disgenet " 12306 TRIP12 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 12307 TRIP13 "Childhood Renal Wilms' Tumor" MONDO_0024676 "Disgenet " 12307 TRIP13 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 12307 TRIP13 Nephroblastoma MONDO_0019004 "Disgenet " 12309 ZNHIT3 "PEHO-Like Syndrome" MONDO_0009841 "Disgenet " 12309 ZNHIT3 "PEHO SYNDROME" MONDO_0009841 "Disgenet " 12313 JMJD1C "Childhood autism" MONDO_0005260 "Disgenet " 12313 JMJD1C "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 1232 EGLN1 neurotoxicity MONDO_0005527 "Disgenet " 1232 EGLN1 "Familial erythrocytosis" MONDO_0007572 "Disgenet " 1232 EGLN1 "ERYTHROCYTOSIS, FAMILIAL, 3" MONDO_0012353 "Disgenet " 1232 EGLN1 Polycythemias MONDO_0009892 "Disgenet " 12327 TROAP "Liver cell carcinoma" MONDO_0007256 "Disgenet " 12338 TRPC6 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 12338 TRPC6 Nephropathy MONDO_0005240 "Disgenet " 12338 TRPC6 "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 12338 TRPC6 NPHS2 MONDO_0010974 "Disgenet " 12338 TRPC6 "FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2" MONDO_0011390 "Disgenet " 12339 TRPM2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 12339 TRPM2 "Parkinson Disease" MONDO_0014796 "Disgenet " 12340 TRPS1 Brachydactyly MONDO_0021004 "Disgenet " 12340 TRPS1 "Abnormalities, Craniofacial" "Disgenet " 12340 TRPS1 "Trichorhinophalangeal syndrome" MONDO_0017951 "Disgenet " 12340 TRPS1 "Trichorhinophalangeal syndrome type 1" "Disgenet " 12340 TRPS1 "Giedion Langer Syndrome" MONDO_0007874 "Disgenet " 12340 TRPS1 "TRICHORHINOPHALANGEAL SYNDROME, TYPE I" MONDO_0017951 "Disgenet " 12340 TRPS1 "TRICHORHINOPHALANGEAL SYNDROME, TYPE III" MONDO_0008597 "Disgenet " 12347 TRRAP "Global developmental delay" "Disgenet " 12347 TRRAP "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 12347 TRRAP Melanoma MONDO_0005105 "Disgenet " 12347 TRRAP "Childhood autism" MONDO_0005260 "Disgenet " 12347 TRRAP Schizophrenias MONDO_0005090 "Disgenet " 12347 TRRAP "DEAFNESS, AUTOSOMAL DOMINANT 75" MONDO_0032911 "Disgenet " 12347 TRRAP "complex neurodevelopmental disorder with or without congenital anomalies" MONDO:0100465 "ClinGen " 12362 TSC1 "tuberous sclerosis" MONDO:0001734 "ClinGen " 12362 TSC1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 12362 TSC1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 12362 TSC1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 12362 TSC1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 12362 TSC1 LAM MONDO_0011705 "Disgenet " 12362 TSC1 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 12362 TSC1 "Tuberous Sclerosis 1" MONDO_0001734 "Disgenet " 12362 TSC1 Hamartomas MONDO_0006499 "Disgenet " 12362 TSC1 "Lung Lymphangiomyomatosis" MONDO_0006277 "Disgenet " 12362 TSC1 "Cardiac rhabdomyoma" MONDO_0006123 "Disgenet " 12362 TSC1 Angiofibroma "Disgenet " 12362 TSC1 "Fibrous skin tumor of tuberous sclerosis" MONDO_0001734 "Disgenet " 12362 TSC1 FCDT MONDO_0011818 "Disgenet " 12362 TSC1 Astrocytoma MONDO_0019781 "Disgenet " 12362 TSC1 "Cortical dysplasia" MONDO_0017094 "Disgenet " 12362 TSC1 "Tuberous Sclerosis" MONDO_0001734 "Disgenet " 12362 TSC1 Epilepsies MONDO_0005027 "Disgenet " 12362 TSC1 "Renal angiomyolipoma" MONDO_0004555 "Disgenet " 12362 TSC1 "Childhood autism" MONDO_0005260 "Disgenet " 12362 TSC1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 12363 TSC2 "Childhood autism" MONDO_0005260 "Disgenet " 12363 TSC2 Epilepsies MONDO_0005027 "Disgenet " 12363 TSC2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 12363 TSC2 "Kidney Neoplasm" MONDO_0002367 "Disgenet " 12363 TSC2 "Focal cortical dysplasia" "Disgenet " 12363 TSC2 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 12363 TSC2 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 12363 TSC2 "Unspecified congenital anomaly of brain, spinal cord, and nervous system" MONDO_0002320 "Disgenet " 12363 TSC2 APKD1 MONDO_0008263 "Disgenet " 12363 TSC2 PKDTS MONDO_0010856 "Disgenet " 12363 TSC2 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 12363 TSC2 "tuberous sclerosis" MONDO:0001734 "ClinGen " 12363 TSC2 "Tuberous Sclerosis 1" MONDO_0001734 "Disgenet " 12363 TSC2 Hamartomas MONDO_0006499 "Disgenet " 12363 TSC2 LAM MONDO_0011705 "Disgenet " 12363 TSC2 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 12363 TSC2 "Infantile spasms" MONDO_0018097 "Disgenet " 12363 TSC2 "Lung Neoplasm" MONDO_0002732 "Disgenet " 12363 TSC2 "angiomyolipoma of liver" MONDO_0002605 "Disgenet " 12363 TSC2 "Infantile spasms" "Disgenet " 12363 TSC2 "Tuberous Sclerosis" MONDO_0001734 "Disgenet " 12363 TSC2 "Tuberous Sclerosis 2" MONDO_0013199 "Disgenet " 12363 TSC2 "Lung Lymphangiomyomatosis" MONDO_0006277 "Disgenet " 12363 TSC2 "Fibroid Tumor" MONDO_0001572 "Disgenet " 12367 TSFM "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3" MONDO_0012512 "Disgenet " 12367 TSFM "mitochondrial disease" MONDO:0044970 "ClinGen " 12367 TSFM "Leigh syndrome" MONDO:0009723 "ClinGen " 12370 CEP41 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 12370 CEP41 CPD4 MONDO_0018772 "Disgenet " 12371 RSPH1 CILD24 MONDO_0014202 "Disgenet " 12371 RSPH1 "primary ciliary dyskinesia 24" MONDO:0014202 "ClinGen " 12371 RSPH1 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 12372 TSHB Hypothyroidism MONDO_0005420 "Disgenet " 12372 TSHB "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4" MONDO_0010139 "Disgenet " 12372 TSHB "THYROTROPIN DEFICIENCY, ISOLATED" MONDO_0010139 "Disgenet " 12372 TSHB "Congenital hypothyroidism" MONDO_0010142 "Disgenet " 12372 TSHB "secondary hypothyroidism (diagnosis)" MONDO_0005420 "Disgenet " 12380 TSNAX "Affective Disorders" MONDO_0005371 "Disgenet " 12380 TSNAX "Bipolar Disorders" MONDO_0004985 "Disgenet " 12382 TSPYL1 SIDDT MONDO_0012124 "Disgenet " 12382 TSPYL1 SIDS "Disgenet " 12385 PHLDA2 "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 12397 TTF1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 12399 MYOT "Limb-girdle muscular dystrophy 1A myotilin myopathy" MONDO_0012215 "Disgenet " 12399 MYOT MFM3 MONDO_0012215 "Disgenet " 12399 MYOT "Spheroid body myopathy" MONDO_0012215 "Disgenet " 12399 MYOT Cardiomyopathy MONDO_0004994 "Disgenet " 12399 MYOT "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 12399 MYOT "Myofibrillar myopathy" MONDO_0018943 "Disgenet " 12399 MYOT "limb girdle muscular dystrophy" MONDO_0016971 "Disgenet " 124 ACP5 "Hyperparathyroidism, Secondary" MONDO_0006964 "Disgenet " 124 ACP5 Spondyloenchondrodysplasia MONDO_0011939 "Disgenet " 124 ACP5 Obesity MONDO_0019182 "Disgenet " 124 ACP5 "SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION" MONDO_0011939 "Disgenet " 12403 TTN "Multicore Myopathy With External Ophthalmoplegia" MONDO_0018948 "Disgenet " 12403 TTN Cardiomyopathy MONDO_0004994 "Disgenet " 12403 TTN "Atrial Fibrillation" MONDO_0004981 "Disgenet " 12403 TTN "Myopathy, Early-Onset, with Fatal Cardiomyopathy" MONDO_0012714 "Disgenet " 12403 TTN "Restrictive cardiomyopathy" MONDO_0005201 "Disgenet " 12403 TTN "Long QT Syndrome" MONDO_0002442 "Disgenet " 12403 TTN "distal muscular dystrophy" MONDO_0018949 "Disgenet " 12403 TTN "Centronuclear myopathy" MONDO_0018947 "Disgenet " 12403 TTN "Conduction disorders" MONDO_0100042 "Disgenet " 12403 TTN "Left ventricular noncompaction" MONDO_0018901 "Disgenet " 12403 TTN "Cardiomyopathy, Hypertrophic, Familial" MONDO_0024573 "Disgenet " 12403 TTN "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 12403 TTN "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 12403 TTN "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9" MONDO_0013412 "Disgenet " 12403 TTN "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 12403 TTN LGMD2J MONDO_0012127 "Disgenet " 12403 TTN "TIBIAL MUSCULAR DYSTROPHY, TARDIVE" MONDO_0010870 "Disgenet " 12403 TTN "Muscular Dystrophies, Tibial" MONDO_0010870 "Disgenet " 12403 TTN "Congenital myopathies" MONDO_0013177 "Disgenet " 12403 TTN "limb girdle muscular dystrophy" MONDO_0016971 "Disgenet " 12403 TTN CMD1A MONDO_0005021 "Disgenet " 12403 TTN "Neuromuscular Disease" MONDO_0019056 "Disgenet " 12403 TTN "Familial dilated cardiomyopathy" MONDO_0016333 "Disgenet " 12403 TTN "CARDIOMYOPATHY, DILATED, 1G" MONDO_0011400 "Disgenet " 12403 TTN "Arrhythmogenic right ventricular dysplasia" MONDO_0016587 "Disgenet " 12403 TTN "Multiminicore myopathy" MONDO_0018948 "Disgenet " 12403 TTN "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 12403 TTN Myopathy MONDO_0003939 "Disgenet " 12403 TTN MPRM MONDO_0011362 "Disgenet " 12403 TTN "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 12403 TTN "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 12403 TTN "TTN-related myopathy" MONDO:0100175 "ClinGen " 12403 TTN "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 12403 TTN "tibial muscular dystrophy" MONDO:0010870 "ClinGen " 12403 TTN "myopathy, myofibrillar, 9, with early respiratory failure" MONDO:0011362 "ClinGen " 12403 TTN "arrhythmogenic right ventricular cardiomyopathy" MONDO:0016587 "ClinGen " 12406 TUB "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 12406 TUB "Retinal dystrophy" MONDO_0019118 "Disgenet " 12407 TUBA4A "amyotrophic lateral sclerosis type 22" MONDO:0014531 "ClinGen " 12407 TUBA4A "autosomal dominant macrothrombocytopenia" MONDO:0015372 "ClinGen " 12407 TUBA4A "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 12407 TUBA4A "AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA" MONDO_0014531 "Disgenet " 1241 C1QA "Glomerulonephritides, Membranoproliferative" MONDO_0018904 "Disgenet " 1241 C1QA C1QD MONDO_0013343 "Disgenet " 1241 C1QA "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 12410 TUBA8 "Polymicrogyria With Optic Nerve Hypoplasia" MONDO_0013172 "Disgenet " 12410 TUBA8 "polymicrogyria with optic nerve hypoplasia" MONDO:0013172 "ClinGen " 12412 TUBB2A tubulinopathy MONDO:0100153 "ClinGen " 12412 TUBB2A "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5" MONDO_0014337 "Disgenet " 12417 TUBG1 "lissencephaly spectrum disorders" MONDO:0018838 "ClinGen " 12417 TUBG1 Lissencephaly MONDO_0018838 "Disgenet " 12417 TUBG1 Microcephalies MONDO_0001149 "Disgenet " 12417 TUBG1 "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4" MONDO_0014171 "Disgenet " 1242 C1QB "C1Q deficiency" MONDO:0013343 "ClinGen " 1242 C1QB "Bergers Disease" MONDO_0005342 "Disgenet " 1242 C1QB C1QD MONDO_0013343 "Disgenet " 12420 TUFM "mitochondrial disease" MONDO:0044970 "ClinGen " 12420 TUFM "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4" MONDO_0012534 "Disgenet " 12425 TULP3 ciliopathy MONDO:0005308 "ClinGen " 12428 TWIST1 "Sweeney-Cox syndrome" MONDO:0060592 "ClinGen " 12428 TWIST1 "TWIST1-related craniosynostosis" MONDO:0007399 "ClinGen " 12428 TWIST1 "Saethre-Chotzen syndrome" MONDO:0007042 "ClinGen " 12428 TWIST1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 12428 TWIST1 Brachycephaly MONDO_0015469 "Disgenet " 12428 TWIST1 Acrocephalosyndactylia MONDO_0019796 "Disgenet " 12428 TWIST1 "Craniosynostosis (coronal)" "Disgenet " 12428 TWIST1 SWCOS MONDO_0060592 "Disgenet " 12428 TWIST1 "Saethre Chotzen Syndrome" MONDO_0007042 "Disgenet " 12428 TWIST1 "Cancer, Breast" MONDO_0007254 "Disgenet " 12428 TWIST1 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 12428 TWIST1 Craniosynostosis MONDO_0015469 "Disgenet " 12428 TWIST1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 12429 TWSG1 Holoprosencephalies MONDO_0016296 "Disgenet " 1243 C1QBP "mitochondrial disease" MONDO:0044970 "ClinGen " 1243 C1QBP "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 1243 C1QBP "Breast Neoplasms" MONDO_0021100 "Disgenet " 1243 C1QBP "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33" MONDO_0054677 "Disgenet " 12437 TXNRD1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 12440 TYK2 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 12440 TYK2 "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 12440 TYK2 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 12440 TYK2 "HIES with Atypical Mycobacteriosis, Autosomal Recessive" MONDO_0012682 "Disgenet " 12440 TYK2 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 12440 TYK2 Psoriases MONDO_0005083 "Disgenet " 12440 TYK2 "Deficiency Syndrome, Immunological" MONDO_0021094 "Disgenet " 12441 TYMS "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 12441 TYMS "Multiple Myeloma" MONDO_0009693 "Disgenet " 12441 TYMS Anemia MONDO_0002280 "Disgenet " 12441 TYMS "Dyskeratosis Congenita" MONDO_0015780 "Disgenet " 12441 TYMS "Brill Symmers Disease" MONDO_0018906 "Disgenet " 12441 TYMS "Head and Neck Neoplasms" MONDO_0005586 "Disgenet " 12441 TYMS "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 12441 TYMS "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 12441 TYMS "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 12441 TYMS "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 12441 TYMS "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 12441 TYMS ALL MONDO_0004967 "Disgenet " 12441 TYMS "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 12441 TYMS "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 12441 TYMS "Lung Neoplasm" MONDO_0002732 "Disgenet " 12441 TYMS "Breast Neoplasms" MONDO_0021100 "Disgenet " 12441 TYMS "Neoplasm, Rectal" MONDO_0002165 "Disgenet " 12441 TYMS "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 12441 TYMS "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 12441 TYMS "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 12441 TYMS "Liver cell carcinoma" MONDO_0007256 "Disgenet " 12441 TYMS "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 12449 TYROBP "Memory impairment" "Disgenet " 12449 TYROBP NHD MONDO_0009092 "Disgenet " 12449 TYROBP Dementia MONDO_0001627 "Disgenet " 12449 TYROBP "POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY" MONDO_0009092 "Disgenet " 12450 TYRP1 "Albinism, Oculocutaneous" MONDO_0018910 "Disgenet " 12450 TYRP1 Melanoma MONDO_0005105 "Disgenet " 12450 TYRP1 OCA3 MONDO_0008747 "Disgenet " 12450 TYRP1 "Albinism, Ocular" MONDO_0017304 "Disgenet " 12450 TYRP1 Albinism MONDO_0007862 "Disgenet " 12453 U2AF1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 12453 U2AF1 "Dysmyelopoietic Syndrome" MONDO_0018881 "Disgenet " 12453 U2AF1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 12453 U2AF1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1246 C1R "EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1" MONDO_0020684 "Disgenet " 1246 C1R "Ehlers-Danlos Syndrome, Periodontosis Type" MONDO_0007527 "Disgenet " 1247 C1S "Ehlers-Danlos Syndrome, Periodontosis Type" MONDO_0007527 "Disgenet " 1247 C1S "COMPLEMENT COMPONENT C1s DEFICIENCY" MONDO_0013419 "Disgenet " 1247 C1S EDSPD2 MONDO_0014954 "Disgenet " 12471 UBA7 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 12472 UBE2A MRXS30 MONDO_0010461 "Disgenet " 12472 UBE2A "syndromic X-linked intellectual disability Nascimento type" MONDO:0010461 "ClinGen " 12478 UBE2E2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 1248 C2 "Degeneration, Macular" MONDO_0003004 "Disgenet " 1248 C2 "COMPLEMENT COMPONENT 2 DEFICIENCY" MONDO_0009006 "Disgenet " 1249 TPX2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1249 TPX2 CRC MONDO_0005335 "Disgenet " 12496 UBE3A "Global developmental delay" "Disgenet " 12496 UBE3A Epilepsies MONDO_0005027 "Disgenet " 12496 UBE3A "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 12496 UBE3A "Angelman Syndrome" MONDO_0007113 "Disgenet " 12496 UBE3A "Child Development Disorder" MONDO_0005287 "Disgenet " 12496 UBE3A "Childhood autism" MONDO_0005260 "Disgenet " 12496 UBE3A "Angelman syndrome" MONDO:0007113 "ClinGen " 12496 UBE3A "Developmental delay" "Disgenet " 12496 UBE3A "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 12496 UBE3A "CHROMOSOME 15q11-q13 DUPLICATION SYNDROME" MONDO_0012081 "Disgenet " 125 ACP3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 125 ACP3 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 12502 SUMO1 "Cleft Palate" MONDO_0016064 "Disgenet " 12502 SUMO1 "OROFACIAL CLEFT 10" MONDO_0013378 "Disgenet " 12509 UBQLN2 ALS15 MONDO_0010459 "Disgenet " 12509 UBQLN2 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 12509 UBQLN2 "amyotrophic lateral sclerosis type 15" MONDO:0010459 "ClinGen " 12511 UBTF "childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder" MONDO:0044701 "ClinGen " 12511 UBTF "NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY" MONDO_0044701 "Disgenet " 12513 UCHL1 "Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)" MONDO_0014209 "Disgenet " 12513 UCHL1 NDGOA MONDO_0014209 "Disgenet " 12513 UCHL1 "Parkinson Disease" MONDO_0014796 "Disgenet " 12513 UCHL1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 12513 UCHL1 "hereditary spastic paraplegia" MONDO:0019064 "ClinGen " 12513 UCHL1 "hereditary spastic paraplegia" MONDO:0019064 "ClinGen " 12513 UCHL1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 12513 UCHL1 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 12516 UCN "High blood pressure" MONDO_0005044 "Disgenet " 12516 UCN "Anxiety Disorder" MONDO_0005618 "Disgenet " 12516 UCN "Depressive neurosis" MONDO_0002050 "Disgenet " 12516 UCN Depression MONDO_0002050 "Disgenet " 12517 UCP1 "Congestive heart failure" MONDO_0005252 "Disgenet " 12517 UCP1 "Heart failure" MONDO_0005252 "Disgenet " 12517 UCP1 "High blood pressure" MONDO_0005044 "Disgenet " 12517 UCP1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 12517 UCP1 Obesity MONDO_0019182 "Disgenet " 12518 UCP2 Obesity MONDO_0019182 "Disgenet " 12518 UCP2 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 12518 UCP2 Schizophrenias MONDO_0005090 "Disgenet " 12518 UCP2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 12518 UCP2 "Cerebrovascular accident" MONDO_0005098 "Disgenet " 12518 UCP2 "High blood pressure" MONDO_0005044 "Disgenet " 12518 UCP2 "Fatty Liver" MONDO_0004790 "Disgenet " 12519 UCP3 "Prediabetic State" MONDO_0006920 "Disgenet " 12519 UCP3 Obesity MONDO_0019182 "Disgenet " 12519 UCP3 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 12519 UCP3 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 12520 UFD1 Schizophrenias MONDO_0005090 "Disgenet " 12520 UFD1 "DiGeorge's syndrome" MONDO_0018923 "Disgenet " 12525 UGDH "epileptic encephalopathy" "Disgenet " 12525 UGDH "JAMUAR SYNDROME" MONDO_0032918 "Disgenet " 12525 UGDH "congenital heart disease" MONDO:0005453 "ClinGen " 12527 UGP2 EIEE83 MONDO_0032895 "Disgenet " 12538 UGT1A6 "Gilbert's syndrome" MONDO_0007745 "Disgenet " 12556 UHRF1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 12557 UHRF2 CRC MONDO_0005335 "Disgenet " 12558 ULK1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 12563 UMPS "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 12563 UMPS "Hereditary Orotic Aciduria" MONDO_0009797 "Disgenet " 12563 UMPS "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 12563 UMPS "Liver cell carcinoma" MONDO_0007256 "Disgenet " 12563 UMPS "Breast Neoplasms" MONDO_0021100 "Disgenet " 12563 UMPS "Hereditary orotic aciduria, type 1" MONDO_0009797 "Disgenet " 12565 UNC119 ICL MONDO_0014226 "Disgenet " 12565 UNC119 "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 12572 UNG "Hyper IgM Immunodeficiency Syndrome" MONDO_0003947 "Disgenet " 12572 UNG "Bloom Syndrome" MONDO_0008876 "Disgenet " 12572 UNG "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 12572 UNG "HIGM5 Syndromes" MONDO_0011971 "Disgenet " 12572 UNG "hyper-IgM syndrome type 5" MONDO:0011971 "ClinGen " 12580 UPK3A "congenital anomaly of kidney and urinary tract" MONDO:0019719 "ClinGen " 12580 UPK3A HRA MONDO_0018470 "Disgenet " 12582 UQCRB "Mitochondrial Complex III Deficiency" MONDO_0015448 "Disgenet " 12585 UQCRC1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 12586 UQCRC2 "mitochondrial disease" MONDO:0044970 "ClinGen " 12586 UQCRC2 "Mitochondrial Complex III Deficiency" MONDO_0015448 "Disgenet " 12586 UQCRC2 "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5" MONDO_0014066 "Disgenet " 12587 UQCRFS1 "Mitochondrial Complex III Deficiency" MONDO_0015448 "Disgenet " 12591 UROD "UROD-related inherited porphyria" MONDO:0100498 "ClinGen " 12591 UROD "Familial porphyria cutanea tarda" MONDO_0008296 "Disgenet " 12591 UROD "Head and Neck Neoplasms" MONDO_0005586 "Disgenet " 12591 UROD "PORPHYRIA CUTANEA TARDA, TYPE I" MONDO_0008295 "Disgenet " 12591 UROD "Porphyria cutanea tarda" MONDO_0008296 "Disgenet " 12591 UROD "Erythrohepatic Porphyria" MONDO_0019799 "Disgenet " 12592 UROS "cutaneous porphyria" MONDO:0009902 "ClinGen " 12592 UROS "Porphyria, Erythropoietic" MONDO_0009902 "Disgenet " 12593 USF1 "Combined Hyperlipidemia, Familial" MONDO_0007759 "Disgenet " 12593 USF1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 12593 USF1 "Cardiovascular Disease" MONDO_0004995 "Disgenet " 12594 USF2 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 12597 USH1C DFNB18 MONDO_0011192 "Disgenet " 12597 USH1C USH1C MONDO_0010171 "Disgenet " 12597 USH1C "Usher syndrome type 1" MONDO:0010168 "ClinGen " 12597 USH1C "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 12597 USH1C Hypoacusis MONDO_0005365 "Disgenet " 12597 USH1C "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 12597 USH1C "Usher syndrome" MONDO_0019501 "Disgenet " 12597 USH1C "USH1A, FORMERLY" MONDO_0700087 "Disgenet " 1260 CFAP410 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 1260 CFAP410 "RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA" MONDO_0060507 "Disgenet " 1260 CFAP410 "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 1260 CFAP410 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 1260 CFAP410 "Retinal dystrophy" MONDO_0019118 "Disgenet " 1260 CFAP410 "SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL" MONDO_0011211 "Disgenet " 1260 CFAP410 "amyotrophic lateral sclerosis" MONDO:0004976 "ClinGen " 12601 USH2A "Usher syndrome type 2" MONDO:0016484 "ClinGen " 12601 USH2A Hypoacusis MONDO_0005365 "Disgenet " 12601 USH2A "Autosomal recessive retinitis pigmentosa" "Disgenet " 12601 USH2A "rod cone dystrophy" MONDO_0015993 "Disgenet " 12601 USH2A "RETINITIS PIGMENTOSA 39" MONDO_0013436 "Disgenet " 12601 USH2A "Usher Syndrome Type 2" MONDO_0016484 "Disgenet " 12601 USH2A "Usher syndrome" MONDO_0019501 "Disgenet " 12601 USH2A USH2A MONDO_0010169 "Disgenet " 12601 USH2A "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 12601 USH2A USH3 MONDO_0010170 "Disgenet " 12601 USH2A "Retinal dystrophy" MONDO_0019118 "Disgenet " 12601 USH2A "Congenital sensorineural hearing loss" "Disgenet " 12601 USH2A "Usher Syndrome, Type III" MONDO_0019501 "Disgenet " 12601 USH2A USH2D MONDO_0016485 "Disgenet " 12618 USP2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 12624 USP25 epilepsy MONDO:0005027 "ClinGen " 12631 USP8 "Pituitary Corticotropin Secreting Adenoma" MONDO_0009050 "Disgenet " 12631 USP8 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 12631 USP8 "Pituitary-dependent Cushing's disease" MONDO_0020528 "Disgenet " 12632 USP9X "X-linked syndromic intellectual disability" MONDO:0020119 "ClinGen " 12632 USP9X MRX99 MONDO_0010487 "Disgenet " 12632 USP9X "Global developmental delay" "Disgenet " 12632 USP9X "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 12632 USP9X "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 12632 USP9X MRXS99F MONDO_0010502 "Disgenet " 12632 USP9X "Developmental delay" "Disgenet " 12635 UTRN "Muscular Dystrophy, Duchenne" MONDO_0010679 "Disgenet " 12637 KDM6A "Kabuki syndrome 2" MONDO:0010465 "ClinGen " 12637 KDM6A "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 12637 KDM6A KMS MONDO_0007843 "Disgenet " 12637 KDM6A "Adenoid cystic carcinoma" MONDO_0003175 "Disgenet " 12637 KDM6A "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 12637 KDM6A "Chronic myelomonocytic leukemia" MONDO_0020311 "Disgenet " 12637 KDM6A "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 12637 KDM6A "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 12637 KDM6A "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 12637 KDM6A "Liver cell carcinoma" MONDO_0007256 "Disgenet " 12637 KDM6A "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 12637 KDM6A "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 12637 KDM6A CRC MONDO_0005335 "Disgenet " 12637 KDM6A "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 12637 KDM6A "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 12637 KDM6A "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 12637 KDM6A "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 12637 KDM6A "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 12641 UXT "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 12642 VAMP1 "CONGEN MYASTHENIC SYNDROMES PRESYNAPTIC" MONDO_0018940 "Disgenet " 12642 VAMP1 SPAX1 MONDO_0007164 "Disgenet " 12642 VAMP1 "CONGEN MYASTHENIA GRAVIS" MONDO_0018940 "Disgenet " 12643 VAMP2 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 12647 VAMP8 "Coronary Disease" MONDO_0005010 "Disgenet " 12649 VAPB "amyotrophic lateral sclerosis type 8" MONDO:0012077 "ClinGen " 12649 VAPB ALS8 MONDO_0012077 "Disgenet " 12649 VAPB "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 12649 VAPB "Atrophy, Spinal Muscular" MONDO_0001516 "Disgenet " 12649 VAPB "SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE" MONDO_0008453 "Disgenet " 12651 VARS1 "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY" MONDO_0060621 "Disgenet " 12651 VARS1 "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy" MONDO:0060621 "ClinGen " 12663 VCAM1 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 12663 VCAM1 Hypercholesteremias "Disgenet " 12663 VCAM1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 12663 VCAM1 "High blood pressure" MONDO_0005044 "Disgenet " 12663 VCAM1 "Ulcerative colitis" MONDO_0005101 "Disgenet " 12663 VCAM1 "Cardiovascular Disease" MONDO_0004995 "Disgenet " 12663 VCAM1 "Anemia, Sickle Cell" MONDO_0011382 "Disgenet " 12663 VCAM1 Atherosclerosis MONDO_0005311 "Disgenet " 12663 VCAM1 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 12663 VCAM1 Arterioscleroses MONDO_0002277 "Disgenet " 12665 VCL "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 12665 VCL "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 12665 VCL "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 12665 VCL "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 12665 VCL Cardiomyopathy MONDO_0004994 "Disgenet " 12665 VCL CMD1W MONDO_0012667 "Disgenet " 12665 VCL CMH15 MONDO_0013200 "Disgenet " 12666 VCP FTDALS6 MONDO_0013501 "Disgenet " 12666 VCP "inclusion body myopathy with Paget disease of bone and frontotemporal dementia" MONDO:0000507 "ClinGen " 12666 VCP "Alzheimer Disease" MONDO_0012630 "Disgenet " 12666 VCP IBMPFD1 MONDO_0008178 "Disgenet " 12666 VCP "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Y" MONDO_0014735 "Disgenet " 12666 VCP "PAGET'S BONE DISEASE" MONDO_0005382 "Disgenet " 12666 VCP "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 12666 VCP "INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA" MONDO_0008178 "Disgenet " 12666 VCP "Lewy Body Disease" MONDO_0007488 "Disgenet " 12666 VCP "Charcot Marie Disease" MONDO_0011687 "Disgenet " 12666 VCP "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 12666 VCP "Inclusion Body Myositides" MONDO_0007827 "Disgenet " 12669 VDAC1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 12669 VDAC1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1268 TSPEAR "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 1268 TSPEAR DFNB98 MONDO_0013929 "Disgenet " 1268 TSPEAR ECTD14 MONDO_0032584 "Disgenet " 12680 VEGFA "congenital heart disease" MONDO:0005453 "ClinGen " 12680 VEGFA "Carcinoma, Pancreas Duct-Cell" MONDO_0005184 "Disgenet " 12680 VEGFA "Granulosa Cell Tumor" MONDO_0006036 "Disgenet " 12680 VEGFA "Status Epilepticus" MONDO_0002125 "Disgenet " 12680 VEGFA "Granulosa cell tumor, malignant" MONDO_0006036 "Disgenet " 12680 VEGFA "Pseudoxanthoma Elasticum" MONDO_0009925 "Disgenet " 12680 VEGFA "Occlusion, Retinal Vein" MONDO_0006951 "Disgenet " 12680 VEGFA "GRAVES DISEASE" MONDO_0005364 "Disgenet " 12680 VEGFA "Brain Injuries" MONDO_0043510 "Disgenet " 12680 VEGFA "Acoustic Neurilemmoma" MONDO_0001569 "Disgenet " 12680 VEGFA "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 12680 VEGFA "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 12680 VEGFA "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 12680 VEGFA "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 12680 VEGFA "EMD - Exudative macular degeneration" MONDO_0005417 "Disgenet " 12680 VEGFA hypernephroma MONDO_0005086 "Disgenet " 12680 VEGFA "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 12680 VEGFA "Macular oedema" MONDO_0003005 "Disgenet " 12680 VEGFA "Corneal Neovascularization" MONDO_0006713 "Disgenet " 12680 VEGFA Asthma MONDO_0004979 "Disgenet " 12680 VEGFA "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 12680 VEGFA "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 12680 VEGFA "Coronary Disease" MONDO_0005010 "Disgenet " 12680 VEGFA "congenital heart disorder" MONDO_0005453 "Disgenet " 12680 VEGFA "Gastric ulcer" MONDO_0001126 "Disgenet " 12680 VEGFA "Thrombotic microangiopathy" MONDO_0019737 "Disgenet " 12680 VEGFA "Cancer, Squamous Cell" MONDO_0002532 "Disgenet " 12680 VEGFA "Myeloid Leukemias" MONDO_0004643 "Disgenet " 12680 VEGFA "Cardiac Disease" MONDO_0005267 "Disgenet " 12680 VEGFA Glomerulonephritides MONDO_0002462 "Disgenet " 12680 VEGFA "Neurofibromatosis 2" MONDO_0007039 "Disgenet " 12680 VEGFA "Dysfunction, Erectile" MONDO_0005362 "Disgenet " 12680 VEGFA "Congestive heart failure" MONDO_0005252 "Disgenet " 12680 VEGFA Angiosarcomas MONDO_0016982 "Disgenet " 12680 VEGFA "Bipolar Disorders" MONDO_0004985 "Disgenet " 12680 VEGFA "Affective Disorders" MONDO_0005371 "Disgenet " 12680 VEGFA Rhabdomyosarcoma MONDO_0005212 "Disgenet " 12680 VEGFA "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 12680 VEGFA "High blood pressure" MONDO_0005044 "Disgenet " 12680 VEGFA "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 12680 VEGFA "Cervical Neoplasm" MONDO_0021230 "Disgenet " 12680 VEGFA "Multiple Myeloma" MONDO_0009693 "Disgenet " 12680 VEGFA Glioblastoma MONDO_0018177 "Disgenet " 12680 VEGFA Retinopathy MONDO_0005283 "Disgenet " 12680 VEGFA "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 12680 VEGFA "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 12680 VEGFA "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 12680 VEGFA Psoriases MONDO_0005083 "Disgenet " 12680 VEGFA "Alzheimer Disease" MONDO_0012630 "Disgenet " 12680 VEGFA "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 12680 VEGFA "Liver cell carcinoma" MONDO_0007256 "Disgenet " 12680 VEGFA "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 12680 VEGFA "Cord Injuries, Spinal" MONDO_0043797 "Disgenet " 12680 VEGFA "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 12680 VEGFA "Degeneration, Macular" MONDO_0003004 "Disgenet " 12680 VEGFA "Diseases, Lung" MONDO_0005275 "Disgenet " 12680 VEGFA "Unspecified chronic bronchitis" MONDO_0003781 "Disgenet " 12680 VEGFA "Temporal lobe epilepsy" MONDO_0005115 "Disgenet " 12680 VEGFA "treatment resistant depression" "Disgenet " 12680 VEGFA "Primary Glioblastoma" MONDO_0018177 "Disgenet " 12680 VEGFA Depression MONDO_0002050 "Disgenet " 12680 VEGFA "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 12680 VEGFA "Depressive neurosis" MONDO_0002050 "Disgenet " 12680 VEGFA "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 12680 VEGFA Atherosclerosis MONDO_0005311 "Disgenet " 12680 VEGFA Adenocarcinoma MONDO_0004970 "Disgenet " 12680 VEGFA "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 12680 VEGFA "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 12680 VEGFA "Hypertension, Portal" MONDO_0005080 "Disgenet " 12680 VEGFA "Brain Neoplasms" MONDO_0021211 "Disgenet " 12680 VEGFA "Head and Neck Neoplasms" MONDO_0005586 "Disgenet " 12680 VEGFA "Heart failure" MONDO_0005252 "Disgenet " 12680 VEGFA "Kawasaki's disease" MONDO_0012727 "Disgenet " 12680 VEGFA "Acute kidney injury" MONDO_0002492 "Disgenet " 12680 VEGFA "Disorder associated with diabetes mellitus" "Disgenet " 12680 VEGFA "Angiopathies, Diabetic" MONDO_0000960 "Disgenet " 12680 VEGFA "Diabetic Neuropathies" MONDO_0006626 "Disgenet " 12680 VEGFA "Chronic ischemic heart disease" MONDO_0005010 "Disgenet " 12681 VEGFB "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 12681 VEGFB "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 12681 VEGFB "Breast Neoplasms" MONDO_0021100 "Disgenet " 12682 VEGFC "Breast Neoplasms" MONDO_0021100 "Disgenet " 12682 VEGFC Melanoma MONDO_0005105 "Disgenet " 12682 VEGFC "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 12682 VEGFC Angiosarcomas MONDO_0016982 "Disgenet " 12684 VGF Obesity MONDO_0019182 "Disgenet " 12684 VGF Depression MONDO_0002050 "Disgenet " 12684 VGF "Depressive neurosis" MONDO_0002050 "Disgenet " 12684 VGF "Bipolar Disorders" MONDO_0004985 "Disgenet " 12691 EZR "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 12691 EZR Carcinoma MONDO_0004993 "Disgenet " 12692 VIM "Cataracts, pulverulent" MONDO_0011430 "Disgenet " 12692 VIM Atherosclerosis MONDO_0005311 "Disgenet " 12692 VIM Nephroses MONDO_0002331 "Disgenet " 12692 VIM "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 12692 VIM "Mesodermal mixed tumor" MONDO_0002928 "Disgenet " 12692 VIM "Mesothelioma, malignant" MONDO_0006292 "Disgenet " 12692 VIM "Breast Neoplasms" MONDO_0021100 "Disgenet " 12692 VIM "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 12692 VIM "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 12692 VIM Nephropathy MONDO_0005240 "Disgenet " 12692 VIM Synoviomas MONDO_0010434 "Disgenet " 12692 VIM CTRCT30 MONDO_0007286 "Disgenet " 12692 VIM "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 12692 VIM "Congenital cataract" MONDO_0008925 "Disgenet " 12692 VIM Carcinosarcoma MONDO_0002928 "Disgenet " 12693 VIP "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 12693 VIP "Bipolar Disorders" MONDO_0004985 "Disgenet " 12693 VIP "Acute Lung Injury" MONDO_0015796 "Disgenet " 12693 VIP Rhinitides MONDO_0003014 "Disgenet " 12693 VIP "Down Syndrome" MONDO_0008608 "Disgenet " 12693 VIP Schizophrenias MONDO_0005090 "Disgenet " 12693 VIP "Childhood autism" MONDO_0005260 "Disgenet " 12694 VIPR1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 12695 VIPR2 Schizophrenias MONDO_0005090 "Disgenet " 12698 VLDLR Schizophrenias MONDO_0005090 "Disgenet " 12698 VLDLR "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 12698 VLDLR "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1" MONDO:0024542 "ClinGen " 12698 VLDLR "Childhood autism" MONDO_0005260 "Disgenet " 12698 VLDLR Obesity MONDO_0019182 "Disgenet " 12698 VLDLR DES MONDO_0009133 "Disgenet " 12698 VLDLR "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 12698 VLDLR "Alzheimer Disease" MONDO_0012630 "Disgenet " 12698 VLDLR "Dysequilibrium syndrome" MONDO_0009133 "Disgenet " 12703 BEST1 "Macular dystrophy" "Disgenet " 12703 BEST1 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 12703 BEST1 "BEST1-related dominant retinopathy" MONDO:0700238 "ClinGen " 12703 BEST1 "rod cone dystrophy" MONDO_0015993 "Disgenet " 12703 BEST1 "Retinal dystrophy" MONDO_0019118 "Disgenet " 12703 BEST1 RP50 MONDO_0013175 "Disgenet " 12703 BEST1 AOFMD MONDO_0024561 "Disgenet " 12703 BEST1 BESTROPHINOPATHY MONDO_0012733 "Disgenet " 12703 BEST1 ARB MONDO_0012733 "Disgenet " 12703 BEST1 "Degeneration, Macular" MONDO_0003004 "Disgenet " 12703 BEST1 Nanophthalmia MONDO_0005514 "Disgenet " 12703 BEST1 ADVIRC MONDO_0008662 "Disgenet " 12703 BEST1 "vitelliform dystrophy (diagnosis)" MONDO_0000390 "Disgenet " 12703 BEST1 BMD MONDO_0000390 "Disgenet " 12705 VNN1 "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 12712 VPS33B "ARC syndrome" MONDO_0017123 "Disgenet " 12712 VPS33B Arthrogryposes MONDO_0015168 "Disgenet " 12712 VPS33B ARCS MONDO_0017123 "Disgenet " 12712 VPS33B "arthrogryposis, renal dysfunction, and cholestasis 1" MONDO:0008822 "ClinGen " 12712 VPS33B "Bile Duct Obstructions" MONDO_0001751 "Disgenet " 12713 VPS41 SCAR29 MONDO_0030312 "Disgenet " 12716 TRPV1 Esophagitides MONDO_0001409 "Disgenet " 12716 TRPV1 Obesity MONDO_0019182 "Disgenet " 12716 TRPV1 "MIGRAINE HEADACHE" MONDO_0005277 "Disgenet " 12718 VRK1 "Atrophy, Spinal Muscular" MONDO_0001516 "Disgenet " 12718 VRK1 "PCH1 - pontocerebellar hypoplasia type 1" MONDO_0016396 "Disgenet " 12718 VRK1 "Pontocerebellar Hypoplasia Type 1" MONDO_0011866 "Disgenet " 12718 VRK1 "Distal spinal muscular atrophy" MONDO_0001516 "Disgenet " 12718 VRK1 "Pontocerebellar hypoplasia" MONDO_0020135 "Disgenet " 12719 VRK2 Schizophrenias MONDO_0005090 "Disgenet " 12722 VSNL1 Schizophrenias MONDO_0005090 "Disgenet " 12722 VSNL1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 12723 VSX1 PPCD MONDO_0020364 "Disgenet " 12723 VSX1 Keratoconus MONDO_0015486 "Disgenet " 12723 VSX1 PPCD1 MONDO_0007378 "Disgenet " 12723 VSX1 "Corneal Dystrophies, Hereditary" MONDO_0012199 "Disgenet " 12723 VSX1 "Corneal dystrophy" MONDO_0018102 "Disgenet " 12724 VTN "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 12726 VWF "Congestive heart failure" MONDO_0005252 "Disgenet " 12726 VWF "Cancer, Breast" MONDO_0007254 "Disgenet " 12726 VWF Thrombocytopenia MONDO_0002049 "Disgenet " 12726 VWF "von Willebrand Disease, Type 2B" MONDO_0015629 "Disgenet " 12726 VWF "Hemophilia A" MONDO_0010602 "Disgenet " 12726 VWF "Cardiovascular Disease" MONDO_0004995 "Disgenet " 12726 VWF "Atrial Fibrillation" MONDO_0004981 "Disgenet " 12726 VWF "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 12726 VWF "Idiopathic thrombocythemia" MONDO_0005029 "Disgenet " 12726 VWF "VON WILLEBRAND DISEASE, TYPE 2M" MONDO_0015630 "Disgenet " 12726 VWF "von Willebrand Disease, Type 2A" MONDO_0015628 "Disgenet " 12726 VWF "von Willebrand Disease, Type 3" MONDO_0010191 "Disgenet " 12726 VWF Angiohemophilias MONDO_0013622 "Disgenet " 12726 VWF "von Willebrand Disease, Type 1" MONDO_0008668 "Disgenet " 12726 VWF "von Willebrand Disease, Type 2" MONDO_0013304 "Disgenet " 12726 VWF "High blood pressure" MONDO_0005044 "Disgenet " 12726 VWF "Heart failure" MONDO_0005252 "Disgenet " 12726 VWF "Bernard Soulier Syndrome" MONDO_0009276 "Disgenet " 12726 VWF "von Willebrand Disease, Type 2N" MONDO_0015631 "Disgenet " 12726 VWF "von Willebrand disease type 2B" MONDO:0015629 "ClinGen " 12726 VWF "hereditary von Willebrand disease" MONDO:0019565 "ClinGen " 12726 VWF "alcohol use disorders" MONDO_0002046 "Disgenet " 12726 VWF "Behcet Syndrome" MONDO_0007191 "Disgenet " 12729 WARS1 "Distal spinal muscular atrophy" MONDO_0001516 "Disgenet " 12729 WARS1 "Developmental delay" "Disgenet " 12729 WARS1 "NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IX" MONDO_0060585 "Disgenet " 12729 WARS1 "distal hereditary motor neuropathy" MONDO:0018894 "ClinGen " 12730 WARS2 "mitochondrial disease" MONDO:0044970 "ClinGen " 12730 WARS2 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 12731 WAS Thrombocytopenia MONDO_0002049 "Disgenet " 12731 WAS "NEUTROPENIA, SEVERE CONGENITAL, X-LINKED" MONDO_0010294 "Disgenet " 12731 WAS "X-linked severe congenital neutropenia" MONDO:0010294 "ClinGen " 12731 WAS "Wiskott-Aldrich syndrome" MONDO:0010518 "ClinGen " 12731 WAS XLT MONDO_0100241 "Disgenet " 12731 WAS "Wiskott Aldrich Syndrome" MONDO_0010518 "Disgenet " 12732 WASF1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 12734 WASF3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 12736 WIPF1 "Wiskott-Aldrich syndrome 2" MONDO:0013779 "ClinGen " 12736 WIPF1 "Wiskott Aldrich Syndrome" MONDO_0010518 "Disgenet " 12736 WIPF1 "WISKOTT-ALDRICH SYNDROME 2" MONDO_0013779 "Disgenet " 12738 WBP2 DFNB107 MONDO_0033199 "Disgenet " 12738 WBP2 "hearing loss, autosomal recessive" MONDO:0019588 "ClinGen " 12744 MLXIPL "Coronary Disease" MONDO_0005010 "Disgenet " 12744 MLXIPL "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 12744 MLXIPL "Liver cell carcinoma" MONDO_0007256 "Disgenet " 12744 MLXIPL "Syndrome, Williams" MONDO_0008678 "Disgenet " 12749 LAT2 "Syndrome, Williams" MONDO_0008678 "Disgenet " 12754 WDR1 "Lazy Leukocyte Syndrome" MONDO_0007883 "Disgenet " 12756 WDR4 "MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS" MONDO_0032690 "Disgenet " 12756 WDR4 "Microcephaly nephrosis syndrome" MONDO_0009627 "Disgenet " 12757 WDR5 "congenital heart disease" MONDO:0005453 "ClinGen " 12760 BRWD1 "primary ciliary dyskinesia" MONDO:0016575 "ClinGen " 12760 BRWD1 agammaglobulinemia MONDO:0015977 "ClinGen " 12761 WEE1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 12761 WEE1 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 12762 WFS1 "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 12762 WFS1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 12762 WFS1 "Affective Disorders" MONDO_0005371 "Disgenet " 12762 WFS1 Hypoacusis MONDO_0005365 "Disgenet " 12762 WFS1 "Wolfram-like syndrome" MONDO:0013673 "ClinGen " 12762 WFS1 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 12762 WFS1 "Wolfram syndrome" MONDO:0018105 "ClinGen " 12762 WFS1 "Monogenic diabetes" MONDO_0015967 "Disgenet " 12762 WFS1 "Wolfram-like syndrome" MONDO_0013673 "Disgenet " 12762 WFS1 Depression MONDO_0002050 "Disgenet " 12762 WFS1 "WOLFRAM SYNDROME 1" MONDO_0009101 "Disgenet " 12762 WFS1 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 12762 WFS1 "Atrophy, Optic" MONDO_0003608 "Disgenet " 12762 WFS1 "WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT" MONDO_0013673 "Disgenet " 12762 WFS1 "Congenital cataract" MONDO_0008925 "Disgenet " 12762 WFS1 "Syndrome, Wolfram" MONDO_0018105 "Disgenet " 12762 WFS1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 12762 WFS1 "OPTIC ATROPHY 1" MONDO_0020250 "Disgenet " 12762 WFS1 "Isolated Deafness" MONDO_0019497 "Disgenet " 12762 WFS1 "Depressive neurosis" MONDO_0002050 "Disgenet " 12762 WFS1 DFNA38 MONDO_0010963 "Disgenet " 12762 WFS1 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 12762 WFS1 CTRCT41 MONDO_0007287 "Disgenet " 12766 NSD2 "syndromic intellectual disability" MONDO:0000508 "ClinGen " 12766 NSD2 "Global developmental delay" "Disgenet " 12766 NSD2 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 12766 NSD2 "Deletion of short arm of chromosome 4" MONDO_0008684 "Disgenet " 12766 NSD2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 12766 NSD2 ALL MONDO_0004967 "Disgenet " 12767 NSD3 "Carcinoma with t(15;19)(q13;p13.1) Translocation" MONDO_0005563 "Disgenet " 12775 WNT10B "Breast Neoplasms" MONDO_0021100 "Disgenet " 12775 WNT10B Oligodontia MONDO_0008797 "Disgenet " 12775 WNT10B SHFM6 MONDO_0009157 "Disgenet " 12775 WNT10B Obesity MONDO_0019182 "Disgenet " 12775 WNT10B Ectrodactyly MONDO_0016576 "Disgenet " 12776 WNT11 "malignant squamous cell neoplasm of oral cavity (diagnosis)" MONDO_0004958 "Disgenet " 12778 WNT9A "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 12780 WNT2 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 12780 WNT2 "Childhood autism" MONDO_0005260 "Disgenet " 12780 WNT2 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 12780 WNT2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 12784 WNT5A "Robinow Syndrome, Autosomal Dominant" MONDO_0008389 "Disgenet " 12784 WNT5A "Lung Neoplasm" MONDO_0002732 "Disgenet " 12784 WNT5A "autosomal dominant Robinow syndrome" MONDO:0008389 "ClinGen " 12784 WNT5A DRS1 MONDO_0024455 "Disgenet " 12784 WNT5A "Fibrosing alveolitis" MONDO_0800029 "Disgenet " 12784 WNT5A "Cervical Neoplasm" MONDO_0021230 "Disgenet " 12784 WNT5A "Robinow Syndrome" MONDO_0019978 "Disgenet " 12786 WNT7A "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 12786 WNT7A "FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY" MONDO_0009232 "Disgenet " 12786 WNT7A LPHAS MONDO_0010164 "Disgenet " 12787 WNT7B PMD MONDO_0011010 "Disgenet " 12791 WRN Cataracts MONDO_0005129 "Disgenet " 12791 WRN "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 12791 WRN "Senile cataract" MONDO_0004847 "Disgenet " 12791 WRN "Werner syndrome" MONDO:0010196 "ClinGen " 12791 WRN CRC MONDO_0005335 "Disgenet " 12791 WRN "Werner Syndrome" MONDO_0010196 "Disgenet " 12791 WRN "Aging, Premature" MONDO_0019303 "Disgenet " 12791 WRN "Cancer, Breast" MONDO_0007254 "Disgenet " 12791 WRN "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 12796 WT1 "Wilms tumor 1" MONDO:0008679 "ClinGen " 12796 WT1 "Denys-Drash syndrome" MONDO:0008682 "ClinGen " 12796 WT1 "Mesothelioma, malignant" MONDO_0006292 "Disgenet " 12796 WT1 Aniridia MONDO_0007119 "Disgenet " 12796 WT1 Leukemias MONDO_0005059 "Disgenet " 12796 WT1 "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 12796 WT1 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 12796 WT1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 12796 WT1 "MEACHAM SYNDROME" MONDO_0012164 "Disgenet " 12796 WT1 "Chronic renal disease" MONDO_0005300 "Disgenet " 12796 WT1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 12796 WT1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 12796 WT1 "Genitalia external ambiguous" MONDO_0002145 "Disgenet " 12796 WT1 "Primary ovarian failure" MONDO_0005387 "Disgenet " 12796 WT1 "Nephrotic syndrome, steroid-resistant" MONDO_0005377 "Disgenet " 12796 WT1 "Diaphragmatic Hernias" MONDO_0005711 "Disgenet " 12796 WT1 NPHS4 MONDO_0009733 "Disgenet " 12796 WT1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 12796 WT1 "Childhood Renal Wilms' Tumor" MONDO_0024676 "Disgenet " 12796 WT1 Nephroblastoma MONDO_0019004 "Disgenet " 12796 WT1 "DENYS-DRASH SYNDROME" MONDO_0008682 "Disgenet " 12796 WT1 "FRASIER SYNDROME" MONDO_0007635 "Disgenet " 12796 WT1 DSRCT MONDO_0019373 "Disgenet " 12796 WT1 Glioblastoma MONDO_0018177 "Disgenet " 12796 WT1 "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 12796 WT1 "Gonadal Dysgenesis" MONDO_0001967 "Disgenet " 12796 WT1 Mesothelioma MONDO_0005065 "Disgenet " 12796 WT1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 12796 WT1 "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 12796 WT1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 12796 WT1 Nephropathy MONDO_0005240 "Disgenet " 12796 WT1 "WAGR Syndrome" MONDO_0008681 "Disgenet " 12796 WT1 "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 12799 WWOX Epilepsies MONDO_0005027 "Disgenet " 12799 WWOX "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 12799 WWOX "developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 12799 WWOX "Cancer, Squamous Cell" MONDO_0002532 "Disgenet " 12799 WWOX "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 12799 WWOX "Developmental delay" "Disgenet " 12799 WWOX "Alzheimer Disease" MONDO_0012630 "Disgenet " 12799 WWOX "Global developmental delay" "Disgenet " 12799 WWOX "epileptic encephalopathy" "Disgenet " 12799 WWOX "Ataxia, Spinocerebellar" MONDO_0000437 "Disgenet " 12799 WWOX "Early infantile epileptic encephalopathy with burst-suppression" MONDO_0100062 "Disgenet " 12799 WWOX "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 12799 WWOX "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12" MONDO_0013687 "Disgenet " 12799 WWOX EIEE28 MONDO_0014533 "Disgenet " 12799 WWOX "Breast Neoplasms" MONDO_0021100 "Disgenet " 12799 WWOX "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 12799 WWOX "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 12801 XBP1 "Cancer, Breast" MONDO_0007254 "Disgenet " 12801 XBP1 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 12801 XBP1 "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 12801 XBP1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 12801 XBP1 Gliomas MONDO_0021042 "Disgenet " 12801 XBP1 Schizophrenias MONDO_0005090 "Disgenet " 12805 XDH "High blood pressure" MONDO_0005044 "Disgenet " 12805 XDH "XANTHINURIA, TYPE II" MONDO_0011346 "Disgenet " 12805 XDH "Congestive heart failure" MONDO_0005252 "Disgenet " 12805 XDH "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 12805 XDH "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 12805 XDH "Heart failure" MONDO_0005252 "Disgenet " 12805 XDH "Cancer, Breast" MONDO_0007254 "Disgenet " 12805 XDH "Damage, Reperfusion" MONDO_0005203 "Disgenet " 12805 XDH Gout MONDO_0005393 "Disgenet " 12805 XDH "Cardiovascular Disease" MONDO_0004995 "Disgenet " 12805 XDH Hyperuricemia "Disgenet " 12805 XDH "xanthinuria (diagnosis)" MONDO_0018106 "Disgenet " 12805 XDH "XANTHINURIA, TYPE I" MONDO_0018106 "Disgenet " 12814 XPA "XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A" MONDO_0010210 "Disgenet " 12814 XPA "Kaposis Disease" MONDO_0010215 "Disgenet " 12814 XPA "Liver Neoplasm" MONDO_0002691 "Disgenet " 12814 XPA "Neoplasm, Skin" MONDO_0002531 "Disgenet " 12814 XPA "Cancer, Ovarian" MONDO_0008170 "Disgenet " 12814 XPA "xeroderma pigmentosum group A" MONDO:0010210 "ClinGen " 12816 XPC "xeroderma pigmentosum group C" MONDO:0010211 "ClinGen " 12816 XPC "Liver Neoplasm" MONDO_0002691 "Disgenet " 12816 XPC "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 12816 XPC "Cancer, Ovarian" MONDO_0008170 "Disgenet " 12816 XPC "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 12816 XPC "Lung Neoplasm" MONDO_0002732 "Disgenet " 12816 XPC XP3 MONDO_0010211 "Disgenet " 12816 XPC "Kaposis Disease" MONDO_0010215 "Disgenet " 12825 XPO1 "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 12825 XPO1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 12825 XPO1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 12825 XPO1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 12825 XPO1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 12827 XPR1 BSPDC MONDO_0008947 "Disgenet " 12828 XRCC1 Mesothelioma MONDO_0005065 "Disgenet " 12828 XRCC1 "Infertility, Male" MONDO_0005372 "Disgenet " 12828 XRCC1 Schizophrenias MONDO_0005090 "Disgenet " 12828 XRCC1 Stomatitides MONDO_0004842 "Disgenet " 12828 XRCC1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 12828 XRCC1 CRC MONDO_0005335 "Disgenet " 12828 XRCC1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 12828 XRCC1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 12828 XRCC1 "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26" MONDO_0033116 "Disgenet " 12828 XRCC1 "Glioma, malignant" MONDO_0100342 "Disgenet " 12828 XRCC1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 12828 XRCC1 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 12828 XRCC1 "Malignant neoplasm of cervix uteri" MONDO_0002974 "Disgenet " 12828 XRCC1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 12828 XRCC1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 12828 XRCC1 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 12828 XRCC1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 12828 XRCC1 "carcinoma of stomach (diagnosis)" MONDO_0004950 "Disgenet " 12828 XRCC1 ALL MONDO_0004967 "Disgenet " 12828 XRCC1 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 12828 XRCC1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 12828 XRCC1 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 12828 XRCC1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 12828 XRCC1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 12828 XRCC1 Gliomas MONDO_0021042 "Disgenet " 12828 XRCC1 "Senile cataract" MONDO_0004847 "Disgenet " 12828 XRCC1 "Malignant neoplasm of nasopharynx" MONDO_0015459 "Disgenet " 12828 XRCC1 "Cancer, Nasopharyngeal" MONDO_0015459 "Disgenet " 12828 XRCC1 "High blood pressure" MONDO_0005044 "Disgenet " 12828 XRCC1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 12828 XRCC1 "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 12828 XRCC1 "Gallbladder Neoplasm" MONDO_0005411 "Disgenet " 12828 XRCC1 "Malignant neoplasm of gallbladder" MONDO_0005411 "Disgenet " 12828 XRCC1 "Gastric Cardia Cancer" MONDO_0003834 "Disgenet " 12828 XRCC1 "Hepatitis B" MONDO_0005344 "Disgenet " 12828 XRCC1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 12828 XRCC1 Meningiomas MONDO_0016642 "Disgenet " 12828 XRCC1 "Laryngeal carcinoma" MONDO_0002358 "Disgenet " 12828 XRCC1 "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 12828 XRCC1 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 12828 XRCC1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 12829 XRCC2 "hereditary breast carcinoma" MONDO:0016419 "ClinGen " 12829 XRCC2 "familial ovarian cancer" MONDO:0016248 "ClinGen " 12829 XRCC2 "Fanconi anemia complementation group U" MONDO:0014987 "ClinGen " 12829 XRCC2 "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 12829 XRCC2 "Fanconi Anemia" MONDO_0019391 "Disgenet " 12829 XRCC2 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 12829 XRCC2 "familial cancer of breast" MONDO_0016419 "Disgenet " 12829 XRCC2 FANCU MONDO_0014987 "Disgenet " 12829 XRCC2 POF17 MONDO_0030870 "Disgenet " 12829 XRCC2 SPGF50 MONDO_0030869 "Disgenet " 12829 XRCC2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 12829 XRCC2 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 12830 XRCC3 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 12830 XRCC3 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 12830 XRCC3 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 12830 XRCC3 "Head and Neck Neoplasms" MONDO_0005586 "Disgenet " 12830 XRCC3 "Multiple Myeloma" MONDO_0009693 "Disgenet " 12830 XRCC3 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 12830 XRCC3 "Cancer, Breast" MONDO_0007254 "Disgenet " 12830 XRCC3 Gliomas MONDO_0021042 "Disgenet " 12830 XRCC3 "Breast Neoplasms" MONDO_0021100 "Disgenet " 12831 XRCC4 Schizophrenias MONDO_0005090 "Disgenet " 12831 XRCC4 "hereditary nonpolyposis colon cancer" MONDO:0018630 "ClinGen " 12831 XRCC4 "Multiple Myeloma" MONDO_0009693 "Disgenet " 12831 XRCC4 "PITUITARY DWARFISM I" MONDO_0000050 "Disgenet " 12840 YARS1 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 12840 YARS1 "CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C" MONDO_0012012 "Disgenet " 12840 YARS1 "Charcot-Marie-Tooth disease" MONDO:0015626 "ClinGen " 12840 YARS1 "Global developmental delay" "Disgenet " 12843 YME1L1 "mitochondrial disease" MONDO:0044970 "ClinGen " 12843 YME1L1 "optic atrophy 11" MONDO:0015011 "ClinGen " 12843 YME1L1 OPA11 MONDO_0015011 "Disgenet " 12851 YWHAE "Sarcoma, Endometrial Stromal" MONDO_0006745 "Disgenet " 12851 YWHAE Schizophrenias MONDO_0005090 "Disgenet " 12851 YWHAE "Bipolar Disorders" MONDO_0004985 "Disgenet " 12851 YWHAE "MILLER-DIEKER LISSENCEPHALY SYNDROME" MONDO_0013415 "Disgenet " 12852 YWHAG EIEE56 MONDO_0033365 "Disgenet " 12852 YWHAG "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 12855 YWHAZ "Bipolar Disorders" MONDO_0004985 "Disgenet " 12858 ZAP70 "Zeta-associated-protein 70 deficiency" MONDO_0010023 "Disgenet " 12858 ZAP70 "Combined immunodeficiencies" MONDO_0015131 "Disgenet " 12858 ZAP70 "Deficiency Syndrome, Immunological" MONDO_0021094 "Disgenet " 12858 ZAP70 "combined immunodeficiency due to ZAP70 deficiency" MONDO:0010023 "ClinGen " 12858 ZAP70 "Combined Immunodeficiencies, Severe" MONDO_0015974 "Disgenet " 12862 ZFP36 Arthritides MONDO_0005578 "Disgenet " 12862 ZFP36 Dermatitides MONDO_0002406 "Disgenet " 12862 ZFP36 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 12869 ZFX "X-linked syndromic complex neurodevelopmental disorder" MONDO:1040018 "ClinGen " 12872 ZIC1 "craniosynostosis 6" MONDO:0014705 "ClinGen " 12872 ZIC1 "Dandy Walker Syndrome" MONDO_0009072 "Disgenet " 12872 ZIC1 Craniosynostosis MONDO_0015469 "Disgenet " 12872 ZIC1 CRS6 MONDO_0014705 "Disgenet " 12874 ZIC3 "Inversus, Situs" MONDO_0010029 "Disgenet " 12874 ZIC3 VACTERLX MONDO_0010752 "Disgenet " 12874 ZIC3 "heterotaxia syndrome" MONDO_0018677 "Disgenet " 12874 ZIC3 "HETEROTAXY, VISCERAL, 1, X-LINKED" MONDO_0018677 "Disgenet " 12876 SLC39A1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 12877 ZMPSTE24 "Mandibuloacral dysostosis" MONDO_0016584 "Disgenet " 12877 ZMPSTE24 "Hutchinson Gilford Syndrome" MONDO_0008310 "Disgenet " 12877 ZMPSTE24 "Lethal tight skin contracture syndrome (disorder)" MONDO_0031213 "Disgenet " 12877 ZMPSTE24 "mandibuloacral dysplasia with type B lipodystrophy" MONDO:0012074 "ClinGen " 12877 ZMPSTE24 "obsolete lethal restrictive dermopathy" MONDO:0010143 "ClinGen " 12877 ZMPSTE24 "Acro-Osteolysis Syndrome" MONDO_0007057 "Disgenet " 12877 ZMPSTE24 "MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY" MONDO_0012074 "Disgenet " 12877 ZMPSTE24 Lipodystrophies MONDO_0006573 "Disgenet " 129 ACTA1 NEM3 MONDO_0008070 "Disgenet " 129 ACTA1 "Myopathies, Nemaline" MONDO_0018958 "Disgenet " 129 ACTA1 "Congenital myopathies" MONDO_0013177 "Disgenet " 129 ACTA1 Myopathy MONDO_0003939 "Disgenet " 129 ACTA1 alpha-actinopathy MONDO:0100084 "ClinGen " 129 ACTA1 alpha-actinopathy MONDO:0100084 "ClinGen " 129 ACTA1 "Intranuclear Nemaline Rod Myopathy" MONDO_0008070 "Disgenet " 129 ACTA1 "Neuromuscular Disease" MONDO_0019056 "Disgenet " 129 ACTA1 CFTD MONDO_0800341 "Disgenet " 129 ACTA1 "CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT" MONDO_0859523 "Disgenet " 129 ACTA1 CMYP2B MONDO_0859517 "Disgenet " 12927 ZNF142 "Global developmental delay" "Disgenet " 12927 ZNF142 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 12928 ZNF143 "methylmalonic aciduria and homocystinuria" MONDO:0016826 "ClinGen " 12929 PCGF2 "turnpenny-fry syndrome" MONDO:0032707 "ClinGen " 12929 PCGF2 "TURNPENNY-FRY SYNDROME" MONDO_0032707 "Disgenet " 12930 ZBTB16 "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 12930 ZBTB16 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 12933 ZNF148 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 12949 VEZF1 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 12989 ZMYM2 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 130 ACTA2 "familial thoracic aortic aneurysm and aortic dissection" MONDO:0019625 "ClinGen " 130 ACTA2 "multisystemic smooth muscle dysfunction syndrome" MONDO:0013452 "ClinGen " 130 ACTA2 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 130 ACTA2 "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 130 ACTA2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 130 ACTA2 "Connective Tissue Diseases" MONDO_0003900 "Disgenet " 130 ACTA2 "Moyamoya Disease" MONDO_0016820 "Disgenet " 130 ACTA2 "Familial TAAD (thoracic aortic aneurysm aortic dissection)" MONDO_0019625 "Disgenet " 130 ACTA2 "MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME" MONDO_0013452 "Disgenet " 130 ACTA2 "Aortic Aneurysm, Thoracic" MONDO_0005396 "Disgenet " 13009 ZNF217 CRC MONDO_0005335 "Disgenet " 1301 CFAP298 CILD26 MONDO_0014211 "Disgenet " 1301 CFAP298 "primary ciliary dyskinesia 26" MONDO:0014211 "ClinGen " 1301 CFAP298 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 13013 KAT6A "Global developmental delay" "Disgenet " 13013 KAT6A "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 13013 KAT6A "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 13013 KAT6A "MRD32, FORMERLY" MONDO_0014558 "Disgenet " 13013 KAT6A "syndromic intellectual disability" MONDO:0000508 "ClinGen " 13013 KAT6A "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 13030 ZBTB18 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 13030 ZBTB18 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 1304 MRAP "GLUCOCORTICOID DEFICIENCY 1" MONDO_0011826 "Disgenet " 1304 MRAP "GLUCOCORTICOID DEFICIENCY 2" MONDO_0011826 "Disgenet " 1304 MRAP "Familial Glucocorticoid Deficiency" MONDO_0008733 "Disgenet " 13054 ZMYM3 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 13075 ZNF281 "Cancer, Breast" MONDO_0007254 "Disgenet " 13081 SCAPER "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 13081 SCAPER "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 13094 RNF114 Psoriases MONDO_0005083 "Disgenet " 13107 ZNF41 "non-syndromic X-linked intellectual disability" MONDO:0019181 "ClinGen " 13107 ZNF41 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 13128 ZNF711 MRX97 MONDO_0010430 "Disgenet " 13128 ZNF711 "X-linked complex neurodevelopmental disorder" MONDO:0100148 "ClinGen " 13128 ZNF711 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 13144 ZNF74 Schizophrenias MONDO_0005090 "Disgenet " 1316 EML4 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 1316 EML4 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 13164 CNBP DM2 MONDO_0011266 "Disgenet " 13177 IKZF2 "human T cell leukemia" MONDO_0019471 "Disgenet " 13177 IKZF2 ALL MONDO_0004967 "Disgenet " 13177 IKZF2 "HELIOS deficiency" MONDO:0800139 "ClinGen " 13178 IKZF3 "immunodeficiency 84" MONDO:0030333 "ClinGen " 13178 IKZF3 "IMMUNODEFICIENCY 84" MONDO_0030333 "Disgenet " 13178 IKZF3 Asthma MONDO_0004979 "Disgenet " 13178 IKZF3 "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 13178 IKZF3 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 13178 IKZF3 "Deficiency Syndrome, Immunological" MONDO_0021094 "Disgenet " 13178 IKZF3 ALL MONDO_0004967 "Disgenet " 1318 C3 "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 1318 C3 "C3 DEFICIENCY" MONDO_0013417 "Disgenet " 1318 C3 "Alzheimer Disease" MONDO_0012630 "Disgenet " 1318 C3 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 1318 C3 "Glomerulonephritides, Lupus" MONDO_0005556 "Disgenet " 1318 C3 "Purpura, Schoenlein Henoch" MONDO_0019167 "Disgenet " 1318 C3 "Non-Shiga-Like Toxin-Associated HUSs" MONDO_0016244 "Disgenet " 1318 C3 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 1318 C3 "Degeneration, Macular" MONDO_0003004 "Disgenet " 1318 C3 Asthma MONDO_0004979 "Disgenet " 1318 C3 "Ulcerative colitis" MONDO_0005101 "Disgenet " 1318 C3 "Marchiafava Micheli Syndrome" MONDO_0100244 "Disgenet " 1318 C3 "atypical hemolytic-uremic syndrome with C3 anomaly" MONDO:0013043 "ClinGen " 1318 C3 "C3 glomerulonephritis" MONDO:0013892 "ClinGen " 1318 C3 "Glomerulonephritides, Membranous" MONDO_0005376 "Disgenet " 1318 C3 "Acute kidney injury" MONDO_0002492 "Disgenet " 1318 C3 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 1318 C3 "EMD - Exudative macular degeneration" MONDO_0005417 "Disgenet " 13182 POLR1H "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 13189 ZP3 "Empty follicle syndrome" "Disgenet " 1319 C3AR1 Asthma MONDO_0004979 "Disgenet " 13195 ZWINT "Liver cell carcinoma" MONDO_0007256 "Disgenet " 132 ACTB BRWS1 MONDO_0017579 "Disgenet " 132 ACTB "Lung Neoplasm" MONDO_0002732 "Disgenet " 132 ACTB "Abnormalities, Craniofacial" "Disgenet " 132 ACTB Carcinoma MONDO_0004993 "Disgenet " 132 ACTB Dystonia MONDO_0003441 "Disgenet " 132 ACTB "Baraitser-Winter cerebrofrontofacial syndrome" MONDO_0017579 "Disgenet " 132 ACTB Schizophrenias MONDO_0005090 "Disgenet " 132 ACTB "Bipolar Disorders" MONDO_0004985 "Disgenet " 132 ACTB "Cerebrooculofacial Lymphatic Syndrome" MONDO_0017579 "Disgenet " 132 ACTB "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 132 ACTB "Liver cell carcinoma" MONDO_0007256 "Disgenet " 132 ACTB Thrombocytopenia MONDO_0002049 "Disgenet " 132 ACTB "DYSTONIA, JUVENILE-ONSET" MONDO_0011823 "Disgenet " 132 ACTB "ACTB-associated syndromic thrombocytopenia" MONDO:0100433 "ClinGen " 132 ACTB "Baraitser-Winter cerebrofrontofacial syndrome" MONDO:0017579 "ClinGen " 13201 ADAMTS10 "WEILL-MARCHESANI SYNDROME 1" MONDO_0018096 "Disgenet " 13201 ADAMTS10 "Weill-Marchesani Syndrome, Autosomal Recessive" MONDO_0018096 "Disgenet " 13201 ADAMTS10 "Weill-Marchesani syndrome" MONDO_0018096 "Disgenet " 13202 ADAMTS9 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 13202 ADAMTS9 ciliopathy MONDO:0005308 "ClinGen " 13202 ADAMTS9 Nephronophthisis MONDO_0019005 "Disgenet " 13202 ADAMTS9 Ciliopathies MONDO_0005308 "Disgenet " 13209 ARHGEF5 "Lung Neoplasm" MONDO_0002732 "Disgenet " 1321 TIMMDC1 "mitochondrial disease" MONDO:0044970 "ClinGen " 1321 TIMMDC1 "Leigh syndrome" MONDO:0009723 "ClinGen " 13210 ARL6 "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 13210 ARL6 RP55 MONDO_0013312 "Disgenet " 13210 ARL6 "Bardet-Biedl syndrome 3" MONDO_0010832 "Disgenet " 13211 ATP2C1 "Benign Familial Pemphigus" MONDO_0013755 "Disgenet " 13221 BCL11A "Dias-Logan syndrome" MONDO:0014914 "ClinGen " 13221 BCL11A Schizophrenias MONDO_0005090 "Disgenet " 13221 BCL11A "Global developmental delay" "Disgenet " 13221 BCL11A "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 13221 BCL11A "Cancer, Breast" MONDO_0007254 "Disgenet " 13221 BCL11A Apraxia MONDO_0000665 "Disgenet " 13221 BCL11A "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 13221 BCL11A "INTELLECTUAL DEVELOPMENTAL DISORDER WITH HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN" MONDO_0014914 "Disgenet " 13221 BCL11A beta-Thalassemia MONDO_0013517 "Disgenet " 13221 BCL11A "Anemia, Sickle Cell" MONDO_0011382 "Disgenet " 13222 BCL11B "intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities" MONDO:0060763 "ClinGen " 13222 BCL11B IDDSFTA MONDO_0060763 "Disgenet " 13222 BCL11B "IMMUNODEFICIENCY 49" MONDO_0014981 "Disgenet " 13222 BCL11B "lymphoid neoplasm" MONDO_0005157 "Disgenet " 13222 BCL11B "Leukemia, T Cell" MONDO_0004963 "Disgenet " 13222 BCL11B Lymphomas MONDO_0005062 "Disgenet " 1323 C4A "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 1323 C4A Vitiligo MONDO_0008661 "Disgenet " 1323 C4A "GRAVES DISEASE" MONDO_0005364 "Disgenet " 13233 ANP32A "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 13236 URI1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 1324 C4B "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 1324 C4B "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 1324 C4B "Childhood autism" MONDO_0005260 "Disgenet " 1324 C4B "GRAVES DISEASE" MONDO_0005364 "Disgenet " 13243 LMBR1 TPT "Disgenet " 13243 LMBR1 "TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME" MONDO_0017454 "Disgenet " 13243 LMBR1 ACHEIROPODY MONDO_0008700 "Disgenet " 13243 LMBR1 "SYNDACTYLY, TYPE IV" MONDO_0008515 "Disgenet " 13251 CDH22 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 13254 FTSJ1 MRX9 MONDO_0010660 "Disgenet " 13254 FTSJ1 "X-linked complex neurodevelopmental disorder" MONDO:0100148 "ClinGen " 13254 FTSJ1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 13273 DUOX2 "Congenital hypothyroidism" MONDO_0010142 "Disgenet " 13273 DUOX2 "thyroid dyshormonogenesis" MONDO_0010132 "Disgenet " 13273 DUOX2 TDH6 MONDO_0011792 "Disgenet " 13281 ESPN DFNB36 MONDO_0012170 "Disgenet " 13281 ESPN "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 13281 ESPN "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 1329 SLC30A9 "psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome" MONDO:0044726 "ClinGen " 1330 MYOZ2 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 1330 MYOZ2 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 1330 MYOZ2 CMH16 MONDO_0013455 "Disgenet " 1331 C5 "Marchiafava Micheli Syndrome" MONDO_0100244 "Disgenet " 1331 C5 Neutropenia MONDO_0001475 "Disgenet " 1331 C5 "COMPLEMENT COMPONENT 5 DEFICIENCY" MONDO_0012295 "Disgenet " 1331 C5 Asthma MONDO_0004979 "Disgenet " 1331 C5 Pneumonia MONDO_0005249 "Disgenet " 13310 GPRC5D "MAJOR AFFECTIVE DISORDER 2" MONDO_0010648 "Disgenet " 13310 GPRC5D "Bipolar Disorders" MONDO_0004985 "Disgenet " 13312 GSTO1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 13312 GSTO1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 13312 GSTO1 "Parkinson Disease" MONDO_0014796 "Disgenet " 13315 HDAC8 CDLS5 MONDO_0010471 "Disgenet " 13315 HDAC8 "De Lange Syndrome" MONDO_0016033 "Disgenet " 13315 HDAC8 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 13315 HDAC8 "Cornelia de Lange syndrome" MONDO:0016033 "ClinGen " 13315 HDAC8 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 13345 LPIN1 "myoglobinuria, acute recurrent, autosomal recessive" MONDO:0009992 "ClinGen " 13347 LXN Melanoma MONDO_0005105 "Disgenet " 13356 MCOLN1 "Cancer, Breast" MONDO_0007254 "Disgenet " 13356 MCOLN1 "mucolipidosis type IV" MONDO:0009653 "ClinGen " 13356 MCOLN1 Mucolipidoses MONDO_0009738 "Disgenet " 13356 MCOLN1 "MUCOLIPIDOSIS IV" MONDO_0019248 "Disgenet " 13356 MCOLN1 LECD MONDO_0010425 "Disgenet " 1337 KDM3B "DIETS-JONGMANS SYNDROME" MONDO_0030012 "Disgenet " 1337 KDM3B "syndromic intellectual disability" MONDO:0000508 "ClinGen " 13371 MS4A4A "Alzheimer Disease" MONDO_0012630 "Disgenet " 13387 NEK8 "autosomal dominant polycystic kidney disease" MONDO:0004691 "ClinGen " 13387 NEK8 "renal-hepatic-pancreatic dysplasia 2" MONDO:0014174 "ClinGen " 13387 NEK8 Nephropathy MONDO_0005240 "Disgenet " 13387 NEK8 NPHP9 MONDO_0013444 "Disgenet " 13387 NEK8 "Polycystic Kidney, Autosomal Dominant" MONDO_0004691 "Disgenet " 13394 NPHS2 "Chronic renal disease" MONDO_0005300 "Disgenet " 13394 NPHS2 Nephropathy MONDO_0005240 "Disgenet " 13394 NPHS2 "Nephrotic syndrome, steroid-resistant" MONDO_0005377 "Disgenet " 13394 NPHS2 Nephroses MONDO_0002331 "Disgenet " 13394 NPHS2 "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 13394 NPHS2 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 13394 NPHS2 NPHS2 MONDO_0010974 "Disgenet " 13394 NPHS2 NPHS1 MONDO_0002350 "Disgenet " 13398 NSDHL "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 13398 NSDHL "CK syndrome" MONDO:0010441 "ClinGen " 13398 NSDHL "CK SYNDROME" MONDO_0010441 "Disgenet " 13398 NSDHL "CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS" MONDO_0010621 "Disgenet " 13420 PRUNE1 "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES" MONDO_0060490 "Disgenet " 13427 RBMS3 "Exfoliation Syndrome" MONDO_0100046 "Disgenet " 13429 RLIM MRX61 MONDO_0010506 "Disgenet " 1343 TRAF3IP2 "Arthritic Psoriasis" MONDO_0011849 "Disgenet " 1343 TRAF3IP2 Psoriases MONDO_0005083 "Disgenet " 1343 TRAF3IP2 "Candidiases, Chronic Mucocutaneous" MONDO_0015279 "Disgenet " 13433 ROBO3 "HGPPS - horizontal gaze palsy with progressive scoliosis" MONDO_0011810 "Disgenet " 13433 ROBO3 "gaze palsy, familial horizontal, with progressive scoliosis 1" MONDO:0020790 "ClinGen " 13433 ROBO3 "OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS" MONDO_0011810 "Disgenet " 13444 SLC2A10 "ARTERIAL TORTUOSITY SYNDROME" MONDO_0008818 "Disgenet " 13444 SLC2A10 "arterial tortuosity syndrome" MONDO:0008818 "ClinGen " 13446 SLC2A9 "HYPOURICEMIA, RENAL, 2" MONDO_0012793 "Disgenet " 13446 SLC2A9 "Arthritides, Gouty" MONDO_0005393 "Disgenet " 13446 SLC2A9 RHUC1 MONDO_0020728 "Disgenet " 13446 SLC2A9 Hyperuricemia "Disgenet " 13446 SLC2A9 "Familial renal hypouricaemia" MONDO_0009071 "Disgenet " 13446 SLC2A9 Gout MONDO_0005393 "Disgenet " 13447 SLC38A1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 13449 SLITRK2 "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111" MONDO_0957203 "Disgenet " 1346 C7 "COMPLEMENT COMPONENT 7 DEFICIENCY" MONDO_0012412 "Disgenet " 13469 TNFRSF21 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 13469 TNFRSF21 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 1348 SAMD9 "Disease, Intestinal" MONDO_0005020 "Disgenet " 1348 SAMD9 "Dysmyelopoietic Syndrome" MONDO_0018881 "Disgenet " 1348 SAMD9 "TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL" MONDO_0012502 "Disgenet " 1348 SAMD9 "normophosphatemic familial tumoral calcinosis" MONDO:0012502 "ClinGen " 1348 SAMD9 "SAMD9-related spectrum and myeloid neoplasm risk" MONDO:0100628 "ClinGen " 1348 SAMD9 "MIRAGE SYNDROME" MONDO_0014888 "Disgenet " 13481 UNC93B1 "Herpes encephalitis" MONDO_0012521 "Disgenet " 13486 USP27X MRX105 MONDO_0010510 "Disgenet " 13486 USP27X "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 13486 USP27X "X-linked intellectual disability" MONDO:0100284 "ClinGen " 13487 VPS35 "Parkinson disease" MONDO:0005180 "ClinGen " 13487 VPS35 PARK17 MONDO_0013625 "Disgenet " 13487 VPS35 "Parkinson Disease" MONDO_0014796 "Disgenet " 1349 SAMD9L "SAMD9L-related spectrum and myeloid neoplasm risk" MONDO:1060111 "ClinGen " 1349 SAMD9L "Bone marrow monosomy 7" MONDO_0044645 "Disgenet " 1349 SAMD9L "Myelocerebellar Disorder" MONDO_0008038 "Disgenet " 1349 SAMD9L "SAMD9L-associated autoinflammatory syndrome" MONDO_0850066 "Disgenet " 13517 CLIC5 Hypoacusis MONDO_0005365 "Disgenet " 13518 CLIC4 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 13530 RXYLT1 "muscle-eye-brain disease" MONDO:0018939 "ClinGen " 13530 RXYLT1 MDDGA10 MONDO_0014022 "Disgenet " 13530 RXYLT1 "Walker-Warburg congenital muscular dystrophy" MONDO_0000171 "Disgenet " 13530 RXYLT1 alpha-Dystroglycanopathies MONDO_0000171 "Disgenet " 13533 ATP8A2 "cerebellar ataxia, intellectual disability, and dysequilibrium" MONDO:0009133 "ClinGen " 13533 ATP8A2 "Dysequilibrium syndrome" MONDO_0009133 "Disgenet " 13542 ATP10A "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 13542 ATP10A "Childhood autism" MONDO_0005260 "Disgenet " 13552 ATP11A HLD24 MONDO_0859242 "Disgenet " 13552 ATP11A "Fibrosing alveolitis" MONDO_0800029 "Disgenet " 13552 ATP11A "autosomal dominant nonsyndromic hearing loss" MONDO:0019587 "ClinGen " 13554 ATP11C "HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED" MONDO_0060455 "Disgenet " 13556 IFT122 "Cranioectodermal dysplasia" MONDO_0009032 "Disgenet " 13556 IFT122 "cranioectodermal dysplasia 1" MONDO:0021093 "ClinGen " 13556 IFT122 CED1 MONDO_0009032 "Disgenet " 13557 ACE2 "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 13557 ACE2 "Acute Lung Injury" MONDO_0015796 "Disgenet " 13557 ACE2 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 13557 ACE2 "Respiratory Distress Syndrome, Adult" MONDO_0100130 "Disgenet " 13557 ACE2 SARS MONDO_0005091 "Disgenet " 13557 ACE2 "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 13557 ACE2 "High blood pressure" MONDO_0005044 "Disgenet " 13557 ACE2 "Congestive heart failure" MONDO_0005252 "Disgenet " 13557 ACE2 "lung injury" "Disgenet " 13557 ACE2 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 13557 ACE2 "Heart failure" MONDO_0005252 "Disgenet " 13557 ACE2 "Anxiety Disorder" MONDO_0005618 "Disgenet " 13557 ACE2 "Aortic Aneurysm, Abdominal" MONDO_0005350 "Disgenet " 13557 ACE2 Cardiomyopathy MONDO_0004994 "Disgenet " 1356 ERLIN2 "Paraplegias, Spastic" MONDO_0003757 "Disgenet " 1356 ERLIN2 "SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE" MONDO_0012639 "Disgenet " 1356 ERLIN2 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 1356 ERLIN2 "hereditary spastic paraplegia 18" MONDO:0012639 "ClinGen " 1356 ERLIN2 "hereditary spastic paraplegia 18" MONDO:0012639 "ClinGen " 13575 BRD4 "syndromic intellectual disability" MONDO:0000508 "ClinGen " 13575 BRD4 "De Lange Syndrome" MONDO_0016033 "Disgenet " 13575 BRD4 "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 13575 BRD4 "Neoplasm, Thyroid" MONDO_0015074 "Disgenet " 13575 BRD4 "Carcinoma with t(15;19)(q13;p13.1) Translocation" MONDO_0005563 "Disgenet " 13575 BRD4 "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 13575 BRD4 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 13575 BRD4 Glioblastoma MONDO_0018177 "Disgenet " 13575 BRD4 Medulloblastoma MONDO_0007959 "Disgenet " 13575 BRD4 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 13586 FBXO7 "Parkinson Disease" MONDO_0014796 "Disgenet " 13586 FBXO7 PARK15 MONDO_0009830 "Disgenet " 13587 FBXO8 "Cancer, Breast" MONDO_0007254 "Disgenet " 13590 FBXO11 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 13590 FBXO11 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 13590 FBXO11 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 13590 FBXO11 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 13598 FBXL2 CRC MONDO_0005335 "Disgenet " 13601 FBXL4 "Global developmental delay" "Disgenet " 13601 FBXL4 "Mitochondrial Encephalomyopathies" MONDO_0004675 "Disgenet " 13601 FBXL4 "mitochondrial dna depletion" MONDO_0018158 "Disgenet " 13601 FBXL4 "Leigh syndrome" MONDO:0009723 "ClinGen " 13601 FBXL4 "mitochondrial disease" MONDO:0044970 "ClinGen " 13601 FBXL4 "MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)" MONDO_0014198 "Disgenet " 13606 KDM2A "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 1361 AOPEP "Cancer, Breast" MONDO_0007254 "Disgenet " 1361 AOPEP Dystonia MONDO_0003441 "Disgenet " 1361 AOPEP "Atrial Fibrillation" MONDO_0004981 "Disgenet " 1361 AOPEP "Cancer, Ovarian" MONDO_0008170 "Disgenet " 13621 SLC6A15 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 13621 SLC6A15 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 13628 CACNG8 Schizophrenias MONDO_0005090 "Disgenet " 13633 ADIPOQ "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 13633 ADIPOQ "Cancer, Breast" MONDO_0007254 "Disgenet " 13633 ADIPOQ "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 13633 ADIPOQ "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 13633 ADIPOQ "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 13633 ADIPOQ "Heart failure" MONDO_0005252 "Disgenet " 13633 ADIPOQ "Coronary Disease" MONDO_0005010 "Disgenet " 13633 ADIPOQ "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 13633 ADIPOQ "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 13633 ADIPOQ "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 13633 ADIPOQ Obesity MONDO_0019182 "Disgenet " 13633 ADIPOQ "Cardiovascular Disease" MONDO_0004995 "Disgenet " 13633 ADIPOQ "Syndrome X, Reaven" MONDO_0011565 "Disgenet " 13633 ADIPOQ "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 13633 ADIPOQ "High blood pressure" MONDO_0005044 "Disgenet " 13633 ADIPOQ "Diabetes Mellitus" MONDO_0005015 "Disgenet " 13633 ADIPOQ "Diabetes, Gestational" MONDO_0005406 "Disgenet " 13633 ADIPOQ Atherosclerosis MONDO_0005311 "Disgenet " 13633 ADIPOQ "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 13633 ADIPOQ "Liver cell carcinoma" MONDO_0007256 "Disgenet " 13633 ADIPOQ "Congestive heart failure" MONDO_0005252 "Disgenet " 13633 ADIPOQ "Primary open-angle glaucoma" MONDO_0100553 "Disgenet " 13633 ADIPOQ "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 13633 ADIPOQ Cardiomyopathy MONDO_0004994 "Disgenet " 13633 ADIPOQ Hyperglycemia MONDO_0002909 "Disgenet " 13633 ADIPOQ "Renal cell carcinoma" MONDO_0005549 "Disgenet " 13633 ADIPOQ Hypoadiponectinemia "Disgenet " 13652 BDP1 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 13655 SCUBE3 "SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2" MONDO_0030953 "Disgenet " 1366 ADAMTS13 "congenital thrombotic thrombocytopenic purpura" MONDO:0010122 "ClinGen " 1366 ADAMTS13 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1366 ADAMTS13 TTP MONDO_0010122 "Disgenet " 1366 ADAMTS13 "Thrombotic microangiopathy" MONDO_0019737 "Disgenet " 1366 ADAMTS13 "Purpura, Thrombotic Thrombocytopenic" MONDO_0018896 "Disgenet " 1366 ADAMTS13 Thrombocytopenia MONDO_0002049 "Disgenet " 1366 ADAMTS13 "Non-Shiga-Like Toxin-Associated HUSs" MONDO_0016244 "Disgenet " 13664 MACF1 "LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION" MONDO_0032677 "Disgenet " 13664 MACF1 "Cancer, Breast" MONDO_0007254 "Disgenet " 13664 MACF1 "lissencephaly spectrum disorder with complex brainstem malformation" MONDO:0100472 "ClinGen " 13664 MACF1 "Global developmental delay" "Disgenet " 13666 AAAS "ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME" MONDO_0009279 "Disgenet " 13666 AAAS "Achalasias, Esophageal" MONDO_0008698 "Disgenet " 13667 AP1M1 "Cancer, Breast" MONDO_0007254 "Disgenet " 13672 KLF13 "congenital heart disease" MONDO:0005453 "ClinGen " 13672 KLF13 "congenital heart disorder" MONDO_0005453 "Disgenet " 13672 KLF13 "CHROMOSOME 15q13.3 DELETION SYNDROME" MONDO_0012774 "Disgenet " 13681 DCHS1 "Click-Murmur Syndrome, Mitral" MONDO_0004910 "Disgenet " 13681 DCHS1 "Cerebro-facio-articular syndrome of Van Maldergem" MONDO_0017813 "Disgenet " 13681 DCHS1 "Periventricular gray matter heterotopias" "Disgenet " 13681 DCHS1 "VAN MALDERGEM SYNDROME 1" MONDO_0017813 "Disgenet " 13681 DCHS1 "congenital heart disease" MONDO:0005453 "ClinGen " 13681 DCHS1 "van Maldergem syndrome" MONDO:0017813 "ClinGen " 13698 GTSE1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 13702 BIRC7 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 13709 DEGS1 "leukodystrophy, hypomyelinating, 18" MONDO:0032730 "ClinGen " 13709 DEGS1 HLD18 MONDO_0032730 "Disgenet " 13709 DEGS1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 13709 DEGS1 Leukodystrophy MONDO_0019046 "Disgenet " 13711 POF1B POF2B MONDO_0010373 "Disgenet " 13711 POF1B "Menopause, Premature" MONDO_0001119 "Disgenet " 13718 FOSL1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 13718 FOSL1 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 13723 CTCF "syndromic intellectual disability" MONDO:0000508 "ClinGen " 13723 CTCF Nephroblastoma MONDO_0019004 "Disgenet " 13723 CTCF MRD21 MONDO_0014213 "Disgenet " 13723 CTCF "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 13723 CTCF "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 13723 CTCF "Breast Neoplasms" MONDO_0021100 "Disgenet " 13723 CTCF Schizophrenias MONDO_0005090 "Disgenet " 13726 KMT2C "Liver cell carcinoma" MONDO_0007256 "Disgenet " 13726 KMT2C "Childhood autism" MONDO_0005260 "Disgenet " 13726 KMT2C "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 13726 KMT2C "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 13726 KMT2C "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 13726 KMT2C "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 13726 KMT2C "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 13726 KMT2C "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 13726 KMT2C "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 13726 KMT2C "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 13726 KMT2C "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 13726 KMT2C CRC MONDO_0005335 "Disgenet " 13726 KMT2C "Kleefstra syndrome due to a point mutation" MONDO_0016865 "Disgenet " 13726 KMT2C "KLEEFSTRA SYNDROME 2" MONDO_0054701 "Disgenet " 13726 KMT2C "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 13726 KMT2C "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 13726 KMT2C "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 13726 KMT2C "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 13726 KMT2C "9q- Syndrome" MONDO_0027407 "Disgenet " 13726 KMT2C "syndromic intellectual disability" MONDO:0000508 "ClinGen " 13727 RANBP9 Schizophrenias MONDO_0005090 "Disgenet " 1373 CA2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1373 CA2 "Albers Schoenberg Disease" MONDO_0012859 "Disgenet " 1373 CA2 "autosomal recessive osteopetrosis 3" MONDO:0009818 "ClinGen " 1373 CA2 Osteoporoses MONDO_0005298 "Disgenet " 1373 CA2 "OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3" MONDO_0009818 "Disgenet " 13733 CDH23 "Usher syndrome type 1" MONDO:0010168 "ClinGen " 13733 CDH23 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 13733 CDH23 "USHER SYNDROME, TYPE ID" MONDO_0010984 "Disgenet " 13733 CDH23 "USH1A, FORMERLY" MONDO_0700087 "Disgenet " 13733 CDH23 DFNB12 MONDO_0011067 "Disgenet " 13733 CDH23 USH2A MONDO_0010169 "Disgenet " 13733 CDH23 Hypoacusis MONDO_0005365 "Disgenet " 13733 CDH23 "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 13733 CDH23 "DEAFNESS, AUTOSOMAL RECESSIVE" MONDO_0019588 "Disgenet " 13733 CDH23 "Sensorineural hearing loss, bilateral" MONDO_0013269 "Disgenet " 13733 CDH23 "PITUITARY ADENOMA 5, MULTIPLE TYPES" MONDO_0054601 "Disgenet " 13733 CDH23 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 13733 CDH23 "Usher syndrome" MONDO_0019501 "Disgenet " 13734 GLYAT "Bipolar Disorders" MONDO_0004985 "Disgenet " 1374 CA3 Obesity MONDO_0019182 "Disgenet " 13745 FSD1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 1375 CA4 "RETINITIS PIGMENTOSA 17" MONDO_0010945 "Disgenet " 1375 CA4 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 13752 MYOZ1 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 13759 CYFIP1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 13759 CYFIP1 Schizophrenias MONDO_0005090 "Disgenet " 13759 CYFIP1 "Childhood autism" MONDO_0005260 "Disgenet " 13760 CYFIP2 EIEE65 MONDO_0033374 "Disgenet " 13760 CYFIP2 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 13760 CYFIP2 "Global developmental delay" "Disgenet " 13760 CYFIP2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 13764 RELT "Amelogenesis Imperfecta" MONDO_0007092 "Disgenet " 13764 RELT "AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL RECESSIVE" MONDO_0032717 "Disgenet " 1377 CA5A "CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO" MONDO_0014332 "Disgenet " 1377 CA5A "Carbonic anhydrase VA deficiency" MONDO_0014332 "Disgenet " 1377 CA5A "hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency" MONDO:0014332 "ClinGen " 13771 SOST "Primary bone dysplasia with increased bone density" "Disgenet " 13771 SOST "CRANIODIAPHYSEAL DYSPLASIA" MONDO_0009031 "Disgenet " 13771 SOST "Van Buchem disease" MONDO_0005516 "Disgenet " 13771 SOST Sclerosteosis MONDO_0017838 "Disgenet " 13771 SOST CDD MONDO_0021021 "Disgenet " 13771 SOST "SCLEROSTEOSIS 1" MONDO_0017838 "Disgenet " 13780 GFM1 "Leigh syndrome" MONDO:0009723 "ClinGen " 13780 GFM1 COXPD1 MONDO_0000732 "Disgenet " 13797 PRX CMT4F MONDO_0013959 "Disgenet " 13797 PRX "Charcot-Marie-Tooth disease type 4f (diagnosis)" MONDO_0013959 "Disgenet " 13797 PRX "Charcot-Marie-Tooth disease type 4" MONDO:0018995 "ClinGen " 13797 PRX "Peripheral neuropathy" MONDO_0005244 "Disgenet " 13797 PRX "Charcot-Marie-Tooth disease Type 4" MONDO_0018995 "Disgenet " 13797 PRX "Dejerine Sottas Disease" MONDO_0011687 "Disgenet " 13797 PRX "Charcot Marie Disease" MONDO_0011687 "Disgenet " 13799 ERP29 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 13811 SLC4A10 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 13811 SLC4A10 Epilepsies MONDO_0005027 "Disgenet " 1382 CA8 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 1382 CA8 "Dysequilibrium syndrome" MONDO_0009133 "Disgenet " 1382 CA8 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 1382 CA8 "cerebellar ataxia" MONDO:0000437 "ClinGen " 1382 CA8 CAMRQ3 MONDO_0013188 "Disgenet " 13829 WNT10A "Ectodermal dysplasia (anhidrotic)" MONDO_0016535 "Disgenet " 13829 WNT10A "Selective tooth agenesis" "Disgenet " 13829 WNT10A Anodontia MONDO_0005486 "Disgenet " 13829 WNT10A "ectodermal dysplasia WNT10A related" MONDO:0100358 "ClinGen " 13829 WNT10A "Failure of development of some teeth" "Disgenet " 13829 WNT10A Oligodontia MONDO_0008797 "Disgenet " 13829 WNT10A "ODONTOONYCHODERMAL DYSPLASIA" MONDO_0009773 "Disgenet " 13829 WNT10A "SCHOPF-SCHULZ-PASSARGE SYNDROME" MONDO_0009145 "Disgenet " 13829 WNT10A "Ectodermal Dysplasias" MONDO_0019287 "Disgenet " 1383 CA9 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 1383 CA9 "Carcinoma, Intraductal, Noninfiltrating" MONDO_0005023 "Disgenet " 1383 CA9 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 13830 CNTNAP2 Epilepsies MONDO_0005027 "Disgenet " 13830 CNTNAP2 "Childhood autism" MONDO_0005260 "Disgenet " 13830 CNTNAP2 CDFES MONDO_0012400 "Disgenet " 13830 CNTNAP2 "PITT-HOPKINS SYNDROME" MONDO_0012589 "Disgenet " 13830 CNTNAP2 Alcoholism MONDO_0002046 "Disgenet " 13830 CNTNAP2 "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 13830 CNTNAP2 Stuttering MONDO_0000723 "Disgenet " 13830 CNTNAP2 "CDFE syndrome" MONDO_0012400 "Disgenet " 13830 CNTNAP2 "Development Disorder, Language" "Disgenet " 13830 CNTNAP2 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 13830 CNTNAP2 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 13830 CNTNAP2 Schizophrenias MONDO_0005090 "Disgenet " 13830 CNTNAP2 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 13830 CNTNAP2 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 13830 CNTNAP2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 13831 WDR11 "Syndrome, Kallmann's" MONDO_0013961 "Disgenet " 13831 WDR11 "Hypogonadotropic hypogonadism" MONDO_0014102 "Disgenet " 13831 WDR11 IHH MONDO_0007794 "Disgenet " 13831 WDR11 HH14 MONDO_0013926 "Disgenet " 13841 ADGRG6 Arthrogryposes MONDO_0015168 "Disgenet " 13854 ZKSCAN4 Schizophrenias MONDO_0005090 "Disgenet " 13861 LZTS1 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 13861 LZTS1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 13861 LZTS1 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 13867 SH3KBP1 AGMX2 MONDO_0010296 "Disgenet " 13867 SH3KBP1 "immunodeficiency 61" MONDO:0010296 "ClinGen " 13869 LOXL3 "Stickler syndrome (diagnosis)" MONDO_0019354 "Disgenet " 13872 RIPOR2 "autosomal dominant nonsyndromic hearing loss" MONDO:0019587 "ClinGen " 13872 RIPOR2 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 13875 FOXP2 "Reading disorder" MONDO_0005489 "Disgenet " 13875 FOXP2 "specific language disorder" MONDO:0016226 "ClinGen " 13875 FOXP2 "Childhood autism" MONDO_0005260 "Disgenet " 13875 FOXP2 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 13875 FOXP2 Schizophrenias MONDO_0005090 "Disgenet " 13875 FOXP2 "Language Disorder" MONDO_0004750 "Disgenet " 13875 FOXP2 "Global developmental delay" "Disgenet " 13875 FOXP2 Apraxia MONDO_0000665 "Disgenet " 13875 FOXP2 DVD MONDO_0000665 "Disgenet " 1388 CACNA1A "SPINOCEREBELLAR ATAXIA 6" MONDO_0008457 "Disgenet " 1388 CACNA1A "MIGRAINE HEADACHE" MONDO_0005277 "Disgenet " 1388 CACNA1A "Migraine with aura" MONDO_0005475 "Disgenet " 1388 CACNA1A "MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA" MONDO_0020756 "Disgenet " 1388 CACNA1A "Episodic ataxia type 2 (EA2)" MONDO_0007163 "Disgenet " 1388 CACNA1A "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 1388 CACNA1A Dysarthria "Disgenet " 1388 CACNA1A Chorea MONDO_0001595 "Disgenet " 1388 CACNA1A "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 1388 CACNA1A "epileptic encephalopathy" "Disgenet " 1388 CACNA1A "Exfoliation Syndrome" MONDO_0100046 "Disgenet " 1388 CACNA1A "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 1388 CACNA1A "MIGRAINE, SPORADIC HEMIPLEGIC" MONDO_0020757 "Disgenet " 1388 CACNA1A "Hemiplegic migraine" MONDO_0018925 "Disgenet " 1388 CACNA1A EIEE42 MONDO_0014917 "Disgenet " 1388 CACNA1A "Episodic ataxia (disorder)" MONDO_0016227 "Disgenet " 1388 CACNA1A "Ataxia, Spinocerebellar" MONDO_0000437 "Disgenet " 1388 CACNA1A "Cerebellar atrophy" "Disgenet " 1388 CACNA1A "Absence Epilepsy" MONDO_0010826 "Disgenet " 1388 CACNA1A "Global developmental delay" "Disgenet " 1388 CACNA1A "Bipolar Disorders" MONDO_0004985 "Disgenet " 13886 ABCG5 Sitosterolemia MONDO_0008863 "Disgenet " 13886 ABCG5 Atherosclerosis MONDO_0005311 "Disgenet " 13886 ABCG5 Dyslipidaemia "Disgenet " 13886 ABCG5 sitosterolemia MONDO:0008863 "ClinGen " 13886 ABCG5 Hypercholesteremias "Disgenet " 13886 ABCG5 "Coronary Disease" MONDO_0005010 "Disgenet " 13886 ABCG5 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 13887 ABCG8 Obesity MONDO_0019182 "Disgenet " 13887 ABCG8 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 13887 ABCG8 sitosterolemia MONDO:0008863 "ClinGen " 13887 ABCG8 Cholecystolithiasis MONDO_0006698 "Disgenet " 13887 ABCG8 Sitosterolemia MONDO_0008863 "Disgenet " 13887 ABCG8 Cholelithiases MONDO_0012672 "Disgenet " 1390 CACNA1C Psychosis MONDO_0005485 "Disgenet " 1390 CACNA1C "Affective Disorders" MONDO_0005371 "Disgenet " 1390 CACNA1C "Depressions, Unipolar" MONDO_0002050 "Disgenet " 1390 CACNA1C Depression MONDO_0002050 "Disgenet " 1390 CACNA1C "High blood pressure" MONDO_0005044 "Disgenet " 1390 CACNA1C "Unspecified nonorganic psychosis" "Disgenet " 1390 CACNA1C "Depressive neurosis" MONDO_0002050 "Disgenet " 1390 CACNA1C "Anxiety Disorder" MONDO_0005618 "Disgenet " 1390 CACNA1C Epilepsies MONDO_0005027 "Disgenet " 1390 CACNA1C "Ventricular tachycardia" MONDO_0013529 "Disgenet " 1390 CACNA1C "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 1390 CACNA1C "Short QT Syndrome" MONDO_0000453 "Disgenet " 1390 CACNA1C "Timothy syndrome type 2 (disorder)" MONDO_0035679 "Disgenet " 1390 CACNA1C Hypoglycemia MONDO_0004946 "Disgenet " 1390 CACNA1C Cardiomyopathy MONDO_0004994 "Disgenet " 1390 CACNA1C "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 1390 CACNA1C "Timothy syndrome type 1 (disorder)" MONDO_0035678 "Disgenet " 1390 CACNA1C "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 1390 CACNA1C "BRUGADA SYNDROME 3" MONDO_0012742 "Disgenet " 1390 CACNA1C "Timothy syndrome" MONDO:0010979 "ClinGen " 1390 CACNA1C "long QT syndrome" MONDO:0002442 "ClinGen " 1390 CACNA1C "Brugada syndrome" MONDO:0015263 "ClinGen " 1390 CACNA1C "Brugada syndrome" MONDO:0015263 "ClinGen " 1390 CACNA1C "short QT syndrome" MONDO:0000453 "ClinGen " 1390 CACNA1C NEDHLSS MONDO_0859286 "Disgenet " 1390 CACNA1C "TIMOTHY SYNDROME" MONDO_0010979 "Disgenet " 1390 CACNA1C "Bipolar Disorders" MONDO_0004985 "Disgenet " 1390 CACNA1C "Long QT Syndrome" MONDO_0002442 "Disgenet " 1390 CACNA1C Arrhythmia MONDO_0007263 "Disgenet " 1390 CACNA1C "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 1390 CACNA1C "Brugada Syndrome" MONDO_0015263 "Disgenet " 1390 CACNA1C "Childhood autism" MONDO_0005260 "Disgenet " 1390 CACNA1C "Polymorphic catecholergic ventricular tachycardia" MONDO_0017990 "Disgenet " 1390 CACNA1C "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 1390 CACNA1C "Conduction disorders" MONDO_0100042 "Disgenet " 1390 CACNA1C Anhedonia "Disgenet " 1390 CACNA1C ATS MONDO_0021172 "Disgenet " 1390 CACNA1C "Cognitive Dysfunction" "Disgenet " 1390 CACNA1C Schizophrenias MONDO_0005090 "Disgenet " 1391 CACNA1D "sinoatrial node dysfunction and deafness" MONDO:0013960 "ClinGen " 1391 CACNA1D "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 1391 CACNA1D "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 1391 CACNA1D PASNA MONDO_0014200 "Disgenet " 1391 CACNA1D Adenoma MONDO_0004972 "Disgenet " 1391 CACNA1D "Bipolar Disorders" MONDO_0004985 "Disgenet " 1391 CACNA1D "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 1391 CACNA1D "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 1391 CACNA1D Hyperaldosteronism MONDO_0003009 "Disgenet " 1391 CACNA1D "SINOATRIAL NODE DYSFUNCTION AND DEAFNESS" MONDO_0013960 "Disgenet " 13916 APOM "Coronary Disease" MONDO_0005010 "Disgenet " 13916 APOM "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 13916 APOM "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 13916 APOM "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 13921 ABHD16A "SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE" MONDO_0030673 "Disgenet " 13937 MPIG6B Thrombocytopenia MONDO_0002049 "Disgenet " 13937 MPIG6B "thrombocytopenia, anemia, and myelofibrosis" MONDO:0044316 "ClinGen " 1394 CACNA1G "Ataxia, Spinocerebellar" MONDO_0000437 "Disgenet " 1394 CACNA1G "SPINOCEREBELLAR ATAXIA 42" MONDO_0014776 "Disgenet " 1394 CACNA1G "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 1394 CACNA1G "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 13941 SLC44A4 DFNA72 MONDO_0033259 "Disgenet " 13941 SLC44A4 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 13949 FKBPL "Breast Neoplasms" MONDO_0021100 "Disgenet " 1395 CACNA1H "Childhood autism" MONDO_0005260 "Disgenet " 1395 CACNA1H Hyperaldosteronism MONDO_0003009 "Disgenet " 1395 CACNA1H "HYPERALDOSTERONISM, FAMILIAL, TYPE IV" MONDO_0014875 "Disgenet " 1395 CACNA1H "Conn's syndrome" MONDO_0003009 "Disgenet " 1395 CACNA1H pyknolepsy MONDO_0010826 "Disgenet " 1395 CACNA1H "Absence Epilepsy" MONDO_0010826 "Disgenet " 1395 CACNA1H "Generalized idiopathic epilepsy and epileptic syndromes" MONDO_0005579 "Disgenet " 1395 CACNA1H "Peripheral neuropathy" MONDO_0005244 "Disgenet " 1396 CACNA1I Schizophrenias MONDO_0005090 "Disgenet " 1399 CACNA2D1 "High blood pressure" MONDO_0005044 "Disgenet " 1399 CACNA2D1 "Short QT Syndrome" MONDO_0000453 "Disgenet " 1399 CACNA2D1 "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110" MONDO_0859327 "Disgenet " 1399 CACNA2D1 "short QT syndrome" MONDO:0000453 "ClinGen " 1399 CACNA2D1 "Brugada syndrome 1" MONDO:0011001 "ClinGen " 13993 PRDM8 EPM10 MONDO_0014717 "Disgenet " 13995 PRDM10 "Birt-Hogg-Dube syndrome" MONDO_0018070 "Disgenet " 1400 CACNA2D2 "epileptic encephalopathy" "Disgenet " 1400 CACNA2D2 "Absence Epilepsy" MONDO_0010826 "Disgenet " 1400 CACNA2D2 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 14000 PRDM16 LVNC8 MONDO_0014152 "Disgenet " 14000 PRDM16 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 14000 PRDM16 "MIGRAINE HEADACHE" MONDO_0005277 "Disgenet " 14000 PRDM16 "Left ventricular noncompaction" MONDO_0018901 "Disgenet " 14000 PRDM16 "Left Ventricular Non-Compaction Syndrome" MONDO_0018901 "Disgenet " 14000 PRDM16 "1p36 Deletion Syndrome" MONDO_0011929 "Disgenet " 14000 PRDM16 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 14001 PRDM14 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 14001 PRDM14 ALL MONDO_0004967 "Disgenet " 14004 ANO3 Dystonia MONDO_0003441 "Disgenet " 14004 ANO3 DYT24 MONDO_0014019 "Disgenet " 14006 TRPV6 "Transient Neonatal Hyperparathyroidism" MONDO_0032591 "Disgenet " 14006 TRPV6 Hyperparathyroidism MONDO_0001741 "Disgenet " 1402 CACNB2 "High blood pressure" MONDO_0005044 "Disgenet " 1402 CACNB2 "cardiogenetic disease" MONDO:0100547 "ClinGen " 1402 CACNB2 "BRUGADA SYNDROME 4" MONDO_0012743 "Disgenet " 1402 CACNB2 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 1402 CACNB2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 1402 CACNB2 Schizophrenias MONDO_0005090 "Disgenet " 1402 CACNB2 "Brugada Syndrome" MONDO_0015263 "Disgenet " 14025 SLC5A7 "CONGEN MYASTHENIA GRAVIS" MONDO_0018940 "Disgenet " 14025 SLC5A7 "Distal spinal muscular atrophy" MONDO_0001516 "Disgenet " 14025 SLC5A7 "Distal hereditary motor neuropathy type 7" MONDO_0015355 "Disgenet " 14025 SLC5A7 CMS20 MONDO_0014939 "Disgenet " 14025 SLC5A7 "NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA" MONDO_0008024 "Disgenet " 14025 SLC5A7 "neuronopathy, distal hereditary motor, type 7A" MONDO:0008024 "ClinGen " 14025 SLC5A7 Depression MONDO_0002050 "Disgenet " 14027 MRPL39 "mitochondrial disease" MONDO:0044970 "ClinGen " 1404 CACNB4 Epilepsies MONDO_0005027 "Disgenet " 1404 CACNB4 "EPISODIC ATAXIA, TYPE 5" MONDO_0013464 "Disgenet " 1404 CACNB4 "Generalized idiopathic epilepsy and epileptic syndromes" MONDO_0005579 "Disgenet " 1404 CACNB4 epilepsy MONDO:0005027 "ClinGen " 1404 CACNB4 "juvenile myoclonic epilepsy" MONDO_0009696 "Disgenet " 1404 CACNB4 "Episodic ataxia (disorder)" MONDO_0016227 "Disgenet " 14048 MRPS16 "mitochondrial disease" MONDO:0044970 "ClinGen " 14048 MRPS16 "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2" MONDO_0012510 "Disgenet " 14049 MRPS14 "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38" MONDO_0032712 "Disgenet " 14052 MRPL19 "Breast Neoplasms" MONDO_0021100 "Disgenet " 1406 CACNG2 Schizophrenias MONDO_0005090 "Disgenet " 1406 CACNG2 MRD10 MONDO_0013657 "Disgenet " 1406 CACNG2 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 14063 HDAC4 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 14063 HDAC4 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 14063 HDAC4 BDE MONDO_0019677 "Disgenet " 14063 HDAC4 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 14063 HDAC4 BDMR MONDO_0010886 "Disgenet " 14063 HDAC4 "Eating disorder" MONDO_0005451 "Disgenet " 14063 HDAC4 "Ataxia Telangiectasia" MONDO_0008840 "Disgenet " 14063 HDAC4 "Multiple Myeloma" MONDO_0009693 "Disgenet " 14063 HDAC4 "Cancer, Breast" MONDO_0007254 "Disgenet " 14063 HDAC4 Schizophrenias MONDO_0005090 "Disgenet " 14064 HDAC6 Melanoma MONDO_0005105 "Disgenet " 14064 HDAC6 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 14064 HDAC6 "Depressive neurosis" MONDO_0002050 "Disgenet " 14064 HDAC6 Depression MONDO_0002050 "Disgenet " 14064 HDAC6 "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 14064 HDAC6 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 14064 HDAC6 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 14065 HDAC9 Atherosclerosis MONDO_0005311 "Disgenet " 14065 HDAC9 "Cerebrovascular accident" MONDO_0005098 "Disgenet " 14065 HDAC9 "Depressive neurosis" MONDO_0002050 "Disgenet " 14065 HDAC9 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 14065 HDAC9 Schizophrenias MONDO_0005090 "Disgenet " 14065 HDAC9 Depression MONDO_0002050 "Disgenet " 14067 HDAC7 "Cancer, Breast" MONDO_0007254 "Disgenet " 14068 HDAC5 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 14068 HDAC5 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 14068 HDAC5 Depression MONDO_0002050 "Disgenet " 14074 FMN2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 14078 BACH2 BRIDA MONDO_0032723 "Disgenet " 14078 BACH2 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 14078 BACH2 "immunodeficiency 60" MONDO:0032723 "ClinGen " 14082 ANLN "Liver cell carcinoma" MONDO_0007256 "Disgenet " 14082 ANLN FSGS8 MONDO_0014462 "Disgenet " 14082 ANLN "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 14085 RTN4 Schizophrenias MONDO_0005090 "Disgenet " 14085 RTN4 CRC MONDO_0005335 "Disgenet " 14097 ZSCAN31 Schizophrenias MONDO_0005090 "Disgenet " 14098 WDR12 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 14103 ARHGEF10 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 14103 ARHGEF10 "autosomal dominant slowed nerve conduction velocity" MONDO:0011998 "ClinGen " 14103 ARHGEF10 "SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANT" MONDO_0011998 "Disgenet " 14121 POLR3K "HYPOMYELINATING LEUKODYSTROPHY 21" MONDO_0030263 "Disgenet " 14124 NPRL3 "focal epilepsy" MONDO:0005384 "ClinGen " 14124 NPRL3 "EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3" MONDO_0014925 "Disgenet " 14124 NPRL3 "Epilepsy, Partial, with Variable Foci" MONDO_0020310 "Disgenet " 14124 NPRL3 "Epilepsies, Focal" MONDO_0005384 "Disgenet " 14129 EHMT2 ALL MONDO_0004967 "Disgenet " 14129 EHMT2 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 14129 EHMT2 "Lung Neoplasm" MONDO_0002732 "Disgenet " 14129 EHMT2 "Fibrosing alveolitis" MONDO_0800029 "Disgenet " 14135 PIGQ "developmental and epileptic encephalopathy, 77" MONDO:0032808 "ClinGen " 14135 PIGQ "Early infantile epileptic encephalopathy with burst-suppression" MONDO_0100062 "Disgenet " 14153 CCDC78 "centronuclear myopathy" MONDO:0018947 "ClinGen " 14153 CCDC78 CNM4 MONDO_0013890 "Disgenet " 14154 LMF1 Hypertriglyceridemia MONDO_0005347 "Disgenet " 14154 LMF1 "LIPASE DEFICIENCY, COMBINED" MONDO_0009527 "Disgenet " 14180 PDIA2 "Bicuspid aortic valve" MONDO_0007194 "Disgenet " 14188 AVIL NPHS21 MONDO_0032826 "Disgenet " 14198 ELAC2 "MITOCHONDRIAL COMPLEX I DEFICIENCY" MONDO_0100133 "Disgenet " 14198 ELAC2 "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17" MONDO_0014190 "Disgenet " 14198 ELAC2 "PROSTATE CANCER, HEREDITARY, 2" MONDO_0013872 "Disgenet " 14198 ELAC2 "Hereditary prostate cancer" MONDO_0023122 "Disgenet " 14198 ELAC2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 14198 ELAC2 "mitochondrial disease" MONDO:0044970 "ClinGen " 14201 JPH1 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K" MONDO_0011916 "Disgenet " 14201 JPH1 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 14201 JPH1 "Congenital myopathies" MONDO_0013177 "Disgenet " 14202 JPH2 "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17" MONDO_0013474 "Disgenet " 14202 JPH2 Cardiomyopathy MONDO_0004994 "Disgenet " 14202 JPH2 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 14202 JPH2 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 14202 JPH2 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 14202 JPH2 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 14202 JPH2 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 1421 SLC25A20 "carnitine-acylcarnitine translocase deficiency" MONDO:0008918 "ClinGen " 1421 SLC25A20 "CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY" MONDO_0008918 "Disgenet " 14210 SUN2 "Emery-Dreifuss muscular dystrophy" MONDO_0016830 "Disgenet " 14211 BLNK Hypogammaglobulinemias MONDO_0015977 "Disgenet " 14211 BLNK "agammaglobulinemia 4, autosomal recessive" MONDO:0013289 "ClinGen " 14211 BLNK AGM4 MONDO_0013289 "Disgenet " 14211 BLNK Agammaglobulinemia MONDO_0015977 "Disgenet " 14214 CIC "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 14214 CIC "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 14214 CIC "Oligodendroglioma, anaplastic" MONDO_0016696 "Disgenet " 14214 CIC Oligodendroglioma MONDO_0016695 "Disgenet " 14214 CIC MRD45 MONDO_0030910 "Disgenet " 14214 CIC "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 1424 CAD "developmental and epileptic encephalopathy, 50" MONDO:0014647 "ClinGen " 1424 CAD "CDG1Z, FORMERLY" MONDO_0014647 "Disgenet " 1424 CAD Epilepsies MONDO_0005027 "Disgenet " 14240 SMPD3 Leukemias MONDO_0005059 "Disgenet " 14244 RAB18 "Warburg micro syndrome" MONDO:0016649 "ClinGen " 14244 RAB18 "Warburg Sjo Fledelius syndrome" MONDO_0016649 "Disgenet " 14244 RAB18 WARBM3 MONDO_0013638 "Disgenet " 14244 RAB18 WARBM MONDO_0016649 "Disgenet " 14245 SNUPN "SNUPN-related muscular dystrophy with or without multi-system involvement" MONDO:0100584 "ClinGen " 14248 MED15 Schizophrenias MONDO_0005090 "Disgenet " 14253 CERS1 "EPILEPSY, PROGRESSIVE MYOCLONIC, 8" MONDO_0014545 "Disgenet " 14253 CERS1 "Epilepsies, Progressive Myoclonic" MONDO_0020074 "Disgenet " 14253 CERS1 "progressive myoclonus epilepsy" MONDO:0020074 "ClinGen " 14255 BRPF1 "syndromic complex neurodevelopmental disorder" MONDO:0800439 "ClinGen " 14255 BRPF1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 14255 BRPF1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 14255 BRPF1 "Global developmental delay" "Disgenet " 14258 CD2AP "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 14258 CD2AP "Alzheimer Disease" MONDO_0012630 "Disgenet " 14258 CD2AP "focal segmental glomerulosclerosis 3, susceptibility to" MONDO:0011917 "ClinGen " 14258 CD2AP "inherited focal segmental glomerulosclerosis" MONDO:0005363 "ClinGen " 14258 CD2AP "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 14262 AUTS2 "Global developmental delay" "Disgenet " 14262 AUTS2 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 14262 AUTS2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 14262 AUTS2 Schizophrenias MONDO_0005090 "Disgenet " 14262 AUTS2 "Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency" MONDO_0014361 "Disgenet " 14262 AUTS2 "Childhood autism" MONDO_0005260 "Disgenet " 14262 AUTS2 Epilepsies MONDO_0005027 "Disgenet " 14262 AUTS2 "syndromic intellectual disability" MONDO:0000508 "ClinGen " 14263 RAB23 "RAB23-related Carpenter syndrome" MONDO:0008710 "ClinGen " 14263 RAB23 "carpenters syndrome" MONDO_0019012 "Disgenet " 14263 RAB23 "CARPENTER SYNDROME 1" MONDO_0019012 "Disgenet " 14278 MRPL13 "Breast Neoplasms" MONDO_0021100 "Disgenet " 14281 CRLF2 ALL MONDO_0004967 "Disgenet " 14282 IRF2BPL "Global developmental delay" "Disgenet " 14282 IRF2BPL "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 14282 IRF2BPL "neurodegenerative disease" MONDO:0005559 "ClinGen " 14282 IRF2BPL NEDAMSS MONDO_0060759 "Disgenet " 14283 IKZF5 "THROMBOCYTOPENIA 7" MONDO_0030867 "Disgenet " 14283 IKZF5 "thrombocytopenia 7" MONDO:0030867 "ClinGen " 14283 IKZF5 Thrombocytopenia MONDO_0002049 "Disgenet " 14287 NLGN4X "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 14287 NLGN4X "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 14287 NLGN4X "Childhood autism" MONDO_0005260 "Disgenet " 14287 NLGN4X "X-linked complex neurodevelopmental disorder" MONDO:0100148 "ClinGen " 14287 NLGN4X "X LINKED MENTAL RETARDATION DIS" MONDO_0010341 "Disgenet " 14288 NTNG2 Schizophrenias MONDO_0005090 "Disgenet " 14288 NTNG2 "Global developmental delay" "Disgenet " 14288 NTNG2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 14289 NLGN3 "Childhood autism" MONDO_0005260 "Disgenet " 14289 NLGN3 "Autistic behaviors" "Disgenet " 14289 NLGN3 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 14289 NLGN3 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 14289 NLGN3 "X-linked complex neurodevelopmental disorder" MONDO:0100148 "ClinGen " 14290 NLGN2 Schizophrenias MONDO_0005090 "Disgenet " 14290 NLGN2 "Childhood autism" MONDO_0005260 "Disgenet " 14291 NLGN1 "Childhood autism" MONDO_0005260 "Disgenet " 14291 NLGN1 Schizophrenias MONDO_0005090 "Disgenet " 14291 NLGN1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 14294 SHANK3 "Child Development Disorder" MONDO_0005287 "Disgenet " 14294 SHANK3 "Autistic behaviors" "Disgenet " 14294 SHANK3 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 14294 SHANK3 "SCHIZOPHRENIA 15" MONDO_0013498 "Disgenet " 14294 SHANK3 "Phelan-McDermid syndrome" MONDO:0011652 "ClinGen " 14294 SHANK3 Schizophrenias MONDO_0005090 "Disgenet " 14294 SHANK3 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 14294 SHANK3 "Childhood autism" MONDO_0005260 "Disgenet " 14294 SHANK3 "22q13.3 deletion syndrome" MONDO_0011652 "Disgenet " 14294 SHANK3 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 14294 SHANK3 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 14294 SHANK3 "Global developmental delay" "Disgenet " 143 ACTC1 CMD1A MONDO_0005021 "Disgenet " 143 ACTC1 CMH11 MONDO_0012799 "Disgenet " 143 ACTC1 ASD5 MONDO_0013011 "Disgenet " 143 ACTC1 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 143 ACTC1 "arrhythmogenic right ventricular cardiomyopathy" MONDO:0016587 "ClinGen " 143 ACTC1 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 143 ACTC1 "Left ventricular noncompaction" MONDO_0018901 "Disgenet " 143 ACTC1 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 143 ACTC1 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 143 ACTC1 "Atrial septal defect" MONDO_0006664 "Disgenet " 143 ACTC1 "Cardiomyopathy, Hypertrophic, Familial" MONDO_0024573 "Disgenet " 143 ACTC1 CMD1R MONDO_0013261 "Disgenet " 143 ACTC1 Cardiomyopathy MONDO_0004994 "Disgenet " 14304 UNC45B "CATARACT 43" MONDO_0014565 "Disgenet " 14304 UNC45B "MYOPATHY, CONGENITAL, WITH ECCENTRIC CORES" MONDO_0030927 "Disgenet " 14305 CMYA5 Schizophrenias MONDO_0005090 "Disgenet " 14307 LRRC1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 14311 NUAK1 "Multiple Myeloma" MONDO_0009693 "Disgenet " 14312 CRIPT "PITUITARY DWARFISM I" MONDO_0000050 "Disgenet " 14313 IFT81 "short-rib thoracic dysplasia 19 with or without polydactyly" MONDO:0033485 "ClinGen " 14313 IFT81 Ciliopathies MONDO_0005308 "Disgenet " 14313 IFT81 "SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY" MONDO_0033485 "Disgenet " 14333 BAALC "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 14334 MRTFA "Acute Megakaryoblastic Leukemia" MONDO_0018872 "Disgenet " 14335 PLEKHA1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 14341 EDARADD HED MONDO_0013982 "Disgenet " 14341 EDARADD "Ectodermal dysplasia (anhidrotic)" MONDO_0016535 "Disgenet " 14341 EDARADD HED MONDO_0013983 "Disgenet " 14341 EDARADD "Christ Siemens Touraine Syndrome" MONDO_0010585 "Disgenet " 14341 EDARADD "ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE" MONDO_0009147 "Disgenet " 14341 EDARADD Oligodontia MONDO_0008797 "Disgenet " 14341 EDARADD "Failure of development of some teeth" "Disgenet " 14343 C1QTNF6 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 14347 BCAS3 HEMARS MONDO_0859208 "Disgenet " 14348 HTRA2 "3-methylglutaconic aciduria type 8" MONDO:0044723 "ClinGen " 14348 HTRA2 "Motor Neuron Disease" MONDO_0008780 "Disgenet " 14348 HTRA2 "3-@METHYLGLUTACONIC ACIDURIA, TYPE VIII" MONDO_0044723 "Disgenet " 14348 HTRA2 "Parkinson Disease" MONDO_0014796 "Disgenet " 14348 HTRA2 Parkinsonism MONDO_0021095 "Disgenet " 1435 CALB2 "Mesothelioma, malignant" MONDO_0006292 "Disgenet " 14361 IRX5 "Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility" MONDO_0012634 "Disgenet " 1437 CALCA "High blood pressure" MONDO_0005044 "Disgenet " 1437 CALCA "NEUROGENIC INFLAMM" "Disgenet " 1437 CALCA "Fothergill's neuralgia" MONDO_0008599 "Disgenet " 1437 CALCA "Depressed mood" "Disgenet " 1437 CALCA "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1437 CALCA Hypercalcemia MONDO_0001566 "Disgenet " 1437 CALCA "Migraine without aura" MONDO_0100431 "Disgenet " 1437 CALCA Catalepsies "Disgenet " 1437 CALCA "MIGRAINE HEADACHE" MONDO_0005277 "Disgenet " 1437 CALCA Osteoporoses MONDO_0005298 "Disgenet " 14372 SCYL1 "Cholestasis, Acute Liver Failure, and Neurodegeneration" "Disgenet " 14372 SCYL1 "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, WITH HEPATOPATHY" MONDO_0014744 "Disgenet " 14373 GLMN Glomangioma MONDO_0018327 "Disgenet " 14373 GLMN VMGLOM MONDO_0007672 "Disgenet " 14373 GLMN "Congenital abnormality of vein" "Disgenet " 14374 NLRP1 Vitiligo MONDO_0008661 "Disgenet " 14375 PPP1R15A "Cord Injuries, Spinal" MONDO_0043797 "Disgenet " 14377 NHP2 DKCB2 MONDO_0013519 "Disgenet " 14377 NHP2 "dyskeratosis congenita, autosomal recessive 2" MONDO:0013519 "ClinGen " 14377 NHP2 "Dyskeratosis Congenita" MONDO_0015780 "Disgenet " 14378 NOP10 "Dyskeratosis Congenita" MONDO_0015780 "Disgenet " 14378 NOP10 "pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9" MONDO:0957294 "ClinGen " 14378 NOP10 DKCB1 MONDO_0009136 "Disgenet " 14398 SRR Schizophrenias MONDO_0005090 "Disgenet " 144 ACTG1 "Baraitser-Winter cerebrofrontofacial syndrome" MONDO_0017579 "Disgenet " 144 ACTG1 DFNA20 MONDO_0011480 "Disgenet " 144 ACTG1 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 144 ACTG1 "Baraitser-winter syndrome 2" MONDO:0013812 "ClinGen " 144 ACTG1 BRWS2 MONDO_0013812 "Disgenet " 144 ACTG1 Hypoacusis MONDO_0005365 "Disgenet " 144 ACTG1 Coloboma MONDO_0007350 "Disgenet " 14404 ETNPPL Schizophrenias MONDO_0005090 "Disgenet " 14409 SLC25A19 Microcephalies MONDO_0001149 "Disgenet " 14409 SLC25A19 THMD4 MONDO_0013382 "Disgenet " 14409 SLC25A19 "MICROCEPHALY, AMISH TYPE" MONDO_0011790 "Disgenet " 14409 SLC25A19 "Leigh syndrome" MONDO:0009723 "ClinGen " 14409 SLC25A19 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 14415 ELOVL4 "ELOVL4-related maculopathy" MONDO:0700227 "ClinGen " 14415 ELOVL4 "Erythrokeratodermia with ataxia" MONDO_0007574 "Disgenet " 14415 ELOVL4 "FUNDUS FLAVIMACULATUS" MONDO_0019353 "Disgenet " 14415 ELOVL4 STGD3 MONDO_0010819 "Disgenet " 14418 ELOVL1 IKSHD MONDO_0032798 "Disgenet " 1442 CALM1 CPVT4 MONDO_0013966 "Disgenet " 1442 CALM1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 1442 CALM1 "Polymorphic catecholergic ventricular tachycardia" MONDO_0017990 "Disgenet " 1442 CALM1 "Long QT Syndrome" MONDO_0002442 "Disgenet " 1442 CALM1 "long QT syndrome" MONDO:0002442 "ClinGen " 1442 CALM1 "catecholaminergic polymorphic ventricular tachycardia" MONDO:0017990 "ClinGen " 1442 CALM1 LQT14 MONDO_0014548 "Disgenet " 14430 SLC13A3 "LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE" MONDO_0032716 "Disgenet " 14432 TMEM237 CPD4 MONDO_0018772 "Disgenet " 14432 TMEM237 "JOUBERT SYNDROME 14" MONDO_0013745 "Disgenet " 14432 TMEM237 "Joubert syndrome 14" MONDO:0013745 "ClinGen " 14436 RAPH1 "Cancer, Breast" MONDO_0007254 "Disgenet " 14436 RAPH1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 14436 RAPH1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 14449 OPN4 "Affective Disorder, Seasonal" MONDO_0000694 "Disgenet " 1445 CALM2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 1445 CALM2 "catecholaminergic polymorphic ventricular tachycardia" MONDO:0017990 "ClinGen " 1445 CALM2 "long QT syndrome" MONDO:0002442 "ClinGen " 1445 CALM2 "LONG QT SYNDROME 15" MONDO_0014550 "Disgenet " 1445 CALM2 "Depressive neurosis" MONDO_0002050 "Disgenet " 1445 CALM2 "Polymorphic catecholergic ventricular tachycardia" MONDO_0017990 "Disgenet " 1445 CALM2 Depression MONDO_0002050 "Disgenet " 1445 CALM2 "Long QT Syndrome" MONDO_0002442 "Disgenet " 14450 LPIN2 "Majeed syndrome" MONDO:0012316 "ClinGen " 14450 LPIN2 "MAJEED SYNDROME" MONDO_0012316 "Disgenet " 14458 GAB2 Melanoma MONDO_0005105 "Disgenet " 14460 NDRG2 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 14469 SLC26A9 "Cystic Fibrosis" MONDO_0009061 "Disgenet " 14472 SLC26A6 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1449 CALM3 "Polymorphic catecholergic ventricular tachycardia" MONDO_0017990 "Disgenet " 1449 CALM3 "Long QT Syndrome" MONDO_0002442 "Disgenet " 1449 CALM3 "LONG QT SYNDROME 16" MONDO_0032915 "Disgenet " 1449 CALM3 "long QT syndrome" MONDO:0002442 "ClinGen " 1449 CALM3 "catecholaminergic polymorphic ventricular tachycardia" MONDO:0017990 "ClinGen " 14499 MRPS7 "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34" MONDO_0054741 "Disgenet " 145 ACTG2 "Berdon syndrome" MONDO_0100354 "Disgenet " 145 ACTG2 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 145 ACTG2 "Chronic intestinal pseudoobstruction" MONDO_0017574 "Disgenet " 145 ACTG2 "Visceral Myopathy, Familial" MONDO_0016829 "Disgenet " 145 ACTG2 "Idiopathic Intestinal Pseudo-Obstruction" MONDO_0002803 "Disgenet " 14508 MRPS22 "OVARIAN DYSGENESIS 7" MONDO_0020857 "Disgenet " 14508 MRPS22 COXPD5 MONDO_0012718 "Disgenet " 14508 MRPS22 "Primary ovarian failure" MONDO_0005387 "Disgenet " 14508 MRPS22 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 14508 MRPS22 "mitochondrial disease" MONDO:0044970 "ClinGen " 14509 MRPS23 COXPD46 MONDO_0033534 "Disgenet " 14509 MRPS23 "Breast Neoplasms" MONDO_0021100 "Disgenet " 14511 MRPS25 COXPD50 MONDO_0033570 "Disgenet " 14511 MRPS25 "mitochondrial disease" MONDO:0044970 "ClinGen " 14513 MRPS28 "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47" MONDO_0033537 "Disgenet " 14513 MRPS28 "mitochondrial disease" MONDO:0044970 "ClinGen " 14524 SPAG9 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 14530 SP6 "Amelogenesis Imperfecta" MONDO_0007092 "Disgenet " 14537 NPC2 "NIEMANN-PICK DISEASE, TYPE C2" MONDO_0011873 "Disgenet " 14537 NPC2 "Niemann-Pick disease, type C2" MONDO:0011873 "ClinGen " 14537 NPC2 "Niemann-Pick Disease, Type C" MONDO_0018982 "Disgenet " 14537 NPC2 NPC1 MONDO_0009757 "Disgenet " 14537 NPC2 "Niemann Pick Disease" MONDO_0001982 "Disgenet " 14539 RNF213 "Moyamoya Disease" MONDO_0016820 "Disgenet " 14539 RNF213 "Moyamoya angiopathy" "Disgenet " 14539 RNF213 CAD MONDO_0005010 "Disgenet " 14539 RNF213 "Cerebrovascular accident" MONDO_0005098 "Disgenet " 14540 WNK1 "Hereditary Sensory Autonomic Neuropathy, Type 2" MONDO_0019941 "Disgenet " 14540 WNK1 HSN2A MONDO_0024309 "Disgenet " 14540 WNK1 "neuropathy, hereditary sensory and autonomic, type 2A" MONDO:0024309 "ClinGen " 14540 WNK1 "High blood pressure" MONDO_0005044 "Disgenet " 14540 WNK1 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 14540 WNK1 CRC MONDO_0005335 "Disgenet " 14540 WNK1 "Hereditary Sensory Neuropathies" MONDO_0015364 "Disgenet " 14540 WNK1 "Hereditary Sensory and Autonomic Neuropathies" MONDO_0015364 "Disgenet " 14540 WNK1 "Hereditary sensory and autonomic neuropathy, type II (disorder)" MONDO_0019941 "Disgenet " 14540 WNK1 Pseudohypoaldosteronism MONDO_0018638 "Disgenet " 14540 WNK1 "Cancer, Breast" MONDO_0007254 "Disgenet " 14544 WNK4 "High blood pressure" MONDO_0005044 "Disgenet " 14544 WNK4 Pseudohypoaldosteronism MONDO_0018638 "Disgenet " 14544 WNK4 PHA2B MONDO_0013777 "Disgenet " 1455 CALR Myelofibrosis MONDO_0009692 "Disgenet " 1455 CALR "Idiopathic thrombocythemia" MONDO_0005029 "Disgenet " 1455 CALR "Myelosclerosis with myeloid metaplasia" MONDO_0800305 "Disgenet " 1455 CALR Thrombocytoses MONDO_0002249 "Disgenet " 1455 CALR "Myeloid neoplasia" MONDO_0005170 "Disgenet " 1455 CALR "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 1455 CALR Psychosis MONDO_0005485 "Disgenet " 1455 CALR "Unspecified nonorganic psychosis" "Disgenet " 1455 CALR "Disorder, Schizoaffective" MONDO_0005487 "Disgenet " 1455 CALR "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 1455 CALR "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1455 CALR "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1455 CALR "Neuroendocrine Tumors" MONDO_0019496 "Disgenet " 1455 CALR "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 1455 CALR "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 1455 CALR "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 14550 CDHR1 "CONE-ROD DYSTROPHY 15" MONDO_0013348 "Disgenet " 14550 CDHR1 "Retinal dystrophy" MONDO_0019118 "Disgenet " 14550 CDHR1 "retinitis pigmentosa 65" MONDO:0800352 "ClinGen " 14550 CDHR1 "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 14550 CDHR1 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 14552 IKBKE "Depressions, Unipolar" MONDO_0002050 "Disgenet " 14552 IKBKE "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 14558 CLEC7A "Candidiases, Chronic Mucocutaneous" MONDO_0015279 "Disgenet " 14561 ARHGEF9 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 14561 ARHGEF9 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 14561 ARHGEF9 "Childhood autism" MONDO_0005260 "Disgenet " 14561 ARHGEF9 EIEE8 MONDO_0010375 "Disgenet " 14561 ARHGEF9 Epilepsies MONDO_0005027 "Disgenet " 14561 ARHGEF9 "X-linked complex neurodevelopmental disorder" MONDO:0100148 "ClinGen " 14565 SORBS1 "Cancer, Breast" MONDO_0007254 "Disgenet " 14565 SORBS1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 14565 SORBS1 Obesity MONDO_0019182 "Disgenet " 14565 SORBS1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 14568 STK33 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 14579 VPS45 "NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE" MONDO_0014118 "Disgenet " 14580 ARHGEF11 Schizophrenias MONDO_0005090 "Disgenet " 14581 PINK1 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 14581 PINK1 "Glioblastoma multiforme" MONDO_0018177 "Disgenet " 14581 PINK1 Neuroblastoma MONDO_0005072 "Disgenet " 14581 PINK1 Schizophrenias MONDO_0005090 "Disgenet " 14581 PINK1 PARK6 MONDO_0011613 "Disgenet " 14581 PINK1 Parkinsonism MONDO_0021095 "Disgenet " 14581 PINK1 "Parkinson Disease" MONDO_0014796 "Disgenet " 14581 PINK1 "Early onset Parkinson's disease" MONDO_0017279 "Disgenet " 14581 PINK1 "Parkinson disease" MONDO:0005180 "ClinGen " 14583 VPS11 Dystonia MONDO_0003441 "Disgenet " 14583 VPS11 Leukoencephalopathy "Disgenet " 14583 VPS11 HLD12 MONDO_0014732 "Disgenet " 14583 VPS11 "VPS11-related neurological disorder" MONDO:0100617 "ClinGen " 14584 VPS16 Dystonia MONDO_0003441 "Disgenet " 14587 ING3 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 14592 NET1 "Cancer, Breast" MONDO_0007254 "Disgenet " 14598 IMMP2L "Childhood autism" MONDO_0005260 "Disgenet " 1460 CAMK2A "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 1460 CAMK2A MRD53 MONDO_0030919 "Disgenet " 1460 CAMK2A MRT63 MONDO_0054861 "Disgenet " 1460 CAMK2A "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 1460 CAMK2A "Global developmental delay" "Disgenet " 1460 CAMK2A Depression MONDO_0002050 "Disgenet " 1460 CAMK2A "Depressive neurosis" MONDO_0002050 "Disgenet " 1460 CAMK2A "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 1460 CAMK2A "Bipolar Disorders" MONDO_0004985 "Disgenet " 14604 AMN "Deficiencies, Vitamin B12" MONDO_0000424 "Disgenet " 14604 AMN MGA1 MONDO_0009853 "Disgenet " 14604 AMN "Anemia, Megaloblastic" MONDO_0001700 "Disgenet " 1461 CAMK2B "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 1461 CAMK2B "Global developmental delay" "Disgenet " 1461 CAMK2B Schizophrenias MONDO_0005090 "Disgenet " 1461 CAMK2B MRD54 MONDO_0030920 "Disgenet " 1461 CAMK2B "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 1462 CAMK2D "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 14620 TES "Primary Glioblastoma" MONDO_0018177 "Disgenet " 14620 TES Glioblastoma MONDO_0018177 "Disgenet " 14624 CDCA3 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 14628 CDCA7 ICF3 MONDO_0014828 "Disgenet " 14628 CDCA7 "immunodeficiency-centromeric instability-facial anomalies syndrome 3" MONDO:0014828 "ClinGen " 14628 CDCA7 CIID MONDO_0000133 "Disgenet " 14629 CDCA8 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1463 CAMK2G "Severe mental retardation" MONDO_0010402 "Disgenet " 1463 CAMK2G "intellectual developmental disorder 59" MONDO:0032795 "ClinGen " 1463 CAMK2G "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 14631 ADAMTSL2 "ACROMICRIC DYSPLASIA" MONDO_0007055 "Disgenet " 14631 ADAMTSL2 "geleophysic dysplasia" MONDO_0007055 "Disgenet " 14631 ADAMTSL2 GPHYSD1 MONDO_0000127 "Disgenet " 14633 ADAMTSL3 Schizophrenias MONDO_0005090 "Disgenet " 14637 ABCA12 ICR2B MONDO_0011026 "Disgenet " 14637 ABCA12 "Ichthyosis, Lamellar" MONDO_0011485 "Disgenet " 14637 ABCA12 Ichthyosis MONDO_0015947 "Disgenet " 14637 ABCA12 "Congenital Ichthyosiform Erythrodermas" "Disgenet " 14637 ABCA12 "Harlequin type ichthyosis" MONDO_0009443 "Disgenet " 14637 ABCA12 "Harlequin fetus" MONDO_0017778 "Disgenet " 14638 ABCA13 Schizophrenias MONDO_0005090 "Disgenet " 14638 ABCA13 "Bipolar Disorders" MONDO_0004985 "Disgenet " 14638 ABCA13 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 1464 CAMK4 "Cocaine dependence" MONDO_0005186 "Disgenet " 14660 EGLN2 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 14661 EGLN3 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 14668 MMEL1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 14668 MMEL1 "primary biliary cirrhosis" MONDO_0005388 "Disgenet " 14673 FYCO1 "Cataract, autosomal recessive congenital 2" MONDO_0012395 "Disgenet " 14673 FYCO1 "Congenital cataract" MONDO_0008925 "Disgenet " 14677 DEAF1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 14677 DEAF1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 14677 DEAF1 MRD24 MONDO_0014357 "Disgenet " 14677 DEAF1 "Childhood autism" MONDO_0005260 "Disgenet " 14677 DEAF1 "Depressive neurosis" MONDO_0002050 "Disgenet " 14677 DEAF1 Depression MONDO_0002050 "Disgenet " 14677 DEAF1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 14677 DEAF1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 14685 F11R "High blood pressure" MONDO_0005044 "Disgenet " 14686 JAM2 BSPDC MONDO_0008947 "Disgenet " 14687 LYVE1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1470 CAMKK2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1470 CAMKK2 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 1470 CAMKK2 Schizophrenias MONDO_0005090 "Disgenet " 1471 CAMLG "congenital disorder of glycosylation, type IIz" MONDO:0859357 "ClinGen " 1474 CAPG "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 1476 CAPN1 "SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE" MONDO_0014827 "Disgenet " 1476 CAPN1 Melanoma MONDO_0005105 "Disgenet " 1477 CAPN10 Obesity MONDO_0019182 "Disgenet " 1477 CAPN10 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 1477 CAPN10 "Ovary Syndrome, Polycystic" MONDO_0008487 "Disgenet " 1477 CAPN10 CRC MONDO_0005335 "Disgenet " 1480 CAPN3 LGMD2A MONDO_0015152 "Disgenet " 1480 CAPN3 "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 1480 CAPN3 LGMD2B MONDO_0009676 "Disgenet " 1480 CAPN3 "MYOSITIS, EOSINOPHILIC" MONDO_0009675 "Disgenet " 1480 CAPN3 "muscular dystrophy, limb-girdle, autosomal dominant" MONDO:0015151 "ClinGen " 1480 CAPN3 "autosomal recessive limb-girdle muscular dystrophy" MONDO:0015152 "ClinGen " 1480 CAPN3 "limb girdle muscular dystrophy" MONDO_0016971 "Disgenet " 1480 CAPN3 "Limb-girdle muscular dystrophy autosomal recessive" MONDO_0015152 "Disgenet " 1480 CAPN3 Myopathy MONDO_0003939 "Disgenet " 1482 CAPN5 ADNIV MONDO_0100450 "Disgenet " 1482 CAPN5 "Proliferative Vitreoretinopathies" MONDO_0100450 "Disgenet " 1482 CAPN5 "CAPN5-related vitreoretinopathy" MONDO:0100450 "ClinGen " 14857 COG5 "COG5-congenital disorder of glycosylation" MONDO:0013325 "ClinGen " 14857 COG5 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 14857 COG5 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi" MONDO_0013325 "Disgenet " 14866 HHIP COPD MONDO_0005002 "Disgenet " 14866 HHIP "Liver cell carcinoma" MONDO_0007256 "Disgenet " 14872 ASPN Keloid MONDO_0005348 "Disgenet " 14880 GTPBP3 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 14880 GTPBP3 "Leigh syndrome" MONDO:0009723 "ClinGen " 14880 GTPBP3 "mitochondrial disease" MONDO:0044970 "ClinGen " 14880 GTPBP3 "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23" MONDO_0014525 "Disgenet " 14881 ZEB2 "Disease, Hirschsprung" MONDO_0018309 "Disgenet " 14881 ZEB2 "Mowat-Wilson syndrome" MONDO:0009341 "ClinGen " 14881 ZEB2 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 14881 ZEB2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 14881 ZEB2 "MOWAT-WILSON SYNDROME" MONDO_0009341 "Disgenet " 14881 ZEB2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 14881 ZEB2 CRC MONDO_0005335 "Disgenet " 14881 ZEB2 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 14886 DNAJB4 "CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE" MONDO_0957224 "Disgenet " 14888 DNAJB6 LGMD1E "Disgenet " 14888 DNAJB6 "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 14888 DNAJB6 "Myofibrillar myopathy" MONDO_0018943 "Disgenet " 14888 DNAJB6 LGMD1 MONDO_0015151 "Disgenet " 14888 DNAJB6 "limb girdle muscular dystrophy" MONDO_0016971 "Disgenet " 14888 DNAJB6 "muscular dystrophy, limb-girdle, autosomal dominant" MONDO:0015151 "ClinGen " 14888 DNAJB6 LGMD1D MONDO_0021018 "Disgenet " 14889 DNAJB11 "Polycystic Kidney, Autosomal Dominant" MONDO_0004691 "Disgenet " 14889 DNAJB11 "autosomal dominant polycystic kidney disease" MONDO:0004691 "ClinGen " 14889 DNAJB11 ciliopathy MONDO:0005308 "ClinGen " 14889 DNAJB11 "KIDNEY CYST" MONDO_0002473 "Disgenet " 14889 DNAJB11 "Polycystic kidney" MONDO_0020642 "Disgenet " 14896 SPTBN4 "neurodevelopmental disorder with hypotonia, neuropathy, and deafness" MONDO:0060496 "ClinGen " 14897 ITPKC "Kawasaki's disease" MONDO_0012727 "Disgenet " 14903 SULT4A1 Schizophrenias MONDO_0005090 "Disgenet " 14906 NIN SCKL7 MONDO_0013922 "Disgenet " 14929 SIRT1 "monogenic diabetes" MONDO:0015967 "ClinGen " 14929 SIRT1 "Chorea, Huntington" MONDO_0011671 "Disgenet " 14929 SIRT1 "Fatty Liver" MONDO_0004790 "Disgenet " 14929 SIRT1 "Syndrome X, Reaven" MONDO_0011565 "Disgenet " 14929 SIRT1 Schizophrenias MONDO_0005090 "Disgenet " 14929 SIRT1 "Affective Disorders" MONDO_0005371 "Disgenet " 14929 SIRT1 "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 14929 SIRT1 "Cardiac Disease" MONDO_0005267 "Disgenet " 14929 SIRT1 Colitides MONDO_0005534 "Disgenet " 14929 SIRT1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 14929 SIRT1 "Brain Neoplasms" MONDO_0021211 "Disgenet " 14929 SIRT1 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 14929 SIRT1 "Glucose Intolerance" MONDO_0001076 "Disgenet " 14929 SIRT1 "lung injury" "Disgenet " 14929 SIRT1 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 14929 SIRT1 "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 14929 SIRT1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 14929 SIRT1 "Degenerative disease of nervous system, unspecified" MONDO_0005559 "Disgenet " 14929 SIRT1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 14929 SIRT1 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 14929 SIRT1 "Heart failure" MONDO_0005252 "Disgenet " 14929 SIRT1 "Acute kidney injury" MONDO_0002492 "Disgenet " 14929 SIRT1 "Congestive heart failure" MONDO_0005252 "Disgenet " 14929 SIRT1 Retinopathy MONDO_0005283 "Disgenet " 14929 SIRT1 Pneumonia MONDO_0005249 "Disgenet " 14929 SIRT1 "degenerative disorders" MONDO_0005559 "Disgenet " 14929 SIRT1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 14929 SIRT1 "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 14929 SIRT1 Atherosclerosis MONDO_0005311 "Disgenet " 14929 SIRT1 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 14929 SIRT1 Obesity MONDO_0019182 "Disgenet " 14929 SIRT1 "Fatty Liver, Alcoholic" MONDO_0021104 "Disgenet " 14929 SIRT1 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 1493 CARS1 "Inflammatory Pseudotumors" MONDO_0015798 "Disgenet " 14931 SIRT3 "Mouth Neoplasm" MONDO_0021245 "Disgenet " 14931 SIRT3 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 14931 SIRT3 "Diabetes, Gestational" MONDO_0005406 "Disgenet " 14931 SIRT3 Obesity MONDO_0019182 "Disgenet " 14934 SIRT6 "Fatty Liver" MONDO_0004790 "Disgenet " 14934 SIRT6 "cardiac toxicity" "Disgenet " 14935 SIRT7 "Fatty Liver" MONDO_0004790 "Disgenet " 14937 PIGS GPIBD18 MONDO_0029140 "Disgenet " 14937 PIGS "glycosylphosphatidylinositol biosynthesis defect 18" MONDO:0029140 "ClinGen " 14938 PIGT "multiple congenital anomalies-hypotonia-seizures syndrome 3" MONDO:0014165 "ClinGen " 14938 PIGT MCAHS3 MONDO_0014165 "Disgenet " 14938 PIGT "Marchiafava Micheli Syndrome" MONDO_0100244 "Disgenet " 1494 ALX1 "ALX1 (aristaless-like homeobox 1) related frontonasal dysplasia" MONDO_0013271 "Disgenet " 1494 ALX1 "frontonasal dysplasia (diagnosis)" MONDO_0016643 "Disgenet " 1494 ALX1 FND3 MONDO_0013271 "Disgenet " 1494 ALX1 "frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome" MONDO:0013271 "ClinGen " 14966 PXDN ASMD MONDO_0019503 "Disgenet " 14966 PXDN "anterior segment dysgenesis 7" MONDO:0010015 "ClinGen " 14966 PXDN COPOA MONDO_0010015 "Disgenet " 14974 SNX10 OPTB8 MONDO_0014040 "Disgenet " 14974 SNX10 "autosomal recessive osteopetrosis 8" MONDO:0014040 "ClinGen " 14977 SNX14 "autosomal recessive spinocerebellar ataxia 20" MONDO:0014601 "ClinGen " 14977 SNX14 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 14977 SNX14 "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20" MONDO_0014601 "Disgenet " 14987 ASAP3 CRC MONDO_0005335 "Disgenet " 1499 CASP1 Obesity MONDO_0019182 "Disgenet " 1499 CASP1 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 1499 CASP1 Pneumonia MONDO_0005249 "Disgenet " 1500 CASP10 "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 1500 CASP10 "AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME" MONDO_0011158 "Disgenet " 1500 CASP10 ALPS2A MONDO_0011383 "Disgenet " 1500 CASP10 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 1500 CASP10 "autoimmune lymphoproliferative syndrome type 2A" MONDO:0011383 "ClinGen " 1500 CASP10 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 1504 CASP3 "Parkinson Disease" MONDO_0014796 "Disgenet " 1504 CASP3 "Hemorrhages, Subarachnoid" MONDO_0005099 "Disgenet " 1504 CASP3 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 1504 CASP3 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 1504 CASP3 "Ulcerative colitis" MONDO_0005101 "Disgenet " 1504 CASP3 neurotoxicity MONDO_0005527 "Disgenet " 1504 CASP3 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 1504 CASP3 Schizophrenias MONDO_0005090 "Disgenet " 1504 CASP3 "Alzheimer Disease" MONDO_0012630 "Disgenet " 1504 CASP3 "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 1504 CASP3 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 1504 CASP3 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 1504 CASP3 "Cord Injuries, Spinal" MONDO_0043797 "Disgenet " 1504 CASP3 "Status Epilepticus" MONDO_0002125 "Disgenet " 1504 CASP3 Sepsis MONDO_0005229 "Disgenet " 1504 CASP3 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 1504 CASP3 "Diseases, Nervous System" MONDO_0005071 "Disgenet " 1504 CASP3 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 1508 CASP7 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 1508 CASP7 "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 1508 CASP7 "Alzheimer Disease" MONDO_0012630 "Disgenet " 1508 CASP7 "Cancer, Breast" MONDO_0007254 "Disgenet " 1508 CASP7 "Breast Neoplasms" MONDO_0021100 "Disgenet " 1509 CASP8 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 1509 CASP8 "Lung Neoplasm" MONDO_0002732 "Disgenet " 1509 CASP8 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 1509 CASP8 "Cancer, Lung" MONDO_0008903 "Disgenet " 1509 CASP8 "Cancer, Breast" MONDO_0007254 "Disgenet " 1509 CASP8 ALL MONDO_0004967 "Disgenet " 1509 CASP8 Adenocarcinoma MONDO_0004970 "Disgenet " 1509 CASP8 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 1509 CASP8 Melanoma MONDO_0005105 "Disgenet " 1509 CASP8 "AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME" MONDO_0011158 "Disgenet " 1509 CASP8 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 1509 CASP8 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 1509 CASP8 "Breast Neoplasms" MONDO_0021100 "Disgenet " 1509 CASP8 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 1509 CASP8 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 1509 CASP8 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 1509 CASP8 ALPS2B MONDO_0017979 "Disgenet " 1509 CASP8 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1511 CASP9 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 1511 CASP9 "Parkinson Disease" MONDO_0014796 "Disgenet " 1511 CASP9 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 1511 CASP9 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 1511 CASP9 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 1511 CASP9 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1512 CASQ1 Myopathy MONDO_0003939 "Disgenet " 1512 CASQ1 "Aggregate Myopathies, Tubular" MONDO_0008051 "Disgenet " 1513 CASQ2 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 1513 CASQ2 "Polymorphic ventricular tachycardia" MONDO_0020575 "Disgenet " 1513 CASQ2 "VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2" MONDO_0017990 "Disgenet " 1513 CASQ2 "Polymorphic catecholergic ventricular tachycardia" MONDO_0017990 "Disgenet " 1513 CASQ2 "Ventricular tachycardia" MONDO_0013529 "Disgenet " 1513 CASQ2 Cardiomyopathy MONDO_0004994 "Disgenet " 1513 CASQ2 "catecholaminergic polymorphic ventricular tachycardia" MONDO:0017990 "ClinGen " 1513 CASQ2 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 1513 CASQ2 "catecholaminergic polymorphic ventricular tachycardia" MONDO:0017990 "ClinGen " 1513 CASQ2 "Long QT Syndrome" MONDO_0002442 "Disgenet " 1513 CASQ2 VTSIP MONDO_0017990 "Disgenet " 1515 CAST "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 1515 CAST PLACK MONDO_0014574 "Disgenet " 1515 CAST Psoriases MONDO_0005083 "Disgenet " 1515 CAST "Parkinson Disease" MONDO_0014796 "Disgenet " 1516 CAT "Gastric ulcer" MONDO_0001126 "Disgenet " 1516 CAT "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 1516 CAT "Congestive heart failure" MONDO_0005252 "Disgenet " 1516 CAT "Heart failure" MONDO_0005252 "Disgenet " 1516 CAT "Bile Duct Obstructions" MONDO_0001751 "Disgenet " 1516 CAT "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 1516 CAT "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 1516 CAT Hyperthyroidism MONDO_0004425 "Disgenet " 1516 CAT "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 1516 CAT Melanoma MONDO_0005105 "Disgenet " 1516 CAT Vitiligo MONDO_0008661 "Disgenet " 1516 CAT "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1516 CAT "Fatty Liver" MONDO_0004790 "Disgenet " 1516 CAT Psoriases MONDO_0005083 "Disgenet " 1516 CAT "High blood pressure" MONDO_0005044 "Disgenet " 1516 CAT Asthma MONDO_0004979 "Disgenet " 1516 CAT "Damage, Reperfusion" MONDO_0005203 "Disgenet " 1516 CAT "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 1516 CAT "Bone Losses, Perimenopausal" MONDO_0008159 "Disgenet " 1516 CAT "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 1516 CAT "Glioma, malignant" MONDO_0100342 "Disgenet " 1516 CAT "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 1516 CAT "Depressions, Unipolar" MONDO_0002050 "Disgenet " 1516 CAT "Childhood autism" MONDO_0005260 "Disgenet " 1516 CAT Gliomas MONDO_0021042 "Disgenet " 1516 CAT "Diseases, Lung" MONDO_0005275 "Disgenet " 1516 CAT "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 1516 CAT "Status Epilepticus" MONDO_0002125 "Disgenet " 1516 CAT "Essential hypertension" MONDO_0007781 "Disgenet " 1516 CAT "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 1516 CAT "Acute Lung Injury" MONDO_0015796 "Disgenet " 1516 CAT "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 1516 CAT "Behcet Syndrome" MONDO_0007191 "Disgenet " 1516 CAT "Diabetic Neuropathies" MONDO_0006626 "Disgenet " 1516 CAT "Senile cataract" MONDO_0004847 "Disgenet " 1516 CAT "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 1516 CAT "Neuritides, Optic" MONDO_0005885 "Disgenet " 1516 CAT Mesothelioma MONDO_0005065 "Disgenet " 1516 CAT "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 1516 CAT "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 1516 CAT Alcoholism MONDO_0002046 "Disgenet " 1516 CAT Cardiomyopathy MONDO_0004994 "Disgenet " 1516 CAT "cardiac toxicity" "Disgenet " 1516 CAT "ISCHEMIC ENCEPH" MONDO_0005299 "Disgenet " 1516 CAT Keratoses MONDO_0006566 "Disgenet " 1516 CAT acatalasia MONDO:0013571 "ClinGen " 1516 CAT Acatalasia MONDO_0013571 "Disgenet " 1516 CAT "Diabetes Mellitus" MONDO_0005015 "Disgenet " 1516 CAT "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 1516 CAT "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 1516 CAT "Breast Neoplasms" MONDO_0021100 "Disgenet " 1527 CAV1 "Pulmonary arterial hypertension" MONDO_0015924 "Disgenet " 1527 CAV1 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 1527 CAV1 "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 1527 CAV1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 1527 CAV1 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 1527 CAV1 carcinogenesis "Disgenet " 1527 CAV1 Lipodystrophies MONDO_0006573 "Disgenet " 1527 CAV1 "High blood pressure" MONDO_0005044 "Disgenet " 1527 CAV1 "Familial generalized lipodystrophy" MONDO_0006536 "Disgenet " 1527 CAV1 "Primary open-angle glaucoma" MONDO_0100553 "Disgenet " 1527 CAV1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 1527 CAV1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 1527 CAV1 "Familial primary pulmonary hypertension" MONDO_0001999 "Disgenet " 1527 CAV1 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 1527 CAV1 Schizophrenias MONDO_0005090 "Disgenet " 1527 CAV1 "OVARIAN CANCER, EPITHELIAL" MONDO_0018364 "Disgenet " 1527 CAV1 "Koberling Dunnigan Syndrome" MONDO_0020088 "Disgenet " 1527 CAV1 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 1527 CAV1 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 1527 CAV1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 1527 CAV1 "LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3" MONDO_0012923 "Disgenet " 1527 CAV1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1527 CAV1 "Cancer, Breast" MONDO_0007254 "Disgenet " 1527 CAV1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 1527 CAV1 "congenital generalized lipodystrophy type 3" MONDO:0012923 "ClinGen " 1527 CAV1 "amyotrophic lateral sclerosis" MONDO:0004976 "ClinGen " 1527 CAV1 lipodystrophy MONDO:0006573 "ClinGen " 1527 CAV1 "pulmonary arterial hypertension" MONDO:0015924 "ClinGen " 1528 CAV2 "amyotrophic lateral sclerosis" MONDO:0004976 "ClinGen " 1528 CAV2 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 1528 CAV2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1528 CAV2 "Primary open-angle glaucoma" MONDO_0100553 "Disgenet " 1529 CAV3 "limb girdle muscular dystrophy" MONDO_0016971 "Disgenet " 1529 CAV3 "Qualitative or quantitative defects of caveolin-3" MONDO_0016146 "Disgenet " 1529 CAV3 LQT9 MONDO_0012736 "Disgenet " 1529 CAV3 SIDS "Disgenet " 1529 CAV3 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 1529 CAV3 MPDT MONDO_0013686 "Disgenet " 1529 CAV3 "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 1529 CAV3 RMD MONDO_0011634 "Disgenet " 1529 CAV3 "long QT syndrome" MONDO:0002442 "ClinGen " 1529 CAV3 caveolinopathy MONDO:0016146 "ClinGen " 1529 CAV3 "Cardiomyopathy, Hypertrophic, Familial" MONDO_0024573 "Disgenet " 1529 CAV3 "Long QT Syndrome" MONDO_0002442 "Disgenet " 1529 CAV3 "Inherited long QT syndrome" MONDO_0019171 "Disgenet " 1529 CAV3 Cardiomyopathy MONDO_0004994 "Disgenet " 1529 CAV3 CMH1 MONDO_0024573 "Disgenet " 1530 MICU1 "mitochondrial disease" MONDO:0044970 "ClinGen " 1530 MICU1 "MYOPATHY WITH EXTRAPYRAMIDAL SIGNS" MONDO_0014300 "Disgenet " 1530 MICU1 Myopathy MONDO_0003939 "Disgenet " 1530 MICU1 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 1535 RUNX1T1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 1535 RUNX1T1 CRC MONDO_0005335 "Disgenet " 1535 RUNX1T1 "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 1535 RUNX1T1 "Acute Myeloid Leukemia with t(8;21)(q22;q22)(AML1(CBFa)/ETO)" MONDO_0850492 "Disgenet " 1539 CBFB "Acute myelomonocytic leukemia" MONDO_0018871 "Disgenet " 1539 CBFB "acute myelomonocytic leukemia with abnormal marrow eosinophils (diagnosis)" MONDO_0020316 "Disgenet " 1539 CBFB "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 1539 CBFB "Cancer, Breast" MONDO_0007254 "Disgenet " 1541 CBL "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 1541 CBL "Hematologic Neoplasm" MONDO_0044881 "Disgenet " 1541 CBL "NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA" MONDO_0013308 "Disgenet " 1541 CBL Cryptorchism MONDO_0009047 "Disgenet " 1541 CBL "Global developmental delay" "Disgenet " 1541 CBL NSLL MONDO_0013308 "Disgenet " 1541 CBL "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 1541 CBL "Myeloid neoplasia" MONDO_0005170 "Disgenet " 1541 CBL RASopathy MONDO_0021060 "Disgenet " 1541 CBL Angiitides MONDO_0018882 "Disgenet " 1541 CBL "Noonan like syndrome" MONDO_0020297 "Disgenet " 1541 CBL "Child Development Disorder" MONDO_0005287 "Disgenet " 1541 CBL "Disorder, Myeloproliferative" MONDO_0020076 "Disgenet " 1541 CBL "Noonan Syndrome" MONDO_0018997 "Disgenet " 1541 CBL JMML MONDO_0011908 "Disgenet " 1541 CBL "CBL-related disorder" MONDO:0013308 "ClinGen " 1542 CBLB "Multiple Sclerosis" MONDO_0005301 "Disgenet " 1542 CBLB "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 1542 CBLB "carcinoma of stomach (diagnosis)" MONDO_0004950 "Disgenet " 1542 CBLB "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 15448 GOLIM4 "Cancer, Breast" MONDO_0007254 "Disgenet " 15451 GOLM1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 15454 SHOC2 "TOSTI SYNDROME" MONDO_0011899 "Disgenet " 15454 SHOC2 "Cardiofaciocutaneous Syndrome" MONDO_0007265 "Disgenet " 15454 SHOC2 "cardiofaciocutaneous syndrome" MONDO:0015280 "ClinGen " 15454 SHOC2 "Costello syndrome" MONDO:0009026 "ClinGen " 15454 SHOC2 "Noonan syndrome" MONDO:0018997 "ClinGen " 15454 SHOC2 "Noonan syndrome-like disorder with loose anagen hair" MONDO:0011899 "ClinGen " 15454 SHOC2 RASopathy MONDO_0021060 "Disgenet " 15454 SHOC2 "Noonan syndrome-like disorder with loose anagen hair (disorder)" MONDO_0011899 "Disgenet " 15454 SHOC2 "Noonan Syndrome" MONDO_0018997 "Disgenet " 15455 MBTPS2 OI19 MONDO_0049223 "Disgenet " 15455 MBTPS2 OLMSX MONDO_0010486 "Disgenet " 15455 MBTPS2 "Olmstead syndrome" MONDO_0031421 "Disgenet " 15455 MBTPS2 "Bresek Syndrome" MONDO_0019414 "Disgenet " 15455 MBTPS2 "Ichthyosis follicularis atrichia photophobia syndrome" MONDO_0100212 "Disgenet " 15455 MBTPS2 KFSDX MONDO_0010637 "Disgenet " 15455 MBTPS2 "IFAP syndrome 1, with or without BRESHECK syndrome" MONDO:0100213 "ClinGen " 15456 MBTPS1 "spondyloepiphyseal dysplasia, kondo-fu type" MONDO:0032721 "ClinGen " 15456 MBTPS1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 15456 MBTPS1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 15456 MBTPS1 "SED WITH ELEVATED BLOOD LYSOSOMAL ENZYMES" MONDO_0032721 "Disgenet " 15459 P2RX2 DFNA41 MONDO_0011994 "Disgenet " 15459 P2RX2 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 1546 SERPINH1 "Osteogenesis Imperfecta" MONDO_0012591 "Disgenet " 1546 SERPINH1 OI10 MONDO_0013459 "Disgenet " 15461 MANF "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 15461 MANF "Cancer, Breast" MONDO_0007254 "Disgenet " 15469 DNAJC6 "Parkinson Disease" MONDO_0014796 "Disgenet " 15469 DNAJC6 "PARKINSON DISEASE 19A, JUVENILE-ONSET" MONDO_0014231 "Disgenet " 15469 DNAJC6 "Early onset Parkinson's disease" MONDO_0017279 "Disgenet " 15472 ALDH1A2 Schizophrenias MONDO_0005090 "Disgenet " 15472 ALDH1A2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 15474 SHANK1 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 15474 SHANK1 "Anxiety Disorder" MONDO_0005618 "Disgenet " 15474 SHANK1 Schizophrenias MONDO_0005090 "Disgenet " 15474 SHANK1 "Childhood autism" MONDO_0005260 "Disgenet " 15478 ADAM33 Asthma MONDO_0004979 "Disgenet " 15478 ADAM33 "Breast Neoplasms" MONDO_0021100 "Disgenet " 15478 ADAM33 "Bronchial Hyperreactivities" "Disgenet " 15478 ADAM33 COPD MONDO_0005002 "Disgenet " 1548 CBR1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 15480 DIAPH3 "auditory neuropathy" MONDO:0021944 "ClinGen " 15480 DIAPH3 "Auditory neuropathy" MONDO_0021944 "Disgenet " 15480 DIAPH3 NSDAN MONDO_0012196 "Disgenet " 15488 IL23A "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 15488 IL23A "Atopic Eczema" MONDO_0011292 "Disgenet " 15488 IL23A Psoriases MONDO_0005083 "Disgenet " 15492 ANKH "Familial calcium pyrophosphate deposition disease" "Disgenet " 15492 ANKH CMDD MONDO_0015465 "Disgenet " 15492 ANKH Chondrocalcinoses MONDO_0001314 "Disgenet " 15492 ANKH Pseudogout MONDO_0001314 "Disgenet " 15492 ANKH "Genetic craniotubular bone dysplasias and hyperostoses" MONDO_0015465 "Disgenet " 15492 ANKH "CHONDROCALCINOSIS 2" MONDO_0007319 "Disgenet " 1550 CBS Homocystinuria MONDO_0004737 "Disgenet " 1550 CBS hyperhomocysteinemia MONDO_0004743 "Disgenet " 1550 CBS "Cystathionine beta-synthase deficiency" MONDO_0004737 "Disgenet " 1550 CBS "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 1550 CBS "Coronary Disease" MONDO_0005010 "Disgenet " 1550 CBS "High blood pressure" MONDO_0005044 "Disgenet " 1550 CBS "Cardiovascular Disease" MONDO_0004995 "Disgenet " 1550 CBS "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 1550 CBS "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 1550 CBS Schizophrenias MONDO_0005090 "Disgenet " 1550 CBS "Homocystinuria, Pyridoxine-Responsive" "Disgenet " 1550 CBS "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 1550 CBS Malnutrition MONDO_0006873 "Disgenet " 1550 CBS "classic homocystinuria" MONDO:0009352 "ClinGen " 1550 CBS "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 15505 MBOAT7 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 15505 MBOAT7 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 15505 MBOAT7 "Alcoholic Liver Cirrhosis" MONDO_0006644 "Disgenet " 15508 PUS1 "MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1" MONDO_0000863 "Disgenet " 15508 PUS1 "MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA" MONDO_0000863 "Disgenet " 15508 PUS1 "mitochondrial disease" MONDO:0044970 "ClinGen " 1551 CBX1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 15511 VANGL2 "Defect, Neural Tube" MONDO_0018075 "Disgenet " 15511 VANGL2 "Bifida, Spina" MONDO_0019351 "Disgenet " 15512 VANGL1 "Caudal regression syndrome" MONDO_0010831 "Disgenet " 15512 VANGL1 "Defect, Neural Tube" MONDO_0018075 "Disgenet " 15514 PICALM "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 15514 PICALM "Alzheimer Disease" MONDO_0012630 "Disgenet " 15514 PICALM "Cognitive Dysfunction" "Disgenet " 15514 PICALM "Precursor T-cell lymphoblastic leukaemia" MONDO_0020512 "Disgenet " 15516 XYLT1 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 15516 XYLT1 "Pseudoxanthoma Elasticum" MONDO_0009925 "Disgenet " 15516 XYLT1 "Desbuquois syndrome" MONDO_0015426 "Disgenet " 15517 XYLT2 SOS MONDO_0011604 "Disgenet " 15519 BOP1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 1552 CBX2 SRXY5 MONDO_0013120 "Disgenet " 15520 LPAR6 LAH3 MONDO_0010206 "Disgenet " 15520 LPAR6 Hypotrichoses MONDO_0003037 "Disgenet " 15523 KCNIP3 "Cancer, Breast" MONDO_0007254 "Disgenet " 15532 JAM3 "HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS" MONDO_0013394 "Disgenet " 15533 SPRY4 "Syndrome, Kallmann's" MONDO_0013961 "Disgenet " 15533 SPRY4 HH17 MONDO_0014102 "Disgenet " 15533 SPRY4 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 15534 TEKT1 "primary ciliary dyskinesia" MONDO:0016575 "ClinGen " 1554 CBX4 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 15559 CHCHD10 "mitochondrial disease" MONDO:0044970 "ClinGen " 15559 CHCHD10 "frontotemporal dementia and/or amyotrophic lateral sclerosis 2" MONDO:0014395 "ClinGen " 15559 CHCHD10 FTDMND MONDO_0007105 "Disgenet " 15559 CHCHD10 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 15559 CHCHD10 "SPINAL MUSCULAR ATROPHY, JOKELA TYPE" MONDO_0014025 "Disgenet " 15559 CHCHD10 "Lower motor neuron syndrome with late-adult onset" MONDO_0014025 "Disgenet " 15559 CHCHD10 "FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2" MONDO_0014395 "Disgenet " 15559 CHCHD10 IMMD MONDO_0014532 "Disgenet " 15559 CHCHD10 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 15563 IL37 "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 1557 CBX7 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 1557 CBX7 "Multiple Myeloma" MONDO_0009693 "Disgenet " 1557 CBX7 "Cancer, Breast" MONDO_0007254 "Disgenet " 15573 SETBP1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 15573 SETBP1 "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 15573 SETBP1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 15573 SETBP1 MRD29 MONDO_0014482 "Disgenet " 15573 SETBP1 "Myeloid Leukemias" MONDO_0004643 "Disgenet " 15573 SETBP1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 15573 SETBP1 "Subacute myeloid leukemia" MONDO_0004653 "Disgenet " 15573 SETBP1 "Schinzel-Giedon syndrome" MONDO_0010010 "Disgenet " 15573 SETBP1 "Schinzel-Giedion syndrome" MONDO:0010010 "ClinGen " 15573 SETBP1 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 15573 SETBP1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 15573 SETBP1 "Dysmyelopoietic Syndrome" MONDO_0018881 "Disgenet " 15573 SETBP1 JMML MONDO_0011908 "Disgenet " 15574 RB1CC1 Schizophrenias MONDO_0005090 "Disgenet " 15574 RB1CC1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 15574 RB1CC1 "Cancer, Breast" MONDO_0007254 "Disgenet " 15578 REPS1 "Neurodegeneration with brain iron accumulation (NBIA)" MONDO_0018307 "Disgenet " 15579 TRIM8 "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 15579 TRIM8 "focal segmental glomerulosclerosis and neurodevelopmental syndrome" MONDO:0100111 "ClinGen " 15592 SS18L1 "amyotrophic lateral sclerosis" MONDO:0004976 "ClinGen " 15592 SS18L1 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 15597 HPS3 "Hermanski Pudlak Syndrome" MONDO_0019312 "Disgenet " 15597 HPS3 "HERMANSKY-PUDLAK SYNDROME 3" MONDO_0013555 "Disgenet " 15597 HPS3 "Hermansky-Pudlak syndrome 3" MONDO:0013555 "ClinGen " 15625 NBAS "SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY" MONDO_0013889 "Disgenet " 15625 NBAS "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 15625 NBAS "INFANTILE LIVER FAILURE SYNDROME 2" MONDO_0014659 "Disgenet " 15629 B3GNT2 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 15629 B3GNT2 Schizophrenias MONDO_0005090 "Disgenet " 15629 B3GNT2 "GRAVES DISEASE" MONDO_0005364 "Disgenet " 15632 TLR8 "Hepatitis C" MONDO_0005231 "Disgenet " 15632 TLR8 IMD98 MONDO_0024777 "Disgenet " 15633 TLR9 "Cardiovascular Disease" MONDO_0004995 "Disgenet " 15633 TLR9 "Triple-Negative Breast Cancers" MONDO_0005494 "Disgenet " 15633 TLR9 CRC MONDO_0005335 "Disgenet " 15633 TLR9 "Bergers Disease" MONDO_0005342 "Disgenet " 15633 TLR9 "Hepatitis B" MONDO_0005344 "Disgenet " 15633 TLR9 Asthma MONDO_0004979 "Disgenet " 15633 TLR9 "Glomerulonephritides, Lupus" MONDO_0005556 "Disgenet " 15633 TLR9 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 15633 TLR9 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 15633 TLR9 "Hepatitis C" MONDO_0005231 "Disgenet " 15633 TLR9 "Tuberculosis, Pulmonary" MONDO_0957462 "Disgenet " 15633 TLR9 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 15633 TLR9 "Cystic Fibrosis" MONDO_0009061 "Disgenet " 15634 TLR10 Asthma MONDO_0004979 "Disgenet " 15646 KLHL7 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 15646 KLHL7 "Crisponi syndrome" MONDO_0010091 "Disgenet " 15646 KLHL7 RP42 MONDO_0013052 "Disgenet " 15646 KLHL7 "CISS3, FORMERLY" MONDO_0014890 "Disgenet " 15646 KLHL7 "Bohring syndrome" MONDO_0011510 "Disgenet " 15646 KLHL7 CISS1 MONDO_0010091 "Disgenet " 15654 CYP2S1 Psoriases MONDO_0005083 "Disgenet " 15669 TAGAP "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 15672 ALG9 "Polycystic Kidney, Autosomal Dominant" MONDO_0004691 "Disgenet " 15672 ALG9 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 15672 ALG9 "ALG9-associated autosomal dominant polycystic kidney disease" MONDO:0700000 "ClinGen " 15672 ALG9 CDGIl MONDO_0012117 "Disgenet " 15673 PHIP "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 15673 PHIP "PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome" MONDO:0035133 "ClinGen " 15673 PHIP "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 15673 PHIP DIDOD MONDO_0035133 "Disgenet " 15685 B4GAT1 "Walker-Warburg congenital muscular dystrophy" MONDO_0000171 "Disgenet " 15685 B4GAT1 "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13" MONDO:0014120 "ClinGen " 15685 B4GAT1 "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13" MONDO_0014120 "Disgenet " 1569 CCK Alcoholism MONDO_0002046 "Disgenet " 1569 CCK Anorexia "Disgenet " 1569 CCK Catalepsies "Disgenet " 1569 CCK Pancreatitis MONDO_0004982 "Disgenet " 1569 CCK "Gastric ulcer" MONDO_0001126 "Disgenet " 1569 CCK Cholecystolithiasis MONDO_0006698 "Disgenet " 1569 CCK Cholelithiases MONDO_0012672 "Disgenet " 1569 CCK Schizophrenias MONDO_0005090 "Disgenet " 1570 CCKAR "Gallbladder Neoplasm" MONDO_0005411 "Disgenet " 1570 CCKAR Obesity MONDO_0019182 "Disgenet " 1570 CCKAR Schizophrenias MONDO_0005090 "Disgenet " 1570 CCKAR Alcoholism MONDO_0002046 "Disgenet " 15710 LDB3 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 15710 LDB3 CMD1A MONDO_0005021 "Disgenet " 15710 LDB3 "Arrhythmogenic right ventricular dysplasia" MONDO_0016587 "Disgenet " 15710 LDB3 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 15710 LDB3 "Myofibrillar myopathy" MONDO_0018943 "Disgenet " 15710 LDB3 CMD1C MONDO_0011094 "Disgenet " 15710 LDB3 "distal muscular dystrophy" MONDO_0018949 "Disgenet " 15710 LDB3 Cardiomyopathy MONDO_0004994 "Disgenet " 15710 LDB3 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 15710 LDB3 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 15710 LDB3 "arrhythmogenic right ventricular cardiomyopathy" MONDO:0016587 "ClinGen " 15714 LRPPRC "mitochondrial disease" MONDO:0044970 "ClinGen " 15714 LRPPRC "Leigh syndrome" MONDO:0009723 "ClinGen " 15714 LRPPRC "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 15714 LRPPRC LSFC MONDO_0009069 "Disgenet " 15718 APCDD1 HHS MONDO_0003037 "Disgenet " 15718 APCDD1 "Hypotrichosis simplex" MONDO_0018914 "Disgenet " 15719 OBSCN "Cancer, Breast" MONDO_0007254 "Disgenet " 15719 OBSCN "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 15719 OBSCN "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 15719 OBSCN "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 15719 OBSCN "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 1573 KRIT1 "Cavernous hemangioma" MONDO_0003155 "Disgenet " 1573 KRIT1 CCM1 MONDO_0020724 "Disgenet " 1573 KRIT1 "Familial cerebral cavernous angioma" MONDO_0031037 "Disgenet " 1573 KRIT1 CAM MONDO_0000820 "Disgenet " 15734 KIRREL1 "NEPHROTIC SYNDROME, TYPE 23" MONDO_0030962 "Disgenet " 15736 HID1 "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM" MONDO_0031028 "Disgenet " 15754 MYL9 "Berdon syndrome" MONDO_0100354 "Disgenet " 15756 SDCBP2 CRC MONDO_0005335 "Disgenet " 15761 OSBPL2 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 15766 ADNP "ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder" MONDO:0014379 "ClinGen " 15766 ADNP "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 15766 ADNP "Child Development Disorder" MONDO_0005287 "Disgenet " 15766 ADNP "HELSMOORTEL-VAN DER AA SYNDROME" MONDO_0014379 "Disgenet " 15766 ADNP Schizophrenias MONDO_0005090 "Disgenet " 15766 ADNP "Global developmental delay" "Disgenet " 15766 ADNP "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 15766 ADNP "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 15766 ADNP "Childhood autism" MONDO_0005260 "Disgenet " 15767 FERMT2 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 15767 FERMT2 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 15767 FERMT2 "Angle Closure Glaucoma" MONDO_0001744 "Disgenet " 1578 CCNA2 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 15784 ULK4 Schizophrenias MONDO_0005090 "Disgenet " 15784 ULK4 "Multiple Myeloma" MONDO_0009693 "Disgenet " 1579 CCNB1 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 1579 CCNB1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1579 CCNB1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 1579 CCNB1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 1579 CCNB1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1579 CCNB1 "Cancer, Breast" MONDO_0007254 "Disgenet " 15791 PIGU "glycosylphosphatidylinositol biosynthesis defect 21" MONDO:0032824 "ClinGen " 15791 PIGU GPIBD21 MONDO_0032824 "Disgenet " 1580 CCNB2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 15802 GATA5 "Ventricular septal defect" MONDO_0002070 "Disgenet " 15802 GATA5 "Fallot Tetralogy" MONDO_0008542 "Disgenet " 15802 GATA5 "High blood pressure" MONDO_0005044 "Disgenet " 15802 GATA5 "Bicuspid aortic valve" MONDO_0007194 "Disgenet " 15802 GATA5 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 15802 GATA5 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 15807 ZNF335 "MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE" MONDO_0014043 "Disgenet " 15818 RBM38 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 15819 ANKRD1 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 15819 ANKRD1 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 15819 ANKRD1 "Total anomalous pulmonary venous connection" MONDO_0007130 "Disgenet " 15819 ANKRD1 "congenital heart disorder" MONDO_0005453 "Disgenet " 15819 ANKRD1 Cardiomyopathy MONDO_0004994 "Disgenet " 15819 ANKRD1 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 15819 ANKRD1 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 15819 ANKRD1 "congenital heart disease" MONDO:0005453 "ClinGen " 1582 CCND1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 1582 CCND1 "Cancer, Squamous Cell" MONDO_0002532 "Disgenet " 1582 CCND1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 1582 CCND1 "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 1582 CCND1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 1582 CCND1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 1582 CCND1 Adenocarcinoma MONDO_0004970 "Disgenet " 1582 CCND1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 1582 CCND1 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 1582 CCND1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 1582 CCND1 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 1582 CCND1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 1582 CCND1 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 1582 CCND1 "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 1582 CCND1 Carcinoma MONDO_0004993 "Disgenet " 1582 CCND1 Gliomas MONDO_0021042 "Disgenet " 1582 CCND1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 1582 CCND1 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 1582 CCND1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1582 CCND1 Schizophrenias MONDO_0005090 "Disgenet " 1582 CCND1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 1582 CCND1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 1582 CCND1 "Gland Neoplasm, Salivary" MONDO_0004669 "Disgenet " 1582 CCND1 "Intestinal Polyp" MONDO_0005288 "Disgenet " 1582 CCND1 "Transitional cell neoplasm (morphologic abnormality)" MONDO_0037254 "Disgenet " 1582 CCND1 "Bowen's Disease" MONDO_0020761 "Disgenet " 1582 CCND1 "Carcinoma, Lobular" MONDO_0005051 "Disgenet " 1582 CCND1 "Kidney Neoplasm" MONDO_0002367 "Disgenet " 1582 CCND1 Angiosarcomas MONDO_0016982 "Disgenet " 1582 CCND1 Epithelioma MONDO_0004993 "Disgenet " 1582 CCND1 "Malignant neoplasm of large intestine" MONDO_0005575 "Disgenet " 1582 CCND1 "Adenoid cystic carcinoma" MONDO_0003175 "Disgenet " 1582 CCND1 "OVARIAN CANCER, EPITHELIAL" MONDO_0018364 "Disgenet " 1582 CCND1 "Hippel Lindau Disease" MONDO_0008667 "Disgenet " 1582 CCND1 "Brain Neoplasms" MONDO_0021211 "Disgenet " 1582 CCND1 "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 1582 CCND1 Papilloma MONDO_0002363 "Disgenet " 1582 CCND1 "Neoplasm, Thyroid" MONDO_0015074 "Disgenet " 1582 CCND1 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 1582 CCND1 "Glioma, malignant" MONDO_0100342 "Disgenet " 1582 CCND1 Leukemias MONDO_0005059 "Disgenet " 1582 CCND1 Hyperparathyroidism MONDO_0001741 "Disgenet " 1582 CCND1 "Pancreatic Infiltrating Duct Carcinoma, NOS" MONDO_0005184 "Disgenet " 1582 CCND1 "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 1582 CCND1 "Liver Neoplasm" MONDO_0002691 "Disgenet " 1582 CCND1 "Centrocytic Small-Cell Lymphoma" MONDO_0018876 "Disgenet " 1582 CCND1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 1582 CCND1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 1582 CCND1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1582 CCND1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 1582 CCND1 "Multiple Myeloma" MONDO_0009693 "Disgenet " 1582 CCND1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 1582 CCND1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 15822 OXR1 "Cerebellar atrophy" "Disgenet " 1583 CCND2 Macrocephaly MONDO_0016608 "Disgenet " 1583 CCND2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1583 CCND2 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 1583 CCND2 "Hepatitis B" MONDO_0005344 "Disgenet " 1583 CCND2 "Carcinoma, Intraductal, Noninfiltrating" MONDO_0005023 "Disgenet " 1583 CCND2 Hydrocephaly MONDO_0001150 "Disgenet " 1583 CCND2 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 1583 CCND2 "carcinoma of stomach (diagnosis)" MONDO_0004950 "Disgenet " 1583 CCND2 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 1583 CCND2 Schizophrenias MONDO_0005090 "Disgenet " 1583 CCND2 "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3" MONDO:0014408 "ClinGen " 1583 CCND2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1583 CCND2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 1583 CCND2 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 1583 CCND2 "Cancer, Breast" MONDO_0007254 "Disgenet " 1583 CCND2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 1583 CCND2 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 15842 ERBIN "autosomal dominant combined immunodeficiency due to ERBIN deficiency" MONDO:0958120 "ClinGen " 15844 HPS4 "Hermansky-Pudlak syndrome 4" MONDO:0013556 "ClinGen " 15844 HPS4 "Albinism, Oculocutaneous" MONDO_0018910 "Disgenet " 15844 HPS4 "Hermanski Pudlak Syndrome" MONDO_0019312 "Disgenet " 15844 HPS4 HPS4 MONDO_0013556 "Disgenet " 15844 HPS4 Schizophrenias MONDO_0005090 "Disgenet " 1585 CCND3 "Leukemia, T Cell" MONDO_0004963 "Disgenet " 15853 ARFGEF2 "Global developmental delay" "Disgenet " 15853 ARFGEF2 PVNH2 MONDO_0011966 "Disgenet " 15853 ARFGEF2 "periventricular heterotopia with microcephaly, autosomal recessive" MONDO:0011966 "ClinGen " 15853 ARFGEF2 "Periventricular neuronal heterotopia" MONDO_0020341 "Disgenet " 15859 TASP1 "SULEIMAN-EL-HATTAB SYNDROME" MONDO_0033532 "Disgenet " 15862 SMOX "Cancer, Breast" MONDO_0007254 "Disgenet " 15862 SMOX "Cerebrovascular accident" MONDO_0005098 "Disgenet " 15864 RBCK1 Amylopectinoses MONDO_0009292 "Disgenet " 15864 RBCK1 "Diseases, Glycogen Storage" MONDO_0010362 "Disgenet " 15864 RBCK1 "POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY" MONDO_0014389 "Disgenet " 15865 KIZ "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 15865 KIZ "KIZ-related retinopathy" MONDO:0700232 "ClinGen " 15865 KIZ "Retinal dystrophy" MONDO_0019118 "Disgenet " 15868 ABHD12 "PHARC syndrome" MONDO:0012984 "ClinGen " 15868 ABHD12 "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder)" MONDO_0012984 "Disgenet " 15868 ABHD12 PHARC MONDO_0012984 "Disgenet " 15869 KIF16B "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 15876 TMEM230 "Parkinson Disease" MONDO_0014796 "Disgenet " 15878 CASS4 "Alzheimer Disease" MONDO_0012630 "Disgenet " 15879 CTNNBL1 "common variable immunodeficiency" MONDO:0015517 "ClinGen " 15888 RTEL1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 15888 RTEL1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 15888 RTEL1 DKCB5 MONDO_0014076 "Disgenet " 15888 RTEL1 "Dyskeratosis Congenita" MONDO_0015780 "Disgenet " 15888 RTEL1 Gliomas MONDO_0021042 "Disgenet " 15888 RTEL1 "Fibrosing alveolitis" MONDO_0800029 "Disgenet " 15888 RTEL1 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 15888 RTEL1 "HOYERAAL-HREIDARSSON SYNDROME" MONDO_0018045 "Disgenet " 15888 RTEL1 "Syndrome, Zinsser-Cole-Engman" MONDO_0010584 "Disgenet " 15888 RTEL1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 15888 RTEL1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 15888 RTEL1 "Glioma, malignant" MONDO_0100342 "Disgenet " 1589 CCNE1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 1589 CCNE1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 1589 CCNE1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 1589 CCNE1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1589 CCNE1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 15894 PANK2 "Atypical pantothenate kinase associated neurodegeneration" MONDO_0016305 "Disgenet " 15894 PANK2 "HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION" MONDO_0011798 "Disgenet " 15894 PANK2 "PKAN, classic form" MONDO_0016304 "Disgenet " 15894 PANK2 "Hallervorden Spatz Syndrome" MONDO_0024457 "Disgenet " 15894 PANK2 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 15894 PANK2 "Degenerative disease of nervous system, unspecified" MONDO_0005559 "Disgenet " 15894 PANK2 "Neurodegeneration with brain iron accumulation (NBIA)" MONDO_0018307 "Disgenet " 15899 NDUFAF5 "Leigh syndrome" MONDO:0009723 "ClinGen " 15899 NDUFAF5 "mitochondrial disease" MONDO:0044970 "ClinGen " 15899 NDUFAF5 MC1DN16 MONDO_0032621 "Disgenet " 15899 NDUFAF5 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 15899 NDUFAF5 "MITOCHONDRIAL COMPLEX I DEFICIENCY" MONDO_0100133 "Disgenet " 15899 NDUFAF5 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 1590 CCNE2 "Prostatic Cancers, Androgen-Independent" MONDO_0850353 "Disgenet " 1590 CCNE2 "Neoplasm, Castration-Resistant Prostatic" MONDO_0850353 "Disgenet " 15901 IFT52 "Short Rib Polydactyly Syndrome" MONDO_0015461 "Disgenet " 15901 IFT52 "Cranioectodermal dysplasia" MONDO_0009032 "Disgenet " 15901 IFT52 "short-rib thoracic dysplasia 16 with or without polydactyly" MONDO:0014915 "ClinGen " 15906 MYH7B "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 15908 NAA20 MRT73 MONDO_0030533 "Disgenet " 1591 CCNF "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 1591 CCNF "frontotemporal dementia and/or amyotrophic lateral sclerosis 5" MONDO:0030875 "ClinGen " 1591 CCNF "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1591 CCNF "Frontotemporal dementia" MONDO_0017276 "Disgenet " 15910 NFS1 "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52" MONDO_0030311 "Disgenet " 15911 NOP56 "Ataxia, Spinocerebellar" MONDO_0000437 "Disgenet " 15911 NOP56 "SPINOCEREBELLAR ATAXIA 36" MONDO_0013594 "Disgenet " 15911 NOP56 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 15917 PLCB1 "developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 15917 PLCB1 Schizophrenias MONDO_0005090 "Disgenet " 15917 PLCB1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 15917 PLCB1 "Migrating Partial Seizures in Infancy" MONDO_0017385 "Disgenet " 15917 PLCB1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 15917 PLCB1 "Cancer, Breast" MONDO_0007254 "Disgenet " 15917 PLCB1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 1592 CCNG1 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 1592 CCNG1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 1592 CCNG1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 1592 CCNG1 "OVARIAN CANCER, EPITHELIAL" MONDO_0018364 "Disgenet " 1592 CCNG1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 15925 SAMHD1 "Familial Chilblain lupus" MONDO_0018827 "Disgenet " 15925 SAMHD1 "Aicardi-Goutieres syndrome" MONDO_0018866 "Disgenet " 15925 SAMHD1 "SAMHD1-related type 1 interferonopathy" MONDO:0700260 "ClinGen " 15925 SAMHD1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 15925 SAMHD1 AGS5 MONDO_0013059 "Disgenet " 15936 NCOA6 "Cancer, Breast" MONDO_0007254 "Disgenet " 15937 UBE2C "Breast Neoplasms" MONDO_0021100 "Disgenet " 15937 UBE2C "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1594 CCNH "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 1594 CCNH "Breast Neoplasms" MONDO_0021100 "Disgenet " 1594 CCNH Carcinoma MONDO_0004993 "Disgenet " 15954 TOE1 PCH7 MONDO_0013993 "Disgenet " 15954 TOE1 "Congenital Pontocerebellar Hypoplasia" MONDO_0020135 "Disgenet " 15971 TSG101 "familial cancer of breast" MONDO_0016419 "Disgenet " 15971 TSG101 "CARCINOMA OF CERVIX" MONDO_0005131 "Disgenet " 15971 TSG101 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 15971 TSG101 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 15971 TSG101 "Cancer, Breast" MONDO_0007254 "Disgenet " 15971 TSG101 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 15974 TRIM2 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R" MONDO_0014208 "Disgenet " 15975 SASH3 "combined immunodeficiency, X-linked" MONDO:0010730 "ClinGen " 15975 SASH3 "IMMUNODEFICIENCY 102" MONDO_0024781 "Disgenet " 15979 TP63 "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3" MONDO:0011428 "ClinGen " 15979 TP63 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 15979 TP63 "Lung Neoplasm" MONDO_0002732 "Disgenet " 15979 TP63 "Cleft Palate" MONDO_0016064 "Disgenet " 15979 TP63 "Cleft palate with cleft lip" MONDO_0016044 "Disgenet " 15979 TP63 "CARCINOMA OF LUNG" MONDO_0005138 "Disgenet " 15979 TP63 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 15979 TP63 BEEC MONDO_0017919 "Disgenet " 15979 TP63 "ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE" MONDO_0007124 "Disgenet " 15979 TP63 "Limb Deformities, Congenital" MONDO_0017427 "Disgenet " 15979 TP63 "Breast Neoplasms" MONDO_0021100 "Disgenet " 15979 TP63 "OROFACIAL CLEFT 8" MONDO_0029145 "Disgenet " 15979 TP63 "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 15979 TP63 "ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3" MONDO_0011428 "Disgenet " 15979 TP63 "SPLIT-HAND/FOOT MALFORMATION 4" MONDO_0011535 "Disgenet " 15979 TP63 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 15979 TP63 "Cleft Lip" MONDO_0004747 "Disgenet " 15979 TP63 "Bladder Exstrophies" MONDO_0010805 "Disgenet " 15979 TP63 Carcinoma MONDO_0004993 "Disgenet " 15979 TP63 "Menopause, Premature" MONDO_0001119 "Disgenet " 15979 TP63 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 15979 TP63 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 15979 TP63 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 15979 TP63 "Primary ovarian failure" MONDO_0005387 "Disgenet " 15979 TP63 "Cancer, Squamous Cell" MONDO_0002532 "Disgenet " 15979 TP63 "Foot Deformities, Congenital" "Disgenet " 15979 TP63 "Cancer, Cervical" MONDO_0002974 "Disgenet " 15979 TP63 Adenocarcinoma MONDO_0004970 "Disgenet " 15979 TP63 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 15979 TP63 Ectrodactyly MONDO_0016576 "Disgenet " 15979 TP63 "RAPP-HODGKIN SYNDROME" MONDO_0007508 "Disgenet " 15979 TP63 LMS MONDO_0011334 "Disgenet " 15979 TP63 "Ectodermal Dysplasias" MONDO_0019287 "Disgenet " 15979 TP63 "ADULT SYNDROME" MONDO_0007072 "Disgenet " 15979 TP63 "RUDIGER SYNDROME" MONDO_0007520 "Disgenet " 15991 LMLN "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 15992 ZNF341 "hyper-IgE recurrent infection syndrome 3, autosomal recessive" MONDO:0032654 "ClinGen " 15992 ZNF341 HIES3 MONDO_0032654 "Disgenet " 15996 SERPINA10 Thrombophilia MONDO_0002305 "Disgenet " 15999 SELENON "SELENON-related myopathy" MONDO:0100100 "ClinGen " 15999 SELENON CFTD MONDO_0800341 "Disgenet " 15999 SELENON "Desmin related myopathy with Mallory body-like inclusions (disorder)" MONDO_0019398 "Disgenet " 15999 SELENON "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 15999 SELENON RSMD1 MONDO_0011271 "Disgenet " 16 SERPINA3 "Cystic Fibrosis" MONDO_0009061 "Disgenet " 16 SERPINA3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 16 SERPINA3 COPD MONDO_0005002 "Disgenet " 16001 SUGCT "glutaric acidemia type 3" MONDO:0009283 "ClinGen " 16001 SUGCT "GLUTARIC ACIDURIA III" MONDO_0009283 "Disgenet " 16002 MPLKIP "Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt" MONDO_0021013 "Disgenet " 16002 MPLKIP "Trichothiodystrophy Syndrome" MONDO_0002470 "Disgenet " 16007 TRIM63 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 16007 TRIM63 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 16007 TRIM63 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 1602 CCR1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 1602 CCR1 "Behcet Syndrome" MONDO_0007191 "Disgenet " 1602 CCR1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1602 CCR1 Pneumonia MONDO_0005249 "Disgenet " 1602 CCR1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 16028 IL33 Nephropathy MONDO_0005240 "Disgenet " 16028 IL33 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 16028 IL33 Asthma MONDO_0004979 "Disgenet " 16028 IL33 "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 16028 IL33 Pneumonia MONDO_0005249 "Disgenet " 16028 IL33 "Atopic Eczema" MONDO_0011292 "Disgenet " 1603 CCR2 "HIV infection" MONDO_0005109 "Disgenet " 1603 CCR2 Asthma MONDO_0004979 "Disgenet " 1603 CCR2 "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 1603 CCR2 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 1603 CCR2 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 1603 CCR2 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 1603 CCR2 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 1603 CCR2 "Heart failure" MONDO_0005252 "Disgenet " 1603 CCR2 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 1603 CCR2 "Congestive heart failure" MONDO_0005252 "Disgenet " 1603 CCR2 "Disease, Schaumann" MONDO_0008399 "Disgenet " 1603 CCR2 "Status Epilepticus" MONDO_0002125 "Disgenet " 1603 CCR2 "Coronary Disease" MONDO_0005010 "Disgenet " 1603 CCR2 "malignant squamous cell neoplasm of oral cavity (diagnosis)" MONDO_0004958 "Disgenet " 1603 CCR2 "Prediabetic State" MONDO_0006920 "Disgenet " 1603 CCR2 Pneumonia MONDO_0005249 "Disgenet " 1603 CCR2 "Dermatitis, Allergic Contact" MONDO_0006525 "Disgenet " 1603 CCR2 "Diseases, Liver" MONDO_0005154 "Disgenet " 16031 RNF31 "immunodeficiency 115 with autoinflammation" MONDO:0957981 "ClinGen " 16031 RNF31 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 16038 ORMDL3 Asthma MONDO_0004979 "Disgenet " 16038 ORMDL3 "Ulcerative colitis" MONDO_0005101 "Disgenet " 16039 ANGPTL4 Obesity MONDO_0019182 "Disgenet " 16039 ANGPTL4 "Coronary Disease" MONDO_0005010 "Disgenet " 16039 ANGPTL4 "Breast Neoplasms" MONDO_0021100 "Disgenet " 16039 ANGPTL4 Hypertriglyceridemia MONDO_0005347 "Disgenet " 16039 ANGPTL4 "Fatty Liver" MONDO_0004790 "Disgenet " 16039 ANGPTL4 Dyslipidaemia "Disgenet " 16039 ANGPTL4 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 16046 UNC50 Arthrogryposes MONDO_0015168 "Disgenet " 16051 PARD3 "Defect, Neural Tube" MONDO_0018075 "Disgenet " 16059 PAK4 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 1606 CCR5 "Atopic Eczema" MONDO_0011292 "Disgenet " 1606 CCR5 "Hepatitis B" MONDO_0005344 "Disgenet " 1606 CCR5 "Behcet Syndrome" MONDO_0007191 "Disgenet " 1606 CCR5 "Disease, Schaumann" MONDO_0008399 "Disgenet " 1606 CCR5 "Granulomatosis, Wegener" MONDO_0012105 "Disgenet " 1606 CCR5 Schizophrenias MONDO_0005090 "Disgenet " 1606 CCR5 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 1606 CCR5 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 1606 CCR5 "HIV infection" MONDO_0005109 "Disgenet " 1606 CCR5 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 1606 CCR5 "Cancer, Breast" MONDO_0007254 "Disgenet " 1606 CCR5 "Hepatitis C" MONDO_0005231 "Disgenet " 1606 CCR5 Asthma MONDO_0004979 "Disgenet " 1606 CCR5 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 1606 CCR5 "West Nile Fever" MONDO_0002282 "Disgenet " 1606 CCR5 "High blood pressure" MONDO_0005044 "Disgenet " 16061 PAK6 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 16062 CRTC1 "adenocarcinoma of esophagus (diagnosis)" MONDO_0005028 "Disgenet " 16063 MLLT10 "Acute monocytic leukemia" MONDO_0007896 "Disgenet " 16063 MLLT10 Meningiomas MONDO_0016642 "Disgenet " 16063 MLLT10 "Precursor T-cell lymphoblastic leukaemia" MONDO_0020512 "Disgenet " 16063 MLLT10 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 16067 MYOCD "MEGABLADDER, CONGENITAL" MONDO_0032879 "Disgenet " 16068 PCNT MOPD2 MONDO_0008872 "Disgenet " 16068 PCNT "microcephalic osteodysplastic primordial dwarfism type II" MONDO:0008872 "ClinGen " 16068 PCNT Schizophrenias MONDO_0005090 "Disgenet " 16068 PCNT "Depressions, Unipolar" MONDO_0002050 "Disgenet " 16068 PCNT "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 16068 PCNT "Bipolar Disorders" MONDO_0004985 "Disgenet " 16075 RAB33B "SMITH-MCCORT DYSPLASIA" MONDO_0015799 "Disgenet " 16075 RAB33B "SMITH-MCCORT DYSPLASIA 2" MONDO_0014087 "Disgenet " 1608 CCR7 "human T cell leukemia" MONDO_0019471 "Disgenet " 16084 LIMS2 LGMD2W MONDO_0014788 "Disgenet " 16084 LIMS2 "autosomal recessive limb-girdle muscular dystrophy" MONDO:0015152 "ClinGen " 16085 SFXN1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 16088 SFXN4 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 16088 SFXN4 "mitochondrial disease" MONDO:0044970 "ClinGen " 16090 PGRMC1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 16090 PGRMC1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 16122 FAM83D "Liver cell carcinoma" MONDO_0007256 "Disgenet " 16126 MACROD2 "Childhood autism" MONDO_0005260 "Disgenet " 16126 MACROD2 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 1613 CCS "disorder of copper metabolism" MONDO:0017762 "ClinGen " 1613 CCS "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 16133 TBC1D20 "Warburg Sjo Fledelius syndrome" MONDO_0016649 "Disgenet " 16133 TBC1D20 WARBM MONDO_0016649 "Disgenet " 16135 FITM2 SIDDIS MONDO_0032842 "Disgenet " 16135 FITM2 "Siddiqi syndrome" MONDO:0032842 "ClinGen " 16148 CRLS1 COXPD57 MONDO_0859337 "Disgenet " 1615 CCT2 "Leber congenital amaurosis" MONDO_0018998 "Disgenet " 16171 CHMP4B CTPP3 MONDO_0011547 "Disgenet " 16175 RSPO4 Anonychia MONDO_0019211 "Disgenet " 16187 SLC52A3 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 16187 SLC52A3 "Pontobulbar palsy and neurosensory deafness" MONDO_0008891 "Disgenet " 16187 SLC52A3 "Progressive bulbar palsy" MONDO_0008890 "Disgenet " 16187 SLC52A3 "Brown-Vialetto-van Laere syndrome 1" MONDO:0024537 "ClinGen " 16187 SLC52A3 "Progressive bulbar palsy of childhood [Fazio-Londe]" MONDO_0100428 "Disgenet " 16197 TP53RK "GALLOWAY-MOWAT SYNDROME 4" MONDO_0033008 "Disgenet " 16197 TP53RK "Microcephaly nephrosis syndrome" MONDO_0009627 "Disgenet " 16205 MGME1 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 16205 MGME1 "mitochondrial disease" MONDO:0044970 "ClinGen " 16205 MGME1 MTDPS11 MONDO_0014039 "Disgenet " 1622 CCT7 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 1622 CCT7 "Acute kidney injury" MONDO_0002492 "Disgenet " 16228 TRIB3 "Syndrome X, Reaven" MONDO_0011565 "Disgenet " 16228 TRIB3 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 16228 TRIB3 "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 16232 COX4I2 "mitochondrial disease" MONDO:0044970 "ClinGen " 16232 COX4I2 "EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS" MONDO_0012992 "Disgenet " 16235 DNAJC5 "KUFS DIS" MONDO_0008768 "Disgenet " 16235 DNAJC5 "Neuronal ceroid lipofuscinosis" MONDO_0008767 "Disgenet " 16235 DNAJC5 "CEROID LIPOFUSCINOSIS, NEURONAL, PARRY TYPE" MONDO_0008083 "Disgenet " 16235 DNAJC5 "adult neuronal ceroid lipofuscinosis" MONDO:0019260 "ClinGen " 16243 MYLK2 CMH1 MONDO_0024573 "Disgenet " 16243 MYLK2 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 16243 MYLK2 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 16259 MAML2 "congenital heart disease" MONDO:0005453 "ClinGen " 16262 YAP1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 16262 YAP1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 16262 YAP1 Neuroblastoma MONDO_0005072 "Disgenet " 16262 YAP1 "Triple-Negative Breast Cancers" MONDO_0005494 "Disgenet " 16262 YAP1 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 16262 YAP1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 16262 YAP1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 16262 YAP1 "Hemangioendothelioma, Epithelioid" MONDO_0015523 "Disgenet " 16262 YAP1 "Embryonal rhabdomyosarcoma" MONDO_0009993 "Disgenet " 16262 YAP1 Coloboma MONDO_0007350 "Disgenet " 16262 YAP1 "Multiple Myeloma" MONDO_0009693 "Disgenet " 16262 YAP1 Hemangioma MONDO_0006500 "Disgenet " 16262 YAP1 "Brain Neoplasms" MONDO_0021211 "Disgenet " 16264 TRAP1 "VACTERL syndrome" MONDO_0008642 "Disgenet " 16265 WNT5B "Fibroid Tumor" MONDO_0001572 "Disgenet " 16266 SLC19A3 "Leigh syndrome" MONDO:0009723 "ClinGen " 16266 SLC19A3 "Basal ganglia disease, biotin-responsive" MONDO_0011841 "Disgenet " 16266 SLC19A3 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 16268 PNPLA6 "Diseases, Nervous System" MONDO_0005071 "Disgenet " 16268 PNPLA6 Polyneuropathy MONDO_0001824 "Disgenet " 16268 PNPLA6 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 16268 PNPLA6 "Spastic ataxia" MONDO_0017845 "Disgenet " 16268 PNPLA6 "Motor Neuron Disease" MONDO_0008780 "Disgenet " 16268 PNPLA6 "PNPLA6-related spastic paraplegia with or without ataxia" MONDO:0100149 "ClinGen " 16268 PNPLA6 "retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome" MONDO:0100155 "ClinGen " 16268 PNPLA6 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 16268 PNPLA6 "SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE" MONDO_0012787 "Disgenet " 16268 PNPLA6 "Paraplegias, Spastic" MONDO_0003757 "Disgenet " 16268 PNPLA6 "Congenital trichomegaly, pigmentary retinal degeneration, and short stature" MONDO_0010152 "Disgenet " 16268 PNPLA6 "Boucher-Neuhauser Syndrome" MONDO_0008980 "Disgenet " 16268 PNPLA6 "Laurence Moon Biedl Syndrome" MONDO_0009514 "Disgenet " 16268 PNPLA6 "Gordon Holmes Syndrome" MONDO_0008935 "Disgenet " 16276 TRIM5 "HIV infection" MONDO_0005109 "Disgenet " 1628 CD14 "Artery Disease, Carotid" MONDO_0005269 "Disgenet " 1628 CD14 "Tuberculosis, Pulmonary" MONDO_0957462 "Disgenet " 1628 CD14 "Celiac Disease" MONDO_0005130 "Disgenet " 1628 CD14 "Disease, Schaumann" MONDO_0008399 "Disgenet " 1628 CD14 "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 1628 CD14 Gout MONDO_0005393 "Disgenet " 1628 CD14 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 1628 CD14 "High blood pressure" MONDO_0005044 "Disgenet " 1628 CD14 Eczema MONDO_0004980 "Disgenet " 1628 CD14 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 1628 CD14 "Cystic Fibrosis" MONDO_0009061 "Disgenet " 1628 CD14 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 1628 CD14 "Bergers Disease" MONDO_0005342 "Disgenet " 1628 CD14 Asthma MONDO_0004979 "Disgenet " 16280 TRIM36 Anencephaly MONDO_0000819 "Disgenet " 16286 ELMO1 "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 16287 NFU1 "Multiple Mitochondrial Dysfunctions Syndrome" MONDO_0017338 "Disgenet " 16287 NFU1 MMDS1 MONDO_0011582 "Disgenet " 16287 NFU1 "mitochondrial disease" MONDO:0044970 "ClinGen " 16287 NFU1 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 16290 TRIM33 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 16297 UPB1 "BETA-UREIDOPROPIONASE DEFICIENCY" MONDO_0013164 "Disgenet " 163 ACTN1 Macrothrombocytopenia "Disgenet " 163 ACTN1 "BLEEDING DISORDER, PLATELET-TYPE, 15" MONDO_0014078 "Disgenet " 163 ACTN1 "Autosomal dominant macrothrombocytopenia (disorder)" MONDO_0015372 "Disgenet " 163 ACTN1 Thrombocytopenia MONDO_0002049 "Disgenet " 163 ACTN1 "platelet-type bleeding disorder 15" MONDO:0014078 "ClinGen " 1631 CD163 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 1631 CD163 Schizophrenias MONDO_0005090 "Disgenet " 1631 CD163 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1631 CD163 Obesity MONDO_0019182 "Disgenet " 1632 CD164 "autosomal dominant nonsyndromic hearing loss" MONDO:0019587 "ClinGen " 1633 CD19 "immunodeficiency, common variable, 3" MONDO:0013283 "ClinGen " 1633 CD19 "Common Variable Immunodeficiency" MONDO_0015517 "Disgenet " 1633 CD19 "IMMUNODEFICIENCY, COMMON VARIABLE, 3" MONDO_0013283 "Disgenet " 1633 CD19 Hypogammaglobulinemias MONDO_0015977 "Disgenet " 16352 MRM2 "MITOCHONDRIAL DNA DEPLETION SYNDROME 17" MONDO_0032815 "Disgenet " 16353 MAGED2 BARTS5 MONDO_0010503 "Disgenet " 16353 MAGED2 "Cancer, Breast" MONDO_0007254 "Disgenet " 16353 MAGED2 "Transient antenatal Bartter syndrome" MONDO_0010503 "Disgenet " 16354 ADHFE1 "Cancer, Breast" MONDO_0007254 "Disgenet " 16361 WHRN "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 16361 WHRN "Usher syndrome type 2D" MONDO:0012662 "ClinGen " 16361 WHRN "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 16361 WHRN Hypoacusis MONDO_0005365 "Disgenet " 16361 WHRN USH2D MONDO_0016485 "Disgenet " 16361 WHRN "DEAFNESS, AUTOSOMAL RECESSIVE" MONDO_0019588 "Disgenet " 16361 WHRN "Usher syndrome" MONDO_0019501 "Disgenet " 16361 WHRN "Usher Syndrome Type 2" MONDO_0016484 "Disgenet " 16369 PARK7 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 16369 PARK7 Parkinsonism MONDO_0021095 "Disgenet " 16369 PARK7 PARK7 MONDO_0011658 "Disgenet " 16369 PARK7 "Parkinson Disease" MONDO_0014796 "Disgenet " 16369 PARK7 "Cerebral Infarction" MONDO_0002679 "Disgenet " 16369 PARK7 "Parkinson disease" MONDO:0005180 "ClinGen " 16369 PARK7 "Early onset Parkinson's disease" MONDO_0017279 "Disgenet " 16380 TRIM32 LGMD2H MONDO_0009683 "Disgenet " 16380 TRIM32 "limb girdle muscular dystrophy" MONDO_0016971 "Disgenet " 16380 TRIM32 "autosomal recessive limb-girdle muscular dystrophy" MONDO:0015152 "ClinGen " 16380 TRIM32 "Bardet-Biedl syndrome 11" MONDO:0014439 "ClinGen " 16380 TRIM32 "Limb-girdle muscular dystrophy autosomal recessive" MONDO_0015152 "Disgenet " 16380 TRIM32 "BARDET-BIEDL SYNDROME 11" MONDO_0014439 "Disgenet " 16380 TRIM32 Myopathy MONDO_0003939 "Disgenet " 16380 TRIM32 "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 16380 TRIM32 "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 16384 TRIM28 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 16384 TRIM28 Nephroblastoma MONDO_0019004 "Disgenet " 16384 TRIM28 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 16390 NOD1 Asthma MONDO_0004979 "Disgenet " 16391 CARD9 "Ankylosing spondylitis" MONDO_0005306 "Disgenet " 16391 CARD9 "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 16391 CARD9 "Ulcerative colitis" MONDO_0005101 "Disgenet " 16391 CARD9 "Bergers Disease" MONDO_0005342 "Disgenet " 16391 CARD9 CANDF2 MONDO_0008905 "Disgenet " 16393 CARD11 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 16393 CARD11 "ATOPIC DERMATITIS, ELEVATED IgE, AND EOSINOPHILIA" MONDO_0054697 "Disgenet " 16393 CARD11 IMD11 MONDO_0014081 "Disgenet " 16393 CARD11 "B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY" MONDO_0014645 "Disgenet " 16393 CARD11 "human T cell leukemia" MONDO_0019471 "Disgenet " 16393 CARD11 "Sezary's disease" MONDO_0017844 "Disgenet " 16393 CARD11 "Cutaneous T Cell Lymphoma" MONDO_0015758 "Disgenet " 16393 CARD11 Asthma MONDO_0004979 "Disgenet " 16393 CARD11 "immunodeficiency 11b with atopic dermatitis" MONDO:0054697 "ClinGen " 16393 CARD11 "severe combined immunodeficiency due to CARD11 deficiency" MONDO:0014081 "ClinGen " 16393 CARD11 "BENTA disease" MONDO:0014645 "ClinGen " 16393 CARD11 "Atopic Eczema" MONDO_0011292 "Disgenet " 164 ACTN2 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 164 ACTN2 Cardiomyopathy MONDO_0004994 "Disgenet " 164 ACTN2 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 164 ACTN2 CMD1AA MONDO_0012808 "Disgenet " 164 ACTN2 "ACTN2-related cardiac and skeletal myopathy" MONDO:0700349 "ClinGen " 164 ACTN2 MYOCOZ MONDO_0032852 "Disgenet " 164 ACTN2 CMD1A MONDO_0005021 "Disgenet " 16400 NLRP3 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 16400 NLRP3 "Acute Lung Injury" MONDO_0015796 "Disgenet " 16400 NLRP3 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 16400 NLRP3 "Pyoderma Gangrenosum" MONDO_0018824 "Disgenet " 16400 NLRP3 neurotoxicity MONDO_0005527 "Disgenet " 16400 NLRP3 "Keratitis Fugax Hereditaria" MONDO_0007849 "Disgenet " 16400 NLRP3 "MUCKLE-WELLS SYNDROME" MONDO_0016168 "Disgenet " 16400 NLRP3 FCU MONDO_0018768 "Disgenet " 16400 NLRP3 "CINCA SYNDROME" MONDO_0011776 "Disgenet " 16400 NLRP3 "DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION" MONDO_0033261 "Disgenet " 16400 NLRP3 "FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1" MONDO_0007349 "Disgenet " 16400 NLRP3 "Autoinflammatory disease" MONDO_0019751 "Disgenet " 16400 NLRP3 "Cryopyrin associated periodic syndrome (disorder)" MONDO_0016168 "Disgenet " 16400 NLRP3 Nephropathy MONDO_0005240 "Disgenet " 16406 EFHC1 "Absence Epilepsy" MONDO_0010826 "Disgenet " 16406 EFHC1 "Juvenile absence epilepsy" MONDO_0850093 "Disgenet " 16406 EFHC1 Epilepsies MONDO_0005027 "Disgenet " 16406 EFHC1 "juvenile myoclonic epilepsy" MONDO_0009696 "Disgenet " 16406 EFHC1 epilepsy MONDO:0005027 "ClinGen " 1641 CD209 "Tuberculosis, Pulmonary" MONDO_0957462 "Disgenet " 1641 CD209 "Hepatitis C" MONDO_0005231 "Disgenet " 1641 CD209 "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 1641 CD209 "HIV infection" MONDO_0005109 "Disgenet " 1641 CD209 "Dengue fever" MONDO_0005502 "Disgenet " 1641 CD209 "Dengue hemorrhagic fever" MONDO_0005358 "Disgenet " 16410 DNAJC30 "Syndrome, Williams" MONDO_0008678 "Disgenet " 16410 DNAJC30 "Leber's optic atrophy" MONDO_0010788 "Disgenet " 16412 NLRC4 Enterocolitides MONDO_0009172 "Disgenet " 16412 NLRC4 FCU MONDO_0018768 "Disgenet " 16412 NLRC4 "Autoinflammatory disease" MONDO_0019751 "Disgenet " 16412 NLRC4 "FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4" MONDO_0014498 "Disgenet " 16412 NLRC4 "Macrophage activation syndrome" MONDO_0015545 "Disgenet " 16412 NLRC4 "Autoinflammation Disease, Hereditary" MONDO_0017953 "Disgenet " 16412 NLRC4 "AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS" MONDO_0014472 "Disgenet " 16421 SOX6 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 16421 SOX6 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 16421 SOX6 Gliomas MONDO_0021042 "Disgenet " 16421 SOX6 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 16422 CARD10 "Primary open-angle glaucoma" MONDO_0100553 "Disgenet " 16429 LIAS "Leigh syndrome" MONDO:0009723 "ClinGen " 1643 CD22 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 16432 AZIN1 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 16432 AZIN1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 16438 SLC4A11 "Corneal dystrophy" MONDO_0018102 "Disgenet " 16438 SLC4A11 "Dystrophy, Fuch's Endothelial" MONDO_0005321 "Disgenet " 16438 SLC4A11 FECD4 MONDO_0013204 "Disgenet " 16438 SLC4A11 "Corneal Dystrophies, Hereditary" MONDO_0012199 "Disgenet " 16438 SLC4A11 "CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS" MONDO_0009015 "Disgenet " 16438 SLC4A11 "CORNEAL ENDOTHELIAL DYSTROPHY 2" MONDO_0009019 "Disgenet " 16446 CARD14 "Pityriasis Rubra Pilaris" MONDO_0008251 "Disgenet " 16446 CARD14 "Familial pityriasis rubra pilaris" MONDO_0008251 "Disgenet " 16446 CARD14 Psoriases MONDO_0005083 "Disgenet " 16446 CARD14 PSORS2 MONDO_0011269 "Disgenet " 1645 CD24 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 1645 CD24 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 16466 SUFU Medulloblastoma MONDO_0007959 "Disgenet " 16466 SUFU "Basal Cell Nevus Syndrome" MONDO_0958174 "Disgenet " 16466 SUFU "Nodular Medulloblastoma" MONDO_0016710 "Disgenet " 16466 SUFU CPD4 MONDO_0018772 "Disgenet " 16466 SUFU "Desmoplastic medulloblastoma" MONDO_0016711 "Disgenet " 16466 SUFU "JOUBERT SYNDROME 32" MONDO_0033309 "Disgenet " 16466 SUFU "Neuroectodermal Tumor, Primitive" MONDO_0005462 "Disgenet " 16466 SUFU Meningiomas MONDO_0016642 "Disgenet " 16466 SUFU medulloblastoma MONDO:0007959 "ClinGen " 16466 SUFU ciliopathy MONDO:0005308 "ClinGen " 16473 NME8 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 16473 NME8 "primary ciliary dyskinesia 6" MONDO:0012571 "ClinGen " 16473 NME8 "CILIARY DYSKINESIA, PRIMARY, 6" MONDO_0012571 "Disgenet " 16491 PIDD1 "intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly" MONDO:0030785 "ClinGen " 16491 PIDD1 MRT75 MONDO_0030785 "Disgenet " 16491 PIDD1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 16493 ZMIZ1 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 16493 ZMIZ1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 16493 ZMIZ1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 16493 ZMIZ1 "Cancer, Breast" MONDO_0007254 "Disgenet " 16496 ACSL6 Schizophrenias MONDO_0005090 "Disgenet " 16496 ACSL6 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 16499 RAB39B BGMR MONDO_0010709 "Disgenet " 16499 RAB39B "early-onset parkinsonism-intellectual disability syndrome" MONDO:0010709 "ClinGen " 16501 PDLIM4 Osteoporoses MONDO_0005298 "Disgenet " 16512 BSND BSND MONDO_0011242 "Disgenet " 16512 BSND "Bartter Disease" MONDO_0015231 "Disgenet " 16512 BSND "Bartter disease type 4A" MONDO:0011242 "ClinGen " 16512 BSND "Bartter syndrome type 4 (disorder)" MONDO_0019524 "Disgenet " 16512 BSND "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 1653 CD28 "HIV infection" MONDO_0005109 "Disgenet " 1653 CD28 "Cutaneous T Cell Lymphoma" MONDO_0015758 "Disgenet " 1653 CD28 "human T cell leukemia" MONDO_0019471 "Disgenet " 1653 CD28 "Lymphoma, Peripheral T-Cell" MONDO_0004964 "Disgenet " 1653 CD28 "Sezary's disease" MONDO_0017844 "Disgenet " 1653 CD28 "immunodeficiency 123 with HPV-related verrucosis" MONDO:0971177 "ClinGen " 1653 CD28 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 1653 CD28 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 1653 CD28 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 1659 CD33 "Alzheimer Disease" MONDO_0012630 "Disgenet " 1659 CD33 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 166 ACTN4 "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 166 ACTN4 Nephropathy MONDO_0005240 "Disgenet " 166 ACTN4 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 166 ACTN4 FSGS1 MONDO_0005363 "Disgenet " 166 ACTN4 Carcinoma MONDO_0004993 "Disgenet " 16608 PYCARD "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 16608 PYCARD "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 16608 PYCARD "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 16608 PYCARD "Liver cell carcinoma" MONDO_0007256 "Disgenet " 16608 PYCARD Adenocarcinoma MONDO_0004970 "Disgenet " 16608 PYCARD "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 16608 PYCARD "Lung Neoplasm" MONDO_0002732 "Disgenet " 16617 BHLHE41 "Bipolar Disorders" MONDO_0004985 "Disgenet " 16617 BHLHE41 "Lung Neoplasm" MONDO_0002732 "Disgenet " 16618 MRPS34 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 16618 MRPS34 "Leigh syndrome" MONDO:0009723 "ClinGen " 16618 MRPS34 "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32" MONDO_0054654 "Disgenet " 1662 CD34 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 16626 RAPGEF4 "Childhood autism" MONDO_0005260 "Disgenet " 16627 CHEK2 "Breast Neoplasm, Male" MONDO_0005628 "Disgenet " 16627 CHEK2 "Lung Neoplasm" MONDO_0002732 "Disgenet " 16627 CHEK2 "Li Fraumeni Syndrome" MONDO_0018875 "Disgenet " 16627 CHEK2 LFS2 "Disgenet " 16627 CHEK2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 16627 CHEK2 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 16627 CHEK2 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 16627 CHEK2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 16627 CHEK2 "Cancer, Breast" MONDO_0007254 "Disgenet " 16627 CHEK2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 16627 CHEK2 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 16627 CHEK2 "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 16627 CHEK2 "ovarian epithelial cancer" MONDO_0005140 "Disgenet " 16627 CHEK2 "Triple-Negative Breast Cancers" MONDO_0005494 "Disgenet " 16627 CHEK2 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 16627 CHEK2 "Osteosarcoma of Bone" MONDO_0002629 "Disgenet " 16627 CHEK2 "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 16627 CHEK2 "Pancreatic carcinoma" MONDO_0005192 "Disgenet " 16627 CHEK2 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 16627 CHEK2 Neuroblastoma MONDO_0005072 "Disgenet " 16627 CHEK2 "Adrenal cortical carcinoma" MONDO_0006639 "Disgenet " 16627 CHEK2 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 16627 CHEK2 "breast neoplasm malignant female carcinoma" MONDO_0004379 "Disgenet " 16627 CHEK2 "Cancer Syndrome, Hereditary" MONDO_0015356 "Disgenet " 16627 CHEK2 "Malignant neoplasm of breast (female), unspecified" MONDO_0004379 "Disgenet " 16627 CHEK2 "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 16627 CHEK2 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 16627 CHEK2 "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 16627 CHEK2 Melanoma MONDO_0005105 "Disgenet " 16627 CHEK2 "Hereditary prostate cancer" MONDO_0023122 "Disgenet " 16627 CHEK2 "familial cancer of breast" MONDO_0016419 "Disgenet " 16627 CHEK2 "Cancer, Lung" MONDO_0008903 "Disgenet " 16627 CHEK2 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 16627 CHEK2 "CARCINOMA OF LUNG" MONDO_0005138 "Disgenet " 16627 CHEK2 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 16627 CHEK2 Sarcoma MONDO_0005089 "Disgenet " 16627 CHEK2 "Hereditary Breast and Ovarian Cancer Syndrome" MONDO_0003582 "Disgenet " 16627 CHEK2 HNPCC MONDO_0018630 "Disgenet " 16627 CHEK2 "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 16627 CHEK2 "familial ovarian cancer" MONDO:0016248 "ClinGen " 16627 CHEK2 "CHEK2-related cancer predisposition" MONDO:0700271 "ClinGen " 16627 CHEK2 "hereditary nonpolyposis colon cancer" MONDO:0018630 "ClinGen " 16629 RAPGEF3 Obesity MONDO_0019182 "Disgenet " 1663 CD36 "Glucose Intolerance" MONDO_0001076 "Disgenet " 1663 CD36 "Coronary Disease" MONDO_0005010 "Disgenet " 1663 CD36 "Infection, Plasmodium" MONDO_0005136 "Disgenet " 1663 CD36 "High blood pressure" MONDO_0005044 "Disgenet " 1663 CD36 "Blood Platelet Disorder" MONDO_0002245 "Disgenet " 1663 CD36 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 1663 CD36 "PLATELET GLYCOPROTEIN IV DEFICIENCY" MONDO_0012031 "Disgenet " 1663 CD36 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 16636 KIF1B Pheochromocytoma MONDO_0008233 "Disgenet " 16636 KIF1B "Charcot-Marie-Tooth disease type 2A1" MONDO:0007308 "ClinGen " 16636 KIF1B "Liver cell carcinoma" MONDO_0007256 "Disgenet " 16636 KIF1B Neuroblastoma MONDO_0005072 "Disgenet " 16636 KIF1B "Charcot Marie Disease" MONDO_0011687 "Disgenet " 16636 KIF1B "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1" MONDO_0007308 "Disgenet " 16636 KIF1B "Multiple Sclerosis" MONDO_0005301 "Disgenet " 16636 KIF1B pheochromocytoma MONDO_0004974 "Disgenet " 16637 HTATIP2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 16639 SRRM2 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 1664 SCARB1 "Hepatitis C" MONDO_0005231 "Disgenet " 16643 SLMAP "Brugada Syndrome" MONDO_0015263 "Disgenet " 16643 SLMAP "Brugada syndrome" MONDO:0015263 "ClinGen " 16650 MRPL44 "mitochondrial disease" MONDO:0044970 "ClinGen " 16650 MRPL44 COXPD16 MONDO_0014162 "Disgenet " 16664 CAPN14 "Eosinophilic esophagitis" MONDO_0005361 "Disgenet " 16665 APLN "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1667 CD38 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 1667 CD38 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 16692 CD320 "methylmalonic acidemia due to transcobalamin receptor defect" MONDO:0013341 "ClinGen " 16692 CD320 "METHYLMALONIC ACIDEMIA, TCblR TYPE" MONDO_0013341 "Disgenet " 16695 BCAP31 "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 16695 BCAP31 "Global developmental delay" "Disgenet " 16695 BCAP31 CADDS MONDO_0018247 "Disgenet " 16695 BCAP31 "severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome" MONDO:0010334 "ClinGen " 16698 SORCS2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 16700 ZFPM2 "Congenital diaphragmatic hernia" MONDO_0007719 "Disgenet " 16700 ZFPM2 "Diaphragmatic Hernias" MONDO_0005711 "Disgenet " 16700 ZFPM2 "Fallot Tetralogy" MONDO_0008542 "Disgenet " 16700 ZFPM2 "Double Outlet Right Ventricle" MONDO_0018089 "Disgenet " 16700 ZFPM2 "46,XY SEX REVERSAL 9" MONDO_0014480 "Disgenet " 16704 SLC17A7 "Bipolar Disorders" MONDO_0004985 "Disgenet " 16704 SLC17A7 Anhedonia "Disgenet " 16704 SLC17A7 Schizophrenias MONDO_0005090 "Disgenet " 16709 CALCRL "Nonimmune hydrops" MONDO_0009369 "Disgenet " 16711 TLR6 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 16711 TLR6 Asthma MONDO_0004979 "Disgenet " 16712 FBXW7 CRC MONDO_0005335 "Disgenet " 16712 FBXW7 Gliomas MONDO_0021042 "Disgenet " 16712 FBXW7 "Cancer, Breast" MONDO_0007254 "Disgenet " 16712 FBXW7 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 16712 FBXW7 "Uterine Carcinosarcoma" MONDO_0006485 "Disgenet " 16712 FBXW7 Medulloblastoma MONDO_0007959 "Disgenet " 16712 FBXW7 "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 16712 FBXW7 "CARCINOMA OF ESOPHAGUS" MONDO_0007576 "Disgenet " 16712 FBXW7 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 16712 FBXW7 Glioblastoma MONDO_0018177 "Disgenet " 16712 FBXW7 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 16712 FBXW7 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 16712 FBXW7 "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 16712 FBXW7 "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 16712 FBXW7 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 16712 FBXW7 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 16712 FBXW7 "DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE" MONDO_0859280 "Disgenet " 16712 FBXW7 "Breast Neoplasms" MONDO_0021100 "Disgenet " 16712 FBXW7 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 16714 PKNOX2 Alcoholism MONDO_0002046 "Disgenet " 16725 DNAAF11 CILD19 MONDO_0013979 "Disgenet " 16725 DNAAF11 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 16725 DNAAF11 "primary ciliary dyskinesia 19" MONDO:0013979 "ClinGen " 16732 MCEE "methylmalonic aciduria" MONDO_0002012 "Disgenet " 16732 MCEE "methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency" MONDO:0009615 "ClinGen " 16732 MCEE "METHYLMALONYL-CoA EPIMERASE DEFICIENCY" MONDO_0009615 "Disgenet " 1674 CD3E "immunodeficiency 18" MONDO:0014278 "ClinGen " 1674 CD3E "Combined Immunodeficiencies, Severe" MONDO_0015974 "Disgenet " 1674 CD3E "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 1674 CD3E "Deficiency Syndrome, Immunological" MONDO_0021094 "Disgenet " 1674 CD3E IMD18 MONDO_0014278 "Disgenet " 16740 ZBTB11 "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69" MONDO_0032715 "Disgenet " 16744 CIZ1 Dystonia MONDO_0003441 "Disgenet " 1675 CD3G "IMMUNODEFICIENCY 17" MONDO_0014276 "Disgenet " 1675 CD3G "combined immunodeficiency due to CD3gamma deficiency" MONDO:0014276 "ClinGen " 16753 PRDX6 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 16753 PRDX6 "Lung Neoplasm" MONDO_0002732 "Disgenet " 16762 ZNF423 ciliopathy MONDO:0005308 "ClinGen " 16762 ZNF423 "NEPHRONOPHTHISIS 14" MONDO_0013916 "Disgenet " 16762 ZNF423 Nephronophthisis MONDO_0019005 "Disgenet " 16767 GRIN3A "Bipolar Disorders" MONDO_0004985 "Disgenet " 16767 GRIN3A Schizophrenias MONDO_0005090 "Disgenet " 1677 CD247 "Combined Immunodeficiencies, Severe" MONDO_0015974 "Disgenet " 1677 CD247 "Immunodeficiency due to Defect in CD3-Zeta" MONDO_0012426 "Disgenet " 1677 CD247 "immunodeficiency 25" MONDO:0012426 "ClinGen " 1677 CD247 "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 1678 CD4 "GRAVES DISEASE" MONDO_0005364 "Disgenet " 16783 CDC73 FIHP MONDO_0015027 "Disgenet " 16783 CDC73 "Parathyroid adenoma" MONDO_0006890 "Disgenet " 16783 CDC73 "Neoplasm, Parathyroid" MONDO_0012004 "Disgenet " 16783 CDC73 Hyperparathyroidism MONDO_0001741 "Disgenet " 16783 CDC73 "hyperparathyroidism 2 with jaw tumors" MONDO:0007768 "ClinGen " 16783 CDC73 "Ossifying fibroma of the jaw" "Disgenet " 16783 CDC73 "Cancer Syndrome, Hereditary" MONDO_0015356 "Disgenet " 16783 CDC73 "MEN I" MONDO_0017169 "Disgenet " 16783 CDC73 "Parathyroid gland" MONDO_0012004 "Disgenet " 16783 CDC73 "Parathyroid Carcinoma" MONDO_0012004 "Disgenet " 16783 CDC73 HPT-JT MONDO_0007768 "Disgenet " 16787 EDEM3 "congenital disorder of glycosylation, type 2v" MONDO:0030423 "ClinGen " 16791 TSEN15 PCH2F MONDO_0014874 "Disgenet " 16804 WWP2 "Osteoarthritis, Knee" MONDO_0005416 "Disgenet " 16806 UBR5 "Cancer, Breast" MONDO_0007254 "Disgenet " 16806 UBR5 "carcinoma of gallbladder (diagnosis)" MONDO_0003220 "Disgenet " 16808 UBR1 "JOHANSON-BLIZZARD SYNDROME" MONDO_0009479 "Disgenet " 1681 CD44 "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 1681 CD44 "duct carcinoma" MONDO_0005590 "Disgenet " 1681 CD44 "Bergers Disease" MONDO_0005342 "Disgenet " 1681 CD44 Neuroblastoma MONDO_0005072 "Disgenet " 1681 CD44 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 1681 CD44 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1681 CD44 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 1681 CD44 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 1681 CD44 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 1681 CD44 "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 1681 CD44 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 1681 CD44 "adenocarcinoma of large intestine (diagnosis)" MONDO_0005008 "Disgenet " 1681 CD44 "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 16812 COQ8A "Autosomal recessive cerebellar ataxia" MONDO_0015244 "Disgenet " 16812 COQ8A SCAR9 MONDO_0012784 "Disgenet " 16812 COQ8A "Cerebellar atrophy" "Disgenet " 16812 COQ8A "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 16816 CHD5 Neuroblastoma MONDO_0005072 "Disgenet " 16816 CHD5 "Cancer, Breast" MONDO_0007254 "Disgenet " 16816 CHD5 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 16817 ESS2 Schizophrenias MONDO_0005090 "Disgenet " 16817 ESS2 "DiGeorge's syndrome" MONDO_0018923 "Disgenet " 16824 HCAR3 Schizophrenias MONDO_0005090 "Disgenet " 16824 HCAR3 "Bipolar Disorders" MONDO_0004985 "Disgenet " 16830 IL32 Osteoporoses MONDO_0005298 "Disgenet " 16830 IL32 "Hepatitis B" MONDO_0005344 "Disgenet " 16830 IL32 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 16830 IL32 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 16831 TSPOAP1 Dystonia MONDO_0003441 "Disgenet " 16835 TAOK2 "Childhood autism" MONDO_0005260 "Disgenet " 16839 THEMIS2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 16841 LITAF "HMSN I" MONDO_0019011 "Disgenet " 16841 LITAF "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C" MONDO_0010995 "Disgenet " 16841 LITAF "Charcot Marie Disease" MONDO_0011687 "Disgenet " 16841 LITAF "Charcot-Marie-Tooth disease" MONDO:0015626 "ClinGen " 1685 CD5 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 1685 CD5 "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 16850 CTR9 "CTR9-related neurodevelopmental disorder" MONDO:1040006 "ClinGen " 16859 NOS1AP "Long QT Syndrome" MONDO_0002442 "Disgenet " 16859 NOS1AP "NEPHROTIC SYNDROME, TYPE 22" MONDO_0030895 "Disgenet " 16859 NOS1AP Schizophrenias MONDO_0005090 "Disgenet " 16864 DLGAP5 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 16867 RNF40 "congenital heart disease" MONDO:0005453 "ClinGen " 16873 FIG4 BTOP MONDO_0012986 "Disgenet " 16873 FIG4 HMSN MONDO_0012250 "Disgenet " 16873 FIG4 "Cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia" MONDO_0008995 "Disgenet " 16873 FIG4 "CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J" MONDO_0012640 "Disgenet " 16873 FIG4 "Abnormality of the skeletal system" "Disgenet " 16873 FIG4 "amyotrophic lateral sclerosis type 11" MONDO:0012945 "ClinGen " 16873 FIG4 "Charcot-Marie-Tooth disease" MONDO:0015626 "ClinGen " 16873 FIG4 ALS11 MONDO_0012945 "Disgenet " 16873 FIG4 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 16873 FIG4 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 16875 MRC2 Epithelioma MONDO_0004993 "Disgenet " 16877 MFN2 CMT6 MONDO_0019551 "Disgenet " 16877 MFN2 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B" MONDO_0014906 "Disgenet " 16877 MFN2 "Severe early-onset axonal neuropathy due to MFN2 deficiency" MONDO_0019549 "Disgenet " 16877 MFN2 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 16877 MFN2 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A" MONDO_0012231 "Disgenet " 16877 MFN2 "Lipomatosis, Multiple Symmetrical" MONDO_0006574 "Disgenet " 16877 MFN2 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 16877 MFN2 HMSN MONDO_0012250 "Disgenet " 16877 MFN2 "Peripheral axonal neuropathy" MONDO_0004183 "Disgenet " 16877 MFN2 "obsolete axonal hereditary motor and sensory neuropathy" MONDO:0018775 "ClinGen " 16877 MFN2 "HEREDITARY MOTOR SENSORY TYPE II NEUROPATHY" MONDO_0015626 "Disgenet " 16877 MFN2 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 16877 MFN2 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 16879 REC8 Azoospermia MONDO_0100459 "Disgenet " 16885 SH2D3A "Cancer, Breast" MONDO_0007254 "Disgenet " 1689 CD59 CRC MONDO_0005335 "Disgenet " 1689 CD59 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 1689 CD59 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 1689 CD59 "CD59 Deficiency" MONDO_0012858 "Disgenet " 16891 TRIB1 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 16891 TRIB1 "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 16891 TRIB1 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 16891 TRIB1 "Coronary Disease" MONDO_0005010 "Disgenet " 16891 TRIB1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 16892 CD96 "C syndrome" MONDO:0008893 "ClinGen " 16892 CD96 "C SYNDROME" MONDO_0008893 "Disgenet " 169 ACTR2 Schizophrenias MONDO_0005090 "Disgenet " 16901 SPEG "MYOPATHY, CENTRONUCLEAR, 5" MONDO_0014418 "Disgenet " 16901 SPEG "myopathy, centronuclear, 5" MONDO:0014418 "ClinGen " 16902 BCKDK "branched-chain keto acid dehydrogenase kinase deficiency" MONDO:0013970 "ClinGen " 16902 BCKDK "Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder)" MONDO_0013970 "Disgenet " 16902 BCKDK "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 16902 BCKDK BCKDKD MONDO_0013970 "Disgenet " 16903 TNIP1 "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 16903 TNIP1 Psoriases MONDO_0005083 "Disgenet " 16903 TNIP1 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 16903 TNIP1 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 16905 KLHL41 "Myopathies, Nemaline" MONDO_0018958 "Disgenet " 16905 KLHL41 "NEMALINE MYOPATHY 9" MONDO_0014326 "Disgenet " 16905 KLHL41 "nemaline myopathy 9" MONDO:0014326 "ClinGen " 16906 GSTK1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 16909 NDC80 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1691 CD6 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 16920 CIB1 "Disease, Lewandowsky-Lutz" MONDO_0009176 "Disgenet " 16921 AGAP2 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 16921 AGAP2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1693 CD68 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 1693 CD68 Obesity MONDO_0019182 "Disgenet " 1693 CD68 "Arthritic Psoriasis" MONDO_0011849 "Disgenet " 16931 HYOU1 "granulocytopenia with immunoglobulin abnormality" MONDO:0009305 "ClinGen " 16931 HYOU1 "Granulocytopenia with Immunoglobulin Abnormality" MONDO_0009305 "Disgenet " 16932 NEBL Cardiomyopathy MONDO_0004994 "Disgenet " 16932 NEBL "Atrial Fibrillation" MONDO_0004981 "Disgenet " 16932 NEBL "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 16932 NEBL "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 16932 NEBL "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 16935 ATG7 "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31" MONDO_0030323 "Disgenet " 16935 ATG7 "Primary ovarian failure" MONDO_0005387 "Disgenet " 16935 ATG7 "spinocerebellar ataxia, autosomal recessive 31" MONDO:0030323 "ClinGen " 16935 ATG7 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 16937 ARL6IP5 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 1694 CD69 Arthritides MONDO_0005578 "Disgenet " 1694 CD69 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 16940 DGAT2 "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 16940 DGAT2 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 16947 ERLIN1 "hereditary spastic paraplegia 62" MONDO:0014302 "ClinGen " 16947 ERLIN1 SPG62 MONDO_0014302 "Disgenet " 16947 ERLIN1 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 16947 ERLIN1 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 16950 STAMBP Microcephalies MONDO_0001149 "Disgenet " 16950 STAMBP MICCAP MONDO_0013659 "Disgenet " 16952 TXNIP "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 16952 TXNIP "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 16952 TXNIP "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 16966 ZMYND11 "Global developmental delay" "Disgenet " 16966 ZMYND11 "syndromic complex neurodevelopmental disorder" MONDO:0800439 "ClinGen " 16966 ZMYND11 "Childhood autism" MONDO_0005260 "Disgenet " 16966 ZMYND11 Schizophrenias MONDO_0005090 "Disgenet " 16966 ZMYND11 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 1697 CD74 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 1697 CD74 "Breast Neoplasms" MONDO_0021100 "Disgenet " 16974 SRCAP "FLOATING-HARBOR SYNDROME" MONDO_0007621 "Disgenet " 16974 SRCAP "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 16974 SRCAP "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 16974 SRCAP "Floating-Harbor syndrome" MONDO:0007621 "ClinGen " 1698 CD79A "agammaglobulinemia 3, autosomal recessive" MONDO:0013288 "ClinGen " 1698 CD79A "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 1698 CD79A Agammaglobulinemia MONDO_0015977 "Disgenet " 1698 CD79A AGM3 MONDO_0013288 "Disgenet " 1698 CD79A Hypogammaglobulinemias MONDO_0015977 "Disgenet " 1699 CD79B "Burkitt Lymphoma" MONDO_0007243 "Disgenet " 1699 CD79B Agammaglobulinemia MONDO_0015977 "Disgenet " 1699 CD79B "Centrocytic Small-Cell Lymphoma" MONDO_0018876 "Disgenet " 1699 CD79B "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 1699 CD79B "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 1699 CD79B Hypogammaglobulinemias MONDO_0015977 "Disgenet " 1699 CD79B "agammaglobulinemia 6, autosomal recessive" MONDO:0012987 "ClinGen " 1699 CD79B "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 1699 CD79B "Brill Symmers Disease" MONDO_0018906 "Disgenet " 1699 CD79B AGM6 MONDO_0012987 "Disgenet " 1699 CD79B Microglioma MONDO_0002571 "Disgenet " 16993 SEC61B "SEC61B-related polycystic liver disease" MONDO:0550003 "ClinGen " 16999 CLP1 "PONTOCEREBELLAR HYPOPLASIA, TYPE 10" MONDO_0014349 "Disgenet " 16999 CLP1 "Pontocerebellar hypoplasia" MONDO_0020135 "Disgenet " 1700 CD80 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 1700 CD80 "primary biliary cirrhosis" MONDO_0005388 "Disgenet " 17001 GLIPR1 Nephroblastoma MONDO_0019004 "Disgenet " 1701 CD81 "IMMUNODEFICIENCY, COMMON VARIABLE, 6" MONDO_0013286 "Disgenet " 1701 CD81 "immunodeficiency, common variable, 6" MONDO:0013286 "ClinGen " 1701 CD81 "Hepatitis C" MONDO_0005231 "Disgenet " 1701 CD81 "Common Variable Immunodeficiency" MONDO_0015517 "Disgenet " 17019 PRICKLE1 "Epilepsies, Progressive Myoclonic" MONDO_0020074 "Disgenet " 17019 PRICKLE1 Epilepsies MONDO_0005027 "Disgenet " 17019 PRICKLE1 epilepsy MONDO:0005027 "ClinGen " 17019 PRICKLE1 "progressive myoclonus epilepsy" MONDO:0020074 "ClinGen " 17019 PRICKLE1 EPM1B MONDO_0012904 "Disgenet " 17020 IRAK3 Asthma MONDO_0004979 "Disgenet " 17021 ASTN2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 17021 ASTN2 Schizophrenias MONDO_0005090 "Disgenet " 17022 HPS5 "Hermanski Pudlak Syndrome" MONDO_0019312 "Disgenet " 17022 HPS5 "HERMANSKY-PUDLAK SYNDROME 5" MONDO_0013557 "Disgenet " 17022 HPS5 "Hermansky-Pudlak syndrome 5" MONDO:0013557 "ClinGen " 1703 CD83 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 17035 EXOSC8 "HYPOMYELINATION WITH SPINAL MUSCULAR ATROPHY AND CEREBELLAR HYPOPLASIA" MONDO_0014485 "Disgenet " 17042 PUF60 "syndromic intellectual disability" MONDO:0000508 "ClinGen " 17042 PUF60 "VERHEIJ SYNDROME" MONDO_0014263 "Disgenet " 17043 NIPA1 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 17043 NIPA1 FSP3 MONDO_0010878 "Disgenet " 17043 NIPA1 "Paraplegias, Spastic" MONDO_0003757 "Disgenet " 17043 NIPA1 "Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant" MONDO_0019064 "Disgenet " 17043 NIPA1 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 1705 CD86 "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 1705 CD86 "Contact Dermatitides" MONDO_0005480 "Disgenet " 1705 CD86 "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 1705 CD86 "Autoimmune Thrombocytopenic Purpuras" MONDO_0008558 "Disgenet " 1705 CD86 COPD MONDO_0005002 "Disgenet " 1705 CD86 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 1705 CD86 Asthma MONDO_0004979 "Disgenet " 1705 CD86 "Multiple Myeloma" MONDO_0009693 "Disgenet " 1705 CD86 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 17063 RAB3GAP1 WARBM MONDO_0016649 "Disgenet " 17063 RAB3GAP1 "Cataract, mental retardation, hypogonadism" MONDO_0023910 "Disgenet " 17063 RAB3GAP1 "Congenital cataract" MONDO_0008925 "Disgenet " 17063 RAB3GAP1 "Warburg Sjo Fledelius syndrome" MONDO_0016649 "Disgenet " 17063 RAB3GAP1 "Warburg micro syndrome" MONDO:0016649 "ClinGen " 17068 PALLD "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 17068 PALLD "Hereditary Pancreatic Carcinoma" MONDO_0015278 "Disgenet " 17068 PALLD "Pancreatic carcinoma" MONDO_0005192 "Disgenet " 17071 KDM4C "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 17071 KDM4C "Cancer, Breast" MONDO_0007254 "Disgenet " 17073 ARHGAP26 JMML MONDO_0011908 "Disgenet " 17074 SARM1 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 17075 TAB2 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 17075 TAB2 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 17075 TAB2 Cardiomyopathy MONDO_0004994 "Disgenet " 17082 MLC1 "megalencephalic leukoencephalopathy with subcortical cysts 1" MONDO:0024555 "ClinGen " 17082 MLC1 "Catatonic Schizophrenias" MONDO_0011552 "Disgenet " 17082 MLC1 Schizophrenias MONDO_0005090 "Disgenet " 17082 MLC1 "MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS" MONDO_0024555 "Disgenet " 17082 MLC1 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 17084 SYNE2 EDMD5 MONDO_0013072 "Disgenet " 17084 SYNE2 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 17084 SYNE2 "Emery-Dreifuss muscular dystrophy" MONDO_0016830 "Disgenet " 17085 EXOC6B "SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3" MONDO_0032724 "Disgenet " 17087 ICOSLG "Combined immunodeficiencies" MONDO_0015131 "Disgenet " 17087 ICOSLG "combined immunodeficiency" MONDO:0015131 "ClinGen " 17089 SYNE1 "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 17089 SYNE1 EDMD4 MONDO_0013071 "Disgenet " 17089 SYNE1 ARCA1 MONDO_0012549 "Disgenet " 17089 SYNE1 "Emery-Dreifuss muscular dystrophy" MONDO_0016830 "Disgenet " 17089 SYNE1 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 17089 SYNE1 Arthrogryposes MONDO_0015168 "Disgenet " 17089 SYNE1 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 17089 SYNE1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 17089 SYNE1 Cardiomyopathy MONDO_0004994 "Disgenet " 17089 SYNE1 "Autosomal recessive cerebellar ataxia" MONDO_0015244 "Disgenet " 17089 SYNE1 "Autosomal Recessive Cerebellar Ataxia Type 1" MONDO_0012549 "Disgenet " 17089 SYNE1 "Spastic ataxia" MONDO_0017845 "Disgenet " 17089 SYNE1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 17089 SYNE1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 17089 SYNE1 CRC MONDO_0005335 "Disgenet " 1709 CD9 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 1709 CD9 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 1709 CD9 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1709 CD9 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 1709 CD9 Glioblastoma MONDO_0018177 "Disgenet " 1709 CD9 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 17090 ARHGEF18 "inherited retinal dystrophy" MONDO:0019118 "ClinGen " 17091 NCSTN Schizophrenias MONDO_0005090 "Disgenet " 17091 NCSTN "Hidradenitis Suppurativa" MONDO_0006559 "Disgenet " 17091 NCSTN "Alzheimer Disease" MONDO_0012630 "Disgenet " 17095 LARS2 "Perrault syndrome" MONDO_0017312 "Disgenet " 17095 LARS2 "Perrault syndrome" MONDO:0017312 "ClinGen " 17095 LARS2 "HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA" MONDO_0014869 "Disgenet " 17095 LARS2 "Primary ovarian failure" MONDO_0005387 "Disgenet " 17095 LARS2 "PERRAULT SYNDROME 4" MONDO_0017312 "Disgenet " 17097 EXOSC2 "SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES" MONDO_0044634 "Disgenet " 17098 DICER1 Medulloblastoma MONDO_0007959 "Disgenet " 17098 DICER1 "malignant arrhenoblastoma of ovary" MONDO_0020542 "Disgenet " 17098 DICER1 Pineoblastoma MONDO_0016722 "Disgenet " 17098 DICER1 "Familial Malignant Neoplasm" "Disgenet " 17098 DICER1 "Liver Neoplasm" MONDO_0002691 "Disgenet " 17098 DICER1 "Childhood Renal Wilms' Tumor" MONDO_0024676 "Disgenet " 17098 DICER1 "DICER1-related tumor predisposition" MONDO:0100216 "ClinGen " 17098 DICER1 "GLOW SYNDROME" MONDO_0018445 "Disgenet " 17098 DICER1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 17098 DICER1 "Embryonal rhabdomyosarcoma" MONDO_0009993 "Disgenet " 17098 DICER1 FMNG "Disgenet " 17098 DICER1 "Cancer Syndrome, Hereditary" MONDO_0015356 "Disgenet " 17098 DICER1 Gynandroblastoma MONDO_0020540 "Disgenet " 17098 DICER1 "Granulosa cell tumor, malignant" MONDO_0006036 "Disgenet " 17098 DICER1 Schizophrenias MONDO_0005090 "Disgenet " 17098 DICER1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 17098 DICER1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 17098 DICER1 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 17098 DICER1 Rhabdomyosarcoma MONDO_0005212 "Disgenet " 17098 DICER1 Nephroblastoma MONDO_0019004 "Disgenet " 17098 DICER1 "Pulmonary Blastoma of Childhood" MONDO_0011014 "Disgenet " 17098 DICER1 "PLEUROPULMONARY BLASTOMA" MONDO_0011014 "Disgenet " 171 ACVR1 "myositis ossificans progressiva" MONDO_0003964 "Disgenet " 171 ACVR1 "congenital heart disease" MONDO:0005453 "ClinGen " 171 ACVR1 "fibrodysplasia ossificans progressiva" MONDO:0007606 "ClinGen " 171 ACVR1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 171 ACVR1 "glioma of brain stem (diagnosis)" MONDO_0002911 "Disgenet " 171 ACVR1 "Glioma, malignant" MONDO_0100342 "Disgenet " 171 ACVR1 Gliomas MONDO_0021042 "Disgenet " 17104 CDON Holoprosencephalies MONDO_0016296 "Disgenet " 17104 CDON Coloboma MONDO_0007350 "Disgenet " 17104 CDON "Pituitary Stalk Interruption Syndrome" MONDO_0019828 "Disgenet " 17104 CDON "HOLOPROSENCEPHALY 11" MONDO_0013642 "Disgenet " 17109 ADAMTS17 "Weill-Marchesani syndrome" MONDO_0018096 "Disgenet " 17109 ADAMTS17 "Weill-Marchesani-Like Syndrome" MONDO_0013176 "Disgenet " 17110 ADAMTS18 "Knobloch syndrome" MONDO_0800166 "Disgenet " 17110 ADAMTS18 "MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS" MONDO_0014195 "Disgenet " 17110 ADAMTS18 "microcornea-myopic chorioretinal atrophy" MONDO:0014195 "ClinGen " 17111 ADAMTS19 "congenital heart disease" MONDO:0005453 "ClinGen " 17111 ADAMTS19 "Heart Valve Disease" MONDO_0002869 "Disgenet " 17116 CATSPER1 "Infertility, Male" MONDO_0005372 "Disgenet " 1712 CDA "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 1712 CDA "Breast Neoplasms" MONDO_0021100 "Disgenet " 17123 SLC9A7 MRX108 MONDO_0026723 "Disgenet " 17128 SLC39A3 "Bipolar Disorders" MONDO_0004985 "Disgenet " 17129 SLC39A4 "acrodermatitis enteropathica" MONDO:0008713 "ClinGen " 17129 SLC39A4 "Acrodermatitis enteropathica" MONDO_0008713 "Disgenet " 17129 SLC39A4 Acrodermatitides MONDO_0006523 "Disgenet " 1713 CDAN1 "anemia, congenital dyserythropoietic, type 1a" MONDO:0009135 "ClinGen " 1713 CDAN1 "Anemia, Dyserythropoietic, Congenital" MONDO_0019403 "Disgenet " 1713 CDAN1 "ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I" MONDO_0014285 "Disgenet " 1713 CDAN1 CDAN1A MONDO_0009135 "Disgenet " 17142 OPTN "Motor Neuron Disease" MONDO_0008780 "Disgenet " 17142 OPTN ALS12 MONDO_0013264 "Disgenet " 17142 OPTN Glaucomas MONDO_0005041 "Disgenet " 17142 OPTN "Frontotemporal dementia" MONDO_0017276 "Disgenet " 17142 OPTN "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 17142 OPTN "Primary open-angle glaucoma" MONDO_0100553 "Disgenet " 17142 OPTN "amyotrophic lateral sclerosis type 12" MONDO:0013264 "ClinGen " 17142 OPTN "glaucoma, normal tension, susceptibility to" MONDO:0011693 "ClinGen " 17142 OPTN "PAGET'S BONE DISEASE" MONDO_0005382 "Disgenet " 17142 OPTN "Normal tension glaucoma" MONDO_0006837 "Disgenet " 17142 OPTN "Pigmentary glaucoma" MONDO_0005338 "Disgenet " 17146 ARL2BP "RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS" MONDO_0014186 "Disgenet " 17146 ARL2BP "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 17146 ARL2BP "Autosomal recessive retinitis pigmentosa" "Disgenet " 17146 ARL2BP ciliopathy MONDO:0005308 "ClinGen " 17151 ORC6 "Meier-Gorlin syndrome 3" MONDO:0013430 "ClinGen " 17151 ORC6 "EAR, PATELLA, SHORT STATURE SYNDROME" MONDO_0016817 "Disgenet " 17151 ORC6 "MEIER-GORLIN SYNDROME 3" MONDO_0013430 "Disgenet " 17156 LY96 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 17158 PLD3 SCA46 MONDO_0033481 "Disgenet " 1717 SEPTIN7 Schizophrenias MONDO_0005090 "Disgenet " 17173 BOC Holoprosencephalies MONDO_0016296 "Disgenet " 17175 PLCE1 "Dengue hemorrhagic fever" MONDO_0005358 "Disgenet " 17175 PLCE1 "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 17175 PLCE1 NPHS1 MONDO_0002350 "Disgenet " 17175 PLCE1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 17175 PLCE1 "nephrotic syndrome, type 3" MONDO:0012546 "ClinGen " 17175 PLCE1 NPHS3 MONDO_0012546 "Disgenet " 17175 PLCE1 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 17175 PLCE1 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 17175 PLCE1 "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 1718 CDC14A "Infertility, Male" MONDO_0005372 "Disgenet " 1718 CDC14A DFNB32 MONDO_0012091 "Disgenet " 1718 CDC14A "hearing impairment and infertile male syndrome" MONDO:0100069 "ClinGen " 1718 CDC14A "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 17185 ASB10 "obsolete glaucoma 1, open angle, F" MONDO:0011311 "ClinGen " 17192 TIRAP "Infection, Plasmodium" MONDO_0005136 "Disgenet " 17194 NDUFA13 MC1DN28 MONDO_0032632 "Disgenet " 17194 NDUFA13 "Leigh syndrome" MONDO:0009723 "ClinGen " 17198 CHSY1 "TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME" MONDO_0011533 "Disgenet " 172 ACVR1B "Pancreatic carcinoma" MONDO_0005192 "Disgenet " 172 ACVR1B "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 17208 BICD2 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 17208 BICD2 "Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant" MONDO_0008026 "Disgenet " 17208 BICD2 Arthrogryposes MONDO_0015168 "Disgenet " 17208 BICD2 "SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT" MONDO_0014121 "Disgenet " 17208 BICD2 "SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT" MONDO_0032660 "Disgenet " 17209 STK36 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 17209 STK36 "ciliary dyskinesia, primary, 46" MONDO:0030332 "ClinGen " 17210 DHX37 "Gonadal Dysgenesis, 46,XY" MONDO_0010765 "Disgenet " 17210 DHX37 TRS MONDO_8000015 "Disgenet " 17213 COLEC11 "Ptosis of eyelids with diastasis recti and hip dysplasia" MONDO_0009927 "Disgenet " 17213 COLEC11 "Craniofacial ulnar renal syndrome" MONDO_0017398 "Disgenet " 17217 DIP2A "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 1722 CDK1 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 1722 CDK1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1722 CDK1 "Cancer, Breast" MONDO_0007254 "Disgenet " 1722 CDK1 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 1722 CDK1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 1722 CDK1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 1722 CDK1 "Malignant neoplasm of cervix uteri" MONDO_0002974 "Disgenet " 17228 RAD54B "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 17228 RAD54B "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 17228 RAD54B "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 17228 RAD54B "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 1723 CDC20 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 17233 ELMO2 "VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS" MONDO_0011744 "Disgenet " 17233 ELMO2 "RAMON SYNDROME" MONDO_0009954 "Disgenet " 17260 TNFAIP8 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 17264 POLR1A "ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE" MONDO_0014651 "Disgenet " 17268 CENPH CRC MONDO_0005335 "Disgenet " 17271 RRAS2 "NOONAN SYNDROME 12" MONDO_0032839 "Disgenet " 17271 RRAS2 "Noonan Syndrome" MONDO_0018997 "Disgenet " 17271 RRAS2 "Noonan syndrome" MONDO:0018997 "ClinGen " 1728 CDC27 "Cancer, Breast" MONDO_0007254 "Disgenet " 17284 POT1 "Dyskeratosis Congenita" MONDO_0015780 "Disgenet " 17284 POT1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 17284 POT1 Melanoma MONDO_0005105 "Disgenet " 17284 POT1 "Hereditary Cutaneous Melanoma" MONDO_0018961 "Disgenet " 17286 EXOSC1 PCH1F MONDO_0030261 "Disgenet " 17293 PRKD2 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 17294 DAB2IP "Lung Neoplasm" MONDO_0002732 "Disgenet " 17294 DAB2IP "Aortic Aneurysm, Abdominal" MONDO_0005350 "Disgenet " 17294 DAB2IP "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 17294 DAB2IP "Coronary Disease" MONDO_0005010 "Disgenet " 17294 DAB2IP "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 17294 DAB2IP "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 17294 DAB2IP "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 17296 RRM2B "mitochondrial dna depletion" MONDO_0018158 "Disgenet " 17296 RRM2B "MNGIE syndrome (diagnosis)" MONDO_0017575 "Disgenet " 17296 RRM2B "Progressive external ophthalmoplegia" MONDO_0019016 "Disgenet " 17296 RRM2B "Acidosis, Lactic" MONDO_0006040 "Disgenet " 17296 RRM2B "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 173 ACVR2A "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 17302 NEGR1 Obesity MONDO_0019182 "Disgenet " 17317 TIMM22 COXPD43 MONDO_0030017 "Disgenet " 17318 RXFP2 "Undescended testicle, bilateral" MONDO_0009047 "Disgenet " 17318 RXFP2 Cryptorchism MONDO_0009047 "Disgenet " 17327 WAC "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation" MONDO_0014741 "Disgenet " 17327 WAC "DeSanto-Shinawi syndrome" MONDO:0018760 "ClinGen " 17327 WAC DESSH MONDO_0014741 "Disgenet " 17327 WAC "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 17328 DTNBP1 "Hermanski Pudlak Syndrome" MONDO_0019312 "Disgenet " 17328 DTNBP1 "HERMANSKY-PUDLAK SYNDROME 7" MONDO_0013559 "Disgenet " 17328 DTNBP1 Schizophrenias MONDO_0005090 "Disgenet " 17328 DTNBP1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 17328 DTNBP1 "Hermansky-Pudlak syndrome 7" MONDO:0013559 "ClinGen " 17328 DTNBP1 "Mental Disorder" MONDO_0005084 "Disgenet " 17328 DTNBP1 "Depressive neurosis" MONDO_0002050 "Disgenet " 17328 DTNBP1 "severe major depressive disorder with psychotic features" "Disgenet " 17328 DTNBP1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 17328 DTNBP1 "Affective Disorders" MONDO_0005371 "Disgenet " 17328 DTNBP1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 17328 DTNBP1 Depression MONDO_0002050 "Disgenet " 17340 PRPF8 "RETINITIS PIGMENTOSA 13" MONDO_0010806 "Disgenet " 17340 PRPF8 "Autosomal dominant retinitis pigmentosa" "Disgenet " 17340 PRPF8 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 17340 PRPF8 "PRPF8-related retinopathy" MONDO:0700234 "ClinGen " 17342 BRWD3 "X-linked syndromic intellectual disability" MONDO:0020119 "ClinGen " 17342 BRWD3 MRX93 MONDO_0010393 "Disgenet " 17342 BRWD3 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 17348 PRPF3 RP18 MONDO_0011075 "Disgenet " 17348 PRPF3 "retinitis pigmentosa 18" MONDO:0011075 "ClinGen " 17348 PRPF3 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 17350 CDC40 "PONTOCEREBELLAR HYPOPLASIA, TYPE 15" MONDO_0030259 "Disgenet " 17358 TPK1 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 17358 TPK1 "Leigh syndrome" MONDO:0009723 "ClinGen " 1736 CDC42 "macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome" MONDO:0014757 "ClinGen " 1736 CDC42 Schizophrenias MONDO_0005090 "Disgenet " 1736 CDC42 "TAKENOUCHI-KOSAKI SYNDROME" MONDO_0014757 "Disgenet " 1736 CDC42 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 1736 CDC42 Carcinoma MONDO_0004993 "Disgenet " 17362 ARID5B "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 17362 ARID5B "GRAVES DISEASE" MONDO_0005364 "Disgenet " 17362 ARID5B ALL MONDO_0004967 "Disgenet " 17366 AASS Hyperlysinemias MONDO_0017351 "Disgenet " 17366 AASS hyperlysinemia MONDO:0009388 "ClinGen " 17397 BANF1 "Nestor-Guillermo progeria syndrome" MONDO:0013523 "ClinGen " 17397 BANF1 PSCOO MONDO_0013523 "Disgenet " 174 ACVR2B HTX4 MONDO_0013403 "Disgenet " 174 ACVR2B "Inversus, Situs" MONDO_0010029 "Disgenet " 174 ACVR2B "heterotaxia syndrome" MONDO_0018677 "Disgenet " 17412 CLCF1 "Crisponi syndrome" MONDO_0010091 "Disgenet " 17412 CLCF1 CISS2 MONDO_0010091 "Disgenet " 1742 LRBA "IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY" MONDO_0013863 "Disgenet " 1742 LRBA "combined immunodeficiency due to LRBA deficiency" MONDO:0013863 "ClinGen " 1742 LRBA "Cancer, Breast" MONDO_0007254 "Disgenet " 1743 CDC5L "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 17449 CYP39A1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 17451 CYSLTR1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 17451 CYSLTR1 Rhinitides MONDO_0003014 "Disgenet " 17451 CYSLTR1 Asthma MONDO_0004979 "Disgenet " 17452 AS3MT Schizophrenias MONDO_0005090 "Disgenet " 17452 AS3MT "Toxic effect of arsenic and its compounds" "Disgenet " 17452 AS3MT "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 17452 AS3MT "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 17452 AS3MT "Lung Neoplasm" MONDO_0002732 "Disgenet " 17468 PDLIM5 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 17468 PDLIM5 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 17468 PDLIM5 "Bipolar Disorders" MONDO_0004985 "Disgenet " 17468 PDLIM5 Schizophrenias MONDO_0005090 "Disgenet " 17479 RCHY1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 17493 GMNN "Liver cell carcinoma" MONDO_0007256 "Disgenet " 17493 GMNN "Meier-Gorlin syndrome 6" MONDO:0014794 "ClinGen " 17493 GMNN "EAR, PATELLA, SHORT STATURE SYNDROME" MONDO_0016817 "Disgenet " 17493 GMNN MGORS6 MONDO_0014794 "Disgenet " 17494 GJC2 "LYMPHEDEMA, HEREDITARY, IC, FORMERLY" MONDO_0013278 "Disgenet " 17494 GJC2 "hypomyelinating leukodystrophy 2" MONDO:0012125 "ClinGen " 17494 GJC2 "Milroys Disease" MONDO_0019313 "Disgenet " 17494 GJC2 "Paraplegias, Spastic" MONDO_0003757 "Disgenet " 17494 GJC2 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 17494 GJC2 Lymphedema MONDO_0019297 "Disgenet " 17494 GJC2 "SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE" MONDO_0013179 "Disgenet " 17494 GJC2 PMLD1 MONDO_0012125 "Disgenet " 175 ACVRL1 "Hereditary hemorrhagic telangiectasia" MONDO_0019180 "Disgenet " 175 ACVRL1 HHT1 MONDO_0008535 "Disgenet " 175 ACVRL1 "telangiectasia, hereditary hemorrhagic, type 2" MONDO:0010880 "ClinGen " 175 ACVRL1 "Pulmonary arterial hypertension" MONDO_0015924 "Disgenet " 175 ACVRL1 "Familial primary pulmonary hypertension" MONDO_0001999 "Disgenet " 175 ACVRL1 HHT2 MONDO_0010880 "Disgenet " 1750 CDH11 Alcoholism MONDO_0002046 "Disgenet " 1750 CDH11 "Brachioskeletogenital syndrome" MONDO_0008885 "Disgenet " 1750 CDH11 "Teebi hypertelorism syndrome 2" MONDO:0030674 "ClinGen " 1750 CDH11 "Elsahy-Waters syndrome" MONDO:0008885 "ClinGen " 1750 CDH11 "TEEBI HYPERTELORISM SYNDROME 2" MONDO_0030674 "Disgenet " 1751 CDH12 Alcoholism MONDO_0002046 "Disgenet " 17512 HOMER1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 17512 HOMER1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 17512 HOMER1 Depression MONDO_0002050 "Disgenet " 17512 HOMER1 Schizophrenias MONDO_0005090 "Disgenet " 17512 HOMER1 "Depressive neurosis" MONDO_0002050 "Disgenet " 17513 HOMER2 "DEAFNESS, AUTOSOMAL DOMINANT 68" MONDO_0014740 "Disgenet " 17513 HOMER2 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 1753 CDH13 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 1753 CDH13 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 1753 CDH13 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 1753 CDH13 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1753 CDH13 "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 1753 CDH13 "Barrett Esophagus" MONDO_0013662 "Disgenet " 1753 CDH13 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 1753 CDH13 "Lung Neoplasm" MONDO_0002732 "Disgenet " 1753 CDH13 "Cancer, Breast" MONDO_0007254 "Disgenet " 1753 CDH13 Depression MONDO_0002050 "Disgenet " 1753 CDH13 "Depressive neurosis" MONDO_0002050 "Disgenet " 1753 CDH13 Alcoholism MONDO_0002046 "Disgenet " 1753 CDH13 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 1753 CDH13 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 1753 CDH13 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 1753 CDH13 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 1753 CDH13 "Malignant neoplasm of cervix uteri" MONDO_0002974 "Disgenet " 1753 CDH13 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1753 CDH13 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 1754 CDH15 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 1754 CDH15 MRD3 MONDO_0012946 "Disgenet " 1754 CDH15 "intellectual disability" MONDO:0001071 "ClinGen " 17546 JDP2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 17550 KREMEN1 "ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE" MONDO_0044305 "Disgenet " 1756 CDH17 "Bipolar Disorders" MONDO_0004985 "Disgenet " 1756 CDH17 Psychosis MONDO_0005485 "Disgenet " 17563 METTL3 "Multiple Myeloma" MONDO_0009693 "Disgenet " 17572 EPDR1 "Angle Closure Glaucoma" MONDO_0001744 "Disgenet " 17574 ALPK3 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 17574 ALPK3 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 17574 ALPK3 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 17574 ALPK3 Cardiomyopathy MONDO_0004994 "Disgenet " 17575 SPEN "Cancer, Breast" MONDO_0007254 "Disgenet " 17575 SPEN "Radio-Tartaglia syndrome" MONDO:0859143 "ClinGen " 17575 SPEN "RADIO-TARTAGLIA SYNDROME" MONDO_0859143 "Disgenet " 17582 KAT6B "KAT6B-related multiple congenital anomalies syndrome" MONDO:0036042 "ClinGen " 17582 KAT6B RASopathy MONDO:0021060 "ClinGen " 17582 KAT6B "Cancer, Breast" MONDO_0007254 "Disgenet " 17582 KAT6B "GENITOPATELLAR SYNDROME" MONDO_0011640 "Disgenet " 17582 KAT6B "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 17582 KAT6B Blepharophimoses MONDO_0001008 "Disgenet " 17582 KAT6B "Fibroid Tumor" MONDO_0001572 "Disgenet " 17582 KAT6B "Child Development Disorder" MONDO_0005287 "Disgenet " 17582 KAT6B "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 17582 KAT6B "Developmental delay" "Disgenet " 17582 KAT6B "KAT6B-related multiple congenital anomalies syndrome" MONDO_0036042 "Disgenet " 17582 KAT6B "Mental retardation unusual facies hypothyroidism" MONDO_0011365 "Disgenet " 17587 MTCH2 Obesity MONDO_0019182 "Disgenet " 1759 CDH2 ARVD14 MONDO_0030062 "Disgenet " 1759 CDH2 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 1759 CDH2 "Arrhythmogenic right ventricular dysplasia" MONDO_0016587 "Disgenet " 1759 CDH2 "AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME" MONDO_0030065 "Disgenet " 1759 CDH2 "Absent corpus callosum" MONDO_0009022 "Disgenet " 1759 CDH2 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 1759 CDH2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 1759 CDH2 "arrhythmogenic right ventricular cardiomyopathy" MONDO:0016587 "ClinGen " 17597 NCDN "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 17601 CADM3 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 17601 CADM3 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 17616 IL17RD "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 17616 IL17RD "Syndrome, Kallmann's" MONDO_0013961 "Disgenet " 17616 IL17RD "HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA" MONDO_0014103 "Disgenet " 17616 IL17RD "Hypogonadotropic hypogonadism" MONDO_0014102 "Disgenet " 17619 NDE1 MHAC MONDO_0011504 "Disgenet " 17619 NDE1 "microcephaly with lissencephaly and/or hydranencephaly" MONDO:0700116 "ClinGen " 17619 NDE1 Lissencephaly MONDO_0018838 "Disgenet " 17619 NDE1 Schizophrenias MONDO_0005090 "Disgenet " 1762 CDH3 "HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY" MONDO_0011107 "Disgenet " 1762 CDH3 "Macular dystrophy" "Disgenet " 1762 CDH3 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 1762 CDH3 "EEM syndrome" MONDO:0009155 "ClinGen " 1762 CDH3 "Ectodermal dysplasia, ectrodactyly, and macular dystrophy" MONDO_0009155 "Disgenet " 17620 NDEL1 Schizophrenias MONDO_0005090 "Disgenet " 17625 ZNF674 "X-linked intellectual disability" MONDO:0100284 "ClinGen " 17635 CD274 "Breast cancer (ductal)" MONDO_0004953 "Disgenet " 17635 CD274 "Lymphatic Metastases" "Disgenet " 17635 CD274 "Neoplasm, Thymus" MONDO_0005197 "Disgenet " 17635 CD274 "Carcinomas, Infiltrating Duct" MONDO_0005590 "Disgenet " 17635 CD274 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 17635 CD274 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 17635 CD274 Melanoma MONDO_0005105 "Disgenet " 17635 CD274 "Lung Neoplasm" MONDO_0002732 "Disgenet " 17635 CD274 Lymphomas MONDO_0005062 "Disgenet " 17635 CD274 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 1764 CDH5 "Breast Neoplasms" MONDO_0021100 "Disgenet " 1764 CDH5 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 17642 DCLRE1C "ATHABASKAN SEVERE COMBINED IMMUNODEFICIENCY" MONDO_0011225 "Disgenet " 17642 DCLRE1C "Combined Immunodeficiencies, Severe" MONDO_0015974 "Disgenet " 17642 DCLRE1C "severe combined immunodeficiency due to DCLRE1C deficiency" MONDO:0011225 "ClinGen " 17642 DCLRE1C "SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION" MONDO_0011225 "Disgenet " 17642 DCLRE1C "OMENN SYNDROME" MONDO_0015974 "Disgenet " 17644 PIWIL2 "Infertility, Male" MONDO_0005372 "Disgenet " 17646 NGLY1 CDDG MONDO_0031376 "Disgenet " 17646 NGLY1 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 17646 NGLY1 "congenital disorder of deglycosylation 1" MONDO:0800044 "ClinGen " 17646 NGLY1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 17646 NGLY1 "Global developmental delay" "Disgenet " 17649 POPDC3 "Limb-girdle muscular dystrophy autosomal recessive" MONDO_0015152 "Disgenet " 17649 POPDC3 "autosomal recessive limb-girdle muscular dystrophy" MONDO:0015152 "ClinGen " 17652 PORCN "focal dermal hypoplasia" MONDO:0010592 "ClinGen " 17652 PORCN "Dermal Hypoplasias, Focal" MONDO_0010592 "Disgenet " 17655 GREM2 "tooth agenesis, selective, 9" MONDO:0014999 "ClinGen " 1766 CDH7 "Bipolar Disorders" MONDO_0004985 "Disgenet " 17663 PITRM1 "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30" MONDO_0030318 "Disgenet " 17675 XPO5 "Cancer, Breast" MONDO_0007254 "Disgenet " 17675 XPO5 "Multiple Myeloma" MONDO_0009693 "Disgenet " 17675 XPO5 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 17675 XPO5 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 17675 XPO5 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 17679 RANGRF Arrhythmia MONDO_0007263 "Disgenet " 17679 RANGRF "Brugada Syndrome" MONDO_0015263 "Disgenet " 17679 RANGRF "Brugada syndrome" MONDO:0015263 "ClinGen " 17686 RIC1 "Cleft palate with cleft lip" MONDO_0016044 "Disgenet " 17697 SARS2 "HUPRA SYNDROME" MONDO_0013458 "Disgenet " 17697 SARS2 "mitochondrial disease" MONDO:0044970 "ClinGen " 177 ACY1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 177 ACY1 "aminoacylase 1 deficiency" MONDO:0012368 "ClinGen " 177 ACY1 "AMINOACYLASE 1 DEFICIENCY" MONDO_0012368 "Disgenet " 1770 CDK10 "Global developmental delay" "Disgenet " 1771 CDK2 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 1771 CDK2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1771 CDK2 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 1771 CDK2 "Triple-Negative Breast Cancers" MONDO_0005494 "Disgenet " 1771 CDK2 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 1771 CDK2 Melanoma MONDO_0005105 "Disgenet " 1771 CDK2 "Glioblastoma multiforme" MONDO_0018177 "Disgenet " 17717 STK39 "High blood pressure" MONDO_0005044 "Disgenet " 17717 STK39 "Childhood autism" MONDO_0005260 "Disgenet " 17722 SPRED2 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 17722 SPRED2 "Noonan Syndrome" MONDO_0018997 "Disgenet " 1773 CDK4 Obesity MONDO_0019182 "Disgenet " 1773 CDK4 "Primary Glioblastoma" MONDO_0018177 "Disgenet " 1773 CDK4 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 1773 CDK4 "Liposarcoma, well differentiated" MONDO_0005103 "Disgenet " 1773 CDK4 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 1773 CDK4 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 1773 CDK4 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 1773 CDK4 "Malignant melanoma of skin" MONDO_0005012 "Disgenet " 1773 CDK4 Liposarcoma MONDO_0005060 "Disgenet " 1773 CDK4 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 1773 CDK4 "Triple-Negative Breast Cancers" MONDO_0005494 "Disgenet " 1773 CDK4 Melanoma MONDO_0005105 "Disgenet " 1773 CDK4 "Hereditary Cutaneous Melanoma" MONDO_0018961 "Disgenet " 1773 CDK4 "melanoma, cutaneous malignant, susceptibility to, 3" MONDO:0012183 "ClinGen " 1773 CDK4 "Multiple Myeloma" MONDO_0009693 "Disgenet " 1773 CDK4 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 1773 CDK4 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 1773 CDK4 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 1773 CDK4 Carcinoma MONDO_0004993 "Disgenet " 1773 CDK4 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 1773 CDK4 "Dedifferentiated Liposarcoma" MONDO_0005060 "Disgenet " 1773 CDK4 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1773 CDK4 Glioblastoma MONDO_0018177 "Disgenet " 1773 CDK4 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 1773 CDK4 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1773 CDK4 "Brain Neoplasms" MONDO_0021211 "Disgenet " 1773 CDK4 "Ewing's sarcoma" MONDO_0012817 "Disgenet " 1773 CDK4 "Pancreatic adenocarcinoma" MONDO_0006047 "Disgenet " 17732 SYNPO2 "OVARIAN CANCER, EPITHELIAL" MONDO_0018364 "Disgenet " 1774 CDK5 tauopathy MONDO_0005574 "Disgenet " 1774 CDK5 "Alzheimer Disease" MONDO_0012630 "Disgenet " 1774 CDK5 "lissencephaly with cerebellar hypoplasia" MONDO:0019450 "ClinGen " 1774 CDK5 Schizophrenias MONDO_0005090 "Disgenet " 1774 CDK5 "Cocaine dependence" MONDO_0005186 "Disgenet " 17748 DACT1 "Townes syndrome" MONDO_0007142 "Disgenet " 1775 CDK5R1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 17754 THSD1 ANIB12 MONDO_0032891 "Disgenet " 17754 THSD1 "Nonimmune hydrops" MONDO_0009369 "Disgenet " 17755 TNFRSF13C "IMMUNODEFICIENCY, COMMON VARIABLE, 4" MONDO_0013284 "Disgenet " 17755 TNFRSF13C "immunodeficiency, common variable, 4" MONDO:0013284 "ClinGen " 17755 TNFRSF13C "Common Variable Immunodeficiency" MONDO_0015517 "Disgenet " 17759 PDSS1 COQ10D2 MONDO_0013837 "Disgenet " 17760 TREM1 Schizophrenias MONDO_0005090 "Disgenet " 17760 TREM1 Sepsis MONDO_0005229 "Disgenet " 17760 TREM1 "Bacterial sepsis" MONDO_0005229 "Disgenet " 17761 TREM2 "Alzheimer Disease" MONDO_0012630 "Disgenet " 17761 TREM2 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 17761 TREM2 "Frontotemporal dementia" MONDO_0017276 "Disgenet " 17761 TREM2 NHD MONDO_0009092 "Disgenet " 17761 TREM2 "Frontotemporal dementia, behavioral variant" MONDO_0017160 "Disgenet " 17761 TREM2 "POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY" MONDO_0009092 "Disgenet " 17768 TDP2 "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23" MONDO_0014846 "Disgenet " 17768 TDP2 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 17768 TDP2 "Ataxia, Spinocerebellar" MONDO_0000437 "Disgenet " 1777 CDK6 "Melanoma metastatic" MONDO_0005191 "Disgenet " 1777 CDK6 "Triple-Negative Breast Cancers" MONDO_0005494 "Disgenet " 1777 CDK6 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 1777 CDK6 Medulloblastoma MONDO_0007959 "Disgenet " 1777 CDK6 MCPH12 MONDO_0014484 "Disgenet " 1777 CDK6 ALL MONDO_0004967 "Disgenet " 1777 CDK6 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 1777 CDK6 Anemia MONDO_0002280 "Disgenet " 1777 CDK6 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 1777 CDK6 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 1777 CDK6 Glioblastoma MONDO_0018177 "Disgenet " 1777 CDK6 Gliomas MONDO_0021042 "Disgenet " 17772 TXN2 COXPD29 MONDO_0014781 "Disgenet " 17792 VTI1A "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 17797 MAP3K20 SFMMP MONDO_0014816 "Disgenet " 17797 MAP3K20 CNM6 MONDO_0054695 "Disgenet " 17797 MAP3K20 "myopathy, centronuclear, 6, with fiber-type disproportion" MONDO:0054695 "ClinGen " 17820 NT5C3A "URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO" MONDO_0009946 "Disgenet " 1784 CDKN1A "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 1784 CDKN1A Papilloma MONDO_0002363 "Disgenet " 1784 CDKN1A "Intestinal Neoplasm" MONDO_0005814 "Disgenet " 1784 CDKN1A "Atrial Fibrillation" MONDO_0004981 "Disgenet " 1784 CDKN1A "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 1784 CDKN1A COPD MONDO_0005002 "Disgenet " 1784 CDKN1A "Glioma, malignant" MONDO_0100342 "Disgenet " 1784 CDKN1A "HIV infection" MONDO_0005109 "Disgenet " 1784 CDKN1A "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 1784 CDKN1A "Primary open-angle glaucoma" MONDO_0100553 "Disgenet " 1784 CDKN1A "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 1784 CDKN1A "Mesothelioma, malignant" MONDO_0006292 "Disgenet " 1784 CDKN1A "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1784 CDKN1A Gliomas MONDO_0021042 "Disgenet " 1784 CDKN1A "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 1784 CDKN1A "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 1784 CDKN1A "Lung Neoplasm" MONDO_0002732 "Disgenet " 1784 CDKN1A "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 1784 CDKN1A "Liver Neoplasm" MONDO_0002691 "Disgenet " 1784 CDKN1A "malignant squamous cell neoplasm of oral cavity (diagnosis)" MONDO_0004958 "Disgenet " 1785 CDKN1B "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 1785 CDKN1B "Lung Neoplasm" MONDO_0002732 "Disgenet " 1785 CDKN1B "Cancer, Ovarian" MONDO_0008170 "Disgenet " 1785 CDKN1B "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1785 CDKN1B "Neoplasm, Pituitary" MONDO_0002109 "Disgenet " 1785 CDKN1B "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 1785 CDKN1B "Primary hyperparathyroidism" MONDO_0010837 "Disgenet " 1785 CDKN1B "Cancer Syndrome, Hereditary" MONDO_0015356 "Disgenet " 1785 CDKN1B "Liver Neoplasm" MONDO_0002691 "Disgenet " 1785 CDKN1B "Neoplasm, Rectal" MONDO_0002165 "Disgenet " 1785 CDKN1B "MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV" MONDO_0012552 "Disgenet " 1785 CDKN1B "Hereditary prostate cancer" MONDO_0023122 "Disgenet " 1785 CDKN1B "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1785 CDKN1B "Breast Neoplasms" MONDO_0021100 "Disgenet " 1785 CDKN1B "Neuroendocrine Tumors" MONDO_0019496 "Disgenet " 1785 CDKN1B "Cancer, Breast" MONDO_0007254 "Disgenet " 1785 CDKN1B "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 1785 CDKN1B "Adenomatoses, Familial Endocrine" MONDO_0017169 "Disgenet " 1785 CDKN1B "hereditary nonpolyposis colon cancer" MONDO:0018630 "ClinGen " 1785 CDKN1B "multiple endocrine neoplasia type 4" MONDO:0012552 "ClinGen " 17859 NUP188 "sandestig-stefanova syndrome" MONDO:0032926 "ClinGen " 1786 CDKN1C "Beckwith Wiedemann Syndrome" MONDO_0013038 "Disgenet " 1786 CDKN1C "Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies" MONDO_0013873 "Disgenet " 1786 CDKN1C "Lung Neoplasm" MONDO_0002732 "Disgenet " 1786 CDKN1C Melanoma MONDO_0005105 "Disgenet " 1786 CDKN1C Hyperinsulinism MONDO_0002177 "Disgenet " 17861 TRAF3IP1 ciliopathy MONDO:0005308 "ClinGen " 17867 NPTN Schizophrenias MONDO_0005090 "Disgenet " 17868 BBC3 "Burkitt Lymphoma" MONDO_0007243 "Disgenet " 17869 AFF4 "CHOPS SYNDROME" MONDO_0014609 "Disgenet " 1787 CDKN2A "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 1787 CDKN2A Adenocarcinoma MONDO_0004970 "Disgenet " 1787 CDKN2A "Glioma, malignant" MONDO_0100342 "Disgenet " 1787 CDKN2A "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 1787 CDKN2A Lymphomas MONDO_0005062 "Disgenet " 1787 CDKN2A "Cancer, Ovarian" MONDO_0008170 "Disgenet " 1787 CDKN2A Mesothelioma MONDO_0005065 "Disgenet " 1787 CDKN2A "Renal cell carcinoma" MONDO_0005549 "Disgenet " 1787 CDKN2A "Familial Atypical Multiple Mole Melanoma" MONDO_0007964 "Disgenet " 1787 CDKN2A "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 1787 CDKN2A "Cancer, Squamous Cell" MONDO_0002532 "Disgenet " 1787 CDKN2A Neuroblastoma MONDO_0005072 "Disgenet " 1787 CDKN2A "Liver Neoplasm" MONDO_0002691 "Disgenet " 1787 CDKN2A FAMMMPC MONDO_0011713 "Disgenet " 1787 CDKN2A "Tumor, Nerve Sheath" MONDO_0002547 "Disgenet " 1787 CDKN2A "Multiple Myeloma" MONDO_0009693 "Disgenet " 1787 CDKN2A "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 1787 CDKN2A "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 1787 CDKN2A "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1787 CDKN2A "Pancreatic carcinoma" MONDO_0005192 "Disgenet " 1787 CDKN2A Melanoma MONDO_0005105 "Disgenet " 1787 CDKN2A "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 1787 CDKN2A Leukemias MONDO_0005059 "Disgenet " 1787 CDKN2A "Malignant melanoma of skin" MONDO_0005012 "Disgenet " 1787 CDKN2A ALL MONDO_0004967 "Disgenet " 1787 CDKN2A "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 1787 CDKN2A "Lung Neoplasm" MONDO_0002732 "Disgenet " 1787 CDKN2A "Breast Neoplasms" MONDO_0021100 "Disgenet " 1787 CDKN2A "Hereditary Cutaneous Melanoma" MONDO_0018961 "Disgenet " 1787 CDKN2A "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 1787 CDKN2A "CARCINOMA OF ESOPHAGUS" MONDO_0007576 "Disgenet " 1787 CDKN2A "adenocarcinoma of esophagus (diagnosis)" MONDO_0005028 "Disgenet " 1787 CDKN2A "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 1787 CDKN2A "Hereditary Pancreatic Carcinoma" MONDO_0015278 "Disgenet " 1787 CDKN2A "Adrenal cortical carcinoma" MONDO_0006639 "Disgenet " 1787 CDKN2A "Breast cancer (ductal)" MONDO_0004953 "Disgenet " 1787 CDKN2A "MELANOMA-ASTROCYTOMA SYNDROME" MONDO_0007967 "Disgenet " 1787 CDKN2A "Mouth Neoplasm" MONDO_0021245 "Disgenet " 1787 CDKN2A Retinoblastoma MONDO_0008380 "Disgenet " 1787 CDKN2A "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 1787 CDKN2A "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 1787 CDKN2A "Precursor T-cell lymphoblastic leukaemia" MONDO_0020512 "Disgenet " 1787 CDKN2A "Oral Cancer" MONDO_0023644 "Disgenet " 1787 CDKN2A "lymphoid neoplasm" MONDO_0005157 "Disgenet " 1787 CDKN2A "Brain Neoplasms" MONDO_0021211 "Disgenet " 1787 CDKN2A "Primary Glioblastoma" MONDO_0018177 "Disgenet " 1787 CDKN2A "Squamous cell carcinoma of skin" MONDO_0002529 "Disgenet " 1787 CDKN2A "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 1787 CDKN2A "Mesothelioma, malignant" MONDO_0006292 "Disgenet " 1787 CDKN2A "melanoma-pancreatic cancer syndrome" MONDO:0011713 "ClinGen " 1787 CDKN2A "Depressions, Unipolar" MONDO_0002050 "Disgenet " 1787 CDKN2A "Vulvae, Kraurosis" MONDO_0006491 "Disgenet " 1787 CDKN2A COPD MONDO_0005002 "Disgenet " 1787 CDKN2A "Biliary Tract Neoplasm" MONDO_0003060 "Disgenet " 1787 CDKN2A "Bladder transitional cell carcinoma" MONDO_0005611 "Disgenet " 1787 CDKN2A Thymoma MONDO_0006456 "Disgenet " 1787 CDKN2A "Carcinoma, Pancreas Duct-Cell" MONDO_0005184 "Disgenet " 1787 CDKN2A Glaucomas MONDO_0005041 "Disgenet " 1787 CDKN2A "Cancer Syndrome, Hereditary" MONDO_0015356 "Disgenet " 1787 CDKN2A "Cutaneous T Cell Lymphoma" MONDO_0015758 "Disgenet " 1787 CDKN2A "Depressive neurosis" MONDO_0002050 "Disgenet " 1787 CDKN2A Depression MONDO_0002050 "Disgenet " 1787 CDKN2A Neurilemmoma MONDO_0002546 "Disgenet " 1787 CDKN2A "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 1787 CDKN2A "Carcinomas, Infiltrating Duct" MONDO_0005590 "Disgenet " 1787 CDKN2A "Leukemia, T Cell" MONDO_0004963 "Disgenet " 1787 CDKN2A "Carcinoma in situ of cervix uteri" MONDO_0042487 "Disgenet " 1787 CDKN2A Gliomas MONDO_0021042 "Disgenet " 1787 CDKN2A "Pancreatic adenocarcinoma" MONDO_0006047 "Disgenet " 1787 CDKN2A "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 1787 CDKN2A "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1787 CDKN2A "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 1787 CDKN2A "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 1787 CDKN2A FAMMM MONDO_0018453 "Disgenet " 1787 CDKN2A "Cancer, Breast" MONDO_0007254 "Disgenet " 1787 CDKN2A "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 1787 CDKN2A carcinogenesis "Disgenet " 1787 CDKN2A Glioblastoma MONDO_0018177 "Disgenet " 1787 CDKN2A "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 1787 CDKN2A "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 1787 CDKN2A "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 17870 INVS "NEPHRONOPHTHISIS 2" MONDO_0011190 "Disgenet " 17870 INVS Nephronophthisis MONDO_0019005 "Disgenet " 17870 INVS "nephronophthisis 2" MONDO:0011190 "ClinGen " 17870 INVS Nephropathy MONDO_0005240 "Disgenet " 17877 NMNAT1 "Retinal dystrophy" MONDO_0019118 "Disgenet " 17877 NMNAT1 "Leber congenital amaurosis" MONDO_0018998 "Disgenet " 17877 NMNAT1 LCA9 MONDO_0012056 "Disgenet " 17877 NMNAT1 "NMNAT1-related retinopathy" MONDO:0800101 "ClinGen " 17877 NMNAT1 "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 1788 CDKN2B "Pigmentary glaucoma" MONDO_0005338 "Disgenet " 1788 CDKN2B "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 1788 CDKN2B "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 1788 CDKN2B "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 1788 CDKN2B "Liver Neoplasm" MONDO_0002691 "Disgenet " 1788 CDKN2B "Coronary Disease" MONDO_0005010 "Disgenet " 1788 CDKN2B "lymphoid neoplasm" MONDO_0005157 "Disgenet " 1788 CDKN2B "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 1788 CDKN2B "Glioma, malignant" MONDO_0100342 "Disgenet " 1788 CDKN2B Glaucomas MONDO_0005041 "Disgenet " 1788 CDKN2B "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 1788 CDKN2B Gliomas MONDO_0021042 "Disgenet " 1788 CDKN2B "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1788 CDKN2B "Cancer, Breast" MONDO_0007254 "Disgenet " 1788 CDKN2B "Chronic myelomonocytic leukemia" MONDO_0020311 "Disgenet " 1788 CDKN2B Lymphomas MONDO_0005062 "Disgenet " 1788 CDKN2B "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 1788 CDKN2B "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 1788 CDKN2B "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 17880 LMTK2 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 17880 LMTK2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1789 CDKN2C "Cancer, Breast" MONDO_0007254 "Disgenet " 1789 CDKN2C "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1789 CDKN2C "Multiple Myeloma" MONDO_0009693 "Disgenet " 17890 HPGDS Schizophrenias MONDO_0005090 "Disgenet " 17890 HPGDS TGCT MONDO_0010108 "Disgenet " 17890 HPGDS "Diseases, Liver" MONDO_0005154 "Disgenet " 17890 HPGDS Psychosis MONDO_0005485 "Disgenet " 17890 HPGDS "Bipolar Disorders" MONDO_0004985 "Disgenet " 17893 PGAP2 "Hyperphosphatasia with Mental Retardation" MONDO_0016596 "Disgenet " 17893 PGAP2 MRT17 MONDO_0013628 "Disgenet " 17897 UTP20 "Cancer, Breast" MONDO_0007254 "Disgenet " 17904 DROSHA Nephroblastoma MONDO_0019004 "Disgenet " 17904 DROSHA "Childhood Renal Wilms' Tumor" MONDO_0024676 "Disgenet " 1791 CDKN3 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 17938 CALY Schizophrenias MONDO_0005090 "Disgenet " 17939 SLC45A1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 17944 EXOSC3 "Pontocerebellar Hypoplasia Type 1" MONDO_0011866 "Disgenet " 17944 EXOSC3 "PONTOCEREBELLAR HYPOPLASIA, TYPE 1B" MONDO_0013853 "Disgenet " 17944 EXOSC3 "PCH1 - pontocerebellar hypoplasia type 1" MONDO_0016396 "Disgenet " 17944 EXOSC3 "Pontocerebellar hypoplasia" MONDO_0020135 "Disgenet " 1795 CDO1 CRC MONDO_0005335 "Disgenet " 17955 LAMTOR5 "Breast Neoplasms" MONDO_0021100 "Disgenet " 17966 CEP83 "NEPHRONOPHTHISIS 18" MONDO_0014374 "Disgenet " 17966 CEP83 "NEPHRONOPHTHISIS 2" MONDO_0011190 "Disgenet " 17972 NRN1 Schizophrenias MONDO_0005090 "Disgenet " 17975 REEP2 "SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE" MONDO_0014282 "Disgenet " 17978 B3GALT6 "AL-GAZALI SYNDROME" MONDO_0012282 "Disgenet " 17978 B3GALT6 EDSSPD2 MONDO_0007526 "Disgenet " 17978 B3GALT6 SEMDJL MONDO_0019675 "Disgenet " 17978 B3GALT6 SEMDJL1 MONDO_0010075 "Disgenet " 17978 B3GALT6 "B3GALT6-congenital disorder of glycosylation" MONDO:0100586 "ClinGen " 17985 ROBO4 "Bicuspid aortic valve" MONDO_0007194 "Disgenet " 17985 ROBO4 "Aortic Aneurysm, Thoracic" MONDO_0005396 "Disgenet " 17985 ROBO4 AOVD3 MONDO_0032783 "Disgenet " 17992 TRPM3 "syndromic complex neurodevelopmental disorder" MONDO:0800439 "ClinGen " 17992 TRPM3 "Global developmental delay" "Disgenet " 17992 TRPM3 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 17992 TRPM3 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 17993 TRPM4 "Brugada syndrome" MONDO:0015263 "ClinGen " 17993 TRPM4 "Brugada Syndrome" MONDO_0015263 "Disgenet " 17993 TRPM4 PCCD MONDO_0019490 "Disgenet " 17993 TRPM4 PFHB1B MONDO_0011474 "Disgenet " 17993 TRPM4 EKVP6 MONDO_0032801 "Disgenet " 17993 TRPM4 "Conduction disorders" MONDO_0100042 "Disgenet " 17993 TRPM4 "Erythrokeratodermia variabilis" MONDO_0017851 "Disgenet " 17993 TRPM4 "Long QT Syndrome" MONDO_0002442 "Disgenet " 17993 TRPM4 Cardiomyopathy MONDO_0004994 "Disgenet " 17993 TRPM4 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 17994 TRPM7 "macrothrombocytopenia, isolated" MONDO:0031447 "ClinGen " 17994 TRPM7 HOMG1 MONDO_0018100 "Disgenet " 17994 TRPM7 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 17996 NAGS "hyperammonemia due to N-acetylglutamate synthase deficiency" MONDO:0009377 "ClinGen " 17996 NAGS HYPERAMMONEMIA "Disgenet " 17996 NAGS "N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY" MONDO_0009377 "Disgenet " 17997 FKRP LGMD2I MONDO_0011787 "Disgenet " 17997 FKRP "limb girdle muscular dystrophy" MONDO_0016971 "Disgenet " 17997 FKRP "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 17997 FKRP "Walker-Warburg congenital muscular dystrophy" MONDO_0000171 "Disgenet " 17997 FKRP "Limb-girdle muscular dystrophy autosomal recessive" MONDO_0015152 "Disgenet " 17997 FKRP FCMD MONDO_0000171 "Disgenet " 17997 FKRP Myopathy MONDO_0003939 "Disgenet " 17997 FKRP "Muscle-Eye-Brain Disease" MONDO_0000171 "Disgenet " 17997 FKRP "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5" MONDO_0013157 "Disgenet " 17997 FKRP "myopathy caused by variation in FKRP" MONDO:0700066 "ClinGen " 17997 FKRP LGMD2K MONDO_0012248 "Disgenet " 17997 FKRP "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 17997 FKRP MDC1C MONDO_0011688 "Disgenet " 17997 FKRP alpha-Dystroglycanopathies MONDO_0000171 "Disgenet " 18001 TOMM40 "Alzheimer Disease" MONDO_0012630 "Disgenet " 18005 GIMAP5 "Hypertension, Portal" MONDO_0005080 "Disgenet " 18006 NISCH "Breast Neoplasms" MONDO_0021100 "Disgenet " 18008 NXN "Robinow Syndrome" MONDO_0019978 "Disgenet " 18010 GDAP2 "spinocerebellar ataxia, autosomal recessive 27" MONDO:0032706 "ClinGen " 18016 NUP133 "nephrotic syndrome, type 18" MONDO:0032581 "ClinGen " 18016 NUP133 "NEPHROTIC SYNDROME, TYPE 18" MONDO_0032581 "Disgenet " 18016 NUP133 "Microcephaly nephrosis syndrome" MONDO_0009627 "Disgenet " 18019 ZFAND3 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 1802 CDSN "Inflammatory peeling skin syndrome" MONDO_0024548 "Disgenet " 1802 CDSN Alopecias MONDO_0004907 "Disgenet " 1802 CDSN HTSS1 MONDO_0019575 "Disgenet " 1802 CDSN "PEELING SKIN SYNDROME" MONDO_0019347 "Disgenet " 18021 TMC6 "Disease, Lewandowsky-Lutz" MONDO_0009176 "Disgenet " 18025 COA6 CEMCOX4 MONDO_0014668 "Disgenet " 18028 OSGEP "Microcephaly nephrosis syndrome" MONDO_0009627 "Disgenet " 18028 OSGEP "GALLOWAY-MOWAT SYNDROME 3" MONDO_0033007 "Disgenet " 18028 OSGEP "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 18037 ARID2 "Coffin-Siris syndrome" MONDO:0015452 "ClinGen " 18037 ARID2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 18037 ARID2 "Coffin-Siris syndrome" MONDO_0015452 "Disgenet " 18037 ARID2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 18037 ARID2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 18039 KDM5B Gliomas MONDO_0021042 "Disgenet " 18039 KDM5B "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 18039 KDM5B "Child Development Disorder" MONDO_0005287 "Disgenet " 18039 KDM5B "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 18039 KDM5B "intellectual disability" MONDO:0001071 "ClinGen " 18039 KDM5B "Cancer, Breast" MONDO_0007254 "Disgenet " 18040 ARID1B "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 18040 ARID1B "Cancer, Breast" MONDO_0007254 "Disgenet " 18040 ARID1B "Global developmental delay" "Disgenet " 18040 ARID1B "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 18040 ARID1B "Unspecified mental retardation" MONDO_0001071 "Disgenet " 18040 ARID1B Neuroblastoma MONDO_0005072 "Disgenet " 18040 ARID1B "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 18040 ARID1B "Coffin-Siris syndrome" MONDO_0015452 "Disgenet " 18040 ARID1B "Coffin-Siris syndrome" MONDO:0015452 "ClinGen " 18040 ARID1B "Child Development Disorder" MONDO_0005287 "Disgenet " 18040 ARID1B Epilepsies MONDO_0005027 "Disgenet " 18040 ARID1B "Absent corpus callosum" MONDO_0009022 "Disgenet " 18040 ARID1B "NICOLAIDES-BARAITSER SYNDROME" MONDO_0011053 "Disgenet " 18040 ARID1B "Liver cell carcinoma" MONDO_0007256 "Disgenet " 18040 ARID1B "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 18043 MCM10 "immunodeficiency 80 with or without congenital cardiomyopathy" MONDO:0030266 "ClinGen " 18043 MCM10 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 18044 SLC38A3 "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102" MONDO_0030881 "Disgenet " 18049 ACSM1 Schizophrenias MONDO_0005090 "Disgenet " 18062 GPT2 NEDSPM MONDO_0014567 "Disgenet " 18062 GPT2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 18062 GPT2 "glutamate pyruvate transaminase 2 deficiency" MONDO:0014567 "ClinGen " 18071 EMSY "Atopic Eczema" MONDO_0011292 "Disgenet " 18071 EMSY "Breast Neoplasms" MONDO_0021100 "Disgenet " 18078 ZBTB7A "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 18078 ZBTB7A "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 18083 TRPV4 "Skeletal dysplasia" MONDO_0018230 "Disgenet " 18083 TRPV4 "BRACHYOLMIA TYPE 3" MONDO_0007232 "Disgenet " 18083 TRPV4 "PARASTREMMATIC DWARFISM" MONDO_0008196 "Disgenet " 18083 TRPV4 "DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL" MONDO_0011732 "Disgenet " 18083 TRPV4 "neuromuscular disease" MONDO:0019056 "ClinGen " 18083 TRPV4 "TRPV4-related bone disorder" MONDO:0018240 "ClinGen " 18083 TRPV4 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 18083 TRPV4 "Spinal Muscular Atrophy, Congenital Benign, with Contractures" MONDO_0010839 "Disgenet " 18083 TRPV4 "SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE" MONDO_0008473 "Disgenet " 18083 TRPV4 "SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE" MONDO_0008477 "Disgenet " 18083 TRPV4 SPSMA MONDO_0010058 "Disgenet " 18083 TRPV4 "HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC" MONDO_0011633 "Disgenet " 18083 TRPV4 COPD MONDO_0005002 "Disgenet " 18083 TRPV4 "Distal spinal muscular atrophy" MONDO_0001516 "Disgenet " 18083 TRPV4 "METATROPIC DYSPLASIA" MONDO_0007986 "Disgenet " 18083 TRPV4 Osteochondrodysplasia MONDO_0005516 "Disgenet " 18083 TRPV4 HMSN MONDO_0012250 "Disgenet " 18083 TRPV4 "Atrophy, Spinal Muscular" MONDO_0001516 "Disgenet " 18083 TRPV4 "Neuromuscular Disease" MONDO_0019056 "Disgenet " 18084 TRPV3 "Olmstead syndrome" MONDO_0031421 "Disgenet " 18084 TRPV3 OLMS1 MONDO_0031421 "Disgenet " 18084 TRPV3 "PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2" MONDO_0014622 "Disgenet " 18085 TMEM199 "CDG IIp" MONDO_0014790 "Disgenet " 18111 CCDC50 "Centrocytic Small-Cell Lymphoma" MONDO_0018876 "Disgenet " 18111 CCDC50 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 18116 KHDRBS1 "Primary ovarian failure" MONDO_0005387 "Disgenet " 18119 AFG2A "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 18119 AFG2A EHLMRS MONDO_0014698 "Disgenet " 18119 AFG2A "syndromic complex neurodevelopmental disorder" MONDO:0800439 "ClinGen " 18122 SOX17 "Pulmonary arterial hypertension" MONDO_0015924 "Disgenet " 18122 SOX17 "pulmonary arterial hypertension" MONDO:0015924 "ClinGen " 18122 SOX17 "Aneurysms, Intracranial" MONDO_0005291 "Disgenet " 18122 SOX17 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 18122 SOX17 "Familial primary pulmonary hypertension" MONDO_0001999 "Disgenet " 18124 P2RY12 "platelet-type bleeding disorder 8" MONDO:0012354 "ClinGen " 18124 P2RY12 "platelet-type bleeding disorder 8" MONDO:0012354 "ClinGen " 18124 P2RY12 "Cerebrovascular Disorders" MONDO_0011057 "Disgenet " 18124 P2RY12 Thrombocytopenia MONDO_0002049 "Disgenet " 18124 P2RY12 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 18124 P2RY12 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 18124 P2RY12 Asthma MONDO_0004979 "Disgenet " 18124 P2RY12 "Peripheral Arterial Diseases" MONDO_0005386 "Disgenet " 18124 P2RY12 BDPLT8 MONDO_0012354 "Disgenet " 18126 ZNRF3 "Adrenal cortical carcinoma" MONDO_0006639 "Disgenet " 18127 TUBGCP6 "microcephaly and chorioretinopathy 1" MONDO:0009624 "ClinGen " 18127 TUBGCP6 "MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1" MONDO_0009624 "Disgenet " 18129 GHRL "Diabetic Neuropathies" MONDO_0006626 "Disgenet " 18129 GHRL "Congestive heart failure" MONDO_0005252 "Disgenet " 18129 GHRL "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 18129 GHRL Adenocarcinoma MONDO_0004970 "Disgenet " 18129 GHRL "adenocarcinoma of esophagus (diagnosis)" MONDO_0005028 "Disgenet " 18129 GHRL "Morbid Obesities" MONDO_0005139 "Disgenet " 18129 GHRL "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 18129 GHRL Obesity MONDO_0019182 "Disgenet " 18129 GHRL Depression MONDO_0002050 "Disgenet " 18129 GHRL "Heart failure" MONDO_0005252 "Disgenet " 18129 GHRL "Gastric ulcer" MONDO_0001126 "Disgenet " 18129 GHRL "Ulcerative colitis" MONDO_0005101 "Disgenet " 18129 GHRL "drink heavy" "Disgenet " 18129 GHRL Colitides MONDO_0005534 "Disgenet " 18129 GHRL "Damage, Reperfusion" MONDO_0005203 "Disgenet " 1814 CEACAM1 Adenocarcinoma MONDO_0004970 "Disgenet " 1814 CEACAM1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 18141 DCDC2 DFNB66 MONDO_0012442 "Disgenet " 18141 DCDC2 "Reading disorder" MONDO_0005489 "Disgenet " 18141 DCDC2 Ciliopathies MONDO_0005308 "Disgenet " 18141 DCDC2 "Cholangiitides, Sclerosing" MONDO_0018646 "Disgenet " 18141 DCDC2 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 18141 DCDC2 ciliopathy MONDO:0005308 "ClinGen " 18143 DAAM2 "idiopathic multidrug-resistant nephrotic syndrome" MONDO:0035459 "ClinGen " 18145 PHF6 "Borjeson-Forssman-Lehmann syndrome" MONDO:0010537 "ClinGen " 18145 PHF6 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 18145 PHF6 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 18145 PHF6 BFLS MONDO_0010537 "Disgenet " 18149 A4GALT "Burkitt Lymphoma" MONDO_0007243 "Disgenet " 18149 A4GALT "A4GALT-congenital disorder of glycosylation" MONDO:0100587 "ClinGen " 18150 MYO18B "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome" MONDO:0014689 "ClinGen " 18150 MYO18B "Lung Neoplasm" MONDO_0002732 "Disgenet " 18150 MYO18B "Dystrophia Brevicollis Congenitas" MONDO_0001029 "Disgenet " 18150 MYO18B "Myopathies, Nemaline" MONDO_0018958 "Disgenet " 18150 MYO18B "KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM" MONDO_0014689 "Disgenet " 18152 TNFRSF12A "Acute kidney injury" MONDO_0002492 "Disgenet " 18152 TNFRSF12A "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 18153 TNFRSF13B "Common Variable Immunodeficiency" MONDO_0015517 "Disgenet " 18153 TNFRSF13B "immunodeficiency, common variable, 2" MONDO:0009413 "ClinGen " 18153 TNFRSF13B "Interstitial lung disease" MONDO_0015925 "Disgenet " 18153 TNFRSF13B "Multiple Myeloma" MONDO_0009693 "Disgenet " 18153 TNFRSF13B "IMMUNODEFICIENCY, COMMON VARIABLE, 2" MONDO_0009413 "Disgenet " 18154 RNF115 "Breast Neoplasms" MONDO_0021100 "Disgenet " 18155 TXNRD2 "Familial Glucocorticoid Deficiency" MONDO_0008733 "Disgenet " 18155 TXNRD2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 18155 TXNRD2 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 18169 FKBP10 "BRUCK SYNDROME 1" MONDO_0017195 "Disgenet " 18169 FKBP10 "OSTEOGENESIS IMPERFECTA, TYPE III" MONDO_0009804 "Disgenet " 18169 FKBP10 "bruck syndrome" MONDO_0017195 "Disgenet " 18169 FKBP10 "Osteogenesis Imperfecta" MONDO_0012591 "Disgenet " 18173 ERAP1 "CARCINOMA OF CERVIX" MONDO_0005131 "Disgenet " 18173 ERAP1 "High blood pressure" MONDO_0005044 "Disgenet " 18173 ERAP1 "Ankylosing spondylitis" MONDO_0005306 "Disgenet " 18173 ERAP1 Psoriases MONDO_0005083 "Disgenet " 18173 ERAP1 "Behcet Syndrome" MONDO_0007191 "Disgenet " 18179 VPS33A "MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME" MONDO_0015012 "Disgenet " 18179 VPS33A "mucopolysaccharidosis-plus syndrome" MONDO:0015012 "ClinGen " 18188 TMCO1 "Cerebrofaciothoracic Dysplasia" MONDO_0800436 "Disgenet " 18188 TMCO1 "CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1" MONDO_0031329 "Disgenet " 18188 TMCO1 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 18196 SOX7 "congenital heart disease" MONDO:0005453 "ClinGen " 18219 CD248 CRC MONDO_0005335 "Disgenet " 18222 RBFOX1 "Epilepsies, Rolandic" MONDO_0007295 "Disgenet " 18222 RBFOX1 "Generalized idiopathic epilepsy and epileptic syndromes" MONDO_0005579 "Disgenet " 18222 RBFOX1 "Global developmental delay" "Disgenet " 18222 RBFOX1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 18222 RBFOX1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 18222 RBFOX1 "Childhood autism" MONDO_0005260 "Disgenet " 18222 RBFOX1 Schizophrenias MONDO_0005090 "Disgenet " 18229 RASD2 Schizophrenias MONDO_0005090 "Disgenet " 18233 BANK1 "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 18233 BANK1 "Progressive systemic sclerosis" MONDO_0005019 "Disgenet " 18233 BANK1 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 18233 BANK1 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 18233 BANK1 Psoriases MONDO_0005083 "Disgenet " 18234 MOCOS "xanthinuria type II" MONDO:0011346 "ClinGen " 18234 MOCOS "XANTHINURIA, TYPE II" MONDO_0011346 "Disgenet " 18234 MOCOS "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 18243 RCBTB1 "Familial exudative vitreoretinopathy" MONDO_0019516 "Disgenet " 18243 RCBTB1 "RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES" MONDO_0014955 "Disgenet " 18243 RCBTB1 "RCBTB1-related retinopathy" MONDO:0014955 "ClinGen " 18248 ELP2 MRT58 MONDO_0014996 "Disgenet " 18249 KCTD1 "SCALP-EAR-NIPPLE SYNDROME" MONDO_0008404 "Disgenet " 18253 PARL Hyperinsulinism MONDO_0002177 "Disgenet " 18253 PARL "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 18253 PARL "Leber's optic atrophy" MONDO_0010788 "Disgenet " 18264 ATP6V1C2 "Renal Tubular Acidosis, Type I" MONDO_0015827 "Disgenet " 18270 HHAT "Nivelon Nivelon Mabille syndrome" MONDO_0010814 "Disgenet " 18271 ENAH "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 18274 CYSLTR2 Asthma MONDO_0004979 "Disgenet " 18274 CYSLTR2 "MELANOMA, UVEAL" MONDO_0006486 "Disgenet " 18276 SEC61A1 "SEC61A1 deficiency" MONDO:0100337 "ClinGen " 18276 SEC61A1 "Infantile genetic agranulocytosis" MONDO_0018542 "Disgenet " 18294 ALG1 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik" MONDO_0012052 "Disgenet " 18294 ALG1 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 18294 ALG1 "ALG1-congenital disorder of glycosylation" MONDO:0012052 "ClinGen " 18304 COTL1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 18305 ATP6AP2 MRXSH MONDO_0010319 "Disgenet " 18305 ATP6AP2 "PARKINSONISM WITH SPASTICITY, X-LINKED" MONDO_0010482 "Disgenet " 18305 ATP6AP2 "ATP6AP2-related disorder" MONDO:0100146 "ClinGen " 18308 TMLHE "autism spectrum disorder" MONDO:0005258 "ClinGen " 18308 TMLHE "Childhood autism" MONDO_0005260 "Disgenet " 18316 ZNF366 "Breast Neoplasms" MONDO_0021100 "Disgenet " 18318 ASXL1 "Subacute myeloid leukemia" MONDO_0004653 "Disgenet " 18318 ASXL1 "Developmental delay" "Disgenet " 18318 ASXL1 "Aggressive Systemic Mastocytoses" MONDO_0020333 "Disgenet " 18318 ASXL1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 18318 ASXL1 "Childhood Renal Wilms' Tumor" MONDO_0024676 "Disgenet " 18318 ASXL1 Myelodysplasia "Disgenet " 18318 ASXL1 Nephroblastoma MONDO_0019004 "Disgenet " 18318 ASXL1 "Global developmental delay" "Disgenet " 18318 ASXL1 "Severe mental retardation" MONDO_0010402 "Disgenet " 18318 ASXL1 "systemic mastocytosis with associated clonal hematologic non-mast cell lineage disease (diagnosis)" MONDO_0020332 "Disgenet " 18318 ASXL1 Myelofibrosis MONDO_0009692 "Disgenet " 18318 ASXL1 "Myelosclerosis with myeloid metaplasia" MONDO_0800305 "Disgenet " 18318 ASXL1 "Chronic myelomonocytic leukemia" MONDO_0020311 "Disgenet " 18318 ASXL1 JMML MONDO_0011908 "Disgenet " 18318 ASXL1 "Bohring-Opitz syndrome" MONDO:0011510 "ClinGen " 18318 ASXL1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 18318 ASXL1 "Bohring syndrome" MONDO_0011510 "Disgenet " 18318 ASXL1 "Dysmyelopoietic Syndrome" MONDO_0018881 "Disgenet " 18319 PRIMA1 epilepsy MONDO:0005027 "ClinGen " 18324 HSD3B7 "congenital bile acid synthesis defect 1" MONDO:0011906 "ClinGen " 18324 HSD3B7 "BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1" MONDO_0018841 "Disgenet " 18324 HSD3B7 "Bile Duct Obstructions" MONDO_0001751 "Disgenet " 1833 CEBPA "acute myeloid leukemia" MONDO:0018874 "ClinGen " 1833 CEBPA "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 1833 CEBPA "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 1833 CEBPA "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 1833 CEBPA "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 1833 CEBPA Obesity MONDO_0019182 "Disgenet " 1833 CEBPA "Liver cell carcinoma" MONDO_0007256 "Disgenet " 18337 PADI3 "Spun-glass hair" MONDO_0008621 "Disgenet " 18337 PADI3 "central centrifugal scarring alopecia" MONDO_0022113 "Disgenet " 1834 CEBPB "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 1834 CEBPB "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 1834 CEBPB Adenocarcinoma MONDO_0004970 "Disgenet " 1834 CEBPB "Liver cell carcinoma" MONDO_0007256 "Disgenet " 18340 WDR19 CED1 MONDO_0009032 "Disgenet " 18340 WDR19 "Mainzer-Saldino Disease" MONDO_0009964 "Disgenet " 18340 WDR19 NPHP13 MONDO_0013718 "Disgenet " 18340 WDR19 "Cranioectodermal dysplasia" MONDO_0009032 "Disgenet " 18340 WDR19 CED4 MONDO_0013719 "Disgenet " 18340 WDR19 "Caroli Syndrome" MONDO_0010913 "Disgenet " 18340 WDR19 ciliopathy MONDO:0005308 "ClinGen " 18340 WDR19 ATD5 MONDO_0013717 "Disgenet " 18340 WDR19 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 18340 WDR19 "Renal dysplasia and retinal aplasia (disorder)" MONDO_0017842 "Disgenet " 18340 WDR19 Ciliopathies MONDO_0005308 "Disgenet " 18340 WDR19 "Asphyxiating thoracic dystrophy" MONDO_0018770 "Disgenet " 18341 PADI2 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 18345 TENT5A OI18 MONDO_0044329 "Disgenet " 18348 TICAM1 "Herpes encephalitis" MONDO_0012521 "Disgenet " 1835 CEBPD "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 1835 CEBPD "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1835 CEBPD "Pituitary Adenoma, PRL-Secreting" MONDO_0010911 "Disgenet " 18352 CENPM "Liver cell carcinoma" MONDO_0007256 "Disgenet " 18365 IFNL3 Thrombocytopenia MONDO_0002049 "Disgenet " 18365 IFNL3 Asthma MONDO_0004979 "Disgenet " 18365 IFNL3 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 18365 IFNL3 "Hepatitis C" MONDO_0005231 "Disgenet " 18374 HPSE2 UFS MONDO_0000463 "Disgenet " 1839 ADA2 "Sneddon Champion Syndrome" MONDO_0008436 "Disgenet " 1839 ADA2 "Polyarteritis Nodosa" MONDO_0018596 "Disgenet " 1839 ADA2 "deficiency of adenosine deaminase 2" MONDO:0100317 "ClinGen " 1839 ADA2 "Adenosine Deaminase 2 Deficiency" MONDO_0100317 "Disgenet " 1839 ADA2 "Autoinflammatory disease" MONDO_0019751 "Disgenet " 18410 ZNF292 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 18410 ZNF292 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 18410 ZNF292 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 18413 ZDHHC13 Alopecias MONDO_0004907 "Disgenet " 18413 ZDHHC13 Osteoporoses MONDO_0005298 "Disgenet " 18413 ZDHHC13 Amyloidoses MONDO_0019065 "Disgenet " 18414 UCN2 "Congestive heart failure" MONDO_0005252 "Disgenet " 18414 UCN2 "Heart failure" MONDO_0005252 "Disgenet " 18414 UCN2 "High blood pressure" MONDO_0005044 "Disgenet " 18415 HIP1R "Bipolar Disorders" MONDO_0004985 "Disgenet " 18423 DEPDC5 "EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1" MONDO_0024556 "Disgenet " 18423 DEPDC5 "Autosomal dominant nocturnal frontal lobe epilepsy (disorder)" MONDO_0020300 "Disgenet " 18423 DEPDC5 "focal epilepsy" MONDO:0005384 "ClinGen " 18423 DEPDC5 Epilepsies MONDO_0005027 "Disgenet " 18423 DEPDC5 "Epilepsy, Partial, with Variable Foci" MONDO_0020310 "Disgenet " 18423 DEPDC5 "Epilepsies, Focal" MONDO_0005384 "Disgenet " 18423 DEPDC5 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 18437 HAVCR2 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 18437 HAVCR2 "Subcutaneous Panniculitis-Like T-Cell Lymphoma (Alpha/Beta Type)" MONDO_0019475 "Disgenet " 18437 HAVCR2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 18437 HAVCR2 "Haemophagocytic lymphohistiocytosis" MONDO_0015540 "Disgenet " 18448 NEIL1 "Syndrome X, Reaven" MONDO_0011565 "Disgenet " 18451 MCFD2 "FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF" MONDO_0018175 "Disgenet " 18451 MCFD2 "FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2" MONDO_0013331 "Disgenet " 18451 MCFD2 "factor 5 and Factor VIII, combined deficiency of, 2" MONDO:0013331 "ClinGen " 18453 NAXE "Leigh syndrome" MONDO:0009723 "ClinGen " 18453 NAXE "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY" MONDO_0014960 "Disgenet " 18455 PROK2 Panhypopituitarism MONDO_0019591 "Disgenet " 18455 PROK2 "hypogonadotropic hypogonadism 4 with or without anosmia" MONDO:0012528 "ClinGen " 18455 PROK2 HH4 MONDO_0012528 "Disgenet " 18455 PROK2 Hypopituitarism MONDO_0013961 "Disgenet " 18455 PROK2 "Hypogonadotropic hypogonadism" MONDO_0014102 "Disgenet " 18455 PROK2 "Syndrome, Kallmann's" MONDO_0013961 "Disgenet " 18455 PROK2 "Normosmic congenital hypogonadotropic hypogonadism" MONDO_0018555 "Disgenet " 18455 PROK2 "Affective Disorders" MONDO_0005371 "Disgenet " 18455 PROK2 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 18455 PROK2 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 18466 RNASEH1 "Leigh syndrome" MONDO:0009723 "ClinGen " 18466 RNASEH1 "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2" MONDO_0014656 "Disgenet " 18469 ZDHHC2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 18474 ZDHHC8 Schizophrenias MONDO_0005090 "Disgenet " 18475 ZDHHC9 MRXSR MONDO_0010427 "Disgenet " 18475 ZDHHC9 "syndromic X-linked intellectual disability Raymond type" MONDO:0010427 "ClinGen " 18475 ZDHHC9 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 1848 CEL "Chronic renal disease" MONDO_0005300 "Disgenet " 1848 CEL "Diabetes Mellitus" MONDO_0005015 "Disgenet " 1848 CEL "Maturity onset diabetes mellitus in young" MONDO_0018911 "Disgenet " 1848 CEL "Chronic pancreatitis" MONDO_0005003 "Disgenet " 1848 CEL MODY8 MONDO_0012348 "Disgenet " 1848 CEL "Chronic gastritis, unspecified" MONDO_0005001 "Disgenet " 1848 CEL Thyroiditides MONDO_0004126 "Disgenet " 1848 CEL Gastritides MONDO_0004966 "Disgenet " 1848 CEL Glomerulonephritides MONDO_0002462 "Disgenet " 1848 CEL "Monogenic diabetes" MONDO_0015967 "Disgenet " 1848 CEL "maturity-onset diabetes of the young type 8" MONDO:0012348 "ClinGen " 1848 CEL "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 1848 CEL "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 18481 ATP6V0A2 "autosomal recessive cutis laxa type 2A" MONDO:0018163 "ClinGen " 18481 ATP6V0A2 "WRINKLY SKIN SYNDROME" MONDO_0010208 "Disgenet " 18481 ATP6V0A2 "CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA" MONDO_0018163 "Disgenet " 18481 ATP6V0A2 "Cutis Laxa" MONDO_0007411 "Disgenet " 18483 LIPH Hypotrichoses MONDO_0003037 "Disgenet " 18483 LIPH "Hypotrichosis simplex" MONDO_0018914 "Disgenet " 18483 LIPH AH MONDO_0011452 "Disgenet " 18505 RNF43 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 18505 RNF43 "carcinoma of stomach (diagnosis)" MONDO_0004950 "Disgenet " 18505 RNF43 Endometrium MONDO_0011962 "Disgenet " 18505 RNF43 Cholangiocarcinoma MONDO_0019087 "Disgenet " 18505 RNF43 "Serrated polyposis" MONDO_0015524 "Disgenet " 18505 RNF43 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 18505 RNF43 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 18505 RNF43 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 18505 RNF43 "sessile serrated polyposis cancer syndrome" MONDO:0014919 "ClinGen " 18517 VASN "Liver cell carcinoma" MONDO_0007256 "Disgenet " 18518 RNASEH2A "RNASEH2A-related type 1 interferonopathy" MONDO:0700259 "ClinGen " 18518 RNASEH2A "AICARDI-GOUTIERES SYNDROME 4" MONDO_0012472 "Disgenet " 18518 RNASEH2A "Aicardi-Goutieres syndrome" MONDO_0018866 "Disgenet " 18525 CYS1 "Polycystic Kidney, Autosomal Recessive" MONDO_0009889 "Disgenet " 18525 CYS1 "polycystic kidney disease" MONDO:0020642 "ClinGen " 18525 CYS1 "Polycystic kidney" MONDO_0020642 "Disgenet " 18533 USP48 "Pituitary-dependent Cushing's disease" MONDO_0020528 "Disgenet " 18538 NUSAP1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 18538 NUSAP1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 18539 STX1B "epileptic encephalopathy" "Disgenet " 18539 STX1B "generalized epilepsy with febrile seizures plus" MONDO:0018214 "ClinGen " 18539 STX1B "GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9" MONDO_0014517 "Disgenet " 18539 STX1B Epilepsies MONDO_0005027 "Disgenet " 18539 STX1B "Generalized Epilepsy with Febrile Seizures Plus" MONDO_0018214 "Disgenet " 18539 STX1B "Febrile convulsion" "Disgenet " 18540 CPT1C SPG73 MONDO_0014568 "Disgenet " 18540 CPT1C "hereditary spastic paraplegia" MONDO:0019064 "ClinGen " 18540 CPT1C "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 18541 KMT2E "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 18541 KMT2E "Myeloid Leukemias" MONDO_0004643 "Disgenet " 18541 KMT2E Leukemias MONDO_0005059 "Disgenet " 18541 KMT2E "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 18541 KMT2E "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 18541 KMT2E "Global developmental delay" "Disgenet " 18547 CDC42SE2 Schizophrenias MONDO_0005090 "Disgenet " 18550 IER3IP1 "MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 1" MONDO_0100328 "Disgenet " 1856 CENPE MCPH13 MONDO_0014473 "Disgenet " 1856 CENPE "Seckel syndrome" MONDO_0019342 "Disgenet " 1856 CENPE "Liver cell carcinoma" MONDO_0007256 "Disgenet " 1856 CENPE "autosomal recessive primary microcephaly" MONDO:0016660 "ClinGen " 18561 BLOC1S5 "Hermansky-Pudlak syndrome 11" MONDO:0030903 "ClinGen " 18561 BLOC1S5 "Hermanski Pudlak Syndrome" MONDO_0019312 "Disgenet " 18561 BLOC1S5 "HERMANSKY-PUDLAK SYNDROME 11" MONDO_0030903 "Disgenet " 18576 CCNO "primary ciliary dyskinesia 29" MONDO:0014378 "ClinGen " 18576 CCNO "CILIARY DYSKINESIA, PRIMARY, 29, WITHOUT SITUS INVERSUS" MONDO_0014378 "Disgenet " 18576 CCNO "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 1859 CEP250 "Usher syndrome" MONDO_0019501 "Disgenet " 18590 PNPLA3 "Coronary Disease" MONDO_0005010 "Disgenet " 18590 PNPLA3 "Fatty Liver, Alcoholic" MONDO_0021104 "Disgenet " 18590 PNPLA3 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 18590 PNPLA3 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 18590 PNPLA3 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 18590 PNPLA3 "Fatty Liver" MONDO_0004790 "Disgenet " 18590 PNPLA3 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 18590 PNPLA3 "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 18590 PNPLA3 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 18590 PNPLA3 "Liver Disease, Alcoholic" MONDO_0043693 "Disgenet " 18590 PNPLA3 "Alcoholic Liver Cirrhosis" MONDO_0006644 "Disgenet " 18590 PNPLA3 "Hepatic steatosis" MONDO_0004790 "Disgenet " 18591 NEK9 NC MONDO_0014873 "Disgenet " 18592 NEK10 "CILIARY DYSKINESIA, PRIMARY, 44" MONDO_0032914 "Disgenet " 18592 NEK10 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 18592 NEK10 "ciliary dyskinesia, primary, 44" MONDO:0032914 "ClinGen " 18599 TUBGCP2 "PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES" MONDO_0032893 "Disgenet " 186 ADA "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 186 ADA "Childhood autism" MONDO_0005260 "Disgenet " 186 ADA "OMENN SYNDROME" MONDO_0015974 "Disgenet " 186 ADA "Adenosine deaminase [ADA] deficiency" MONDO_0007064 "Disgenet " 186 ADA Asthma MONDO_0004979 "Disgenet " 186 ADA "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 186 ADA "Combined Immunodeficiencies, Severe" MONDO_0015974 "Disgenet " 186 ADA "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency" MONDO:0007064 "ClinGen " 186 ADA "Pleural Tuberculoses" MONDO_0005922 "Disgenet " 186 ADA "Lung Neoplasm" MONDO_0002732 "Disgenet " 186 ADA "SCID due to absent lymphoid stem cells (disorder)" MONDO_0007064 "Disgenet " 18601 RTN4R Schizophrenias MONDO_0005090 "Disgenet " 18603 COL25A1 "FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5" MONDO_0014538 "Disgenet " 18618 LRRK2 "Hereditary late onset Parkinson disease" MONDO_0008199 "Disgenet " 18618 LRRK2 "Frontotemporal dementia" MONDO_0017276 "Disgenet " 18618 LRRK2 "Parkinson Disease" MONDO_0014796 "Disgenet " 18618 LRRK2 Parkinsonism MONDO_0021095 "Disgenet " 18618 LRRK2 PARK8 MONDO_0011764 "Disgenet " 18618 LRRK2 "Early onset Parkinson's disease" MONDO_0017279 "Disgenet " 18618 LRRK2 "Parkinson disease" MONDO:0005180 "ClinGen " 18620 COG4 "Microcephalic osteodysplastic dysplasia (disorder)" MONDO_0019407 "Disgenet " 18620 COG4 "COG4-congenital disorder of glycosylation" MONDO:0013281 "ClinGen " 18620 COG4 CDGIIj MONDO_0013281 "Disgenet " 18621 COG6 CDG2L MONDO_0013810 "Disgenet " 18621 COG6 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 18621 COG6 "COG6-congenital disorder of glycosylation" MONDO:0013810 "ClinGen " 18622 COG7 "COG7-congenital disorder of glycosylation" MONDO:0012118 "ClinGen " 18622 COG7 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 18622 COG7 CDGIIe MONDO_0012118 "Disgenet " 18623 COG8 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 18623 COG8 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh" MONDO_0012635 "Disgenet " 18625 FKBP14 "Ehlers Danlos Syndrome" MONDO_0020066 "Disgenet " 18626 IFT27 ciliopathy MONDO:0005308 "ClinGen " 18626 IFT27 "BARDET-BIEDL SYNDROME 19" MONDO_0014447 "Disgenet " 18626 IFT27 "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 1863 CES1 Hypercholesteremias "Disgenet " 1863 CES1 Obesity MONDO_0019182 "Disgenet " 1863 CES1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 18640 LDLRAP1 ARH MONDO_0011374 "Disgenet " 18640 LDLRAP1 "Autosomal Dominant Hypercholesterolemia" MONDO_0007750 "Disgenet " 18640 LDLRAP1 "Essential Hypercholesterolemia" MONDO_0005439 "Disgenet " 18640 LDLRAP1 "homozygous familial hypercholesterolemia (diagnosis)" MONDO_0018328 "Disgenet " 18640 LDLRAP1 "hypercholesterolemia, familial, 4" MONDO:0011374 "ClinGen " 18647 RTN4IP1 OPA10 MONDO_0020737 "Disgenet " 18654 RTTN PMGYS MONDO_0018764 "Disgenet " 18654 RTTN "microcephalic primordial dwarfism due to RTTN deficiency" MONDO:0018764 "ClinGen " 18654 RTTN "Microcephaly, congenital" "Disgenet " 18661 DNAH7 "ciliary dyskinesia, primary, 50" MONDO:0957252 "ClinGen " 18662 RAX Anophthalmias "Disgenet " 18662 RAX "MICROPHTHALMIA, SYNDROMIC 16" MONDO_0012604 "Disgenet " 18672 CDK5RAP2 "True Microcephaly" MONDO_0016660 "Disgenet " 18672 CDK5RAP2 "autosomal recessive primary microcephaly" MONDO:0016660 "ClinGen " 18672 CDK5RAP2 Microcephalies MONDO_0001149 "Disgenet " 18672 CDK5RAP2 "Microcephaly, congenital" "Disgenet " 18672 CDK5RAP2 MCPH3 MONDO_0011488 "Disgenet " 18683 EIF4A3 "ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES" MONDO_0009998 "Disgenet " 18688 CRB2 "focal segmental glomerulosclerosis 9" MONDO:0014539 "ClinGen " 18688 CRB2 "Nephrotic syndrome, steroid-resistant" MONDO_0005377 "Disgenet " 18688 CRB2 "FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9" MONDO_0014539 "Disgenet " 18688 CRB2 "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 18688 CRB2 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 18688 CRB2 "VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE" MONDO_0009063 "Disgenet " 1869 CETP "Cholesteryl ester transfer protein deficiency" MONDO_0015903 "Disgenet " 18698 DDX25 Azoospermia MONDO_0100459 "Disgenet " 18704 NAA10 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 18704 NAA10 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 18704 NAA10 "NAA10-related syndrome" MONDO:0100124 "ClinGen " 18704 NAA10 "OGDEN SYNDROME" MONDO_0010457 "Disgenet " 18704 NAA10 "MICROPHTHALMIA, SYNDROMIC 1" MONDO_0016073 "Disgenet " 18708 GRIP1 "FRASER SYNDROME 3" MONDO_0054739 "Disgenet " 18708 GRIP1 "Fraser syndrome 3" MONDO:0054739 "ClinGen " 18708 GRIP1 "Cryptophthalmos syndrome" MONDO_0009046 "Disgenet " 18712 LGI4 Arthrogryposes MONDO_0015168 "Disgenet " 18712 LGI4 AMCNMY MONDO_0015168 "Disgenet " 1874 CFL1 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 1874 CFL1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 18744 DNAI2 "primary ciliary dyskinesia 9" MONDO:0012906 "ClinGen " 18744 DNAI2 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 18744 DNAI2 "CILIARY DYSKINESIA, PRIMARY, 9" MONDO_0012906 "Disgenet " 1875 CFL2 "nemaline myopathy 7" MONDO:0012538 "ClinGen " 1875 CFL2 "NEMALINE MYOPATHY 7" MONDO_0012538 "Disgenet " 1875 CFL2 "Myopathies, Nemaline" MONDO_0018958 "Disgenet " 1875 CFL2 "Cancer, Breast" MONDO_0007254 "Disgenet " 18750 RIN2 "RIN2 syndrome" MONDO:0013115 "ClinGen " 18750 RIN2 "Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis" MONDO_0013115 "Disgenet " 18751 RIN3 "PAGET'S BONE DISEASE" MONDO_0005382 "Disgenet " 18756 RHOBTB2 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 18756 RHOBTB2 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 18756 RHOBTB2 EIEE64 MONDO_0033373 "Disgenet " 1876 CFLAR Leukemias MONDO_0005059 "Disgenet " 1876 CFLAR "Hodgkin's granuloma" MONDO_0004952 "Disgenet " 1876 CFLAR "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 18782 CCDC6 "Papillary Thyroid Carcinoma" MONDO_0005075 "Disgenet " 18786 FAM50A MRXSA MONDO_0010284 "Disgenet " 18788 KLRK1 Melanoma MONDO_0005105 "Disgenet " 18791 ZFP57 "Transitory neonatal diabetes mellitus" MONDO_0011073 "Disgenet " 18791 ZFP57 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 18795 UBD "Liver cell carcinoma" MONDO_0007256 "Disgenet " 18795 UBD "Breast Neoplasms" MONDO_0021100 "Disgenet " 18795 UBD "Celiac Disease" MONDO_0005130 "Disgenet " 18798 SLC44A1 Gliomas MONDO_0021042 "Disgenet " 18798 SLC44A1 "Glioma, malignant" MONDO_0100342 "Disgenet " 18801 POGZ "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 18801 POGZ "Global developmental delay" "Disgenet " 18801 POGZ "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 18801 POGZ "intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome" MONDO:0014606 "ClinGen " 18801 POGZ MRD37 MONDO_0014606 "Disgenet " 18801 POGZ "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 18802 ATPAF2 "mitochondrial disease" MONDO:0044970 "ClinGen " 18802 ATPAF2 "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1" MONDO_0011421 "Disgenet " 18806 CAMTA1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 18806 CAMTA1 CANPMR MONDO_0013886 "Disgenet " 18806 CAMTA1 "cerebellar dysfunction with variable cognitive and behavioral abnormalities" MONDO:0013886 "ClinGen " 18806 CAMTA1 "Hemangioendothelioma, Epithelioid" MONDO_0015523 "Disgenet " 18808 BZW2 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 18810 CATSPER2 "Chromosome 15q15.3 Deletion Syndrome" MONDO_0012621 "Disgenet " 18810 CATSPER2 "Infertility, Male" MONDO_0005372 "Disgenet " 18817 HPS6 "Hermansky-Pudlak syndrome 6" MONDO:0013558 "ClinGen " 18817 HPS6 "Hermanski Pudlak Syndrome" MONDO_0019312 "Disgenet " 18817 HPS6 "HERMANSKY-PUDLAK SYNDROME 6" MONDO_0013558 "Disgenet " 18828 NDUFAF1 "mitochondrial disease" MONDO:0044970 "ClinGen " 18828 NDUFAF1 MC1DN11 MONDO_0032617 "Disgenet " 18828 NDUFAF1 "MITOCHONDRIAL COMPLEX I DEFICIENCY" MONDO_0100133 "Disgenet " 18829 KLHL10 "SPERMATOGENIC FAILURE 11" MONDO_0014037 "Disgenet " 18831 CTHRC1 "Barrett Esophagus" MONDO_0013662 "Disgenet " 18838 PPP1R13L "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 18839 STH Schizophrenias MONDO_0005090 "Disgenet " 1884 CFTR BESC1 MONDO_0004822 "Disgenet " 1884 CFTR "Polycystic Kidney, Autosomal Recessive" MONDO_0009889 "Disgenet " 1884 CFTR "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 1884 CFTR "Insufficiencies, Pancreatic" MONDO_0001684 "Disgenet " 1884 CFTR "Infertility, Male" MONDO_0005372 "Disgenet " 1884 CFTR Asthma MONDO_0004979 "Disgenet " 1884 CFTR "Typhoid fever" MONDO_0005619 "Disgenet " 1884 CFTR "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 1884 CFTR "Pancreatitis, Alcoholic" MONDO_0003232 "Disgenet " 1884 CFTR "Obstructive azoospermia" "Disgenet " 1884 CFTR "primary sclerosing cholangitis (diagnosis)" MONDO_0018646 "Disgenet " 1884 CFTR "Chronic pancreatitis" MONDO_0005003 "Disgenet " 1884 CFTR "Chronic sinusitis" MONDO_0006031 "Disgenet " 1884 CFTR Azoospermia MONDO_0100459 "Disgenet " 1884 CFTR COPD MONDO_0005002 "Disgenet " 1884 CFTR "Hereditary pancreatitis" MONDO_0008185 "Disgenet " 1884 CFTR "Allergic Aspergilloses, Bronchopulmonary" MONDO_0015243 "Disgenet " 1884 CFTR "Recurring pancreatitis" "Disgenet " 1884 CFTR Bronchiectases MONDO_0004822 "Disgenet " 1884 CFTR Pancreatitis MONDO_0004982 "Disgenet " 1884 CFTR "Cystic Fibrosis" MONDO_0009061 "Disgenet " 1884 CFTR "Diseases, Lung" MONDO_0005275 "Disgenet " 1884 CFTR CBAVD MONDO_0010178 "Disgenet " 18854 CREB3L4 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 18856 CREB3L1 "Osteogenesis Imperfecta" MONDO_0012591 "Disgenet " 18858 PIGM "hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency" MONDO:0012465 "ClinGen " 18865 KCNT1 ENFL5 MONDO_0014002 "Disgenet " 18865 KCNT1 "childhood-onset epilepsy syndrome" MONDO:0020072 "ClinGen " 18865 KCNT1 "Epileptic Syndromes" MONDO_0015650 "Disgenet " 18865 KCNT1 "epileptic encephalopathy" "Disgenet " 18865 KCNT1 "Autosomal dominant nocturnal frontal lobe epilepsy (disorder)" MONDO_0020300 "Disgenet " 18865 KCNT1 "Migrating Partial Seizures in Infancy" MONDO_0017385 "Disgenet " 18865 KCNT1 EIEE14 MONDO_0013989 "Disgenet " 18865 KCNT1 "Epilepsies, Focal" MONDO_0005384 "Disgenet " 18866 KCNT2 EIEE57 MONDO_0033366 "Disgenet " 18871 MMAA "methylmalonic aciduria, cblA type" MONDO:0009613 "ClinGen " 18871 MMAA "METHYLMALONIC ACIDURIA, cblA TYPE" MONDO_0009613 "Disgenet " 18871 MMAA "methylmalonic aciduria" MONDO_0002012 "Disgenet " 18873 IFIH1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 18873 IFIH1 Psoriases MONDO_0005083 "Disgenet " 18873 IFIH1 "IFIH1-related type 1 interferonopathy" MONDO:0700262 "ClinGen " 18873 IFIH1 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 18873 IFIH1 "Aicardi-Goutieres syndrome" MONDO_0018866 "Disgenet " 18873 IFIH1 AGS7 MONDO_0014367 "Disgenet " 18873 IFIH1 "GRAVES DISEASE" MONDO_0005364 "Disgenet " 18873 IFIH1 "IgA Deficiency" MONDO_0001341 "Disgenet " 18873 IFIH1 "multi-system inflammatory disease, pediatric, COVID-19 related" MONDO_0100163 "Disgenet " 18873 IFIH1 "Merten-Singleton syndrome" MONDO_0008429 "Disgenet " 18874 LAT "severe combined immunodeficiency due to LAT deficiency" MONDO:0044721 "ClinGen " 18874 LAT "IMMUNODEFICIENCY 52" MONDO_0044721 "Disgenet " 18884 TDP1 SCAN1 MONDO_0011801 "Disgenet " 18957 MAGI2 Schizophrenias MONDO_0005090 "Disgenet " 18957 MAGI2 epilepsy MONDO:0005027 "ClinGen " 18957 MAGI2 Epilepsies MONDO_0005027 "Disgenet " 18969 IL31RA "Primary Localized Cutaneous Amyloidosis" MONDO_0015301 "Disgenet " 18969 IL31RA PLCA2 MONDO_0013502 "Disgenet " 18981 PDIK1L Schizophrenias MONDO_0005090 "Disgenet " 18984 BMAL2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 18984 BMAL2 "Abuse, Alcohol" MONDO_0002046 "Disgenet " 18985 DCXR "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 18985 DCXR PENTOSURIA MONDO_0009846 "Disgenet " 18986 GBA2 "complex hereditary spastic paraplegia" MONDO:0015150 "ClinGen " 18986 GBA2 "SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE" MONDO_0013737 "Disgenet " 18986 GBA2 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 18986 GBA2 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 18986 GBA2 "Paraplegias, Spastic" MONDO_0003757 "Disgenet " 19 AANAT "Depressive neurosis" MONDO_0002050 "Disgenet " 19 AANAT Depression MONDO_0002050 "Disgenet " 190 ADAM12 "Cancer, Breast" MONDO_0007254 "Disgenet " 19012 CORIN "High blood pressure" MONDO_0005044 "Disgenet " 19016 TRIM44 Aniridia MONDO_0007119 "Disgenet " 19016 TRIM44 "ANIRIDIA 3" MONDO_0014938 "Disgenet " 19016 TRIM44 "aniridia 3" MONDO:0014938 "ClinGen " 19020 TRIM47 "Breast Neoplasms" MONDO_0021100 "Disgenet " 19027 LRRC8A agammaglobulinemia MONDO:0015977 "ClinGen " 19027 LRRC8A Hypogammaglobulinemias MONDO_0015977 "Disgenet " 19027 LRRC8A Agammaglobulinemia MONDO_0015977 "Disgenet " 19035 MAST2 "thrombotic disease" MONDO:0000831 "ClinGen " 19036 MAST3 "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108" MONDO_0859314 "Disgenet " 19041 COQ8B "mitochondrial disease" MONDO:0044970 "ClinGen " 19041 COQ8B "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 19041 COQ8B "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 19041 COQ8B NPHS9 MONDO_0014257 "Disgenet " 19041 COQ8B "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 19042 MASTL THC2 MONDO_0008555 "Disgenet " 19042 MASTL Thrombocytopenia MONDO_0002049 "Disgenet " 19042 MASTL thrombocytopenia MONDO:0002049 "ClinGen " 19048 ASPM "autosomal recessive primary microcephaly" MONDO:0016660 "ClinGen " 19048 ASPM "True Microcephaly" MONDO_0016660 "Disgenet " 19048 ASPM Microcephalies MONDO_0001149 "Disgenet " 19048 ASPM MCPH1 MONDO_0009617 "Disgenet " 19048 ASPM "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 19048 ASPM MCPH5 MONDO_0012106 "Disgenet " 19048 ASPM "Liver cell carcinoma" MONDO_0007256 "Disgenet " 19048 ASPM "Microcephaly, congenital" "Disgenet " 19068 METTL27 "Syndrome, Williams" MONDO_0008678 "Disgenet " 1908 VPS13A CHAC MONDO_0008695 "Disgenet " 1908 VPS13A BHC MONDO_0001595 "Disgenet " 1908 VPS13A Chorea MONDO_0001595 "Disgenet " 1908 VPS13A CRC MONDO_0005335 "Disgenet " 19082 NALCN CLIFAHDD MONDO_0014556 "Disgenet " 19082 NALCN "Global developmental delay" "Disgenet " 19082 NALCN "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 19082 NALCN Arthrogryposes MONDO_0015168 "Disgenet " 19082 NALCN "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 19082 NALCN "Severe mental retardation" MONDO_0010402 "Disgenet " 19087 EBF3 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 19087 EBF3 "Global developmental delay" "Disgenet " 19087 EBF3 "hypotonia, ataxia, and delayed development syndrome" MONDO:0015021 "ClinGen " 19087 EBF3 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 19087 EBF3 "HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME" MONDO_0015021 "Disgenet " 19088 ASH1L "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 19088 ASH1L "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 19088 ASH1L "syndromic complex neurodevelopmental disorder" MONDO:0800439 "ClinGen " 19088 ASH1L MRD52 MONDO_0030918 "Disgenet " 19093 PSD3 Schizophrenias MONDO_0005090 "Disgenet " 19093 PSD3 "antecubital pterygium syndrome" MONDO:0008339 "ClinGen " 19102 RIGI "SINGLETON-MERTEN SYNDROME 2" MONDO_0014575 "Disgenet " 19102 RIGI Psoriases MONDO_0005083 "Disgenet " 19102 RIGI "Hepatitis C" MONDO_0005231 "Disgenet " 19102 RIGI "Merten-Singleton syndrome" MONDO_0008429 "Disgenet " 19102 RIGI Flu MONDO_0005812 "Disgenet " 19104 NPHP4 SLSN4 MONDO_0011756 "Disgenet " 19104 NPHP4 "Renal dysplasia and retinal aplasia (disorder)" MONDO_0017842 "Disgenet " 19104 NPHP4 "nephronophthisis 4" MONDO:0011752 "ClinGen " 19104 NPHP4 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 19104 NPHP4 NPHP4 MONDO_0011752 "Disgenet " 19104 NPHP4 Nephronophthisis MONDO_0019005 "Disgenet " 19117 FGD5 "Breast Neoplasms" MONDO_0021100 "Disgenet " 19124 FIP1L1 Eosinophilia MONDO_0015691 "Disgenet " 19124 FIP1L1 HES-N MONDO_0017833 "Disgenet " 19124 FIP1L1 "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 19124 FIP1L1 "Chronic Eosinophilic Leukemia, Not Otherwise Specified" MONDO_0015687 "Disgenet " 19125 FGD4 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 19125 FGD4 "CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H" MONDO_0012250 "Disgenet " 19125 FGD4 HMSN MONDO_0012250 "Disgenet " 19125 FGD4 "Charcot-Marie-Tooth disease" MONDO:0015626 "ClinGen " 19129 PSAT1 NLS2 MONDO_0014466 "Disgenet " 19129 PSAT1 "neurometabolic disorder due to serine deficiency" MONDO:0018162 "ClinGen " 19129 PSAT1 "PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY" MONDO_0012596 "Disgenet " 19129 PSAT1 "Neurometabolic disorder due to serine deficiency" MONDO_0018162 "Disgenet " 19129 PSAT1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 19129 PSAT1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 19133 HS6ST2 MRXSPM MONDO_0026724 "Disgenet " 19137 CD276 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 19137 CD276 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 19141 TTBK2 "Autosomal dominant cerebellar ataxia" MONDO_0020380 "Disgenet " 19141 TTBK2 SCA11 MONDO_0011464 "Disgenet " 19141 TTBK2 "Ataxia, Spinocerebellar" MONDO_0000437 "Disgenet " 19143 USP32 "OVARIAN CANCER, EPITHELIAL" MONDO_0018364 "Disgenet " 1915 CHD1 PILBOS MONDO_0060568 "Disgenet " 1915 CHD1 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 1915 CHD1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 1915 CHD1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 19154 GJD2 "Refractive error" MONDO_0004892 "Disgenet " 19154 GJD2 Nearsightedness MONDO_0001384 "Disgenet " 1916 CHD1L "congenital anomaly of kidney and urinary tract" MONDO:0019719 "ClinGen " 19167 KIF17 Schizophrenias MONDO_0005090 "Disgenet " 1917 CHD2 "Lennox-Gastaut syndrome" MONDO_0016532 "Disgenet " 1917 CHD2 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 1917 CHD2 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 1917 CHD2 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 1917 CHD2 "Astatic Epilepsies, Myoclonic" MONDO_0014633 "Disgenet " 1917 CHD2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 1917 CHD2 EEOC MONDO_0014150 "Disgenet " 1917 CHD2 Epilepsies MONDO_0005027 "Disgenet " 1918 CHD3 "Global developmental delay" "Disgenet " 1918 CHD3 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 1918 CHD3 "SNIJDERS BLOK-CAMPEAU SYNDROME" MONDO_0032600 "Disgenet " 1918 CHD3 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 1918 CHD3 "Snijders Blok-Campeau syndrome" MONDO:0032600 "ClinGen " 19182 SASH1 Dyschromatosis "Disgenet " 19182 SASH1 "Dyschromatosis universalis hereditaria" MONDO_0000736 "Disgenet " 19185 FRAS1 "Cryptophthalmos syndrome" MONDO_0009046 "Disgenet " 19185 FRAS1 "Fraser syndrome" MONDO:0009046 "ClinGen " 19185 FRAS1 "Renal agenesis, unspecified" MONDO_0018470 "Disgenet " 19185 FRAS1 "Renal agenesis, unilateral" MONDO_0019636 "Disgenet " 19185 FRAS1 "Congenital diaphragmatic hernia" MONDO_0007719 "Disgenet " 19189 DOCK6 "Adams-Oliver syndrome" MONDO:0007034 "ClinGen " 19189 DOCK6 "adams oliver syndrome" MONDO_0007034 "Disgenet " 19189 DOCK6 "Scalp defects with ectrodactyly" MONDO_0024506 "Disgenet " 1919 CHD4 SIHIWES MONDO_0014946 "Disgenet " 1919 CHD4 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 1919 CHD4 "Lung Neoplasm" MONDO_0002732 "Disgenet " 1919 CHD4 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 1919 CHD4 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 1919 CHD4 "syndromic intellectual disability" MONDO:0000508 "ClinGen " 19190 DOCK7 "developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 19191 DOCK8 "combined immunodeficiency due to DOCK8 deficiency" MONDO:0009478 "ClinGen " 19191 DOCK8 "Hyper IgE Syndrome" MONDO_0018037 "Disgenet " 19191 DOCK8 "Viral illness" MONDO_0005108 "Disgenet " 19191 DOCK8 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 19191 DOCK8 HIES2 MONDO_0009478 "Disgenet " 19191 DOCK8 "CID due to DOCK8 deficiency" MONDO_0009478 "Disgenet " 19191 DOCK8 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 19191 DOCK8 "Bacterial Infections" MONDO_0005113 "Disgenet " 19191 DOCK8 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 19191 DOCK8 "HIESs, Autosomal Recessive" MONDO_0009478 "Disgenet " 19191 DOCK8 "Atopic Eczema" MONDO_0011292 "Disgenet " 19192 DOCK4 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 19192 DOCK4 Schizophrenias MONDO_0005090 "Disgenet " 19192 DOCK4 "Childhood autism" MONDO_0005260 "Disgenet " 19194 HMCN1 ARMD1 MONDO_0011285 "Disgenet " 19217 THADA "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 19218 PLCZ1 "MALE INFERTILITY DUE TO OOCYTE ACTIVATION FAILURE" MONDO_0014970 "Disgenet " 19233 FUT11 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 19233 FUT11 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 19237 NANS "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE" MONDO_0012495 "Disgenet " 19238 PLEK2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 19239 SYT11 Schizophrenias MONDO_0005090 "Disgenet " 19246 TERF2IP "Hereditary Cutaneous Melanoma" MONDO_0018961 "Disgenet " 1925 CHEK1 "familial cancer of breast" MONDO_0016419 "Disgenet " 1925 CHEK1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 1925 CHEK1 "hereditary breast carcinoma" MONDO:0016419 "ClinGen " 1925 CHEK1 "familial ovarian cancer" MONDO:0016248 "ClinGen " 1925 CHEK1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 1925 CHEK1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 19261 MTO1 COXPD10 MONDO_0013865 "Disgenet " 19261 MTO1 "mitochondrial disease" MONDO:0044970 "ClinGen " 19267 MDGA1 Schizophrenias MONDO_0005090 "Disgenet " 1930 CHGB Schizophrenias MONDO_0005090 "Disgenet " 1930 CHGB "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 19304 SCAF4 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 19304 SCAF4 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 19305 SLC30A6 "Alzheimer Disease" MONDO_0012630 "Disgenet " 19309 KANK1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 19311 NPAS3 Schizophrenias MONDO_0005090 "Disgenet " 19311 NPAS3 "Bipolar Disorders" MONDO_0004985 "Disgenet " 19311 NPAS3 "Unspecified nonorganic psychosis" "Disgenet " 19311 NPAS3 Psychosis MONDO_0005485 "Disgenet " 19316 P3H1 "Osteogenesis Imperfecta" MONDO_0012591 "Disgenet " 19316 P3H1 OIC MONDO_0008147 "Disgenet " 19316 P3H1 "OSTEOGENESIS IMPERFECTA, TYPE VIII" MONDO_0012581 "Disgenet " 19316 P3H1 "OSTEOGENESIS IMPERFECTA, TYPE III" MONDO_0009804 "Disgenet " 1932 CHI3L1 "Glioma, malignant" MONDO_0100342 "Disgenet " 1932 CHI3L1 Glioblastoma MONDO_0018177 "Disgenet " 1932 CHI3L1 Gliomas MONDO_0021042 "Disgenet " 1932 CHI3L1 Asthma MONDO_0004979 "Disgenet " 1932 CHI3L1 Schizophrenias MONDO_0005090 "Disgenet " 19321 NKX6-2 SPAX8 MONDO_0033043 "Disgenet " 19331 MMAB "methylmalonic aciduria, cblB type" MONDO:0009614 "ClinGen " 19331 MMAB "METHYLMALONIC ACIDURIA, cblB TYPE" MONDO_0009614 "Disgenet " 19331 MMAB "methylmalonic aciduria" MONDO_0002012 "Disgenet " 19338 CDK19 EIEE87 MONDO_0030059 "Disgenet " 19338 CDK19 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 19344 DENND5A EIEE49 MONDO_0015002 "Disgenet " 19348 BET1L "UTERUS FIBROMA" MONDO_0007886 "Disgenet " 19349 KIF21A "Congenital fibrosis of extraocular muscles (CFEOM)" MONDO_0007614 "Disgenet " 19349 KIF21A CFEOM1 MONDO_0021083 "Disgenet " 19349 KIF21A "congenital fibrosis of extraocular muscles" MONDO:0007614 "ClinGen " 1935 CHIC2 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 19351 BICC1 Depression MONDO_0002050 "Disgenet " 19351 BICC1 "Depressive neurosis" MONDO_0002050 "Disgenet " 19353 SIN3A "WITTEVEEN-KOLK SYNDROME" MONDO_0044700 "Disgenet " 19353 SIN3A "15q24 microdeletion" MONDO_0013256 "Disgenet " 19353 SIN3A "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 19353 SIN3A "SIN3A-related intellectual disability syndrome" MONDO:0044699 "ClinGen " 19353 SIN3A "Childhood autism" MONDO_0005260 "Disgenet " 19353 SIN3A "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 19353 SIN3A "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 19355 JMJD6 Melanoma MONDO_0005105 "Disgenet " 19355 JMJD6 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 19355 JMJD6 "Breast Neoplasms" MONDO_0021100 "Disgenet " 19358 ALG12 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 19358 ALG12 "ALG12-congenital disorder of glycosylation" MONDO:0011783 "ClinGen " 19358 ALG12 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig" MONDO_0011783 "Disgenet " 19364 RTKN2 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 19364 RTKN2 Schizophrenias MONDO_0005090 "Disgenet " 19367 FAM13A "Fibrosing alveolitis" MONDO_0800029 "Disgenet " 19367 FAM13A "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 19367 FAM13A COPD MONDO_0005002 "Disgenet " 1938 CHKB "MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE" MONDO_0011246 "Disgenet " 1938 CHKB "PROXIMAL MYOPATHY WITH FOCAL DEPLETION OF MITOCHONDRIA" MONDO_0010923 "Disgenet " 1938 CHKB Narcolepsy MONDO_0019371 "Disgenet " 1938 CHKB "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 19382 SOCS2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 19382 SOCS2 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 19383 SOCS1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 19383 SOCS1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 19383 SOCS1 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 19383 SOCS1 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 19383 SOCS1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 19383 SOCS1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 19383 SOCS1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 19383 SOCS1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 19383 SOCS1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 19383 SOCS1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 19383 SOCS1 "autoinflammatory syndrome with immunodeficiency" MONDO:0800130 "ClinGen " 1939 CHL1 Schizophrenias MONDO_0005090 "Disgenet " 1939 CHL1 "Fetal Alcohol Syndrome" MONDO_0016011 "Disgenet " 1939 CHL1 "Fetal Alcohol Spectrum Disorder" MONDO_0000408 "Disgenet " 1939 CHL1 CRC MONDO_0005335 "Disgenet " 1939 CHL1 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 19391 SOCS3 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 19391 SOCS3 Atherosclerosis MONDO_0005311 "Disgenet " 19398 PGBD1 Schizophrenias MONDO_0005090 "Disgenet " 1940 CHM "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 1940 CHM choroideremia MONDO:0010557 "ClinGen " 1940 CHM Choroideremia MONDO_0010557 "Disgenet " 1940 CHM "Retinal dystrophy" MONDO_0019118 "Disgenet " 1940 CHM "Chorioretinal atrophy" "Disgenet " 19408 LRRTM1 Schizophrenias MONDO_0005090 "Disgenet " 19414 DPY19L2 "SPERMATOGENIC FAILURE 9" MONDO_0013505 "Disgenet " 19423 ING4 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 19423 ING4 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 19429 SLC41A1 "kidney disorder" MONDO:0005240 "ClinGen " 1943 CHN1 "Duane retraction syndrome 2" MONDO:0011444 "ClinGen " 1943 CHN1 "DUANE RETRACTION SYNDROME 2" MONDO_0011444 "Disgenet " 1943 CHN1 "Duane's syndrome" MONDO_0007473 "Disgenet " 19440 SBDS SDS MONDO_0009833 "Disgenet " 19440 SBDS "Shwachman-Diamond syndrome" MONDO:0009833 "ClinGen " 19440 SBDS "Aplastic anemia" MONDO_0015909 "Disgenet " 19441 RIOX2 "Lung Neoplasm" MONDO_0002732 "Disgenet " 1949 CHRD "congenital heart disease" MONDO:0005453 "ClinGen " 195 ADAM17 "Neonatal inflammatory skin and bowel disease" MONDO_0017411 "Disgenet " 195 ADAM17 "Alzheimer Disease" MONDO_0012630 "Disgenet " 195 ADAM17 Colitides MONDO_0005534 "Disgenet " 195 ADAM17 "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 195 ADAM17 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 195 ADAM17 "congenital heart disease" MONDO:0005453 "ClinGen " 1950 CHRM1 Epilepsies MONDO_0005027 "Disgenet " 1950 CHRM1 Schizophrenias MONDO_0005090 "Disgenet " 1950 CHRM1 Asthma MONDO_0004979 "Disgenet " 1951 CHRM2 "Affective Disorders" MONDO_0005371 "Disgenet " 1951 CHRM2 "Depressive neurosis" MONDO_0002050 "Disgenet " 1951 CHRM2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 1951 CHRM2 Schizophrenias MONDO_0005090 "Disgenet " 1951 CHRM2 Alcoholism MONDO_0002046 "Disgenet " 1951 CHRM2 Depression MONDO_0002050 "Disgenet " 1951 CHRM2 Asthma MONDO_0004979 "Disgenet " 1952 CHRM3 "Prune Belly Syndrome" MONDO_0007032 "Disgenet " 1952 CHRM3 COPD MONDO_0005002 "Disgenet " 1952 CHRM3 "Bladder Disease" MONDO_0006026 "Disgenet " 1953 CHRM4 Schizophrenias MONDO_0005090 "Disgenet " 1957 CHRNA3 "Lung Neoplasm" MONDO_0002732 "Disgenet " 1957 CHRNA3 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 1957 CHRNA3 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 1957 CHRNA3 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 1957 CHRNA3 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 1957 CHRNA3 "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 1957 CHRNA3 "Cocaine dependence" MONDO_0005186 "Disgenet " 1957 CHRNA3 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 1957 CHRNA3 "CARCINOMA OF LUNG" MONDO_0005138 "Disgenet " 1957 CHRNA3 "Dependence, Nicotine" MONDO_0008575 "Disgenet " 1957 CHRNA3 COPD MONDO_0005002 "Disgenet " 1957 CHRNA3 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 1957 CHRNA3 Alcoholism MONDO_0002046 "Disgenet " 1957 CHRNA3 Schizophrenias MONDO_0005090 "Disgenet " 1961 CHRNB1 "CONGEN MYASTHENIA GRAVIS" MONDO_0018940 "Disgenet " 1961 CHRNB1 CMS2A MONDO_0014581 "Disgenet " 1961 CHRNB1 "congenital myasthenic syndrome 2C" MONDO:0014582 "ClinGen " 1962 CHRNB2 "sleep-related hypermotor epilepsy" MONDO:0000030 "ClinGen " 1962 CHRNB2 Schizophrenias MONDO_0005090 "Disgenet " 1962 CHRNB2 "Autosomal dominant nocturnal frontal lobe epilepsy (disorder)" MONDO_0020300 "Disgenet " 1962 CHRNB2 "Epilepsy, Nocturnal Frontal Lobe, Type 3" MONDO_0011545 "Disgenet " 1962 CHRNB2 "Alzheimer Disease" MONDO_0012630 "Disgenet " 1962 CHRNB2 "Nocturnal frontal lobe epilepsy" MONDO_0000030 "Disgenet " 1965 CHRND "CONGEN MYASTHENIA GRAVIS" MONDO_0018940 "Disgenet " 1965 CHRND Arthrogryposes MONDO_0015168 "Disgenet " 1965 CHRND FADS MONDO_0008824 "Disgenet " 1965 CHRND "Multiple pterygium syndrome" MONDO_0009926 "Disgenet " 1965 CHRND "SLOW CHANNEL CONGEN MYASTHENIC SYNDROMES" MONDO_0018940 "Disgenet " 1965 CHRND CMS3A MONDO_0014583 "Disgenet " 1965 CHRND "MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE" MONDO_0017415 "Disgenet " 1965 CHRND CMS3C MONDO_0014585 "Disgenet " 1965 CHRND CMS3B MONDO_0014584 "Disgenet " 1966 CHRNE "MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL" MONDO_0014586 "Disgenet " 1966 CHRNE "CONGEN MYASTHENIA GRAVIS" MONDO_0018940 "Disgenet " 1966 CHRNE "SLOW CHANNEL CONGEN MYASTHENIC SYNDROMES" MONDO_0018940 "Disgenet " 1966 CHRNE "CMS1A1, FORMERLY" MONDO_0011600 "Disgenet " 1966 CHRNE "MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY" MONDO_0012157 "Disgenet " 19661 TNNI3K "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 19661 TNNI3K "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 1967 CHRNG "CHRNG-associated hypo-akinesia disorder of prenatal onset" MONDO:0100158 "ClinGen " 1967 CHRNG Arthrogryposes MONDO_0015168 "Disgenet " 1967 CHRNG "CONGEN MYASTHENIA GRAVIS" MONDO_0018940 "Disgenet " 1967 CHRNG "MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE" MONDO_0017415 "Disgenet " 1967 CHRNG "Multiple pterygium syndrome" MONDO_0009926 "Disgenet " 1967 CHRNG FADS MONDO_0008824 "Disgenet " 1968 LYST "Chediak-Higashi syndrome" MONDO:0008963 "ClinGen " 1968 LYST "Chediak Higashi Syndrome" MONDO_0008963 "Disgenet " 19687 EIF2AK4 "Pulmonary arterial hypertension" MONDO_0015924 "Disgenet " 19687 EIF2AK4 "Pulmonary hemangiomas" MONDO_0009329 "Disgenet " 19687 EIF2AK4 "Hemangiomatosis, familial pulmonary capillary" MONDO_0009329 "Disgenet " 19687 EIF2AK4 PVOD1 MONDO_0009937 "Disgenet " 19687 EIF2AK4 "pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis" MONDO:0018554 "ClinGen " 19687 EIF2AK4 "Diseases, Pulmonary Veno-Occlusive" MONDO_0009937 "Disgenet " 19687 EIF2AK4 "Familial primary pulmonary hypertension" MONDO_0001999 "Disgenet " 19687 EIF2AK4 "Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis" MONDO_0018554 "Disgenet " 19689 RD3 LCA12 MONDO_0012525 "Disgenet " 19689 RD3 "Leber congenital amaurosis" MONDO_0018998 "Disgenet " 19689 RD3 "RD3-related retinopathy" MONDO:0700235 "ClinGen " 19691 MECR "Childhood Onset Dystonia" MONDO_0003441 "Disgenet " 19691 MECR "Leigh syndrome" MONDO:0009723 "ClinGen " 19691 MECR "DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES" MONDO_0015003 "Disgenet " 19691 MECR "Atrophy, Optic" MONDO_0003608 "Disgenet " 19693 COQ4 "COENZYME Q10 DEFICIENCY, PRIMARY, 7" MONDO_0014562 "Disgenet " 19693 COQ4 "mitochondrial disease" MONDO:0044970 "ClinGen " 19693 COQ4 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 19693 COQ4 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 19694 STXBP4 "Breast Neoplasms" MONDO_0021100 "Disgenet " 19698 KCNV2 "Retinal dystrophy" MONDO_0019118 "Disgenet " 19698 KCNV2 RCD3B MONDO_0012475 "Disgenet " 19698 KCNV2 "dystrophy cone" MONDO_0000455 "Disgenet " 19698 KCNV2 "inherited retinal dystrophy" MONDO:0019118 "ClinGen " 197 ADAM19 CRC MONDO_0005335 "Disgenet " 19701 CNKSR2 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 19701 CNKSR2 "X-linked complex neurodevelopmental disorder" MONDO:0100148 "ClinGen " 19701 CNKSR2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 19706 ADAMTSL4 "Ectopia lentis isolated" MONDO_0007514 "Disgenet " 19706 ADAMTSL4 "ECTOPIA LENTIS ET PUPILLAE" MONDO_0009153 "Disgenet " 19706 ADAMTSL4 "CRANIOSYNOSTOSIS WITH ECTOPIA LENTIS" MONDO_0011347 "Disgenet " 19706 ADAMTSL4 "Ectopia Lentis" MONDO_0015998 "Disgenet " 1971 CHST3 Osteochondrodysplasia MONDO_0005516 "Disgenet " 1971 CHST3 "Skeletal dysplasia" MONDO_0018230 "Disgenet " 1971 CHST3 "Larsen's syndrome" MONDO_0007875 "Disgenet " 1971 CHST3 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 1971 CHST3 "Spondyloepiphyseal dysplasia" MONDO_0009140 "Disgenet " 1971 CHST3 "Omani type of spondyloepiphyseal dysplasia" MONDO_0007738 "Disgenet " 19710 HHIPL1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 19711 DISP1 holoprosencephaly MONDO:0016296 "ClinGen " 19711 DISP1 Holoprosencephalies MONDO_0016296 "Disgenet " 19714 DDHD1 "hereditary spastic paraplegia" MONDO:0019064 "ClinGen " 19714 DDHD1 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 19714 DDHD1 "SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE" MONDO_0012256 "Disgenet " 19715 CLSPN "Cancer, Breast" MONDO_0007254 "Disgenet " 19719 LGR6 "Breast Neoplasms" MONDO_0021100 "Disgenet " 1972 CHST4 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 19721 CANT1 "Desbuquois dysplasia 1" MONDO:0009629 "ClinGen " 19721 CANT1 "EPIPHYSEAL DYSPLASIA, MULTIPLE, 7" MONDO_0054680 "Disgenet " 19721 CANT1 "Desbuquois syndrome" MONDO_0015426 "Disgenet " 19737 TNS2 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 1974 CHUK "Bartsocas-Papas syndrome 2" MONDO:0859154 "ClinGen " 1974 CHUK "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 1974 CHUK "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 1974 CHUK "Liver, unspecified" MONDO_0002691 "Disgenet " 1974 CHUK "Liver Neoplasm" MONDO_0002691 "Disgenet " 1974 CHUK "Childhood autism" MONDO_0005260 "Disgenet " 1974 CHUK "FETAL ENCASEMENT SYNDROME" MONDO_0013334 "Disgenet " 19743 POMT2 alpha-Dystroglycanopathies MONDO_0000171 "Disgenet " 19743 POMT2 "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 19743 POMT2 "Walker-Warburg congenital muscular dystrophy" MONDO_0000171 "Disgenet " 19743 POMT2 "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2" MONDO_0013162 "Disgenet " 19743 POMT2 "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2" MONDO_0013154 "Disgenet " 19743 POMT2 MDDGB2 MONDO_0013160 "Disgenet " 19743 POMT2 FCMD MONDO_0000171 "Disgenet " 19743 POMT2 LGMD2K MONDO_0012248 "Disgenet " 19743 POMT2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 19743 POMT2 "myopathy caused by variation in POMT2" MONDO:0700071 "ClinGen " 19744 SRGAP3 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 19744 SRGAP3 Schizophrenias MONDO_0005090 "Disgenet " 19747 EVC2 "WEYERS ACROFACIAL DYSOSTOSIS" MONDO_0008673 "Disgenet " 19747 EVC2 "Chondroectodermal Dysplasias" MONDO_0009162 "Disgenet " 19750 TTC7A FIPA MONDO_0009465 "Disgenet " 19750 TTC7A "multiple intestinal atresia" MONDO:0009465 "ClinGen " 19750 TTC7A "Combined Immunodeficiencies, Severe" MONDO_0015974 "Disgenet " 19750 TTC7A "Gastrointestinal Defects and Immunodeficiency Syndrome" MONDO_0030831 "Disgenet " 19762 ZFPM1 "congenital heart disease" MONDO:0005453 "ClinGen " 1983 UTP4 NAIC MONDO_0011497 "Disgenet " 19849 C14orf39 "Testicular azoospermia" "Disgenet " 1985 CIT MCPH17 MONDO_0014908 "Disgenet " 19857 ISCA2 "mitochondrial disease" MONDO:0044970 "ClinGen " 19857 ISCA2 "MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4" MONDO_0014611 "Disgenet " 19857 ISCA2 "Multiple Mitochondrial Dysfunctions Syndrome" MONDO_0017338 "Disgenet " 19857 ISCA2 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 19869 SCARF2 "VAN DEN ENDE-GUPTA SYNDROME" MONDO_0010959 "Disgenet " 1987 CITED2 "congenital heart disease" MONDO:0005453 "ClinGen " 1987 CITED2 "Ventricular septal defect" MONDO_0002070 "Disgenet " 1987 CITED2 "Atrial septal defect" MONDO_0006664 "Disgenet " 1987 CITED2 "Defect, Heart Septal" MONDO_0002078 "Disgenet " 19877 GALNT12 "colorectal cancer, susceptibility to, 1" MONDO:0012132 "ClinGen " 19877 GALNT12 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 19880 EMILIN1 "NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE X" MONDO_0859300 "Disgenet " 1991 CKB "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 1991 CKB "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 19918 MYORG "Fahr's syndrome (diagnosis)" MONDO_0008947 "Disgenet " 19918 MYORG BSPDC MONDO_0008947 "Disgenet " 19954 SLC25A22 "Migrating Partial Seizures in Infancy" MONDO_0017385 "Disgenet " 19954 SLC25A22 "developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 19954 SLC25A22 EIEE3 MONDO_0012245 "Disgenet " 19957 TECPR2 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 19958 PRORP "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54" MONDO_0030543 "Disgenet " 19958 PRORP "mitochondrial disease" MONDO:0044970 "ClinGen " 19960 KIAA0586 "JOUBERT SYNDROME 23" MONDO_0014664 "Disgenet " 19960 KIAA0586 Polydactyly MONDO_0021003 "Disgenet " 19960 KIAA0586 CPD4 MONDO_0018772 "Disgenet " 19963 TTLL5 "TTLL5-related retinopathy" MONDO:1040038 "ClinGen " 19963 TTLL5 "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 19963 TTLL5 "Retinal dystrophy" MONDO_0019118 "Disgenet " 19963 TTLL5 "CONE-ROD DYSTROPHY 19" MONDO_0014372 "Disgenet " 19964 VASH1 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 19967 CCDC88C Hydrocephaly MONDO_0001150 "Disgenet " 19967 CCDC88C SCA40 MONDO_0014475 "Disgenet " 19967 CCDC88C "Ataxia, Spinocerebellar" MONDO_0000437 "Disgenet " 19967 CCDC88C "Congenital hydrocephalus" MONDO_0016349 "Disgenet " 19974 RHPN2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 19977 RDH12 "RDH12-related dominant retinopathy" MONDO:0800100 "ClinGen " 19977 RDH12 "RDH12-related recessive retinopathy" MONDO:0800099 "ClinGen " 19977 RDH12 "Macular dystrophy" "Disgenet " 19977 RDH12 "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 19977 RDH12 "Leber congenital amaurosis" MONDO_0018998 "Disgenet " 19977 RDH12 "LEBER CONGENITAL AMAUROSIS 13" MONDO_0012990 "Disgenet " 19977 RDH12 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 19977 RDH12 "Retinal dystrophy" MONDO_0019118 "Disgenet " 19980 GNPNAT1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 19986 CYCS "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 19986 CYCS "ISCHEMIC ENCEPH" MONDO_0005299 "Disgenet " 19986 CYCS "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 19986 CYCS Obesity MONDO_0019182 "Disgenet " 19986 CYCS "Fatty Liver" MONDO_0004790 "Disgenet " 19986 CYCS "thrombocytopenia 4" MONDO:0012775 "ClinGen " 19986 CYCS Thrombocytopenia MONDO_0002049 "Disgenet " 19986 CYCS "THROMBOCYTOPENIA 4" MONDO_0012775 "Disgenet " 19988 ANAPC1 "Rothmund Thomson Syndrome" MONDO_0013755 "Disgenet " 19988 ANAPC1 "ROTHMUND-THOMSON SYNDROME, TYPE 1" MONDO_0016368 "Disgenet " 19988 ANAPC1 "Rothmund-Thomson syndrome type 1" MONDO:0016368 "ClinGen " 19998 TNPO2 IDDHISD MONDO_0859197 "Disgenet " 20 AARS1 "Charcot-Marie-Tooth disease axonal type 2N" MONDO:0013212 "ClinGen " 20 AARS1 EIEE29 MONDO_0014593 "Disgenet " 20 AARS1 "Distal spinal muscular atrophy" MONDO_0001516 "Disgenet " 20 AARS1 Leukodystrophy MONDO_0019046 "Disgenet " 20 AARS1 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 20 AARS1 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 20 AARS1 CMT2N MONDO_0013212 "Disgenet " 2001 GREM1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 2001 GREM1 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 2001 GREM1 "hereditary mixed polyposis syndrome" MONDO:0011023 "ClinGen " 2001 GREM1 "HMPS - hereditary mixed polyposis syndrome" MONDO_0011023 "Disgenet " 2001 GREM1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 20039 CAP2 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 20039 CAP2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 20041 ZNF408 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 20041 ZNF408 "Autosomal recessive retinitis pigmentosa" "Disgenet " 20041 ZNF408 RP72 MONDO_0014653 "Disgenet " 20041 ZNF408 "EXUDATIVE VITREORETINOPATHY 6" MONDO_0014652 "Disgenet " 20041 ZNF408 "Familial exudative vitreoretinopathy" MONDO_0019516 "Disgenet " 20043 GEMIN5 "NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION" MONDO_0859152 "Disgenet " 20043 GEMIN5 "neurodevelopmental disorder with cerebellar atrophy and motor dysfunction" MONDO:0859152 "ClinGen " 20064 USP44 "congenital heart disease" MONDO:0005453 "ClinGen " 20066 USP34 "congenital heart disease" MONDO:0005453 "ClinGen " 20075 USP46 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 20080 USP45 "LEBER CONGENITAL AMAUROSIS 19" MONDO_0032794 "Disgenet " 20087 TTC8 "BARDET-BIEDL SYNDROME 8" MONDO_0014436 "Disgenet " 20087 TTC8 "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 20087 TTC8 "TTC8-related ciliopathy" MONDO:1040049 "ClinGen " 20087 TTC8 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 20091 AK7 "SPERMATOGENIC FAILURE 27" MONDO_0054731 "Disgenet " 20091 AK7 "primary ciliary dyskinesia" MONDO:0016575 "ClinGen " 20091 AK7 "spermatogenic failure 27" MONDO:0054731 "ClinGen " 201 ADAM22 EIEE61 MONDO_0033370 "Disgenet " 20105 FLVCR2 EPV MONDO_0009168 "Disgenet " 20134 GLRX5 "Anemia, Sideroblastic" MONDO_0015194 "Disgenet " 20134 GLRX5 "ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY" MONDO_0014804 "Disgenet " 20147 CYB5R4 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 20151 SLC17A8 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 20151 SLC17A8 DFNA25 MONDO_0011568 "Disgenet " 20152 ZFHX2 MARSIS MONDO_0007828 "Disgenet " 20153 CHD8 "Anxiety Disorder" MONDO_0005618 "Disgenet " 20153 CHD8 Macrocephaly MONDO_0016608 "Disgenet " 20153 CHD8 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 20153 CHD8 "Childhood autism" MONDO_0005260 "Disgenet " 20153 CHD8 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 20153 CHD8 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 20153 CHD8 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 2016 CLCA2 "Cancer, Breast" MONDO_0007254 "Disgenet " 2018 CLCA4 "Cystic Fibrosis" MONDO_0009061 "Disgenet " 20185 TMEM260 "STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME" MONDO_0044321 "Disgenet " 20187 ATG2B "Myeloid neoplasia" MONDO_0005170 "Disgenet " 20188 DNAAF2 "primary ciliary dyskinesia 10" MONDO:0012918 "ClinGen " 20188 DNAAF2 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 20188 DNAAF2 "CILIARY DYSKINESIA, PRIMARY, 10" MONDO_0012918 "Disgenet " 20188 DNAAF2 "Ciliary Dyskinesias" MONDO_0016575 "Disgenet " 20194 POLR1C "Dysostoses, Mandibulofacial" MONDO_0015483 "Disgenet " 20194 POLR1C "Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive" MONDO_0009558 "Disgenet " 20194 POLR1C "LEUKODYSTROPHY, HYPOMYELINATING, 11" MONDO_0014666 "Disgenet " 20194 POLR1C "Treacher Collins syndrome 3" MONDO:0009558 "ClinGen " 20197 SLC35C1 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 20197 SLC35C1 LAD2 MONDO_0009953 "Disgenet " 2020 CLCN2 Epilepsies MONDO_0005027 "Disgenet " 2020 CLCN2 "HYPERALDOSTERONISM, FAMILIAL, TYPE II" MONDO_0011576 "Disgenet " 2020 CLCN2 epilepsy MONDO:0005027 "ClinGen " 2020 CLCN2 "LEUKOENCEPHALOPATHY WITH ATAXIA" MONDO_0014292 "Disgenet " 2020 CLCN2 Hyperaldosteronism MONDO_0003009 "Disgenet " 2020 CLCN2 "juvenile myoclonic epilepsy" MONDO_0009696 "Disgenet " 20207 B3GLCT "PETERS-PLUS SYNDROME" MONDO_0009856 "Disgenet " 20208 PEX11G "peroxisome biogenesis disorder" MONDO:0019234 "ClinGen " 2021 CLCN3 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 2021 CLCN3 Gliomas MONDO_0021042 "Disgenet " 2021 CLCN3 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 2022 CLCN4 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 2022 CLCN4 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 2022 CLCN4 "non-syndromic X-linked intellectual disability" MONDO:0019181 "ClinGen " 2022 CLCN4 MRX49 MONDO_0010250 "Disgenet " 20226 KIF26A "complex cortical dysplasia with other brain malformations" MONDO:0000904 "ClinGen " 2023 CLCN5 "NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE" MONDO_0010687 "Disgenet " 2023 CLCN5 "HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE" MONDO_0020720 "Disgenet " 2023 CLCN5 "PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS" MONDO_0010644 "Disgenet " 2023 CLCN5 "DENT DISEASE 1" MONDO_0015612 "Disgenet " 2023 CLCN5 "Dent's disease" MONDO_0015612 "Disgenet " 2023 CLCN5 "vitamin D resistant rickets" MONDO_0019642 "Disgenet " 2023 CLCN5 "Dent disease type 1" MONDO:0010225 "ClinGen " 20233 COQ6 COQ10D6 MONDO_0013836 "Disgenet " 20234 EVL "Breast Neoplasms" MONDO_0021100 "Disgenet " 20234 EVL CRC MONDO_0005335 "Disgenet " 2024 CLCN6 CONRIBA MONDO_0030947 "Disgenet " 2024 CLCN6 "neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities" MONDO:0030947 "ClinGen " 20240 FNDC5 "High blood pressure" MONDO_0005044 "Disgenet " 20249 SPRED1 "Legius syndrome" MONDO:0012669 "ClinGen " 20249 SPRED1 NFLS MONDO_0012669 "Disgenet " 20249 SPRED1 "Neurofibromatosis 1" MONDO_0018975 "Disgenet " 2025 CLCN7 OPTB4 MONDO_0012676 "Disgenet " 2025 CLCN7 OPTA2 MONDO_0017198 "Disgenet " 2025 CLCN7 "Albers Schoenberg Disease" MONDO_0012859 "Disgenet " 2025 CLCN7 "autosomal recessive osteopetrosis 4" MONDO:0012676 "ClinGen " 2025 CLCN7 "autosomal dominant osteopetrosis 2" MONDO:0008156 "ClinGen " 2025 CLCN7 "hypopigmentation, organomegaly, and delayed myelination and development" MONDO:0032805 "ClinGen " 2025 CLCN7 "Severe osteopetrosis" MONDO_0019026 "Disgenet " 2025 CLCN7 "HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT" MONDO_0032805 "Disgenet " 2025 CLCN7 Osteoscleroses MONDO_0002933 "Disgenet " 20250 AJUBA "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 20264 LRRC10 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 20264 LRRC10 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 20266 ALG5 "autosomal dominant polycystic kidney disease" MONDO:0004691 "ClinGen " 20266 ALG5 "Polycystic Kidney, Autosomal Dominant" MONDO_0004691 "Disgenet " 20278 NUBPL "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21" MONDO_0032625 "Disgenet " 20278 NUBPL "Leigh syndrome" MONDO:0009723 "ClinGen " 20278 NUBPL "mitochondrial disease" MONDO:0044970 "ClinGen " 20278 NUBPL "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 20278 NUBPL "MITOCHONDRIAL COMPLEX I DEFICIENCY" MONDO_0100133 "Disgenet " 20286 TRIT1 COXPD35 MONDO_0054742 "Disgenet " 20286 TRIT1 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 20286 TRIT1 "mitochondrial disease" MONDO:0044970 "ClinGen " 20292 CAB39 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 20295 SLITRK5 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 20295 SLITRK5 "Disorders, Obsessive-Compulsive" MONDO_0008114 "Disgenet " 20297 SLITRK1 "Gilles de la Tourette's syndrome" MONDO_0007661 "Disgenet " 20297 SLITRK1 Trichotillomania MONDO_0013189 "Disgenet " 20309 LRCH1 "Cerebrovascular accident" MONDO_0005098 "Disgenet " 20311 CHAMP1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 20311 CHAMP1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 20311 CHAMP1 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 20311 CHAMP1 "Global developmental delay" "Disgenet " 20318 SMOC1 "Waardenburg anophthalmia syndrome" MONDO_0008800 "Disgenet " 2032 CLDN1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 2032 CLDN1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 2032 CLDN1 "Atopic Eczema" MONDO_0011292 "Disgenet " 2032 CLDN1 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 2032 CLDN1 "ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS" MONDO_0011874 "Disgenet " 20324 TGDS "Catel-Manzke syndrome" MONDO:0014507 "ClinGen " 20324 TGDS "Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome" MONDO_0014507 "Disgenet " 2033 CLDN10 HELIX MONDO_0060564 "Disgenet " 20330 POMP "KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA" MONDO_0011169 "Disgenet " 20330 POMP "Exfoliation Syndrome" MONDO_0100046 "Disgenet " 20340 PRICKLE2 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 20342 ZDHHC15 "X-linked complex neurodevelopmental disorder" MONDO:0100148 "ClinGen " 20343 GSKIP "Myeloid neoplasia" MONDO_0005170 "Disgenet " 20347 VIPAS39 "arthrogryposis, renal dysfunction, and cholestasis 2" MONDO:0013255 "ClinGen " 20347 VIPAS39 ARCS MONDO_0017123 "Disgenet " 20347 VIPAS39 "ARC syndrome" MONDO_0017123 "Disgenet " 20347 VIPAS39 "ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2" MONDO_0013255 "Disgenet " 2035 CLDN14 Hypoacusis MONDO_0005365 "Disgenet " 2035 CLDN14 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 2035 CLDN14 DFNB29 MONDO_0013537 "Disgenet " 20356 GON7 "Microcephaly nephrosis syndrome" MONDO_0009627 "Disgenet " 20361 SPTSSA SPG90A MONDO_0957308 "Disgenet " 2037 CLDN16 HOMG3 MONDO_0009550 "Disgenet " 2037 CLDN16 Nephrolithiasis MONDO_0008171 "Disgenet " 2037 CLDN16 "renal hypomagnesemia 3" MONDO:0009550 "ClinGen " 2037 CLDN16 Nephrocalcinoses MONDO_0001567 "Disgenet " 20371 NDUFA11 "mitochondrial disease" MONDO:0044970 "ClinGen " 20372 NDUFB11 "mitochondrial disease" MONDO:0044970 "ClinGen " 20372 NDUFB11 MCOPS7 MONDO_0010672 "Disgenet " 20372 NDUFB11 "Arachnocytosis of the Myocardium" MONDO_0010771 "Disgenet " 20372 NDUFB11 "MITOCHONDRIAL COMPLEX I DEFICIENCY" MONDO_0100133 "Disgenet " 20372 NDUFB11 MC1DN30 MONDO_0026721 "Disgenet " 20373 SPG21 Alcoholism MONDO_0002046 "Disgenet " 20373 SPG21 SPG21 MONDO_0009568 "Disgenet " 20373 SPG21 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 20376 SUMF1 mucosulfatidosis MONDO:0010088 "ClinGen " 20376 SUMF1 "Multiple Sulfatase Deficiency Disease" MONDO_0010088 "Disgenet " 20390 SQOR "Leigh syndrome" MONDO:0009723 "ClinGen " 20391 SULF1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 20392 SULF2 "Cancer, Breast" MONDO_0007254 "Disgenet " 20396 PILRA "Alzheimer Disease" MONDO_0012630 "Disgenet " 2040 CLDN19 Nephrocalcinoses MONDO_0001567 "Disgenet " 20406 KRT6C "Focal non epidermolytic palmoplantar keratoderma" MONDO_0014622 "Disgenet " 20406 KRT6C "PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE" MONDO_0014327 "Disgenet " 20422 POLR1D "Treacher Collins syndrome 2" MONDO:0013385 "ClinGen " 20422 POLR1D "TREACHER COLLINS SYNDROME 2" MONDO_0013385 "Disgenet " 20422 POLR1D "Dysostoses, Mandibulofacial" MONDO_0015483 "Disgenet " 20423 SPATA7 "Retinal dystrophy" MONDO_0019118 "Disgenet " 20423 SPATA7 "inherited retinal dystrophy" MONDO:0019118 "ClinGen " 20423 SPATA7 "Leber congenital amaurosis" MONDO_0018998 "Disgenet " 20423 SPATA7 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 20439 UPF3B "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 20439 UPF3B "X-linked complex neurodevelopmental disorder" MONDO:0100148 "ClinGen " 20439 UPF3B "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 20439 UPF3B "Lujan-Fryns syndrome" MONDO_0010398 "Disgenet " 20443 MTSS1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 20444 MBD5 "Childhood autism" MONDO_0005260 "Disgenet " 20444 MBD5 Schizophrenias MONDO_0005090 "Disgenet " 20444 MBD5 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 20444 MBD5 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 20444 MBD5 "2q23.1 microdeletion syndrome (disorder)" MONDO_0016459 "Disgenet " 20444 MBD5 "Global developmental delay" "Disgenet " 20444 MBD5 MRD1 MONDO_0007974 "Disgenet " 20444 MBD5 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 20444 MBD5 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 20454 POLR1B TCS4 MONDO_0030067 "Disgenet " 20454 POLR1B "Treacher Collins syndrome 4" MONDO:0030067 "ClinGen " 20454 POLR1B "Dysostoses, Mandibulofacial" MONDO_0015483 "Disgenet " 2046 CLDN4 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 2046 CLDN4 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 2046 CLDN4 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 2046 CLDN4 "Breast Neoplasms" MONDO_0021100 "Disgenet " 2046 CLDN4 "Mesothelioma, malignant" MONDO_0006292 "Disgenet " 20461 NME7 "Inversus, Situs" MONDO_0010029 "Disgenet " 2047 CLDN5 Schizophrenias MONDO_0005090 "Disgenet " 20474 TMC8 "Disease, Lewandowsky-Lutz" MONDO_0009176 "Disgenet " 2049 CLDN7 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 20492 COA8 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 20492 COA8 "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17" MONDO_0018576 "Disgenet " 20492 COA8 "mitochondrial disease" MONDO:0044970 "ClinGen " 20499 L2HGDH 2-Hydroxyglutaricaciduria MONDO_0016001 "Disgenet " 20499 L2HGDH "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 20499 L2HGDH "D-2-hydroxyglutaric aciduria" MONDO_0016001 "Disgenet " 20499 L2HGDH "mitochondrial disease" MONDO:0044970 "ClinGen " 20499 L2HGDH "L-2-HYDROXYGLUTARIC ACIDURIA" MONDO_0009370 "Disgenet " 2054 CLEC5A "Dengue hemorrhagic fever" MONDO_0005358 "Disgenet " 20566 SV2A Schizophrenias MONDO_0005090 "Disgenet " 20577 CYP26C1 "Focal facial dermal dysplasia" MONDO_0018363 "Disgenet " 20577 CYP26C1 "FOCAL FACIAL DERMAL DYSPLASIA 4" MONDO_0013997 "Disgenet " 20580 CYP2R1 Obesity MONDO_0019182 "Disgenet " 20580 CYP2R1 "High blood pressure" MONDO_0005044 "Disgenet " 20580 CYP2R1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 20580 CYP2R1 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 20580 CYP2R1 VDDR1B MONDO_0010810 "Disgenet " 20580 CYP2R1 VDD1 MONDO_0009924 "Disgenet " 20581 CYP26B1 Craniosynostosis MONDO_0015469 "Disgenet " 20581 CYP26B1 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 20582 CYP2U1 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 20582 CYP2U1 SPG56 MONDO_0014015 "Disgenet " 20582 CYP2U1 "hereditary spastic paraplegia" MONDO:0019064 "ClinGen " 20582 CYP2U1 "Paraplegias, Spastic" MONDO_0003757 "Disgenet " 20597 UFM1 "LEUKODYSTROPHY, HYPOMYELINATING, 6" MONDO_0012905 "Disgenet " 20597 UFM1 "LEUKODYSTROPHY, HYPOMYELINATING, 14" MONDO_0033486 "Disgenet " 206 ADAM28 "Lung Neoplasm" MONDO_0002732 "Disgenet " 206 ADAM28 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 206 ADAM28 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 20601 SLC23A3 Schizophrenias MONDO_0005090 "Disgenet " 20603 DHDDS "DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES" MONDO_0044326 "Disgenet " 20603 DHDDS DHDDS-CDG MONDO:1040054 "ClinGen " 20603 DHDDS "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 20603 DHDDS "RETINITIS PIGMENTOSA 59" MONDO_0013468 "Disgenet " 20603 DHDDS "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 20605 ALS2CL Schizophrenias MONDO_0005090 "Disgenet " 20606 IFT88 "Liver Neoplasm" MONDO_0002691 "Disgenet " 20606 IFT88 "Polycystic Kidney, Autosomal Recessive" MONDO_0009889 "Disgenet " 20609 AIMP2 "LEUKODYSTROPHY, HYPOMYELINATING, 17" MONDO_0054817 "Disgenet " 2062 CLIC1 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 2062 CLIC1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 20626 CHD7 "OMENN SYNDROME" MONDO_0015974 "Disgenet " 20626 CHD7 "Normosmic congenital hypogonadotropic hypogonadism" MONDO_0018555 "Disgenet " 20626 CHD7 "HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA" MONDO_0012880 "Disgenet " 20626 CHD7 "CHARGE association (disorder)" MONDO_0008965 "Disgenet " 20626 CHD7 "Syndrome, Kallmann's" MONDO_0013961 "Disgenet " 20626 CHD7 Hypoacusis MONDO_0005365 "Disgenet " 20626 CHD7 "Atrioventricular septal defect" MONDO_0020290 "Disgenet " 20626 CHD7 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 20626 CHD7 Panhypopituitarism MONDO_0019591 "Disgenet " 20626 CHD7 Hypopituitarism MONDO_0013961 "Disgenet " 20626 CHD7 "Atresias, Choanal" MONDO_0012155 "Disgenet " 20626 CHD7 "Hypogonadotropic hypogonadism" MONDO_0014102 "Disgenet " 20626 CHD7 "Child Development Disorder" MONDO_0005287 "Disgenet " 20626 CHD7 "Familial CHARGE Syndromes" MONDO_0008965 "Disgenet " 20626 CHD7 "CHARGE syndrome" MONDO:0008965 "ClinGen " 2063 CLIC2 "X-linked complex neurodevelopmental disorder" MONDO:0100148 "ClinGen " 20652 TXNDC15 ciliopathy MONDO:0005308 "ClinGen " 20652 TXNDC15 "Cancer, Breast" MONDO_0007254 "Disgenet " 20652 TXNDC15 "Meckel-Gruber syndrome" MONDO_0018921 "Disgenet " 20652 TXNDC15 MKS14 MONDO_0030819 "Disgenet " 20653 SLC9A9 "autism spectrum disorder" MONDO:0005258 "ClinGen " 20653 SLC9A9 "Childhood autism" MONDO_0005260 "Disgenet " 20653 SLC9A9 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 20655 RAPGEF6 Schizophrenias MONDO_0005090 "Disgenet " 20660 TSPAN18 Schizophrenias MONDO_0005090 "Disgenet " 20661 SLC25A26 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 20661 SLC25A26 "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28" MONDO_0014775 "Disgenet " 20661 SLC25A26 "mitochondrial disease" MONDO:0044970 "ClinGen " 20662 SLC25A24 "Progeroid Syndrome, Congenital, Petty Type" MONDO_0012853 "Disgenet " 20665 SCN3B "Brugada Syndrome" MONDO_0015263 "Disgenet " 20665 SCN3B Arrhythmia MONDO_0007263 "Disgenet " 20665 SCN3B "BRUGADA SYNDROME 7" MONDO_0013146 "Disgenet " 20665 SCN3B "Brugada syndrome 1" MONDO:0011001 "ClinGen " 20670 TWIST2 "Focal facial dermal dysplasia" MONDO_0018363 "Disgenet " 20670 TWIST2 "FFDD type 3 - focal facial dermal dysplasia type 3" "Disgenet " 20670 TWIST2 "Congenital ectodermal dysplasia of face" MONDO_0009203 "Disgenet " 20670 TWIST2 "BARBER-SAY SYNDROME" MONDO_0008853 "Disgenet " 20670 TWIST2 "ABLEPHARON-MACROSTOMIA SYNDROME" MONDO_0008693 "Disgenet " 20672 PHF8 "Mental retardation X-linked Siderius type" MONDO_0010286 "Disgenet " 20672 PHF8 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 20672 PHF8 "syndromic X-linked intellectual disability Siderius type" MONDO:0010286 "ClinGen " 20675 CNDP1 "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 20675 CNDP1 Glomerulonephritides MONDO_0002462 "Disgenet " 20692 TPH2 "Childhood autism" MONDO_0005260 "Disgenet " 20692 TPH2 Schizophrenias MONDO_0005090 "Disgenet " 20692 TPH2 "Affective Disorders" MONDO_0005371 "Disgenet " 20692 TPH2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 20692 TPH2 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 20692 TPH2 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 20692 TPH2 Depression MONDO_0002050 "Disgenet " 20692 TPH2 "Depressive neurosis" MONDO_0002050 "Disgenet " 20692 TPH2 "Paranoid Schizophrenia" MONDO_0001484 "Disgenet " 20692 TPH2 Psychosis MONDO_0005485 "Disgenet " 20692 TPH2 "Cocaine dependence" MONDO_0005186 "Disgenet " 20692 TPH2 "Disorders, Panic" MONDO_0005383 "Disgenet " 20696 ELP3 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 20716 KLC2 "SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY" MONDO_0012297 "Disgenet " 20718 OTUD7A "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 20726 SCFD1 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 2073 TPP1 "Batten Spielmeyer Vogt Disease" MONDO_0012588 "Disgenet " 2073 TPP1 CLN2 MONDO_0008769 "Disgenet " 2073 TPP1 SCAR7 MONDO_0012235 "Disgenet " 2073 TPP1 "Jansky Bielschowsky Disease" MONDO_0008767 "Disgenet " 2073 TPP1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 2073 TPP1 "KUFS DIS" MONDO_0008768 "Disgenet " 2073 TPP1 "Neuronal ceroid lipofuscinosis" MONDO_0008767 "Disgenet " 2073 TPP1 "Classic late infantile NCL" "Disgenet " 2073 TPP1 "neuronal ceroid lipofuscinosis" MONDO:0016295 "ClinGen " 20730 ARMC9 JBTS30 MONDO_0033308 "Disgenet " 20730 ARMC9 CPD4 MONDO_0018772 "Disgenet " 20730 ARMC9 "Joubert syndrome 30" MONDO:0033308 "ClinGen " 20731 GNB4 "Charcot-Marie-Tooth disease" MONDO:0015626 "ClinGen " 20731 GNB4 CMTDIF MONDO_0014074 "Disgenet " 20731 GNB4 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 2074 CLN3 "neuronal ceroid lipofuscinosis" MONDO:0016295 "ClinGen " 2074 CLN3 "Jansky Bielschowsky Disease" MONDO_0008767 "Disgenet " 2074 CLN3 "Classic juvenile NCL" "Disgenet " 2074 CLN3 "Neuronal ceroid lipofuscinosis" MONDO_0008767 "Disgenet " 2074 CLN3 "Batten Spielmeyer Vogt Disease" MONDO_0012588 "Disgenet " 20746 SESN2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 20748 FANCL "Menopause, Premature" MONDO_0001119 "Disgenet " 20748 FANCL "Fanconi anemia complementation group L" MONDO:0013566 "ClinGen " 20748 FANCL FANCL MONDO_0013566 "Disgenet " 20748 FANCL "Fanconi Anemia" MONDO_0019391 "Disgenet " 20751 WDFY3 "syndromic intellectual disability" MONDO:0000508 "ClinGen " 20751 WDFY3 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 20751 WDFY3 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 20751 WDFY3 MCPH18 MONDO_0054593 "Disgenet " 20751 WDFY3 "Childhood autism" MONDO_0005260 "Disgenet " 20758 ZFYVE19 "Byler's syndrome" MONDO_0015762 "Disgenet " 2076 CLN5 "neuronal ceroid lipofuscinosis" MONDO:0016295 "ClinGen " 2076 CLN5 "Neuronal ceroid lipofuscinosis" MONDO_0008767 "Disgenet " 2076 CLN5 "CEROID LIPOFUSCINOSIS, NEURONAL, 5" MONDO_0009745 "Disgenet " 2076 CLN5 "Jansky Bielschowsky Disease" MONDO_0008767 "Disgenet " 2076 CLN5 "Batten Spielmeyer Vogt Disease" MONDO_0012588 "Disgenet " 20761 ZFYVE26 SPG15 MONDO_0010044 "Disgenet " 20761 ZFYVE26 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 20761 ZFYVE26 "Cancer, Breast" MONDO_0007254 "Disgenet " 20761 ZFYVE26 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 20761 ZFYVE26 "Paraplegias, Spastic" MONDO_0003757 "Disgenet " 20766 TUBA1A "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 20766 TUBA1A "Global developmental delay" "Disgenet " 20766 TUBA1A "Absent corpus callosum" MONDO_0009022 "Disgenet " 20766 TUBA1A Microcephalies MONDO_0001149 "Disgenet " 20766 TUBA1A Lissencephaly MONDO_0018838 "Disgenet " 20766 TUBA1A tubulinopathy MONDO:0100153 "ClinGen " 20766 TUBA1A Pachygyria MONDO_0013541 "Disgenet " 20766 TUBA1A "Neuronal migration disorder" "Disgenet " 20766 TUBA1A "Congenital fibrosis of extraocular muscles (CFEOM)" MONDO_0007614 "Disgenet " 20766 TUBA1A "LISSENCEPHALY 3" MONDO_0015148 "Disgenet " 20767 PDLIM3 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 20767 PDLIM3 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 20767 PDLIM3 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 2077 CLN6 "CEROID LIPOFUSCINOSIS, NEURONAL, 6B (KUFS TYPE)" MONDO_0008768 "Disgenet " 2077 CLN6 "CLN6 disease" "Disgenet " 2077 CLN6 "Neuronal ceroid lipofuscinosis" MONDO_0008767 "Disgenet " 2077 CLN6 "KUFS DIS" MONDO_0008768 "Disgenet " 2077 CLN6 "Batten Spielmeyer Vogt Disease" MONDO_0012588 "Disgenet " 2077 CLN6 "Jansky Bielschowsky Disease" MONDO_0008767 "Disgenet " 2077 CLN6 vLINCL MONDO_0011144 "Disgenet " 2077 CLN6 "neuronal ceroid lipofuscinosis" MONDO:0016295 "ClinGen " 2077 CLN6 "Epilepsies, Progressive Myoclonic" MONDO_0020074 "Disgenet " 20771 TUBB4B "LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS" MONDO_0060650 "Disgenet " 20771 TUBB4B "TUBB4B-related ciliopathy" MONDO:1060115 "ClinGen " 20772 TUBB3 "TUBB3-related tubulinopathy" MONDO:0100154 "ClinGen " 20772 TUBB3 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 20772 TUBB3 CDCBM1 MONDO_0000904 "Disgenet " 20772 TUBB3 CFEOM3A MONDO_0010912 "Disgenet " 20772 TUBB3 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 20772 TUBB3 Lissencephaly MONDO_0018838 "Disgenet " 20772 TUBB3 "Congenital fibrosis of extraocular muscles (CFEOM)" MONDO_0007614 "Disgenet " 20772 TUBB3 "Breast Neoplasms" MONDO_0021100 "Disgenet " 20774 TUBB4A "Hereditary whispering dysphonia" MONDO_0007493 "Disgenet " 20774 TUBB4A "Dystonia Musculorum Deformans" MONDO_0000476 "Disgenet " 20774 TUBB4A "TUBB4A-related neurologic disorder" MONDO:0800470 "ClinGen " 20774 TUBB4A "Global developmental delay" "Disgenet " 20774 TUBB4A "LEUKODYSTROPHY, HYPOMYELINATING, 6" MONDO_0012905 "Disgenet " 20774 TUBB4A DYT4 MONDO_0007493 "Disgenet " 20778 TUBB "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6" MONDO_0014341 "Disgenet " 20778 TUBB "CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE" MONDO_0020738 "Disgenet " 20788 RHBDF2 "palmoplantar keratoderma-esophageal carcinoma syndrome" MONDO:0007856 "ClinGen " 20788 RHBDF2 TOC MONDO_0007856 "Disgenet " 2079 CLN8 "CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT" MONDO_0010830 "Disgenet " 2079 CLN8 "Neuronal ceroid lipofuscinosis" MONDO_0008767 "Disgenet " 2079 CLN8 "CEROID LIPOFUSCINOSIS, NEURONAL, 8" MONDO_0010830 "Disgenet " 2079 CLN8 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 2079 CLN8 "Batten Spielmeyer Vogt Disease" MONDO_0012588 "Disgenet " 2079 CLN8 "Jansky Bielschowsky Disease" MONDO_0008767 "Disgenet " 2079 CLN8 "CEROID LIPOFUSCINOSIS, NEURONAL, 1" MONDO_0009744 "Disgenet " 2079 CLN8 "neuronal ceroid lipofuscinosis" MONDO:0016295 "ClinGen " 20815 KDM3A "Cervical Neoplasm" MONDO_0021230 "Disgenet " 20815 KDM3A "Malignant neoplasm of cervix uteri" MONDO_0002974 "Disgenet " 20815 KDM3A "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 20815 KDM3A "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 20815 KDM3A "Cancer, Breast" MONDO_0007254 "Disgenet " 2082 CLOCK "cocaine use" "Disgenet " 2082 CLOCK Alcoholism MONDO_0002046 "Disgenet " 2082 CLOCK "Affective Disorder, Seasonal" MONDO_0000694 "Disgenet " 2082 CLOCK "Affective Disorders" MONDO_0005371 "Disgenet " 2082 CLOCK Depression MONDO_0002050 "Disgenet " 2082 CLOCK "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 2082 CLOCK "Depressive neurosis" MONDO_0002050 "Disgenet " 2082 CLOCK "Depressions, Unipolar" MONDO_0002050 "Disgenet " 2082 CLOCK "Abuse, Alcohol" MONDO_0002046 "Disgenet " 2082 CLOCK "Alzheimer Disease" MONDO_0012630 "Disgenet " 2082 CLOCK Schizophrenias MONDO_0005090 "Disgenet " 2082 CLOCK "Bipolar Disorders" MONDO_0004985 "Disgenet " 20823 DPP10 Asthma MONDO_0004979 "Disgenet " 20823 DPP10 Schizophrenias MONDO_0005090 "Disgenet " 20823 DPP10 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 20837 PAOX "Cerebrovascular accident" MONDO_0005098 "Disgenet " 2084 CLPP "Perrault syndrome 3" MONDO:0013588 "ClinGen " 2084 CLPP PRLTS3 MONDO_0013588 "Disgenet " 2084 CLPP "Perrault syndrome" MONDO_0017312 "Disgenet " 20842 FOXP4 "Cancer, Breast" MONDO_0007254 "Disgenet " 20842 FOXP4 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 20856 THAP1 Dystonia MONDO_0003441 "Disgenet " 20856 THAP1 "DYSTONIA 6, TORSION" MONDO_0011264 "Disgenet " 20856 THAP1 "Dystonia Musculorum Deformans" MONDO_0000476 "Disgenet " 20858 SLC39A14 "HYPERMANGANESEMIA WITH DYSTONIA 2" MONDO_0014864 "Disgenet " 20858 SLC39A14 "manganese poisoning" MONDO_0017638 "Disgenet " 20859 SLC39A13 "Ehlers Danlos Syndrome" MONDO_0020066 "Disgenet " 20859 SLC39A13 SCDEDS MONDO_0012873 "Disgenet " 20859 SLC39A13 "Ehlers-Danlos syndrome, spondylocheirodysplastic type" MONDO:0012873 "ClinGen " 20859 SLC39A13 "Connective Tissue Diseases" MONDO_0003900 "Disgenet " 20862 SLC39A8 "Leigh syndrome" MONDO:0009723 "ClinGen " 20862 SLC39A8 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn" MONDO_0014746 "Disgenet " 20866 RSPO3 "Breast Neoplasms" MONDO_0021100 "Disgenet " 2088 CLPX "Erythropoietic Protoporphyria" MONDO_0001676 "Disgenet " 20889 LRIG2 UFS MONDO_0000463 "Disgenet " 20893 BCOR "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 20893 BCOR "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 20893 BCOR "Childhood Renal Wilms' Tumor" MONDO_0024676 "Disgenet " 20893 BCOR Nephroblastoma MONDO_0019004 "Disgenet " 20893 BCOR "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 20893 BCOR "Adenoid cystic carcinoma" MONDO_0003175 "Disgenet " 20893 BCOR "microphthalmia, syndromic 2" MONDO:0010261 "ClinGen " 20893 BCOR "Congenital cataract" MONDO_0008925 "Disgenet " 20893 BCOR "MICROPHTHALMIA, SYNDROMIC 1" MONDO_0016073 "Disgenet " 20893 BCOR "Clear cell sarcoma of kidney" MONDO_0005006 "Disgenet " 20893 BCOR "MICROPHTHALMIA, SYNDROMIC 2" MONDO_0010261 "Disgenet " 20908 DZIP1 "SPERMATOGENIC FAILURE 47" MONDO_0030844 "Disgenet " 20908 DZIP1 "Click-Murmur Syndrome, Mitral" MONDO_0004910 "Disgenet " 20914 BLOC1S3 Schizophrenias MONDO_0005090 "Disgenet " 20914 BLOC1S3 "HERMANSKY-PUDLAK SYNDROME 8" MONDO_0013560 "Disgenet " 20914 BLOC1S3 "Hermanski Pudlak Syndrome" MONDO_0019312 "Disgenet " 20914 BLOC1S3 "Hermansky-Pudlak syndrome 8" MONDO:0013560 "ClinGen " 20917 ALPK1 "Optic nerve edema, splenomegaly syndrome (disorder)" MONDO_0013999 "Disgenet " 20917 ALPK1 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 20917 ALPK1 Gout MONDO_0005393 "Disgenet " 2092 CLTC MRD56 MONDO_0030922 "Disgenet " 2092 CLTC "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 2092 CLTC "Inflammatory Pseudotumors" MONDO_0015798 "Disgenet " 2095 CLU "High blood pressure" MONDO_0005044 "Disgenet " 2095 CLU Atherosclerosis MONDO_0005311 "Disgenet " 2095 CLU "Cancer, Breast" MONDO_0007254 "Disgenet " 2095 CLU Schizophrenias MONDO_0005090 "Disgenet " 2095 CLU "Alzheimer Disease" MONDO_0012630 "Disgenet " 2095 CLU "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 2095 CLU "Exfoliation Syndrome" MONDO_0100046 "Disgenet " 2095 CLU "Cognitive Dysfunction" "Disgenet " 2095 CLU "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2095 CLU "Acute kidney injury" MONDO_0002492 "Disgenet " 2095 CLU "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 2095 CLU Melanoma MONDO_0005105 "Disgenet " 2095 CLU "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 2095 CLU Nephropathy MONDO_0005240 "Disgenet " 2095 CLU "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 20951 FOXQ1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 20956 PHACTR2 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 20961 ANKS1A "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 20967 NACC1 "NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability" MONDO:0800475 "ClinGen " 20967 NACC1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 20967 NACC1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 2097 CMA1 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 2097 CMA1 "Atopic Eczema" MONDO_0011292 "Disgenet " 2097 CMA1 "High blood pressure" MONDO_0005044 "Disgenet " 2097 CMA1 Asthma MONDO_0004979 "Disgenet " 2097 CMA1 "Hypertrophy, Left Ventricular" "Disgenet " 20973 ADGRL1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 20973 ADGRL1 "Global developmental delay" "Disgenet " 20990 PHACTR1 "Infantile spasms" MONDO_0018097 "Disgenet " 20990 PHACTR1 "MIGRAINE HEADACHE" MONDO_0005277 "Disgenet " 20990 PHACTR1 EIEE70 MONDO_0032663 "Disgenet " 20990 PHACTR1 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 20990 PHACTR1 "Coronary Disease" MONDO_0005010 "Disgenet " 20990 PHACTR1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 20996 ASF1B "Liver cell carcinoma" MONDO_0007256 "Disgenet " 20997 ZMYND15 "Infertility, Male" MONDO_0005372 "Disgenet " 21014 ANTXR1 CRC MONDO_0005335 "Disgenet " 21014 ANTXR1 "GAPO SYNDROME" MONDO_0009263 "Disgenet " 21020 QRSL1 COXPD40 MONDO_0030006 "Disgenet " 21022 AARS2 GPSC MONDO_0800027 "Disgenet " 21022 AARS2 "mitochondrial disease" MONDO:0044970 "ClinGen " 21022 AARS2 "LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE" MONDO_0014387 "Disgenet " 21022 AARS2 COXPD8 MONDO_0013570 "Disgenet " 21024 CUL7 "YAKUT SHORT STATURE SYNDROME" MONDO_0010117 "Disgenet " 21024 CUL7 "Miller-McKusick-Malvaux-Syndrome (3M Syndrome)" MONDO_0007477 "Disgenet " 21027 ANKK1 "Depressive neurosis" MONDO_0002050 "Disgenet " 21027 ANKK1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 21027 ANKK1 Depression MONDO_0002050 "Disgenet " 21027 ANKK1 Schizophrenias MONDO_0005090 "Disgenet " 21027 ANKK1 Alcoholism MONDO_0002046 "Disgenet " 21027 ANKK1 "Dependence, Nicotine" MONDO_0008575 "Disgenet " 21027 ANKK1 "Heroin Dependence" MONDO_0005367 "Disgenet " 21027 ANKK1 Alexithymias MONDO_0000661 "Disgenet " 21027 ANKK1 "Opioid dependence" MONDO_0005530 "Disgenet " 21033 HACE1 Neuroblastoma MONDO_0005072 "Disgenet " 21034 NDUFAF4 "mitochondrial disease" MONDO:0044970 "ClinGen " 21034 NDUFAF4 "Leigh syndrome" MONDO:0009723 "ClinGen " 21034 NDUFAF4 "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15" MONDO_0032620 "Disgenet " 21035 ARHGAP18 Schizophrenias MONDO_0005090 "Disgenet " 21042 NUS1 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa" MONDO_0014904 "Disgenet " 21042 NUS1 "progressive myoclonus epilepsy" MONDO:0020074 "ClinGen " 21042 NUS1 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 21042 NUS1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 21042 NUS1 "Fatty Liver" MONDO_0004790 "Disgenet " 21042 NUS1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 21043 PITPNM3 "CONE-ROD DYSTROPHY 5" MONDO_0010969 "Disgenet " 21043 PITPNM3 "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 21050 CDKAL1 Obesity MONDO_0019182 "Disgenet " 21050 CDKAL1 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 21050 CDKAL1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 21050 CDKAL1 "Diabetes, Gestational" MONDO_0005406 "Disgenet " 21050 CDKAL1 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 21054 RSPH3 "CILIARY DYSKINESIA, PRIMARY, 32, WITHOUT SITUS INVERSUS" MONDO_0014657 "Disgenet " 21054 RSPH3 "primary ciliary dyskinesia 32" MONDO:0014657 "ClinGen " 21054 RSPH3 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 21056 ERMARD "Periventricular neuronal heterotopia" MONDO_0020341 "Disgenet " 21056 ERMARD "periventricular nodular heterotopia" MONDO:0020341 "ClinGen " 21057 RSPH9 "primary ciliary dyskinesia 12" MONDO:0012979 "ClinGen " 21057 RSPH9 CILD12 MONDO_0012979 "Disgenet " 21057 RSPH9 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 21061 SERAC1 Dystonia MONDO_0003441 "Disgenet " 21061 SERAC1 "Leigh syndrome" MONDO:0009723 "ClinGen " 21061 SERAC1 MEGDEL MONDO_0013875 "Disgenet " 21062 FARS2 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 21062 FARS2 SPG77 MONDO_0014882 "Disgenet " 21062 FARS2 COXPD14 MONDO_0013986 "Disgenet " 21062 FARS2 "Leigh syndrome" MONDO:0009723 "ClinGen " 21062 FARS2 "Global developmental delay" "Disgenet " 21065 SLC25A27 Schizophrenias MONDO_0005090 "Disgenet " 21066 TBC1D7 Macrocephaly MONDO_0016608 "Disgenet " 21073 TXNDC5 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 21073 TXNDC5 Schizophrenias MONDO_0005090 "Disgenet " 21073 TXNDC5 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 21082 SEC63 "polycystic liver disease 2" MONDO:0014860 "ClinGen " 21082 SEC63 "Isolated polycystic liver disease" MONDO_0000447 "Disgenet " 21082 SEC63 "Polycystic liver disease" MONDO_0000447 "Disgenet " 21082 SEC63 "Polycystic kidney" MONDO_0020642 "Disgenet " 21086 MIB1 "Left ventricular noncompaction" MONDO_0018901 "Disgenet " 21086 MIB1 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 21100 QKI "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 21100 QKI "Depressions, Unipolar" MONDO_0002050 "Disgenet " 21100 QKI Gliomas MONDO_0021042 "Disgenet " 21100 QKI CRC MONDO_0005335 "Disgenet " 21100 QKI Schizophrenias MONDO_0005090 "Disgenet " 21143 ZBTB24 CIID MONDO_0000133 "Disgenet " 21143 ZBTB24 "IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2" MONDO_0013553 "Disgenet " 21143 ZBTB24 "immunodeficiency-centromeric instability-facial anomalies syndrome 2" MONDO:0013553 "ClinGen " 21144 DSE ATCS MONDO_0011142 "Disgenet " 21144 DSE "Ehlers Danlos Syndrome" MONDO_0020066 "Disgenet " 21144 DSE EDSMC2 MONDO_0014236 "Disgenet " 21148 RNF123 "Depressive neurosis" MONDO_0002050 "Disgenet " 21155 MYLIP "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 21157 GTF2H5 "TRICHOTHIODYSTROPHY, COMPLEMENTATION GROUP A" MONDO_0014619 "Disgenet " 21157 GTF2H5 "Trichothiodystrophy Syndrome" MONDO_0002470 "Disgenet " 21167 PDZD4 "Cancer, Breast" MONDO_0007254 "Disgenet " 21173 LTV1 IPHAK MONDO_0859355 "Disgenet " 21176 RMND1 "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11" MONDO_0013969 "Disgenet " 21176 RMND1 "mitochondrial disease" MONDO:0044970 "ClinGen " 21176 RMND1 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 21181 SUMO4 IDDM5 MONDO_0010863 "Disgenet " 21181 SUMO4 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 21191 DAOA "Bipolar Disorders" MONDO_0004985 "Disgenet " 21191 DAOA "Affective Disorder, Psychotic" "Disgenet " 21191 DAOA "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 21191 DAOA "Depressions, Unipolar" MONDO_0002050 "Disgenet " 21191 DAOA Depression MONDO_0002050 "Disgenet " 21191 DAOA "Depressive neurosis" MONDO_0002050 "Disgenet " 21191 DAOA "Affective Disorders" MONDO_0005371 "Disgenet " 21191 DAOA Schizophrenias MONDO_0005090 "Disgenet " 21194 DOP1A "Cancer, Breast" MONDO_0007254 "Disgenet " 21197 FA2H "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 21197 FA2H "Neurodegeneration with brain iron accumulation (NBIA)" MONDO_0018307 "Disgenet " 21197 FA2H SPG35 MONDO_0012866 "Disgenet " 21197 FA2H FAHN MONDO_0017999 "Disgenet " 21197 FA2H "hereditary spastic paraplegia 35" MONDO:0012866 "ClinGen " 21197 FA2H "Paraplegias, Spastic" MONDO_0003757 "Disgenet " 21202 KIF6 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 21202 KIF6 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 21202 KIF6 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 21202 KIF6 "Coronary Disease" MONDO_0005010 "Disgenet " 21202 KIF6 "Dissection of aorta" "Disgenet " 21202 KIF6 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 21205 LINGO1 MRT64 MONDO_0020846 "Disgenet " 21205 LINGO1 "Benign essential tremor" MONDO_0003233 "Disgenet " 2121 CMKLR1 "Depressive neurosis" MONDO_0002050 "Disgenet " 2121 CMKLR1 Depression MONDO_0002050 "Disgenet " 21216 BLTP3A "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 21219 CILK1 "Short Rib Polydactyly Syndrome" MONDO_0015461 "Disgenet " 21219 CILK1 "Endocrine-cerebro-osteodysplasia syndrome" MONDO_0012980 "Disgenet " 21219 CILK1 "juvenile myoclonic epilepsy" MONDO_0009696 "Disgenet " 21219 CILK1 ECO MONDO_0012980 "Disgenet " 21228 BTBD9 "Restless legs syndrome" MONDO_0005391 "Disgenet " 21244 LEMD2 CTRCT46 MONDO_0008925 "Disgenet " 21253 LHFPL5 Hypoacusis MONDO_0005365 "Disgenet " 21253 LHFPL5 "DEAFNESS, AUTOSOMAL RECESSIVE 67" MONDO_0012460 "Disgenet " 21253 LHFPL5 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 21296 EPS8L2 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 21304 ADPRS "NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES" MONDO_0100095 "Disgenet " 21308 ELOVL5 SCA38 MONDO_0014417 "Disgenet " 21308 ELOVL5 "Ataxia, Spinocerebellar" MONDO_0000437 "Disgenet " 21316 ANKRD11 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 21316 ANKRD11 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 21316 ANKRD11 "KBG SYNDROME" MONDO_0007846 "Disgenet " 21316 ANKRD11 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 21316 ANKRD11 "KBG syndrome" MONDO:0007846 "ClinGen " 21316 ANKRD11 Astigmatism MONDO_0011284 "Disgenet " 21316 ANKRD11 Epilepsies MONDO_0005027 "Disgenet " 21316 ANKRD11 "Child Development Disorder" MONDO_0005287 "Disgenet " 21316 ANKRD11 "Global developmental delay" "Disgenet " 21348 CENPU "Liver cell carcinoma" MONDO_0007256 "Disgenet " 2135 SBF2 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 2135 SBF2 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 2135 SBF2 "Charcot-Marie-Tooth disease type 4B2" MONDO:0011475 "ClinGen " 2135 SBF2 "CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2" MONDO_0011475 "Disgenet " 21350 PDHX "PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY" MONDO_0009503 "Disgenet " 21350 PDHX "PDHC DEFIC DIS" MONDO_0019169 "Disgenet " 21350 PDHX "mitochondrial disease" MONDO:0044970 "ClinGen " 21350 PDHX "Leigh syndrome" MONDO:0009723 "ClinGen " 21350 PDHX "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 21365 LYRM4 "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19" MONDO_0014269 "Disgenet " 21365 LYRM4 Schizophrenias MONDO_0005090 "Disgenet " 21396 ABHD5 "Ichthyosis, Lamellar" MONDO_0011485 "Disgenet " 21396 ABHD5 NLSDI MONDO_0010155 "Disgenet " 21396 ABHD5 Ichthyosis MONDO_0015947 "Disgenet " 21396 ABHD5 "Dorfman-Chanarin disease" MONDO:0010155 "ClinGen " 21406 RARS2 "Pontocerebellar hypoplasia" MONDO_0020135 "Disgenet " 21406 RARS2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 21406 RARS2 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 21406 RARS2 "mitochondrial disease" MONDO:0044970 "ClinGen " 21406 RARS2 "PONTOCEREBELLAR HYPOPLASIA, TYPE 6" MONDO_0012683 "Disgenet " 21424 IFT74 "SPERMATOGENIC FAILURE 58" MONDO_0030463 "Disgenet " 21424 IFT74 "primary ciliary dyskinesia" MONDO:0016575 "ClinGen " 21424 IFT74 "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 21424 IFT74 CPD4 MONDO_0018772 "Disgenet " 21460 MIPOL1 Polydactyly MONDO_0021003 "Disgenet " 21474 INPP5E "MORM syndrome" MONDO:0012423 "ClinGen " 21474 INPP5E "Joubert syndrome 1" MONDO:0008944 "ClinGen " 21474 INPP5E "Joubert syndrome and related disorders" MONDO_0015369 "Disgenet " 21474 INPP5E "Mental retardation, truncal Obesity, Retinal dystrophy and Micropenis" MONDO_0012423 "Disgenet " 21474 INPP5E CPD4 MONDO_0018772 "Disgenet " 21474 INPP5E "Unspecified mental retardation" MONDO_0001071 "Disgenet " 21474 INPP5E "JOUBERT SYNDROME 1" MONDO_0018772 "Disgenet " 2148 CNGA1 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 2148 CNGA1 "RETINITIS PIGMENTOSA 49" MONDO_0013405 "Disgenet " 2148 CNGA1 "CNGA1-related retinopathy" MONDO:0800405 "ClinGen " 21484 MCM9 ODG4 MONDO_0014520 "Disgenet " 21484 MCM9 "Menopause, Premature" MONDO_0001119 "Disgenet " 21485 TBC1D32 Ciliopathies MONDO_0005308 "Disgenet " 21488 CENPW "Liver cell carcinoma" MONDO_0007256 "Disgenet " 21493 DNAAF4 "primary ciliary dyskinesia 25" MONDO:0014203 "ClinGen " 21493 DNAAF4 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 21493 DNAAF4 CILD25 MONDO_0014203 "Disgenet " 21493 DNAAF4 "Infertility, Male" MONDO_0005372 "Disgenet " 21493 DNAAF4 "Reading disorder" MONDO_0005489 "Disgenet " 21497 ACAD9 "acyl-CoA dehydrogenase 9 deficiency" MONDO:0012624 "ClinGen " 21497 ACAD9 "MITOCHONDRIAL COMPLEX I DEFICIENCY" MONDO_0100133 "Disgenet " 21497 ACAD9 "Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of" MONDO_0012624 "Disgenet " 21498 ATG16L1 "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 2150 CNGA3 ACHM2 MONDO_0009003 "Disgenet " 2150 CNGA3 achromatopsia MONDO_0018852 "Disgenet " 2150 CNGA3 "CNGA3-related retinopathy" MONDO:0800102 "ClinGen " 2150 CNGA3 "Retinal dystrophy" MONDO_0019118 "Disgenet " 2150 CNGA3 "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 2150 CNGA3 "Complete achromatopsia" "Disgenet " 2150 CNGA3 "Degeneration, Macular" MONDO_0003004 "Disgenet " 2150 CNGA3 "ACHROMATOPSIA 3" MONDO_0009875 "Disgenet " 2150 CNGA3 "Color vision deficiencies" MONDO_0001703 "Disgenet " 2150 CNGA3 "dystrophy cone" MONDO_0000455 "Disgenet " 21526 GNPDA2 Obesity MONDO_0019182 "Disgenet " 2153 CNGB3 "progressive cone dystrophy" MONDO_0000455 "Disgenet " 2153 CNGB3 "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 2153 CNGB3 "ACHROMATOPSIA 3" MONDO_0009875 "Disgenet " 2153 CNGB3 achromatopsia MONDO_0018852 "Disgenet " 2153 CNGB3 "Leber congenital amaurosis" MONDO_0018998 "Disgenet " 2153 CNGB3 "CNGB3-related retinopathy" MONDO:0100446 "ClinGen " 21555 EYS "EYS-related retinopathy" MONDO:0800391 "ClinGen " 21555 EYS "Autosomal recessive retinitis pigmentosa" "Disgenet " 21555 EYS "Retinal dystrophy" MONDO_0019118 "Disgenet " 21555 EYS "Macular dystrophy" "Disgenet " 21555 EYS "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 21555 EYS "RETINITIS PIGMENTOSA 25" MONDO_0011272 "Disgenet " 21555 EYS "rod cone dystrophy" MONDO_0015993 "Disgenet " 21575 AHI1 Schizophrenias MONDO_0005090 "Disgenet " 21575 AHI1 Nephronophthisis MONDO_0019005 "Disgenet " 21575 AHI1 "Retinal dystrophy" MONDO_0019118 "Disgenet " 21575 AHI1 "Childhood autism" MONDO_0005260 "Disgenet " 21575 AHI1 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 21575 AHI1 "Joubert syndrome 3" MONDO:0012078 "ClinGen " 21575 AHI1 "Global developmental delay" "Disgenet " 21575 AHI1 JBTS3 MONDO_0012078 "Disgenet " 21575 AHI1 CPD4 MONDO_0018772 "Disgenet " 21575 AHI1 "Leber congenital amaurosis" MONDO_0018998 "Disgenet " 21575 AHI1 "Joubert syndrome and related disorders" MONDO_0015369 "Disgenet " 21575 AHI1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 21576 NHLRC1 "Lafora Disease" MONDO_0009697 "Disgenet " 21576 NHLRC1 "Epilepsies, Progressive Myoclonic" MONDO_0020074 "Disgenet " 21576 NHLRC1 "Lafora disease" MONDO:0009697 "ClinGen " 2158 CNP "Depressions, Unipolar" MONDO_0002050 "Disgenet " 2158 CNP "Multiple Sclerosis" MONDO_0005301 "Disgenet " 2158 CNP "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 2158 CNP Schizophrenias MONDO_0005090 "Disgenet " 2158 CNP "LEUKODYSTROPHY, HYPOMYELINATING, 20" MONDO_0033657 "Disgenet " 21584 NKAPL Schizophrenias MONDO_0005090 "Disgenet " 2159 CNR1 "Glucose Intolerance" MONDO_0001076 "Disgenet " 2159 CNR1 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 2159 CNR1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 2159 CNR1 Catalepsies "Disgenet " 2159 CNR1 Obesity MONDO_0019182 "Disgenet " 2159 CNR1 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 2159 CNR1 "Status Epilepticus" MONDO_0002125 "Disgenet " 2159 CNR1 Alcoholism MONDO_0002046 "Disgenet " 2159 CNR1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 2159 CNR1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 2159 CNR1 "Anxiety Disorder" MONDO_0005618 "Disgenet " 2159 CNR1 "Depressive neurosis" MONDO_0002050 "Disgenet " 2159 CNR1 "Chorea, Huntington" MONDO_0011671 "Disgenet " 2159 CNR1 "Post-traumatic stress disorder" MONDO_0005146 "Disgenet " 2159 CNR1 Depression MONDO_0002050 "Disgenet " 2159 CNR1 "Abuse, Marihuana" MONDO_0005689 "Disgenet " 2159 CNR1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 2159 CNR1 "Abuse, Cannabis" MONDO_0005689 "Disgenet " 2159 CNR1 "Cocaine dependence" MONDO_0005186 "Disgenet " 2159 CNR1 Endometrioses MONDO_0005133 "Disgenet " 2159 CNR1 Schizophrenias MONDO_0005090 "Disgenet " 216 ADAM9 "ADAM9-related retinopathy" MONDO:0800398 "ClinGen " 216 ADAM9 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 216 ADAM9 "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 21606 MPC1 MPYCD MONDO_0013877 "Disgenet " 21606 MPC1 "mitochondrial disease" MONDO:0044970 "ClinGen " 21625 ANO1 "Moyamoya Disease" MONDO_0016820 "Disgenet " 21637 SATB2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 21637 SATB2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 21637 SATB2 "Global developmental delay" "Disgenet " 21637 SATB2 "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 21637 SATB2 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 21637 SATB2 "SATB2 associated disorder" MONDO:0100147 "ClinGen " 21637 SATB2 Micrognathia "Disgenet " 21637 SATB2 CP MONDO_0016064 "Disgenet " 21637 SATB2 "Cleft hard palate with cleft soft palate" MONDO_0007336 "Disgenet " 21637 SATB2 "Cleft Palate" MONDO_0016064 "Disgenet " 21637 SATB2 "SATB2-associated syndrome" MONDO_0100147 "Disgenet " 21638 CEP85L Lissencephaly MONDO_0018838 "Disgenet " 21638 CEP85L "lissencephaly 10" MONDO:0030031 "ClinGen " 21638 CEP85L LIS10 MONDO_0030031 "Disgenet " 21641 TSPAN12 "Familial exudative vitreoretinopathy" MONDO_0019516 "Disgenet " 21641 TSPAN12 "TSPAN12-related exudative vitreoretinopathy" MONDO:0700231 "ClinGen " 21641 TSPAN12 EVR5 MONDO_0013218 "Disgenet " 21642 VARS2 COXPD20 MONDO_0014397 "Disgenet " 21642 VARS2 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 21642 VARS2 "mitochondrial disease" MONDO:0044970 "ClinGen " 21645 CHCHD2 "PARKINSON DISEASE 22, AUTOSOMAL DOMINANT" MONDO_0014742 "Disgenet " 21652 OSTM1 "Albers Schoenberg Disease" MONDO_0012859 "Disgenet " 21652 OSTM1 "autosomal recessive osteopetrosis 5" MONDO:0009817 "ClinGen " 21652 OSTM1 "OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5" MONDO_0009817 "Disgenet " 21653 TOPORS "TOPORS-related retinopathy" MONDO:0700233 "ClinGen " 21653 TOPORS "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 21684 ZNF462 "Weiss-Kruszka syndrome" MONDO:0032836 "ClinGen " 21684 ZNF462 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 21686 RNASET2 "GRAVES DISEASE" MONDO_0005364 "Disgenet " 21686 RNASET2 Melanoma MONDO_0005105 "Disgenet " 21686 RNASET2 "LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY" MONDO_0013058 "Disgenet " 2169 CNTF "Multiple Sclerosis" MONDO_0005301 "Disgenet " 2169 CNTF "Chorea, Huntington" MONDO_0011671 "Disgenet " 2169 CNTF Obesity MONDO_0019182 "Disgenet " 2169 CNTF "Motor Neuron Disease" MONDO_0008780 "Disgenet " 2169 CNTF Schizophrenias MONDO_0005090 "Disgenet " 2169 CNTF "Mental Disorder" MONDO_0005084 "Disgenet " 2169 CNTF Glaucomas MONDO_0005041 "Disgenet " 2169 CNTF Depression MONDO_0002050 "Disgenet " 2169 CNTF "Depressive neurosis" MONDO_0002050 "Disgenet " 21698 RNF216 "Gordon Holmes Syndrome" MONDO_0008935 "Disgenet " 21699 CERKL "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 21699 CERKL "Retinal dystrophy" MONDO_0019118 "Disgenet " 21699 CERKL "Autosomal recessive retinitis pigmentosa" "Disgenet " 21699 CERKL "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 21699 CERKL "RETINITIS PIGMENTOSA 26" MONDO_0012024 "Disgenet " 21699 CERKL "CERKL-related retinopathy" MONDO:0800401 "ClinGen " 217 ADAMTS1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 217 ADAMTS1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 217 ADAMTS1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 217 ADAMTS1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 21701 BRAT1 "neonatal-onset encephalopathy with rigidity and seizures" MONDO:0013784 "ClinGen " 21701 BRAT1 "neurodevelopmental disorder with cerebellar atrophy and with or without seizures" MONDO:0020841 "ClinGen " 21701 BRAT1 "RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL" MONDO_0013784 "Disgenet " 21701 BRAT1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 21701 BRAT1 "NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES" MONDO_0020841 "Disgenet " 21701 BRAT1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 21708 CCM2 "Cavernous hemangioma" MONDO_0003155 "Disgenet " 21708 CCM2 "cerebral cavernous malformation 2" MONDO:0011304 "ClinGen " 21708 CCM2 CCM2 MONDO_0011304 "Disgenet " 21708 CCM2 CAM MONDO_0000820 "Disgenet " 21708 CCM2 "Familial cerebral cavernous angioma" MONDO_0031037 "Disgenet " 2172 CNTN2 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 21729 IRF2BP2 "immunodeficiency, common variable, 14" MONDO:0054691 "ClinGen " 21729 IRF2BP2 "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 21729 IRF2BP2 "Common Variable Immunodeficiency" MONDO_0015517 "Disgenet " 21729 IRF2BP2 CVID14 MONDO_0054691 "Disgenet " 21732 ANTXR2 Fibromatoses MONDO_0005031 "Disgenet " 21732 ANTXR2 "hyaline fibromatosis syndrome" MONDO:0009229 "ClinGen " 21732 ANTXR2 "Ankylosing spondylitis" MONDO_0005306 "Disgenet " 21732 ANTXR2 "Gingival Hypertrophies" MONDO_0003397 "Disgenet " 21732 ANTXR2 "Infantile systemic hyalinosis" MONDO_0016071 "Disgenet " 21732 ANTXR2 HFS MONDO_0009229 "Disgenet " 21732 ANTXR2 "Fibromatosis Syndrome, Hyaline" MONDO_0009229 "Disgenet " 21734 LHX4 Panhypopituitarism MONDO_0019591 "Disgenet " 21734 LHX4 "Pituitary Stalk Interruption Syndrome" MONDO_0019828 "Disgenet " 21735 LHX6 Schizophrenias MONDO_0005090 "Disgenet " 2174 CNTN4 "Childhood autism" MONDO_0005260 "Disgenet " 2174 CNTN4 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 2174 CNTN4 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 21744 CPEB1 "Primary amenorrhea" "Disgenet " 21746 CPEB3 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 21752 SDHAF3 Alcoholism MONDO_0002046 "Disgenet " 2176 CNTN6 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 2176 CNTN6 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 218 ADAMTS2 "Ehlers Danlos Syndrome" MONDO_0020066 "Disgenet " 218 ADAMTS2 "EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE" MONDO_0009161 "Disgenet " 2180 COCH DFNA9 MONDO_0011058 "Disgenet " 2180 COCH DFNB110 MONDO_0054860 "Disgenet " 2180 COCH "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 2180 COCH Hypoacusis MONDO_0005365 "Disgenet " 2180 COCH "Sensorineural hearing loss, bilateral" MONDO_0013269 "Disgenet " 2180 COCH "Isolated Deafness" MONDO_0019497 "Disgenet " 2183 VPS13B "Retinal dystrophy" MONDO_0019118 "Disgenet " 2183 VPS13B "Childhood autism" MONDO_0005260 "Disgenet " 2183 VPS13B "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 2183 VPS13B "Cohen syndrome" MONDO_0008999 "Disgenet " 2183 VPS13B "Global developmental delay" "Disgenet " 2183 VPS13B "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 2183 VPS13B "Cohen syndrome" MONDO:0008999 "ClinGen " 2185 COL10A1 "Schmid metaphyseal chondrodysplasia" MONDO:0007983 "ClinGen " 2185 COL10A1 "Metaphyseal chondrodysplasia" MONDO_0000138 "Disgenet " 2185 COL10A1 "METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE" MONDO_0007983 "Disgenet " 2186 COL11A1 "Marshall syndrome" MONDO_0007949 "Disgenet " 2186 COL11A1 STL2 MONDO_0011493 "Disgenet " 2186 COL11A1 "Angle Closure Glaucoma" MONDO_0001744 "Disgenet " 2186 COL11A1 STL1 MONDO_0007160 "Disgenet " 2186 COL11A1 "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 2186 COL11A1 Coxarthroses MONDO_0006629 "Disgenet " 2186 COL11A1 Fibrochondrogenesis MONDO_0016068 "Disgenet " 2186 COL11A1 "Cleft hard palate with cleft soft palate" MONDO_0007336 "Disgenet " 2186 COL11A1 "Cancer, Breast" MONDO_0007254 "Disgenet " 2186 COL11A1 "Connective Tissue Diseases" MONDO_0003900 "Disgenet " 2186 COL11A1 Nearsightedness MONDO_0001384 "Disgenet " 2186 COL11A1 "Stickler syndrome (diagnosis)" MONDO_0019354 "Disgenet " 2186 COL11A1 "FIBROCHONDROGENESIS 1" MONDO_0009226 "Disgenet " 21862 DYNC2I1 "short-rib thoracic dysplasia 8 with or without polydactyly" MONDO:0014214 "ClinGen " 21862 DYNC2I1 "Asphyxiating thoracic dystrophy" MONDO_0018770 "Disgenet " 21862 DYNC2I1 SRPS6 MONDO_0014214 "Disgenet " 21863 RBM28 "ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME" MONDO_0012794 "Disgenet " 21869 AGK "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 21869 AGK "Sengers syndrome" MONDO_0008922 "Disgenet " 21869 AGK "Congenital cataract" MONDO_0008925 "Disgenet " 21869 AGK "mitochondrial disease" MONDO:0044970 "ClinGen " 2187 COL11A2 "Weissenbacher-Zweymuller syndrome" MONDO_0008975 "Disgenet " 2187 COL11A2 DFNB53 MONDO_0012333 "Disgenet " 2187 COL11A2 "Otospondylomegaepiphyseal dysplasia" MONDO_0008975 "Disgenet " 2187 COL11A2 Hypoacusis MONDO_0005365 "Disgenet " 2187 COL11A2 "Cleft Palate" MONDO_0016064 "Disgenet " 2187 COL11A2 "CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS" MONDO_0009573 "Disgenet " 2187 COL11A2 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 2187 COL11A2 "otospondylomegaepiphyseal dysplasia" MONDO:0008975 "ClinGen " 2187 COL11A2 "otospondylomegaepiphyseal dysplasia" MONDO:0008975 "ClinGen " 2187 COL11A2 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 2187 COL11A2 "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 2187 COL11A2 DFNA13 MONDO_0011159 "Disgenet " 2187 COL11A2 STL1 MONDO_0007160 "Disgenet " 21876 RINT1 "hereditary breast carcinoma" MONDO:0016419 "ClinGen " 21876 RINT1 "familial ovarian cancer" MONDO:0016248 "ClinGen " 2188 COL12A1 "Bethlem myopathy" MONDO_0008029 "Disgenet " 2188 COL12A1 "Ullrich congenital muscular dystrophy" MONDO_0000355 "Disgenet " 2188 COL12A1 "EDS/myopathy overlap syndrome" MONDO_0034022 "Disgenet " 219 ADAMTS3 "Lymphangiectasies and lymphedema Hennekam type" MONDO_0016256 "Disgenet " 2190 COL13A1 "CONGEN MYASTHENIA GRAVIS" MONDO_0018940 "Disgenet " 21904 NCAPG2 "Khan-Khan-Katsanis syndrome" MONDO:0032764 "ClinGen " 2192 COL15A1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 21923 STEAP4 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2195 COL18A1 "Knobloch syndrome 1" MONDO:0800167 "ClinGen " 2195 COL18A1 "Knobloch syndrome" MONDO_0800166 "Disgenet " 2195 COL18A1 "Severe myopia (> -6.00 diopters)" "Disgenet " 21957 KCTD7 "Neuronal ceroid lipofuscinosis" MONDO_0008767 "Disgenet " 21957 KCTD7 "progressive myoclonus epilepsy" MONDO:0020074 "ClinGen " 21957 KCTD7 EPM3 MONDO_0012721 "Disgenet " 21957 KCTD7 "Epilepsies, Progressive Myoclonic" MONDO_0020074 "Disgenet " 2197 COL1A1 "Ehlers-Danlos syndrome, classic severe form" MONDO_0019567 "Disgenet " 2197 COL1A1 "COL1A1-related Ehlers-Danlos syndrome" MONDO:0100599 "ClinGen " 2197 COL1A1 "osteogenesis imperfecta" MONDO:0019019 "ClinGen " 2197 COL1A1 "Caffey disease" MONDO:0007244 "ClinGen " 2197 COL1A1 EDS7A MONDO_0007525 "Disgenet " 2197 COL1A1 "Skeletal dysplasia" MONDO_0018230 "Disgenet " 2197 COL1A1 "EHLERS-DANLOS SYNDROME, CLASSIC TYPE" MONDO_0007522 "Disgenet " 2197 COL1A1 "Bone Losses, Perimenopausal" MONDO_0008159 "Disgenet " 2197 COL1A1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 2197 COL1A1 Keloid MONDO_0005348 "Disgenet " 2197 COL1A1 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 2197 COL1A1 "COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1" MONDO_0016470 "Disgenet " 2197 COL1A1 "Ehlers Danlos Syndrome" MONDO_0020066 "Disgenet " 2197 COL1A1 "Dentinogenesis Imperfecta" MONDO_0014560 "Disgenet " 2197 COL1A1 Dermatofibrosarcoma MONDO_0011934 "Disgenet " 2197 COL1A1 "Dermatofibroma protuberans" MONDO_0011934 "Disgenet " 2197 COL1A1 Osteopenia "Disgenet " 2197 COL1A1 "Connective Tissue Diseases" MONDO_0003900 "Disgenet " 2197 COL1A1 Osteoporoses MONDO_0005298 "Disgenet " 2197 COL1A1 "Disease, Lobstein" MONDO_0008146 "Disgenet " 2197 COL1A1 "OSTEOGENESIS IMPERFECTA, TYPE IV" MONDO_0008148 "Disgenet " 2197 COL1A1 "OSTEOGENESIS IMPERFECTA, TYPE III" MONDO_0009804 "Disgenet " 2197 COL1A1 OIC MONDO_0008147 "Disgenet " 2197 COL1A1 "Osteogenesis Imperfecta" MONDO_0012591 "Disgenet " 2197 COL1A1 "Caffey De Toni Silvermann Syndrome" MONDO_0007244 "Disgenet " 2198 COL1A2 "Osteogenesis Imperfecta" MONDO_0012591 "Disgenet " 2198 COL1A2 "OSTEOGENESIS IMPERFECTA, TYPE III" MONDO_0009804 "Disgenet " 2198 COL1A2 OIC MONDO_0008147 "Disgenet " 2198 COL1A2 Osteoporoses MONDO_0005298 "Disgenet " 2198 COL1A2 "Bone Losses, Perimenopausal" MONDO_0008159 "Disgenet " 2198 COL1A2 "High bone mass osteogenesis imperfecta (disorder)" MONDO_0017791 "Disgenet " 2198 COL1A2 "Skeletal dysplasia" MONDO_0018230 "Disgenet " 2198 COL1A2 "OSTEOGENESIS IMPERFECTA, TYPE IV" MONDO_0008148 "Disgenet " 2198 COL1A2 "Ehlers Danlos Syndrome" MONDO_0020066 "Disgenet " 2198 COL1A2 "Ehlers-Danlos syndrome cardiac valvular type (disorder)" MONDO_0009159 "Disgenet " 2198 COL1A2 "Disease, Lobstein" MONDO_0008146 "Disgenet " 2198 COL1A2 "OIEDS SYNDROME 2" MONDO_0030855 "Disgenet " 2198 COL1A2 "COL1A2-related osteogenesis imperfecta" MONDO:0100596 "ClinGen " 2198 COL1A2 "COL1A2-related Ehlers-Danlos syndrome" MONDO:0100606 "ClinGen " 2198 COL1A2 "Ehlers-Danlos syndrome, cardiac valvular type" MONDO:0009159 "ClinGen " 2198 COL1A2 "congenital heart disease" MONDO:0005453 "ClinGen " 2198 COL1A2 "Aneurysms, Intracranial" MONDO_0005291 "Disgenet " 2198 COL1A2 "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 2198 COL1A2 "Connective Tissue Diseases" MONDO_0003900 "Disgenet " 2198 COL1A2 "Dentinogenesis Imperfecta" MONDO_0014560 "Disgenet " 2198 COL1A2 "Abnormality of the skeletal system" "Disgenet " 2198 COL1A2 "Heart Valve Disease" MONDO_0002869 "Disgenet " 2201 COL3A1 "Marfan Syndrome" MONDO_0007947 "Disgenet " 2201 COL3A1 "Aneurysms, Aortic" MONDO_0005160 "Disgenet " 2201 COL3A1 "dissection of artery (diagnosis)" "Disgenet " 2201 COL3A1 "Dissection of aorta" "Disgenet " 2201 COL3A1 "Ehlers Danlos Syndrome" MONDO_0020066 "Disgenet " 2201 COL3A1 EDS4 MONDO_0007524 "Disgenet " 2201 COL3A1 Acrogeria MONDO_0008716 "Disgenet " 2201 COL3A1 CRC MONDO_0005335 "Disgenet " 2201 COL3A1 Keloid MONDO_0005348 "Disgenet " 2201 COL3A1 "AORTIC ANEURYSM, FAMILIAL THORACIC 1" MONDO_0024559 "Disgenet " 2201 COL3A1 "Loeys-Dietz Syndrome" MONDO_0018954 "Disgenet " 2201 COL3A1 "Connective Tissue Diseases" MONDO_0003900 "Disgenet " 2201 COL3A1 "Ehlers-Danlos syndrome, vascular type" MONDO:0017314 "ClinGen " 2202 COL4A1 "Porencephaly, Type 1, Autosomal Dominant" MONDO_0020496 "Disgenet " 2202 COL4A1 "Cerebral Palsy" MONDO_0006497 "Disgenet " 2202 COL4A1 "Retinal hemorrhage with vascular tortuosity" "Disgenet " 2202 COL4A1 "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 2202 COL4A1 "Chronic renal disease" MONDO_0005300 "Disgenet " 2202 COL4A1 Cakut MONDO_0019719 "Disgenet " 2202 COL4A1 Keratoconus MONDO_0015486 "Disgenet " 2202 COL4A1 SCHIZENCEPHALY MONDO_0010011 "Disgenet " 2202 COL4A1 "DEMENTIA, HEREDITARY MULTI-INFARCT, SWEDISH TYPE" MONDO_0032814 "Disgenet " 2202 COL4A1 "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 2202 COL4A1 "Anemia, Hemolytic" MONDO_0003664 "Disgenet " 2202 COL4A1 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 2202 COL4A1 "Optic nerve hypoplasia" MONDO_0008136 "Disgenet " 2202 COL4A1 "Peters anomaly" MONDO_0011414 "Disgenet " 2202 COL4A1 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 2202 COL4A1 "Familial porencephaly (disorder)" MONDO_0017410 "Disgenet " 2202 COL4A1 ASMD MONDO_0019503 "Disgenet " 2202 COL4A1 "ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS" MONDO_0012726 "Disgenet " 2202 COL4A1 "Congenital cataract" MONDO_0008925 "Disgenet " 2202 COL4A1 Porencephaly MONDO_0017410 "Disgenet " 2202 COL4A1 Porencephaly MONDO_0017410 "Disgenet " 2202 COL4A1 Leukoencephalopathy "Disgenet " 2203 COL4A2 "Familial porencephaly (disorder)" MONDO_0017410 "Disgenet " 2203 COL4A2 "POREN2, FORMERLY" MONDO_0013773 "Disgenet " 2203 COL4A2 Porencephaly MONDO_0017410 "Disgenet " 2203 COL4A2 "Cerebral Palsy" MONDO_0006497 "Disgenet " 2204 COL4A3 Nephropathy MONDO_0005240 "Disgenet " 2204 COL4A3 "Alport syndrome" MONDO:0018965 "ClinGen " 2204 COL4A3 "Alport Syndrome, Autosomal Recessive" MONDO_0008762 "Disgenet " 2204 COL4A3 TMN MONDO_0957317 "Disgenet " 2204 COL4A3 "urine blood" "Disgenet " 2204 COL4A3 "Alport's syndrome" MONDO_0005334 "Disgenet " 2204 COL4A3 "Alport Syndrome, Autosomal Dominant" MONDO_0005334 "Disgenet " 2204 COL4A3 "Chronic renal disease" MONDO_0005300 "Disgenet " 2204 COL4A3 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 2204 COL4A3 "Nephritis, Hereditary" MONDO_0005334 "Disgenet " 2204 COL4A3 "ALPORT SYNDROME 3, AUTOSOMAL DOMINANT" MONDO_0007086 "Disgenet " 2204 COL4A3 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 2204 COL4A3 Hypoacusis MONDO_0005365 "Disgenet " 2204 COL4A3 "Glomerular diseases" MONDO_0019722 "Disgenet " 2205 CERT1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 2205 CERT1 MRD34 MONDO_0014599 "Disgenet " 2206 COL4A4 Nearsightedness MONDO_0001384 "Disgenet " 2206 COL4A4 "Alport syndrome" MONDO:0018965 "ClinGen " 2206 COL4A4 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 2206 COL4A4 "ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE" MONDO_0008762 "Disgenet " 2206 COL4A4 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 2206 COL4A4 ESRD MONDO_0004375 "Disgenet " 2206 COL4A4 Nephropathy MONDO_0005240 "Disgenet " 2206 COL4A4 "Alport Syndrome, Autosomal Dominant" MONDO_0005334 "Disgenet " 2206 COL4A4 "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 2206 COL4A4 TMN MONDO_0957317 "Disgenet " 2206 COL4A4 "Alport Syndrome, Autosomal Recessive" MONDO_0008762 "Disgenet " 2206 COL4A4 "Chronic renal disease" MONDO_0005300 "Disgenet " 2206 COL4A4 "Alport's syndrome" MONDO_0005334 "Disgenet " 2206 COL4A4 "urine blood" "Disgenet " 2207 COL4A5 "urine blood" "Disgenet " 2207 COL4A5 Nephropathy MONDO_0005240 "Disgenet " 2207 COL4A5 "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 2207 COL4A5 "Alport syndrome" MONDO:0018965 "ClinGen " 2207 COL4A5 "Familial hematuria" "Disgenet " 2207 COL4A5 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 2207 COL4A5 "Chronic renal disease" MONDO_0005300 "Disgenet " 2207 COL4A5 "ALPORT SYNDROME 1, X-LINKED" MONDO_0018965 "Disgenet " 2207 COL4A5 "Alport Syndrome, X-Linked" MONDO_0010520 "Disgenet " 2207 COL4A5 "Glomerular diseases" MONDO_0019722 "Disgenet " 2207 COL4A5 "Alport's syndrome" MONDO_0005334 "Disgenet " 2207 COL4A5 "Nephritis, Hereditary" MONDO_0005334 "Disgenet " 2208 COL4A6 "hearing loss, X-linked 6" MONDO:0010484 "ClinGen " 2208 COL4A6 DFNX6 MONDO_0010484 "Disgenet " 2208 COL4A6 CRC MONDO_0005335 "Disgenet " 22082 VMA21 "MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY" MONDO_0010684 "Disgenet " 2209 COL5A1 "Ehlers-Danlos syndrome, classic type" MONDO:0007522 "ClinGen " 2209 COL5A1 "Connective Tissue Diseases" MONDO_0003900 "Disgenet " 2209 COL5A1 "Ehlers Danlos Syndrome" MONDO_0020066 "Disgenet " 2209 COL5A1 "EHLERS-DANLOS SYNDROME, CLASSIC TYPE" MONDO_0007522 "Disgenet " 2209 COL5A1 "Ehlers-Danlos syndrome, classic severe form" MONDO_0019567 "Disgenet " 2209 COL5A1 "Ehlers-Danlos syndrome, MITIS type" MONDO_0019568 "Disgenet " 2210 COL5A2 "Ehlers Danlos Syndrome" MONDO_0020066 "Disgenet " 2210 COL5A2 "EHLERS-DANLOS SYNDROME, CLASSIC TYPE" MONDO_0007522 "Disgenet " 2210 COL5A2 "Ehlers-Danlos syndrome, classic type" MONDO:0007522 "ClinGen " 2210 COL5A2 "Connective Tissue Diseases" MONDO_0003900 "Disgenet " 2210 COL5A2 "Ehlers-Danlos syndrome, MITIS type" MONDO_0019568 "Disgenet " 2211 COL6A1 "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 2211 COL6A1 UCMD MONDO_0000355 "Disgenet " 2211 COL6A1 "Ullrich congenital muscular dystrophy" MONDO_0000355 "Disgenet " 2211 COL6A1 "Bethlem myopathy" MONDO_0008029 "Disgenet " 2211 COL6A1 "Collagen VI-related congenital muscular dystrophy" MONDO_0958077 "Disgenet " 2211 COL6A1 Myopathy MONDO_0003939 "Disgenet " 2211 COL6A1 "collagen 6-related myopathy" MONDO:0100225 "ClinGen " 2211 COL6A1 "collagen 6-related myopathy" MONDO:0100225 "ClinGen " 2212 COL6A2 "collagen 6-related myopathy" MONDO:0100225 "ClinGen " 2212 COL6A2 "collagen 6-related myopathy" MONDO:0100225 "ClinGen " 2212 COL6A2 "MYOSCLEROSIS, AUTOSOMAL RECESSIVE" MONDO_0009714 "Disgenet " 2212 COL6A2 "Bethlem myopathy" MONDO_0008029 "Disgenet " 2212 COL6A2 "Ullrich congenital muscular dystrophy" MONDO_0000355 "Disgenet " 2212 COL6A2 Myopathy MONDO_0003939 "Disgenet " 2212 COL6A2 UCMD MONDO_0000355 "Disgenet " 2212 COL6A2 "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 2212 COL6A2 "Collagen VI-related congenital muscular dystrophy" MONDO_0958077 "Disgenet " 2213 COL6A3 "Collagen VI-related congenital muscular dystrophy" MONDO_0958077 "Disgenet " 2213 COL6A3 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 2213 COL6A3 "High blood pressure" MONDO_0005044 "Disgenet " 2213 COL6A3 "collagen 6-related myopathy" MONDO:0100225 "ClinGen " 2213 COL6A3 "dystonia 27" MONDO:0014627 "ClinGen " 2213 COL6A3 "collagen 6-related myopathy" MONDO:0100225 "ClinGen " 2213 COL6A3 Dystonia MONDO_0003441 "Disgenet " 2213 COL6A3 "DYSTONIA 27" MONDO_0014627 "Disgenet " 2213 COL6A3 UCMD MONDO_0000355 "Disgenet " 2213 COL6A3 "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 2213 COL6A3 Myopathy MONDO_0003939 "Disgenet " 2213 COL6A3 "Bethlem myopathy" MONDO_0008029 "Disgenet " 2213 COL6A3 "Ullrich congenital muscular dystrophy" MONDO_0000355 "Disgenet " 2214 COL7A1 "Epidermolysis bullosa dystrophica, Parsini type" MONDO_0007549 "Disgenet " 2214 COL7A1 TBDN MONDO_0007548 "Disgenet " 2214 COL7A1 "EPIDERMOLYSIS BULLOSA PRURIGINOSA" MONDO_0011398 "Disgenet " 2214 COL7A1 "recessive dystrophic epidermolysis bullosa" MONDO:0009179 "ClinGen " 2214 COL7A1 "Dystrophic epidermolysis bullosa inverse type (disorder)" MONDO_0019310 "Disgenet " 2214 COL7A1 "Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis" MONDO_0009179 "Disgenet " 2214 COL7A1 "TOENAIL DYSTROPHY, ISOLATED" MONDO_0011852 "Disgenet " 2214 COL7A1 "Nail dystrophy" "Disgenet " 2214 COL7A1 "EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL" MONDO_0007552 "Disgenet " 2214 COL7A1 "Epidermolysis Bullosa Dystrophica" MONDO_0006543 "Disgenet " 2214 COL7A1 "Hallopeau Siemens Disease" MONDO_0006543 "Disgenet " 2214 COL7A1 "Epidermolysis Bullosa" MONDO_0006541 "Disgenet " 22140 FAM20C "Amelogenesis Imperfecta" MONDO_0007092 "Disgenet " 22140 FAM20C "RAINE SYNDROME" MONDO_0009821 "Disgenet " 2216 COL8A2 PPCD MONDO_0020364 "Disgenet " 2216 COL8A2 "Dystrophy, Fuch's Endothelial" MONDO_0005321 "Disgenet " 2216 COL8A2 PPCD2 MONDO_0012199 "Disgenet " 2216 COL8A2 "Corneal Dystrophies, Hereditary" MONDO_0012199 "Disgenet " 2216 COL8A2 FECD1 MONDO_0005321 "Disgenet " 2217 COL9A1 "Stickler syndrome" MONDO:0019354 "ClinGen " 2217 COL9A1 "Autosomal recessive Stickler syndrome" "Disgenet " 2217 COL9A1 STL1 MONDO_0007160 "Disgenet " 2217 COL9A1 "Multiple epiphyseal dysplasia" MONDO_0016648 "Disgenet " 2217 COL9A1 "Stickler syndrome (diagnosis)" MONDO_0019354 "Disgenet " 2218 COL9A2 "Stickler syndrome (diagnosis)" MONDO_0019354 "Disgenet " 2218 COL9A2 "Stickler syndrome" MONDO:0019354 "ClinGen " 2218 COL9A2 "DISCOGENIC DISEASE" MONDO_0011385 "Disgenet " 2218 COL9A2 "Autosomal recessive Stickler syndrome" "Disgenet " 2219 COL9A3 "DISCOGENIC DISEASE" MONDO_0011385 "Disgenet " 2219 COL9A3 "Autosomal recessive Stickler syndrome" "Disgenet " 2219 COL9A3 "Multiple epiphyseal dysplasia" MONDO_0016648 "Disgenet " 2219 COL9A3 "Stickler syndrome" MONDO:0019354 "ClinGen " 2219 COL9A3 "RETINA DETACHMENT" MONDO_0008375 "Disgenet " 2219 COL9A3 "Stickler syndrome (diagnosis)" MONDO_0019354 "Disgenet " 2219 COL9A3 "EPIPHYSEAL DYSPLASIA, MULTIPLE, 3" MONDO_0010964 "Disgenet " 22192 SCRN1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 22194 KLHDC10 "Breast Neoplasms" MONDO_0021100 "Disgenet " 22197 AP5Z1 "hereditary spastic paraplegia" MONDO:0019064 "ClinGen " 22197 AP5Z1 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 22197 AP5Z1 SPG48 MONDO_0013342 "Disgenet " 22197 AP5Z1 "Paraplegias, Spastic" MONDO_0003757 "Disgenet " 2226 COLQ "Synaptic congenital myasthenic syndromes" "Disgenet " 2226 COLQ EAD MONDO_0011281 "Disgenet " 2226 COLQ "CONGEN MYASTHENIA GRAVIS" MONDO_0018940 "Disgenet " 2227 COMP PSACH MONDO_0008322 "Disgenet " 2227 COMP "CARPAL TUNNEL SYNDROME 2" MONDO_0030883 "Disgenet " 2227 COMP "Multiple epiphyseal dysplasia" MONDO_0016648 "Disgenet " 2227 COMP "Abnormality of the skeletal system" "Disgenet " 2227 COMP Coxarthroses MONDO_0006629 "Disgenet " 2227 COMP Osteochondrodysplasia MONDO_0005516 "Disgenet " 2227 COMP EDM1 MONDO_0016648 "Disgenet " 2227 COMP "COMP-related skeletal dysplasia" MONDO:0100593 "ClinGen " 2228 COMT "Abuse, Marihuana" MONDO_0005689 "Disgenet " 2228 COMT "Breast Neoplasms" MONDO_0021100 "Disgenet " 2228 COMT "Bipolar Disorders" MONDO_0004985 "Disgenet " 2228 COMT Schizophrenias MONDO_0005090 "Disgenet " 2228 COMT Obesity MONDO_0019182 "Disgenet " 2228 COMT "TEMPOROMANDIBULAR JOINT DISORDER" MONDO_0005473 "Disgenet " 2228 COMT "High blood pressure" MONDO_0005044 "Disgenet " 2228 COMT "Mental Disorder" MONDO_0005084 "Disgenet " 2228 COMT "DiGeorge's syndrome" MONDO_0018923 "Disgenet " 2228 COMT Uremia MONDO_0007008 "Disgenet " 2228 COMT "Affective Disorder, Psychotic" "Disgenet " 2228 COMT "Opioid dependence" MONDO_0005530 "Disgenet " 2228 COMT "Depressive Syndromes" MONDO_0002050 "Disgenet " 2228 COMT Anhedonia "Disgenet " 2228 COMT "Liver cell carcinoma" MONDO_0007256 "Disgenet " 2228 COMT Dysphoria "Disgenet " 2228 COMT Bulimia MONDO_0005452 "Disgenet " 2228 COMT "Attention-Deficit Disorder NOS" MONDO_0005302 "Disgenet " 2228 COMT "Cocaine dependence" MONDO_0005186 "Disgenet " 2228 COMT "Depressions, Unipolar" MONDO_0002050 "Disgenet " 2228 COMT "Affective Disorders" MONDO_0005371 "Disgenet " 2228 COMT Psoriases MONDO_0005083 "Disgenet " 2228 COMT "Abuse, Alcohol" MONDO_0002046 "Disgenet " 2228 COMT "Heroin Dependence" MONDO_0005367 "Disgenet " 2228 COMT Depression MONDO_0002050 "Disgenet " 2228 COMT "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 2228 COMT "Disorders, Panic" MONDO_0005383 "Disgenet " 2228 COMT "Childhood autism" MONDO_0005260 "Disgenet " 2228 COMT "Cancer, Ovarian" MONDO_0008170 "Disgenet " 2228 COMT "Dependence, Nicotine" MONDO_0008575 "Disgenet " 2228 COMT "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 2228 COMT "cannabis use (diagnosis)" "Disgenet " 2228 COMT Fibromyalgia MONDO_0005546 "Disgenet " 2228 COMT Endometrium MONDO_0011962 "Disgenet " 2228 COMT "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 2228 COMT "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 2228 COMT "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 2228 COMT Alcoholism MONDO_0002046 "Disgenet " 2228 COMT "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2228 COMT "Disorders, Obsessive-Compulsive" MONDO_0008114 "Disgenet " 2228 COMT "Depressive neurosis" MONDO_0002050 "Disgenet " 2228 COMT "Cancer, Breast" MONDO_0007254 "Disgenet " 2228 COMT "Bipolar Depression" MONDO_0004985 "Disgenet " 2228 COMT "Abuse, Cannabis" MONDO_0005689 "Disgenet " 2228 COMT "Fibroid Tumor" MONDO_0001572 "Disgenet " 2228 COMT "Abstinence Syndromes, Neonatal" MONDO_0005566 "Disgenet " 2228 COMT "Pathological gambling" MONDO_0011662 "Disgenet " 2228 COMT "Renal cell carcinoma" MONDO_0005549 "Disgenet " 2228 COMT Vitiligo MONDO_0008661 "Disgenet " 223 ADAMTS7 "Coronary Disease" MONDO_0005010 "Disgenet " 223 ADAMTS7 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 2232 COPB2 MCPH19 MONDO_0054716 "Disgenet " 2235 KLF6 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 2235 KLF6 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2235 KLF6 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 2235 KLF6 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 2240 COPS5 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 22407 TMEM106B "Frontotemporal Lobar Degeneration" "Disgenet " 22407 TMEM106B "LEUKODYSTROPHY, HYPOMYELINATING, 16" MONDO_0054791 "Disgenet " 22407 TMEM106B "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 2244 COQ7 COQ10D8 MONDO_0014754 "Disgenet " 22474 MED13 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 22474 MED13 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 225 ADAR "Leigh syndrome" MONDO:0009723 "ClinGen " 225 ADAR "ADAR-related type 1 interferonopathy" MONDO:0700261 "ClinGen " 225 ADAR "ADAR-related type 1 interferonopathy" MONDO:0700261 "ClinGen " 225 ADAR "Aicardi-Goutieres syndrome" MONDO_0018866 "Disgenet " 225 ADAR DSH MONDO_0007483 "Disgenet " 225 ADAR "Cancer, Breast" MONDO_0007254 "Disgenet " 225 ADAR "Breast Neoplasms" MONDO_0021100 "Disgenet " 225 ADAR AGS6 MONDO_0018866 "Disgenet " 2252 CORO1A "severe combined immunodeficiency due to CORO1A deficiency" MONDO:0014168 "ClinGen " 2252 CORO1A IMD8 MONDO_0014168 "Disgenet " 226 ADARB1 Schizophrenias MONDO_0005090 "Disgenet " 226 ADARB1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 2260 COX10 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 2260 COX10 "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3" MONDO_0033635 "Disgenet " 2260 COX10 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 2260 COX10 "Leigh syndrome" MONDO:0009723 "ClinGen " 2260 COX10 "mitochondrial disease" MONDO:0044970 "ClinGen " 2261 COX11 MC4DN23 MONDO_0859520 "Disgenet " 2263 COX15 CEMCOX2 MONDO_0014051 "Disgenet " 2263 COX15 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 2263 COX15 "Leigh syndrome" MONDO:0009723 "ClinGen " 2263 COX15 "mitochondrial disease" MONDO:0044970 "ClinGen " 2263 COX15 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 2265 COX4I1 MC4DN16 MONDO_0033651 "Disgenet " 2265 COX4I1 "mitochondrial disease" MONDO:0044970 "ClinGen " 2265 COX4I1 "Leigh syndrome" MONDO:0009723 "ClinGen " 2267 COX5A "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20" MONDO_0033655 "Disgenet " 2277 COX6A1 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 2277 COX6A1 "mitochondrial disease" MONDO:0044970 "ClinGen " 2277 COX6A1 CMTRID MONDO_0014467 "Disgenet " 2277 COX6A1 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 2279 COX6A2 "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18" MONDO_0033653 "Disgenet " 2279 COX6A2 "mitochondrial disease" MONDO:0044970 "ClinGen " 2292 COX7C Obesity MONDO_0019182 "Disgenet " 22923 GMPPA AAMR MONDO_0010460 "Disgenet " 22923 GMPPA "alacrima, achalasia, and intellectual disability syndrome" MONDO:0014219 "ClinGen " 22932 GMPPB "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14" MONDO_0014140 "Disgenet " 22932 GMPPB MDDGB14 MONDO_0014141 "Disgenet " 22932 GMPPB "myopathy caused by variation in GMPPB" MONDO:0700084 "ClinGen " 22932 GMPPB alpha-Dystroglycanopathies MONDO_0000171 "Disgenet " 22932 GMPPB "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 22932 GMPPB "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14" MONDO_0014142 "Disgenet " 22938 NLRP12 "Autoinflammatory disease" MONDO_0019751 "Disgenet " 22938 NLRP12 FCAS2 MONDO_0012724 "Disgenet " 2294 COX8A "Leigh syndrome" MONDO:0009723 "ClinGen " 2294 COX8A "mitochondrial disease" MONDO:0044970 "ClinGen " 2295 CP "Parkinson Disease" MONDO_0014796 "Disgenet " 2295 CP "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 2295 CP "Iron Overload" "Disgenet " 2295 CP Hemochromatosis MONDO_0001436 "Disgenet " 2295 CP "Disorders of iron metabolism" MONDO_0014225 "Disgenet " 2295 CP "Liver cell carcinoma" MONDO_0007256 "Disgenet " 2295 CP Hemosideroses MONDO_0001436 "Disgenet " 2295 CP "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 2295 CP "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 2295 CP Epilepsies MONDO_0005027 "Disgenet " 2295 CP "Menkes' syndrome" MONDO_0010651 "Disgenet " 2295 CP "Diabetes Mellitus" MONDO_0005015 "Disgenet " 2295 CP "Degeneration, Progressive Lenticular" MONDO_0010200 "Disgenet " 2295 CP ACERULOPLASMINEMIA MONDO_0011426 "Disgenet " 2295 CP "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 2295 CP "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 2295 CP Psoriases MONDO_0005083 "Disgenet " 2295 CP Schizophrenias MONDO_0005090 "Disgenet " 2295 CP "Childhood autism" MONDO_0005260 "Disgenet " 22954 POGLUT1 "autosomal recessive limb-girdle muscular dystrophy" MONDO:0015152 "ClinGen " 22954 POGLUT1 "Dowling-Degos disease" MONDO_0008371 "Disgenet " 22954 POGLUT1 LGMD2Z MONDO_0014977 "Disgenet " 22958 PDLIM7 "Cancer, Breast" MONDO_0007254 "Disgenet " 2296 CPA1 "Chronic pancreatitis" MONDO_0005003 "Disgenet " 2296 CPA1 "Hereditary pancreatitis" MONDO_0008185 "Disgenet " 22962 MED13L "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 22962 MED13L "Great Vessels Transposition" MONDO_0019443 "Disgenet " 22962 MED13L "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 22962 MED13L "Global developmental delay" "Disgenet " 22962 MED13L "Discordant ventriculoarterial connection" MONDO_0013463 "Disgenet " 22962 MED13L "Pierre Robin Syndrome" MONDO_0009869 "Disgenet " 22962 MED13L "Developmental delay" "Disgenet " 22962 MED13L MRFACD MONDO_0014773 "Disgenet " 22962 MED13L "syndromic intellectual disability" MONDO:0000508 "ClinGen " 22962 MED13L "congenital heart disease" MONDO:0005453 "ClinGen " 22973 SBNO1 "Osteoarthritis, Knee" MONDO_0005416 "Disgenet " 22986 COL27A1 STLS MONDO_0014061 "Disgenet " 23 ABAT "GABA-TRANSAMINASE DEFICIENCY" MONDO_0013166 "Disgenet " 23 ABAT "developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 23 ABAT "Gastro Esophageal Reflux" MONDO_0007186 "Disgenet " 23 ABAT "Alzheimer Disease" MONDO_0012630 "Disgenet " 23 ABAT "Childhood autism" MONDO_0005260 "Disgenet " 23 ABAT "Chorea, Huntington" MONDO_0011671 "Disgenet " 2300 CPB2 Obesity MONDO_0019182 "Disgenet " 23015 FAM20A "Amelogenesis Imperfecta" MONDO_0007092 "Disgenet " 23015 FAM20A ERS MONDO_0008771 "Disgenet " 23017 FAM20B "congenital disorder of glycosylation" MONDO:0015286 ClinGen 23019 ZRSR2 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 23025 KLF14 Dyslipidaemia "Disgenet " 23025 KLF14 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 23026 GNPTG "MUCOLIPIDOSIS III GAMMA" MONDO_0009652 "Disgenet " 23026 GNPTG GNPTG-mucolipidosis MONDO:0009652 "ClinGen " 23026 GNPTG Mucolipidoses MONDO_0009738 "Disgenet " 2303 CPE "Lung Neoplasm" MONDO_0002732 "Disgenet " 2303 CPE "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 2303 CPE Obesity MONDO_0019182 "Disgenet " 23038 LMBRD1 "METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE" MONDO_0010183 "Disgenet " 23038 LMBRD1 "methylmalonic aciduria and homocystinuria type cblF" MONDO:0010183 "ClinGen " 23041 PDSS2 "Leigh syndrome" MONDO:0009723 "ClinGen " 23041 PDSS2 COQ10D3 MONDO_0013838 "Disgenet " 23041 PDSS2 "COENZYME Q10 DEFICIENCY" MONDO_0018151 "Disgenet " 23041 PDSS2 Nephropathy MONDO_0005240 "Disgenet " 23041 PDSS2 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 23045 ARMC2 "SPERMATOGENIC FAILURE 38" MONDO_0032748 "Disgenet " 23045 ARMC2 "spermatogenic failure 38" MONDO:0032748 "ClinGen " 23056 ALG3 "ALG3-congenital disorder of glycosylation" MONDO:0010998 "ClinGen " 23056 ALG3 CDGId MONDO_0010998 "Disgenet " 23056 ALG3 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 23060 SESN3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 23066 TRAPPC6B "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy" MONDO:0060640 "ClinGen " 23068 TRAPPC2 Osteochondrodysplasia MONDO_0005516 "Disgenet " 23068 TRAPPC2 "SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED" MONDO_0005516 "Disgenet " 23068 TRAPPC2 "Dysplasia, Spondyloepiphyseal" MONDO_0016761 "Disgenet " 2309 CPLX1 Depression MONDO_0002050 "Disgenet " 2309 CPLX1 "Depressive neurosis" MONDO_0002050 "Disgenet " 2309 CPLX1 EIEE63 MONDO_0033372 "Disgenet " 2309 CPLX1 Schizophrenias MONDO_0005090 "Disgenet " 23090 SLC15A4 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 23096 SLC29A3 Histiocytoses MONDO_0002637 "Disgenet " 23096 SLC29A3 "H syndrome" MONDO:0011273 "ClinGen " 23096 SLC29A3 Hypertrichoses MONDO_0019280 "Disgenet " 23096 SLC29A3 Hypogonadism MONDO_0002146 "Disgenet " 23096 SLC29A3 "Destombes Rosai Dorfman Syndrome" MONDO_0011273 "Disgenet " 23096 SLC29A3 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 23096 SLC29A3 "Faisalabad histiocytosis" MONDO_0011273 "Disgenet " 23096 SLC29A3 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 23096 SLC29A3 DYSOSTEOSCLEROSIS MONDO_0009138 "Disgenet " 23109 FAT4 "VAN MALDERGEM SYNDROME 2" MONDO_0014242 "Disgenet " 23109 FAT4 "FAT4-related neurodevelopmental disorder" MONDO:0100603 "ClinGen " 23109 FAT4 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 23109 FAT4 Melanoma MONDO_0005105 "Disgenet " 23109 FAT4 "Lymphangiectasies and lymphedema Hennekam type" MONDO_0016256 "Disgenet " 23109 FAT4 "Cerebro-facio-articular syndrome of Van Maldergem" MONDO_0017813 "Disgenet " 23140 ANGPTL6 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 23141 TRMT5 "mitochondrial disease" MONDO:0044970 "ClinGen " 23141 TRMT5 COXPD26 MONDO_0014684 "Disgenet " 23147 UNC13D "Familial hemophagocytic lymphohistiocytosis" MONDO_0009974 "Disgenet " 23147 UNC13D "familial hemophagocytic lymphohistiocytosis 3" MONDO:0012146 "ClinGen " 23147 UNC13D FHL3 MONDO_0012146 "Disgenet " 23151 FERMT3 "Albers Schoenberg Disease" MONDO_0012859 "Disgenet " 23151 FERMT3 "Congenital leukocyte adherence deficiency" MONDO_0017570 "Disgenet " 23151 FERMT3 "leukocyte adhesion deficiency 3" MONDO:0013016 "ClinGen " 23151 FERMT3 LAD3 MONDO_0013016 "Disgenet " 23151 FERMT3 LAD MONDO_0007293 "Disgenet " 23156 U2AF2 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 23157 ALG6 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 23157 ALG6 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic" MONDO_0011291 "Disgenet " 23157 ALG6 "cystic kidney disease" MONDO:0002473 "ClinGen " 23157 ALG6 "ALG6-congenital disorder of glycosylation 1C" MONDO:0011291 "ClinGen " 23159 ALG2 "ALG2-congenital disorder of glycosylation" MONDO:0011933 "ClinGen " 23159 ALG2 CMSTA3 MONDO_0014543 "Disgenet " 23159 ALG2 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii" MONDO_0011933 "Disgenet " 23159 ALG2 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 23159 ALG2 "CONGEN MYASTHENIA GRAVIS" MONDO_0018940 "Disgenet " 23162 ALG10 "congenital disorder of glycosylation" MONDO:0015286 "ClinGen " 23166 PNPT1 "Leigh syndrome" MONDO:0009723 "ClinGen " 23166 PNPT1 DFNB70 MONDO_0013978 "Disgenet " 23166 PNPT1 "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13" MONDO_0013977 "Disgenet " 23166 PNPT1 "SPINOCEREBELLAR ATAXIA 25" MONDO_0012103 "Disgenet " 23168 FANCM "FANCM Fanconi-like genomic instability disorder" MONDO:0100578 "ClinGen " 23168 FANCM "hereditary breast carcinoma" MONDO:0016419 "ClinGen " 23168 FANCM "Fanconi anemia" MONDO:0019391 "ClinGen " 23168 FANCM "Fanconi Anemia" MONDO_0019391 "Disgenet " 23168 FANCM "Hereditary Breast and Ovarian Cancer Syndrome" MONDO_0003582 "Disgenet " 23168 FANCM "familial cancer of breast" MONDO_0016419 "Disgenet " 23168 FANCM Azoospermia MONDO_0100459 "Disgenet " 23177 KEAP1 "Malignant neoplasm of gallbladder" MONDO_0005411 "Disgenet " 23177 KEAP1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 23177 KEAP1 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 23177 KEAP1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 23177 KEAP1 "Gallbladder Neoplasm" MONDO_0005411 "Disgenet " 23177 KEAP1 "Cancer, Breast" MONDO_0007254 "Disgenet " 23177 KEAP1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 23177 KEAP1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 23177 KEAP1 FMNG "Disgenet " 23194 THAP11 "methylmalonic aciduria and homocystinuria" MONDO:0016826 "ClinGen " 23198 CYP4V2 "Bietti crystalline corneoretinal dystrophy" MONDO:0008865 "ClinGen " 23198 CYP4V2 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 23198 CYP4V2 "BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY" MONDO_0008865 "Disgenet " 232 ADCY1 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 23204 KIRREL3 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 23204 KIRREL3 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 23204 KIRREL3 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 2321 CPOX HCP MONDO_0007369 "Disgenet " 2321 CPOX Harderoporphyria MONDO_0030048 "Disgenet " 2321 CPOX "CPOX-related hereditary coproporphyria" MONDO:0800180 "ClinGen " 2321 CPOX "Porphyria cutanea tarda" MONDO_0008296 "Disgenet " 23212 MYH14 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 23212 MYH14 DFNA4 MONDO_0010915 "Disgenet " 23212 MYH14 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 23212 MYH14 "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 23212 MYH14 Hypoacusis MONDO_0005365 "Disgenet " 23212 MYH14 "Isolated Deafness" MONDO_0019497 "Disgenet " 23212 MYH14 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 23213 PIGW "hyperphosphatasia with intellectual disability syndrome 5" MONDO:0014457 "ClinGen " 23213 PIGW HPMRS5 MONDO_0014457 "Disgenet " 23214 EXOC7 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 23215 PIGO "Hyperphosphatasia with Mental Retardation" MONDO_0016596 "Disgenet " 23215 PIGO HPMRS2 MONDO_0013882 "Disgenet " 23215 PIGO "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 23216 ZNF469 Keratoconus MONDO_0015486 "Disgenet " 23216 ZNF469 "Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility" MONDO_0024543 "Disgenet " 23217 GKN1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 23222 SPATA13 "primary angle-closure glaucoma" MONDO:0001868 "ClinGen " 23228 CPAMD8 "anterior segment dysgenesis 8" MONDO:0015017 "ClinGen " 23228 CPAMD8 "ANTERIOR SEGMENT DYSGENESIS 8" MONDO_0015017 "Disgenet " 23228 CPAMD8 ASMD MONDO_0019503 "Disgenet " 2323 CPS1 "CARBAMOYL PHOSPHATE SYNTHASE I DEFIC DIS" MONDO_0009376 "Disgenet " 2323 CPS1 "carbamoyl phosphate synthetase I deficiency disease" MONDO:0009376 "ClinGen " 2323 CPS1 Coma "Disgenet " 2323 CPS1 HYPERAMMONEMIA "Disgenet " 23246 MYPN "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 23246 MYPN "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 23246 MYPN CMD1A MONDO_0005021 "Disgenet " 23246 MYPN "Myopathies, Nemaline" MONDO_0018958 "Disgenet " 23246 MYPN NEM11 MONDO_0015023 "Disgenet " 23246 MYPN "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 23246 MYPN "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 23246 MYPN "MYPN-related myopathy" MONDO:0015023 "ClinGen " 23246 MYPN "Cap Disease" MONDO_0015753 "Disgenet " 23246 MYPN "Restrictive cardiomyopathy" MONDO_0005201 "Disgenet " 23246 MYPN Cardiomyopathy MONDO_0004994 "Disgenet " 23246 MYPN "CARDIOMYOPATHY, DILATED, 1KK" MONDO_0014100 "Disgenet " 23247 DNAL1 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 23247 DNAL1 CILD16 MONDO_0013525 "Disgenet " 23247 DNAL1 "primary ciliary dyskinesia 16" MONDO:0013525 "ClinGen " 2328 CPT1A "carnitine palmitoyl transferase 1A deficiency" MONDO:0009705 "ClinGen " 2328 CPT1A "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 2328 CPT1A "CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY" MONDO_0009705 "Disgenet " 2328 CPT1A "Disease, Metabolic" MONDO_0005066 "Disgenet " 2328 CPT1A "Breast Neoplasms" MONDO_0021100 "Disgenet " 2328 CPT1A "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 2328 CPT1A "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 2328 CPT1A "Diabetes Mellitus" MONDO_0005015 "Disgenet " 2328 CPT1A "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 23282 MUC20 "Bergers Disease" MONDO_0005342 "Disgenet " 23287 ETHE1 "Leigh syndrome" MONDO:0009723 "ClinGen " 23287 ETHE1 "ENCEPHALOPATHY, ETHYLMALONIC" MONDO_0011229 "Disgenet " 2329 CPT1B "inherited fatty acid metabolism disorder" MONDO:0037858 "ClinGen " 2329 CPT1B Narcolepsy MONDO_0019371 "Disgenet " 23292 NANOS2 "Infertility, Male" MONDO_0005372 "Disgenet " 23297 KCTD15 Obesity MONDO_0019182 "Disgenet " 233 ADCY2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 2330 CPT2 Encephalopathy MONDO_0005560 "Disgenet " 2330 CPT2 "carnitine palmitoyltransferase deficiency 2" MONDO_0015515 "Disgenet " 2330 CPT2 "CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE" MONDO_0010914 "Disgenet " 2330 CPT2 "carnitine palmitoyltransferase II deficiency" MONDO:0015515 "ClinGen " 2330 CPT2 Myopathy MONDO_0003939 "Disgenet " 23303 TSPAN14 "Alzheimer Disease" MONDO_0012630 "Disgenet " 23319 NTNG1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 23319 NTNG1 Schizophrenias MONDO_0005090 "Disgenet " 23319 NTNG1 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 23326 PXK "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 23326 PXK "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 23338 ACBD5 "acyl-CoA binding domain containing protein 5 deficiency" MONDO:0100112 "ClinGen " 2334 CR1 "Infection, Plasmodium" MONDO_0005136 "Disgenet " 23352 PIBF1 JBTS33 MONDO_0033311 "Disgenet " 23352 PIBF1 ciliopathy MONDO:0005308 "ClinGen " 23352 PIBF1 CPD4 MONDO_0018772 "Disgenet " 23354 CCNY "Ulcerative colitis" MONDO_0005101 "Disgenet " 2336 CR2 "Common Variable Immunodeficiency" MONDO_0015517 "Disgenet " 2336 CR2 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 2336 CR2 "IMMUNODEFICIENCY, COMMON VARIABLE, 7" MONDO_0013862 "Disgenet " 2336 CR2 "immunodeficiency, common variable, 7" MONDO:0013862 "ClinGen " 2339 CRABP2 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 23399 FREM1 "Bifid nose" MONDO_0000110 "Disgenet " 23399 FREM1 BNAR MONDO_0012165 "Disgenet " 23399 FREM1 "Congenital diaphragmatic hernia" MONDO_0007719 "Disgenet " 23399 FREM1 "Diaphragmatic Hernias" MONDO_0005711 "Disgenet " 23399 FREM1 trigonocephaly MONDO_0015469 "Disgenet " 23399 FREM1 MOTA MONDO_0009560 "Disgenet " 234 ADCY3 "Morbid Obesities" MONDO_0005139 "Disgenet " 234 ADCY3 Obesity MONDO_0019182 "Disgenet " 2340 CRADD "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 2340 CRADD MRT34 MONDO_0013785 "Disgenet " 2340 CRADD "syndromic intellectual disability" MONDO:0000508 "ClinGen " 23405 LRMDA OCA7 MONDO_0014070 "Disgenet " 23406 DOLK "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 23406 DOLK CDGIm MONDO_0012556 "Disgenet " 23406 DOLK "DK1-congenital disorder of glycosylation" MONDO:0012556 "ClinGen " 23419 KIFBP Microcephalies MONDO_0001149 "Disgenet " 23419 KIFBP "Goldberg-Shprintzen syndrome" MONDO_0012280 "Disgenet " 23419 KIFBP "Goldberg-Shprintzen syndrome" MONDO:0012280 "ClinGen " 2342 CRAT "Neurodegeneration with brain iron accumulation (NBIA)" MONDO_0018307 "Disgenet " 2345 CREB1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 2345 CREB1 Alcoholism MONDO_0002046 "Disgenet " 2345 CREB1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 2345 CREB1 "Depressive neurosis" MONDO_0002050 "Disgenet " 2345 CREB1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 2345 CREB1 "Angiomatoid Malignant Fibrous Histiocytoma" MONDO_0012809 "Disgenet " 2345 CREB1 "Affective Disorders" MONDO_0005371 "Disgenet " 2345 CREB1 "Sarcoma, Clear Cell" MONDO_0002926 "Disgenet " 2345 CREB1 Schizophrenias MONDO_0005090 "Disgenet " 2345 CREB1 "Parkinson Disease" MONDO_0014796 "Disgenet " 2345 CREB1 "Cocaine dependence" MONDO_0005186 "Disgenet " 2345 CREB1 Depression MONDO_0002050 "Disgenet " 2348 CREBBP "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 2348 CREBBP "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 2348 CREBBP "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 2348 CREBBP "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 2348 CREBBP "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 2348 CREBBP "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 2348 CREBBP "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 2348 CREBBP "Liver cell carcinoma" MONDO_0007256 "Disgenet " 2348 CREBBP "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 2348 CREBBP "Rubinstein-Taybi syndrome" MONDO:0019188 "ClinGen " 2348 CREBBP "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 2348 CREBBP "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 2348 CREBBP "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2348 CREBBP "Brill Symmers Disease" MONDO_0018906 "Disgenet " 2348 CREBBP "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 2348 CREBBP "Rubinstein Taybi Syndrome" MONDO_0008800 "Disgenet " 2348 CREBBP RSTS1 MONDO_0019188 "Disgenet " 2348 CREBBP "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 2348 CREBBP Medulloblastoma MONDO_0007959 "Disgenet " 2348 CREBBP "Menke-Hennekam syndrome" MONDO_0020774 "Disgenet " 2348 CREBBP "Childhood autism" MONDO_0005260 "Disgenet " 2348 CREBBP ALL MONDO_0004967 "Disgenet " 23503 SLITRK6 "high myopia-sensorineural deafness syndrome" MONDO:0009082 "ClinGen " 23503 SLITRK6 DFNMYP MONDO_0009082 "Disgenet " 23505 BMS1 "Aplasia cutis congenita" MONDO_0019287 "Disgenet " 23516 BORCS7 Schizophrenias MONDO_0005090 "Disgenet " 23537 DHTKD1 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q" MONDO_0014012 "Disgenet " 23537 DHTKD1 "2-aminoadipic 2-oxoadipic aciduria" MONDO:0008774 "ClinGen " 23537 DHTKD1 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 23537 DHTKD1 AMOXAD MONDO_0008774 "Disgenet " 2356 CRHBP "Depressive neurosis" MONDO_0002050 "Disgenet " 2356 CRHBP Depression MONDO_0002050 "Disgenet " 2356 CRHBP "Affective Disorders" MONDO_0005371 "Disgenet " 2356 CRHBP Alcoholism MONDO_0002046 "Disgenet " 2356 CRHBP "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 2356 CRHBP "Depressions, Unipolar" MONDO_0002050 "Disgenet " 2357 CRHR1 Psychosis MONDO_0005485 "Disgenet " 2357 CRHR1 "Affective Disorders" MONDO_0005371 "Disgenet " 2357 CRHR1 Obesity MONDO_0019182 "Disgenet " 2357 CRHR1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 2357 CRHR1 "Unspecified nonorganic psychosis" "Disgenet " 2357 CRHR1 COPD MONDO_0005002 "Disgenet " 2357 CRHR1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 2357 CRHR1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 2357 CRHR1 Alcoholism MONDO_0002046 "Disgenet " 2357 CRHR1 Asthma MONDO_0004979 "Disgenet " 2357 CRHR1 "Depressive neurosis" MONDO_0002050 "Disgenet " 2357 CRHR1 "Anxiety Disorder" MONDO_0005618 "Disgenet " 2357 CRHR1 Depression MONDO_0002050 "Disgenet " 2357 CRHR1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 23573 MORC2 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 23573 MORC2 "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z" MONDO_0014736 "Disgenet " 23573 MORC2 "DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY" MONDO_0030835 "Disgenet " 23573 MORC2 "Leigh syndrome" MONDO:0009723 "ClinGen " 23573 MORC2 "Charcot-Marie-Tooth disease axonal type 2Z" MONDO:0014736 "ClinGen " 23573 MORC2 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 23575 ANKRD17 "syndromic complex neurodevelopmental disorder" MONDO:0800439 "ClinGen " 23594 VPS13C "Parkinson Disease" MONDO_0014796 "Disgenet " 23594 VPS13C "Early onset Parkinson's disease" MONDO_0017279 "Disgenet " 23594 VPS13C "PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET" MONDO_0014796 "Disgenet " 23595 VPS13D "Ataxia, Spinocerebellar" MONDO_0000437 "Disgenet " 23595 VPS13D SCA4 MONDO_0010847 "Disgenet " 23595 VPS13D "SCA24, FORMERLY" MONDO_0011811 "Disgenet " 23595 VPS13D "Leigh syndrome" MONDO:0009723 "ClinGen " 236 ADCY5 Depression MONDO_0002050 "Disgenet " 236 ADCY5 "Dyskinesia, Familial, with Facial Myokymia" MONDO_0800028 "Disgenet " 236 ADCY5 "Depressive neurosis" MONDO_0002050 "Disgenet " 236 ADCY5 BHC MONDO_0001595 "Disgenet " 236 ADCY5 "dyskinesia with orofacial involvement" MONDO:0031115 "ClinGen " 236 ADCY5 Cardiomyopathy MONDO_0004994 "Disgenet " 236 ADCY5 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 23614 ST6GALNAC1 Schizophrenias MONDO_0005090 "Disgenet " 2363 CRKL "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 2363 CRKL "congenital heart disease" MONDO:0005453 "ClinGen " 2363 CRKL "DiGeorge's syndrome" MONDO_0018923 "Disgenet " 2363 CRKL "congenital heart disorder" MONDO_0005453 "Disgenet " 23639 SKIC3 "Trichohepatoenteric Syndrome" MONDO_0009105 "Disgenet " 23639 SKIC3 "trichohepatoenteric syndrome 1" MONDO:0024541 "ClinGen " 23639 SKIC3 "TRICHOHEPATOENTERIC SYNDROME 1" MONDO_0009105 "Disgenet " 2364 CRLF1 "Crisponi syndrome" MONDO_0010091 "Disgenet " 2364 CRLF1 CISS1 MONDO_0010091 "Disgenet " 2365 CRMP1 Schizophrenias MONDO_0005090 "Disgenet " 23656 TIMM50 "3-methylglutaconic aciduria type 9" MONDO:0044724 "ClinGen " 23656 TIMM50 "3-@METHYLGLUTACONIC ACIDURIA, TYPE IX" MONDO_0044724 "Disgenet " 23657 GNE "MYOPATHY, AUTOPHAGIC VACUOLAR, INFANTILE-ONSET" MONDO_0010684 "Disgenet " 23657 GNE "NONAKA MYOPATHY" MONDO_0011603 "Disgenet " 23657 GNE Sialuria MONDO_0011449 "Disgenet " 23657 GNE "macrothrombocytopenia, isolated" MONDO:0031447 "ClinGen " 23657 GNE Thrombocytopenia MONDO_0002049 "Disgenet " 23657 GNE "Inclusion body myopathy quadriceps sparing" MONDO_0011603 "Disgenet " 23657 GNE "Inclusion Body Myositides" MONDO_0007827 "Disgenet " 23663 VKORC1 "Venous Thromboembolism" MONDO_0005399 "Disgenet " 23663 VKORC1 "VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2" MONDO_0011837 "Disgenet " 23663 VKORC1 "vitamin K-dependent clotting factors, combined deficiency of, type 2" MONDO:0011837 "ClinGen " 23663 VKORC1 "Blood Coagulation Disorder" MONDO_0001531 "Disgenet " 23663 VKORC1 "Coronary Disease" MONDO_0005010 "Disgenet " 23663 VKORC1 "Diseases, Vascular" MONDO_0005385 "Disgenet " 23663 VKORC1 "Cerebrovascular accident" MONDO_0005098 "Disgenet " 23664 SH3PXD2A Schizophrenias MONDO_0005090 "Disgenet " 23664 SH3PXD2A "Atrial Fibrillation" MONDO_0004981 "Disgenet " 23664 SH3PXD2A "Cerebrovascular accident" MONDO_0005098 "Disgenet " 23690 GSDMB "Cancer, Breast" MONDO_0007254 "Disgenet " 23692 ACKR3 Carcinoma MONDO_0004993 "Disgenet " 23692 ACKR3 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 23692 ACKR3 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 23694 GPR161 Medulloblastoma MONDO_0007959 "Disgenet " 23694 GPR161 "Pituitary Stalk Interruption Syndrome" MONDO_0019828 "Disgenet " 23695 DIXDC1 Depression MONDO_0002050 "Disgenet " 23695 DIXDC1 "Anxiety Disorder" MONDO_0005618 "Disgenet " 23695 DIXDC1 Schizophrenias MONDO_0005090 "Disgenet " 23695 DIXDC1 "Childhood autism" MONDO_0005260 "Disgenet " 23696 TIPARP "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 23697 PHLDB1 Gliomas MONDO_0021042 "Disgenet " 23700 TTC12 Alcoholism MONDO_0002046 "Disgenet " 23700 TTC12 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 23700 TTC12 "ciliary dyskinesia, primary, 45" MONDO:0032924 "ClinGen " 23700 TTC12 "CILIARY DYSKINESIA, PRIMARY, 45" MONDO_0032924 "Disgenet " 23719 PGAP3 "hyperphosphatasia with intellectual disability syndrome 4" MONDO:0014318 "ClinGen " 23719 PGAP3 HPMRS4 MONDO_0014318 "Disgenet " 23719 PGAP3 "Hyperphosphatasia with Mental Retardation" MONDO_0016596 "Disgenet " 2372 MED23 "syndromic intellectual disability" MONDO:0000508 "ClinGen " 2372 MED23 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 2372 MED23 MRT18 MONDO_0013651 "Disgenet " 23734 PTF1A "PANCREATIC AND CEREBELLAR AGENESIS" MONDO_0012192 "Disgenet " 2375 MED17 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 2375 MED17 "MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY" MONDO_0013351 "Disgenet " 2377 MED27 "neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia" MONDO:0859137 "ClinGen " 2377 MED27 "NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA" MONDO_0859137 "Disgenet " 23785 PIKFYVE "Fleck corneal dystrophy" MONDO_0007376 "Disgenet " 23786 PIP4K2C Schizophrenias MONDO_0005090 "Disgenet " 2379 CRTAP "OSTEOGENESIS IMPERFECTA, TYPE III" MONDO_0009804 "Disgenet " 2379 CRTAP OIC MONDO_0008147 "Disgenet " 2379 CRTAP "OSTEOGENESIS IMPERFECTA, TYPE VII" MONDO_0012536 "Disgenet " 2379 CRTAP "Osteogenesis Imperfecta" MONDO_0012591 "Disgenet " 23791 INF2 Nephropathy MONDO_0005240 "Disgenet " 23791 INF2 CMTDIE MONDO_0013758 "Disgenet " 23791 INF2 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 23791 INF2 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 23791 INF2 "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 23791 INF2 "FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5" MONDO_0013191 "Disgenet " 23791 INF2 "Charcot-Marie-Tooth disease dominant intermediate E" MONDO:0013758 "ClinGen " 23792 PLD4 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 23794 PACS2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 23794 PACS2 "developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 23794 PACS2 EIEE66 MONDO_0054845 "Disgenet " 23794 PACS2 "Early infantile epileptic encephalopathy with burst-suppression" MONDO_0100062 "Disgenet " 23801 SIPA1L3 "Congenital cataract" MONDO_0008925 "Disgenet " 23803 ADNP2 Schizophrenias MONDO_0005090 "Disgenet " 2383 CRX "LEBER CONGENITAL AMAUROSIS 7" MONDO_0013449 "Disgenet " 2383 CRX "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 2383 CRX "Macular dystrophy" "Disgenet " 2383 CRX LCA1 MONDO_0018998 "Disgenet " 2383 CRX "FUNDUS FLAVIMACULATUS" MONDO_0019353 "Disgenet " 2383 CRX "Retinal dystrophy" MONDO_0019118 "Disgenet " 2383 CRX "Autosomal dominant retinitis pigmentosa" "Disgenet " 2383 CRX "Leber congenital amaurosis" MONDO_0018998 "Disgenet " 2383 CRX "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 2383 CRX CORD MONDO_0007362 "Disgenet " 2383 CRX "cone-rod dystrophy 2" MONDO:0007362 "ClinGen " 2384 CRY1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 2384 CRY1 "Depressive neurosis" MONDO_0002050 "Disgenet " 2384 CRY1 Depression MONDO_0002050 "Disgenet " 2384 CRY1 "Delayed Sleep Phase Syndrome" MONDO_0024361 "Disgenet " 2384 CRY1 "Attention Deficit Disorder with Hyperactivity" MONDO_0100518 "Disgenet " 23845 SLX4 "familial ovarian cancer" MONDO:0016248 "ClinGen " 23845 SLX4 "Fanconi anemia complementation group P" MONDO:0013499 "ClinGen " 23845 SLX4 "hereditary breast carcinoma" MONDO:0016419 "ClinGen " 23845 SLX4 "FANCONI ANEMIA, COMPLEMENTATION GROUP P" MONDO_0013499 "Disgenet " 23845 SLX4 "familial cancer of breast" MONDO_0016419 "Disgenet " 23845 SLX4 "Cancer, Breast" MONDO_0007254 "Disgenet " 23845 SLX4 "Fanconi Anemia" MONDO_0019391 "Disgenet " 2385 CRY2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 2385 CRY2 Depression MONDO_0002050 "Disgenet " 2385 CRY2 "Affective Disorder, Seasonal" MONDO_0000694 "Disgenet " 2385 CRY2 "Depressive neurosis" MONDO_0002050 "Disgenet " 2389 CRYAB "MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED" MONDO_0013472 "Disgenet " 2389 CRYAB "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 2389 CRYAB Cardiomyopathy MONDO_0004994 "Disgenet " 2389 CRYAB "Posterior polar cataracts" "Disgenet " 2389 CRYAB "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2389 CRYAB CTRCT16 MONDO_0013411 "Disgenet " 2389 CRYAB "Congenital cataract" MONDO_0008925 "Disgenet " 2389 CRYAB "CARDIOMYOPATHY, DILATED, 1II" MONDO_0014073 "Disgenet " 2389 CRYAB "Myofibrillar myopathy" MONDO_0018943 "Disgenet " 2389 CRYAB "Degenerative disease of nervous system, unspecified" MONDO_0005559 "Disgenet " 2389 CRYAB "Myopathy, Cardioskeletal, Desmin-Related, with Cataract" MONDO_0012130 "Disgenet " 2389 CRYAB "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 239 ADCY8 "Bipolar Disorders" MONDO_0004985 "Disgenet " 239 ADCY8 "Affective Disorders" MONDO_0005371 "Disgenet " 2397 CRYBB1 "Congenital cataract" MONDO_0008925 "Disgenet " 2397 CRYBB1 "CATARACT 17, MULTIPLE TYPES" MONDO_0012688 "Disgenet " 23987 NDUFA12 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 23987 NDUFA12 "Leigh syndrome" MONDO:0009723 "ClinGen " 23989 ACCS "Cancer, Breast" MONDO_0007254 "Disgenet " 24008 MIA3 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 24008 MIA3 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 24035 APPL1 MODY14 MONDO_0014674 "Disgenet " 24035 APPL1 "monogenic diabetes" MONDO:0015967 "ClinGen " 24035 APPL1 "Cancer, Breast" MONDO_0007254 "Disgenet " 24035 APPL1 "Maturity onset diabetes mellitus in young" MONDO_0018911 "Disgenet " 24036 APC2 "lissencephaly spectrum disorders" MONDO:0018838 "ClinGen " 24036 APC2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 24036 APC2 "Cancer, Breast" MONDO_0007254 "Disgenet " 24036 APC2 "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10" MONDO_0032866 "Disgenet " 24036 APC2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 24039 CLMP "CONGENITAL SHORT BOWEL SYNDROME" MONDO_0002803 "Disgenet " 24040 ADIPOR1 "Cancer, Breast" MONDO_0007254 "Disgenet " 24040 ADIPOR1 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 24041 ADIPOR2 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 24041 ADIPOR2 "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 24041 ADIPOR2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 24042 WWTR1 "Hemangioendothelioma, Epithelioid" MONDO_0015523 "Disgenet " 24046 ARL11 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 24046 ARL11 "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 24063 GALM "GALACTOSE MUTAROTASE DEFICIENCY" MONDO_0030105 "Disgenet " 24063 GALM "galactosemia 4" MONDO:0030105 "ClinGen " 24063 GALM Galactosemias MONDO_0018116 "Disgenet " 24066 CCL4L2 "HIV infection" MONDO_0005109 "Disgenet " 24080 APH1B "Alzheimer Disease" MONDO_0012630 "Disgenet " 24086 A1CF Gout MONDO_0005393 "Disgenet " 24097 ARAP3 "Cancer, Breast" MONDO_0007254 "Disgenet " 241 ADCYAP1 Schizophrenias MONDO_0005090 "Disgenet " 241 ADCYAP1 "Depressive neurosis" MONDO_0002050 "Disgenet " 241 ADCYAP1 Depression MONDO_0002050 "Disgenet " 241 ADCYAP1 Cardiomyopathy MONDO_0004994 "Disgenet " 241 ADCYAP1 neurotoxicity MONDO_0005527 "Disgenet " 241 ADCYAP1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 24102 ARSG "Usher syndrome" MONDO_0019501 "Disgenet " 2411 CRYGD CCA1 MONDO_0020374 "Disgenet " 2411 CRYGD CTRCT4 MONDO_0007281 "Disgenet " 2411 CRYGD "Coralliform cataract" "Disgenet " 2411 CRYGD Cataracts MONDO_0005129 "Disgenet " 2411 CRYGD "Congenital cataract" MONDO_0008925 "Disgenet " 24113 ATP13A3 "pulmonary arterial hypertension" MONDO:0015924 "ClinGen " 24113 ATP13A3 "Pulmonary arterial hypertension" MONDO_0015924 "Disgenet " 24116 RNASEH2C "Aicardi-Goutieres syndrome" MONDO_0018866 "Disgenet " 24116 RNASEH2C "AICARDI-GOUTIERES SYNDROME 3" MONDO_0012471 "Disgenet " 24116 RNASEH2C "RNASEH2C-related type 1 interferonopathy" MONDO:0700258 "ClinGen " 24123 B9D1 ciliopathy MONDO:0005308 "ClinGen " 24123 B9D1 "Meckel-Gruber syndrome" MONDO_0018921 "Disgenet " 24123 B9D1 CPD4 MONDO_0018772 "Disgenet " 24123 B9D1 "JOUBERT SYNDROME 27" MONDO_0014927 "Disgenet " 24124 ACTL6A "ACTL6A-related BAFopathy" MONDO:0700121 "ClinGen " 24132 BMF "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 24152 RSRC1 Schizophrenias MONDO_0005090 "Disgenet " 24154 BMPER DIAPHANOSPONDYLODYSOSTOSIS MONDO_0011946 "Disgenet " 24156 PHF21A "INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES" MONDO_0032883 "Disgenet " 24156 PHF21A "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 24156 PHF21A P11pDS MONDO_0011022 "Disgenet " 24156 PHF21A "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 24160 BEAN1 "SPINOCEREBELLAR ATAXIA 31" MONDO_0007296 "Disgenet " 2417 CRYGS "Congenital cataract" MONDO_0008925 "Disgenet " 2418 CRYM DFNA40 MONDO_0014603 "Disgenet " 2418 CRYM "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 24190 CAMK2N1 "OVARIAN CANCER, EPITHELIAL" MONDO_0018364 "Disgenet " 242 ADCYAP1R1 Asthma MONDO_0004979 "Disgenet " 24201 RPRM "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 24212 CISD2 "Syndrome, Wolfram" MONDO_0018105 "Disgenet " 24212 CISD2 WFS2 MONDO_0011502 "Disgenet " 24212 CISD2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 24212 CISD2 "Wolfram syndrome" MONDO:0018105 "ClinGen " 24219 POLR1G "Multiple Myeloma" MONDO_0009693 "Disgenet " 2422 CS Obesity MONDO_0019182 "Disgenet " 24229 CIDEC FPLD5 MONDO_0014098 "Disgenet " 24229 CIDEC "Koberling Dunnigan Syndrome" MONDO_0020088 "Disgenet " 24245 DRC1 "primary ciliary dyskinesia 21" MONDO:0014123 "ClinGen " 24245 DRC1 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 24247 GLYCTK "D-GLYCERIC ACIDURIA" MONDO_0009070 "Disgenet " 24249 YARS2 "MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA" MONDO_0000863 "Disgenet " 24249 YARS2 "MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2" MONDO_0013307 "Disgenet " 24249 YARS2 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 24259 TPRKB "Microcephaly nephrosis syndrome" MONDO_0009627 "Disgenet " 24259 TPRKB "GALLOWAY-MOWAT SYNDROME 5" MONDO_0033009 "Disgenet " 24265 PTRH2 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 24268 ASCC1 Arthrogryposes MONDO_0015168 "Disgenet " 24268 ASCC1 "Barrett Esophagus" MONDO_0013662 "Disgenet " 24270 DPH5 "NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES" MONDO_0859295 "Disgenet " 24270 DPH5 "DPH5-related diphthamide-deficiency syndrome" MONDO:0100503 "ClinGen " 24276 SAMM50 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 24276 SAMM50 "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 24281 OTUD6B "syndromic intellectual disability" MONDO:0000508 "ClinGen " 24281 OTUD6B "INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES" MONDO_0044319 "Disgenet " 24281 OTUD6B "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 24281 OTUD6B "dysmorphic features" "Disgenet " 24283 KMT5B MRD51 MONDO_0030917 "Disgenet " 24283 KMT5B "Global developmental delay" "Disgenet " 24283 KMT5B "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 24283 KMT5B "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 24283 KMT5B "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 24283 KMT5B "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 24284 TRAPPC12 "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY" MONDO_0044696 "Disgenet " 24287 CHMP1B "Bipolar Disorders" MONDO_0004985 "Disgenet " 24288 CHDH "Congestive heart failure" MONDO_0005252 "Disgenet " 24288 CHDH "Heart failure" MONDO_0005252 "Disgenet " 24290 CSGALNACT1 "skeletal dysplasia, mild, with joint laxity and advanced bone age" MONDO:0030029 "ClinGen " 243 ADD1 "Essential hypertension" MONDO_0007781 "Disgenet " 243 ADD1 "High blood pressure" MONDO_0005044 "Disgenet " 243 ADD1 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 243 ADD1 Atherosclerosis MONDO_0005311 "Disgenet " 243 ADD1 Gastroschisis MONDO_0009264 "Disgenet " 243 ADD1 "Bergers Disease" MONDO_0005342 "Disgenet " 24308 CLPTM1L "Cervical Neoplasm" MONDO_0021230 "Disgenet " 24308 CLPTM1L "Lung Neoplasm" MONDO_0002732 "Disgenet " 24308 CLPTM1L "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 24308 CLPTM1L "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 24308 CLPTM1L "malignant squamous cell neoplasm of oral cavity (diagnosis)" MONDO_0004958 "Disgenet " 24308 CLPTM1L "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 24308 CLPTM1L "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 2431 CSE1L CRC MONDO_0005335 "Disgenet " 24316 TACO1 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 24316 TACO1 "Leigh syndrome" MONDO:0009723 "ClinGen " 24316 TACO1 "mitochondrial disease" MONDO:0044970 "ClinGen " 24316 TACO1 "Deficiency of cytochrome a3" MONDO_0009068 "Disgenet " 24319 CMIP "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 2432 CSF1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 2432 CSF1 "PAGET'S BONE DISEASE" MONDO_0005382 "Disgenet " 24323 CARTPT "Cocaine abuse" MONDO_0004456 "Disgenet " 24323 CARTPT "Depressive neurosis" MONDO_0002050 "Disgenet " 24323 CARTPT Depression MONDO_0002050 "Disgenet " 24323 CARTPT Alcoholism MONDO_0002046 "Disgenet " 24323 CARTPT Obesity MONDO_0019182 "Disgenet " 24323 CARTPT "Anxiety Disorder" MONDO_0005618 "Disgenet " 2433 CSF1R "Disorder, Myeloproliferative" MONDO_0020076 "Disgenet " 2433 CSF1R GIST MONDO_0011719 "Disgenet " 2433 CSF1R "Hematologic Neoplasm" MONDO_0044881 "Disgenet " 2433 CSF1R Leukoencephalopathy "Disgenet " 2433 CSF1R Parkinsonism MONDO_0021095 "Disgenet " 2433 CSF1R "Liver cell carcinoma" MONDO_0007256 "Disgenet " 2433 CSF1R "Diabetes Mellitus" MONDO_0005015 "Disgenet " 2433 CSF1R "Frontotemporal dementia" MONDO_0017276 "Disgenet " 2433 CSF1R "Renal cell carcinoma" MONDO_0005549 "Disgenet " 2433 CSF1R "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 2433 CSF1R "Breast Neoplasms" MONDO_0021100 "Disgenet " 2433 CSF1R "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 2433 CSF1R "Alzheimer Disease" MONDO_0012630 "Disgenet " 2433 CSF1R GPSC MONDO_0800027 "Disgenet " 2433 CSF1R "LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 1" MONDO_0030796 "Disgenet " 2433 CSF1R "BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS" MONDO_0032772 "Disgenet " 24338 C1GALT1C1 "Galactosyltransferase Deficiency" MONDO_0010381 "Disgenet " 24338 C1GALT1C1 "hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature" MONDO:0957495 "ClinGen " 2435 CSF2RA "Pulmonary Alveolar Proteinosis" MONDO_0001437 "Disgenet " 2435 CSF2RA "Pulmonary alveolar proteinosis, congenital" MONDO_0012580 "Disgenet " 2435 CSF2RA Schizophrenias MONDO_0005090 "Disgenet " 24350 CCDC68 Schizophrenias MONDO_0005090 "Disgenet " 24351 PHRF1 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 24352 TNS4 CRC MONDO_0005335 "Disgenet " 24356 CLEC1B "Liver cell carcinoma" MONDO_0007256 "Disgenet " 2436 CSF2RB "Pulmonary alveolar proteinosis, congenital" MONDO_0012580 "Disgenet " 2436 CSF2RB "Pulmonary Alveolar Proteinosis" MONDO_0001437 "Disgenet " 2436 CSF2RB "surfactant metabolism dysfunction, pulmonary, 5" MONDO:0013712 "ClinGen " 2436 CSF2RB Schizophrenias MONDO_0005090 "Disgenet " 2438 CSF3 "ISCHEMIC ENCEPH" MONDO_0005299 "Disgenet " 2438 CSF3 Epithelioma MONDO_0004993 "Disgenet " 2438 CSF3 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 2438 CSF3 "Head and Neck Neoplasms" MONDO_0005586 "Disgenet " 2438 CSF3 "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 2438 CSF3 "Hypersensitivity angiitis" MONDO_0019509 "Disgenet " 2438 CSF3 "Attacks, Transient Ischemic" MONDO_0005264 "Disgenet " 2438 CSF3 "B Cell Lymphoma" MONDO_0015759 "Disgenet " 2438 CSF3 ALL MONDO_0004967 "Disgenet " 2438 CSF3 "ischemia limb" MONDO_0000491 "Disgenet " 2438 CSF3 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 2438 CSF3 "Liver Neoplasm" MONDO_0002691 "Disgenet " 2438 CSF3 Melanoma MONDO_0005105 "Disgenet " 2438 CSF3 Carcinoma MONDO_0004993 "Disgenet " 2438 CSF3 "Congestive heart failure" MONDO_0005252 "Disgenet " 2438 CSF3 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 2438 CSF3 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 2438 CSF3 "Diseases, Lung" MONDO_0005275 "Disgenet " 2438 CSF3 "Liver Failure, Acute" MONDO_0019542 "Disgenet " 2438 CSF3 Thrombocytopenia MONDO_0002049 "Disgenet " 2438 CSF3 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 2438 CSF3 "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 2438 CSF3 Pancytopenia MONDO_0001529 "Disgenet " 2438 CSF3 Anemia MONDO_0002280 "Disgenet " 2438 CSF3 "Diseases, Nervous System" MONDO_0005071 "Disgenet " 2438 CSF3 "Brain Injuries" MONDO_0043510 "Disgenet " 2438 CSF3 Agranulocytoses MONDO_0015134 "Disgenet " 2438 CSF3 Leukopenia MONDO_0003785 "Disgenet " 2438 CSF3 Depression MONDO_0002050 "Disgenet " 2438 CSF3 Sepsis MONDO_0005229 "Disgenet " 2438 CSF3 Asthma MONDO_0004979 "Disgenet " 2438 CSF3 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 2438 CSF3 Neutropenia MONDO_0001475 "Disgenet " 2438 CSF3 "Multiple Myeloma" MONDO_0009693 "Disgenet " 2438 CSF3 "Breast Neoplasms" MONDO_0021100 "Disgenet " 2438 CSF3 "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 2438 CSF3 "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 2438 CSF3 "Aplastic anemia" MONDO_0015909 "Disgenet " 2438 CSF3 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 2438 CSF3 "Hodgkin's granuloma" MONDO_0004952 "Disgenet " 2438 CSF3 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 2438 CSF3 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 2438 CSF3 "Diseases, Liver" MONDO_0005154 "Disgenet " 2438 CSF3 "Heart failure" MONDO_0005252 "Disgenet " 2439 CSF3R "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 2439 CSF3R "Subacute myeloid leukemia" MONDO_0004653 "Disgenet " 2439 CSF3R "Chronic myelomonocytic leukemia" MONDO_0020311 "Disgenet " 2439 CSF3R SCN7 MONDO_0014865 "Disgenet " 2439 CSF3R Leukocytoses "Disgenet " 2439 CSF3R "Chronic Neutrophilic Leukemia" MONDO_0019451 "Disgenet " 2439 CSF3R "NEUTROPHILIA, HEREDITARY" MONDO_0008092 "Disgenet " 2439 CSF3R "Infantile genetic agranulocytosis" MONDO_0018542 "Disgenet " 2439 CSF3R "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 2439 CSF3R Neutropenia MONDO_0001475 "Disgenet " 244 ADD2 "High blood pressure" MONDO_0005044 "Disgenet " 24415 BOLA3 "mitochondrial disease" MONDO:0044970 "ClinGen " 24415 BOLA3 MMDS2 MONDO_0013675 "Disgenet " 24437 CNDP2 "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 2444 CSK "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 24460 EIF3M "Cancer, Breast" MONDO_0007254 "Disgenet " 24464 CHST14 ATCS MONDO_0011142 "Disgenet " 24464 CHST14 "Ehlers Danlos Syndrome" MONDO_0020066 "Disgenet " 24472 PSRC1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 24472 PSRC1 "Coronary Disease" MONDO_0005010 "Disgenet " 24475 DMGDH "DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY" MONDO_0011610 "Disgenet " 24475 DMGDH "dimethylglycine dehydrogenase deficiency" MONDO:0011610 "ClinGen " 24488 POC1A "PITUITARY DWARFISM I" MONDO_0000050 "Disgenet " 24488 POC1A "SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS" MONDO_0013894 "Disgenet " 245 ADD3 CPSQ3 MONDO_0014862 "Disgenet " 245 ADD3 "Cerebral Palsy" MONDO_0006497 "Disgenet " 245 ADD3 "complex neurodevelopmental disorder with motor features" MONDO:0100516 "ClinGen " 24502 WDR62 "True Microcephaly" MONDO_0016660 "Disgenet " 24502 WDR62 "microcephaly 2, primary, autosomal recessive, with or without cortical malformations" MONDO:0011435 "ClinGen " 24502 WDR62 MCPH2 MONDO_0011435 "Disgenet " 24502 WDR62 Polymicrogyria MONDO_0000087 "Disgenet " 24502 WDR62 "Microcephaly, congenital" "Disgenet " 24502 WDR62 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 24502 WDR62 Microcephalies MONDO_0001149 "Disgenet " 24519 TCTN3 OFD4 MONDO_0009794 "Disgenet " 24519 TCTN3 ciliopathy MONDO:0005308 "ClinGen " 24519 TCTN3 CPD4 MONDO_0018772 "Disgenet " 24519 TCTN3 "JOUBERT SYNDROME 18" MONDO_0013896 "Disgenet " 2452 CSNK1D "ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2" MONDO_0014088 "Disgenet " 2452 CSNK1D "Cancer, Breast" MONDO_0007254 "Disgenet " 2452 CSNK1D Fasps MONDO_0015609 "Disgenet " 24525 MMACHC Homocystinuria MONDO_0004737 "Disgenet " 24525 MMACHC Methymalonicaciduria MONDO_0002012 "Disgenet " 24525 MMACHC "METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE" MONDO_0010184 "Disgenet " 24525 MMACHC "methylmalonic aciduria and homocystinuria type cblC" MONDO:0010184 "ClinGen " 24526 ATL3 "neuropathy, hereditary sensory, type 1F" MONDO:0014286 "ClinGen " 24526 ATL3 "NEUROPATHY, HEREDITARY SENSORY, TYPE IF" MONDO_0014286 "Disgenet " 24529 TMEM98 Nanophthalmia MONDO_0005514 "Disgenet " 24529 TMEM98 NNO1 MONDO_0005514 "Disgenet " 24529 TMEM98 NNO4 MONDO_0005514 "Disgenet " 2453 CSNK1E "Bipolar Disorders" MONDO_0004985 "Disgenet " 2453 CSNK1E Schizophrenias MONDO_0005090 "Disgenet " 24539 NECAP1 "Early infantile epileptic encephalopathy with burst-suppression" MONDO_0100062 "Disgenet " 24539 NECAP1 EIEE21 MONDO_0014360 "Disgenet " 24539 NECAP1 "developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 24555 INTS1 "NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES" MONDO_0032817 "Disgenet " 24564 C2CD3 "OROFACIODIGITAL SYNDROME XIV" MONDO_0014413 "Disgenet " 24564 C2CD3 "orofaciodigital syndrome type 14" MONDO:0014413 "ClinGen " 24565 KANSL1 "Koolen-de Vries syndrome" MONDO:0012496 "ClinGen " 24565 KANSL1 "Chromosome 17q21.31 Deletion Syndrome" MONDO_0012496 "Disgenet " 24565 KANSL1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 2457 CSNK2A1 "syndromic intellectual disability" MONDO:0000508 "ClinGen " 2457 CSNK2A1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 2457 CSNK2A1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 2457 CSNK2A1 OCNDS MONDO_0014893 "Disgenet " 24576 CDT1 "EAR, PATELLA, SHORT STATURE SYNDROME" MONDO_0016817 "Disgenet " 24576 CDT1 MGORS4 MONDO_0013431 "Disgenet " 24576 CDT1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 24576 CDT1 "Meier-Gorlin syndrome 4" MONDO:0013431 "ClinGen " 24579 CIB2 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 24579 CIB2 "Usher syndrome type 1" MONDO:0010168 "ClinGen " 24579 CIB2 "USHER SYNDROME, TYPE IJ" MONDO_0013935 "Disgenet " 24579 CIB2 "Usher syndrome" MONDO_0019501 "Disgenet " 24579 CIB2 DFNB48 MONDO_0012273 "Disgenet " 24583 DOK3 "Lung Neoplasm" MONDO_0002732 "Disgenet " 24587 HYCC1 "HYPOMYELINATION AND CONGENITAL CATARACT" MONDO_0012514 "Disgenet " 24587 HYCC1 "hypomyelinating leukodystrophy 5" MONDO:0012514 "ClinGen " 2459 CSNK2A2 "Neoplasm, Skin" MONDO_0002531 "Disgenet " 2459 CSNK2A2 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 24592 STEAP3 "severe congenital hypochromic anemia with ringed sideroblasts" MONDO:0014094 "ClinGen " 24613 NRROS "seizures, early-onset, with neurodegeneration and brain calcifications" MONDO:0030033 "ClinGen " 24613 NRROS SENEBAC MONDO_0030033 "Disgenet " 24624 SIL1 "Marinesco-Sjogren syndrome" MONDO:0009567 "ClinGen " 24624 SIL1 "Marinesco Sjogren Syndrome" MONDO_0009567 "Disgenet " 24624 SIL1 "Cerebellar atrophy" "Disgenet " 24624 SIL1 Cataracts MONDO_0005129 "Disgenet " 24624 SIL1 "Global developmental delay" "Disgenet " 24628 MED28 "Breast Neoplasms" MONDO_0021100 "Disgenet " 2464 VCAN "Wagner disease" MONDO:0007740 "ClinGen " 2464 VCAN ERVR MONDO_0007740 "Disgenet " 2464 VCAN "Aneurysms, Intracranial" MONDO_0005291 "Disgenet " 2464 VCAN "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 2464 VCAN "Vitreoretinal degeneration" MONDO_0020248 "Disgenet " 24650 EHMT1 "Kleefstra syndrome" MONDO:0012455 "ClinGen " 24650 EHMT1 "Childhood autism" MONDO_0005260 "Disgenet " 24650 EHMT1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 24650 EHMT1 "Kleefstra syndrome" MONDO_0012455 "Disgenet " 24650 EHMT1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 24650 EHMT1 "Global developmental delay" "Disgenet " 24650 EHMT1 "9q- Syndrome" MONDO_0027407 "Disgenet " 24650 EHMT1 Schizophrenias MONDO_0005090 "Disgenet " 24650 EHMT1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 24650 EHMT1 "Cancer, Breast" MONDO_0007254 "Disgenet " 24662 EXOSC5 CABAC MONDO_0859200 "Disgenet " 24669 FIGLA "Primary ovarian failure" MONDO_0005387 "Disgenet " 2467 CSPG5 Schizophrenias MONDO_0005090 "Disgenet " 24670 FNDC3B "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 24670 FNDC3B Keratoconus MONDO_0015486 "Disgenet " 24671 FLAD1 "MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY" MONDO_0009282 "Disgenet " 24671 FLAD1 "myopathy with abnormal lipid metabolism" MONDO:0009703 "ClinGen " 24678 FTO "Affective Disorders" MONDO_0005371 "Disgenet " 24678 FTO hypernephroma MONDO_0005086 "Disgenet " 24678 FTO "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 24678 FTO "High blood pressure" MONDO_0005044 "Disgenet " 24678 FTO "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 24678 FTO "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 24678 FTO "Childhood obesity" "Disgenet " 24678 FTO "Breast Neoplasms" MONDO_0021100 "Disgenet " 24678 FTO "Cardiovascular Disease" MONDO_0004995 "Disgenet " 24678 FTO Depression MONDO_0002050 "Disgenet " 24678 FTO "Depressive neurosis" MONDO_0002050 "Disgenet " 24678 FTO "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 24678 FTO Melanoma MONDO_0005105 "Disgenet " 24678 FTO Alcoholism MONDO_0002046 "Disgenet " 24678 FTO "Renal cell carcinoma" MONDO_0005549 "Disgenet " 24678 FTO "Coronary Disease" MONDO_0005010 "Disgenet " 24678 FTO Obesity MONDO_0019182 "Disgenet " 24678 FTO "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 2468 SMC3 "De Lange Syndrome" MONDO_0016033 "Disgenet " 2468 SMC3 "Cornelia de Lange syndrome" MONDO:0016033 "ClinGen " 2468 SMC3 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 2468 SMC3 CDLS3 MONDO_0012555 "Disgenet " 2468 SMC3 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 2468 SMC3 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 24682 FLVCR1 "Peripheral sensory neuropathy" MONDO_0002321 "Disgenet " 24682 FLVCR1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 24682 FLVCR1 "Hereditary Sensory and Autonomic Neuropathies" MONDO_0015364 "Disgenet " 24682 FLVCR1 AXPC1 MONDO_0012177 "Disgenet " 24682 FLVCR1 "FLVCR1-related retinopathy with or without ataxia" MONDO:0100449 "ClinGen " 24682 FLVCR1 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 24684 AGGF1 "Disease, Klippel-Trenaunay" MONDO_0008800 "Disgenet " 2469 CSRP1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2469 CSRP1 "congenital heart disease" MONDO:0005453 "ClinGen " 24713 QRICH1 "syndromic complex neurodevelopmental disorder" MONDO:0800439 "ClinGen " 24713 QRICH1 "VERVERI-BRADY SYNDROME" MONDO_0060707 "Disgenet " 24715 TBC1D8B "nephrotic syndrome, type 20" MONDO:0026726 "ClinGen " 24715 TBC1D8B "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 24715 TBC1D8B NPHS20 MONDO_0026726 "Disgenet " 24717 PTCD3 "Leigh syndrome" MONDO:0009723 "ClinGen " 24717 PTCD3 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 2472 CSRP3 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 2472 CSRP3 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 2472 CSRP3 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 2472 CSRP3 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 2472 CSRP3 Cardiomyopathy MONDO_0004994 "Disgenet " 2472 CSRP3 "CARDIOMYOPATHY, DILATED, 1M" MONDO_0011840 "Disgenet " 2472 CSRP3 CMH12 MONDO_0012804 "Disgenet " 24725 FAM111A "GRACILE BONE DYSPLASIA" MONDO_0011215 "Disgenet " 24725 FAM111A "KENNY-CAFFEY SYNDROME, TYPE 2" MONDO_0007478 "Disgenet " 24731 NHLRC2 "FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS" MONDO_0032651 "Disgenet " 2475 CST3 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 2475 CST3 Meningiomas MONDO_0016642 "Disgenet " 2475 CST3 "acute renal insufficiency (diagnosis)" MONDO_0002492 "Disgenet " 2475 CST3 "Cardiovascular Disease" MONDO_0004995 "Disgenet " 2475 CST3 Nephropathy MONDO_0005240 "Disgenet " 2475 CST3 "Alzheimer Disease" MONDO_0012630 "Disgenet " 2475 CST3 "Acute kidney injury" MONDO_0002492 "Disgenet " 2475 CST3 "Amyloidosis, Icelandic Type" MONDO_0005620 "Disgenet " 2475 CST3 "MACULAR DEGENERATION, AGE-RELATED, 11" MONDO_0012767 "Disgenet " 2475 CST3 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 24750 ZNF699 Alcoholism MONDO_0002046 "Disgenet " 24750 ZNF699 "DEVELOPMENTAL DELAY WITH GASTROINTESTINAL, CARDIOVASCULAR, GENITOURINARY, AND SKELETAL ABNORMALITIES" MONDO_0859181 "Disgenet " 2478 CST6 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2478 CST6 Melanoma MONDO_0005105 "Disgenet " 2478 CST6 "Breast Neoplasms" MONDO_0021100 "Disgenet " 248 PLIN2 "Fatty Liver, Alcoholic" MONDO_0021104 "Disgenet " 248 PLIN2 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 248 PLIN2 "Fatty Liver" MONDO_0004790 "Disgenet " 2481 CSTA APSS MONDO_0012345 "Disgenet " 2481 CSTA "ICHTHYOSIS EXFOLIATIVA" MONDO_0017339 "Disgenet " 2482 CSTB "Epilepsies, Progressive Myoclonic" MONDO_0020074 "Disgenet " 2482 CSTB "Unverricht-Lundborg syndrome" MONDO:0009698 "ClinGen " 2482 CSTB "developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 2482 CSTB Encephalopathy MONDO_0005560 "Disgenet " 2482 CSTB "Lundborg Unverricht Syndrome" MONDO_0020074 "Disgenet " 24824 FZR1 DEE109 MONDO_0859325 "Disgenet " 24827 HCAR2 "Neoplasm, Skin" MONDO_0002531 "Disgenet " 24827 HCAR2 Psoriases MONDO_0005083 "Disgenet " 24827 HCAR2 Schizophrenias MONDO_0005090 "Disgenet " 24846 GAS2L2 "CILIARY DYSKINESIA, PRIMARY, 41" MONDO_0032757 "Disgenet " 24846 GAS2L2 "ciliary dyskinesia, primary, 41" MONDO:0032757 "ClinGen " 24846 GAS2L2 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 24858 MFF Encephalopathy MONDO_0005560 "Disgenet " 24858 MFF "encephalopathy due to mitochondrial and peroxisomal fission defect" MONDO:0054865 "ClinGen " 24858 MFF "Leigh syndrome" MONDO:0009723 "ClinGen " 24861 G6PC3 "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" MONDO:0012930 "ClinGen " 24861 G6PC3 SCN4 MONDO_0012930 "Disgenet " 24861 G6PC3 "Infantile genetic agranulocytosis" MONDO_0018542 "Disgenet " 24862 MOGS "MOGS-congenital disorder of glycosylation" MONDO:0011629 "ClinGen " 24862 MOGS CDGIIb MONDO_0011629 "Disgenet " 24864 GAPDHS "Alzheimer Disease" MONDO_0012630 "Disgenet " 24866 CEP104 ciliopathy MONDO:0005308 "ClinGen " 24866 CEP104 CPD4 MONDO_0018772 "Disgenet " 24870 GLT8D1 "Familial amyotrophic lateral sclerosis" MONDO_0005144 "Disgenet " 24870 GLT8D1 "amyotrophic lateral sclerosis" MONDO:0004976 "ClinGen " 24870 GLT8D1 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 24885 GREB1 Endometrioses MONDO_0005133 "Disgenet " 24885 GREB1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 24891 DCAF8 "Giant Axonal Neuropathy, Autosomal Dominant" MONDO_0012411 "Disgenet " 24912 LARP7 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 24912 LARP7 ALAZS MONDO_0014031 "Disgenet " 24928 VPS37A "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 24928 VPS37A "SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE" MONDO_0013962 "Disgenet " 24931 ZC4H2 "Apraxia, oculomotor, with congenital contractures and muscle atrophy" MONDO_0025445 "Disgenet " 24931 ZC4H2 "WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED" MONDO_0026762 "Disgenet " 24931 ZC4H2 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 24931 ZC4H2 "X-linked syndromic intellectual disability" MONDO:0020119 "ClinGen " 24934 MAGEE1 "Cancer, Breast" MONDO_0007254 "Disgenet " 2494 CTBP1 HADDTS MONDO_0060666 "Disgenet " 2494 CTBP1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 24944 DDIT4 "Parkinson Disease" MONDO_0014796 "Disgenet " 24945 GPIHBP1 Hyperchylomicronemia MONDO_0009387 "Disgenet " 24945 GPIHBP1 "HYPERLIPOPROTEINEMIA, TYPE ID" MONDO_0014412 "Disgenet " 24948 DOT1L "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 24948 DOT1L "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 2495 CTBP2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 24968 EXOC2 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 24969 NPRL2 "Epilepsy, Partial, with Variable Foci" MONDO_0020310 "Disgenet " 24969 NPRL2 "Epilepsies, Focal" MONDO_0005384 "Disgenet " 24969 NPRL2 "EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2" MONDO_0014924 "Disgenet " 24969 NPRL2 "focal epilepsy" MONDO:0005384 "ClinGen " 24973 HP1BP3 "Depression, Post-Natal" MONDO_0005929 "Disgenet " 2498 CTDP1 "CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY" MONDO_0011402 "Disgenet " 2499 CTF1 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 2499 CTF1 Cardiomyopathy MONDO_0004994 "Disgenet " 2499 CTF1 Obesity MONDO_0019182 "Disgenet " 24990 COA3 MC4DN14 MONDO_0033649 "Disgenet " 24990 COA3 "mitochondrial disease" MONDO:0044970 "ClinGen " 250 ADH1B "Abuse, Alcohol" MONDO_0002046 "Disgenet " 250 ADH1B Alcoholism MONDO_0002046 "Disgenet " 250 ADH1B "Alcoholic Intoxication" "Disgenet " 250 ADH1B Psychosis MONDO_0005485 "Disgenet " 2500 CCN2 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 2500 CCN2 "Lung Neoplasm" MONDO_0002732 "Disgenet " 2500 CCN2 "Diseases, Lung" MONDO_0005275 "Disgenet " 2500 CCN2 "Hepatitis B, Chronic" MONDO_0005366 "Disgenet " 2500 CCN2 "High blood pressure" MONDO_0005044 "Disgenet " 2500 CCN2 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 2500 CCN2 "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 2500 CCN2 "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 2500 CCN2 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 2500 CCN2 "Congestive heart failure" MONDO_0005252 "Disgenet " 2500 CCN2 "Heart failure" MONDO_0005252 "Disgenet " 25009 UBE2T "Liver cell carcinoma" MONDO_0007256 "Disgenet " 25009 UBE2T "FANCONI ANEMIA, COMPLEMENTATION GROUP T" MONDO_0014638 "Disgenet " 25009 UBE2T "Fanconi Anemia" MONDO_0019391 "Disgenet " 2501 CTH "homoserine deaminase deficiency" MONDO_0009058 "Disgenet " 2501 CTH cystathioninuria MONDO:0009058 "ClinGen " 2501 CTH cystathioninuria MONDO_0009058 "Disgenet " 25012 LGALSL "amyotrophic lateral sclerosis" MONDO:0004976 "ClinGen " 25018 TMEM216 ciliopathy MONDO:0005308 "ClinGen " 25018 TMEM216 CPD4 MONDO_0018772 "Disgenet " 25018 TMEM216 JBTS2 MONDO_0011963 "Disgenet " 25018 TMEM216 "Meckel-Gruber syndrome" MONDO_0018921 "Disgenet " 25018 TMEM216 "MECKEL SYNDROME, TYPE 2" MONDO_0011296 "Disgenet " 2505 CTLA4 "Disease, Schaumann" MONDO_0008399 "Disgenet " 2505 CTLA4 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 2505 CTLA4 Vitiligo MONDO_0008661 "Disgenet " 2505 CTLA4 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 2505 CTLA4 "Cutaneous T Cell Lymphoma" MONDO_0015758 "Disgenet " 2505 CTLA4 "Sjogren's Syndrome" MONDO_0010030 "Disgenet " 2505 CTLA4 "Latent autoimmune diabetes in adults" MONDO_0850306 "Disgenet " 2505 CTLA4 "Multiple Myeloma" MONDO_0009693 "Disgenet " 2505 CTLA4 "autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency" MONDO:0014493 "ClinGen " 2505 CTLA4 Schizophrenias MONDO_0005090 "Disgenet " 2505 CTLA4 "Bipolar Disorders" MONDO_0004985 "Disgenet " 2505 CTLA4 "Sezary's disease" MONDO_0017844 "Disgenet " 2505 CTLA4 "human T cell leukemia" MONDO_0019471 "Disgenet " 2505 CTLA4 COPD MONDO_0005002 "Disgenet " 2505 CTLA4 Nephropathy MONDO_0005240 "Disgenet " 2505 CTLA4 "IgA Deficiency" MONDO_0001341 "Disgenet " 2505 CTLA4 "Glomerulonephritides, Lupus" MONDO_0005556 "Disgenet " 2505 CTLA4 Psoriases MONDO_0005083 "Disgenet " 2505 CTLA4 "Granulomatosis, Wegener" MONDO_0012105 "Disgenet " 2505 CTLA4 "Deficiency Syndrome, Immunological" MONDO_0021094 "Disgenet " 2505 CTLA4 "Hepatitis B" MONDO_0005344 "Disgenet " 2505 CTLA4 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 2505 CTLA4 "Celiac Disease" MONDO_0005130 "Disgenet " 2505 CTLA4 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 2505 CTLA4 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 2505 CTLA4 "Autoimmune Thyroiditides" MONDO_0007699 "Disgenet " 2505 CTLA4 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 2505 CTLA4 "Hashimoto's disease" MONDO_0007699 "Disgenet " 2505 CTLA4 Melanoma MONDO_0005105 "Disgenet " 2505 CTLA4 "CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION" MONDO_0014493 "Disgenet " 2505 CTLA4 "GRAVES DISEASE" MONDO_0005364 "Disgenet " 2505 CTLA4 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 2505 CTLA4 "Cancer, Breast" MONDO_0007254 "Disgenet " 2505 CTLA4 Asthma MONDO_0004979 "Disgenet " 2505 CTLA4 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 2505 CTLA4 "primary biliary cirrhosis" MONDO_0005388 "Disgenet " 2505 CTLA4 "Disease, Graft-Versus-Host" MONDO_0013730 "Disgenet " 2505 CTLA4 "Autoimmune hemolytic anemia" MONDO_0020108 "Disgenet " 2505 CTLA4 "Dysthyroid exophthalmos" MONDO_0018756 "Disgenet " 2505 CTLA4 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 2505 CTLA4 "Behcet Syndrome" MONDO_0007191 "Disgenet " 2505 CTLA4 "Atopic Eczema" MONDO_0011292 "Disgenet " 2505 CTLA4 "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 2505 CTLA4 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 2505 CTLA4 IDDM12 MONDO_0011068 "Disgenet " 2505 CTLA4 "Autoimmune Hepatitides" MONDO_0016264 "Disgenet " 2505 CTLA4 "Alopecia Areata" MONDO_0005340 "Disgenet " 25056 KLHL20 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 25063 DMKN CRC MONDO_0005335 "Disgenet " 25070 ACD "ACD-related short telomere syndrome" MONDO:0100569 "ClinGen " 25070 ACD "Hereditary Cutaneous Melanoma" MONDO_0018961 "Disgenet " 25070 ACD "DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6" MONDO_0014690 "Disgenet " 2509 CTNNA1 "hereditary nonpolyposis colon cancer" MONDO:0018630 "ClinGen " 2509 CTNNA1 "CTNNA1-related diffuse gastric and lobular breast cancer syndrome" MONDO:0100256 "ClinGen " 2509 CTNNA1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 2509 CTNNA1 "Butterfly-shaped pattern dystrophy" MONDO_0100466 "Disgenet " 2509 CTNNA1 "Macular Dystrophy, Butterfly-Shaped Pigmentary, 2" MONDO_0018973 "Disgenet " 25094 MTSS2 IDDOF MONDO_0859303 "Disgenet " 25094 MTSS2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 25097 CABLES1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 251 ADH1C "Abuse, Alcohol" MONDO_0002046 "Disgenet " 251 ADH1C "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 251 ADH1C "Mouth Neoplasm" MONDO_0021245 "Disgenet " 251 ADH1C "Alcoholic Intoxication" "Disgenet " 251 ADH1C Alcoholism MONDO_0002046 "Disgenet " 25104 AP5B1 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 2511 CTNNA3 "congenital heart disease" MONDO:0005453 "ClinGen " 2511 CTNNA3 "arrhythmogenic right ventricular cardiomyopathy" MONDO:0016587 "ClinGen " 2511 CTNNA3 "Arrhythmogenic right ventricular dysplasia" MONDO_0016587 "Disgenet " 2511 CTNNA3 Asthma MONDO_0004979 "Disgenet " 2511 CTNNA3 ARVC13 MONDO_0000908 "Disgenet " 2511 CTNNA3 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 25114 BOD1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 25118 OTULIN "OTULIN-RELATED AUTOINFLAMMATORY SYNDROME" MONDO_0014912 "Disgenet " 25126 NAF1 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 25126 NAF1 "pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7" MONDO:0957261 "ClinGen " 25133 MARS2 "mitochondrial disease" MONDO:0044970 "ClinGen " 25133 MARS2 "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25" MONDO_0014636 "Disgenet " 25133 MARS2 SPAX3 MONDO_0012664 "Disgenet " 25135 LRSAM1 "Charcot-Marie-Tooth disease axonal type 2P" MONDO:0013753 "ClinGen " 25135 LRSAM1 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P" MONDO_0013753 "Disgenet " 25135 LRSAM1 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 2514 CTNNB1 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 2514 CTNNB1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 2514 CTNNB1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 2514 CTNNB1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 2514 CTNNB1 "Centrocytic Small-Cell Lymphoma" MONDO_0018876 "Disgenet " 2514 CTNNB1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 2514 CTNNB1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 2514 CTNNB1 "MRD19, FORMERLY" MONDO_0014035 "Disgenet " 2514 CTNNB1 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 2514 CTNNB1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2514 CTNNB1 Pilomatrixoma MONDO_0007564 "Disgenet " 2514 CTNNB1 Medulloblastoma MONDO_0007959 "Disgenet " 2514 CTNNB1 Hepatoblastoma MONDO_0018666 "Disgenet " 2514 CTNNB1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 2514 CTNNB1 "Aggressive fibromatosis" MONDO_0007608 "Disgenet " 2514 CTNNB1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 2514 CTNNB1 Adenoma MONDO_0004972 "Disgenet " 2514 CTNNB1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 2514 CTNNB1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 2514 CTNNB1 "Malignant neoplasm of large intestine" MONDO_0005575 "Disgenet " 2514 CTNNB1 "Abnormalities, Craniofacial" "Disgenet " 2514 CTNNB1 Dysembryomas MONDO_0002601 "Disgenet " 2514 CTNNB1 Angiosarcomas MONDO_0016982 "Disgenet " 2514 CTNNB1 "Bladder transitional cell carcinoma" MONDO_0005611 "Disgenet " 2514 CTNNB1 "Neoplasm, Parathyroid" MONDO_0012004 "Disgenet " 2514 CTNNB1 "Hepatocellular carcinoma, fibrolamellar" MONDO_0006210 "Disgenet " 2514 CTNNB1 "Global developmental delay" "Disgenet " 2514 CTNNB1 "Adrenal Gland Neoplasm" MONDO_0002817 "Disgenet " 2514 CTNNB1 "Brain Neoplasms" MONDO_0021211 "Disgenet " 2514 CTNNB1 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 2514 CTNNB1 "Malignant melanoma of skin" MONDO_0005012 "Disgenet " 2514 CTNNB1 "severe intellectual disability-progressive spastic diplegia syndrome" MONDO:0014035 "ClinGen " 2514 CTNNB1 "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 2514 CTNNB1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 2514 CTNNB1 "Vascular calcification" "Disgenet " 2514 CTNNB1 "Intestinal Neoplasm" MONDO_0005814 "Disgenet " 2514 CTNNB1 "CARCINOMA OF ESOPHAGUS" MONDO_0007576 "Disgenet " 2514 CTNNB1 "Liver cell adenoma" MONDO_0018902 "Disgenet " 2514 CTNNB1 Adenocarcinoma MONDO_0004970 "Disgenet " 2514 CTNNB1 "Familial exudative vitreoretinopathy" MONDO_0019516 "Disgenet " 2514 CTNNB1 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 2514 CTNNB1 Schizophrenias MONDO_0005090 "Disgenet " 2514 CTNNB1 "Pancreatic adenocarcinoma" MONDO_0006047 "Disgenet " 2514 CTNNB1 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 2514 CTNNB1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 2514 CTNNB1 Nephroblastoma MONDO_0019004 "Disgenet " 2514 CTNNB1 "Liver Neoplasm" MONDO_0002691 "Disgenet " 2514 CTNNB1 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 2514 CTNNB1 "Childhood Renal Wilms' Tumor" MONDO_0024676 "Disgenet " 2514 CTNNB1 Melanoma MONDO_0005105 "Disgenet " 2514 CTNNB1 "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 2514 CTNNB1 CRC MONDO_0005335 "Disgenet " 2514 CTNNB1 Craniopharyngioma MONDO_0018907 "Disgenet " 2514 CTNNB1 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 2514 CTNNB1 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 2514 CTNNB1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 2514 CTNNB1 "Adrenal cortical carcinoma" MONDO_0006639 "Disgenet " 2514 CTNNB1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 2514 CTNNB1 "nasopharyngeal angiofibroma" MONDO_0017340 "Disgenet " 2514 CTNNB1 "Malignant neoplasm of gallbladder" MONDO_0005411 "Disgenet " 2514 CTNNB1 "adenocarcinoma of prostate gland" MONDO_0005082 "Disgenet " 2514 CTNNB1 "Mesothelioma, malignant" MONDO_0006292 "Disgenet " 2514 CTNNB1 "endometrial hyperplasia with atypia" MONDO_0006096 "Disgenet " 2514 CTNNB1 "Child Development Disorder" MONDO_0005287 "Disgenet " 2514 CTNNB1 "Neoplasm, Thyroid" MONDO_0015074 "Disgenet " 2514 CTNNB1 "Neuroectodermal Tumor, Primitive" MONDO_0005462 "Disgenet " 2514 CTNNB1 "EXUDATIVE VITREORETINOPATHY 7" MONDO_0033123 "Disgenet " 2515 CTNND1 "blepharocheilodontic syndrome 2" MONDO:0040503 "ClinGen " 2515 CTNND1 "Lagophthalmia with bilateral cleft lip and palate" MONDO_0007339 "Disgenet " 2515 CTNND1 "BLEPHAROCHEILODONTIC SYNDROME 2" MONDO_0040503 "Disgenet " 25151 ADAT3 "Intellectual disability with strabismus syndrome (disorder)" MONDO_0014119 "Disgenet " 25155 HOGA1 "HYPEROXALURIA, PRIMARY, TYPE III" MONDO_0013327 "Disgenet " 25155 HOGA1 "primary hyperoxaluria type 3" MONDO:0013327 "ClinGen " 25155 HOGA1 "Hyperoxaluria, Primary" MONDO_0002474 "Disgenet " 2516 CTNND2 "Anxiety Disorder" MONDO_0005618 "Disgenet " 2516 CTNND2 "Cri-du-Chat Syndrome" MONDO_0007404 "Disgenet " 2516 CTNND2 Schizophrenias MONDO_0005090 "Disgenet " 2516 CTNND2 CRC MONDO_0005335 "Disgenet " 25169 GPRASP2 "DEAFNESS, X-LINKED 7" MONDO_0044702 "Disgenet " 2518 CTNS cystinosis MONDO:0016239 "ClinGen " 2518 CTNS "CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE" MONDO_0009066 "Disgenet " 2518 CTNS "CYSTINOSIS, INFANTILE NEPHROPATHIC" MONDO_0018467 "Disgenet " 2518 CTNS Cystinosis MONDO_0016239 "Disgenet " 2518 CTNS "CYSTINOSIS, NEPHROPATHIC" MONDO_0100151 "Disgenet " 2518 CTNS "CYSTINOSIS, ADULT NONNEPHROPATHIC" MONDO_0009064 "Disgenet " 25186 TMEM240 "SPINOCEREBELLAR ATAXIA 21" MONDO_0011833 "Disgenet " 25187 TAMM41 COXPD56 MONDO_0859323 "Disgenet " 25189 ALKBH8 "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71" MONDO_0032789 "Disgenet " 2519 CTPS1 "IMMUNODEFICIENCY 24" MONDO_0014391 "Disgenet " 2519 CTPS1 "severe combined immunodeficiency due to CTPS1 deficiency" MONDO:0014391 "ClinGen " 25198 SLC25A46 "Leigh syndrome" MONDO:0009723 "ClinGen " 25198 SLC25A46 "neuropathy, hereditary motor and sensory, type 6B" MONDO:0014671 "ClinGen " 25198 SLC25A46 "PONTOCEREBELLAR HYPOPLASIA, TYPE 1E" MONDO_0030260 "Disgenet " 25198 SLC25A46 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 25198 SLC25A46 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 25198 SLC25A46 "Atrophy, Optic" MONDO_0003608 "Disgenet " 25203 TMEM65 "mitochondrial disease" MONDO:0044970 "ClinGen " 25221 MMADHC "METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE" MONDO_0010185 "Disgenet " 25221 MMADHC "inborn disorder of cobalamin metabolism and transport" MONDO:0019220 "ClinGen " 25223 COQ2 "mitochondrial disease" MONDO:0044970 "ClinGen " 25223 COQ2 COQ10D1 MONDO_0011829 "Disgenet " 25223 COQ2 Nephropathy MONDO_0005240 "Disgenet " 25223 COQ2 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 25223 COQ2 "COENZYME Q10 DEFICIENCY" MONDO_0018151 "Disgenet " 25230 AHDC1 "AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome" MONDO:0014358 "ClinGen " 25230 AHDC1 "Sleep apnea" MONDO_0005296 "Disgenet " 25230 AHDC1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 25230 AHDC1 "XIA-GIBBS SYNDROME" MONDO_0014358 "Disgenet " 25230 AHDC1 "Global developmental delay" "Disgenet " 25230 AHDC1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 25239 ARSK Mucopolysaccharidoses MONDO_0019249 "Disgenet " 2524 CTRL Schizophrenias MONDO_0005090 "Disgenet " 25240 ANO6 "Scott syndrome" MONDO:0009885 "ClinGen " 25240 ANO6 "SCOTT SYNDROME" MONDO_0009885 "Disgenet " 25240 ANO6 "Ankylosing spondylitis" MONDO_0005306 "Disgenet " 25244 CCDC39 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 25244 CCDC39 "CILIARY DYSKINESIA, PRIMARY, 14" MONDO_0013434 "Disgenet " 25244 CCDC39 "primary ciliary dyskinesia 14" MONDO:0013434 "ClinGen " 25257 TMEM18 Obesity MONDO_0019182 "Disgenet " 25257 TMEM18 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 25265 ZCCHC8 PFBMFT5 MONDO_0032865 "Disgenet " 25265 ZCCHC8 "pulmonary fibrosis and/or bone marrow failure, telomere-related, 5" MONDO:0032865 "ClinGen " 25268 APOLD1 "inherited blood coagulation disorder" MONDO:0021181 "ClinGen " 2527 CTSB "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2527 CTSB Glioblastoma MONDO_0018177 "Disgenet " 2527 CTSB "Renal cell carcinoma" MONDO_0005549 "Disgenet " 2527 CTSB "Mastitis Carcinomatosa" MONDO_0006804 "Disgenet " 2527 CTSB "Diabetes Mellitus" MONDO_0005015 "Disgenet " 2527 CTSB "KERATOLYTIC WINTER ERYTHEMA" MONDO_0007854 "Disgenet " 2528 CTSC "Disease, Periodontal" MONDO_0002635 "Disgenet " 2528 CTSC "HAIM-MUNK SYNDROME" MONDO_0009491 "Disgenet " 2528 CTSC "Juvenile Periodontitides" MONDO_0008226 "Disgenet " 2528 CTSC "Papillon-Lefevre Disease" MONDO_0009490 "Disgenet " 25280 ODAD4 "CILIARY DYSKINESIA, PRIMARY, 35" MONDO_0014910 "Disgenet " 25280 ODAD4 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 25280 ODAD4 "primary ciliary dyskinesia 35" MONDO:0014910 "ClinGen " 2529 CTSD "KUFS DIS" MONDO_0008768 "Disgenet " 2529 CTSD "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 2529 CTSD "Renal cell carcinoma" MONDO_0005549 "Disgenet " 2529 CTSD "Neuronal ceroid lipofuscinosis" MONDO_0008767 "Disgenet " 2529 CTSD "Cancer, Breast" MONDO_0007254 "Disgenet " 2529 CTSD "CEROID LIPOFUSCINOSIS, NEURONAL, 10" MONDO_0012414 "Disgenet " 2529 CTSD "Liver cell carcinoma" MONDO_0007256 "Disgenet " 2529 CTSD "Deficiency of cathepsin D" "Disgenet " 2529 CTSD "Alzheimer Disease" MONDO_0012630 "Disgenet " 2529 CTSD "neuronal ceroid lipofuscinosis" MONDO:0016295 "ClinGen " 2529 CTSD "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2529 CTSD "Jansky Bielschowsky Disease" MONDO_0008767 "Disgenet " 2529 CTSD "Batten Spielmeyer Vogt Disease" MONDO_0012588 "Disgenet " 25295 TLCD3B "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 253 ADH5 Asthma MONDO_0004979 "Disgenet " 253 ADH5 "BONE MARROW FAILURE SYNDROME 7, DIGENIC" MONDO_0030894 "Disgenet " 253 ADH5 Alcoholism MONDO_0002046 "Disgenet " 25300 FBXL19 Psoriases MONDO_0005083 "Disgenet " 25302 COQ9 "COENZYME Q10 DEFICIENCY" MONDO_0018151 "Disgenet " 25302 COQ9 "Leigh syndrome" MONDO:0009723 "ClinGen " 25302 COQ9 "mitochondrial disease" MONDO:0044970 "ClinGen " 25305 NSRP1 "neurodevelopmental disorder with spasticity, seizures, and brain abnormalities" MONDO:0859275 "ClinGen " 2531 CTSF "adult neuronal ceroid lipofuscinosis" MONDO:0019260 "ClinGen " 2531 CTSF CLN13 MONDO_0014147 "Disgenet " 2531 CTSF "Neuronal ceroid lipofuscinosis" MONDO_0008767 "Disgenet " 2531 CTSF "KUFS DIS" MONDO_0008768 "Disgenet " 25310 ANKRD27 "Eosinophilic esophagitis" MONDO_0005361 "Disgenet " 25321 SHARPIN Dermatitides MONDO_0002406 "Disgenet " 25326 QRICH2 SPGF35 MONDO_0032686 "Disgenet " 2535 CTSH CRC MONDO_0005335 "Disgenet " 2535 CTSH "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 25355 SLC30A10 Parkinsonism MONDO_0021095 "Disgenet " 25355 SLC30A10 Hypothyroidism MONDO_0005420 "Disgenet " 25355 SLC30A10 "Hypermanganesemia with Dystonia Polycythemia and Cirrhosis" MONDO_0000214 "Disgenet " 25355 SLC30A10 Dystonia MONDO_0003441 "Disgenet " 25355 SLC30A10 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 25355 SLC30A10 Polycythemias MONDO_0009892 "Disgenet " 25356 SPRTN "Hutchinson Gilford Syndrome" MONDO_0008310 "Disgenet " 25356 SPRTN "RUIJS-AALFS SYNDROME" MONDO_0014527 "Disgenet " 25356 SPRTN "Liver cell carcinoma" MONDO_0007256 "Disgenet " 25358 RNF170 "SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE" MONDO_0030512 "Disgenet " 25358 RNF170 "ATAXIA, SENSORY, AUTOSOMAL DOMINANT" MONDO_0012166 "Disgenet " 2536 CTSK pycnodysostosis MONDO:0009940 "ClinGen " 2536 CTSK "Skeletal dysplasia" MONDO_0018230 "Disgenet " 2536 CTSK Periodontitides MONDO_0005593 "Disgenet " 2536 CTSK Schizophrenias MONDO_0005090 "Disgenet " 2536 CTSK PYCNODYSOSTOSIS MONDO_0009940 "Disgenet " 2536 CTSK Glioblastoma MONDO_0018177 "Disgenet " 25361 ARHGAP24 "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 25367 CCDC8 "Miller-McKusick-Malvaux-Syndrome (3M Syndrome)" MONDO_0007477 "Disgenet " 2537 CTSL "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 25380 TMEM163 "LEUKODYSTROPHY, HYPOMYELINATING, 25" MONDO_0859378 "Disgenet " 25382 TMEM126A OPA7 MONDO_0013069 "Disgenet " 25382 TMEM126A "Atrophy, Optic" MONDO_0003608 "Disgenet " 25382 TMEM126A "mitochondrial disease" MONDO:0044970 "ClinGen " 25382 TMEM126A "autosomal recessive optic atrophy, OPA7 type" MONDO:0013069 "ClinGen " 25387 KATNAL2 "Childhood autism" MONDO_0005260 "Disgenet " 25387 KATNAL2 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 25387 KATNAL2 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 25396 FREM2 Cryptophthalmos MONDO_0020153 "Disgenet " 25396 FREM2 "Cryptophthalmos syndrome" MONDO_0009046 "Disgenet " 25396 FREM2 "CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED" MONDO_0007410 "Disgenet " 25396 FREM2 "Congenital diaphragmatic hernia" MONDO_0007719 "Disgenet " 25396 FREM2 FRASRS2 MONDO_0054738 "Disgenet " 25403 SASS6 "MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE" MONDO_0014623 "Disgenet " 25403 SASS6 "True Microcephaly" MONDO_0016660 "Disgenet " 25412 SGIP1 Alcoholism MONDO_0002046 "Disgenet " 25415 PPM1K "maple syrup urine disease, mild variant" MONDO:0014057 "ClinGen " 25415 PPM1K "Branched Chain Ketoaciduria" MONDO_0023691 "Disgenet " 25419 ARL13B JBTS8 MONDO_0012855 "Disgenet " 25419 ARL13B "Joubert syndrome" MONDO:0018772 "ClinGen " 25419 ARL13B CPD4 MONDO_0018772 "Disgenet " 25430 LRRC56 "ciliary dyskinesia, primary, 39" MONDO:0032637 "ClinGen " 25430 LRRC56 "CILIARY DYSKINESIA, PRIMARY, 39" MONDO_0032637 "Disgenet " 25439 TANGO2 Arrhythmia MONDO_0007263 "Disgenet " 25439 TANGO2 "Global developmental delay" "Disgenet " 25439 TANGO2 MECRCN MONDO_0018820 "Disgenet " 25440 TMTC2 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 25443 C19orf12 "neurodegeneration with brain iron accumulation 4" MONDO:0013674 "ClinGen " 25443 C19orf12 "neurodegeneration with brain iron accumulation 4" MONDO:0013674 "ClinGen " 25443 C19orf12 "Progressive cognitive decline" "Disgenet " 25443 C19orf12 "Hallervorden Spatz Syndrome" MONDO_0024457 "Disgenet " 25443 C19orf12 "Neurodegeneration with brain iron accumulation (NBIA)" MONDO_0018307 "Disgenet " 25443 C19orf12 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 25443 C19orf12 NBIA4 MONDO_0013674 "Disgenet " 25443 C19orf12 SPG43 MONDO_0014024 "Disgenet " 25444 HJURP "Liver cell carcinoma" MONDO_0007256 "Disgenet " 2545 CTSS Obesity MONDO_0019182 "Disgenet " 25455 TSR2 "DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS" MONDO_0010493 "Disgenet " 2548 CUBN CRC MONDO_0005335 "Disgenet " 2548 CUBN "Cancer, Breast" MONDO_0007254 "Disgenet " 2548 CUBN "Anemia, Megaloblastic" MONDO_0001700 "Disgenet " 2548 CUBN MGA1 MONDO_0009853 "Disgenet " 25481 TRMU "Leigh syndrome" MONDO:0009723 "ClinGen " 25481 TRMU "mitochondrial disease" MONDO:0044970 "ClinGen " 25481 TRMU "LIVER FAILURE, INFANTILE, TRANSIENT" MONDO_0013111 "Disgenet " 25489 YEATS2 FAME4 MONDO_0014055 "Disgenet " 2550 CELF2 DEE97 MONDO_0030453 "Disgenet " 25507 VAC14 "Striatonigral degeneration" MONDO_0003122 "Disgenet " 25507 VAC14 "STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET" MONDO_0014889 "Disgenet " 25507 VAC14 "Cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia" MONDO_0008995 "Disgenet " 25519 ANO10 "Autosomal recessive cerebellar ataxia" MONDO_0015244 "Disgenet " 25519 ANO10 "Ataxia, Spinocerebellar" MONDO_0000437 "Disgenet " 25519 ANO10 SCAR10 MONDO_0013392 "Disgenet " 25519 ANO10 "autosomal recessive spinocerebellar ataxia 10" MONDO:0013392 "ClinGen " 25522 WRAP53 DKCB3 MONDO_0013520 "Disgenet " 25522 WRAP53 "dyskeratosis congenita" MONDO:0015780 "ClinGen " 25522 WRAP53 "telomere syndrome" MONDO:0100137 "ClinGen " 25522 WRAP53 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 25522 WRAP53 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 25522 WRAP53 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 25522 WRAP53 "Cancer, Breast" MONDO_0007254 "Disgenet " 25522 WRAP53 "Dyskeratosis Congenita" MONDO_0015780 "Disgenet " 25523 CCDC88A "PEHO-Like Syndrome" MONDO_0009841 "Disgenet " 25527 ANKZF1 "inflammatory bowel disease" MONDO:0005265 "ClinGen " 2553 CUL3 Pseudohypoaldosteronism MONDO_0018638 "Disgenet " 2553 CUL3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2553 CUL3 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 2553 CUL3 "pseudohypoaldosteronism type 2E" MONDO:0013782 "ClinGen " 2553 CUL3 "PSEUDOHYPOALDOSTERONISM, TYPE IIE" MONDO_0013782 "Disgenet " 2553 CUL3 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 2553 CUL3 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 25532 MTPAP "mitochondrial disease" MONDO:0044970 "ClinGen " 25532 MTPAP SPAX4 MONDO_0013354 "Disgenet " 25532 MTPAP "Spastic ataxia" MONDO_0017845 "Disgenet " 25535 TMEM38B "Osteogenesis Imperfecta" MONDO_0012591 "Disgenet " 25538 DARS2 "mitochondrial disease" MONDO:0044970 "ClinGen " 25538 DARS2 "LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION" MONDO_0012622 "Disgenet " 2555 CUL4B "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 2555 CUL4B "X-linked intellectual disability, Cabezas type" MONDO:0010306 "ClinGen " 2555 CUL4B "Global developmental delay" "Disgenet " 2555 CUL4B MRXS15 MONDO_0010306 "Disgenet " 25551 SMG8 "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CATARACTS" MONDO_0859136 "Disgenet " 25551 SMG8 "Alzahrani-Kuwahara syndrome" MONDO:0859136 "ClinGen " 25552 RNF220 "LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY" MONDO_0030514 "Disgenet " 25557 PRMT7 Brachydactyly MONDO_0021004 "Disgenet " 2556 CUL5 "Breast Neoplasms" MONDO_0021100 "Disgenet " 25566 SETD5 "syndromic complex neurodevelopmental disorder" MONDO:0800439 "ClinGen " 25566 SETD5 "Autistic behaviors" "Disgenet " 25566 SETD5 MRD23 MONDO_0014336 "Disgenet " 25566 SETD5 "KBG SYNDROME" MONDO_0007846 "Disgenet " 25566 SETD5 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 25566 SETD5 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 25566 SETD5 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 25567 ATAD3A "HAREL-YOON SYNDROME" MONDO_0014958 "Disgenet " 25567 ATAD3A "PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL" MONDO_0032931 "Disgenet " 25568 FANCI "Fanconi Anemia" MONDO_0019391 "Disgenet " 25568 FANCI "Cancer, Breast" MONDO_0007254 "Disgenet " 25568 FANCI "Fanconi anemia complementation group I" MONDO:0012186 "ClinGen " 25568 FANCI "FANCONI ANEMIA, COMPLEMENTATION GROUP I" MONDO_0012186 "Disgenet " 2557 CUX1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 2557 CUX1 CRC MONDO_0005335 "Disgenet " 2557 CUX1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 2557 CUX1 "Cancer, Breast" MONDO_0007254 "Disgenet " 2557 CUX1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 2557 CUX1 "Chronic myeloproliferative disease" MONDO_0020076 "Disgenet " 2557 CUX1 carcinogenesis "Disgenet " 25576 NAXD "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2" MONDO_0034121 "Disgenet " 25576 NAXD "mitochondrial disease" MONDO:0044970 "ClinGen " 2558 CX3CR1 Obesity MONDO_0019182 "Disgenet " 2558 CX3CR1 "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 2558 CX3CR1 "HIV infection" MONDO_0005109 "Disgenet " 2558 CX3CR1 Asthma MONDO_0004979 "Disgenet " 25590 OGDHL YOBELN MONDO_0859221 "Disgenet " 25593 PACC1 "Cancer, Breast" MONDO_0007254 "Disgenet " 25608 VPS53 PCH2D MONDO_0013438 "Disgenet " 25608 VPS53 PCH2E MONDO_0014370 "Disgenet " 2561 CXCR4 "Immunodeficiency Disorder, Inherited" "Disgenet " 2561 CXCR4 Leukopenia MONDO_0003785 "Disgenet " 2561 CXCR4 "Pancreatic adenocarcinoma" MONDO_0006047 "Disgenet " 2561 CXCR4 "Breast Neoplasms" MONDO_0021100 "Disgenet " 2561 CXCR4 "WHIM syndrome" MONDO_8000006 "Disgenet " 2561 CXCR4 "WHIM syndrome" MONDO:0023880 "ClinGen " 2561 CXCR4 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 2561 CXCR4 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2561 CXCR4 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 2561 CXCR4 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 2561 CXCR4 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 2561 CXCR4 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 2561 CXCR4 "Macroglobulinemia, Waldenstrom's" MONDO_0100280 "Disgenet " 2561 CXCR4 "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 2561 CXCR4 Osteoporoses MONDO_0005298 "Disgenet " 25622 TBC1D23 "PONTOCEREBELLAR HYPOPLASIA, TYPE 11" MONDO_0054669 "Disgenet " 25622 TBC1D23 "Pontocerebellar hypoplasia" MONDO_0020135 "Disgenet " 25640 UFSP2 "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106" MONDO_0031052 "Disgenet " 25640 UFSP2 BFHD MONDO_0007726 "Disgenet " 25641 RNLS "Essential hypertension" MONDO_0007781 "Disgenet " 25641 RNLS "High blood pressure" MONDO_0005044 "Disgenet " 25641 RNLS ESRD MONDO_0004375 "Disgenet " 25657 BCORL1 Oligospermia MONDO_0001913 "Disgenet " 25657 BCORL1 "Childhood Renal Wilms' Tumor" MONDO_0024676 "Disgenet " 25657 BCORL1 Nephroblastoma MONDO_0019004 "Disgenet " 25657 BCORL1 SHUVER MONDO_0026727 "Disgenet " 25657 BCORL1 "Shukla-Vernon syndrome" MONDO:0026727 "ClinGen " 25660 TTC21B "nephronophthisis 12" MONDO:0013442 "ClinGen " 25660 TTC21B "Asphyxiating thoracic dystrophy" MONDO_0018770 "Disgenet " 25660 TTC21B Nephropathy MONDO_0005240 "Disgenet " 25660 TTC21B ATD4 MONDO_0013441 "Disgenet " 25660 TTC21B Nephronophthisis MONDO_0019005 "Disgenet " 25660 TTC21B "NEPHRONOPHTHISIS 12" MONDO_0013442 "Disgenet " 25662 AAGAB PPKP1 MONDO_0019332 "Disgenet " 25662 AAGAB "Keratoderma, Palmoplantar" MONDO_0006590 "Disgenet " 2567 OFD1 JBTS10 MONDO_0010431 "Disgenet " 2567 OFD1 "Orofaciodigital Syndromes" MONDO_0013641 "Disgenet " 2567 OFD1 "Gorlin Psaume Syndrome" MONDO_0015375 "Disgenet " 2567 OFD1 "SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2" MONDO_0010265 "Disgenet " 2567 OFD1 ciliopathy MONDO:0005308 "ClinGen " 2567 OFD1 CPD4 MONDO_0018772 "Disgenet " 2567 OFD1 Ciliopathies MONDO_0005308 "Disgenet " 2567 OFD1 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 2567 OFD1 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 25671 RNASEH2B "RNASEH2B-related type 1 interferonopathy" MONDO:0700257 "ClinGen " 25671 RNASEH2B "AICARDI-GOUTIERES SYNDROME 2" MONDO_0012429 "Disgenet " 25671 RNASEH2B "Aicardi-Goutieres syndrome" MONDO_0018866 "Disgenet " 25676 GORAB "geroderma osteodysplastica" MONDO:0009271 "ClinGen " 25676 GORAB GO MONDO_0009271 "Disgenet " 2568 MAMLD1 Hypospadia MONDO_0005345 "Disgenet " 2568 MAMLD1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 25686 PPCS "CARDIOMYOPATHY, DILATED, 2C" MONDO_0032592 "Disgenet " 25695 CARS2 "mitochondrial disease" MONDO:0044970 "ClinGen " 25695 CARS2 "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27" MONDO_0014728 "Disgenet " 257 ADK "adenosine kinase deficiency" MONDO:0100255 "ClinGen " 257 ADK "HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY" MONDO_0100255 "Disgenet " 257 ADK Schizophrenias MONDO_0005090 "Disgenet " 2570 CYB5A Methemoglobinemia MONDO_0001117 "Disgenet " 2570 CYB5A "methemoglobinemia type 4" MONDO:0009605 "ClinGen " 2570 CYB5A "ISOLATED 17,20-LYASE DEFICIENCY, PURE" MONDO_0009605 "Disgenet " 25705 KCTD17 DYT26 MONDO_0014620 "Disgenet " 25705 KCTD17 DYT11 MONDO_0000903 "Disgenet " 25716 COA7 SCAN3 MONDO_0020770 "Disgenet " 25716 COA7 "mitochondrial disease" MONDO:0044970 "ClinGen " 25726 LAS1L "X-linked syndromic intellectual disability" MONDO:0020119 "ClinGen " 25726 LAS1L WTS MONDO_0010665 "Disgenet " 25737 NHEJ1 "SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY" MONDO_0012650 "Disgenet " 25737 NHEJ1 "Cernunnos-XLF deficiency" MONDO:0012650 "ClinGen " 25737 NHEJ1 "Combined Immunodeficiencies, Severe" MONDO_0015974 "Disgenet " 25740 CEP78 "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 25740 CEP78 "cone-rod dystrophy and hearing loss" MONDO:0014980 "ClinGen " 25740 CEP78 "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 25740 CEP78 "CONE-ROD DYSTROPHY AND HEARING LOSS 1" MONDO_0020778 "Disgenet " 25751 TRAPPC11 "autosomal recessive limb-girdle muscular dystrophy" MONDO:0015152 "ClinGen " 25751 TRAPPC11 LGMD2S MONDO_0014144 "Disgenet " 25751 TRAPPC11 "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 25751 TRAPPC11 "limb girdle muscular dystrophy" MONDO_0016971 "Disgenet " 25751 TRAPPC11 Myopathy MONDO_0003939 "Disgenet " 25751 TRAPPC11 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 25763 SMG9 "Global developmental delay" "Disgenet " 2577 CYBA "Essential hypertension" MONDO_0007781 "Disgenet " 2577 CYBA "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 2577 CYBA "Chronic Granulomatous Disease, Autosomal Recessive Cytochrome B-Negative" MONDO_0009308 "Disgenet " 2577 CYBA "Chronic Granulomatous Diseases" MONDO_0018305 "Disgenet " 2577 CYBA "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 2577 CYBA Atherosclerosis MONDO_0005311 "Disgenet " 2577 CYBA COPD MONDO_0005002 "Disgenet " 2577 CYBA "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 2577 CYBA "CHRONIC GRANULOMATOUS DISEASE, ATYPICAL" MONDO_0010600 "Disgenet " 2577 CYBA "Coronary Disease" MONDO_0005010 "Disgenet " 2577 CYBA "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 2577 CYBA Asthma MONDO_0004979 "Disgenet " 2577 CYBA "High blood pressure" MONDO_0005044 "Disgenet " 25774 TCTN2 "Meckel-Gruber syndrome" MONDO_0018921 "Disgenet " 25774 TCTN2 "JOUBERT SYNDROME 24" MONDO_0014724 "Disgenet " 25774 TCTN2 "Joubert syndrome 24" MONDO:0014724 "ClinGen " 25774 TCTN2 CPD4 MONDO_0018772 "Disgenet " 25777 RFX7 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 2578 CYBB "Congestive heart failure" MONDO_0005252 "Disgenet " 2578 CYBB "Heart failure" MONDO_0005252 "Disgenet " 2578 CYBB "Diabetes Mellitus" MONDO_0005015 "Disgenet " 2578 CYBB Nephropathy MONDO_0005240 "Disgenet " 2578 CYBB "Chronic Granulomatous Diseases" MONDO_0018305 "Disgenet " 2578 CYBB "CHRONIC GRANULOMATOUS DISEASE, ATYPICAL" MONDO_0010600 "Disgenet " 2578 CYBB AMCBX2 MONDO_0010389 "Disgenet " 2578 CYBB "High blood pressure" MONDO_0005044 "Disgenet " 2578 CYBB "Damage, Reperfusion" MONDO_0005203 "Disgenet " 25781 ARMC5 "PRIMARY MACRONODULAR ADRENAL HYPERPLASIA" MONDO_0014416 "Disgenet " 25781 ARMC5 "ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA" MONDO_0009049 "Disgenet " 25781 ARMC5 "Macronodular adrenal hyperplasia" "Disgenet " 25784 DCAF17 "Woodhouse-Sakati syndrome" MONDO:0009419 "ClinGen " 25784 DCAF17 "Hypogonadism, diabetes mellitus, alopecia ,mental retardation and electrocardiographic abnormalities" MONDO_0009419 "Disgenet " 25784 DCAF17 "Neurodegeneration with brain iron accumulation (NBIA)" MONDO_0018307 "Disgenet " 25786 REEP1 HMN5B MONDO_0013884 "Disgenet " 25786 REEP1 "SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 6" MONDO_0859279 "Disgenet " 25786 REEP1 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 25786 REEP1 "Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant" MONDO_0019064 "Disgenet " 25786 REEP1 SPG31 MONDO_0012453 "Disgenet " 25786 REEP1 "Paraplegias, Spastic" MONDO_0003757 "Disgenet " 25789 EFL1 SDS MONDO_0009833 "Disgenet " 2579 CYC1 MC3DN6 MONDO_0014194 "Disgenet " 2579 CYC1 "mitochondrial disease" MONDO:0044970 "ClinGen " 25792 USB1 "Dyskeratosis Congenita" MONDO_0015780 "Disgenet " 25792 USB1 "POIKILODERMA WITH NEUTROPENIA" MONDO_0011405 "Disgenet " 25801 CPLANE1 CPD4 MONDO_0018772 "Disgenet " 25801 CPLANE1 OFD6 MONDO_0010176 "Disgenet " 25801 CPLANE1 "JOUBERT SYNDROME 17" MONDO_0013824 "Disgenet " 25801 CPLANE1 Polydactyly MONDO_0021003 "Disgenet " 25801 CPLANE1 "Joubert syndrome 17" MONDO:0013824 "ClinGen " 25808 FAM161A RP28 MONDO_0011630 "Disgenet " 25808 FAM161A "Autosomal recessive retinitis pigmentosa" "Disgenet " 25808 FAM161A "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 25812 SRD5A3 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq" MONDO_0012885 "Disgenet " 25812 SRD5A3 "SRD5A3-congenital disorder of glycosylation" MONDO:0012885 "ClinGen " 25812 SRD5A3 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 25815 CEP63 Microcephalies MONDO_0001149 "Disgenet " 25829 ABRAXAS1 "Cancer, Breast" MONDO_0007254 "Disgenet " 25835 THSD4 "Aortic Aneurysm, Thoracic" MONDO_0005396 "Disgenet " 2584 CYLD "Liver cell carcinoma" MONDO_0007256 "Disgenet " 2584 CYLD "Multiple Myeloma" MONDO_0009693 "Disgenet " 2584 CYLD SBS MONDO_0007565 "Disgenet " 2584 CYLD "frontotemporal dementia and/or amyotrophic lateral sclerosis 8" MONDO:0030872 "ClinGen " 2584 CYLD "Brooke-Spiegler syndrome" MONDO:0011512 "ClinGen " 2584 CYLD EAC MONDO_0007565 "Disgenet " 25840 KDM8 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 25843 ZNF750 "SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS" MONDO_0012446 "Disgenet " 2586 CLIP2 "Syndrome, Williams" MONDO_0008678 "Disgenet " 25890 TMEM25 "Breast Neoplasms" MONDO_0021100 "Disgenet " 25897 MFSD2A "True Microcephaly" MONDO_0016660 "Disgenet " 25897 MFSD2A Microcephalies MONDO_0001149 "Disgenet " 25897 MFSD2A MCPH15 MONDO_0014660 "Disgenet " 259 ADM "Ovary Syndrome, Polycystic" MONDO_0008487 "Disgenet " 259 ADM "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 259 ADM "Cancer, Breast" MONDO_0007254 "Disgenet " 259 ADM Sepsis MONDO_0005229 "Disgenet " 259 ADM Glomerulonephritides MONDO_0002462 "Disgenet " 259 ADM Schizophrenias MONDO_0005090 "Disgenet " 259 ADM "Childhood autism" MONDO_0005260 "Disgenet " 259 ADM "Bipolar Disorders" MONDO_0004985 "Disgenet " 2590 CYP11A1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 2590 CYP11A1 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 2590 CYP11A1 "Adrenal Insufficiency, Congenital" MONDO_0013400 "Disgenet " 2590 CYP11A1 "LIPOID CONGENITAL ADRENAL HYPERPLASIA" MONDO_0008725 "Disgenet " 2590 CYP11A1 "Adrenogenital disorders" MONDO_0018479 "Disgenet " 2590 CYP11A1 "DSDs, 46,XY" MONDO_0020040 "Disgenet " 2590 CYP11A1 "Adrenal Gland Hypofunction" MONDO_0000004 "Disgenet " 2590 CYP11A1 "ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE" MONDO_0013400 "Disgenet " 25902 POMGNT2 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 24" MONDO_0029135 "Disgenet " 25902 POMGNT2 "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8" MONDO_0013904 "Disgenet " 25902 POMGNT2 "myopathy caused by variation in POMGNT2" MONDO:0700069 "ClinGen " 25902 POMGNT2 "Walker-Warburg congenital muscular dystrophy" MONDO_0000171 "Disgenet " 25902 POMGNT2 alpha-Dystroglycanopathies MONDO_0000171 "Disgenet " 25903 ATAD1 "HYPEREKPLEXIA 4" MONDO_0044330 "Disgenet " 25903 ATAD1 CRC MONDO_0005335 "Disgenet " 25909 ARHGEF39 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 25911 FAM136A "Disease, Meniere" MONDO_0007972 "Disgenet " 25928 WDR73 "Microcephaly nephrosis syndrome" MONDO_0009627 "Disgenet " 25928 WDR73 "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5, FORMERLY" MONDO_0009627 "Disgenet " 25928 WDR73 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 2593 CYP17A1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 2593 CYP17A1 "Primary ovarian failure" MONDO_0005387 "Disgenet " 2593 CYP17A1 "Malignant neoplasm of gallbladder" MONDO_0005411 "Disgenet " 2593 CYP17A1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 2593 CYP17A1 "Adrenal Hyperplasia, Congenital" MONDO_0018479 "Disgenet " 2593 CYP17A1 "Cancer, Breast" MONDO_0007254 "Disgenet " 2593 CYP17A1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2593 CYP17A1 "ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY" MONDO_0008730 "Disgenet " 2593 CYP17A1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 2593 CYP17A1 Osteoporoses MONDO_0005298 "Disgenet " 2593 CYP17A1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 2594 CYP19A1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 2594 CYP19A1 "Sexual Infantilism" "Disgenet " 2594 CYP19A1 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 2594 CYP19A1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 2594 CYP19A1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 2594 CYP19A1 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 2594 CYP19A1 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 2594 CYP19A1 Hypogonadism MONDO_0002146 "Disgenet " 2594 CYP19A1 Prostatitides MONDO_0005280 "Disgenet " 2594 CYP19A1 Adenocarcinoma MONDO_0004970 "Disgenet " 2594 CYP19A1 "Fatty Liver" MONDO_0004790 "Disgenet " 2594 CYP19A1 "Diabetes, Gestational" MONDO_0005406 "Disgenet " 2594 CYP19A1 "Primary ovarian failure" MONDO_0005387 "Disgenet " 2594 CYP19A1 "Childhood autism" MONDO_0005260 "Disgenet " 2594 CYP19A1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2594 CYP19A1 "Cancer, Breast" MONDO_0007254 "Disgenet " 2594 CYP19A1 Endometrioses MONDO_0005133 "Disgenet " 2594 CYP19A1 "Precocious puberty" MONDO_0007690 "Disgenet " 2594 CYP19A1 Osteoporoses MONDO_0005298 "Disgenet " 2594 CYP19A1 Endometrium MONDO_0011962 "Disgenet " 2594 CYP19A1 "Ovary Syndrome, Polycystic" MONDO_0008487 "Disgenet " 2594 CYP19A1 "Maternal virilization due to placental aromatase deficiency (disorder)" MONDO_0013301 "Disgenet " 2594 CYP19A1 "GYNECOMASTIA, FAMILIAL, DUE TO INCREASED AROMATASE ACTIVITY" MONDO_0007690 "Disgenet " 2594 CYP19A1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 2594 CYP19A1 "Bladder neck obstruction" MONDO_0006679 "Disgenet " 25941 TET2 "Multiple Myeloma" MONDO_0009693 "Disgenet " 25941 TET2 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 25941 TET2 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 25941 TET2 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 25941 TET2 "Therapy-Related AML and MDS" MONDO_0019457 "Disgenet " 25941 TET2 "Secondary AGL" MONDO_0019457 "Disgenet " 25941 TET2 "systemic mastocytosis with associated clonal hematologic non-mast cell lineage disease (diagnosis)" MONDO_0020332 "Disgenet " 25941 TET2 "Pulmonary arterial hypertension" MONDO_0015924 "Disgenet " 25941 TET2 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 25941 TET2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 25941 TET2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 25941 TET2 "pulmonary arterial hypertension" MONDO:0015924 "ClinGen " 25941 TET2 "Lymphoma, Peripheral T-Cell" MONDO_0004964 "Disgenet " 25941 TET2 "Chronic myeloproliferative disease" MONDO_0020076 "Disgenet " 25941 TET2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 25941 TET2 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 25941 TET2 "Dysmyelopoietic Syndrome" MONDO_0018881 "Disgenet " 25941 TET2 "Chronic myelomonocytic leukemia" MONDO_0020311 "Disgenet " 25941 TET2 "Myelosclerosis with myeloid metaplasia" MONDO_0800305 "Disgenet " 25941 TET2 "Idiopathic thrombocythemia" MONDO_0005029 "Disgenet " 25941 TET2 "Osler Vaquez Disease" MONDO_0009891 "Disgenet " 25941 TET2 "Angioimmunoblastic Lymphadenopathies" MONDO_0004977 "Disgenet " 25947 KLHL24 "Epidermolysis Bullosa Simplex" MONDO_0007550 "Disgenet " 25947 KLHL24 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 25947 KLHL24 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 2595 CYP1A1 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 2595 CYP1A1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2595 CYP1A1 COPD MONDO_0005002 "Disgenet " 2595 CYP1A1 "Cancer, Breast" MONDO_0007254 "Disgenet " 2595 CYP1A1 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 2595 CYP1A1 "Malignant neoplasm of gallbladder" MONDO_0005411 "Disgenet " 2595 CYP1A1 "Multiple Myeloma" MONDO_0009693 "Disgenet " 2595 CYP1A1 "lung injury" "Disgenet " 2595 CYP1A1 "Ovary Syndrome, Polycystic" MONDO_0008487 "Disgenet " 2595 CYP1A1 "Gallbladder Neoplasm" MONDO_0005411 "Disgenet " 2595 CYP1A1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 2595 CYP1A1 Pneumonia MONDO_0005249 "Disgenet " 2595 CYP1A1 Hypospadia MONDO_0005345 "Disgenet " 2595 CYP1A1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 2595 CYP1A1 "Unspecified chronic bronchitis" MONDO_0003781 "Disgenet " 2595 CYP1A1 "Arthritic Psoriasis" MONDO_0011849 "Disgenet " 2595 CYP1A1 "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 2595 CYP1A1 "High blood pressure" MONDO_0005044 "Disgenet " 2595 CYP1A1 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 2595 CYP1A1 "Infertility, Male" MONDO_0005372 "Disgenet " 2595 CYP1A1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 2595 CYP1A1 Psoriases MONDO_0005083 "Disgenet " 2595 CYP1A1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 2595 CYP1A1 "Parkinson Disease" MONDO_0014796 "Disgenet " 2595 CYP1A1 "malignant squamous cell neoplasm of oral cavity (diagnosis)" MONDO_0004958 "Disgenet " 2595 CYP1A1 "Head and Neck Neoplasms" MONDO_0005586 "Disgenet " 2595 CYP1A1 Endometrium MONDO_0011962 "Disgenet " 2595 CYP1A1 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 2595 CYP1A1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 2595 CYP1A1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 2595 CYP1A1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 2595 CYP1A1 ALL MONDO_0004967 "Disgenet " 2595 CYP1A1 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 2595 CYP1A1 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 2595 CYP1A1 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 2595 CYP1A1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 2595 CYP1A1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 2595 CYP1A1 "Kidney Neoplasm" MONDO_0002367 "Disgenet " 2596 CYP1A2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 2596 CYP1A2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 2596 CYP1A2 "Lung Neoplasm" MONDO_0002732 "Disgenet " 2596 CYP1A2 "Porphyria cutanea tarda" MONDO_0008296 "Disgenet " 2596 CYP1A2 Endometrium MONDO_0011962 "Disgenet " 2596 CYP1A2 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 2596 CYP1A2 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 2596 CYP1A2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 2596 CYP1A2 COPD MONDO_0005002 "Disgenet " 2596 CYP1A2 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 2596 CYP1A2 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 2596 CYP1A2 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 2596 CYP1A2 ALL MONDO_0004967 "Disgenet " 2596 CYP1A2 "Cancer, Breast" MONDO_0007254 "Disgenet " 2596 CYP1A2 Schizophrenias MONDO_0005090 "Disgenet " 25964 RETREG1 "Hereditary Sensory Autonomic Neuropathy, Type 2" MONDO_0019941 "Disgenet " 25964 RETREG1 "hereditary sensory and autonomic neuropathy" MONDO:0015364 "ClinGen " 25964 RETREG1 "Hereditary sensory and autonomic neuropathy, type II (disorder)" MONDO_0019941 "Disgenet " 25964 RETREG1 "Hereditary Sensory and Autonomic Neuropathies" MONDO_0015364 "Disgenet " 2597 CYP1B1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 2597 CYP1B1 "CYP1B1-related glaucoma with or without anterior segment dysgenesis" MONDO:0800472 "ClinGen " 2597 CYP1B1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 2597 CYP1B1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 2597 CYP1B1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2597 CYP1B1 Obesity MONDO_0019182 "Disgenet " 2597 CYP1B1 ASMD MONDO_0019503 "Disgenet " 2597 CYP1B1 "Fatty Liver" MONDO_0004790 "Disgenet " 2597 CYP1B1 "Primary congenital glaucoma" MONDO_0000365 "Disgenet " 2597 CYP1B1 "Primary open-angle glaucoma" MONDO_0100553 "Disgenet " 2597 CYP1B1 "Cancer, Breast" MONDO_0007254 "Disgenet " 2597 CYP1B1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 2597 CYP1B1 "Cancer, Squamous Cell" MONDO_0002532 "Disgenet " 2597 CYP1B1 Adenoma MONDO_0004972 "Disgenet " 2597 CYP1B1 ALL MONDO_0004967 "Disgenet " 2597 CYP1B1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 2597 CYP1B1 "Peters anomaly" MONDO_0011414 "Disgenet " 2597 CYP1B1 "Juvenile glaucoma" MONDO_0020367 "Disgenet " 2597 CYP1B1 Hydrophthalmos MONDO_0009277 "Disgenet " 25990 AMBRA1 Schizophrenias MONDO_0005090 "Disgenet " 25994 NSUN2 "Global developmental delay" "Disgenet " 25994 NSUN2 "syndromic intellectual disability" MONDO:0000508 "ClinGen " 25994 NSUN2 RASopathy MONDO:0021060 "ClinGen " 25994 NSUN2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 25994 NSUN2 MRT5 MONDO_0012613 "Disgenet " 26002 CASZ1 "1p36 Deletion Syndrome" MONDO_0011929 "Disgenet " 26002 CASZ1 "Cerebrovascular accident" MONDO_0005098 "Disgenet " 26002 CASZ1 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 26002 CASZ1 "congenital heart disease" MONDO:0005453 "ClinGen " 26002 CASZ1 "congenital heart disorder" MONDO_0005453 "Disgenet " 26006 TTC19 "Mitochondrial Complex III Deficiency" MONDO_0015448 "Disgenet " 26006 TTC19 "mitochondrial disease" MONDO:0044970 "ClinGen " 26006 TTC19 "Leigh syndrome" MONDO:0009723 "ClinGen " 26019 BPNT2 "chondrodysplasia with joint dislocations, gPAPP type" MONDO:0013561 "ClinGen " 26019 BPNT2 "CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE" MONDO_0013561 "Disgenet " 26019 BPNT2 chondrodysplasia MONDO_0022723 "Disgenet " 2602 CYP24A1 Osteoporoses MONDO_0005298 "Disgenet " 2602 CYP24A1 "Autosomal Recessive Infantile Hypercalcemia" MONDO_0000212 "Disgenet " 2602 CYP24A1 "adenoma of large intestine" MONDO_0005484 "Disgenet " 2602 CYP24A1 "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 2602 CYP24A1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 2602 CYP24A1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 2602 CYP24A1 "malignant squamous cell neoplasm of oral cavity (diagnosis)" MONDO_0004958 "Disgenet " 2602 CYP24A1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 2602 CYP24A1 Hypercalcemia MONDO_0001566 "Disgenet " 2602 CYP24A1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 2602 CYP24A1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 2602 CYP24A1 "CARCINOMA OF LUNG" MONDO_0005138 "Disgenet " 26022 TRMT10C "mitochondrial disease" MONDO:0044970 "ClinGen " 26022 TRMT10C COXPD30 MONDO_0014856 "Disgenet " 26022 TRMT10C "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 2603 CYP26A1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 26031 PIGV HPMRS1 MONDO_0016596 "Disgenet " 26031 PIGV "hyperphosphatasia with intellectual disability syndrome 1" MONDO:0009398 "ClinGen " 26031 PIGV "Hyperphosphatasia with Mental Retardation" MONDO_0016596 "Disgenet " 26033 PUS7 "INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE" MONDO_0032687 "Disgenet " 26034 SDHAF2 Paraganglioma MONDO_0000448 "Disgenet " 26034 SDHAF2 "hereditary pheochromocytoma-paraganglioma" MONDO:0017366 "ClinGen " 26034 SDHAF2 Pheochromocytoma MONDO_0008233 "Disgenet " 26034 SDHAF2 PGL2 MONDO_0011121 "Disgenet " 26038 TMEM127 Pheochromocytoma MONDO_0008233 "Disgenet " 26038 TMEM127 "hereditary pheochromocytoma-paraganglioma" MONDO:0017366 "ClinGen " 2605 CYP27A1 "cerebrotendinous xanthomatosis" MONDO:0008948 "ClinGen " 2605 CYP27A1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 2605 CYP27A1 "Bile Duct Obstructions" MONDO_0001751 "Disgenet " 2605 CYP27A1 Atherosclerosis MONDO_0005311 "Disgenet " 2605 CYP27A1 "Bogaert-Scherer-Epstein Disease, Van" MONDO_0008948 "Disgenet " 26050 TMEM70 "mitochondrial disease" MONDO:0044970 "ClinGen " 26050 TMEM70 "Isolated ATP synthase deficiency" MONDO_0014471 "Disgenet " 26050 TMEM70 Cardiomyopathy MONDO_0004994 "Disgenet " 26052 INTS11 NEDMLOB MONDO_0957386 "Disgenet " 26053 THG1L SCAR28 MONDO_0032923 "Disgenet " 26054 SLC25A38 "Autosomal recessive sideroblastic anemia (disorder)" MONDO_0016828 "Disgenet " 26054 SLC25A38 "sex-linked hypochromic sideroblastic anemia (diagnosis)" MONDO_0020721 "Disgenet " 26054 SLC25A38 "ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY" MONDO_0008785 "Disgenet " 26054 SLC25A38 "Anemia, Sideroblastic" MONDO_0015194 "Disgenet " 26058 LAGE3 "Microcephaly nephrosis syndrome" MONDO_0009627 "Disgenet " 26058 LAGE3 "GALLOWAY-MOWAT SYNDROME 2, X-LINKED" MONDO_0033006 "Disgenet " 2606 CYP27B1 Obesity MONDO_0019182 "Disgenet " 2606 CYP27B1 VDD1 MONDO_0009924 "Disgenet " 2606 CYP27B1 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 2606 CYP27B1 "Rickets, active" MONDO_0024299 "Disgenet " 2606 CYP27B1 Rickets MONDO_0005520 "Disgenet " 2606 CYP27B1 Hypercalcemia MONDO_0001566 "Disgenet " 2608 CYP2A13 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 2608 CYP2A13 Alcoholism MONDO_0002046 "Disgenet " 26090 CCDC40 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 26090 CCDC40 CILD15 MONDO_0013435 "Disgenet " 26090 CCDC40 "primary ciliary dyskinesia 15" MONDO:0013435 "ClinGen " 26113 TCTN1 CPD4 MONDO_0018772 "Disgenet " 26144 PALB2 "FANCONI ANEMIA, COMPLEMENTATION GROUP N" MONDO_0012565 "Disgenet " 26144 PALB2 "ovarian epithelial cancer" MONDO_0005140 "Disgenet " 26144 PALB2 "breast neoplasm malignant female carcinoma" MONDO_0004379 "Disgenet " 26144 PALB2 "Malignant neoplasm of breast (female), unspecified" MONDO_0004379 "Disgenet " 26144 PALB2 "Cancer Syndrome, Hereditary" MONDO_0015356 "Disgenet " 26144 PALB2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 26144 PALB2 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 26144 PALB2 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 26144 PALB2 "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 26144 PALB2 "bilateral breast cancer" MONDO_0003982 "Disgenet " 26144 PALB2 "PALB2-related cancer predisposition" MONDO:0700272 "ClinGen " 26144 PALB2 "Fanconi anemia complementation group N" MONDO:0012565 "ClinGen " 26144 PALB2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 26144 PALB2 "Hereditary Breast and Ovarian Cancer Syndrome" MONDO_0003582 "Disgenet " 26144 PALB2 "Malignant neoplasm of pancreas" MONDO_0021040 "Disgenet " 26144 PALB2 "Fanconi Anemia" MONDO_0019391 "Disgenet " 26144 PALB2 "familial cancer of breast" MONDO_0016419 "Disgenet " 26144 PALB2 "Triple-Negative Breast Cancers" MONDO_0005494 "Disgenet " 26144 PALB2 "Pancreatic carcinoma" MONDO_0005192 "Disgenet " 26144 PALB2 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 26144 PALB2 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 26144 PALB2 "Hereditary Pancreatic Carcinoma" MONDO_0015278 "Disgenet " 26144 PALB2 "Familial Malignant Neoplasm" "Disgenet " 26144 PALB2 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 26144 PALB2 "Cancer, Breast" MONDO_0007254 "Disgenet " 26145 LDAH "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 26147 AGBL5 RP75 MONDO_0014871 "Disgenet " 26147 AGBL5 "inherited retinal dystrophy" MONDO:0019118 "ClinGen " 26147 AGBL5 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 26158 ELMOD3 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 26158 ELMOD3 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 26158 ELMOD3 "DEAFNESS, AUTOSOMAL RECESSIVE 88" MONDO_0014182 "Disgenet " 26162 PYROXD1 "myofibrillar myopathy 8" MONDO:0014993 "ClinGen " 26162 PYROXD1 MFM8 MONDO_0014993 "Disgenet " 26162 PYROXD1 "Myofibrillar myopathy" MONDO_0018943 "Disgenet " 26169 CTC1 "Dyskeratosis Congenita" MONDO_0015780 "Disgenet " 26169 CTC1 "Retinal telangiectasia" MONDO_0004348 "Disgenet " 26169 CTC1 "CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)" MONDO_0012815 "Disgenet " 26178 FHOD3 Cardiomyopathy MONDO_0004994 "Disgenet " 26178 FHOD3 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 26178 FHOD3 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 26178 FHOD3 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 26182 COLGALT1 "BRAIN SMALL VESSEL DISEASE 3" MONDO_0100105 "Disgenet " 26182 COLGALT1 "brain small vessel disease 3" MONDO:0100105 "ClinGen " 26190 MTMR14 CNM1 MONDO_0018947 "Disgenet " 26193 CSPP1 "JOUBERT SYNDROME 21" MONDO_0014288 "Disgenet " 26193 CSPP1 "Joubert syndrome 21" MONDO:0014288 "ClinGen " 26193 CSPP1 CPD4 MONDO_0018772 "Disgenet " 26197 TOP6BL "Complete hydatidiform mole" MONDO_0006248 "Disgenet " 262 ADORA1 Schizophrenias MONDO_0005090 "Disgenet " 262 ADORA1 Asthma MONDO_0004979 "Disgenet " 26200 STN1 "CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)" MONDO_0012815 "Disgenet " 26200 STN1 Melanoma MONDO_0005105 "Disgenet " 26208 NSUN3 "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48" MONDO_0033566 "Disgenet " 26219 FUZ "Defect, Neural Tube" MONDO_0018075 "Disgenet " 2622 CYP2C8 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 2622 CYP2C8 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 26222 FAR1 "fatty acyl-CoA reductase 1 deficiency" MONDO:0014510 "ClinGen " 26222 FAR1 "fatty acyl-CoA reductase 1 upregulation" MONDO:0100230 "ClinGen " 26222 FAR1 PFCRD MONDO_0014510 "Disgenet " 2623 CYP2C9 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 2623 CYP2C9 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 2623 CYP2C9 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 2623 CYP2C9 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 2623 CYP2C9 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 2623 CYP2C9 "High blood pressure" MONDO_0005044 "Disgenet " 2623 CYP2C9 Hypoglycemia MONDO_0004946 "Disgenet " 26232 NABP1 "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 2625 CYP2D6 ALL MONDO_0004967 "Disgenet " 2625 CYP2D6 "Autoimmune Hepatitides" MONDO_0016264 "Disgenet " 2625 CYP2D6 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 2625 CYP2D6 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 2625 CYP2D6 "Depressive neurosis" MONDO_0002050 "Disgenet " 2625 CYP2D6 Depression MONDO_0002050 "Disgenet " 2625 CYP2D6 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 2625 CYP2D6 "Alzheimer Disease" MONDO_0012630 "Disgenet " 2625 CYP2D6 Schizophrenias MONDO_0005090 "Disgenet " 2625 CYP2D6 "Parkinson Disease" MONDO_0014796 "Disgenet " 2625 CYP2D6 "Breast Neoplasms" MONDO_0021100 "Disgenet " 2625 CYP2D6 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 2625 CYP2D6 "manganese poisoning" MONDO_0017638 "Disgenet " 2625 CYP2D6 "Affective Disorders" MONDO_0005371 "Disgenet " 2625 CYP2D6 "Opioid dependence" MONDO_0005530 "Disgenet " 2625 CYP2D6 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2625 CYP2D6 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 26257 PDZD7 "DEAFNESS, AUTOSOMAL RECESSIVE 57" MONDO_0033201 "Disgenet " 26257 PDZD7 USH2C MONDO_0011558 "Disgenet " 26257 PDZD7 "hearing loss, autosomal recessive" MONDO:0019588 "ClinGen " 26257 PDZD7 "DEAFNESS, AUTOSOMAL RECESSIVE" MONDO_0019588 "Disgenet " 26257 PDZD7 "Usher syndrome" MONDO_0019501 "Disgenet " 26257 PDZD7 Hypoacusis MONDO_0005365 "Disgenet " 26257 PDZD7 "Usher Syndrome Type 2" MONDO_0016484 "Disgenet " 26262 TTI2 MRT39 MONDO_0014238 "Disgenet " 26267 POMK alpha-Dystroglycanopathies MONDO_0000171 "Disgenet " 26267 POMK "Walker-Warburg congenital muscular dystrophy" MONDO_0000171 "Disgenet " 26267 POMK MDDGA12 MONDO_0014101 "Disgenet " 26267 POMK MDDGC12 MONDO_0014489 "Disgenet " 26270 PIEZO2 "Congenital joint contractures" MONDO_0022823 "Disgenet " 26270 PIEZO2 "distal arthrogryposis" MONDO_0019942 "Disgenet " 26270 PIEZO2 "MARDEN-WALKER SYNDROME" MONDO_0009564 "Disgenet " 26270 PIEZO2 "ARTHROGRYPOSIS, DISTAL, TYPE 5" MONDO_0007158 "Disgenet " 26270 PIEZO2 DA3 MONDO_0007252 "Disgenet " 26270 PIEZO2 Arthrogryposes MONDO_0015168 "Disgenet " 26270 PIEZO2 Scolioses MONDO_0005392 "Disgenet " 26274 NARS2 "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24" MONDO_0014547 "Disgenet " 26274 NARS2 "Leigh syndrome" MONDO:0009723 "ClinGen " 26274 NARS2 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 26274 NARS2 DFNB94 MONDO_0032749 "Disgenet " 26274 NARS2 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 26274 NARS2 "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 26274 NARS2 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 26276 CAMKMT "Atypical hypotonia cystinuria syndrome (disorder)" MONDO_0016539 "Disgenet " 26276 CAMKMT "2p21 microdeletion syndrome (disorder)" MONDO_0015583 "Disgenet " 26291 BBS10 "BBS10-related ciliopathy" MONDO:0700237 "ClinGen " 26291 BBS10 "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 26291 BBS10 "BARDET-BIEDL SYNDROME 10" MONDO_0014438 "Disgenet " 26291 BBS10 BBS1 MONDO_0008854 "Disgenet " 26293 SPEF2 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 26293 SPEF2 "primary ciliary dyskinesia" MONDO:0016575 "ClinGen " 263 ADORA2A "Damage, Reperfusion" MONDO_0005203 "Disgenet " 263 ADORA2A "Anxiety Disorder" MONDO_0005618 "Disgenet " 263 ADORA2A Schizophrenias MONDO_0005090 "Disgenet " 263 ADORA2A "Movement Disorders" MONDO_0005395 "Disgenet " 263 ADORA2A Sepsis MONDO_0005229 "Disgenet " 263 ADORA2A "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 263 ADORA2A Depression MONDO_0002050 "Disgenet " 263 ADORA2A "Disorders, Panic" MONDO_0005383 "Disgenet " 263 ADORA2A "Acute encephalopathy with biphasic seizures and late reduced diffusion" MONDO_0018198 "Disgenet " 26308 CDHR3 Asthma MONDO_0004979 "Disgenet " 2631 CYP2E1 "Parkinson Disease" MONDO_0014796 "Disgenet " 2631 CYP2E1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 2631 CYP2E1 "Abuse, Alcohol" MONDO_0002046 "Disgenet " 2631 CYP2E1 "Liver Neoplasm" MONDO_0002691 "Disgenet " 2631 CYP2E1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 2631 CYP2E1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 2631 CYP2E1 Adenocarcinoma MONDO_0004970 "Disgenet " 2631 CYP2E1 ALL MONDO_0004967 "Disgenet " 2631 CYP2E1 Schizophrenias MONDO_0005090 "Disgenet " 2631 CYP2E1 "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 2631 CYP2E1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2631 CYP2E1 "Malignant neoplasm of nasopharynx" MONDO_0015459 "Disgenet " 2631 CYP2E1 "Cancer, Nasopharyngeal" MONDO_0015459 "Disgenet " 2631 CYP2E1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 2631 CYP2E1 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 2631 CYP2E1 "Alcoholic Liver Cirrhosis" MONDO_0006644 "Disgenet " 2631 CYP2E1 "Diseases, Liver" MONDO_0005154 "Disgenet " 2631 CYP2E1 "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 2631 CYP2E1 Obesity MONDO_0019182 "Disgenet " 2631 CYP2E1 Alcoholism MONDO_0002046 "Disgenet " 2631 CYP2E1 Asthma MONDO_0004979 "Disgenet " 2631 CYP2E1 COPD MONDO_0005002 "Disgenet " 2631 CYP2E1 "malignant squamous cell neoplasm of oral cavity (diagnosis)" MONDO_0004958 "Disgenet " 2631 CYP2E1 Gliomas MONDO_0021042 "Disgenet " 2631 CYP2E1 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 2631 CYP2E1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 2631 CYP2E1 "Fatty Liver" MONDO_0004790 "Disgenet " 26321 ASPRV1 "ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT" MONDO_0007812 "Disgenet " 2634 CYP2J2 "High blood pressure" MONDO_0005044 "Disgenet " 2634 CYP2J2 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 26361 HEPACAM "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 26361 HEPACAM "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability" MONDO:0013491 "ClinGen " 26361 HEPACAM "megalencephalic leukoencephalopathy with subcortical cysts 2A" MONDO:0013490 "ClinGen " 26361 HEPACAM MLC2A MONDO_0013490 "Disgenet " 26361 HEPACAM "MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1" MONDO_0000137 "Disgenet " 26361 HEPACAM MLC2B MONDO_0013491 "Disgenet " 26361 HEPACAM "MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS" MONDO_0024555 "Disgenet " 2637 CYP3A4 Schizophrenias MONDO_0005090 "Disgenet " 2637 CYP3A4 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 2637 CYP3A4 "Breast Neoplasms" MONDO_0021100 "Disgenet " 2637 CYP3A4 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2637 CYP3A4 "Hepatitis C" MONDO_0005231 "Disgenet " 2637 CYP3A4 "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 2638 CYP3A5 Schizophrenias MONDO_0005090 "Disgenet " 2638 CYP3A5 Nephropathy MONDO_0005240 "Disgenet " 2638 CYP3A5 ALL MONDO_0004967 "Disgenet " 2638 CYP3A5 neurotoxicity MONDO_0005527 "Disgenet " 2638 CYP3A5 "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 2638 CYP3A5 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 26392 PTCHD1 "non-syndromic X-linked intellectual disability" MONDO:0019181 "ClinGen " 26392 PTCHD1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 26392 PTCHD1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 26392 PTCHD1 "Childhood autism" MONDO_0005260 "Disgenet " 26392 PTCHD1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 264 ADORA2B "Damage, Reperfusion" MONDO_0005203 "Disgenet " 26401 MARVELD2 Hypoacusis MONDO_0005365 "Disgenet " 26401 MARVELD2 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 26401 MARVELD2 "DEAFNESS, AUTOSOMAL RECESSIVE 49" MONDO_0012420 "Disgenet " 26404 NADK2 "progressive encephalopathy with leukodystrophy due to DECR deficiency" MONDO:0014464 "ClinGen " 26404 NADK2 "Deficiency of 2,4-dienoyl-CoA reductase" MONDO_0014464 "Disgenet " 26406 SCLT1 "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 2641 CYP46A1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 26437 TSNARE1 Schizophrenias MONDO_0005090 "Disgenet " 2644 CYP4B1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 2644 CYP4B1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 26440 FAAH2 "X-linked complex neurodevelopmental disorder" MONDO:0100148 "ClinGen " 26498 ZNF513 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 26498 ZNF513 RP58 MONDO_0013328 "Disgenet " 26509 PHETA1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 2651 CYP7A1 "Bile Duct Obstructions" MONDO_0001751 "Disgenet " 2651 CYP7A1 Hypercholesteremias "Disgenet " 26513 NSMCE2 "Cancer, Breast" MONDO_0007254 "Disgenet " 26513 NSMCE2 "Seckel syndrome 10" MONDO:0014991 "ClinGen " 26521 LOXHD1 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 26521 LOXHD1 "DEAFNESS, AUTOSOMAL RECESSIVE 77" MONDO_0013119 "Disgenet " 26521 LOXHD1 "Dystrophy, Fuch's Endothelial" MONDO_0005321 "Disgenet " 26521 LOXHD1 Hypoacusis MONDO_0005365 "Disgenet " 26527 HGSNAT RP73 MONDO_0014687 "Disgenet " 26527 HGSNAT "inherited retinal dystrophy" MONDO:0019118 "ClinGen " 26527 HGSNAT "mucopolysaccharidosis type 3C" MONDO:0009657 "ClinGen " 26527 HGSNAT MPS3C MONDO_0009657 "Disgenet " 26527 HGSNAT "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 26527 HGSNAT "Mucopolysaccharidosis III" MONDO_0018937 "Disgenet " 2653 CYP8B1 "Bile Duct Obstructions" MONDO_0001751 "Disgenet " 26530 CFAP53 Dextrocardia MONDO_0015661 "Disgenet " 26530 CFAP53 Heterotaxy MONDO_0018677 "Disgenet " 26530 CFAP53 "Inversus, Situs" MONDO_0010029 "Disgenet " 26530 CFAP53 "heterotaxia syndrome" MONDO_0018677 "Disgenet " 26532 DNHD1 "SPERMATOGENIC FAILURE 65" MONDO_0030531 "Disgenet " 2654 CCN1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 2654 CCN1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 2654 CCN1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 2654 CCN1 Gliomas MONDO_0021042 "Disgenet " 2654 CCN1 "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 26551 DZIP1L PKD5 MONDO_0033281 "Disgenet " 26551 DZIP1L "Polycystic Kidney, Autosomal Recessive" MONDO_0009889 "Disgenet " 26551 DZIP1L "autosomal recessive polycystic kidney disease" MONDO:0009889 "ClinGen " 26558 HYLS1 CPD4 MONDO_0018772 "Disgenet " 26558 HYLS1 "hydrolethalus syndrome" MONDO:0006037 "ClinGen " 26558 HYLS1 "HYDROLETHALUS SYNDROME 1" MONDO_0006037 "Disgenet " 26558 HYLS1 "Hydrolethalus syndrome" MONDO_0006037 "Disgenet " 26559 ZFYVE27 "hereditary spastic paraplegia 33" MONDO:0012448 "ClinGen " 26559 ZFYVE27 "Paraplegias, Spastic" MONDO_0003757 "Disgenet " 26559 ZFYVE27 SPG33 MONDO_0012448 "Disgenet " 26576 KY "Myofibrillar myopathy" MONDO_0018943 "Disgenet " 26600 WDR81 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 26600 WDR81 "Dysequilibrium syndrome" MONDO_0009133 "Disgenet " 2661 DAB1 "Childhood autism" MONDO_0005260 "Disgenet " 2661 DAB1 SCA37 MONDO_0014410 "Disgenet " 26611 HECTD4 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 26624 KDF1 "ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE" MONDO_0015024 "Disgenet " 26624 KDF1 "ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type" MONDO:0015024 "ClinGen " 26648 BBS12 "BARDET-BIEDL SYNDROME 12" MONDO_0014440 "Disgenet " 26648 BBS12 "BBS12-related ciliopathy" MONDO:1040045 "ClinGen " 26648 BBS12 "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 2665 CD55 "Enteropathies, Exudative" MONDO_0009174 "Disgenet " 2665 CD55 "COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY" MONDO_0009174 "Disgenet " 2665 CD55 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 2665 CD55 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2666 DAG1 FCMD MONDO_0000171 "Disgenet " 2666 DAG1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 2666 DAG1 "Muscular Dystrophy, Duchenne" MONDO_0010679 "Disgenet " 2666 DAG1 "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9" MONDO_0013440 "Disgenet " 2666 DAG1 Myopathy MONDO_0003939 "Disgenet " 2666 DAG1 "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 2666 DAG1 "Lassa Fever" MONDO_0005820 "Disgenet " 2666 DAG1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2666 DAG1 alpha-Dystroglycanopathies MONDO_0000171 "Disgenet " 2666 DAG1 "Walker-Warburg congenital muscular dystrophy" MONDO_0000171 "Disgenet " 2666 DAG1 "qualitative or quantitative defects of alpha-dystroglycan" MONDO:0018282 "ClinGen " 2666 DAG1 MDDGA9 MONDO_0014683 "Disgenet " 2666 DAG1 "Muscle-Eye-Brain Disease" MONDO_0000171 "Disgenet " 26661 RNF168 "RIDDLE SYNDROME" MONDO_0012764 "Disgenet " 26661 RNF168 "RIDDLE syndrome" MONDO:0012764 "ClinGen " 26676 CFAP58 "SPERMATOGENIC FAILURE 49" MONDO_0030868 "Disgenet " 26684 CFAP43 "Hydrocephalus, Normal Pressure" MONDO_0009366 "Disgenet " 26684 CFAP43 SPGF19 MONDO_0054723 "Disgenet " 26684 CFAP43 "spermatogenic failure 19" MONDO:0054723 "ClinGen " 26684 CFAP43 "primary ciliary dyskinesia" MONDO:0016575 "ClinGen " 26684 CFAP43 "normal pressure hydrocephalus" MONDO:0009366 "ClinGen " 26690 CEP120 "SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY" MONDO_0014577 "Disgenet " 26690 CEP120 "JOUBERT SYNDROME 31" MONDO_0033310 "Disgenet " 26690 CEP120 "Asphyxiating thoracic dystrophy" MONDO_0018770 "Disgenet " 26690 CEP120 CPD4 MONDO_0018772 "Disgenet " 26703 SYNE4 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 26724 ANKS6 "Polycystic kidney" MONDO_0020642 "Disgenet " 26724 ANKS6 "Kidney, Cystic" MONDO_0002473 "Disgenet " 26724 ANKS6 "NEPHRONOPHTHISIS 16" MONDO_0014158 "Disgenet " 26724 ANKS6 "nephronophthisis 16" MONDO:0014158 "ClinGen " 26724 ANKS6 "Inversus, Situs" MONDO_0010029 "Disgenet " 2673 DAP3 "Breast Neoplasms" MONDO_0021100 "Disgenet " 2674 DAPK1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 2674 DAPK1 "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 2674 DAPK1 Adenocarcinoma MONDO_0004970 "Disgenet " 2674 DAPK1 "Adenoid cystic carcinoma" MONDO_0003175 "Disgenet " 2674 DAPK1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 2674 DAPK1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 2674 DAPK1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 2674 DAPK1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 2674 DAPK1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 26742 NAT8L "N-acetylaspartate deficiency" MONDO:0013549 "ClinGen " 2675 DAPK2 "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 26757 CCDC88B Leprosy MONDO_0005124 "Disgenet " 26780 DAND5 Heterotaxy MONDO_0018677 "Disgenet " 26780 DAND5 "congenital heart disorder" MONDO_0005453 "Disgenet " 26780 DAND5 "congenital heart disease" MONDO:0005453 "ClinGen " 26784 MTRFR "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 26784 MTRFR "Leigh syndrome" MONDO:0009723 "ClinGen " 26784 MTRFR SPG55 MONDO_0014020 "Disgenet " 26784 MTRFR "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7" MONDO_0013306 "Disgenet " 26784 MTRFR "mitochondrial disease" MONDO:0044970 "ClinGen " 26784 MTRFR "Paraplegias, Spastic" MONDO_0003757 "Disgenet " 26784 MTRFR "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 26789 LACC1 "Chronic Arthritis, Juvenile" MONDO_0011429 "Disgenet " 2681 DAXX "Islet cell carcinoma" MONDO_0005893 "Disgenet " 2681 DAXX "Neuroendocrine Tumors" MONDO_0019496 "Disgenet " 26814 RILPL1 OPDM MONDO_0025193 "Disgenet " 26821 CCDC141 "Hypogonadotropic hypogonadism" MONDO_0014102 "Disgenet " 26821 CCDC141 IHH MONDO_0007794 "Disgenet " 26837 AMER1 "Cleft hard palate with cleft soft palate" MONDO_0007336 "Disgenet " 26837 AMER1 "osteopathia striata with cranial sclerosis" MONDO:0010310 "ClinGen " 26837 AMER1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 26837 AMER1 "Childhood Renal Wilms' Tumor" MONDO_0024676 "Disgenet " 26837 AMER1 Nephroblastoma MONDO_0019004 "Disgenet " 26837 AMER1 OSCS MONDO_0010310 "Disgenet " 26881 GEN1 "Cancer, Breast" MONDO_0007254 "Disgenet " 26881 GEN1 "familial ovarian cancer" MONDO:0016248 "ClinGen " 26881 GEN1 "hereditary breast carcinoma" MONDO:0016419 "ClinGen " 26887 TAPT1 OCLSBG MONDO_0014821 "Disgenet " 2689 DBH "Noradrenaline deficiency" MONDO_0009123 "Disgenet " 2689 DBH "Parkinson Disease" MONDO_0014796 "Disgenet " 2689 DBH "Attention-Deficit Disorder NOS" MONDO_0005302 "Disgenet " 2689 DBH "Migraine with aura" MONDO_0005475 "Disgenet " 2689 DBH "Depressive neurosis" MONDO_0002050 "Disgenet " 2689 DBH "Drug-induced paranoid state" "Disgenet " 2689 DBH "Depressions, Unipolar" MONDO_0002050 "Disgenet " 2689 DBH "Disorders, Paranoid" "Disgenet " 2689 DBH "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 2689 DBH "Affective Disorders" MONDO_0005371 "Disgenet " 2689 DBH Neuroblastoma MONDO_0005072 "Disgenet " 2689 DBH "High blood pressure" MONDO_0005044 "Disgenet " 2689 DBH "Bipolar Disorders" MONDO_0004985 "Disgenet " 2689 DBH Alcoholism MONDO_0002046 "Disgenet " 2689 DBH Pheochromocytoma MONDO_0008233 "Disgenet " 2689 DBH "Cocaine dependence" MONDO_0005186 "Disgenet " 2689 DBH Depression MONDO_0002050 "Disgenet " 26894 TPRN "DEAFNESS, AUTOSOMAL RECESSIVE 79" MONDO_0013215 "Disgenet " 26894 TPRN "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 26899 TMTC3 "LISSENCEPHALY 8" MONDO_0014992 "Disgenet " 26899 TMTC3 "Periventricular neuronal heterotopia" MONDO_0020341 "Disgenet " 26901 OTOGL "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 26922 ERCC6L2 Pancytopenia MONDO_0001529 "Disgenet " 26926 JAGN1 "NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE" MONDO_0014456 "Disgenet " 26926 JAGN1 Neutropenia MONDO_0001475 "Disgenet " 26926 JAGN1 "Infantile genetic agranulocytosis" MONDO_0018542 "Disgenet " 26929 CDIN1 "ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I" MONDO_0014285 "Disgenet " 26929 CDIN1 "Anemia, Dyserythropoietic, Congenital" MONDO_0019403 "Disgenet " 26938 HIKESHI "LEUKODYSTROPHY, HYPOMYELINATING, 13" MONDO_0014813 "Disgenet " 26938 HIKESHI "hypomyelinating leukodystrophy 13" MONDO:0014813 "ClinGen " 26941 UFC1 "NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH" MONDO_0060752 "Disgenet " 26944 TMEM138 JBTS16 MONDO_0013764 "Disgenet " 26944 TMEM138 Ciliopathies MONDO_0005308 "Disgenet " 26944 TMEM138 ciliopathy MONDO:0005308 "ClinGen " 2695 DBN1 Schizophrenias MONDO_0005090 "Disgenet " 2695 DBN1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 26953 BLTP1 Hydrocephaly MONDO_0001150 "Disgenet " 26953 BLTP1 Arthrogryposes MONDO_0015168 "Disgenet " 26953 BLTP1 ALKKUCS MONDO_0060631 "Disgenet " 2696 DBNL "Bipolar Disorders" MONDO_0004985 "Disgenet " 2697 DBP Osteoporoses MONDO_0005298 "Disgenet " 26970 COX20 "mitochondrial disease" MONDO:0044970 "ClinGen " 26970 COX20 "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11" MONDO_0033645 "Disgenet " 2698 DBT "maple syrup urine disease" MONDO:0009563 "ClinGen " 2698 DBT "Branched Chain Ketoaciduria" MONDO_0023691 "Disgenet " 26988 METTL23 MRT44 MONDO_0014409 "Disgenet " 26991 TMEM132E "DEAFNESS, AUTOSOMAL RECESSIVE 99" MONDO_0032776 "Disgenet " 26991 TMEM132E "hearing loss, autosomal recessive" MONDO:0019588 "ClinGen " 26992 SPNS2 "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 26993 ZSWIM7 "Testicular azoospermia" "Disgenet " 26995 ZNF816 Psoriases MONDO_0005083 "Disgenet " 270 PARP1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 270 PARP1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 270 PARP1 Arthritides MONDO_0005578 "Disgenet " 270 PARP1 Nephritides MONDO_0001166 "Disgenet " 270 PARP1 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 270 PARP1 Atherosclerosis MONDO_0005311 "Disgenet " 270 PARP1 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 270 PARP1 Obesity MONDO_0019182 "Disgenet " 270 PARP1 Pneumonia MONDO_0005249 "Disgenet " 270 PARP1 "Brain Injuries" MONDO_0043510 "Disgenet " 270 PARP1 Dermatitides MONDO_0002406 "Disgenet " 270 PARP1 "lung injury" "Disgenet " 270 PARP1 Nephropathy MONDO_0005240 "Disgenet " 270 PARP1 "carcinoma of stomach (diagnosis)" MONDO_0004950 "Disgenet " 270 PARP1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 270 PARP1 "Parkinson Disease" MONDO_0014796 "Disgenet " 270 PARP1 "Multiple Myeloma" MONDO_0009693 "Disgenet " 270 PARP1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 270 PARP1 Melanoma MONDO_0005105 "Disgenet " 270 PARP1 "Cancer, Breast" MONDO_0007254 "Disgenet " 270 PARP1 Anemia MONDO_0002280 "Disgenet " 270 PARP1 Asthma MONDO_0004979 "Disgenet " 270 PARP1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 2700 DCLK1 Schizophrenias MONDO_0005090 "Disgenet " 2700 DCLK1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 27030 DNAJC21 SDS MONDO_0009833 "Disgenet " 27030 DNAJC21 "bone marrow failure syndrome 3" MONDO:0014887 "ClinGen " 27030 DNAJC21 Pancytopenia MONDO_0001529 "Disgenet " 27030 DNAJC21 "Inherited Bone Marrow Failure Syndrome" "Disgenet " 27049 PLEKHA7 "Angle Closure Glaucoma" MONDO_0001744 "Disgenet " 2705 DCN Gliomas MONDO_0021042 "Disgenet " 2705 DCN "Liver cell carcinoma" MONDO_0007256 "Disgenet " 2705 DCN CSCD MONDO_0012401 "Disgenet " 2705 DCN "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 2705 DCN "Glioma, malignant" MONDO_0100342 "Disgenet " 2707 ACE "Heart Failure, Diastolic" MONDO_0006727 "Disgenet " 2707 ACE Alcoholism MONDO_0002046 "Disgenet " 2707 ACE "Anderson Fabry Disease" MONDO_0010526 "Disgenet " 2707 ACE "Ankylosing spondylitis" MONDO_0005306 "Disgenet " 2707 ACE "Heart Valve Disease" MONDO_0002869 "Disgenet " 2707 ACE "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 2707 ACE "Multiple Myeloma" MONDO_0009693 "Disgenet " 2707 ACE "Aspiration Pneumonias" MONDO_0002572 "Disgenet " 2707 ACE "Infertility, Male" MONDO_0005372 "Disgenet " 2707 ACE "Hepatitides, Infectious" MONDO_0005790 "Disgenet " 2707 ACE "Mitral valve disease, unspecified" MONDO_0042967 "Disgenet " 2707 ACE "Mitral valve disorders" MONDO_0003767 "Disgenet " 2707 ACE "Purpura, Schoenlein Henoch" MONDO_0019167 "Disgenet " 2707 ACE "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 2707 ACE "Depressions, Unipolar" MONDO_0002050 "Disgenet " 2707 ACE "Lung Neoplasm" MONDO_0002732 "Disgenet " 2707 ACE "KIDNEY FAILURE" MONDO_0001106 "Disgenet " 2707 ACE "Depressive neurosis" MONDO_0002050 "Disgenet " 2707 ACE Leukemias MONDO_0005059 "Disgenet " 2707 ACE "Ischemic stroke" "Disgenet " 2707 ACE "Depressed mood" "Disgenet " 2707 ACE Asthma MONDO_0004979 "Disgenet " 2707 ACE "Respiratory Distress Syndrome, Adult" MONDO_0100130 "Disgenet " 2707 ACE "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2707 ACE "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 2707 ACE Nephritides MONDO_0001166 "Disgenet " 2707 ACE "Behcet Syndrome" MONDO_0007191 "Disgenet " 2707 ACE "Gaucher Disease" MONDO_0018150 "Disgenet " 2707 ACE "coronary artery restenosis" MONDO_0005355 "Disgenet " 2707 ACE "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 2707 ACE "Bipolar Disorders" MONDO_0004985 "Disgenet " 2707 ACE "Deficiencies, Muscle Phosphorylase" MONDO_0009293 "Disgenet " 2707 ACE "chronic schizophrenia" "Disgenet " 2707 ACE Cakut MONDO_0019719 "Disgenet " 2707 ACE "Pneumonia, Viral" MONDO_0006012 "Disgenet " 2707 ACE Polycythemias MONDO_0009892 "Disgenet " 2707 ACE "Anhydramnios (disorder)" "Disgenet " 2707 ACE "Childhood autism" MONDO_0005260 "Disgenet " 2707 ACE "Click-Murmur Syndrome, Mitral" MONDO_0004910 "Disgenet " 2707 ACE "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 2707 ACE "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 2707 ACE Anemia MONDO_0002280 "Disgenet " 2707 ACE Arrhythmia MONDO_0007263 "Disgenet " 2707 ACE "RENAL TUBULAR DYSGENESIS" MONDO_0017609 "Disgenet " 2707 ACE "Cancer, Breast" MONDO_0007254 "Disgenet " 2707 ACE Schizophrenias MONDO_0005090 "Disgenet " 2707 ACE "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 2707 ACE "Obstructive sleep apnea syndrome" MONDO_0007147 "Disgenet " 2707 ACE "Diseases, Lung" MONDO_0005275 "Disgenet " 2707 ACE "Cerebral Infarction" MONDO_0002679 "Disgenet " 2707 ACE SARS MONDO_0005091 "Disgenet " 2707 ACE "lung injury" "Disgenet " 2707 ACE COPD MONDO_0005002 "Disgenet " 2707 ACE "renal tubular dysgenesis - ACE" MONDO:0700337 "ClinGen " 2707 ACE "Chronic ischemic heart disease" MONDO_0005010 "Disgenet " 2707 ACE Beryllioses MONDO_0015274 "Disgenet " 2707 ACE "ISCHEMIC ENCEPH" MONDO_0005299 "Disgenet " 2707 ACE "Congestive heart failure" MONDO_0005252 "Disgenet " 2707 ACE "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 2707 ACE Pneumonia MONDO_0005249 "Disgenet " 2707 ACE "Bergers Disease" MONDO_0005342 "Disgenet " 2707 ACE "Hypertrophy, Left Ventricular" "Disgenet " 2707 ACE "Cerebrovascular accident" MONDO_0005098 "Disgenet " 2707 ACE "High blood pressure" MONDO_0005044 "Disgenet " 2707 ACE "Alzheimer Disease" MONDO_0012630 "Disgenet " 2707 ACE "Liver cell carcinoma" MONDO_0007256 "Disgenet " 2707 ACE Nephropathy MONDO_0005240 "Disgenet " 2707 ACE "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 2707 ACE "Disease, Schaumann" MONDO_0008399 "Disgenet " 2707 ACE "Coronary Disease" MONDO_0005010 "Disgenet " 2707 ACE "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 2707 ACE "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 2707 ACE "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 2707 ACE "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 2707 ACE "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 2707 ACE "Atrial Fibrillation" MONDO_0004981 "Disgenet " 2707 ACE "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 2707 ACE "Heart failure" MONDO_0005252 "Disgenet " 2707 ACE "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 2707 ACE "Cardiovascular Disease" MONDO_0004995 "Disgenet " 27089 CARMIL2 "Combined immunodeficiencies" MONDO_0015131 "Disgenet " 27089 CARMIL2 IMD58 MONDO_0029134 "Disgenet " 27089 CARMIL2 "severe combined immunodeficiency due to CARMIL2 deficiency" MONDO:0029134 "ClinGen " 27097 RBFOX3 epilepsy MONDO:0005027 "ClinGen " 27097 RBFOX3 "Epilepsies, Rolandic" MONDO_0007295 "Disgenet " 27102 KIF18B "Liver cell carcinoma" MONDO_0007256 "Disgenet " 2711 DCTN1 "Distal spinal muscular atrophy" MONDO_0001516 "Disgenet " 2711 DCTN1 "NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB" MONDO_0011879 "Disgenet " 2711 DCTN1 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 2711 DCTN1 "PERRY SYNDROME" MONDO_0008201 "Disgenet " 2711 DCTN1 Parkinsonism MONDO_0021095 "Disgenet " 2711 DCTN1 "amyotrophic lateral sclerosis" MONDO:0004976 "ClinGen " 2711 DCTN1 "Frontotemporal dementia" MONDO_0017276 "Disgenet " 2711 DCTN1 "Motor Neuron Disease" MONDO_0008780 "Disgenet " 2711 DCTN1 "AMYOTROPHIC LATERAL SCLEROSIS 1" MONDO_0005144 "Disgenet " 2716 DDAH2 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 2718 DDB2 XP5 MONDO_0010213 "Disgenet " 2718 DDB2 "Kaposis Disease" MONDO_0010215 "Disgenet " 2718 DDB2 "xeroderma pigmentosum group E" MONDO:0010213 "ClinGen " 27232 CFAP418 ciliopathy MONDO:0005308 "ClinGen " 27232 CFAP418 "Retinal dystrophy" MONDO_0019118 "Disgenet " 27232 CFAP418 "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 27232 CFAP418 "CONE-ROD DYSTROPHY 16" MONDO_0013786 "Disgenet " 27232 CFAP418 "BARDET-BIEDL SYNDROME 21" MONDO_0044308 "Disgenet " 27232 CFAP418 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 27232 CFAP418 "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 2726 DDIT3 Obesity MONDO_0019182 "Disgenet " 2726 DDIT3 CRC MONDO_0005335 "Disgenet " 2726 DDIT3 "Fatty Liver" MONDO_0004790 "Disgenet " 2726 DDIT3 "Hypertensions, Ocular" MONDO_0006875 "Disgenet " 2726 DDIT3 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 2726 DDIT3 "Myxoid liposarcoma" MONDO_0020561 "Disgenet " 2726 DDIT3 "Breast Neoplasms" MONDO_0021100 "Disgenet " 2727 DDO Schizophrenias MONDO_0005090 "Disgenet " 2728 DDOST "DDOST-congenital disorder of glycosylation" MONDO:0013789 "ClinGen " 2728 DDOST "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 2728 DDOST CDG1R MONDO_0013789 "Disgenet " 27288 ACSF3 "COMBINED MALONIC AND METHYLMALONIC ACIDURIA" MONDO_0013661 "Disgenet " 27288 ACSF3 "methylmalonic aciduria" MONDO_0002012 "Disgenet " 27288 ACSF3 "combined malonic and methylmalonic acidemia" MONDO:0013661 "ClinGen " 2730 DDR1 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 2730 DDR1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2730 DDR1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 2730 DDR1 Adenocarcinoma MONDO_0004970 "Disgenet " 2730 DDR1 Schizophrenias MONDO_0005090 "Disgenet " 2730 DDR1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 27302 IBA57 MMDS3 MONDO_0014132 "Disgenet " 27302 IBA57 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 27302 IBA57 "Multiple Mitochondrial Dysfunctions Syndrome" MONDO_0017338 "Disgenet " 27302 IBA57 "mitochondrial disease" MONDO:0044970 "ClinGen " 27302 IBA57 SPG74 MONDO_0014644 "Disgenet " 2731 DDR2 "WARBURG-CINOTTI SYNDROME" MONDO_0032579 "Disgenet " 2731 DDR2 "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 2731 DDR2 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 2731 DDR2 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 2731 DDR2 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 2731 DDR2 "SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE" MONDO_0010077 "Disgenet " 2731 DDR2 "malignant squamous cell neoplasm of oral cavity (diagnosis)" MONDO_0004958 "Disgenet " 2731 DDR2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 2731 DDR2 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 2731 DDR2 "warburg-cinotti syndrome" MONDO:0032579 "ClinGen " 2731 DDR2 "spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome" MONDO:0010077 "ClinGen " 27310 FLCN "Familial spontaneous pneumothorax" MONDO_0008259 "Disgenet " 27310 FLCN "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 27310 FLCN Hamartomas MONDO_0006499 "Disgenet " 27310 FLCN "chromophobe type renal cell carcinoma (diagnosis)" MONDO_0017885 "Disgenet " 27310 FLCN "benign oncocytoma of kidney" MONDO_0003825 "Disgenet " 27310 FLCN PTLS MONDO_0012574 "Disgenet " 27310 FLCN "obsolete Birt-Hogg-Dube syndrome" MONDO:0007607 "ClinGen " 27310 FLCN "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 27310 FLCN Cysts "Disgenet " 27310 FLCN "Cancer Syndrome, Hereditary" MONDO_0015356 "Disgenet " 27310 FLCN "PNEUMOTHORAX, PRIMARY SPONTANEOUS" MONDO_0002076 "Disgenet " 27310 FLCN hypernephroma MONDO_0005086 "Disgenet " 27310 FLCN "Spontaneous pneumothorax" MONDO_0002076 "Disgenet " 27310 FLCN "Birt-Hogg-Dube syndrome" MONDO_0018070 "Disgenet " 27310 FLCN "Renal cell carcinoma" MONDO_0005549 "Disgenet " 27337 ANO5 "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 27337 ANO5 MMD3 MONDO_0013222 "Disgenet " 27337 ANO5 "GNATHODIAPHYSEAL DYSPLASIA" MONDO_0008151 "Disgenet " 27337 ANO5 LGMD2L MONDO_0012652 "Disgenet " 27337 ANO5 Myopathy MONDO_0003939 "Disgenet " 27337 ANO5 "autosomal recessive limb-girdle muscular dystrophy" MONDO:0015152 "ClinGen " 27337 ANO5 "gnathodiaphyseal dysplasia" MONDO:0008151 "ClinGen " 27337 ANO5 "limb girdle muscular dystrophy" MONDO_0016971 "Disgenet " 27344 TMEM218 CPD4 MONDO_0018772 "Disgenet " 2735 DDX10 "Cancer, Breast" MONDO_0007254 "Disgenet " 2736 DDX11 "Warsaw breakage syndrome" MONDO:0013252 "ClinGen " 2736 DDX11 "WARSAW BREAKAGE SYNDROME" MONDO_0013252 "Disgenet " 27365 TECRL "Polymorphic catecholergic ventricular tachycardia" MONDO_0017990 "Disgenet " 27365 TECRL CPVT3 MONDO_0013529 "Disgenet " 27365 TECRL "catecholaminergic polymorphic ventricular tachycardia" MONDO:0017990 "ClinGen " 27375 MSRB3 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 27375 MSRB3 "DEAFNESS, AUTOSOMAL RECESSIVE 74" MONDO_0013386 "Disgenet " 2738 DHX15 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 27424 RBM20 "Arrhythmogenic right ventricular dysplasia" MONDO_0016587 "Disgenet " 27424 RBM20 "Left Ventricular Non-Compaction Syndrome" MONDO_0018901 "Disgenet " 27424 RBM20 CMD1A MONDO_0005021 "Disgenet " 27424 RBM20 "CARDIOMYOPATHY, DILATED, 1DD" MONDO_0013168 "Disgenet " 27424 RBM20 "Familial dilated cardiomyopathy" MONDO_0016333 "Disgenet " 27424 RBM20 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 27424 RBM20 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 27424 RBM20 Cardiomyopathy MONDO_0004994 "Disgenet " 27424 RBM20 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 27424 RBM20 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 27424 RBM20 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 2745 DDX3X "X-linked syndromic intellectual disability" MONDO:0020119 "ClinGen " 2745 DDX3X "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 2745 DDX3X "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 2745 DDX3X "Global developmental delay" "Disgenet " 2745 DDX3X Epilepsies MONDO_0005027 "Disgenet " 2745 DDX3X Medulloblastoma MONDO_0007959 "Disgenet " 2745 DDX3X "Cancer, Breast" MONDO_0007254 "Disgenet " 2745 DDX3X "Childhood autism" MONDO_0005260 "Disgenet " 2745 DDX3X "HIV infection" MONDO_0005109 "Disgenet " 2745 DDX3X "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 2753 DECR1 "progressive encephalopathy with leukodystrophy due to DECR deficiency" MONDO:0014464 "ClinGen " 27561 TSEN54 "Pontocerebellar hypoplasia" MONDO_0020135 "Disgenet " 27561 TSEN54 "Pontocerebellar Hypoplasia Type 2" MONDO_0016759 "Disgenet " 27561 TSEN54 PCH2A MONDO_0010190 "Disgenet " 27561 TSEN54 Microcephalies MONDO_0001149 "Disgenet " 27561 TSEN54 PCH5 MONDO_0012438 "Disgenet " 27561 TSEN54 PCH4 MONDO_0009166 "Disgenet " 27609 EMC10 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 2766 DEFB1 COPD MONDO_0005002 "Disgenet " 2766 DEFB1 Asthma MONDO_0004979 "Disgenet " 2766 DEFB1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2768 DEK "Breast Neoplasms" MONDO_0021100 "Disgenet " 277 ADRA1A "Alzheimer Disease" MONDO_0012630 "Disgenet " 277 ADRA1A "Bipolar Disorders" MONDO_0004985 "Disgenet " 277 ADRA1A "Liver cell carcinoma" MONDO_0007256 "Disgenet " 277 ADRA1A "High blood pressure" MONDO_0005044 "Disgenet " 277 ADRA1A Schizophrenias MONDO_0005090 "Disgenet " 2770 DES "Arrhythmogenic right ventricular dysplasia" MONDO_0016587 "Disgenet " 2770 DES DRM MONDO_0018943 "Disgenet " 2770 DES "Restrictive cardiomyopathy" MONDO_0005201 "Disgenet " 2770 DES "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 2770 DES "arrhythmogenic right ventricular cardiomyopathy" MONDO:0016587 "ClinGen " 2770 DES "Atrial Fibrillation" MONDO_0004981 "Disgenet " 2770 DES Epithelioma MONDO_0004993 "Disgenet " 2770 DES Carcinoma MONDO_0004993 "Disgenet " 2770 DES "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 2770 DES "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 2770 DES "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 2770 DES "Myofibrillar myopathy" MONDO_0018943 "Disgenet " 2770 DES "Breast Neoplasms" MONDO_0021100 "Disgenet " 2771 CFD "COMPLEMENT FACTOR D DEFICIENCY" MONDO_0013487 "Disgenet " 27729 RNF212 "Testicular azoospermia" "Disgenet " 27960 SLC6A19 "Hartnup disease" MONDO:0009324 "ClinGen " 27960 SLC6A19 IMINOGLYCINURIA MONDO_0009448 "Disgenet " 27960 SLC6A19 Hyperglycinuria MONDO_0007677 "Disgenet " 27960 SLC6A19 "Hartnup Disease" MONDO_0009324 "Disgenet " 27962 STING1 SAVI MONDO_0014405 "Disgenet " 27962 STING1 "Autoinflammatory disease" MONDO_0019751 "Disgenet " 28018 NIPAL4 ARCI6 MONDO_0012847 "Disgenet " 28018 NIPAL4 "Ichthyosis, Lamellar" MONDO_0011485 "Disgenet " 28018 NIPAL4 "Congenital Ichthyosiform Erythrodermas" "Disgenet " 28027 WDPCP ciliopathy MONDO:0005308 "ClinGen " 28027 WDPCP "BARDET-BIEDL SYNDROME 15" MONDO_0014443 "Disgenet " 28027 WDPCP "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 28072 LYRM7 "mitochondrial disease" MONDO:0044970 "ClinGen " 28072 LYRM7 "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8" MONDO_0014364 "Disgenet " 28086 NDUFAF2 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 28086 NDUFAF2 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 28086 NDUFAF2 "Leigh syndrome" MONDO:0009723 "ClinGen " 28086 NDUFAF2 "mitochondrial disease" MONDO:0044970 "ClinGen " 28086 NDUFAF2 "MITOCHONDRIAL COMPLEX I DEFICIENCY" MONDO_0100133 "Disgenet " 28093 BBIP1 "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 281 ADRA2A "Depressive neurosis" MONDO_0002050 "Disgenet " 281 ADRA2A "Attention-Deficit Disorder NOS" MONDO_0005302 "Disgenet " 281 ADRA2A Depression MONDO_0002050 "Disgenet " 281 ADRA2A Schizophrenias MONDO_0005090 "Disgenet " 281 ADRA2A "High blood pressure" MONDO_0005044 "Disgenet " 281 ADRA2A Alcoholism MONDO_0002046 "Disgenet " 281 ADRA2A "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 281 ADRA2A "Affective Disorders" MONDO_0005371 "Disgenet " 2810 GSDME Melanoma MONDO_0005105 "Disgenet " 2810 GSDME "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 2810 GSDME "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 2810 GSDME Hypoacusis MONDO_0005365 "Disgenet " 2810 GSDME DFNA5 MONDO_0010973 "Disgenet " 2810 GSDME "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 2810 GSDME "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 28114 ALDH16A1 Gout MONDO_0005393 "Disgenet " 28128 TMEM107 "ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVI" MONDO_0033045 "Disgenet " 28128 TMEM107 "MECKEL SYNDROME, TYPE 1" MONDO_0009571 "Disgenet " 28128 TMEM107 "Orofaciodigital Syndromes" MONDO_0013641 "Disgenet " 28128 TMEM107 "Meckel-Gruber syndrome" MONDO_0018921 "Disgenet " 28135 TCHP "Pancreatic carcinoma" MONDO_0005192 "Disgenet " 28163 CCDC28B "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 28178 CCDC115 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo" MONDO_0014789 "Disgenet " 28178 CCDC115 CCDC115-CDG MONDO:0014789 "ClinGen " 282 ADRA2B "Liver cell carcinoma" MONDO_0007256 "Disgenet " 282 ADRA2B "Benign adult familial myoclonic epilepsy (disorder)" MONDO_0019448 "Disgenet " 282 ADRA2B epilepsy MONDO:0005027 "ClinGen " 282 ADRA2B Obesity MONDO_0019182 "Disgenet " 282 ADRA2B "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 282 ADRA2B "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 282 ADRA2B "High blood pressure" MONDO_0005044 "Disgenet " 28214 FRMD5 "NEURODEVELOPMENTAL DISORDER WITH EYE MOVEMENT ABNORMALITIES AND ATAXIA" MONDO_0859305 "Disgenet " 28216 COX14 "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10" MONDO_0033639 "Disgenet " 28216 COX14 "mitochondrial disease" MONDO:0044970 "ClinGen " 28249 PHYKPL phosphohydroxylysinuria MONDO:0014008 "ClinGen " 28261 TBCK "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 28261 TBCK IHPRF3 MONDO_0014823 "Disgenet " 28261 TBCK "syndromic complex neurodevelopmental disorder" MONDO:0800439 "ClinGen " 28261 TBCK "Global developmental delay" "Disgenet " 28280 TLCD5 "Exfoliation Syndrome" MONDO_0100046 "Disgenet " 28287 ALG14 "congenital disorder of glycosylation" MONDO:0015286 "ClinGen " 28287 ALG14 CMSWTA MONDO_0014542 "Disgenet " 28287 ALG14 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 28287 ALG14 "CONGEN MYASTHENIA GRAVIS" MONDO_0018940 "Disgenet " 28295 CCDC32 "cardiofacioneurodevelopmental syndrome" MONDO:0030873 "ClinGen " 28296 DYNC2I2 "short-rib thoracic dysplasia 11 with or without polydactyly" MONDO:0014287 "ClinGen " 28296 DYNC2I2 "SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY" MONDO_0014287 "Disgenet " 28296 DYNC2I2 "Asphyxiating thoracic dystrophy" MONDO_0018770 "Disgenet " 283 ADRA2C "Congestive heart failure" MONDO_0005252 "Disgenet " 283 ADRA2C "Heart failure" MONDO_0005252 "Disgenet " 28313 TET3 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 28313 TET3 BEFAHRS MONDO_0032922 "Disgenet " 28313 TET3 "Global developmental delay" "Disgenet " 28313 TET3 "Beck-Fahrner syndrome" MONDO:0032922 "ClinGen " 28313 TET3 "Beck-Fahrner syndrome" MONDO:0032922 "ClinGen " 28337 C9orf72 "frontotemporal dementia and/or amyotrophic lateral sclerosis 1" MONDO:0007105 "ClinGen " 28337 C9orf72 "Frontotemporal Lobar Degeneration" "Disgenet " 28337 C9orf72 "FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1" MONDO_0007105 "Disgenet " 28337 C9orf72 "Frontotemporal dementia, behavioral variant" MONDO_0017160 "Disgenet " 28337 C9orf72 "Unspecified nonorganic psychosis" "Disgenet " 28337 C9orf72 Psychosis MONDO_0005485 "Disgenet " 28337 C9orf72 Schizophrenias MONDO_0005090 "Disgenet " 28337 C9orf72 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 28337 C9orf72 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 28337 C9orf72 "Disorder, Schizoaffective" MONDO_0005487 "Disgenet " 28337 C9orf72 FTDMND MONDO_0007105 "Disgenet " 28358 D2HGDH "D-2-HYDROXYGLUTARIC ACIDURIA 1" MONDO_0010924 "Disgenet " 28358 D2HGDH "D-2-hydroxyglutaric aciduria" MONDO_0016001 "Disgenet " 28369 THOC6 "THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome" MONDO:0013362 "ClinGen " 28369 THOC6 BBIS MONDO_0013362 "Disgenet " 28391 SUSD3 "Cancer, Breast" MONDO_0007254 "Disgenet " 28395 SGMS2 "Doughnut Lesions of Skull, Familial" MONDO_0007470 "Disgenet " 28396 TMEM67 "RHYNS SYNDROME" MONDO_0011202 "Disgenet " 28396 TMEM67 "Hypertension, Portal" MONDO_0005080 "Disgenet " 28396 TMEM67 MKS3 MONDO_0011821 "Disgenet " 28396 TMEM67 ciliopathy MONDO:0005308 "ClinGen " 28396 TMEM67 Ciliopathies MONDO_0005308 "Disgenet " 28396 TMEM67 CPD4 MONDO_0018772 "Disgenet " 28396 TMEM67 "Cystic kidney disease" MONDO_0009571 "Disgenet " 28396 TMEM67 NPHP11 MONDO_0013302 "Disgenet " 28396 TMEM67 Nephropathy MONDO_0005240 "Disgenet " 28396 TMEM67 Coloboma MONDO_0007350 "Disgenet " 28396 TMEM67 "Joubert syndrome and related disorders" MONDO_0015369 "Disgenet " 28396 TMEM67 "Meckel-Gruber syndrome" MONDO_0018921 "Disgenet " 28396 TMEM67 "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 28396 TMEM67 Nephronophthisis MONDO_0019005 "Disgenet " 28396 TMEM67 "COACH syndrome" MONDO_0100349 "Disgenet " 28396 TMEM67 "Kidney, Cystic" MONDO_0002473 "Disgenet " 28396 TMEM67 JBTS6 MONDO_0012539 "Disgenet " 28422 TSEN2 PCH2B MONDO_0012890 "Disgenet " 28422 TSEN2 "Pontocerebellar Hypoplasia Type 2" MONDO_0016759 "Disgenet " 28423 STAC3 "Bailey-Bloch congenital myopathy" MONDO:0009722 "ClinGen " 28423 STAC3 "Native American myopathy" MONDO_0009722 "Disgenet " 28423 STAC3 "Congenital myopathies" MONDO_0013177 "Disgenet " 2843 DGAT1 Cardiomyopathy MONDO_0004994 "Disgenet " 28434 CCNQ "TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS" MONDO_0010408 "Disgenet " 28434 CCNQ "syndactyly-telecanthus-anogenital and renal malformations syndrome" MONDO:0010408 "ClinGen " 28449 ZFTA Ependymoma MONDO_0016698 "Disgenet " 2845 DGCR2 "DiGeorge's syndrome" MONDO_0018923 "Disgenet " 2845 DGCR2 Schizophrenias MONDO_0005090 "Disgenet " 2846 DGCR6 "DiGeorge's syndrome" MONDO_0018923 "Disgenet " 2846 DGCR6 Schizophrenias MONDO_0005090 "Disgenet " 28460 HROB "Menopause, Premature" MONDO_0001119 "Disgenet " 28466 POLR3GL Oligodontia MONDO_0008797 "Disgenet " 28467 FAAP24 "lymphoproliferative syndrome" MONDO:0016537 "ClinGen " 2847 DGCR8 Schizophrenias MONDO_0005090 "Disgenet " 2847 DGCR8 "DiGeorge's syndrome" MONDO_0018923 "Disgenet " 2847 DGCR8 "Unspecified nonorganic psychosis" "Disgenet " 2847 DGCR8 Psychosis MONDO_0005485 "Disgenet " 2847 DGCR8 "Childhood Renal Wilms' Tumor" MONDO_0024676 "Disgenet " 2847 DGCR8 Nephroblastoma MONDO_0019004 "Disgenet " 28472 TMEM43 "arrhythmogenic right ventricular dysplasia 5" MONDO:0011459 "ClinGen " 28472 TMEM43 EDMD7 MONDO_0013677 "Disgenet " 28472 TMEM43 ARVC5 MONDO_0011459 "Disgenet " 28472 TMEM43 "Arrhythmogenic right ventricular dysplasia" MONDO_0016587 "Disgenet " 28472 TMEM43 Cardiomyopathy MONDO_0004994 "Disgenet " 28482 DYNLT2B "Asphyxiating thoracic dystrophy" MONDO_0018770 "Disgenet " 28486 MFSD8 "KUFS DIS" MONDO_0008768 "Disgenet " 28486 MFSD8 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 28486 MFSD8 "neuronal ceroid lipofuscinosis" MONDO:0016295 "ClinGen " 28486 MFSD8 "Jansky Bielschowsky Disease" MONDO_0008767 "Disgenet " 28486 MFSD8 "Batten Spielmeyer Vogt Disease" MONDO_0012588 "Disgenet " 28486 MFSD8 "Neuronal ceroid lipofuscinosis" MONDO_0008767 "Disgenet " 28486 MFSD8 "CEROID LIPOFUSCINOSIS, NEURONAL, 7" MONDO_0012588 "Disgenet " 28490 DIPK2A "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 28490 DIPK2A "Childhood autism" MONDO_0005260 "Disgenet " 28497 TMEM151A Dystonia MONDO_0003441 "Disgenet " 285 ADRB1 "Heart failure" MONDO_0005252 "Disgenet " 285 ADRB1 "High blood pressure" MONDO_0005044 "Disgenet " 285 ADRB1 "Congestive heart failure" MONDO_0005252 "Disgenet " 285 ADRB1 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 285 ADRB1 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 285 ADRB1 Depression MONDO_0002050 "Disgenet " 285 ADRB1 "Obstructive sleep apnea syndrome" MONDO_0007147 "Disgenet " 285 ADRB1 "Depressive neurosis" MONDO_0002050 "Disgenet " 285 ADRB1 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 285 ADRB1 "Cardiovascular Disease" MONDO_0004995 "Disgenet " 285 ADRB1 Obesity MONDO_0019182 "Disgenet " 2851 DGKD "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 28510 GLIS3 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 28510 GLIS3 "Angle Closure Glaucoma" MONDO_0001744 "Disgenet " 28510 GLIS3 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 28514 CEP112 SPGF44 MONDO_0033622 "Disgenet " 2852 DGKE NPHS7 MONDO_0018159 "Disgenet " 2852 DGKE "Gassers Syndrome" MONDO_0001549 "Disgenet " 2852 DGKE "membranoproliferative glomerulonephritis" MONDO:0002461 "ClinGen " 2852 DGKE "atypical hemolytic-uremic syndrome with DGKE deficiency" MONDO:0018159 "ClinGen " 2852 DGKE "Non-Shiga-Like Toxin-Associated HUSs" MONDO_0016244 "Disgenet " 2852 DGKE "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 2852 DGKE Nephropathy MONDO_0005240 "Disgenet " 28526 EOGT "adams oliver syndrome" MONDO_0007034 "Disgenet " 2854 DGKH "Bipolar Disorders" MONDO_0004985 "Disgenet " 28556 IQCK "Alzheimer Disease" MONDO_0012630 "Disgenet " 28557 KLHDC8B "Hodgkin's granuloma" MONDO_0004952 "Disgenet " 2858 DGUOK "mitochondrial disease" MONDO:0044970 "ClinGen " 2858 DGUOK "mitochondrial dna depletion" MONDO_0018158 "Disgenet " 2858 DGUOK "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4" MONDO_0014899 "Disgenet " 2858 DGUOK "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 2858 DGUOK "Dguok-Related Mitochondrial Dna Depletion Syndrome" MONDO_0009636 "Disgenet " 2859 DHCR24 "Alzheimer Disease" MONDO_0012630 "Disgenet " 2859 DHCR24 DESMOSTEROLOSIS MONDO_0011217 "Disgenet " 28596 B3GALNT2 alpha-Dystroglycanopathies MONDO_0000171 "Disgenet " 28596 B3GALNT2 "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11" MONDO_0014071 "Disgenet " 286 ADRB2 "Primary open-angle glaucoma" MONDO_0100553 "Disgenet " 286 ADRB2 Hyperlipemias MONDO_0021187 "Disgenet " 286 ADRB2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 286 ADRB2 "Pigmentary glaucoma" MONDO_0005338 "Disgenet " 286 ADRB2 "Diseases, Lung" MONDO_0005275 "Disgenet " 286 ADRB2 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 286 ADRB2 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 286 ADRB2 "Childhood autism" MONDO_0005260 "Disgenet " 286 ADRB2 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 286 ADRB2 "Cystic Fibrosis" MONDO_0009061 "Disgenet " 286 ADRB2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 286 ADRB2 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 286 ADRB2 "Disease, Metabolic" MONDO_0005066 "Disgenet " 286 ADRB2 "Fatty Liver" MONDO_0004790 "Disgenet " 286 ADRB2 Obesity MONDO_0019182 "Disgenet " 286 ADRB2 COPD MONDO_0005002 "Disgenet " 286 ADRB2 "High blood pressure" MONDO_0005044 "Disgenet " 286 ADRB2 Psoriases MONDO_0005083 "Disgenet " 286 ADRB2 Cardiomyopathy MONDO_0004994 "Disgenet " 286 ADRB2 "Myasthenia Gravis" MONDO_0009688 "Disgenet " 286 ADRB2 "GRAVES DISEASE" MONDO_0005364 "Disgenet " 286 ADRB2 "Acute kidney injury" MONDO_0002492 "Disgenet " 286 ADRB2 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 286 ADRB2 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 286 ADRB2 Asthma MONDO_0004979 "Disgenet " 2860 DHCR7 "RSH SLO Syndrome" MONDO_0010035 "Disgenet " 2860 DHCR7 "Smith-Lemli-Opitz syndrome" MONDO:0010035 "ClinGen " 2860 DHCR7 "Childhood autism" MONDO_0005260 "Disgenet " 2861 DHFR "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 2861 DHFR "Childhood autism" MONDO_0005260 "Disgenet " 2861 DHFR "MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY" MONDO_0013456 "Disgenet " 2861 DHFR "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 2861 DHFR "Breast Neoplasms" MONDO_0021100 "Disgenet " 2861 DHFR ALL MONDO_0004967 "Disgenet " 2861 DHFR "Anemia, Megaloblastic" MONDO_0001700 "Disgenet " 2861 DHFR "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 28611 RICTOR "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 28611 RICTOR "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 28611 RICTOR "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 28625 NDUFAF6 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 28625 NDUFAF6 "Leigh syndrome" MONDO:0009723 "ClinGen " 28625 NDUFAF6 MC1DN17 MONDO_0032622 "Disgenet " 28625 NDUFAF6 "mitochondrial disease" MONDO:0044970 "ClinGen " 28625 NDUFAF6 "deToni Fanconi syndrome" MONDO_0001083 "Disgenet " 28636 B9D2 ciliopathy MONDO:0005308 "ClinGen " 28636 B9D2 CPD4 MONDO_0018772 "Disgenet " 28636 B9D2 "Meckel-Gruber syndrome" MONDO_0018921 "Disgenet " 28648 DIS3L2 "Childhood Renal Wilms' Tumor" MONDO_0024676 "Disgenet " 28648 DIS3L2 "Perlman syndrome" MONDO:0009965 "ClinGen " 28648 DIS3L2 "Renal hamartomas, nephroblastomatosis, and fetal gigantism" MONDO_0009965 "Disgenet " 28648 DIS3L2 Nephroblastoma MONDO_0019004 "Disgenet " 28657 CRACR2A "combined immunodeficiency" MONDO:0015131 "ClinGen " 28660 ISCA1 "Multiple Mitochondrial Dysfunctions Syndrome" MONDO_0017338 "Disgenet " 28660 ISCA1 MMDS5 MONDO_0033282 "Disgenet " 2867 DHODH "POSTAXIAL ACROFACIAL DYSOSTOSIS" MONDO_0009903 "Disgenet " 28672 CYBC1 "Chronic Granulomatous Diseases" MONDO_0018305 "Disgenet " 28680 CHAC1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 28722 COQ5 "mitochondrial disease" MONDO:0044970 "ClinGen " 2873 CYB5R3 "methemoglobinemia due to deficiency of methemoglobin reductase" MONDO:0009606 "ClinGen " 2873 CYB5R3 "Congenital methaemoglobinaemia" MONDO_0018963 "Disgenet " 2873 CYB5R3 Methemoglobinemia MONDO_0001117 "Disgenet " 2873 CYB5R3 "Cytochrome b5 reductase deficiency" MONDO_0009606 "Disgenet " 2873 CYB5R3 "METHEMOGLOBINEMIA, TYPE I" "Disgenet " 2873 CYB5R3 "METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE" MONDO_0009529 "Disgenet " 2873 CYB5R3 "METHEMOGLOBINEMIA, TYPE II" "Disgenet " 2873 CYB5R3 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 2873 CYB5R3 "Cancer, Breast" MONDO_0007254 "Disgenet " 2874 NQO1 "Acute kidney injury" MONDO_0002492 "Disgenet " 2874 NQO1 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 2874 NQO1 COPD MONDO_0005002 "Disgenet " 2874 NQO1 neurotoxicity MONDO_0005527 "Disgenet " 2874 NQO1 Obesity MONDO_0019182 "Disgenet " 2874 NQO1 "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 2874 NQO1 Leukemias MONDO_0005059 "Disgenet " 2874 NQO1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 2874 NQO1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 2874 NQO1 "Multiple Myeloma" MONDO_0009693 "Disgenet " 2874 NQO1 ALL MONDO_0004967 "Disgenet " 2874 NQO1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2874 NQO1 Asthma MONDO_0004979 "Disgenet " 2874 NQO1 "Myeloid Leukemias" MONDO_0004643 "Disgenet " 2874 NQO1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 2874 NQO1 "Parkinson Disease" MONDO_0014796 "Disgenet " 2874 NQO1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 2874 NQO1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 2874 NQO1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 28741 ILDR1 DFNB42 MONDO_0012326 "Disgenet " 28741 ILDR1 Hypoacusis MONDO_0005365 "Disgenet " 28741 ILDR1 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 2876 DIAPH1 "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 2876 DIAPH1 "DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome" MONDO:0044635 "ClinGen " 2876 DIAPH1 "progressive microcephaly-seizures-cortical blindness-developmental delay syndrome" MONDO:0014714 "ClinGen " 2876 DIAPH1 "Moyamoya Disease" MONDO_0016820 "Disgenet " 2876 DIAPH1 "Auditory neuropathy spectrum disorder (disorder)" MONDO_0021944 "Disgenet " 2876 DIAPH1 Macrothrombocytopenia "Disgenet " 2876 DIAPH1 DFNA1 MONDO_0019587 "Disgenet " 28762 AFG2B "NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY" MONDO_0859206 "Disgenet " 28762 AFG2B "hearing loss, autosomal recessive 119" MONDO:0030480 "ClinGen " 28769 DRAM2 "RETINAL DYSTROPHY WITH EARLY MACULAR INVOLVEMENT" MONDO_0014669 "Disgenet " 28769 DRAM2 "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 28769 DRAM2 "Retinal dystrophy" MONDO_0019118 "Disgenet " 2877 DIAPH2 "Primary ovarian failure" MONDO_0005387 "Disgenet " 28833 OLA1 "Cancer, Breast" MONDO_0007254 "Disgenet " 2884 DIO2 "High blood pressure" MONDO_0005044 "Disgenet " 28844 FBXO38 "distal hereditary motor neuropathy" MONDO:0018894 "ClinGen " 28844 FBXO38 "NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID" MONDO_0014259 "Disgenet " 28845 MED25 "Charcot-Marie-Tooth disease type 2B2" MONDO:0011570 "ClinGen " 28845 MED25 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 28845 MED25 "BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME" MONDO_0014643 "Disgenet " 28845 MED25 CMT2B2 MONDO_0011570 "Disgenet " 2885 DIO3 Schizophrenias MONDO_0005090 "Disgenet " 2885 DIO3 "Papillary Thyroid Carcinoma" MONDO_0005075 "Disgenet " 28858 P4HTM "HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES" MONDO_0032780 "Disgenet " 28858 P4HTM "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 28859 HILPDA "Liver cell carcinoma" MONDO_0007256 "Disgenet " 28862 NIPBL "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 28862 NIPBL "Global developmental delay" "Disgenet " 28862 NIPBL "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 28862 NIPBL "CORNELIA DE LANGE SYNDROME 1" MONDO_0007387 "Disgenet " 28862 NIPBL "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 28862 NIPBL "Cornelia de Lange syndrome" MONDO:0016033 "ClinGen " 28862 NIPBL "De Lange Syndrome" MONDO_0016033 "Disgenet " 28867 IGF2BP2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 28871 IER2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 28871 IER2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 2888 DISC1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 2888 DISC1 "Childhood autism" MONDO_0005260 "Disgenet " 2888 DISC1 "Bipolar Depression" MONDO_0004985 "Disgenet " 2888 DISC1 "Anxiety Disorder" MONDO_0005618 "Disgenet " 2888 DISC1 Schizophrenias MONDO_0005090 "Disgenet " 2888 DISC1 "Major depressive disorder, recurrent episode, unspecified degree" MONDO_0002009 "Disgenet " 2888 DISC1 "Asperger syndrome" MONDO_0005259 "Disgenet " 2888 DISC1 "Affective Disorders" MONDO_0005371 "Disgenet " 2888 DISC1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 2888 DISC1 "Depressive neurosis" MONDO_0002050 "Disgenet " 2888 DISC1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 2888 DISC1 Depression MONDO_0002050 "Disgenet " 28880 MAGT1 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc" MONDO_0026729 "Disgenet " 28880 MAGT1 XMEN MONDO_0010455 "Disgenet " 28880 MAGT1 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 28880 MAGT1 "X-linked intellectual disability" MONDO:0100284 "ClinGen " 28887 LEMD3 "Dermatofibrosis lenticularis disseminata" MONDO_0008157 "Disgenet " 28887 LEMD3 Osteopoikiloses MONDO_0001414 "Disgenet " 289 GRK2 "High blood pressure" MONDO_0005044 "Disgenet " 289 GRK2 "Congestive heart failure" MONDO_0005252 "Disgenet " 289 GRK2 "Heart failure" MONDO_0005252 "Disgenet " 289 GRK2 "Asphyxiating thoracic dystrophy" MONDO_0018770 "Disgenet " 289 GRK2 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 289 GRK2 "Cardiovascular Disease" MONDO_0004995 "Disgenet " 2890 DKC1 "HOYERAAL-HREIDARSSON SYNDROME" MONDO_0018045 "Disgenet " 2890 DKC1 "DKC1-related disorder" MONDO:0100152 "ClinGen " 2890 DKC1 "dyskeratosis congenita, X-linked" MONDO:0010584 "ClinGen " 2890 DKC1 "Aplastic anemia" MONDO_0015909 "Disgenet " 2890 DKC1 "Dyskeratosis Congenita" MONDO_0015780 "Disgenet " 2890 DKC1 "Syndrome, Zinsser-Cole-Engman" MONDO_0010584 "Disgenet " 28905 YRDC "Microcephaly nephrosis syndrome" MONDO_0009627 "Disgenet " 28908 DNAJC12 "hyperphenylalaninemia due to DNAJC12 deficiency" MONDO:0044304 "ClinGen " 28908 DNAJC12 HPANBH4 MONDO_0044304 "Disgenet " 28909 CCDC22 RTSC2 MONDO_0010499 "Disgenet " 28909 CCDC22 "3C syndrome" MONDO_0019078 "Disgenet " 28909 CCDC22 "Ritscher-Schinzel syndrome 2" MONDO:0010499 "ClinGen " 2891 DKK1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 2891 DKK1 Endometrioses MONDO_0005133 "Disgenet " 28912 WDR45 "Infantile spasms" MONDO_0018097 "Disgenet " 28912 WDR45 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 28912 WDR45 "X-linked complex neurodevelopmental disorder" MONDO:0100148 "ClinGen " 28912 WDR45 "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5" MONDO_0010476 "Disgenet " 28912 WDR45 "Global developmental delay" "Disgenet " 28912 WDR45 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 28912 WDR45 Epilepsies MONDO_0005027 "Disgenet " 28912 WDR45 "Neurodegeneration with brain iron accumulation (NBIA)" MONDO_0018307 "Disgenet " 28917 JAZF1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 28917 JAZF1 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 28917 JAZF1 "Sarcoma, Endometrial Stromal" MONDO_0006745 "Disgenet " 28917 JAZF1 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 28917 JAZF1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 2892 DKK2 Alcoholism MONDO_0002046 "Disgenet " 28929 KRT74 "Ectodermal Dysplasia, Pure Hair-Nail Type" MONDO_0011177 "Disgenet " 28949 IQCB1 ciliopathy MONDO:0005308 "ClinGen " 28949 IQCB1 Ciliopathies MONDO_0005308 "Disgenet " 28949 IQCB1 "Leber congenital amaurosis" MONDO_0018998 "Disgenet " 28949 IQCB1 Nephronophthisis MONDO_0019005 "Disgenet " 28949 IQCB1 "Renal dysplasia and retinal aplasia (disorder)" MONDO_0017842 "Disgenet " 2895 EDAR "Ectodermal Dysplasias" MONDO_0019287 "Disgenet " 2895 EDAR "Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive" MONDO_0016619 "Disgenet " 2895 EDAR HED MONDO_0007509 "Disgenet " 2895 EDAR Oligodontia MONDO_0008797 "Disgenet " 2895 EDAR "ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE" MONDO_0009147 "Disgenet " 2895 EDAR "Christ Siemens Touraine Syndrome" MONDO_0010585 "Disgenet " 2895 EDAR "Ectodermal dysplasia (anhidrotic)" MONDO_0016535 "Disgenet " 2895 EDAR HED MONDO_0013983 "Disgenet " 28950 KIAA0040 Alcoholism MONDO_0002046 "Disgenet " 28956 GPD1L "BRUGADA SYNDROME 2" MONDO_0012728 "Disgenet " 28956 GPD1L "Brugada syndrome 1" MONDO:0011001 "ClinGen " 28956 GPD1L "Brugada Syndrome" MONDO_0015263 "Disgenet " 28958 NUP93 NPHS12 MONDO_0014817 "Disgenet " 28958 NUP93 "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 2896 DLAT "Leigh syndrome" MONDO:0009723 "ClinGen " 2896 DLAT "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 28968 FAM53B "Cocaine dependence" MONDO_0005186 "Disgenet " 2897 DLC1 "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 2897 DLC1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 2897 DLC1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 2897 DLC1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 28979 GSE1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 28979 GSE1 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 2898 DLD "Cytochrome b5 reductase deficiency" MONDO_0009606 "Disgenet " 2898 DLD "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 2898 DLD "Branched Chain Ketoaciduria" MONDO_0023691 "Disgenet " 2898 DLD "pyruvate dehydrogenase E3 deficiency" MONDO:0009529 "ClinGen " 2898 DLD "Leigh syndrome" MONDO:0009723 "ClinGen " 2898 DLD "METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE" MONDO_0009529 "Disgenet " 28983 TMEM94 "intellectual developmental disorder with cardiac defects and dysmorphic facies" MONDO:0032672 "ClinGen " 28983 TMEM94 "INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES" MONDO_0032672 "Disgenet " 28984 WASHC5 "hereditary spastic paraplegia 8" MONDO:0011339 "ClinGen " 28984 WASHC5 "Ritscher-Schinzel syndrome 1" MONDO:0009073 "ClinGen " 28984 WASHC5 "Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant" MONDO_0019064 "Disgenet " 28984 WASHC5 "Paraplegias, Spastic" MONDO_0003757 "Disgenet " 28984 WASHC5 RTSC1 MONDO_0009073 "Disgenet " 28984 WASHC5 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 28984 WASHC5 "3C syndrome" MONDO_0019078 "Disgenet " 28984 WASHC5 "SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT" MONDO_0011339 "Disgenet " 2899 DLEC1 "Cancer, Breast" MONDO_0007254 "Disgenet " 28993 PIEZO1 "Anemia, Congenital Hemolytic" MONDO_0003689 "Disgenet " 28993 PIEZO1 "Nonimmune hydrops" MONDO_0009369 "Disgenet " 28993 PIEZO1 "Milroys Disease" MONDO_0019313 "Disgenet " 28993 PIEZO1 DHS MONDO_0017910 "Disgenet " 28993 PIEZO1 PSHK1 MONDO_0008689 "Disgenet " 28993 PIEZO1 "GENERALIZED LYMPHATIC DYSPLASIA OF FOTIOU" MONDO_0035474 "Disgenet " 28993 PIEZO1 "Anemia, Hemolytic" MONDO_0003664 "Disgenet " 28993 PIEZO1 "PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis" MONDO:0035474 "ClinGen " 28993 PIEZO1 "dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema" MONDO:0008689 "ClinGen " 29 ABCA1 "Coronary Disease" MONDO_0005010 "Disgenet " 29 ABCA1 "Familial Hypoalphalipoproteinemia" MONDO_0017773 "Disgenet " 29 ABCA1 CRC MONDO_0005335 "Disgenet " 29 ABCA1 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 29 ABCA1 Schizophrenias MONDO_0005090 "Disgenet " 29 ABCA1 "Autosomal Dominant Hypercholesterolemia" MONDO_0007750 "Disgenet " 29 ABCA1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 29 ABCA1 "Essential Hypercholesterolemia" MONDO_0005439 "Disgenet " 29 ABCA1 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 29 ABCA1 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 29 ABCA1 "HYPOALPHALIPOPROTEINEMIA, PRIMARY, 1" MONDO_0011393 "Disgenet " 29 ABCA1 FHD "Disgenet " 29 ABCA1 Hypercholesteremias "Disgenet " 29 ABCA1 "Hypo alpha Lipoproteinemias" MONDO_0017773 "Disgenet " 29 ABCA1 Obesity MONDO_0019182 "Disgenet " 29 ABCA1 "Tangier Disease" MONDO_0008783 "Disgenet " 29 ABCA1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 29 ABCA1 "apolipoprotein A-I deficiency (diagnosis)" "Disgenet " 29 ABCA1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 29 ABCA1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 29 ABCA1 Atherosclerosis MONDO_0005311 "Disgenet " 290 GRK3 "Bipolar Disorders" MONDO_0004985 "Disgenet " 2900 DLG1 Schizophrenias MONDO_0005090 "Disgenet " 29002 FCHO1 "immunodeficiency 76" MONDO:0030898 "ClinGen " 29002 FCHO1 "IMMUNODEFICIENCY 76" MONDO_0030898 "Disgenet " 2901 DLG2 Schizophrenias MONDO_0005090 "Disgenet " 2901 DLG2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 29010 SETD1A "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 29010 SETD1A "Child Development Disorder" MONDO_0005287 "Disgenet " 29010 SETD1A Schizophrenias MONDO_0005090 "Disgenet " 29010 SETD1A "EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY" MONDO_0030005 "Disgenet " 29010 SETD1A NEDSID MONDO_0033630 "Disgenet " 29011 TRANK1 "Syndrome, Kleine-Levin" MONDO_0004617 "Disgenet " 29011 TRANK1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 29012 KDM6B "syndromic intellectual disability" MONDO:0000508 "ClinGen " 29012 KDM6B "syndromic intellectual disability" MONDO:0000508 "ClinGen " 29013 CLEC16A "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 29013 CLEC16A "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 29013 CLEC16A "Addisons Disease" MONDO_0100480 "Disgenet " 29013 CLEC16A "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 29013 CLEC16A "Multiple Sclerosis" MONDO_0005301 "Disgenet " 29017 PLEKHM1 "autosomal recessive osteopetrosis 6" MONDO:0012679 "ClinGen " 29017 PLEKHM1 "osteopetrosis, autosomal dominant 3" MONDO:0020848 "ClinGen " 29017 PLEKHM1 OPTB6 MONDO_0012679 "Disgenet " 29017 PLEKHM1 "Albers Schoenberg Disease" MONDO_0012859 "Disgenet " 2902 DLG3 Epilepsies MONDO_0005027 "Disgenet " 2902 DLG3 "non-syndromic X-linked intellectual disability" MONDO:0019181 "ClinGen " 2902 DLG3 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 2902 DLG3 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 2902 DLG3 "Bipolar Disorders" MONDO_0004985 "Disgenet " 2902 DLG3 Schizophrenias MONDO_0005090 "Disgenet " 2902 DLG3 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 2902 DLG3 "Affective Disorders" MONDO_0005371 "Disgenet " 2902 DLG3 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 29021 CEP290 Blindness MONDO_0001941 "Disgenet " 29021 CEP290 Nephropathy MONDO_0005240 "Disgenet " 29021 CEP290 "CEP290-related ciliopathy" MONDO:0100451 "ClinGen " 29021 CEP290 "Polycystic kidney" MONDO_0020642 "Disgenet " 29021 CEP290 "Retinal dystrophy" MONDO_0019118 "Disgenet " 29021 CEP290 "Joubert syndrome and related disorders" MONDO_0015369 "Disgenet " 29021 CEP290 "rod cone dystrophy" MONDO_0015993 "Disgenet " 29021 CEP290 "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 29021 CEP290 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 29021 CEP290 Retinopathy MONDO_0005283 "Disgenet " 29021 CEP290 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 29021 CEP290 "MECKEL SYNDROME, TYPE 4" MONDO_0012626 "Disgenet " 29021 CEP290 "Renal dysplasia and retinal aplasia (disorder)" MONDO_0017842 "Disgenet " 29021 CEP290 "Leber congenital amaurosis" MONDO_0018998 "Disgenet " 29021 CEP290 LCA10 MONDO_0012723 "Disgenet " 29021 CEP290 Nephronophthisis MONDO_0019005 "Disgenet " 29021 CEP290 "JOUBERT SYNDROME 5" MONDO_0012432 "Disgenet " 29021 CEP290 "Cystic kidney disease" MONDO_0009571 "Disgenet " 29021 CEP290 "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 29021 CEP290 CPD4 MONDO_0018772 "Disgenet " 29021 CEP290 "Meckel-Gruber syndrome" MONDO_0018921 "Disgenet " 29022 SPECC1L "Opitz-Frias syndrome" MONDO_0017138 "Disgenet " 29022 SPECC1L "Oculomaxillofacial dysostosis" MONDO_0015824 "Disgenet " 29022 SPECC1L OSX MONDO_0010222 "Disgenet " 2903 DLG4 "Affective Disorders" MONDO_0005371 "Disgenet " 2903 DLG4 "Bipolar Disorders" MONDO_0004985 "Disgenet " 2903 DLG4 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 2903 DLG4 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 2903 DLG4 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 2903 DLG4 "Depressive neurosis" MONDO_0002050 "Disgenet " 2903 DLG4 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 2903 DLG4 Depression MONDO_0002050 "Disgenet " 2903 DLG4 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 2903 DLG4 Schizophrenias MONDO_0005090 "Disgenet " 2903 DLG4 "Syndrome, Williams" MONDO_0008678 "Disgenet " 2903 DLG4 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 29035 PPIP5K2 "DEAFNESS, AUTOSOMAL RECESSIVE 100" MONDO_0032740 "Disgenet " 29043 DSTYK SPG23 MONDO_0010046 "Disgenet " 29043 DSTYK "Renal Hypodysplasia, Nonsyndromic, 1" MONDO_0012561 "Disgenet " 29043 DSTYK "complex hereditary spastic paraplegia" MONDO:0015150 "ClinGen " 29046 FBXO28 "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100" MONDO_0030695 "Disgenet " 2905 DLGAP1 Schizophrenias MONDO_0005090 "Disgenet " 29059 IQSEC2 MRX1 MONDO_0010656 "Disgenet " 29059 IQSEC2 Epilepsies MONDO_0005027 "Disgenet " 29059 IQSEC2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 29059 IQSEC2 "Childhood autism" MONDO_0005260 "Disgenet " 29059 IQSEC2 "X-linked complex neurodevelopmental disorder" MONDO:0100148 "ClinGen " 29059 IQSEC2 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 29059 IQSEC2 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 29068 KATNIP CPD4 MONDO_0018772 "Disgenet " 29068 KATNIP ciliopathy MONDO:0005308 "ClinGen " 2907 DLK1 "Central precocious puberty" MONDO_0000088 "Disgenet " 29077 IFT140 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 29077 IFT140 "Mainzer-Saldino Disease" MONDO_0009964 "Disgenet " 29077 IFT140 "Cranioectodermal dysplasia" MONDO_0009032 "Disgenet " 29077 IFT140 "autosomal dominant polycystic kidney disease" MONDO:0004691 "ClinGen " 29077 IFT140 "IFT140-related recessive ciliopathy" MONDO:0100509 "ClinGen " 29077 IFT140 "Retinal dystrophy" MONDO_0019118 "Disgenet " 29077 IFT140 "Polycystic Kidney, Autosomal Dominant" MONDO_0004691 "Disgenet " 29077 IFT140 "Asphyxiating thoracic dystrophy" MONDO_0018770 "Disgenet " 2908 DLL1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 2908 DLL1 Holoprosencephalies MONDO_0016296 "Disgenet " 2908 DLL1 NEDBAS MONDO_0032877 "Disgenet " 2908 DLL1 "neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures" MONDO:0032877 "ClinGen " 2909 DLL3 SCDO2 MONDO_0012097 "Disgenet " 2909 DLL3 SCDO1 MONDO_0010180 "Disgenet " 2909 DLL3 Deformity "Disgenet " 29090 SMCHD1 "arhinia, choanal atresia, and microphthalmia" MONDO:0011323 "ClinGen " 29090 SMCHD1 "Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome" MONDO_0016393 "Disgenet " 29090 SMCHD1 FSHD MONDO_0001347 "Disgenet " 29090 SMCHD1 FSHD1B MONDO_0008031 "Disgenet " 29090 SMCHD1 "Bosma arhinia microphthalmia syndrome" MONDO_0011323 "Disgenet " 29090 SMCHD1 "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 29092 OBSL1 "Miller-McKusick-Malvaux-Syndrome (3M Syndrome)" MONDO_0007477 "Disgenet " 29093 ZC3H11A "Breast Neoplasms" MONDO_0021100 "Disgenet " 29099 TELO2 "TELO2-related intellectual disability-neurodevelopmental disorder" MONDO:0014848 "ClinGen " 29099 TELO2 "YOU-HOOVER-FONG SYNDROME" MONDO_0014848 "Disgenet " 291 ADSL "ADENYLOSUCCINASE DEFICIENCY" MONDO_0007068 "Disgenet " 291 ADSL "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 291 ADSL "Childhood autism" MONDO_0005260 "Disgenet " 291 ADSL "adenylosuccinate lyase deficiency" MONDO:0007068 "ClinGen " 2910 DLL4 "Breast Neoplasms" MONDO_0021100 "Disgenet " 2910 DLL4 "adams oliver syndrome" MONDO_0007034 "Disgenet " 29101 ANKLE2 MCPH16 MONDO_0014730 "Disgenet " 29105 PLEKHG5 "neuromuscular disease" MONDO:0019056 "ClinGen " 29105 PLEKHG5 CMTRIC MONDO_0014154 "Disgenet " 29105 PLEKHG5 "Distal spinal muscular atrophy" MONDO_0001516 "Disgenet " 29105 PLEKHG5 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 29105 PLEKHG5 "SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4" MONDO_0012608 "Disgenet " 29106 DDHD2 "SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE" MONDO_0014018 "Disgenet " 29106 DDHD2 Schizophrenias MONDO_0005090 "Disgenet " 29106 DDHD2 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 2911 DLST "Alzheimer Disease" MONDO_0012630 "Disgenet " 29110 KIAA0753 "Asphyxiating thoracic dystrophy" MONDO_0018770 "Disgenet " 29110 KIAA0753 "Orofaciodigital Syndromes" MONDO_0013641 "Disgenet " 29110 KIAA0753 CPD4 MONDO_0018772 "Disgenet " 29112 IQSEC1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 29112 IQSEC1 IDDSSBA MONDO_0032870 "Disgenet " 29118 TMEM63A "LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE" MONDO_0032871 "Disgenet " 29122 VPS8 "arthrogryposis multiplex congenita" MONDO:0015168 "ClinGen " 29144 EHBP1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 29150 DIP2C "Global developmental delay" "Disgenet " 29150 DIP2C "Cancer, Breast" MONDO_0007254 "Disgenet " 2916 DLX3 AIHHT MONDO_0007093 "Disgenet " 2916 DLX3 "TRICHODENTOOSSEOUS SYNDROME" MONDO_0008592 "Disgenet " 2916 DLX3 "Amelogenesis Imperfecta" MONDO_0007092 "Disgenet " 29160 FASTKD2 "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44" MONDO_0030020 "Disgenet " 29160 FASTKD2 "mitochondrial disease" MONDO:0044970 "ClinGen " 29160 FASTKD2 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 29162 FAM149B1 CPD4 MONDO_0018772 "Disgenet " 29165 SIK3 "Cancer, Breast" MONDO_0007254 "Disgenet " 29168 RPGRIP1L "MECKEL SYNDROME, TYPE 5" MONDO_0012695 "Disgenet " 29168 RPGRIP1L "Joubert syndrome and related disorders" MONDO_0015369 "Disgenet " 29168 RPGRIP1L "Leber congenital amaurosis" MONDO_0018998 "Disgenet " 29168 RPGRIP1L CPD4 MONDO_0018772 "Disgenet " 29168 RPGRIP1L Ciliopathies MONDO_0005308 "Disgenet " 29168 RPGRIP1L Nephropathy MONDO_0005240 "Disgenet " 29168 RPGRIP1L ciliopathy MONDO:0005308 "ClinGen " 29168 RPGRIP1L "JOUBERT SYNDROME 7" MONDO_0012694 "Disgenet " 29168 RPGRIP1L "Meckel-Gruber syndrome" MONDO_0018921 "Disgenet " 29168 RPGRIP1L Nephronophthisis MONDO_0019005 "Disgenet " 29169 TRAPPC8 "Cancer, Breast" MONDO_0007254 "Disgenet " 29170 FAN1 "hereditary nonpolyposis colon cancer" MONDO:0018630 "ClinGen " 29170 FAN1 KMIN MONDO_0013898 "Disgenet " 29174 WASHC4 MRT43 MONDO_0014354 "Disgenet " 29182 CEP164 Ciliopathies MONDO_0005308 "Disgenet " 29182 CEP164 Nephronophthisis MONDO_0019005 "Disgenet " 29182 CEP164 NPHP15 MONDO_0013917 "Disgenet " 29182 CEP164 ciliopathy MONDO:0005308 "ClinGen " 29185 PLCH1 Holoprosencephalies MONDO_0016296 "Disgenet " 29185 PLCH1 "Alobar Holoprosencephalies" MONDO_0019757 "Disgenet " 29186 ANKRD26 "Blood Platelet Disorder" MONDO_0002245 "Disgenet " 29186 ANKRD26 "thrombocytopenia 2" MONDO:0008555 "ClinGen " 29186 ANKRD26 Thrombocytopenia MONDO_0002049 "Disgenet " 29186 ANKRD26 THC2 MONDO_0008555 "Disgenet " 29187 SETD1B "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 29187 SETD1B "Global developmental delay" "Disgenet " 29187 SETD1B Epilepsies MONDO_0005027 "Disgenet " 29187 SETD1B "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 2919 DLX6 Ectrodactyly MONDO_0016576 "Disgenet " 29190 TNRC6B "Global developmental delay" "Disgenet " 29190 TNRC6B "UTERUS FIBROMA" MONDO_0007886 "Disgenet " 29190 TNRC6B "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 292 ADSS2 Schizophrenias MONDO_0005090 "Disgenet " 29203 TBC1D24 "Movement Disorders" MONDO_0005395 "Disgenet " 29203 TBC1D24 "Migrating Partial Seizures in Infancy" MONDO_0017385 "Disgenet " 29203 TBC1D24 EIEE16 MONDO_0014133 "Disgenet " 29203 TBC1D24 "Global developmental delay" "Disgenet " 29203 TBC1D24 "Isolated Deafness" MONDO_0019497 "Disgenet " 29203 TBC1D24 "EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP" MONDO_0011970 "Disgenet " 29203 TBC1D24 DFNB86 MONDO_0013826 "Disgenet " 29203 TBC1D24 "Epilepsy, Myoclonic, Infantile" MONDO_0011506 "Disgenet " 29203 TBC1D24 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 29203 TBC1D24 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 29203 TBC1D24 "DOORS syndrome" MONDO:0009079 "ClinGen " 29203 TBC1D24 "Brachydactyly due to Absence of Distal Phalanges" MONDO_0009079 "Disgenet " 29203 TBC1D24 "DEAFNESS, AUTOSOMAL DOMINANT 65" MONDO_0014470 "Disgenet " 29204 SVBP "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 29205 ERGIC1 Arthrogryposes MONDO_0015168 "Disgenet " 29213 CEMIP "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 29214 GRAMD1B "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 29215 SHROOM4 "X-linked complex neurodevelopmental disorder" MONDO:0100148 "ClinGen " 29215 SHROOM4 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 29215 SHROOM4 "Stocco dos Santos syndrome" MONDO_0010325 "Disgenet " 29216 ARHGAP31 "Scalp defects with ectrodactyly" MONDO_0024506 "Disgenet " 29216 ARHGAP31 "adams oliver syndrome" MONDO_0007034 "Disgenet " 29217 PRR12 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 29217 PRR12 "NEUROOCULAR SYNDROME" MONDO_0971007 "Disgenet " 29217 PRR12 "neuroocular syndrome" MONDO:0859193 "ClinGen " 29239 INTU "OROFACIODIGITAL SYNDROME XVII" MONDO_0033375 "Disgenet " 29242 SH3PXD2B "Frank-Ter Haar syndrome" MONDO:0009579 "ClinGen " 29242 SH3PXD2B "FRANK-TER HAAR SYNDROME" MONDO_0009579 "Disgenet " 29250 WDR35 SRPS5 MONDO_0013569 "Disgenet " 29250 WDR35 "Cranioectodermal dysplasia" MONDO_0009032 "Disgenet " 29250 WDR35 "CRANIOECTODERMAL DYSPLASIA 2" MONDO_0013323 "Disgenet " 29250 WDR35 CED1 MONDO_0009032 "Disgenet " 29250 WDR35 "Chondroectodermal Dysplasias" MONDO_0009162 "Disgenet " 29250 WDR35 "Short Rib Polydactyly Syndrome" MONDO_0015461 "Disgenet " 29250 WDR35 "cranioectodermal dysplasia 2" MONDO:0013323 "ClinGen " 29250 WDR35 "short-rib thoracic dysplasia 7 with or without polydactyly" MONDO:0013569 "ClinGen " 29250 WDR35 "Short rib-polydactyly syndrome type 5" MONDO_0013569 "Disgenet " 29253 CC2D2A "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 29253 CC2D2A "MECKEL SYNDROME, TYPE 6" MONDO_0012848 "Disgenet " 29253 CC2D2A CPD4 MONDO_0018772 "Disgenet " 29253 CC2D2A "JOUBERT SYNDROME 9" MONDO_0012849 "Disgenet " 29253 CC2D2A Nephronophthisis MONDO_0019005 "Disgenet " 29253 CC2D2A "Meckel-Gruber syndrome" MONDO_0018921 "Disgenet " 29253 CC2D2A ciliopathy MONDO:0005308 "ClinGen " 29253 CC2D2A "Unspecified mental retardation" MONDO_0001071 "Disgenet " 29253 CC2D2A "Cystic kidney disease" MONDO_0009571 "Disgenet " 29253 CC2D2A Ciliopathies MONDO_0005308 "Disgenet " 29253 CC2D2A "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 29255 USP53 "Byler's syndrome" MONDO_0015762 "Disgenet " 29255 USP53 "Bile Duct Obstructions" MONDO_0001751 "Disgenet " 29256 SOBP "syndromic intellectual disability" MONDO:0000508 "ClinGen " 29259 TAOK1 "syndromic intellectual disability" MONDO:0000508 "ClinGen " 29259 TAOK1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 29262 IFT80 "asphyxiating thoracic dystrophy 2" MONDO:0012644 "ClinGen " 29262 IFT80 ATD2 MONDO_0012644 "Disgenet " 29262 IFT80 "Asphyxiating thoracic dystrophy" MONDO_0018770 "Disgenet " 29263 ARRDC3 "Breast Neoplasms" MONDO_0021100 "Disgenet " 29277 ZNF687 "PAGET DISEASE OF BONE 6" MONDO_0014792 "Disgenet " 29277 ZNF687 "PAGET'S BONE DISEASE" MONDO_0005382 "Disgenet " 2928 DMD "Familial dilated cardiomyopathy" MONDO_0016333 "Disgenet " 2928 DMD "Childhood autism" MONDO_0005260 "Disgenet " 2928 DMD Leiomyosarcoma MONDO_0005058 "Disgenet " 2928 DMD GIST MONDO_0011719 "Disgenet " 2928 DMD "Cancer, Breast" MONDO_0007254 "Disgenet " 2928 DMD Schizophrenias MONDO_0005090 "Disgenet " 2928 DMD "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 2928 DMD CMD1A MONDO_0005021 "Disgenet " 2928 DMD "Hereditary progressive muscular dystrophy" MONDO_0016106 "Disgenet " 2928 DMD "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 2928 DMD "Status Epilepticus" MONDO_0002125 "Disgenet " 2928 DMD "Duchenne Becker Muscular Dystrophy" MONDO_0010679 "Disgenet " 2928 DMD Myopathy MONDO_0003939 "Disgenet " 2928 DMD Dystrophinopathy MONDO_0016147 "Disgenet " 2928 DMD "CARDIOMYOPATHY, DILATED, 3B" MONDO_0010542 "Disgenet " 2928 DMD Cardiomyopathy MONDO_0004994 "Disgenet " 2928 DMD "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 2928 DMD "Muscular Dystrophy, Duchenne" MONDO_0010679 "Disgenet " 2928 DMD "MUSCULAR DYSTROPHY, BECKER TYPE" MONDO_0010679 "Disgenet " 2928 DMD "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 2928 DMD "Unspecified mental retardation" MONDO_0001071 "Disgenet " 2928 DMD "progressive muscular dystrophy" MONDO:0016106 "ClinGen " 29283 JCAD "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 29298 CEP152 "True Microcephaly" MONDO_0016660 "Disgenet " 29298 CEP152 "Seckel syndrome" MONDO_0019342 "Disgenet " 29298 CEP152 "microcephaly with or without short stature" MONDO:0100346 "ClinGen " 29298 CEP152 "SECKEL SYNDROME 5" MONDO_0013443 "Disgenet " 29298 CEP152 MCPH9 MONDO_0013923 "Disgenet " 29298 CEP152 "Microcephaly, congenital" "Disgenet " 29300 KANK2 NPHS16 MONDO_0033280 "Disgenet " 29304 UVSSA UVSS3 MONDO_0013834 "Disgenet " 29304 UVSSA "UV-Sensitive Syndrome" MONDO_0015797 "Disgenet " 29316 ZSWIM6 "acromelic frontonasal dysostosis" MONDO:0011359 "ClinGen " 29316 ZSWIM6 "Acromelic frontonasal dysplasia" MONDO_0011359 "Disgenet " 29316 ZSWIM6 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 29316 ZSWIM6 "ACROMELIC FRONTONASAL DYSOSTOSIS" MONDO_0011359 "Disgenet " 2933 DMPK DM MONDO_0016107 "Disgenet " 2933 DMPK "Myotonic disorders" MONDO_0016120 "Disgenet " 2933 DMPK "Myotonic Dystrophy" MONDO_0016107 "Disgenet " 29331 EPG5 "Absent corpus callosum cataract immunodeficiency" MONDO_0009452 "Disgenet " 29331 EPG5 "Vici syndrome" MONDO:0009452 "ClinGen " 29357 ASXL3 "syndromic intellectual disability" MONDO:0000508 "ClinGen " 29357 ASXL3 "Global developmental delay" "Disgenet " 29357 ASXL3 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 29357 ASXL3 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 29357 ASXL3 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 29357 ASXL3 BRPS MONDO_0014205 "Disgenet " 29361 SELENOI SPG81 MONDO_0044737 "Disgenet " 29362 ZC3H12C Psoriases MONDO_0005083 "Disgenet " 29368 CFAP74 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 29368 CFAP74 "ciliary dyskinesia, primary, 49, without situs inversus" MONDO:0859353 "ClinGen " 29372 KIAA1755 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 2938 DMXL2 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 2938 DMXL2 "DEAFNESS, AUTOSOMAL DOMINANT 71" MONDO_0033258 "Disgenet " 2938 DMXL2 EIEE81 MONDO_0032858 "Disgenet " 2939 DNA2 "Mitochondrial Myopathies" MONDO_0009637 "Disgenet " 2939 DNA2 "Seckel syndrome" MONDO_0019342 "Disgenet " 2939 DNA2 "Rothmund Thomson Syndrome" MONDO_0013755 "Disgenet " 2940 DNAH1 "SPERMATOGENIC FAILURE 18" MONDO_0054615 "Disgenet " 2940 DNAH1 "CILIARY DYSKINESIA, PRIMARY, 37, WITH OR WITHOUT SITUS INVERSUS" MONDO_0033204 "Disgenet " 2940 DNAH1 "spermatogenic failure 18" MONDO:0054615 "ClinGen " 2940 DNAH1 "ciliary dyskinesia, primary, 37" MONDO:0033204 "ClinGen " 2940 DNAH1 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 29401 MYSM1 "Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome" MONDO_0033683 "Disgenet " 29401 MYSM1 "bone marrow failure syndrome 4" MONDO:0020856 "ClinGen " 29401 MYSM1 "BONE MARROW FAILURE SYNDROME 4" MONDO_0020856 "Disgenet " 2941 DNAH10 "spermatogenic failure 56" MONDO:0030430 "ClinGen " 2941 DNAH10 "primary ciliary dyskinesia" MONDO:0016575 "ClinGen " 2941 DNAH10 "Infertility, Male" MONDO_0005372 "Disgenet " 2941 DNAH10 SPGF56 MONDO_0030430 "Disgenet " 29418 FNIP1 "FNIP1-associated syndrome" MONDO:0100432 "ClinGen " 29419 EARS2 "mitochondrial disease" MONDO:0044970 "ClinGen " 29419 EARS2 "Leigh syndrome" MONDO:0009723 "ClinGen " 29419 EARS2 "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12" MONDO_0013971 "Disgenet " 2942 DNAH11 "primary ciliary dyskinesia 7" MONDO:0012748 "ClinGen " 2942 DNAH11 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 2942 DNAH11 "Kartageners Syndrome" MONDO_0016575 "Disgenet " 2942 DNAH11 "CILIARY DYSKINESIA, PRIMARY, 7" MONDO_0012748 "Disgenet " 2942 DNAH11 "Infertility, Male" MONDO_0005372 "Disgenet " 29420 RSPRY1 SEMDFA MONDO_0014748 "Disgenet " 29426 CCBE1 "HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1" MONDO_0016256 "Disgenet " 29426 CCBE1 "Lymphangiectasies and lymphedema Hennekam type" MONDO_0016256 "Disgenet " 29427 SH3TC2 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 29427 SH3TC2 "CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C" MONDO_0011113 "Disgenet " 29427 SH3TC2 HMSN MONDO_0012250 "Disgenet " 29427 SH3TC2 "Charcot-Marie-Tooth disease Type 4" MONDO_0018995 "Disgenet " 29427 SH3TC2 "obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy" MONDO:0015361 "ClinGen " 29427 SH3TC2 "HMSN I" MONDO_0019011 "Disgenet " 29427 SH3TC2 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 29427 SH3TC2 Scolioses MONDO_0005392 "Disgenet " 29435 WWC1 "Depressive neurosis" MONDO_0002050 "Disgenet " 29435 WWC1 Depression MONDO_0002050 "Disgenet " 29437 CLTRN "Hartnup Disease" MONDO_0009324 "Disgenet " 29437 CLTRN Aminoaciduria "Disgenet " 29441 KIF18A "Liver cell carcinoma" MONDO_0007256 "Disgenet " 29442 KIF21B "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 29450 GLIS2 "nephronophthisis 7" MONDO:0012680 "ClinGen " 29450 GLIS2 NPHP7 MONDO_0012680 "Disgenet " 29450 GLIS2 Nephronophthisis MONDO_0019005 "Disgenet " 29456 TOR1AIP1 LGMD2Y MONDO_0014900 "Disgenet " 29456 TOR1AIP1 "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 29456 TOR1AIP1 "TOR1AIP1-related multisystem disorder" MONDO:0100591 "ClinGen " 29456 TOR1AIP1 "TOR1AIP1-related myopathy" MONDO:0100582 "ClinGen " 29478 ROGDI "amelocerebrohypohidrotic syndrome" MONDO:0009185 "ClinGen " 29478 ROGDI "KOHLSCHUTTER-TONZ SYNDROME" MONDO_0009185 "Disgenet " 2948 DNAH2 "SPERMATOGENIC FAILURE 45" MONDO_0033671 "Disgenet " 29484 TET1 Schizophrenias MONDO_0005090 "Disgenet " 29489 KMT5A "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 29500 FCSK "congenital disorder of glycosylation with defective fucosylation 2" MONDO:0020777 "ClinGen " 29500 FCSK CDGF2 MONDO_0020777 "Disgenet " 29501 GPSM2 "Chudley-McCullough syndrome" MONDO:0011411 "ClinGen " 29501 GPSM2 "CHUDLEY-MCCULLOUGH SYNDROME" MONDO_0011411 "Disgenet " 29501 GPSM2 "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 29502 PJVK "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 29502 PJVK Hypoacusis MONDO_0005365 "Disgenet " 29502 PJVK "DEAFNESS, AUTOSOMAL RECESSIVE 59" MONDO_0012445 "Disgenet " 29503 LCOR "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 29508 KIDINS220 "ventriculomegaly and arthrogryposis" MONDO:0859184 "ClinGen " 29508 KIDINS220 "spastic paraplegia, intellectual disability, nystagmus, and obesity" MONDO:0015007 "ClinGen " 29508 KIDINS220 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 29508 KIDINS220 SINO MONDO_0015007 "Disgenet " 2951 DNAH6 "primary ciliary dyskinesia" MONDO:0016575 "ClinGen " 2951 DNAH6 "spermatogenic failure" MONDO:0004983 "ClinGen " 29511 CEP131 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 29514 GLDN Arthrogryposes MONDO_0015168 "Disgenet " 29521 C12orf57 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 29521 C12orf57 "Global developmental delay" "Disgenet " 29521 C12orf57 "Dysmorphism, corpus callosum agenesis and colobomas" MONDO_0009033 "Disgenet " 29529 TBL1XR1 MRD41 MONDO_0014842 "Disgenet " 29529 TBL1XR1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 29529 TBL1XR1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 29529 TBL1XR1 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 29529 TBL1XR1 "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 29529 TBL1XR1 "Plantar Lipomatosis, Unusual Facies, and Developmental Delay" MONDO_0011213 "Disgenet " 29529 TBL1XR1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 29529 TBL1XR1 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 2953 DNAH9 "ciliary dyskinesia, primary, 40" MONDO:0032664 "ClinGen " 2953 DNAH9 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 2953 DNAH9 "Inversus, Situs" MONDO_0010029 "Disgenet " 2953 DNAH9 "CILIARY DYSKINESIA, PRIMARY, 40" MONDO_0032664 "Disgenet " 29536 MAPKBP1 "NEPHRONOPHTHISIS 20" MONDO_0014997 "Disgenet " 29536 MAPKBP1 "nephronophthisis 20" MONDO:0014997 "ClinGen " 29550 RIC8A "Breast Neoplasms" MONDO_0021100 "Disgenet " 29557 NEXN "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 29557 NEXN CMD1A MONDO_0005021 "Disgenet " 29557 NEXN "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 29557 NEXN "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 29557 NEXN CMD1CC MONDO_0013147 "Disgenet " 29557 NEXN "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20" MONDO_0013477 "Disgenet " 29557 NEXN Cardiomyopathy MONDO_0004994 "Disgenet " 29557 NEXN "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 29558 NUAK2 Anencephaly MONDO_0000819 "Disgenet " 2956 DNASE1 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 2956 DNASE1 "systemic lupus erythematosus" MONDO:0007915 "ClinGen " 29561 ARV1 EIEE38 MONDO_0014868 "Disgenet " 29563 CCDC92 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 29563 CCDC92 "Coronary Disease" MONDO_0005010 "Disgenet " 29569 LIPT1 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 29569 LIPT1 "Leigh syndrome" MONDO:0009723 "ClinGen " 29579 SPATA18 "Breast Neoplasms" MONDO_0021100 "Disgenet " 29594 UQCRQ "Leigh syndrome" MONDO:0009723 "ClinGen " 29594 UQCRQ "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4" MONDO_0014065 "Disgenet " 29599 DNAI7 "Lung Neoplasm" MONDO_0002732 "Disgenet " 2960 DNASE2 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 29602 PDPN "Mesothelioma, malignant" MONDO_0006292 "Disgenet " 29605 SH2B3 "Idiopathic thrombocythemia" MONDO_0005029 "Disgenet " 29605 SH2B3 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 29605 SH2B3 Myelofibrosis MONDO_0009692 "Disgenet " 29605 SH2B3 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 29605 SH2B3 Thrombocytoses MONDO_0002249 "Disgenet " 29605 SH2B3 "Myelosclerosis with myeloid metaplasia" MONDO_0800305 "Disgenet " 29605 SH2B3 JMML MONDO_0011908 "Disgenet " 29605 SH2B3 "Coronary Disease" MONDO_0005010 "Disgenet " 29605 SH2B3 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 29605 SH2B3 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 29605 SH2B3 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 29605 SH2B3 "Cerebrovascular accident" MONDO_0005098 "Disgenet " 2961 DYNC1H1 Microcephalies MONDO_0001149 "Disgenet " 2961 DYNC1H1 HMSN MONDO_0012250 "Disgenet " 2961 DYNC1H1 "Distal spinal muscular atrophy" MONDO_0001516 "Disgenet " 2961 DYNC1H1 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 2961 DYNC1H1 Pachygyria MONDO_0013541 "Disgenet " 2961 DYNC1H1 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 2961 DYNC1H1 "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13" MONDO_0013805 "Disgenet " 2961 DYNC1H1 "Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant" MONDO_0008026 "Disgenet " 2961 DYNC1H1 "Atrophy, Spinal Muscular" MONDO_0001516 "Disgenet " 2961 DYNC1H1 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 2961 DYNC1H1 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O" MONDO_0013644 "Disgenet " 2961 DYNC1H1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 2961 DYNC1H1 Lissencephaly MONDO_0018838 "Disgenet " 2961 DYNC1H1 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 2961 DYNC1H1 Polymicrogyria MONDO_0000087 "Disgenet " 2961 DYNC1H1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 2961 DYNC1H1 SMALED1 MONDO_0018190 "Disgenet " 2961 DYNC1H1 "obsolete neuronopathy, distal hereditary motor" MONDO:0000075 "ClinGen " 2962 DYNC2H1 "asphyxiating thoracic dystrophy 3" MONDO:0013127 "ClinGen " 2962 DYNC2H1 Ciliopathies MONDO_0005308 "Disgenet " 2962 DYNC2H1 "Skeletal dysplasia" MONDO_0018230 "Disgenet " 2962 DYNC2H1 "Polydactyly with neonatal chondrodystrophy, type 3" MONDO_0013127 "Disgenet " 2962 DYNC2H1 "Short Rib Polydactyly Syndrome" MONDO_0015461 "Disgenet " 2962 DYNC2H1 "Short rib syndrome" MONDO_0014287 "Disgenet " 2962 DYNC2H1 "Asphyxiating thoracic dystrophy" MONDO_0018770 "Disgenet " 2962 DYNC2H1 "Saldino Noonan Syndrome" MONDO_0015461 "Disgenet " 29622 MCAT "optic atrophy 15" MONDO:0957935 "ClinGen " 29623 MAN2B2 "MAN2B2 deficiency" MONDO:0800141 "ClinGen " 29623 MAN2B2 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 29634 MEGF10 "MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT" MONDO_0859515 "Disgenet " 29634 MEGF10 "MEGF10-related myopathy" MONDO:0013731 "ClinGen " 29634 MEGF10 Myopathy MONDO_0003939 "Disgenet " 29634 MEGF10 EMARDD MONDO_0013731 "Disgenet " 29634 MEGF10 "Deglutition Disorders" "Disgenet " 29636 MNS1 "primary ciliary dyskinesia" MONDO:0016575 "ClinGen " 29636 MNS1 "heterotaxia syndrome" MONDO_0018677 "Disgenet " 29643 MLPH GS3 MONDO_0012220 "Disgenet " 29650 PKMYT1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 29658 MESP1 "congenital heart disorder" MONDO_0005453 "Disgenet " 29658 MESP1 "congenital heart disease" MONDO:0005453 "ClinGen " 29661 OMA1 CRC MONDO_0005335 "Disgenet " 29666 MTFMT "Leigh syndrome" MONDO:0009723 "ClinGen " 29666 MTFMT MC1DN27 MONDO_0032631 "Disgenet " 29666 MTFMT "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15" MONDO_0013987 "Disgenet " 29666 MTFMT "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 29669 IFT43 RP81 MONDO_0036482 "Disgenet " 29669 IFT43 SRTD18 MONDO_0036483 "Disgenet " 29669 IFT43 CED1 MONDO_0009032 "Disgenet " 29669 IFT43 "Cranioectodermal dysplasia" MONDO_0009032 "Disgenet " 29670 GNPTAB "Polydystrophy, Pseudo-Hurler" MONDO_0018931 "Disgenet " 29670 GNPTAB GNPTAB-mucolipidosis MONDO:0100122 "ClinGen " 29670 GNPTAB "MUCOLIPIDOSIS II ALPHA/BETA" MONDO_0009650 "Disgenet " 29670 GNPTAB "I Cell Disease" MONDO_0009650 "Disgenet " 29670 GNPTAB Mucolipidoses MONDO_0009738 "Disgenet " 29673 MFAP5 "Cancer, Breast" MONDO_0007254 "Disgenet " 29673 MFAP5 "Aortic Aneurysm, Thoracic" MONDO_0005396 "Disgenet " 29673 MFAP5 "familial thoracic aortic aneurysm and aortic dissection" MONDO:0019625 "ClinGen " 29675 CLCC1 "RETINITIS PIGMENTOSA 32" MONDO_0012363 "Disgenet " 29678 MSTO1 "mitochondrial disease" MONDO:0044970 "ClinGen " 29678 MSTO1 "Mitochondrial Myopathies" MONDO_0009637 "Disgenet " 29679 PAM16 "Chondrodysplasia, Megarbane-Dagher-Melki Type" MONDO_0013223 "Disgenet " 29682 GFM2 "Leigh syndrome" MONDO:0009723 "ClinGen " 29682 GFM2 COXPD39 MONDO_0032726 "Disgenet " 29685 IARS2 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 29685 IARS2 "Leigh syndrome" MONDO:0009723 "ClinGen " 29685 IARS2 "CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA" MONDO_0014455 "Disgenet " 29685 IARS2 Cataracts MONDO_0005129 "Disgenet " 2972 DNM1 "developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 2972 DNM1 "developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 2972 DNM1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 2972 DNM1 "epileptic encephalopathy" "Disgenet " 2972 DNM1 "Infantile spasms" MONDO_0018097 "Disgenet " 2972 DNM1 "Lennox-Gastaut syndrome" MONDO_0016532 "Disgenet " 2972 DNM1 Epilepsies MONDO_0005027 "Disgenet " 2972 DNM1 "Global developmental delay" "Disgenet " 2972 DNM1 EIEE31 MONDO_0014598 "Disgenet " 2972 DNM1 Schizophrenias MONDO_0005090 "Disgenet " 2973 DNM1L "Leigh syndrome" MONDO:0009723 "ClinGen " 2973 DNM1L "encephalopathy due to mitochondrial and peroxisomal fission defect" MONDO:0054865 "ClinGen " 2973 DNM1L "Leigh syndrome" MONDO:0009723 "ClinGen " 2973 DNM1L "OPTIC ATROPHY 1" MONDO_0020250 "Disgenet " 2973 DNM1L Obesity MONDO_0019182 "Disgenet " 2973 DNM1L "Atrophy, Optic" MONDO_0003608 "Disgenet " 2973 DNM1L "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 2973 DNM1L Microcephalies MONDO_0001149 "Disgenet " 2973 DNM1L "ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1" MONDO_0013726 "Disgenet " 2973 DNM1L "Parkinson Disease" MONDO_0014796 "Disgenet " 2973 DNM1L "OPTIC ATROPHY 5" MONDO_0012543 "Disgenet " 2974 DNM2 "CONGEN NONPROGRESSIVE MYOPATHIES" MONDO_0002921 "Disgenet " 2974 DNM2 "X-linked centronuclear myopathy" MONDO_0010683 "Disgenet " 2974 DNM2 LCCS5 MONDO_0014149 "Disgenet " 2974 DNM2 "Charcot-Marie-Tooth disease" MONDO:0015626 "ClinGen " 2974 DNM2 "autosomal dominant centronuclear myopathy" MONDO:0008048 "ClinGen " 2974 DNM2 CNM1 MONDO_0018947 "Disgenet " 2974 DNM2 "MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT" MONDO_0008048 "Disgenet " 2974 DNM2 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 2974 DNM2 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 2974 DNM2 "Centronuclear myopathy" MONDO_0018947 "Disgenet " 2974 DNM2 Myopathy MONDO_0003939 "Disgenet " 2974 DNM2 "CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B" MONDO_0011674 "Disgenet " 2976 DNMT1 "Hereditary Sensory Neuropathies" MONDO_0015364 "Disgenet " 2976 DNMT1 Asthma MONDO_0004979 "Disgenet " 2976 DNMT1 "autosomal dominant cerebellar ataxia, deafness and narcolepsy" MONDO:0011397 "ClinGen " 2976 DNMT1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 2976 DNMT1 "NEUROPATHY, HEREDITARY SENSORY, TYPE IE" MONDO_0013584 "Disgenet " 2976 DNMT1 "CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT" MONDO_0011397 "Disgenet " 2976 DNMT1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2976 DNMT1 "Carcinoma, Pancreas Duct-Cell" MONDO_0005184 "Disgenet " 2976 DNMT1 "Anxiety Disorder" MONDO_0005618 "Disgenet " 2976 DNMT1 Medulloblastoma MONDO_0007959 "Disgenet " 2976 DNMT1 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 2976 DNMT1 "Cerebellar atrophy" "Disgenet " 2976 DNMT1 Adenocarcinoma MONDO_0004970 "Disgenet " 2976 DNMT1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 2976 DNMT1 hypernephroma MONDO_0005086 "Disgenet " 2976 DNMT1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 2976 DNMT1 Schizophrenias MONDO_0005090 "Disgenet " 2976 DNMT1 "Hereditary Sensory and Autonomic Neuropathies" MONDO_0015364 "Disgenet " 2976 DNMT1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 2976 DNMT1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 2976 DNMT1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 2976 DNMT1 Carcinoma MONDO_0004993 "Disgenet " 2976 DNMT1 "GRAVES DISEASE" MONDO_0005364 "Disgenet " 2978 DNMT3A "Acute monocytic leukemia" MONDO_0007896 "Disgenet " 2978 DNMT3A "Clonal Cytopenia of Undetermined Significance" "Disgenet " 2978 DNMT3A "Multiple Myeloma" MONDO_0009693 "Disgenet " 2978 DNMT3A "Early T-Cell Precursor Lymphoblastic Leukemia" MONDO_0100291 "Disgenet " 2978 DNMT3A Melanoma MONDO_0005105 "Disgenet " 2978 DNMT3A "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 2978 DNMT3A Glioblastoma MONDO_0018177 "Disgenet " 2978 DNMT3A "Chronic myelomonocytic leukemia" MONDO_0020311 "Disgenet " 2978 DNMT3A Obesity MONDO_0019182 "Disgenet " 2978 DNMT3A "HEYN-SPROUL-JACKSON SYNDROME" MONDO_0032882 "Disgenet " 2978 DNMT3A "TATTON-BROWN-RAHMAN SYNDROME" MONDO_0014382 "Disgenet " 2978 DNMT3A "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 2978 DNMT3A "Tatton-Brown-Rahman overgrowth syndrome" MONDO:0014382 "ClinGen " 2978 DNMT3A "Heyn-Sproul-Jackson syndrome" MONDO:0032882 "ClinGen " 2978 DNMT3A "Angioimmunoblastic Lymphadenopathies" MONDO_0004977 "Disgenet " 2978 DNMT3A "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 2978 DNMT3A "Lymphoma, Peripheral T-Cell" MONDO_0004964 "Disgenet " 2978 DNMT3A "Breast Neoplasms" MONDO_0021100 "Disgenet " 2978 DNMT3A "Lung Neoplasm" MONDO_0002732 "Disgenet " 2978 DNMT3A "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 2978 DNMT3A "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 2978 DNMT3A "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 2978 DNMT3A hypernephroma MONDO_0005086 "Disgenet " 2978 DNMT3A "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 2978 DNMT3A ALL MONDO_0004967 "Disgenet " 2978 DNMT3A "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 2978 DNMT3A JMML MONDO_0011908 "Disgenet " 2978 DNMT3A "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 2978 DNMT3A Dwarfism "Disgenet " 2978 DNMT3A "Disorder, Myeloproliferative" MONDO_0020076 "Disgenet " 2978 DNMT3A "Dysmyelopoietic Syndrome" MONDO_0018881 "Disgenet " 2979 DNMT3B "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 2979 DNMT3B CIID MONDO_0000133 "Disgenet " 2979 DNMT3B "Breast Neoplasms" MONDO_0021100 "Disgenet " 2979 DNMT3B Schizophrenias MONDO_0005090 "Disgenet " 2979 DNMT3B "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 2979 DNMT3B "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 2979 DNMT3B FSHD4 MONDO_0030355 "Disgenet " 2979 DNMT3B "IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1" MONDO_0000133 "Disgenet " 2979 DNMT3B "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 2979 DNMT3B "Early onset schizophrenia" MONDO_0019939 "Disgenet " 2979 DNMT3B "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 2979 DNMT3B Carcinoma MONDO_0004993 "Disgenet " 2979 DNMT3B "immunodeficiency-centromeric instability-facial anomalies syndrome 1" MONDO:0009454 "ClinGen " 2979 DNMT3B "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 2979 DNMT3B FSHD MONDO_0001347 "Disgenet " 2979 DNMT3B "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 2979 DNMT3B "malignant squamous cell neoplasm of oral cavity (diagnosis)" MONDO_0004958 "Disgenet " 2979 DNMT3B "Deficiency Syndrome, Immunological" MONDO_0021094 "Disgenet " 2979 DNMT3B "Autoimmune Thrombocytopenic Purpuras" MONDO_0008558 "Disgenet " 29805 NFKBIZ "hereditary nonpolyposis colon cancer" MONDO:0018630 "ClinGen " 29813 SAP130 "Hypoplastic left heart syndrome" MONDO_0004933 "Disgenet " 29822 MYO16 Schizophrenias MONDO_0005090 "Disgenet " 29843 NSMF IHH MONDO_0007794 "Disgenet " 29843 NSMF HH9 MONDO_0013911 "Disgenet " 29843 NSMF Hypopituitarism MONDO_0013961 "Disgenet " 29843 NSMF "Syndrome, Kallmann's" MONDO_0013961 "Disgenet " 29843 NSMF "Hypogonadotropic hypogonadism" MONDO_0014102 "Disgenet " 29849 CADM2 Obesity MONDO_0019182 "Disgenet " 29849 CADM2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 29853 HECW2 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 29853 HECW2 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 29859 ABI3 "Alzheimer Disease" MONDO_0012630 "Disgenet " 29861 CHRDL1 Macrocornea MONDO_0010649 "Disgenet " 2988 DOCK2 "IMMUNODEFICIENCY 40" MONDO_0014637 "Disgenet " 2988 DOCK2 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 2988 DOCK2 "DOCK2 deficiency" MONDO:0014637 "ClinGen " 29882 ISCU HML MONDO_0009706 "Disgenet " 29882 ISCU Myopathy MONDO_0003939 "Disgenet " 29882 ISCU "mitochondrial disease" MONDO:0044970 "ClinGen " 29889 NLRC3 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 2989 DOCK3 "Global developmental delay" "Disgenet " 2990 DOK1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 29905 CSDE1 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 29913 ZC3HC1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 29914 NUP107 NPHS11 MONDO_0014752 "Disgenet " 29914 NUP107 ODG6 MONDO_0054850 "Disgenet " 29914 NUP107 "Menopause, Premature" MONDO_0001119 "Disgenet " 29917 MDM1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 29918 NDUFAF3 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 29918 NDUFAF3 "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18" MONDO_0032623 "Disgenet " 29918 NDUFAF3 "mitochondrial disease" MONDO:0044970 "ClinGen " 29926 NOP58 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 2993 DONSON "EAR, PATELLA, SHORT STATURE SYNDROME" MONDO_0016817 "Disgenet " 2993 DONSON Microcephalies MONDO_0001149 "Disgenet " 2993 DONSON Dwarfism "Disgenet " 2993 DONSON "MICROCEPHALY-MICROMELIA SYNDROME" MONDO_0009619 "Disgenet " 29932 COASY "PONTOCEREBELLAR HYPOPLASIA, TYPE 12" MONDO_0032643 "Disgenet " 29932 COASY "Neurodegeneration with brain iron accumulation (NBIA)" MONDO_0018307 "Disgenet " 29932 COASY "Hallervorden Spatz Syndrome" MONDO_0024457 "Disgenet " 29932 COASY NBIA6 MONDO_0014290 "Disgenet " 29937 CCDC65 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 29937 CCDC65 "primary ciliary dyskinesia 27" MONDO:0014215 "ClinGen " 29937 CCDC65 "CILIARY DYSKINESIA, PRIMARY, 27" MONDO_0014215 "Disgenet " 29941 GATAD1 CMD2B MONDO_0013848 "Disgenet " 29941 GATAD1 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 29941 GATAD1 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 29944 TENM3 "Colobomatous microphthalmia" MONDO_0000170 "Disgenet " 29945 TENM4 Schizophrenias MONDO_0005090 "Disgenet " 29945 TENM4 "Bipolar Disorders" MONDO_0004985 "Disgenet " 29945 TENM4 "Unspecified nonorganic psychosis" "Disgenet " 29945 TENM4 Psychosis MONDO_0005485 "Disgenet " 29945 TENM4 "TREMOR, HEREDITARY ESSENTIAL, 5" MONDO_0014756 "Disgenet " 29947 TRAK1 EIEE68 MONDO_0032598 "Disgenet " 2995 DPAGT1 CDGIj MONDO_0011964 "Disgenet " 2995 DPAGT1 "CONGEN MYASTHENIA GRAVIS" MONDO_0018940 "Disgenet " 2995 DPAGT1 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 2995 DPAGT1 "DPAGT1-congenital disorder of glycosylation" MONDO:0011964 "ClinGen " 2995 DPAGT1 CMSTA2 MONDO_0013883 "Disgenet " 29953 OIT3 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 29955 SLC51A "Bile Duct Obstructions" MONDO_0001751 "Disgenet " 29955 SLC51A "primary biliary cirrhosis" MONDO_0005388 "Disgenet " 29956 SLC51B "Bile Duct Obstructions" MONDO_0001751 "Disgenet " 29958 SDR9C7 ARCI13 MONDO_0033092 "Disgenet " 30000 BBS9 Ciliopathies MONDO_0005308 "Disgenet " 30000 BBS9 "Primary ovarian failure" MONDO_0005387 "Disgenet " 30000 BBS9 "BARDET-BIEDL SYNDROME 9" MONDO_0014437 "Disgenet " 30000 BBS9 "BBS9-related ciliopathy" MONDO:0700236 "ClinGen " 30000 BBS9 "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 30022 PPARGC1B Obesity MONDO_0019182 "Disgenet " 30022 PPARGC1B "Breast Neoplasms" MONDO_0021100 "Disgenet " 30024 PEX5L "Depressive neurosis" MONDO_0002050 "Disgenet " 30024 PEX5L Depression MONDO_0002050 "Disgenet " 3003 DPH1 "Global developmental delay" "Disgenet " 3003 DPH1 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 3003 DPH1 "developmental delay with short stature, dysmorphic facial features, and sparse hair" MONDO:0031632 "ClinGen " 3003 DPH1 "LOUCKS-INNES SYNDROME" MONDO_0031632 "Disgenet " 30035 PIK3R5 AOA3 MONDO_0014084 "Disgenet " 30035 PIK3R5 "ataxia with oculomotor apraxia type 3" MONDO:0014084 "ClinGen " 3004 DPH2 "DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2" MONDO_0100217 "Disgenet " 30042 LHPP "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 30042 LHPP "Depressions, Unipolar" MONDO_0002050 "Disgenet " 30043 PAG1 ALL MONDO_0004967 "Disgenet " 30046 PINX1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3005 DPM1 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 3005 DPM1 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie" MONDO_0012123 "Disgenet " 3005 DPM1 "congenital disorder of glycosylation type 1E" MONDO:0012123 "ClinGen " 3006 DPM2 "congenital muscular dystrophy with intellectual disability and severe epilepsy" MONDO:0014023 "ClinGen " 3006 DPM2 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu" MONDO_0014023 "Disgenet " 3007 DPM3 "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15" MONDO_0033556 "Disgenet " 3007 DPM3 "DPM3-congenital disorder of glycosylation" MONDO:0013049 "ClinGen " 3007 DPM3 CDGIo MONDO_0013049 "Disgenet " 30074 POLR3A Leukodystrophy MONDO_0019046 "Disgenet " 30074 POLR3A "POLR3A-related disorder" MONDO:0700276 "ClinGen " 30074 POLR3A "Spastic ataxia" MONDO_0017845 "Disgenet " 30074 POLR3A "Movement Disorders" MONDO_0005395 "Disgenet " 30074 POLR3A "LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM" MONDO_0011897 "Disgenet " 30074 POLR3A "Wiedemann-Rautenstrauch syndrome" MONDO_0009910 "Disgenet " 30074 POLR3A "4H leukodystrophy" "Disgenet " 30077 REEP5 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 30077 REEP5 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 30078 REEP6 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 30078 REEP6 "RETINITIS PIGMENTOSA 77" MONDO_0015013 "Disgenet " 30078 REEP6 "Autosomal recessive retinitis pigmentosa" "Disgenet " 30078 REEP6 "inherited retinal dystrophy" MONDO:0019118 "ClinGen " 3009 DPP4 "Middle East respiratory syndrome" MONDO_0005719 "Disgenet " 3009 DPP4 Depression MONDO_0002050 "Disgenet " 3009 DPP4 "Depressive neurosis" MONDO_0002050 "Disgenet " 3009 DPP4 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 30092 NAMPT Obesity MONDO_0019182 "Disgenet " 30092 NAMPT CRC MONDO_0005335 "Disgenet " 30092 NAMPT "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 30092 NAMPT Colitides MONDO_0005534 "Disgenet " 3010 DPP6 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 3010 DPP6 "Idiopathic ventricular fibrillation" MONDO_0100234 "Disgenet " 3010 DPP6 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 3010 DPP6 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 3010 DPP6 MRD33 MONDO_0014580 "Disgenet " 30100 PSENEN "Dowling-Degos disease" MONDO_0008371 "Disgenet " 30100 PSENEN "Hidradenitis Suppurativa" MONDO_0006559 "Disgenet " 3012 DPYD "Childhood autism" MONDO_0005260 "Disgenet " 3012 DPYD "Breast Neoplasms" MONDO_0021100 "Disgenet " 3012 DPYD Neutropenia MONDO_0001475 "Disgenet " 3012 DPYD "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 3012 DPYD "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3012 DPYD "Head and Neck Neoplasms" MONDO_0005586 "Disgenet " 3012 DPYD "Lung Neoplasm" MONDO_0002732 "Disgenet " 3012 DPYD "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 3012 DPYD ALL MONDO_0004967 "Disgenet " 3012 DPYD "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 3012 DPYD "Global developmental delay" "Disgenet " 3012 DPYD "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 3012 DPYD Schizophrenias MONDO_0005090 "Disgenet " 3012 DPYD "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 3012 DPYD "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 3012 DPYD "Dihydropyrimidine dehydrogenase deficiency" MONDO_0010130 "Disgenet " 3012 DPYD "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3012 DPYD "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 30129 POP1 ANXD2 MONDO_0054561 "Disgenet " 30129 POP1 "Cancer, Breast" MONDO_0007254 "Disgenet " 30129 POP1 "Anauxetic dysplasia" MONDO_0011773 "Disgenet " 3014 DPYSL2 "Alzheimer Disease" MONDO_0012630 "Disgenet " 3014 DPYSL2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 3014 DPYSL2 "Depressive neurosis" MONDO_0002050 "Disgenet " 3014 DPYSL2 Depression MONDO_0002050 "Disgenet " 3014 DPYSL2 "Paranoid Schizophrenia" MONDO_0001484 "Disgenet " 3014 DPYSL2 CRC MONDO_0005335 "Disgenet " 30140 TBKBP1 "Ankylosing spondylitis" MONDO_0005306 "Disgenet " 30142 GDF15 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 30142 GDF15 "Heart failure" MONDO_0005252 "Disgenet " 30142 GDF15 "Coronary Disease" MONDO_0005010 "Disgenet " 30142 GDF15 "Hypertrophy, Left Ventricular" "Disgenet " 30142 GDF15 "Gastrointestinal Neoplasm" MONDO_0002516 "Disgenet " 30142 GDF15 Melanoma MONDO_0005105 "Disgenet " 30142 GDF15 "Congestive heart failure" MONDO_0005252 "Disgenet " 30142 GDF15 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 30142 GDF15 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 30142 GDF15 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 30171 HSPB8 "MYOPATHY, AUTOPHAGIC VACUOLAR, INFANTILE-ONSET" MONDO_0010684 "Disgenet " 30171 HSPB8 "Autosomal dominant Charcot-Marie-Tooth disease type 2L (disorder)" MONDO_0012096 "Disgenet " 30171 HSPB8 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L" MONDO_0012096 "Disgenet " 30171 HSPB8 "neuronopathy, distal hereditary motor, autosomal dominant" MONDO:0015362 "ClinGen " 30171 HSPB8 "distal muscular dystrophy" MONDO_0018949 "Disgenet " 30171 HSPB8 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 30171 HSPB8 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 30171 HSPB8 "Distal spinal muscular atrophy" MONDO_0001516 "Disgenet " 30172 STRADA Epilepsies MONDO_0005027 "Disgenet " 30172 STRADA PMSE MONDO_0012611 "Disgenet " 3018 SLC26A3 "Defective Cl-/HCO-3 exchange in ileum and colon" MONDO_0008964 "Disgenet " 3018 SLC26A3 Dysentery MONDO_0001517 "Disgenet " 3018 SLC26A3 "Ulcerative colitis" MONDO_0005101 "Disgenet " 30185 CRBN "Autosomal recessive non-syndromic intellectual disability" MONDO_0019502 "Disgenet " 30185 CRBN "Multiple Myeloma" MONDO_0009693 "Disgenet " 30185 CRBN "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 30185 CRBN MRT2A MONDO_0011828 "Disgenet " 30185 CRBN "intellectual disability" MONDO:0001071 "ClinGen " 3020 DRD1 "Childhood autism" MONDO_0005260 "Disgenet " 3020 DRD1 "High blood pressure" MONDO_0005044 "Disgenet " 3020 DRD1 "Parkinson Disease" MONDO_0014796 "Disgenet " 3020 DRD1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 3020 DRD1 Schizophrenias MONDO_0005090 "Disgenet " 3020 DRD1 Depression MONDO_0002050 "Disgenet " 3020 DRD1 "Depressive neurosis" MONDO_0002050 "Disgenet " 3020 DRD1 Alcoholism MONDO_0002046 "Disgenet " 30207 ARHGAP29 "Cleft palate with cleft lip" MONDO_0016044 "Disgenet " 30207 ARHGAP29 "Cleft lip with or without cleft palate" "Disgenet " 30207 ARHGAP29 "Cancer, Breast" MONDO_0007254 "Disgenet " 30207 ARHGAP29 "orofacial cleft" MONDO:0000358 "ClinGen " 30212 TANC2 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 30212 TANC2 Epilepsies MONDO_0005027 "Disgenet " 30212 TANC2 "intellectual developmental disorder with autistic features and language delay, with or without seizures" MONDO:0030051 "ClinGen " 30212 TANC2 "INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES" MONDO_0030051 "Disgenet " 30213 ATP13A2 "Neurodegeneration with brain iron accumulation (NBIA)" MONDO_0018307 "Disgenet " 30213 ATP13A2 "Neuronal ceroid lipofuscinosis" MONDO_0008767 "Disgenet " 30213 ATP13A2 "Kufor-Rakeb syndrome" MONDO:0011706 "ClinGen " 30213 ATP13A2 KRS MONDO_0011706 "Disgenet " 30213 ATP13A2 "Parkinson Disease" MONDO_0014796 "Disgenet " 30213 ATP13A2 Parkinsonism MONDO_0021095 "Disgenet " 30213 ATP13A2 SPG78 MONDO_0014975 "Disgenet " 30220 RFT1 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 30220 RFT1 CDG1N MONDO_0012783 "Disgenet " 30220 RFT1 "RFT1-congenital disorder of glycosylation" MONDO:0012783 "ClinGen " 30224 SLC52A2 "Brown-Vialetto-van Laere syndrome 2" MONDO:0013867 "ClinGen " 30224 SLC52A2 "Auditory neuropathy spectrum disorder (disorder)" MONDO_0021944 "Disgenet " 30224 SLC52A2 "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 30224 SLC52A2 "Pontobulbar palsy and neurosensory deafness" MONDO_0008891 "Disgenet " 30224 SLC52A2 BVVLS2 MONDO_0013867 "Disgenet " 30228 PREPL "Atypical hypotonia cystinuria syndrome (disorder)" MONDO_0016539 "Disgenet " 30228 PREPL "CONGEN MYASTHENIA GRAVIS" MONDO_0018940 "Disgenet " 30228 PREPL "2p21 microdeletion syndrome (disorder)" MONDO_0015583 "Disgenet " 30228 PREPL "HYPOTONIA-CYSTINURIA SYNDROME" MONDO_0011669 "Disgenet " 30228 PREPL Cystinuria MONDO_0009067 "Disgenet " 30228 PREPL CMS22 MONDO_0044299 "Disgenet " 30228 PREPL "Menopause, Premature" MONDO_0001119 "Disgenet " 3023 DRD2 "TOBACCO ABUSE" MONDO_0008575 "Disgenet " 3023 DRD2 "Dependence, Cannabis" MONDO_0005689 "Disgenet " 3023 DRD2 Catalepsies "Disgenet " 3023 DRD2 Anhedonia "Disgenet " 3023 DRD2 DYT11 MONDO_0000903 "Disgenet " 3023 DRD2 "Cocaine abuse" MONDO_0004456 "Disgenet " 3023 DRD2 "Migraine with aura" MONDO_0005475 "Disgenet " 3023 DRD2 "High blood pressure" MONDO_0005044 "Disgenet " 3023 DRD2 "Abuse, Marihuana" MONDO_0005689 "Disgenet " 3023 DRD2 "Neoplasm, Pituitary" MONDO_0002109 "Disgenet " 3023 DRD2 "Dependence, Nicotine" MONDO_0008575 "Disgenet " 3023 DRD2 Hyperprolactinemia MONDO_0005804 "Disgenet " 3023 DRD2 Dyskinesia MONDO_0003441 "Disgenet " 3023 DRD2 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 3023 DRD2 Depression MONDO_0002050 "Disgenet " 3023 DRD2 "Cocaine dependence" MONDO_0005186 "Disgenet " 3023 DRD2 "Movement Disorders" MONDO_0005395 "Disgenet " 3023 DRD2 "Anxiety Disorder" MONDO_0005618 "Disgenet " 3023 DRD2 Obesity MONDO_0019182 "Disgenet " 3023 DRD2 "Parkinson Disease" MONDO_0014796 "Disgenet " 3023 DRD2 "Abuse, Alcohol" MONDO_0002046 "Disgenet " 3023 DRD2 "Language Disorder" MONDO_0004750 "Disgenet " 3023 DRD2 Delirium MONDO_0045057 "Disgenet " 3023 DRD2 "Attention-Deficit Disorder NOS" MONDO_0005302 "Disgenet " 3023 DRD2 "Disorders, Impulse Control" MONDO_0001162 "Disgenet " 3023 DRD2 "Depressive neurosis" MONDO_0002050 "Disgenet " 3023 DRD2 Parkinsonism MONDO_0021095 "Disgenet " 3023 DRD2 "Opioid dependence" MONDO_0005530 "Disgenet " 3023 DRD2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 3023 DRD2 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 3023 DRD2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 3023 DRD2 "Heroin Dependence" MONDO_0005367 "Disgenet " 3023 DRD2 "Affective Disorders" MONDO_0005371 "Disgenet " 3023 DRD2 Alcoholism MONDO_0002046 "Disgenet " 3023 DRD2 Schizophrenias MONDO_0005090 "Disgenet " 30237 CC2D1A "Childhood autism" MONDO_0005260 "Disgenet " 30237 CC2D1A "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 30237 CC2D1A "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 30237 CC2D1A "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 30237 CC2D1A "Depressions, Unipolar" MONDO_0002050 "Disgenet " 30237 CC2D1A "Unspecified mental retardation" MONDO_0001071 "Disgenet " 30237 CC2D1A Ciliopathies MONDO_0005308 "Disgenet " 30238 WLS "ZAKI SYNDROME" MONDO_0859209 "Disgenet " 3024 DRD3 Schizophrenias MONDO_0005090 "Disgenet " 3024 DRD3 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 3024 DRD3 "Affective Disorders" MONDO_0005371 "Disgenet " 3024 DRD3 "Gilles de la Tourette's syndrome" MONDO_0007661 "Disgenet " 3024 DRD3 "Pathological gambling" MONDO_0011662 "Disgenet " 3024 DRD3 "Cocaine dependence" MONDO_0005186 "Disgenet " 3024 DRD3 "Cocaine abuse" MONDO_0004456 "Disgenet " 3024 DRD3 "Bipolar Disorders" MONDO_0004985 "Disgenet " 3024 DRD3 "Depressive neurosis" MONDO_0002050 "Disgenet " 3024 DRD3 Alcoholism MONDO_0002046 "Disgenet " 3024 DRD3 "Benign essential tremor" MONDO_0003233 "Disgenet " 3024 DRD3 Depression MONDO_0002050 "Disgenet " 3024 DRD3 Delirium MONDO_0045057 "Disgenet " 3024 DRD3 "Movement Disorders" MONDO_0005395 "Disgenet " 3024 DRD3 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 3024 DRD3 "Disorders, Impulse Control" MONDO_0001162 "Disgenet " 3024 DRD3 "Childhood autism" MONDO_0005260 "Disgenet " 3024 DRD3 "Abuse, Alcohol" MONDO_0002046 "Disgenet " 30242 TUSC3 "intellectual disability" MONDO:0001071 "ClinGen " 30242 TUSC3 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 3025 DRD4 "Attention Deficit Disorder with Hyperactivity" MONDO_0100518 "Disgenet " 3025 DRD4 "cannabis use (diagnosis)" "Disgenet " 3025 DRD4 "Affective Disorder, Seasonal" MONDO_0000694 "Disgenet " 3025 DRD4 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 3025 DRD4 "Tic Disorders" MONDO_0002420 "Disgenet " 3025 DRD4 "Alcoholic Intoxication" "Disgenet " 3025 DRD4 "Anxiety, Separation" MONDO_0001098 "Disgenet " 3025 DRD4 "Affective Disorders" MONDO_0005371 "Disgenet " 3025 DRD4 "Bipolar Disorders" MONDO_0004985 "Disgenet " 3025 DRD4 "Depressive neurosis" MONDO_0002050 "Disgenet " 3025 DRD4 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 3025 DRD4 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 3025 DRD4 "Abuse, Marihuana" MONDO_0005689 "Disgenet " 3025 DRD4 "Abuse, Alcohol" MONDO_0002046 "Disgenet " 3025 DRD4 Depression MONDO_0002050 "Disgenet " 3025 DRD4 "Attention-Deficit Disorder NOS" MONDO_0005302 "Disgenet " 3025 DRD4 Alcoholism MONDO_0002046 "Disgenet " 3025 DRD4 "Conduct Disorder" MONDO_0005352 "Disgenet " 3025 DRD4 "Abuse, Drug" MONDO_0002491 "Disgenet " 3025 DRD4 "Reading disorder" MONDO_0005489 "Disgenet " 3025 DRD4 "Pathological gambling" MONDO_0011662 "Disgenet " 3025 DRD4 "Gilles de la Tourette's syndrome" MONDO_0007661 "Disgenet " 3025 DRD4 "Heroin Dependence" MONDO_0005367 "Disgenet " 3025 DRD4 Schizophrenias MONDO_0005090 "Disgenet " 30251 BAMBI "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 30260 PNPO "Status Epilepticus" MONDO_0002125 "Disgenet " 30260 PNPO "pyridoxal phosphate-responsive seizures" MONDO:0012407 "ClinGen " 30260 PNPO "PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY" MONDO_0012407 "Disgenet " 30291 G3BP2 "Cancer, Breast" MONDO_0007254 "Disgenet " 303 AEBP1 EDSCLL2 MONDO_0054813 "Disgenet " 30308 RGMA "Multiple Sclerosis" MONDO_0005301 "Disgenet " 3031 ARID3A "Liver cell carcinoma" MONDO_0007256 "Disgenet " 30322 ARHGEF28 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 30322 ARHGEF28 "amyotrophic lateral sclerosis" MONDO:0004976 "ClinGen " 3033 ATN1 NOD MONDO_0007435 "Disgenet " 3033 ATN1 "Epilepsies, Progressive Myoclonic" MONDO_0020074 "Disgenet " 3033 ATN1 "CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES" MONDO_0032781 "Disgenet " 30343 DNAJC13 "Parkinson Disease" MONDO_0014796 "Disgenet " 30348 POLR3B "Charcot Marie Disease" MONDO_0011687 "Disgenet " 30348 POLR3B "LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM" MONDO_0011897 "Disgenet " 30348 POLR3B "4H leukodystrophy" "Disgenet " 30348 POLR3B "Hypogonadotropic hypogonadism" MONDO_0014102 "Disgenet " 30348 POLR3B "Cerebellar hypoplasia with endosteal sclerosis" MONDO_0013722 "Disgenet " 3036 DSC2 Cardiomyopathy MONDO_0004994 "Disgenet " 3036 DSC2 "familial isolated arrhythmogenic right ventricular dysplasia" MONDO:0016342 "ClinGen " 3036 DSC2 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 3036 DSC2 ARVC11 MONDO_0012506 "Disgenet " 3036 DSC2 "Arrhythmogenic right ventricular dysplasia" MONDO_0016587 "Disgenet " 3037 DSC3 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3037 DSC3 "HYPOTRICHOSIS AND RECURRENT SKIN VESICLES" MONDO_0013136 "Disgenet " 30372 KLHL40 "nemaline myopathy 8" MONDO:0014138 "ClinGen " 30372 KLHL40 NEM8 MONDO_0014138 "Disgenet " 30377 SCRIB "Defect, Neural Tube" MONDO_0018075 "Disgenet " 30386 SCAMP5 "Childhood autism" MONDO_0005260 "Disgenet " 3039 DSCAM "Bipolar Disorders" MONDO_0004985 "Disgenet " 3039 DSCAM "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 3039 DSCAM "Disease, Hirschsprung" MONDO_0018309 "Disgenet " 30391 IFT172 "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 30391 IFT172 "Mainzer-Saldino Disease" MONDO_0009964 "Disgenet " 30391 IFT172 "BARDET-BIEDL SYNDROME 20" MONDO_0023670 "Disgenet " 30391 IFT172 "SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY" MONDO_0014284 "Disgenet " 30391 IFT172 ciliopathy MONDO:0005308 "ClinGen " 30391 IFT172 "RETINITIS PIGMENTOSA 71" MONDO_0014618 "Disgenet " 30391 IFT172 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 3040 RCAN1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 3040 RCAN1 "Down Syndrome" MONDO_0008608 "Disgenet " 3040 RCAN1 "Chorea, Huntington" MONDO_0011671 "Disgenet " 3040 RCAN1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3040 RCAN1 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 30417 SH2B1 Obesity MONDO_0019182 "Disgenet " 3046 PIGP "developmental and epileptic encephalopathy, 55" MONDO:0033364 "ClinGen " 3046 PIGP "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 14" MONDO_0033364 "Disgenet " 3049 DSG2 ARVD10 MONDO_0012434 "Disgenet " 3049 DSG2 "arrhythmogenic right ventricular cardiomyopathy" MONDO:0016587 "ClinGen " 3049 DSG2 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 3049 DSG2 "Arrhythmogenic right ventricular dysplasia" MONDO_0016587 "Disgenet " 3049 DSG2 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 3049 DSG2 Cardiomyopathy MONDO_0004994 "Disgenet " 30492 DNAAF3 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 30492 DNAAF3 "primary ciliary dyskinesia 2" MONDO:0011718 "ClinGen " 30492 DNAAF3 "CILIARY DYSKINESIA, PRIMARY, 2" MONDO_0011718 "Disgenet " 30497 KIF7 "ACROCALLOSAL SYNDROME" MONDO_0008708 "Disgenet " 30497 KIF7 "Hydrolethalus syndrome" MONDO_0006037 "Disgenet " 30497 KIF7 CPD4 MONDO_0018772 "Disgenet " 30497 KIF7 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 30500 PRRT2 "CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS" MONDO_0011178 "Disgenet " 30500 PRRT2 DYT10 MONDO_0100352 "Disgenet " 30500 PRRT2 PKC MONDO_0100352 "Disgenet " 30500 PRRT2 "Benign familial neonatal convulsions" MONDO_0016027 "Disgenet " 30500 PRRT2 "Hemiplegic migraine" MONDO_0018925 "Disgenet " 30500 PRRT2 BFIS2 MONDO_0011593 "Disgenet " 30500 PRRT2 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 30500 PRRT2 "infantile convulsions and choreoathetosis" MONDO:0011178 "ClinGen " 30500 PRRT2 "Paroxysmal nonkinesigenic dyskinesia" MONDO_0700088 "Disgenet " 30500 PRRT2 "Paroxysmal dystonia, exercise-induced" MONDO_0012805 "Disgenet " 30511 YIF1B "Kaya-Barakat-Masson syndrome" MONDO:0030878 "ClinGen " 30511 YIF1B "KAYA-BARAKAT-MASSON SYNDROME" MONDO_0030878 "Disgenet " 3052 DSP COPD MONDO_0005002 "Disgenet " 3052 DSP Arrhythmia MONDO_0007263 "Disgenet " 3052 DSP "Fibrosing alveolitis" MONDO_0800029 "Disgenet " 3052 DSP "ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE" MONDO_0014218 "Disgenet " 3052 DSP "Brugada Syndrome" MONDO_0015263 "Disgenet " 3052 DSP "Long QT Syndrome" MONDO_0002442 "Disgenet " 3052 DSP Myocarditides MONDO_0004496 "Disgenet " 3052 DSP "Ventricular arrhythmia" "Disgenet " 3052 DSP CMD1A MONDO_0005021 "Disgenet " 3052 DSP "Familial dilated cardiomyopathy" MONDO_0016333 "Disgenet " 3052 DSP "ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME" MONDO_0011472 "Disgenet " 3052 DSP "CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA" MONDO_0011581 "Disgenet " 3052 DSP "Ventricular tachycardia" MONDO_0013529 "Disgenet " 3052 DSP "Striate palmoplantar keratoderma (disorder)" MONDO_0018865 "Disgenet " 3052 DSP "arrhythmogenic cardiomyopathy with wooly hair and keratoderma" MONDO:0011581 "ClinGen " 3052 DSP "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 3052 DSP "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 3052 DSP "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 3052 DSP "Arrhythmogenic right ventricular dysplasia" MONDO_0016587 "Disgenet " 3052 DSP Cardiomyopathy MONDO_0004994 "Disgenet " 3052 DSP "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8" MONDO_0011831 "Disgenet " 3052 DSP "EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC" MONDO_0012323 "Disgenet " 3052 DSP "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 30521 SLC46A1 "FOLATE MALABSORPTION, HEREDITARY" MONDO_0009238 "Disgenet " 30521 SLC46A1 "Malabsorption syndrome" MONDO_0020598 "Disgenet " 30521 SLC46A1 Pancytopenia MONDO_0001529 "Disgenet " 30528 DNAJC19 DCMA MONDO_0012435 "Disgenet " 30528 DNAJC19 "3-methylglutaconic aciduria" MONDO_0017359 "Disgenet " 30528 DNAJC19 "3-methylglutaconic aciduria type 5" MONDO:0012435 "ClinGen " 30539 DNAAF1 "primary ciliary dyskinesia 13" MONDO:0013174 "ClinGen " 30539 DNAAF1 Heterotaxy MONDO_0018677 "Disgenet " 30539 DNAAF1 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 30539 DNAAF1 CILD13 MONDO_0013174 "Disgenet " 3054 DSPP "dentinogenesis imperfecta" MONDO:0018849 "ClinGen " 3054 DSPP "Dentinogenesis Imperfecta" MONDO_0014560 "Disgenet " 3054 DSPP "Mouth Neoplasm" MONDO_0021245 "Disgenet " 3054 DSPP "DENTIN DYSPLASIA, TYPE II" MONDO_0003542 "Disgenet " 3054 DSPP DGI1 MONDO_0018849 "Disgenet " 3054 DSPP "DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III" MONDO_0007442 "Disgenet " 30546 FDX2 "Mitochondrial Myopathies" MONDO_0009637 "Disgenet " 30551 TXNL4A "BURN-MCKEOWN SYNDROME" MONDO_0012064 "Disgenet " 30551 TXNL4A "choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome" MONDO:0012064 "ClinGen " 30563 PARS2 EIEE75 MONDO_0032752 "Disgenet " 30563 PARS2 "mitochondrial disease" MONDO:0044970 "ClinGen " 3057 DTNA LVNC1 MONDO_0018901 "Disgenet " 3057 DTNA "Left Ventricular Non-Compaction Syndrome" MONDO_0018901 "Disgenet " 3057 DTNA "Left ventricular noncompaction" MONDO_0018901 "Disgenet " 3057 DTNA "congenital heart disease" MONDO:0005453 "ClinGen " 3057 DTNA "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 3057 DTNA "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 3057 DTNA "Disease, Meniere" MONDO_0007972 "Disgenet " 30578 EXPH5 "Epidermolysis Bullosa" MONDO_0006541 "Disgenet " 30578 EXPH5 "Epidermolysis Bullosa Simplex" MONDO_0007550 "Disgenet " 3059 HBEGF "Enterocolitis, Necrotizing" MONDO_0004639 "Disgenet " 3059 HBEGF Glomerulonephritides MONDO_0002462 "Disgenet " 3059 HBEGF "Damage, Reperfusion" MONDO_0005203 "Disgenet " 3059 HBEGF "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 30594 UNC45A "OSTEOOTOHEPATOENTERIC SYNDROME" MONDO_0859164 "Disgenet " 30595 PPP1R21 "neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities" MONDO:0859165 "ClinGen " 30605 SEPSECS PCH2D MONDO_0013438 "Disgenet " 30605 SEPSECS "Pontocerebellar hypoplasia" MONDO_0020135 "Disgenet " 30611 STT3B "Congenital disorder of glycosylation type 1X" MONDO_0014271 "Disgenet " 30620 PDGFD "pulmonary arterial hypertension" MONDO:0015924 "ClinGen " 30620 PDGFD "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 30620 PDGFD CRC MONDO_0005335 "Disgenet " 3064 DUSP1 Depression MONDO_0002050 "Disgenet " 3064 DUSP1 "Cancer, Breast" MONDO_0007254 "Disgenet " 3064 DUSP1 "Depressive neurosis" MONDO_0002050 "Disgenet " 30646 SND1 "Childhood autism" MONDO_0005260 "Disgenet " 30650 STRA6 "Diaphragmatic Hernias" MONDO_0005711 "Disgenet " 30650 STRA6 Microphthalmos MONDO_0021129 "Disgenet " 30650 STRA6 Anophthalmias "Disgenet " 30650 STRA6 PMD MONDO_0011010 "Disgenet " 30650 STRA6 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 30652 STON2 Schizophrenias MONDO_0005090 "Disgenet " 30661 UBA2 ACCES MONDO_0859262 "Disgenet " 30661 UBA2 Ectrodactyly MONDO_0016576 "Disgenet " 30661 UBA2 "Aplasia cutis congenita" MONDO_0019287 "Disgenet " 30661 UBA2 "ACCES syndrome" MONDO:0859262 "ClinGen " 30664 CLPB "Leigh syndrome" MONDO:0009723 "ClinGen " 30664 CLPB "3-methylglutaconic aciduria" MONDO_0017359 "Disgenet " 30664 CLPB "3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA" MONDO_0859237 "Disgenet " 30664 CLPB MEGCANN MONDO_0014561 "Disgenet " 30664 CLPB "Infantile genetic agranulocytosis" MONDO_0018542 "Disgenet " 30664 CLPB Neutropenia MONDO_0001475 "Disgenet " 30664 CLPB "3-methylglutaconic aciduria type 7" MONDO_0014561 "Disgenet " 30668 SRPX2 Epilepsies MONDO_0005027 "Disgenet " 30668 SRPX2 epilepsy MONDO:0005027 "ClinGen " 30672 SYNPO "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 30689 CAND2 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 3069 DUSP3 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 30696 WDR36 Asthma MONDO_0004979 "Disgenet " 30696 WDR36 "Pigmentary glaucoma" MONDO_0005338 "Disgenet " 30696 WDR36 "obsolete glaucoma 1, open angle, G" MONDO:0012357 "ClinGen " 30696 WDR36 "Primary open-angle glaucoma" MONDO_0100553 "Disgenet " 30696 WDR36 Glaucomas MONDO_0005041 "Disgenet " 3070 DUSP4 "Depressive neurosis" MONDO_0002050 "Disgenet " 3070 DUSP4 Depression MONDO_0002050 "Disgenet " 30700 TSHZ3 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 30700 TSHZ3 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 3072 DUSP6 "Syndrome, Kallmann's" MONDO_0013961 "Disgenet " 3072 DUSP6 "Bipolar Disorders" MONDO_0004985 "Disgenet " 3072 DUSP6 Glioblastoma MONDO_0018177 "Disgenet " 3072 DUSP6 HH19 MONDO_0014105 "Disgenet " 3072 DUSP6 "Depressive neurosis" MONDO_0002050 "Disgenet " 30726 CFAP70 "SPERMATOGENIC FAILURE 41" MONDO_0032863 "Disgenet " 30740 TARS2 COXPD21 MONDO_0014398 "Disgenet " 30740 TARS2 "Leigh syndrome" MONDO:0009723 "ClinGen " 30743 TSLP "Glomerulonephritides, Membranoproliferative" MONDO_0018904 "Disgenet " 30743 TSLP "Atopic Eczema" MONDO_0011292 "Disgenet " 30743 TSLP "Eosinophilic esophagitis" MONDO_0005361 "Disgenet " 30743 TSLP Asthma MONDO_0004979 "Disgenet " 30760 TMEM165 CDG2K MONDO_0013870 "Disgenet " 30760 TMEM165 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 30761 TTC21A "SPERMATOGENIC FAILURE 37" MONDO_0032744 "Disgenet " 30764 TRAIP Dwarfism "Disgenet " 30764 TRAIP "Seckel syndrome" MONDO_0019342 "Disgenet " 30764 TRAIP "SECKEL SYNDROME 9" MONDO_0014767 "Disgenet " 30765 TNIK Schizophrenias MONDO_0005090 "Disgenet " 30767 KNSTRN "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 30767 KNSTRN "Squamous cell carcinoma of skin" MONDO_0002529 "Disgenet " 30775 GTF2IRD2 "Syndrome, Williams" MONDO_0008678 "Disgenet " 30778 GATAD2B "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 30778 GATAD2B MRD18 MONDO_0014034 "Disgenet " 30778 GATAD2B "severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome" MONDO:0014034 "ClinGen " 30782 NAA15 MRD50 MONDO_0030916 "Disgenet " 30782 NAA15 "syndromic intellectual disability" MONDO:0000508 "ClinGen " 30782 NAA15 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 30782 NAA15 "Global developmental delay" "Disgenet " 30782 NAA15 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 30782 NAA15 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 30791 UBIAD1 "Schnyder corneal dystrophy" MONDO_0007374 "Disgenet " 30794 CEP57 "MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2" MONDO_0013582 "Disgenet " 30794 CEP57 "mosaic variegated aneuploidy syndrome 2" MONDO:0013582 "ClinGen " 30794 CEP57 "Instability mitotic non disjunction syndrome" MONDO_0000141 "Disgenet " 30794 CEP57 "Warburton Anyane Yeboa syndrome" MONDO_0000141 "Disgenet " 30796 STRAP CRC MONDO_0005335 "Disgenet " 30796 STRAP "CARCINOMA OF LUNG" MONDO_0005138 "Disgenet " 30796 STRAP "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 30800 TMIE Hypoacusis MONDO_0005365 "Disgenet " 30800 TMIE "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 30800 TMIE DFNB6 MONDO_0010965 "Disgenet " 30802 PNPLA2 "neutral lipid storage myopathy" MONDO:0012545 "ClinGen " 30802 PNPLA2 Myopathy MONDO_0003939 "Disgenet " 30802 PNPLA2 "Cardiac Disease" MONDO_0005267 "Disgenet " 30802 PNPLA2 "Ovary Syndrome, Polycystic" MONDO_0008487 "Disgenet " 30802 PNPLA2 "Heart failure" MONDO_0005252 "Disgenet " 30802 PNPLA2 "Congestive heart failure" MONDO_0005252 "Disgenet " 30802 PNPLA2 "NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY" MONDO_0012545 "Disgenet " 30815 NEAT1 "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 30827 FAM107A Gliomas MONDO_0021042 "Disgenet " 30829 TUBB2B PMGYSA MONDO_0012399 "Disgenet " 30829 TUBB2B Lissencephaly MONDO_0018838 "Disgenet " 30829 TUBB2B "Congenital fibrosis of extraocular muscles (CFEOM)" MONDO_0007614 "Disgenet " 30829 TUBB2B "complex cortical dysplasia with other brain malformations" MONDO:0000904 "ClinGen " 30831 TDRD7 "Congenital cataract" MONDO_0008925 "Disgenet " 30832 TRAPPC9 "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" MONDO:0018123 "ClinGen " 30832 TRAPPC9 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 30832 TRAPPC9 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 30836 POC1B "cone-rod dystrophy 20" MONDO:0014427 "ClinGen " 30836 POC1B "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 30836 POC1B "CONE-ROD DYSTROPHY 20" MONDO_0014427 "Disgenet " 3084 DVL1 "Robinow Syndrome" MONDO_0019978 "Disgenet " 3084 DVL1 "Robinow Syndrome, Autosomal Dominant" MONDO_0008389 "Disgenet " 30859 SNRNP200 "RETINITIS PIGMENTOSA 33" MONDO_0012477 "Disgenet " 30859 SNRNP200 "Autosomal dominant retinitis pigmentosa" "Disgenet " 30859 SNRNP200 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 30859 SNRNP200 "SNRNP200-related dominant retinopathy" MONDO:0800098 "ClinGen " 30860 LSM11 "Aicardi-Goutieres syndrome" MONDO_0018866 "Disgenet " 3087 DVL3 "Robinow Syndrome" MONDO_0019978 "Disgenet " 3087 DVL3 "Robinow Syndrome, Autosomal Dominant" MONDO_0008389 "Disgenet " 3087 DVL3 "Cancer, Breast" MONDO_0007254 "Disgenet " 30881 ALG13 "epileptic encephalopathy" "Disgenet " 30881 ALG13 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 30881 ALG13 Epilepsies MONDO_0005027 "Disgenet " 30881 ALG13 "developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 30881 ALG13 CDGIs MONDO_0010472 "Disgenet " 30881 ALG13 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 30881 ALG13 "Infantile spasms" "Disgenet " 30883 TMEM126B "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29" MONDO_0032633 "Disgenet " 30883 TMEM126B "MITOCHONDRIAL COMPLEX I DEFICIENCY" MONDO_0100133 "Disgenet " 30883 TMEM126B "mitochondrial disease" MONDO:0044970 "ClinGen " 30892 HUWE1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 30892 HUWE1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 30892 HUWE1 MRXS-Turner MONDO_0010407 "Disgenet " 30892 HUWE1 "non-syndromic X-linked intellectual disability" MONDO:0019181 "ClinGen " 3091 DYRK1A MRD7 MONDO_0013578 "Disgenet " 3091 DYRK1A "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 3091 DYRK1A "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 3091 DYRK1A "Global developmental delay" "Disgenet " 3091 DYRK1A "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 3091 DYRK1A "Unspecified mental retardation" MONDO_0001071 "Disgenet " 3091 DYRK1A "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 3091 DYRK1A Epilepsies MONDO_0005027 "Disgenet " 30910 VWA1 "Neuromuscular Disease" MONDO_0019056 "Disgenet " 3092 DYRK1B AOMS3 MONDO_0014352 "Disgenet " 3092 DYRK1B "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 30922 LINS1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 30922 LINS1 MRT27 MONDO_0013702 "Disgenet " 30922 LINS1 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 30927 SLC6A20 IMINOGLYCINURIA MONDO_0009448 "Disgenet " 30932 XAF1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 30932 XAF1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 30935 YY1AP1 "Grange Occlusive Arterial Syndrome" MONDO_0011243 "Disgenet " 3097 DYSF "Miyoshi myopathy" MONDO_0009685 "Disgenet " 3097 DYSF LGMD2B MONDO_0009676 "Disgenet " 3097 DYSF "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 3097 DYSF DMAT MONDO_0011721 "Disgenet " 3097 DYSF "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 3097 DYSF MMD1 MONDO_0009685 "Disgenet " 3097 DYSF Myopathy MONDO_0003939 "Disgenet " 3097 DYSF "autosomal recessive limb-girdle muscular dystrophy" MONDO:0015152 "ClinGen " 3097 DYSF "Limb-girdle muscular dystrophy autosomal recessive" MONDO_0015152 "Disgenet " 3097 DYSF Dysferlinopathy MONDO_0016145 "Disgenet " 3098 TOR1A "Dystonia Musculorum Deformans" MONDO_0000476 "Disgenet " 3098 TOR1A Dystonia MONDO_0003441 "Disgenet " 3098 TOR1A AMC5 MONDO_0100218 "Disgenet " 3098 TOR1A "DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT" MONDO_0007492 "Disgenet " 3098 TOR1A EOTD MONDO_0007492 "Disgenet " 30988 BNC2 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 31042 GREB1L "Renal agenesis, bilateral" MONDO_0015986 "Disgenet " 31042 GREB1L "Renal agenesis, unspecified" MONDO_0018470 "Disgenet " 3113 E2F1 "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 3113 E2F1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3113 E2F1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3113 E2F1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 3113 E2F1 Melanoma MONDO_0005105 "Disgenet " 3113 E2F1 "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 3113 E2F1 "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 3113 E2F1 "Pancreatic Infiltrating Duct Carcinoma, NOS" MONDO_0005184 "Disgenet " 3113 E2F1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 3115 E2F3 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 3119 E2F5 "CARCINOMA OF PROSTATE" MONDO_0005159 "Disgenet " 3120 E2F6 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 3120 E2F6 "Triple-Negative Breast Cancers" MONDO_0005494 "Disgenet " 3122 LEFTY2 "congenital heart disease" MONDO:0005453 "ClinGen " 3122 LEFTY2 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 3122 LEFTY2 "heterotaxia syndrome" MONDO_0018677 "Disgenet " 3122 LEFTY2 "congenital heart disorder" MONDO_0005453 "Disgenet " 3123 EBAG9 "Cancer, Breast" MONDO_0007254 "Disgenet " 3133 EBP "MALE EBP DISORDER WITH NEUROLOGIC DEFECTS" MONDO_0010498 "Disgenet " 3133 EBP "Chondrodysplasia Punctata" MONDO_0019701 "Disgenet " 3133 EBP "Conradi Hunermann Syndrome" MONDO_0020603 "Disgenet " 3133 EBP "MEND syndrome" MONDO:0010498 "ClinGen " 31399 SLC6A17 MRT48 MONDO_0014559 "Disgenet " 31406 WDR37 "NEUROOCULOCARDIOGENITOURINARY SYNDROME" MONDO_0032850 "Disgenet " 31406 WDR37 "Developmental delay" "Disgenet " 31406 WDR37 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 31406 WDR37 Coloboma MONDO_0007350 "Disgenet " 31406 WDR37 Epilepsies MONDO_0005027 "Disgenet " 31406 WDR37 "neurooculocardiogenitourinary syndrome" MONDO:0032850 "ClinGen " 3146 ECE1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 3146 ECE1 "Essential hypertension" MONDO_0007781 "Disgenet " 3146 ECE1 "High blood pressure" MONDO_0005044 "Disgenet " 3146 ECE1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 3146 ECE1 "Disease, Hirschsprung" MONDO_0018309 "Disgenet " 3146 ECE1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 3147 ECEL1 Arthrogryposes MONDO_0015168 "Disgenet " 3147 ECEL1 DA5D MONDO_0014028 "Disgenet " 3148 TYMP "MNGIE syndrome (diagnosis)" MONDO_0017575 "Disgenet " 3148 TYMP "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 3148 TYMP "Mitochondrial Encephalomyopathies" MONDO_0004675 "Disgenet " 3148 TYMP "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3148 TYMP MTDPS1 MONDO_0018158 "Disgenet " 3148 TYMP "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 3148 TYMP "mitochondrial disease" MONDO:0044970 "ClinGen " 3148 TYMP Carcinoma MONDO_0004993 "Disgenet " 3148 TYMP "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 3148 TYMP "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 3148 TYMP Epithelioma MONDO_0004993 "Disgenet " 3148 TYMP "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 3148 TYMP "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 3148 TYMP "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 3148 TYMP "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 3148 TYMP "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 315 AFG3L2 "Spastic ataxia" MONDO_0017845 "Disgenet " 315 AFG3L2 "SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE" MONDO_0013776 "Disgenet " 315 AFG3L2 "OPTIC ATROPHY 12" MONDO_0033549 "Disgenet " 315 AFG3L2 "SPINOCEREBELLAR ATAXIA 28" MONDO_0012450 "Disgenet " 315 AFG3L2 "optic atrophy 12" MONDO:0033549 "ClinGen " 315 AFG3L2 "Autosomal dominant cerebellar ataxia" MONDO_0020380 "Disgenet " 315 AFG3L2 "Atrophy, Optic" MONDO_0003608 "Disgenet " 315 AFG3L2 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 315 AFG3L2 "Ataxia, Spinocerebellar" MONDO_0000437 "Disgenet " 3151 ECHS1 "MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY" MONDO_0014563 "Disgenet " 3151 ECHS1 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 3151 ECHS1 "mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency" MONDO:0014563 "ClinGen " 3151 ECHS1 "Leigh syndrome" MONDO:0009723 "ClinGen " 3153 ECM1 "Lipid proteinosis" MONDO_0009530 "Disgenet " 3153 ECM1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3153 ECM1 "Ulcerative colitis" MONDO_0005101 "Disgenet " 3153 ECM1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 3155 ECT2 "Cancer, Breast" MONDO_0007254 "Disgenet " 3155 ECT2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3157 EDA "Christ Siemens Touraine Syndrome" MONDO_0010585 "Disgenet " 3157 EDA Anodontia MONDO_0005486 "Disgenet " 3157 EDA "Ectodermal dysplasia (anhidrotic)" MONDO_0016535 "Disgenet " 3157 EDA "Ectodermal Dysplasias" MONDO_0019287 "Disgenet " 3157 EDA Oligodontia MONDO_0008797 "Disgenet " 3157 EDA Hypodontia MONDO_0008797 "Disgenet " 31601 MIR221 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 31601 MIR221 "Breast Neoplasms" MONDO_0021100 "Disgenet " 31601 MIR221 GIST MONDO_0011719 "Disgenet " 31601 MIR221 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 31601 MIR221 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 31601 MIR221 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 31601 MIR221 "malignant squamous cell neoplasm of oral cavity (diagnosis)" MONDO_0004958 "Disgenet " 3166 LPAR1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3166 LPAR1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3166 LPAR1 Schizophrenias MONDO_0005090 "Disgenet " 3166 LPAR1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 31675 YTHDF2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3169 S1PR2 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 3169 S1PR2 "DEAFNESS, AUTOSOMAL RECESSIVE 68" MONDO_0012485 "Disgenet " 31708 LRP12 OPDM MONDO_0025193 "Disgenet " 31708 LRP12 "oculopharyngodistal myopathy 1" MONDO:0020793 "ClinGen " 31750 SAMD12 "Benign adult familial myoclonic epilepsy (disorder)" MONDO_0019448 "Disgenet " 31750 SAMD12 FAME1 MONDO_0000160 "Disgenet " 3176 EDN1 "Hepatorenal Syndrome" MONDO_0001382 "Disgenet " 3176 EDN1 "Acute Lung Injury" MONDO_0015796 "Disgenet " 3176 EDN1 "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 3176 EDN1 "Auriculo-condylar syndrome" MONDO_0000107 "Disgenet " 3176 EDN1 "Bronchiolitis Obliterans" MONDO_0015265 "Disgenet " 3176 EDN1 "Abnormalities, Craniofacial" "Disgenet " 3176 EDN1 "Acute kidney injury" MONDO_0002492 "Disgenet " 3176 EDN1 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 3176 EDN1 "Hypertrophy, Left Ventricular" "Disgenet " 3176 EDN1 "Respiratory Distress Syndrome, Adult" MONDO_0100130 "Disgenet " 3176 EDN1 Nephroses MONDO_0002331 "Disgenet " 3176 EDN1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 3176 EDN1 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 3176 EDN1 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 3176 EDN1 Obesity MONDO_0019182 "Disgenet " 3176 EDN1 "Congestive heart failure" MONDO_0005252 "Disgenet " 3176 EDN1 Asthma MONDO_0004979 "Disgenet " 3176 EDN1 "Obstructive sleep apnea syndrome" MONDO_0007147 "Disgenet " 3176 EDN1 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 3176 EDN1 "High blood pressure" MONDO_0005044 "Disgenet " 3176 EDN1 "Heart failure" MONDO_0005252 "Disgenet " 3176 EDN1 "Cerebrovascular Disorders" MONDO_0011057 "Disgenet " 3176 EDN1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 3176 EDN1 Arrhythmia MONDO_0007263 "Disgenet " 3176 EDN1 "KIDNEY FAILURE" MONDO_0001106 "Disgenet " 3176 EDN1 "Cardiovascular Disease" MONDO_0004995 "Disgenet " 3176 EDN1 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 3176 EDN1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 3176 EDN1 Nephropathy MONDO_0005240 "Disgenet " 3176 EDN1 "Hemorrhages, Subarachnoid" MONDO_0005099 "Disgenet " 3176 EDN1 COPD MONDO_0005002 "Disgenet " 3176 EDN1 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 3176 EDN1 "Cerebrovascular accident" MONDO_0005098 "Disgenet " 3176 EDN1 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 3176 EDN1 "Coronary Disease" MONDO_0005010 "Disgenet " 3176 EDN1 Hypercholesteremias "Disgenet " 3176 EDN1 Cardiomyopathy MONDO_0004994 "Disgenet " 3176 EDN1 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 3176 EDN1 "Dysfunction, Erectile" MONDO_0005362 "Disgenet " 3177 EDN2 "High blood pressure" MONDO_0005044 "Disgenet " 3178 EDN3 "Congenital central hypoventilation syndrome" MONDO_0800026 "Disgenet " 3178 EDN3 WS4B MONDO_0013201 "Disgenet " 3178 EDN3 "Disease, Hirschsprung" MONDO_0018309 "Disgenet " 3178 EDN3 "Syndrome, Waardenburg's" MONDO_0018094 "Disgenet " 3178 EDN3 WS4A MONDO_0010192 "Disgenet " 3178 EDN3 "Waardenburg syndrome type 4B" MONDO:0013201 "ClinGen " 3178 EDN3 "Waardenburg syndrome type 4B" MONDO:0013201 "ClinGen " 318 AGA Aspartylglucosaminuria MONDO_0008830 "Disgenet " 318 AGA Schizophrenias MONDO_0005090 "Disgenet " 318 AGA aspartylglucosaminuria MONDO:0008830 "ClinGen " 318 AGA "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 318 AGA "Disease, Lysosomal Storage" MONDO_0002561 "Disgenet " 3180 EDNRB "Waardenburg syndrome type 4A" MONDO:0010192 "ClinGen " 3180 EDNRB "Waardenburg syndrome type 4A" MONDO:0010192 "ClinGen " 3180 EDNRB "ABCD SYNDROME" MONDO_0010895 "Disgenet " 3180 EDNRB "Waardenburg Syndrome Type II" MONDO_0019517 "Disgenet " 3180 EDNRB WS4A MONDO_0010192 "Disgenet " 3180 EDNRB "Disease, Hirschsprung" MONDO_0018309 "Disgenet " 3180 EDNRB Hypoacusis MONDO_0005365 "Disgenet " 3180 EDNRB "Breast Neoplasms" MONDO_0021100 "Disgenet " 3180 EDNRB WS1 MONDO_0008670 "Disgenet " 3180 EDNRB "Syndrome, Waardenburg's" MONDO_0018094 "Disgenet " 3182 PHC1 "MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE" MONDO_0014173 "Disgenet " 31830 MICU2 "mitochondrial disease" MONDO:0044970 "ClinGen " 3188 EED "Cohen-Gibson syndrome" MONDO:0060510 "ClinGen " 3188 EED "COHEN-GIBSON SYNDROME" MONDO_0060510 "Disgenet " 319 ACAN "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE" MONDO_0013014 "Disgenet " 319 ACAN OD MONDO_0100462 "Disgenet " 319 ACAN "Dissecans, Osteochondritis" MONDO_0017178 "Disgenet " 319 ACAN "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 319 ACAN "SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE" MONDO_0012019 "Disgenet " 3192 EEF1A2 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 3192 EEF1A2 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 3192 EEF1A2 Epilepsies MONDO_0005027 "Disgenet " 3192 EEF1A2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 3192 EEF1A2 PRELDS MONDO_0014617 "Disgenet " 3192 EEF1A2 "Global developmental delay" "Disgenet " 3192 EEF1A2 "Childhood autism" MONDO_0005260 "Disgenet " 3192 EEF1A2 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 3192 EEF1A2 EIEE33 MONDO_0014625 "Disgenet " 3192 EEF1A2 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 3192 EEF1A2 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 31923 LCA5 "LCA5-related retinopathy" MONDO:0100445 "ClinGen " 31923 LCA5 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 31923 LCA5 LCA5 MONDO_0011473 "Disgenet " 31923 LCA5 "Leber congenital amaurosis" MONDO_0018998 "Disgenet " 31928 NBEAL2 "gray platelet syndrome" MONDO:0007686 "ClinGen " 31928 NBEAL2 GPS MONDO_0008553 "Disgenet " 320 AGER "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 320 AGER "Alzheimer Disease" MONDO_0012630 "Disgenet " 320 AGER "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 320 AGER "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 320 AGER "Cystic Fibrosis" MONDO_0009061 "Disgenet " 320 AGER "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 320 AGER Schizophrenias MONDO_0005090 "Disgenet " 320 AGER "Acute kidney injury" MONDO_0002492 "Disgenet " 320 AGER "Glomerulonephritides, Lupus" MONDO_0005556 "Disgenet " 320 AGER "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 320 AGER Atherosclerosis MONDO_0005311 "Disgenet " 320 AGER "Cardiovascular Disease" MONDO_0004995 "Disgenet " 320 AGER "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 320 AGER "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 320 AGER Asthma MONDO_0004979 "Disgenet " 320 AGER "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 320 AGER Hyperglycemia MONDO_0002909 "Disgenet " 320 AGER "Angiopathies, Diabetic" MONDO_0000960 "Disgenet " 320 AGER "Multiple Sclerosis" MONDO_0005301 "Disgenet " 320 AGER "Coronary Disease" MONDO_0005010 "Disgenet " 320 AGER Melanoma MONDO_0005105 "Disgenet " 320 AGER Psoriases MONDO_0005083 "Disgenet " 320 AGER "Mild cognitive disorder" "Disgenet " 320 AGER "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 320 AGER "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 320 AGER "High blood pressure" MONDO_0005044 "Disgenet " 320 AGER "Lewy Body Disease" MONDO_0007488 "Disgenet " 3208 EEF1B2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 321 AGL "Forbes' disease" MONDO_0009291 "Disgenet " 321 AGL "glycogen storage disease III" MONDO:0009291 "ClinGen " 321 AGL "GSD IIIa" "Disgenet " 321 AGL "GLYCOGEN STORAGE DISEASE IIIb" "Disgenet " 321 AGL "Diseases, Glycogen Storage" MONDO_0010362 "Disgenet " 3211 EEF1D "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 3214 EEF2 SCA26 MONDO_0012246 "Disgenet " 3218 EFEMP1 MLVT MONDO_0007471 "Disgenet " 3218 EFEMP1 Scolioses MONDO_0005392 "Disgenet " 3218 EFEMP1 "Hernia, Inguinal" "Disgenet " 3218 EFEMP1 "Retinal dystrophy" MONDO_0019118 "Disgenet " 3218 EFEMP1 "Macular dystrophy" "Disgenet " 3218 EFEMP1 "open-angle glaucoma" MONDO:0005338 "ClinGen " 3218 EFEMP1 "Doyne honeycomb retinal dystrophy" MONDO:0007471 "ClinGen " 3218 EFEMP1 "Mesothelioma, malignant" MONDO_0006292 "Disgenet " 3218 EFEMP1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 3218 EFEMP1 Carcinoma MONDO_0004993 "Disgenet " 3218 EFEMP1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3218 EFEMP1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3218 EFEMP1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 3218 EFEMP1 DHD MONDO_0007471 "Disgenet " 3219 EFEMP2 "Cutis Laxa" MONDO_0007411 "Disgenet " 3219 EFEMP2 "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 3219 EFEMP2 ARCL1B MONDO_0013754 "Disgenet " 3219 EFEMP2 "Aneurysms, Aortic" MONDO_0005160 "Disgenet " 3219 EFEMP2 "ARTERIAL TORTUOSITY SYNDROME" MONDO_0008818 "Disgenet " 3219 EFEMP2 "cutis laxa, autosomal recessive, type 1B" MONDO:0013754 "ClinGen " 3221 EFNA1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3226 EFNB1 CFNS MONDO_0010570 "Disgenet " 3226 EFNB1 Obesity MONDO_0019182 "Disgenet " 3226 EFNB1 "frontonasal dysplasia (diagnosis)" MONDO_0016643 "Disgenet " 3226 EFNB1 "craniofrontonasal syndrome" MONDO:0010570 "ClinGen " 3226 EFNB1 Craniosynostosis MONDO_0015469 "Disgenet " 3227 EFNB2 CRC MONDO_0005335 "Disgenet " 3227 EFNB2 "Lung Neoplasm" MONDO_0002732 "Disgenet " 3227 EFNB2 "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 3227 EFNB2 Schizophrenias MONDO_0005090 "Disgenet " 3227 EFNB2 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 3229 EGF "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 3229 EGF Gliomas MONDO_0021042 "Disgenet " 3229 EGF "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3229 EGF Glioblastoma MONDO_0018177 "Disgenet " 3229 EGF "Breast Neoplasms" MONDO_0021100 "Disgenet " 3229 EGF "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3229 EGF "Glioma, malignant" MONDO_0100342 "Disgenet " 3229 EGF "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 3229 EGF "Primary Glioblastoma" MONDO_0018177 "Disgenet " 3229 EGF "Cleft Palate" MONDO_0016064 "Disgenet " 3229 EGF "Zollinger Ellison Syndrome" MONDO_0019610 "Disgenet " 3229 EGF "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 3229 EGF "Malignant neoplasm of gallbladder" MONDO_0005411 "Disgenet " 3229 EGF Alcoholism MONDO_0002046 "Disgenet " 3229 EGF "Gallbladder Neoplasm" MONDO_0005411 "Disgenet " 3229 EGF "Gastric ulcer" MONDO_0001126 "Disgenet " 3229 EGF Endometrium MONDO_0011962 "Disgenet " 3229 EGF "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 3229 EGF "HYPOMAGNESEMIA 4, RENAL" MONDO_0012717 "Disgenet " 3229 EGF Adenocarcinoma MONDO_0004970 "Disgenet " 3229 EGF Nephropathy MONDO_0005240 "Disgenet " 3229 EGF "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 3229 EGF "Depressions, Unipolar" MONDO_0002050 "Disgenet " 3229 EGF "Childhood autism" MONDO_0005260 "Disgenet " 3230 CELSR3 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3230 CELSR3 "Gilles de la Tourette's syndrome" MONDO_0007661 "Disgenet " 3231 CELSR2 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 3231 CELSR2 "Coronary Disease" MONDO_0005010 "Disgenet " 3231 CELSR2 "Idiopathic scoliosis" MONDO_0000726 "Disgenet " 3233 MEGF8 "carpenters syndrome" MONDO_0019012 "Disgenet " 3233 MEGF8 "CARPENTER SYNDROME 2" MONDO_0013998 "Disgenet " 3233 MEGF8 "MEGF8-related Carpenter syndrome" MONDO:0013998 "ClinGen " 3236 EGFR "Bile Duct Neoplasm" MONDO_0003059 "Disgenet " 3236 EGFR "Oral Cancer" MONDO_0023644 "Disgenet " 3236 EGFR "Gallbladder Neoplasm" MONDO_0005411 "Disgenet " 3236 EGFR "Mesothelioma, malignant" MONDO_0006292 "Disgenet " 3236 EGFR "Primary Glioblastoma" MONDO_0018177 "Disgenet " 3236 EGFR "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 3236 EGFR "Cancer, Squamous Cell" MONDO_0002532 "Disgenet " 3236 EGFR Dermatitides MONDO_0002406 "Disgenet " 3236 EGFR "Nasopharyngeal Neoplasm" MONDO_0005375 "Disgenet " 3236 EGFR "Head and Neck Neoplasms" MONDO_0005586 "Disgenet " 3236 EGFR "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 3236 EGFR "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3236 EGFR "Lung Neoplasm" MONDO_0002732 "Disgenet " 3236 EGFR "Breast Neoplasms" MONDO_0021100 "Disgenet " 3236 EGFR "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 3236 EGFR "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 3236 EGFR "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 3236 EGFR Adenocarcinoma MONDO_0004970 "Disgenet " 3236 EGFR "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 3236 EGFR "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 3236 EGFR "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3236 EGFR Glioblastoma MONDO_0018177 "Disgenet " 3236 EGFR "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3236 EGFR "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 3236 EGFR "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 3236 EGFR "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 3236 EGFR "Cervical Neoplasm" MONDO_0021230 "Disgenet " 3236 EGFR "Bronchiolo-alveolar adenocarcinoma" MONDO_0004991 "Disgenet " 3236 EGFR "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 3236 EGFR "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 3236 EGFR "Abuse, Alcohol" MONDO_0002046 "Disgenet " 3236 EGFR "glioma of brain stem (diagnosis)" MONDO_0002911 "Disgenet " 3236 EGFR "Familial Malignant Neoplasm" "Disgenet " 3236 EGFR "glioblastoma multiforme adult" MONDO_0020690 "Disgenet " 3236 EGFR "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 3236 EGFR "Depressions, Unipolar" MONDO_0002050 "Disgenet " 3236 EGFR "Tuberculosis, Pulmonary" MONDO_0957462 "Disgenet " 3236 EGFR "Acute kidney injury" MONDO_0002492 "Disgenet " 3236 EGFR Endometrioses MONDO_0005133 "Disgenet " 3236 EGFR "Adrenal cortical carcinoma" MONDO_0006639 "Disgenet " 3236 EGFR "Fibroid Tumor" MONDO_0001572 "Disgenet " 3236 EGFR "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 3236 EGFR "Polycystic Kidney, Autosomal Recessive" MONDO_0009889 "Disgenet " 3236 EGFR "Adenomatous Polyposis Coli" MONDO_0021056 "Disgenet " 3236 EGFR "Brain Neoplasms" MONDO_0021211 "Disgenet " 3236 EGFR "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 3236 EGFR "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 3236 EGFR Mesothelioma MONDO_0005065 "Disgenet " 3236 EGFR "Neoplasm, Rectal" MONDO_0002165 "Disgenet " 3236 EGFR Cholangiocarcinoma MONDO_0019087 "Disgenet " 3236 EGFR "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 3236 EGFR "non-small cell lung carcinoma" MONDO:0005233 "ClinGen " 3236 EGFR Gliosarcoma MONDO_0016681 "Disgenet " 3236 EGFR "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 3236 EGFR "CARCINOMA OF LUNG" MONDO_0005138 "Disgenet " 3236 EGFR "Cancer, Lung" MONDO_0008903 "Disgenet " 3236 EGFR Carcinoma MONDO_0004993 "Disgenet " 3236 EGFR "Cancer, Ovarian" MONDO_0008170 "Disgenet " 3236 EGFR Papilloma MONDO_0002363 "Disgenet " 3236 EGFR Epithelioma MONDO_0004993 "Disgenet " 3236 EGFR "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 3236 EGFR "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 3236 EGFR "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 3236 EGFR "CARCINOMA OF ESOPHAGUS" MONDO_0007576 "Disgenet " 3238 EGR1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3238 EGR1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 3238 EGR1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3238 EGR1 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 3238 EGR1 Asthma MONDO_0004979 "Disgenet " 3239 EGR2 "HYPOMYELINATION, SEVERE CONGENITAL" MONDO_0011527 "Disgenet " 3239 EGR2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3239 EGR2 CMT4E MONDO_0011527 "Disgenet " 3239 EGR2 Schizophrenias MONDO_0005090 "Disgenet " 3239 EGR2 "HMSN I" MONDO_0019011 "Disgenet " 3239 EGR2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 3239 EGR2 "Ewing's sarcoma" MONDO_0012817 "Disgenet " 3239 EGR2 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 3239 EGR2 "Dejerine Sottas Disease" MONDO_0011687 "Disgenet " 3239 EGR2 "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D" MONDO_0011890 "Disgenet " 3239 EGR2 "Charcot-Marie-Tooth disease" MONDO:0015626 "ClinGen " 32395 DGKK Hypospadia MONDO_0005345 "Disgenet " 324 AGPAT1 "Exfoliation Syndrome" MONDO_0100046 "Disgenet " 3240 EGR3 "Bipolar Disorders" MONDO_0004985 "Disgenet " 3240 EGR3 Depression MONDO_0002050 "Disgenet " 3240 EGR3 "Depressive neurosis" MONDO_0002050 "Disgenet " 3240 EGR3 Schizophrenias MONDO_0005090 "Disgenet " 3241 EGR4 Schizophrenias MONDO_0005090 "Disgenet " 3244 EHD3 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 3244 EHD3 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 32456 ALG11 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip" MONDO_0013349 "Disgenet " 32456 ALG11 "ALG11-congenital disorder of glycosylation" MONDO:0013349 "ClinGen " 32456 ALG11 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 3246 EHF "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3247 EHHADH "FANCONI RENOTUBULAR SYNDROME 3" MONDO_0014275 "Disgenet " 3247 EHHADH "deToni Fanconi syndrome" MONDO_0001083 "Disgenet " 3247 EHHADH "Renal tubular Fanconi syndrome" MONDO_0060778 "Disgenet " 3247 EHHADH "Fanconi renotubular syndrome 3" MONDO:0014275 "ClinGen " 325 AGPAT2 lipodystrophy MONDO:0006573 "ClinGen " 325 AGPAT2 Lipodystrophies MONDO_0006573 "Disgenet " 325 AGPAT2 "Familial generalized lipodystrophy" MONDO_0006536 "Disgenet " 325 AGPAT2 "Berardinelli Seip Congenital Lipodystrophy, Type 1" MONDO_0006536 "Disgenet " 3250 EIF1AX "MELANOMA, UVEAL" MONDO_0006486 "Disgenet " 3250 EIF1AX "Well Differentiated Thyroid Carcinoma" MONDO_0015447 "Disgenet " 32528 PRCD RP36 MONDO_0012523 "Disgenet " 32528 PRCD "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 3255 EIF2AK3 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 3255 EIF2AK3 "Progressive supranuclear palsy" MONDO_0019037 "Disgenet " 3255 EIF2AK3 "EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS" MONDO_0009192 "Disgenet " 3255 EIF2AK3 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 32550 ZBTB42 "LETHAL CONGENITAL CONTRACTURE SYNDROME 6" MONDO_0014549 "Disgenet " 3257 EIF2B1 CACH MONDO_0020507 "Disgenet " 3257 EIF2B1 "Vanishing white matter disease (disorder)" MONDO_0800448 "Disgenet " 3257 EIF2B1 "leukoencephalopathy with vanishing white matter 1" MONDO:0020507 "ClinGen " 3258 EIF2B2 "leukoencephalopathy with vanishing white matter 2" MONDO:0957870 "ClinGen " 3258 EIF2B2 "Vanishing white matter disease (disorder)" MONDO_0800448 "Disgenet " 3258 EIF2B2 "LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2" MONDO_0957870 "Disgenet " 3258 EIF2B2 "Menopause, Premature" MONDO_0001119 "Disgenet " 3258 EIF2B2 OVARIOLEUKODYSTROPHY "Disgenet " 3259 EIF2B3 "leukoencephalopathy with vanishing white matter 3" MONDO:0957871 "ClinGen " 3259 EIF2B3 "Vanishing white matter disease (disorder)" MONDO_0800448 "Disgenet " 3259 EIF2B3 VWM3 MONDO_0957871 "Disgenet " 3259 EIF2B3 OVARIOLEUKODYSTROPHY "Disgenet " 3261 EIF2B5 "leukoencephalopathy with vanishing white matter 5" MONDO:0957873 "ClinGen " 3261 EIF2B5 "Congenital or early infantile CACH syndrome" MONDO_0015519 "Disgenet " 3261 EIF2B5 "Late infantile CACH syndrome" MONDO_0015520 "Disgenet " 3261 EIF2B5 "Juvenile or adult CACH syndrome" MONDO_0015521 "Disgenet " 3261 EIF2B5 CACH MONDO_0020507 "Disgenet " 3261 EIF2B5 OVARIOLEUKODYSTROPHY "Disgenet " 3261 EIF2B5 Leukoencephalopathy "Disgenet " 3261 EIF2B5 Leukodystrophy MONDO_0019046 "Disgenet " 3261 EIF2B5 "Cree Leukoencephalopathies" MONDO_0957873 "Disgenet " 3261 EIF2B5 "Vanishing white matter disease (disorder)" MONDO_0800448 "Disgenet " 3262 AGO1 Alcoholism MONDO_0002046 "Disgenet " 3262 AGO1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 3262 AGO1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 3263 AGO2 LESKRES MONDO_0030897 "Disgenet " 3263 AGO2 Alcoholism MONDO_0002046 "Disgenet " 3263 AGO2 "Lessel-Kreienkamp syndrome" MONDO:0030897 "ClinGen " 3265 EIF2S1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 3265 EIF2S1 Schizophrenias MONDO_0005090 "Disgenet " 3267 EIF2S3 "MEHMO syndrome" MONDO:0010258 "ClinGen " 3267 EIF2S3 MEHMO MONDO_0010258 "Disgenet " 327 AGPS "RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3" MONDO_0010823 "Disgenet " 327 AGPS "Chondrodysplasia Punctata, Rhizomelic" MONDO_0015776 "Disgenet " 327 AGPS "alkylglycerone-phosphate synthase deficiency" MONDO:0100274 "ClinGen " 3273 EIF3H "Cancer, Breast" MONDO_0007254 "Disgenet " 3273 EIF3H "CARCINOMA OF PROSTATE" MONDO_0005159 "Disgenet " 3273 EIF3H "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 3273 EIF3H "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3273 EIF3H "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3273 EIF3H "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3275 EIF3F "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 3275 EIF3F "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67" MONDO_0032662 "Disgenet " 3275 EIF3F "syndromic intellectual disability" MONDO:0000508 "ClinGen " 328 AGR2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 328 AGR2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3284 EIF4A2 "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES" MONDO_0957541 "Disgenet " 3284 EIF4A2 "Cancer, Breast" MONDO_0007254 "Disgenet " 3287 EIF4E "Centrocytic Small-Cell Lymphoma" MONDO_0018876 "Disgenet " 3287 EIF4E "Childhood autism" MONDO_0005260 "Disgenet " 3288 EIF4EBP1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 3288 EIF4EBP1 "Kidney Neoplasm" MONDO_0002367 "Disgenet " 329 AGRN CMSPPD MONDO_0014052 "Disgenet " 329 AGRN "CONGEN MYASTHENIA GRAVIS" MONDO_0018940 "Disgenet " 33 ABCA3 "Cancer, Breast" MONDO_0007254 "Disgenet " 33 ABCA3 "Interstitial lung disease" MONDO_0015925 "Disgenet " 33 ABCA3 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 33 ABCA3 "Diseases, Lung" MONDO_0005275 "Disgenet " 33 ABCA3 "Respiratory Failure" MONDO_0021113 "Disgenet " 33 ABCA3 "interstitial lung disease due to ABCA3 deficiency" MONDO:0012582 "ClinGen " 33 ABCA3 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 33 ABCA3 "Pulmonary Alveolar Proteinosis" MONDO_0001437 "Disgenet " 3309 ELANE neutropenia MONDO:0001475 "ClinGen " 3309 ELANE Periodontitides MONDO_0005593 "Disgenet " 3309 ELANE "Cyclic neutropenia" MONDO_0008090 "Disgenet " 3309 ELANE SCN1 MONDO_0018542 "Disgenet " 3309 ELANE "Infantile genetic agranulocytosis" MONDO_0018542 "Disgenet " 3309 ELANE Neutropenia MONDO_0001475 "Disgenet " 3312 ELAVL1 Endometrioses MONDO_0005133 "Disgenet " 3319 ELF4 "autoinflammatory syndrome, familial, X-linked, Behcet-like 2" MONDO:0024770 "ClinGen " 3319 ELF4 "DEFICIENCY IN ELF4, X-LINKED" MONDO_0024770 "Disgenet " 3325 ELK3 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3327 ELN "Hernia, Inguinal" "Disgenet " 3327 ELN "EMD - Exudative macular degeneration" MONDO_0005417 "Disgenet " 3327 ELN "Arteritides, Giant Cell" MONDO_0008538 "Disgenet " 3327 ELN "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 3327 ELN "Varicose Veins" MONDO_0008638 "Disgenet " 3327 ELN "Aortic Aneurysm, Abdominal" MONDO_0005350 "Disgenet " 3327 ELN "Cutis Laxa, Autosomal Dominant" MONDO_0019571 "Disgenet " 3327 ELN "High blood pressure" MONDO_0005044 "Disgenet " 3327 ELN "cutis laxa, autosomal dominant 1" MONDO:0007411 "ClinGen " 3327 ELN "Diaphragmatic Hernias" MONDO_0005711 "Disgenet " 3327 ELN "Pseudoxanthoma Elasticum" MONDO_0009925 "Disgenet " 3327 ELN COPD MONDO_0005002 "Disgenet " 3327 ELN "Cutis Laxa" MONDO_0007411 "Disgenet " 3327 ELN "Aortic Stenosis, Supravalvular" MONDO_0008504 "Disgenet " 3327 ELN "Syndrome, Williams" MONDO_0008678 "Disgenet " 3327 ELN "Aneurysms, Aortic" MONDO_0005160 "Disgenet " 333 AGT "High blood pressure" MONDO_0005044 "Disgenet " 333 AGT "Essential hypertension" MONDO_0007781 "Disgenet " 333 AGT "Heart failure" MONDO_0005252 "Disgenet " 333 AGT Nephropathy MONDO_0005240 "Disgenet " 333 AGT "Cardiovascular Disease" MONDO_0004995 "Disgenet " 333 AGT "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 333 AGT "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 333 AGT "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 333 AGT "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 333 AGT "RENAL TUBULAR DYSGENESIS" MONDO_0017609 "Disgenet " 333 AGT "Atrial Fibrillation" MONDO_0004981 "Disgenet " 333 AGT Atherosclerosis MONDO_0005311 "Disgenet " 333 AGT "Congestive heart failure" MONDO_0005252 "Disgenet " 333 AGT "Aortic Aneurysm, Abdominal" MONDO_0005350 "Disgenet " 333 AGT Obesity MONDO_0019182 "Disgenet " 333 AGT Depression MONDO_0002050 "Disgenet " 333 AGT "Bergers Disease" MONDO_0005342 "Disgenet " 333 AGT "Diseases, Vascular" MONDO_0005385 "Disgenet " 333 AGT "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 333 AGT "Cancer, Breast" MONDO_0007254 "Disgenet " 333 AGT Cardiomyopathy MONDO_0004994 "Disgenet " 333 AGT "Cardiac Disease" MONDO_0005267 "Disgenet " 333 AGT "Depressive neurosis" MONDO_0002050 "Disgenet " 333 AGT Glomerulonephritides MONDO_0002462 "Disgenet " 333 AGT Hyperinsulinism MONDO_0002177 "Disgenet " 333 AGT "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 333 AGT Hydronephroses MONDO_0005510 "Disgenet " 333 AGT "Glucose Intolerance" MONDO_0001076 "Disgenet " 333 AGT "Anderson Fabry Disease" MONDO_0010526 "Disgenet " 333 AGT "Cardiovascular Abnormalities" "Disgenet " 333 AGT "Bipolar Disorders" MONDO_0004985 "Disgenet " 333 AGT "Click-Murmur Syndrome, Mitral" MONDO_0004910 "Disgenet " 333 AGT "Cardiomyopathy, Alcoholic" MONDO_0006643 "Disgenet " 333 AGT "Fibroplasias, Retrolental" MONDO_0006952 "Disgenet " 333 AGT "Purpura, Schoenlein Henoch" MONDO_0019167 "Disgenet " 333 AGT hyperhomocysteinemia MONDO_0004743 "Disgenet " 333 AGT "Diabetic cardiomyopathy" "Disgenet " 333 AGT "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 333 AGT "cardiac toxicity" "Disgenet " 333 AGT "Hypertension, Malignant" MONDO_0006846 "Disgenet " 333 AGT "Cerebrovascular Disorders" MONDO_0011057 "Disgenet " 333 AGT "Damage, Reperfusion" MONDO_0005203 "Disgenet " 333 AGT "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 333 AGT Arrhythmia MONDO_0007263 "Disgenet " 333 AGT "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 333 AGT "KIDNEY FAILURE" MONDO_0001106 "Disgenet " 333 AGT "Dissection of aorta" "Disgenet " 333 AGT "Aneurysms, Aortic" MONDO_0005160 "Disgenet " 333 AGT "Hypertension, Renal" MONDO_0001105 "Disgenet " 333 AGT "Hypertrophy, Left Ventricular" "Disgenet " 333 AGT Anemia MONDO_0002280 "Disgenet " 333 AGT "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 333 AGT Pneumonia MONDO_0005249 "Disgenet " 3330 EML1 "DC SYNDROME" MONDO_0020491 "Disgenet " 3330 EML1 "band heterotopia of brain" MONDO:0010873 "ClinGen " 3331 EMD Myopathy MONDO_0003939 "Disgenet " 3331 EMD "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 3331 EMD "Neuromuscular Disease" MONDO_0019056 "Disgenet " 3331 EMD Cardiomyopathy MONDO_0004994 "Disgenet " 3331 EMD EDMD1 MONDO_0100531 "Disgenet " 3331 EMD "Emery-Dreifuss muscular dystrophy" MONDO_0016830 "Disgenet " 3331 EMD "X-Linked Emery-Dreifuss Muscular Dystrophy" MONDO_0010680 "Disgenet " 3332 MARK2 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 3332 MARK2 Anxiety MONDO_0001942 "Disgenet " 3332 MARK2 Schizophrenias MONDO_0005090 "Disgenet " 3333 EMP1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3337 ADGRE2 "Vibratory urticaria" MONDO_0006618 "Disgenet " 3338 CTTN "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 3341 EMX2 schizencephaly MONDO:0010011 "ClinGen " 3341 EMX2 SCHIZENCEPHALY MONDO_0010011 "Disgenet " 3341 EMX2 "Lung Neoplasm" MONDO_0002732 "Disgenet " 3341 EMX2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3341 EMX2 Schizophrenias MONDO_0005090 "Disgenet " 3349 ENG "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 3349 ENG HHT1 MONDO_0008535 "Disgenet " 3349 ENG "Pulmonary arterial hypertension" MONDO_0015924 "Disgenet " 3349 ENG "Cystic Fibrosis" MONDO_0009061 "Disgenet " 3349 ENG "Hereditary hemorrhagic telangiectasia" MONDO_0019180 "Disgenet " 3349 ENG "juvenile polyposis syndrome" MONDO:0017380 "ClinGen " 3349 ENG "telangiectasia, hereditary hemorrhagic, type 1" MONDO:0008535 "ClinGen " 3349 ENG "Arteriovenous Malformation, Cerebral" MONDO_0007154 "Disgenet " 3349 ENG JPS MONDO_0017380 "Disgenet " 3349 ENG "Aneurysms, Intracranial" MONDO_0005291 "Disgenet " 3349 ENG "Pulmonary arteriovenous malformation (PAVM), especially lower lobes" "Disgenet " 3349 ENG "Cancer, Breast" MONDO_0007254 "Disgenet " 3349 ENG "Racemose haemangioma" MONDO_0001256 "Disgenet " 33499 ATRIP "hereditary breast carcinoma" MONDO:0016419 "ClinGen " 33499 ATRIP "Seckel syndrome" MONDO_0019342 "Disgenet " 3350 ENO1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3350 ENO1 Carcinoma MONDO_0004993 "Disgenet " 3350 ENO1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 3350 ENO1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 3350 ENO1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 3350 ENO1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 3350 ENO1 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 3350 ENO1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3350 ENO1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 3353 ENO2 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 3353 ENO2 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 3353 ENO2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3353 ENO2 "Parkinson Disease" MONDO_0014796 "Disgenet " 3353 ENO2 Schizophrenias MONDO_0005090 "Disgenet " 3353 ENO2 "Lewy Body Disease" MONDO_0007488 "Disgenet " 33551 NDUFAF8 "Leigh syndrome" MONDO:0009723 "ClinGen " 33551 NDUFAF8 MC1DN34 MONDO_0032910 "Disgenet " 3356 ENPP1 "ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1" MONDO_0008817 "Disgenet " 3356 ENPP1 "Hypophosphatemic Rickets" MONDO_0000044 "Disgenet " 3356 ENPP1 "Pseudoxanthoma Elasticum" MONDO_0009925 "Disgenet " 3356 ENPP1 "OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE" MONDO_0011230 "Disgenet " 3356 ENPP1 Obesity MONDO_0019182 "Disgenet " 3356 ENPP1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 3356 ENPP1 "Cardiovascular Disease" MONDO_0004995 "Disgenet " 3356 ENPP1 "HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2" MONDO_0013219 "Disgenet " 3356 ENPP1 ARHP MONDO_0009430 "Disgenet " 3356 ENPP1 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 3356 ENPP1 COLED MONDO_0014227 "Disgenet " 3356 ENPP1 IIAC MONDO_0018870 "Disgenet " 3356 ENPP1 "arterial calcification, generalized, of infancy, 1" MONDO:0008817 "ClinGen " 3356 ENPP1 "hypopigmentation-punctate palmoplantar keratoderma syndrome" MONDO:0014227 "ClinGen " 3357 ENPP2 "Neoplasm, Thyroid" MONDO_0015074 "Disgenet " 336 AGTR1 "Patent ductus arteriosus" MONDO_0011827 "Disgenet " 336 AGTR1 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 336 AGTR1 "Disease, Schaumann" MONDO_0008399 "Disgenet " 336 AGTR1 "Coronary Disease" MONDO_0005010 "Disgenet " 336 AGTR1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 336 AGTR1 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 336 AGTR1 "Cancer, Breast" MONDO_0007254 "Disgenet " 336 AGTR1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 336 AGTR1 "Essential hypertension" MONDO_0007781 "Disgenet " 336 AGTR1 "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 336 AGTR1 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 336 AGTR1 "Congestive heart failure" MONDO_0005252 "Disgenet " 336 AGTR1 "Heart failure" MONDO_0005252 "Disgenet " 336 AGTR1 Nephropathy MONDO_0005240 "Disgenet " 336 AGTR1 "RENAL TUBULAR DYSGENESIS" MONDO_0017609 "Disgenet " 336 AGTR1 "High blood pressure" MONDO_0005044 "Disgenet " 336 AGTR1 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 336 AGTR1 "Aortic Aneurysm, Abdominal" MONDO_0005350 "Disgenet " 33627 C2CD4A "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 33628 C2CD4B "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 3363 ENTPD1 "complex hereditary spastic paraplegia" MONDO:0015150 "ClinGen " 3363 ENTPD1 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 3363 ENTPD1 SPG64 MONDO_0014303 "Disgenet " 33630 PATL2 OOMD4 MONDO_0021575 "Disgenet " 3364 ENTPD2 "Liver Cirrhoses, Biliary" MONDO_0005388 "Disgenet " 3364 ENTPD2 "primary biliary cirrhosis" MONDO_0005388 "Disgenet " 33702 MICOS13 "mitochondrial disease" MONDO:0044970 "ClinGen " 33702 MICOS13 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 3373 EP300 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 3373 EP300 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 3373 EP300 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 3373 EP300 "Cancer, Breast" MONDO_0007254 "Disgenet " 3373 EP300 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3373 EP300 Melanoma MONDO_0005105 "Disgenet " 3373 EP300 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 3373 EP300 "Malignant neoplasm of pancreas" MONDO_0021040 "Disgenet " 3373 EP300 "Rubinstein Taybi Syndrome" MONDO_0008800 "Disgenet " 3373 EP300 CRC MONDO_0005335 "Disgenet " 3373 EP300 "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 3373 EP300 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 3373 EP300 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3373 EP300 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 3373 EP300 "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 3373 EP300 RSTS2 MONDO_0013364 "Disgenet " 3373 EP300 "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency" MONDO:0013364 "ClinGen " 3374 EPAS1 Polycythemias MONDO_0009892 "Disgenet " 3374 EPAS1 carcinogenesis "Disgenet " 3374 EPAS1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 3374 EPAS1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3374 EPAS1 "ERYTHROCYTOSIS, FAMILIAL, 4" MONDO_0012729 "Disgenet " 3374 EPAS1 "Familial erythrocytosis" MONDO_0007572 "Disgenet " 3374 EPAS1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 33742 CAVIN4 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 3377 EPB41 "Elliptocytoses, Hereditary" MONDO_0008165 "Disgenet " 3378 EPB41L1 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 3378 EPB41L1 MRD11 MONDO_0013658 "Disgenet " 33782 PTRHD1 Parkinsonism MONDO_0021095 "Disgenet " 3380 EPB41L3 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 3380 EPB41L3 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3381 EPB42 HS5 MONDO_0012985 "Disgenet " 3381 EPB42 "Hereditary spherocytosis" MONDO_0019350 "Disgenet " 33848 COA5 CEMCOX3 MONDO_0014667 "Disgenet " 3385 EPHA1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 3385 EPHA1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3386 EPHA2 Cataracts MONDO_0005129 "Disgenet " 3386 EPHA2 "Cortical age-related cataract" "Disgenet " 3386 EPHA2 "CATARACT, POSTERIOR POLAR, 1" MONDO_0007288 "Disgenet " 3386 EPHA2 "PSC - posterior subcapsular cataract" MONDO_0020378 "Disgenet " 3386 EPHA2 "Congenital cataract" MONDO_0008925 "Disgenet " 3386 EPHA2 "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 3386 EPHA2 "Noonan Syndrome" MONDO_0018997 "Disgenet " 3386 EPHA2 "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 33867 SDHAF1 "Succinate CoQ Reductase Deficiency" MONDO_0100294 "Disgenet " 33867 SDHAF1 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 33867 SDHAF1 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 33867 SDHAF1 "Leigh syndrome" MONDO:0009723 "ClinGen " 33867 SDHAF1 "mitochondrial disease" MONDO:0044970 "ClinGen " 3387 EPHA3 CRC MONDO_0005335 "Disgenet " 3387 EPHA3 "CARCINOMA OF LUNG" MONDO_0005138 "Disgenet " 3387 EPHA3 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 3387 EPHA3 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 3388 EPHA4 "Melanoma metastatic" MONDO_0005191 "Disgenet " 33882 INPP5K MDCCAID MONDO_0024607 "Disgenet " 3390 EPHA7 CRC MONDO_0005335 "Disgenet " 3392 EPHB1 "Childhood autism" MONDO_0005260 "Disgenet " 3392 EPHB1 "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 3392 EPHB1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 3392 EPHB1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3393 EPHB2 "bleeding disorder, platelet-type, 22" MONDO:0032765 "ClinGen " 3393 EPHB2 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 3393 EPHB2 "Hereditary prostate cancer" MONDO_0023122 "Disgenet " 3393 EPHB2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3393 EPHB2 Ependymoma MONDO_0016698 "Disgenet " 3395 EPHB4 "Milroys Disease" MONDO_0019313 "Disgenet " 3395 EPHB4 "EPHB4-associated vascular malformation spectrum" MONDO:0700080 "ClinGen " 3395 EPHB4 HFASD MONDO_0015009 "Disgenet " 3395 EPHB4 "Capillary Malformation-Arteriovenous Malformation" MONDO_0012016 "Disgenet " 3395 EPHB4 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3395 EPHB4 "aneurysm of vein of Galen (diagnosis)" MONDO_0015196 "Disgenet " 3395 EPHB4 "Arteriovenous malformation" MONDO_0001256 "Disgenet " 3396 EPHB6 CRC MONDO_0005335 "Disgenet " 34 ABCA4 "RETINITIS PIGMENTOSA 19" MONDO_0011137 "Disgenet " 34 ABCA4 "CONE-ROD DYSTROPHY 3" MONDO_0011395 "Disgenet " 34 ABCA4 "ABCA4-related retinopathy" MONDO:0800406 "ClinGen " 34 ABCA4 "age related macular degeneration 2" MONDO:0007932 "ClinGen " 34 ABCA4 "MACULAR DEGENERATION, AGE-RELATED, 2" MONDO_0007932 "Disgenet " 34 ABCA4 "Leber congenital amaurosis" MONDO_0018998 "Disgenet " 34 ABCA4 "dystrophy cone" MONDO_0000455 "Disgenet " 34 ABCA4 "CSNB - Congenital stationary night blindness" MONDO_0016293 "Disgenet " 34 ABCA4 "Cancer, Breast" MONDO_0007254 "Disgenet " 34 ABCA4 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 34 ABCA4 Retinopathy MONDO_0005283 "Disgenet " 34 ABCA4 "Macular dystrophy" "Disgenet " 34 ABCA4 "Retinal dystrophy" MONDO_0019118 "Disgenet " 34 ABCA4 "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 34 ABCA4 STGD1 MONDO_0019353 "Disgenet " 34 ABCA4 "MACULAR DEGENERATION, JUVENILE" MONDO_0019353 "Disgenet " 34 ABCA4 "Retinal atrophy" "Disgenet " 34 ABCA4 "Autosomal recessive retinitis pigmentosa" "Disgenet " 34 ABCA4 Blindness MONDO_0001941 "Disgenet " 34 ABCA4 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 34 ABCA4 "FUNDUS FLAVIMACULATUS" MONDO_0019353 "Disgenet " 34 ABCA4 "Degeneration, Macular" MONDO_0003004 "Disgenet " 3401 EPHX1 Lymphomas MONDO_0005062 "Disgenet " 3401 EPHX1 "Cystic Fibrosis" MONDO_0009061 "Disgenet " 3401 EPHX1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 3401 EPHX1 "Leber's optic atrophy" MONDO_0010788 "Disgenet " 3401 EPHX1 Anemia MONDO_0002280 "Disgenet " 3401 EPHX1 "Neoplasm, Skin" MONDO_0002531 "Disgenet " 3401 EPHX1 Carcinoma MONDO_0004993 "Disgenet " 3401 EPHX1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 3401 EPHX1 Asthma MONDO_0004979 "Disgenet " 3401 EPHX1 "hereditary nonpolyposis colon cancer" MONDO:0018630 "ClinGen " 3401 EPHX1 COPD MONDO_0005002 "Disgenet " 3401 EPHX1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3401 EPHX1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3401 EPHX1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 3401 EPHX1 "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 3401 EPHX1 "Multiple Myeloma" MONDO_0009693 "Disgenet " 3401 EPHX1 "Parkinson Disease" MONDO_0014796 "Disgenet " 3401 EPHX1 ALL MONDO_0004967 "Disgenet " 3401 EPHX1 neurotoxicity MONDO_0005527 "Disgenet " 3401 EPHX1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 3402 EPHX2 "Coronary Disease" MONDO_0005010 "Disgenet " 3402 EPHX2 Schizophrenias MONDO_0005090 "Disgenet " 3402 EPHX2 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 3402 EPHX2 "Congestive heart failure" MONDO_0005252 "Disgenet " 3402 EPHX2 "Heart failure" MONDO_0005252 "Disgenet " 3402 EPHX2 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 3402 EPHX2 "High blood pressure" MONDO_0005044 "Disgenet " 3402 EPHX2 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 3402 EPHX2 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 3413 EPM2A "Lafora Disease" MONDO_0009697 "Disgenet " 3413 EPM2A "Epilepsies, Progressive Myoclonic" MONDO_0020074 "Disgenet " 3413 EPM2A "Lafora disease" MONDO:0009697 "ClinGen " 3415 EPO "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 3415 EPO "Gassers Syndrome" MONDO_0001549 "Disgenet " 3415 EPO Cardiomyopathy MONDO_0004994 "Disgenet " 3415 EPO Glaucomas MONDO_0005041 "Disgenet " 3415 EPO "Anemia, Hemolytic" MONDO_0003664 "Disgenet " 3415 EPO Thrombocytopenia MONDO_0002049 "Disgenet " 3415 EPO "Glioma, malignant" MONDO_0100342 "Disgenet " 3415 EPO Porphyria MONDO_0037939 "Disgenet " 3415 EPO "Status Epilepticus" MONDO_0002125 "Disgenet " 3415 EPO "ischemia limb" MONDO_0000491 "Disgenet " 3415 EPO "Paraneoplastic syndrome" MONDO_0021073 "Disgenet " 3415 EPO Pancytopenia MONDO_0001529 "Disgenet " 3415 EPO "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 3415 EPO Melanoma MONDO_0005105 "Disgenet " 3415 EPO "Diseases, Vascular" MONDO_0005385 "Disgenet " 3415 EPO ECYT5 MONDO_0033483 "Disgenet " 3415 EPO Anemia MONDO_0002280 "Disgenet " 3415 EPO "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 3415 EPO "Parkinson Disease" MONDO_0014796 "Disgenet " 3415 EPO beta-Thalassemia MONDO_0013517 "Disgenet " 3415 EPO "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3415 EPO "Heart failure" MONDO_0005252 "Disgenet " 3415 EPO Nephropathy MONDO_0005240 "Disgenet " 3415 EPO "High blood pressure" MONDO_0005044 "Disgenet " 3415 EPO "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 3415 EPO "Alzheimer Disease" MONDO_0012630 "Disgenet " 3415 EPO "Congestive heart failure" MONDO_0005252 "Disgenet " 3415 EPO "KIDNEY FAILURE" MONDO_0001106 "Disgenet " 3415 EPO Uremia MONDO_0007008 "Disgenet " 3415 EPO "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 3415 EPO "Cardiac Disease" MONDO_0005267 "Disgenet " 3415 EPO "degenerative disorders" MONDO_0005559 "Disgenet " 3415 EPO "Degenerative disease of nervous system, unspecified" MONDO_0005559 "Disgenet " 3415 EPO "Acute kidney injury" MONDO_0002492 "Disgenet " 3415 EPO "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 3415 EPO "Brain Injuries" MONDO_0043510 "Disgenet " 3415 EPO "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 3415 EPO Gliomas MONDO_0021042 "Disgenet " 3415 EPO "Diabetic Neuropathies" MONDO_0006626 "Disgenet " 3416 EPOR "Glioma, malignant" MONDO_0100342 "Disgenet " 3416 EPOR "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 3416 EPOR Melanoma MONDO_0005105 "Disgenet " 3416 EPOR Gliomas MONDO_0021042 "Disgenet " 3416 EPOR "Familial erythrocytosis" MONDO_0007572 "Disgenet " 3416 EPOR Polycythemias MONDO_0009892 "Disgenet " 3416 EPOR Anemia MONDO_0002280 "Disgenet " 3416 EPOR PFCP MONDO_0007572 "Disgenet " 3416 EPOR Erythroleukemias MONDO_0017858 "Disgenet " 3416 EPOR "Breast Neoplasms" MONDO_0021100 "Disgenet " 3418 EPRS1 "Global developmental delay" "Disgenet " 3418 EPRS1 "LEUKODYSTROPHY, HYPOMYELINATING, 15" MONDO_0054782 "Disgenet " 3420 EPS8 "autosomal recessive nonsyndromic hearing loss 102" MONDO:0014428 "ClinGen " 3420 EPS8 DFNB102 MONDO_0014428 "Disgenet " 343 AHCY "Degeneration, Progressive Lenticular" MONDO_0010200 "Disgenet " 343 AHCY "Hepatic methionine adenosyltransferase deficiency" MONDO_0000351 "Disgenet " 343 AHCY Hypermethioninaemia MONDO_0000351 "Disgenet " 343 AHCY "hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase" MONDO:0013404 "ClinGen " 343 AHCY "HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY" MONDO_0013404 "Disgenet " 3430 ERBB2 "Cancer, Lung" MONDO_0008903 "Disgenet " 3430 ERBB2 carcinogenesis "Disgenet " 3430 ERBB2 Gliomas MONDO_0021042 "Disgenet " 3430 ERBB2 "Uterine Carcinosarcoma" MONDO_0006485 "Disgenet " 3430 ERBB2 "Pancreatic adenocarcinoma" MONDO_0006047 "Disgenet " 3430 ERBB2 "Breast cancer (ductal)" MONDO_0004953 "Disgenet " 3430 ERBB2 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 3430 ERBB2 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 3430 ERBB2 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 3430 ERBB2 Cholangiocarcinoma MONDO_0019087 "Disgenet " 3430 ERBB2 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 3430 ERBB2 "Gastrointestinal Neoplasm" MONDO_0002516 "Disgenet " 3430 ERBB2 Medulloblastoma MONDO_0007959 "Disgenet " 3430 ERBB2 "Neuroectodermal Tumor, Primitive" MONDO_0005462 "Disgenet " 3430 ERBB2 "CARCINOMA OF ESOPHAGUS" MONDO_0007576 "Disgenet " 3430 ERBB2 "Malignant melanoma of skin" MONDO_0005012 "Disgenet " 3430 ERBB2 Papilloma MONDO_0002363 "Disgenet " 3430 ERBB2 "Disease, Hirschsprung" MONDO_0018309 "Disgenet " 3430 ERBB2 "Paget's Disease" MONDO_0021165 "Disgenet " 3430 ERBB2 "adenocarcinoma of prostate gland" MONDO_0005082 "Disgenet " 3430 ERBB2 "Bladder transitional cell carcinoma" MONDO_0005611 "Disgenet " 3430 ERBB2 "carcinoma of gallbladder (diagnosis)" MONDO_0003220 "Disgenet " 3430 ERBB2 "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 3430 ERBB2 "OVARIAN CANCER, EPITHELIAL" MONDO_0018364 "Disgenet " 3430 ERBB2 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 3430 ERBB2 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 3430 ERBB2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3430 ERBB2 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 3430 ERBB2 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 3430 ERBB2 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 3430 ERBB2 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 3430 ERBB2 Adenocarcinoma MONDO_0004970 "Disgenet " 3430 ERBB2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3430 ERBB2 "Lung Neoplasm" MONDO_0002732 "Disgenet " 3430 ERBB2 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 3430 ERBB2 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 3430 ERBB2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3430 ERBB2 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 3430 ERBB2 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 3430 ERBB2 "Carcinomas, Infiltrating Duct" MONDO_0005590 "Disgenet " 3430 ERBB2 "adenocarcinoma of ovary (diagnosis)" MONDO_0002752 "Disgenet " 3430 ERBB2 "Squamous cell carcinoma of skin" MONDO_0002529 "Disgenet " 3430 ERBB2 "Lymphatic Metastases" "Disgenet " 3430 ERBB2 "Glioma, malignant" MONDO_0100342 "Disgenet " 3430 ERBB2 "Gallbladder Neoplasm" MONDO_0005411 "Disgenet " 3431 ERBB3 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 3431 ERBB3 "LETHAL CONGENITAL CONTRACTURE SYNDROME 2" MONDO_0011868 "Disgenet " 3431 ERBB3 "Lung Neoplasm" MONDO_0002732 "Disgenet " 3431 ERBB3 "carcinoma of gallbladder (diagnosis)" MONDO_0003220 "Disgenet " 3431 ERBB3 Depression MONDO_0002050 "Disgenet " 3431 ERBB3 "LETHAL CONGENITAL CONTRACTURE SYNDROME 1" MONDO_0017436 "Disgenet " 3431 ERBB3 "Disease, Hirschsprung" MONDO_0018309 "Disgenet " 3431 ERBB3 "Bladder transitional cell carcinoma" MONDO_0005611 "Disgenet " 3431 ERBB3 "Gallbladder Neoplasm" MONDO_0005411 "Disgenet " 3431 ERBB3 "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 3431 ERBB3 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3431 ERBB3 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 3431 ERBB3 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 3431 ERBB3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3431 ERBB3 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 3431 ERBB3 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 3431 ERBB3 Schizophrenias MONDO_0005090 "Disgenet " 3431 ERBB3 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 3431 ERBB3 "NID A" MONDO_8000011 "Disgenet " 3431 ERBB3 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 3431 ERBB3 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3432 ERBB4 Schizophrenias MONDO_0005090 "Disgenet " 3432 ERBB4 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3432 ERBB4 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3432 ERBB4 "Frontotemporal dementia" MONDO_0017276 "Disgenet " 3432 ERBB4 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 3432 ERBB4 Melanoma MONDO_0005105 "Disgenet " 3432 ERBB4 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 3432 ERBB4 "Bipolar Disorders" MONDO_0004985 "Disgenet " 3432 ERBB4 "AMYOTROPHIC LATERAL SCLEROSIS 19" MONDO_0014223 "Disgenet " 3432 ERBB4 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 3432 ERBB4 "Gallbladder Neoplasm" MONDO_0005411 "Disgenet " 3432 ERBB4 "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 3432 ERBB4 "amyotrophic lateral sclerosis type 19" MONDO:0014223 "ClinGen " 3433 ERCC1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 3433 ERCC1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 3433 ERCC1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 3433 ERCC1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3433 ERCC1 "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 3433 ERCC1 "XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D" MONDO_0010212 "Disgenet " 3433 ERCC1 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 3433 ERCC1 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 3433 ERCC1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 3433 ERCC1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 3433 ERCC1 "CEREBROOCULOFACIOSKELETAL SYNDROME 4" MONDO_0012554 "Disgenet " 3433 ERCC1 "Glioma, malignant" MONDO_0100342 "Disgenet " 3433 ERCC1 "congenital malformations nervous system cerebro-oculo-facio-skeletal syndrome" MONDO_0008926 "Disgenet " 3433 ERCC1 ALL MONDO_0004967 "Disgenet " 3433 ERCC1 "adenocarcinoma of esophagus (diagnosis)" MONDO_0005028 "Disgenet " 3433 ERCC1 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 3433 ERCC1 Melanoma MONDO_0005105 "Disgenet " 3433 ERCC1 "Neoplasm, Testicular" MONDO_0005447 "Disgenet " 3433 ERCC1 Gliomas MONDO_0021042 "Disgenet " 3433 ERCC1 "Cancer, Breast" MONDO_0007254 "Disgenet " 3434 ERCC2 "XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D" MONDO_0010212 "Disgenet " 3434 ERCC2 "Kaposis Disease" MONDO_0010215 "Disgenet " 3434 ERCC2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3434 ERCC2 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 3434 ERCC2 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 3434 ERCC2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3434 ERCC2 "xeroderma pigmentosum group D" MONDO:0010212 "ClinGen " 3434 ERCC2 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 3434 ERCC2 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 3434 ERCC2 Melanoma MONDO_0005105 "Disgenet " 3434 ERCC2 "Neoplasm, Skin" MONDO_0002531 "Disgenet " 3434 ERCC2 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 3434 ERCC2 TTDP MONDO_0018053 "Disgenet " 3434 ERCC2 Gliomas MONDO_0021042 "Disgenet " 3434 ERCC2 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 3434 ERCC2 "Cancer, Breast" MONDO_0007254 "Disgenet " 3434 ERCC2 "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 3434 ERCC2 XP3 MONDO_0010211 "Disgenet " 3434 ERCC2 ALL MONDO_0004967 "Disgenet " 3434 ERCC2 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 3434 ERCC2 "Senile cataract" MONDO_0004847 "Disgenet " 3434 ERCC2 "Xeroderma pigmentosum and Cockayne syndrome complex" MONDO_0016354 "Disgenet " 3434 ERCC2 "CEREBROOCULOFACIOSKELETAL SYNDROME 2" MONDO_0012553 "Disgenet " 3434 ERCC2 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 3434 ERCC2 "Trichothiodystrophy Syndrome" MONDO_0002470 "Disgenet " 3434 ERCC2 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 3434 ERCC2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3434 ERCC2 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 3434 ERCC2 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 3434 ERCC2 "Multiple Myeloma" MONDO_0009693 "Disgenet " 3434 ERCC2 "congenital malformations nervous system cerebro-oculo-facio-skeletal syndrome" MONDO_0008926 "Disgenet " 3435 ERCC3 "Xeroderma pigmentosum and Cockayne syndrome complex" MONDO_0016354 "Disgenet " 3435 ERCC3 TTD2 MONDO_0014615 "Disgenet " 3435 ERCC3 "XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B" MONDO_0012531 "Disgenet " 3435 ERCC3 "Kaposis Disease" MONDO_0010215 "Disgenet " 3435 ERCC3 "Trichothiodystrophy Syndrome" MONDO_0002470 "Disgenet " 3435 ERCC3 "xeroderma pigmentosum group B" MONDO:0012531 "ClinGen " 3435 ERCC3 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 3435 ERCC3 "Cancer, Breast" MONDO_0007254 "Disgenet " 3436 ERCC4 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 3436 ERCC4 "XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F" MONDO_0010215 "Disgenet " 3436 ERCC4 "XFE PROGEROID SYNDROME" MONDO_0012590 "Disgenet " 3436 ERCC4 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 3436 ERCC4 "xeroderma pigmentosum group F" MONDO:0010215 "ClinGen " 3436 ERCC4 "Pancreatic carcinoma" MONDO_0005192 "Disgenet " 3436 ERCC4 "Fanconi Anemia" MONDO_0019391 "Disgenet " 3436 ERCC4 "Cockayne's syndrome" MONDO_0016006 "Disgenet " 3436 ERCC4 FANCQ MONDO_0014108 "Disgenet " 3436 ERCC4 "Kaposis Disease" MONDO_0010215 "Disgenet " 3437 ERCC5 XPG MONDO_0010216 "Disgenet " 3437 ERCC5 "Kaposis Disease" MONDO_0010215 "Disgenet " 3437 ERCC5 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 3437 ERCC5 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 3437 ERCC5 Gliomas MONDO_0021042 "Disgenet " 3437 ERCC5 "Xeroderma pigmentosum and Cockayne syndrome complex" MONDO_0016354 "Disgenet " 3437 ERCC5 "XERODERMA PIGMENTOSUM, TYPE G/COCKAYNE SYNDROME" MONDO_0800314 "Disgenet " 3437 ERCC5 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 3437 ERCC5 "Malignant neoplasm of larynx" MONDO_0002352 "Disgenet " 3437 ERCC5 Melanoma MONDO_0005105 "Disgenet " 3437 ERCC5 "congenital malformations nervous system cerebro-oculo-facio-skeletal syndrome" MONDO_0008926 "Disgenet " 3437 ERCC5 "xeroderma pigmentosum group G" MONDO:0010216 "ClinGen " 3437 ERCC5 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 3437 ERCC5 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3438 ERCC6 "UV-Sensitive Syndrome" MONDO_0015797 "Disgenet " 3438 ERCC6 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3438 ERCC6 CRC MONDO_0005335 "Disgenet " 3438 ERCC6 "Lung Neoplasm" MONDO_0002732 "Disgenet " 3438 ERCC6 Microcephalies MONDO_0001149 "Disgenet " 3438 ERCC6 "Aging, Premature" MONDO_0019303 "Disgenet " 3438 ERCC6 COFS1 MONDO_0008955 "Disgenet " 3438 ERCC6 "Cockayne's syndrome" MONDO_0016006 "Disgenet " 3438 ERCC6 CSA MONDO_0019569 "Disgenet " 3438 ERCC6 CSB MONDO_0019570 "Disgenet " 3438 ERCC6 "Cockayne spectrum with or without cerebrooculofacioskeletal syndrome" MONDO:0100506 "ClinGen " 3438 ERCC6 "CARCINOMA OF LUNG" MONDO_0005138 "Disgenet " 3438 ERCC6 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 3438 ERCC6 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 3438 ERCC6 "Cancer, Lung" MONDO_0008903 "Disgenet " 3438 ERCC6 "Cancer, Breast" MONDO_0007254 "Disgenet " 3438 ERCC6 POF11 MONDO_0014843 "Disgenet " 3439 ERCC8 "Cockayne's syndrome" MONDO_0016006 "Disgenet " 3439 ERCC8 CSA MONDO_0019569 "Disgenet " 3439 ERCC8 "UV-Sensitive Syndrome" MONDO_0015797 "Disgenet " 3439 ERCC8 "Cockayne syndrome type 1" MONDO:0019569 "ClinGen " 34399 UQCC3 MC3DN9 MONDO_0014496 "Disgenet " 34403 HYKK "inborn disorder of lysine and hydroxylysine metabolism" MONDO:0017351 "ClinGen " 34403 HYKK COPD MONDO_0005002 "Disgenet " 3443 EREG "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3443 EREG "Cancer, Breast" MONDO_0007254 "Disgenet " 3444 ERF "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3444 ERF "craniosynostosis 4" MONDO:0010929 "ClinGen " 3444 ERF Craniosynostosis MONDO_0015469 "Disgenet " 3446 ERG "Myeloid Leukemias" MONDO_0004643 "Disgenet " 3446 ERG ALL MONDO_0004967 "Disgenet " 3446 ERG "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 3446 ERG Leukemias MONDO_0005059 "Disgenet " 3446 ERG "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3449 ERN1 "Glioblastoma multiforme" MONDO_0018177 "Disgenet " 3449 ERN1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3467 ESR1 Neuroblastoma MONDO_0005072 "Disgenet " 3467 ESR1 "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 3467 ESR1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 3467 ESR1 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 3467 ESR1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 3467 ESR1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3467 ESR1 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 3467 ESR1 "Cancer, Breast" MONDO_0007254 "Disgenet " 3467 ESR1 Osteoporoses MONDO_0005298 "Disgenet " 3467 ESR1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3467 ESR1 Endometrioses MONDO_0005133 "Disgenet " 3467 ESR1 Epithelioma MONDO_0004993 "Disgenet " 3467 ESR1 Osteopathy MONDO_0005381 "Disgenet " 3467 ESR1 "Fibrosing alveolitis" MONDO_0800029 "Disgenet " 3467 ESR1 Mesothelioma MONDO_0005065 "Disgenet " 3467 ESR1 "Bone Disease, Metabolic" MONDO_0800486 "Disgenet " 3467 ESR1 Vitiligo MONDO_0008661 "Disgenet " 3467 ESR1 Glomerulonephritides MONDO_0002462 "Disgenet " 3467 ESR1 Arterioscleroses MONDO_0002277 "Disgenet " 3467 ESR1 "Sporadic Breast Cancer" MONDO_0004438 "Disgenet " 3467 ESR1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 3467 ESR1 "familial cancer of breast" MONDO_0016419 "Disgenet " 3467 ESR1 "Infertility, Male" MONDO_0005372 "Disgenet " 3467 ESR1 Leukemias MONDO_0005059 "Disgenet " 3467 ESR1 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 3467 ESR1 "Liver Neoplasm" MONDO_0002691 "Disgenet " 3467 ESR1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3467 ESR1 Atherosclerosis MONDO_0005311 "Disgenet " 3467 ESR1 "Depressive neurosis" MONDO_0002050 "Disgenet " 3467 ESR1 Depression MONDO_0002050 "Disgenet " 3467 ESR1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 3467 ESR1 Schizophrenias MONDO_0005090 "Disgenet " 3467 ESR1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 3467 ESR1 Adenocarcinoma MONDO_0004970 "Disgenet " 3467 ESR1 "Fibroid Tumor" MONDO_0001572 "Disgenet " 3467 ESR1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 3467 ESR1 Oligospermia MONDO_0001913 "Disgenet " 3467 ESR1 Astrocytoma MONDO_0019781 "Disgenet " 3467 ESR1 "Affective Disorders" MONDO_0005371 "Disgenet " 3467 ESR1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 3467 ESR1 "Coronary Disease" MONDO_0005010 "Disgenet " 3467 ESR1 Obesity MONDO_0019182 "Disgenet " 3467 ESR1 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 3467 ESR1 "MIGRAINE HEADACHE" MONDO_0005277 "Disgenet " 3467 ESR1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 3467 ESR1 Carcinoma MONDO_0004993 "Disgenet " 3467 ESR1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 3468 ESR2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3468 ESR2 Osteoporoses MONDO_0005298 "Disgenet " 3468 ESR2 "Cancer, Breast" MONDO_0007254 "Disgenet " 3468 ESR2 "Alzheimer Disease" MONDO_0012630 "Disgenet " 3468 ESR2 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 3468 ESR2 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 3468 ESR2 Astrocytoma MONDO_0019781 "Disgenet " 3468 ESR2 "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 3468 ESR2 Medulloblastoma MONDO_0007959 "Disgenet " 3468 ESR2 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 3468 ESR2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3468 ESR2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3468 ESR2 "GRAVES DISEASE" MONDO_0005364 "Disgenet " 3468 ESR2 Hypospadia MONDO_0005345 "Disgenet " 3468 ESR2 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 3468 ESR2 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 3468 ESR2 "Primary open-angle glaucoma" MONDO_0100553 "Disgenet " 3468 ESR2 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 3468 ESR2 Schizophrenias MONDO_0005090 "Disgenet " 3468 ESR2 Adenocarcinoma MONDO_0004970 "Disgenet " 3468 ESR2 "Parkinson Disease" MONDO_0014796 "Disgenet " 3468 ESR2 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 3468 ESR2 Carcinoma MONDO_0004993 "Disgenet " 3468 ESR2 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 3468 ESR2 "Coronary Disease" MONDO_0005010 "Disgenet " 3468 ESR2 "OVARIAN DYSGENESIS 8" MONDO_0032590 "Disgenet " 3468 ESR2 Endometrioses MONDO_0005133 "Disgenet " 3468 ESR2 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 3468 ESR2 "High blood pressure" MONDO_0005044 "Disgenet " 3471 ESRRA "Breast Neoplasms" MONDO_0021100 "Disgenet " 3471 ESRRA "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 3471 ESRRA "Disease, Metabolic" MONDO_0005066 "Disgenet " 348 AHR "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 348 AHR Dyslipidaemia "Disgenet " 348 AHR "lung injury" "Disgenet " 348 AHR "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 348 AHR Obesity MONDO_0019182 "Disgenet " 348 AHR "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 348 AHR "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 348 AHR "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 348 AHR "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 348 AHR "Congenital nystagmus" MONDO_0005712 "Disgenet " 348 AHR "Breast Neoplasms" MONDO_0021100 "Disgenet " 348 AHR "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 348 AHR "Behcet Syndrome" MONDO_0007191 "Disgenet " 348 AHR "Glucose Intolerance" MONDO_0001076 "Disgenet " 348 AHR "Infertility, Male" MONDO_0005372 "Disgenet " 348 AHR "Diseases, Vascular" MONDO_0005385 "Disgenet " 348 AHR "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 348 AHR Pneumonia MONDO_0005249 "Disgenet " 348 AHR Atherosclerosis MONDO_0005311 "Disgenet " 348 AHR "Disease, Metabolic" MONDO_0005066 "Disgenet " 348 AHR "Pulmonary arterial hypertension" MONDO_0015924 "Disgenet " 348 AHR "High blood pressure" MONDO_0005044 "Disgenet " 348 AHR "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 348 AHR "Liver Neoplasm" MONDO_0002691 "Disgenet " 348 AHR "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 348 AHR Colitides MONDO_0005534 "Disgenet " 348 AHR "Atopic Eczema" MONDO_0011292 "Disgenet " 3481 ETFA "MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY" MONDO_0009282 "Disgenet " 3481 ETFA "multiple acyl-CoA dehydrogenase deficiency" MONDO:0009282 "ClinGen " 3482 ETFB "multiple acyl-CoA dehydrogenase deficiency" MONDO:0009282 "ClinGen " 3482 ETFB "MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY" MONDO_0009282 "Disgenet " 3483 ETFDH "MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY" MONDO_0009282 "Disgenet " 3483 ETFDH Myopathy MONDO_0003939 "Disgenet " 3483 ETFDH "Disease, Metabolic" MONDO_0005066 "Disgenet " 3483 ETFDH "multiple acyl-CoA dehydrogenase deficiency" MONDO:0009282 "ClinGen " 3488 ETS1 "congenital heart disease" MONDO:0005453 "ClinGen " 3488 ETS1 "congenital heart disorder" MONDO_0005453 "Disgenet " 3488 ETS1 "JACOBSEN SYNDROME" MONDO_0007838 "Disgenet " 3488 ETS1 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 3488 ETS1 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 3489 ETS2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3490 ETV1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3490 ETV1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3493 ETV4 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3493 ETV4 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3494 ETV5 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3495 ETV6 "THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 5" MONDO_0014536 "Disgenet " 3495 ETV6 "Chronic myelomonocytic leukemia" MONDO_0020311 "Disgenet " 3495 ETV6 "Myeloid neoplasia" MONDO_0005170 "Disgenet " 3495 ETV6 "Chronic myeloproliferative disease" MONDO_0020076 "Disgenet " 3495 ETV6 "Lymphoid Leukemias" MONDO_0005402 "Disgenet " 3495 ETV6 Leukemias MONDO_0005059 "Disgenet " 3495 ETV6 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 3495 ETV6 ALL MONDO_0004967 "Disgenet " 3495 ETV6 "Hematologic Neoplasm" MONDO_0044881 "Disgenet " 3495 ETV6 Thrombocytopenia MONDO_0002049 "Disgenet " 3495 ETV6 "thrombocytopenia 5" MONDO:0014536 "ClinGen " 3495 ETV6 "Congenital Mesoblastic Nephromas" MONDO_0017043 "Disgenet " 3495 ETV6 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 3496 MPZL2 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 3496 MPZL2 "DEAFNESS, AUTOSOMAL RECESSIVE 111" MONDO_0029142 "Disgenet " 3497 EVC "Chondroectodermal Dysplasias" MONDO_0009162 "Disgenet " 3497 EVC "WEYERS ACROFACIAL DYSOSTOSIS" MONDO_0008673 "Disgenet " 3498 MECOM "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 3498 MECOM "Myeloid neoplasia" MONDO_0005170 "Disgenet " 3498 MECOM "MECOM-associated syndrome" MONDO:0100458 "ClinGen " 3498 MECOM "Radioulnar synostosis" MONDO_0017985 "Disgenet " 3498 MECOM "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 3498 MECOM "Breast Neoplasms" MONDO_0021100 "Disgenet " 3498 MECOM Thrombocytopenia MONDO_0002049 "Disgenet " 3498 MECOM "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 3498 MECOM "Myeloid Leukemias" MONDO_0004643 "Disgenet " 3498 MECOM Pancytopenia MONDO_0001529 "Disgenet " 3499 EVI2A "Neurofibromatosis 1" MONDO_0018975 "Disgenet " 35 ABCA5 "Gingival fibromatosis and hypertrichosis syndrome" MONDO_0007610 "Disgenet " 3508 EWSR1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3508 EWSR1 "Extraosseous Ewing's Sarcoma" MONDO_0018270 "Disgenet " 3508 EWSR1 "Neuroectodermal Tumor, Primitive" MONDO_0005462 "Disgenet " 3508 EWSR1 "Sarcoma, Clear Cell" MONDO_0002926 "Disgenet " 3508 EWSR1 "Extraosseous Chondrosarcoma" MONDO_0012825 "Disgenet " 3508 EWSR1 "Askin's tumor" MONDO_0012817 "Disgenet " 3508 EWSR1 "Neuroectodermal Tumors, Peripheral" MONDO_0018271 "Disgenet " 3508 EWSR1 DSRCT MONDO_0019373 "Disgenet " 3508 EWSR1 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 3508 EWSR1 "Ewing's sarcoma" MONDO_0012817 "Disgenet " 3508 EWSR1 "amyotrophic lateral sclerosis" MONDO:0004976 "ClinGen " 3512 EXT1 "exostoses, multiple, type 1" MONDO:0007585 "ClinGen " 3512 EXT1 Chondrosarcoma MONDO_0008977 "Disgenet " 3512 EXT1 "Giedion Langer Syndrome" MONDO_0007874 "Disgenet " 3512 EXT1 Osteochondromatoses MONDO_0005508 "Disgenet " 3512 EXT1 "Aclases, Diaphyseal" MONDO_0005508 "Disgenet " 3512 EXT1 "Cancer, Breast" MONDO_0007254 "Disgenet " 3512 EXT1 "Primary Bone Chondrosarcoma" MONDO_0008977 "Disgenet " 3513 EXT2 "EXOSTOSES, MULTIPLE, TYPE II" MONDO_0011022 "Disgenet " 3513 EXT2 SSMS MONDO_0014731 "Disgenet " 3513 EXT2 "exostoses, multiple, type 2" MONDO:0007586 "ClinGen " 3513 EXT2 "Aclases, Diaphyseal" MONDO_0005508 "Disgenet " 3513 EXT2 Osteochondromatoses MONDO_0005508 "Disgenet " 3519 EYA1 "BRANCHIOOTORENAL SYNDROME 1" MONDO_0007029 "Disgenet " 3519 EYA1 "Branchiootic dysplasia" MONDO_0018878 "Disgenet " 3519 EYA1 Deformity "Disgenet " 3519 EYA1 "Branchio Oto Renal Syndrome" MONDO_0007029 "Disgenet " 3519 EYA1 "branchio-oto-renal syndrome" MONDO:0007029 "ClinGen " 3519 EYA1 "Hearing Loss, Conductive" MONDO_0020679 "Disgenet " 3519 EYA1 BOS1 MONDO_0018878 "Disgenet " 352 AIF1 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 352 AIF1 "Lewy Body Disease" MONDO_0007488 "Disgenet " 352 AIF1 "Parkinson Disease" MONDO_0014796 "Disgenet " 3522 EYA4 CMD1J MONDO_0011541 "Disgenet " 3522 EYA4 Hypoacusis MONDO_0005365 "Disgenet " 3522 EYA4 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 3522 EYA4 DFNA10 MONDO_0011031 "Disgenet " 3522 EYA4 "Isolated Deafness" MONDO_0019497 "Disgenet " 3522 EYA4 CRC MONDO_0005335 "Disgenet " 3522 EYA4 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3522 EYA4 "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 3522 EYA4 "dilated cardiomyopathy 1J" MONDO:0011541 "ClinGen " 3522 EYA4 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 3527 EZH2 "Weaver syndrome" MONDO:0010193 "ClinGen " 3527 EZH2 "Pediatric Neoplasm" MONDO_0021079 "Disgenet " 3527 EZH2 "adenocarcinoma of large intestine (diagnosis)" MONDO_0005008 "Disgenet " 3527 EZH2 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 3527 EZH2 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 3527 EZH2 "Myelosclerosis with myeloid metaplasia" MONDO_0800305 "Disgenet " 3527 EZH2 "malignant squamous cell neoplasm of oral cavity (diagnosis)" MONDO_0004958 "Disgenet " 3527 EZH2 "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 3527 EZH2 Myelofibrosis MONDO_0009692 "Disgenet " 3527 EZH2 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 3527 EZH2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3527 EZH2 Glioblastoma MONDO_0018177 "Disgenet " 3527 EZH2 Cholangiocarcinoma MONDO_0019087 "Disgenet " 3527 EZH2 "Disease, Myeloproliferative-Myelodisplastic" MONDO_0006311 "Disgenet " 3527 EZH2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3527 EZH2 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 3527 EZH2 "B Cell Lymphoma" MONDO_0015759 "Disgenet " 3527 EZH2 Lymphomas MONDO_0005062 "Disgenet " 3527 EZH2 "Brill Symmers Disease" MONDO_0018906 "Disgenet " 3527 EZH2 "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 3527 EZH2 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 3527 EZH2 "Malignant melanoma of skin" MONDO_0005012 "Disgenet " 3527 EZH2 "Chronic myelomonocytic leukemia" MONDO_0020311 "Disgenet " 3527 EZH2 "Acute Megakaryoblastic Leukemia" MONDO_0018872 "Disgenet " 3527 EZH2 "Weaver syndrome" MONDO_0013038 "Disgenet " 3527 EZH2 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 3527 EZH2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3527 EZH2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3528 F10 "Deficiencies, Factor X" MONDO_0009212 "Disgenet " 3528 F10 "Hereditary Factor X Deficiency" MONDO_0009212 "Disgenet " 3528 F10 "congenital factor X deficiency" MONDO:0009212 "ClinGen " 3528 F10 Thrombocytopenia MONDO_0002049 "Disgenet " 3528 F10 "Cancer, Breast" MONDO_0007254 "Disgenet " 3528 F10 "Blood Coagulation Disorder" MONDO_0001531 "Disgenet " 3530 F12 "hereditary angioedema type 3" MONDO:0012526 "ClinGen " 3530 F12 "congenital factor XII deficiency" MONDO:0009315 "ClinGen " 3530 F12 "Hereditary angio-oedema with normal C1 esterase inhibitor activity" MONDO_0100567 "Disgenet " 3530 F12 "Deficiencies, Factor XII" MONDO_0009315 "Disgenet " 3530 F12 "Hereditary Angioedemas, Estrogen-Sensitive" MONDO_0012526 "Disgenet " 3530 F12 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 3530 F12 "hereditary angioneurotic edema" MONDO_0019623 "Disgenet " 3530 F12 "High blood pressure" MONDO_0005044 "Disgenet " 3531 F13A1 "Hereditary factor XIII A subunit deficiency" MONDO_0013187 "Disgenet " 3531 F13A1 "Coagulations, Disseminated Intravascular" MONDO_0001243 "Disgenet " 3531 F13A1 "factor XIII, A subunit, deficiency of" MONDO:0013187 "ClinGen " 3531 F13A1 "Deficiencies, Factor XIII" MONDO_0002241 "Disgenet " 3531 F13A1 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 3534 F13B "factor XIII, b subunit, deficiency of" MONDO:0013190 "ClinGen " 3537 F2R "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 3538 F2RL1 Asthma MONDO_0004979 "Disgenet " 3538 F2RL1 COPD MONDO_0005002 "Disgenet " 3538 F2RL1 Melanoma MONDO_0005105 "Disgenet " 3541 F3 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 3541 F3 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 3541 F3 "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 3541 F3 Angiohemophilias MONDO_0013622 "Disgenet " 3541 F3 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 3541 F3 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3541 F3 "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 3541 F3 "Coagulations, Disseminated Intravascular" MONDO_0001243 "Disgenet " 3542 F5 "Venous Thromboembolism" MONDO_0005399 "Disgenet " 3542 F5 "Deficiencies, Factor V" MONDO_0009210 "Disgenet " 3542 F5 "Occlusion, Retinal Vein" MONDO_0006951 "Disgenet " 3542 F5 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 3542 F5 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 3542 F5 "THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE" MONDO_0008560 "Disgenet " 3542 F5 "Hereditary thrombophilia" MONDO_0100240 "Disgenet " 3542 F5 "thrombophilia due to activated protein C resistance" MONDO:0008560 "ClinGen " 3542 F5 "congenital factor V deficiency" MONDO:0009210 "ClinGen " 3542 F5 "Mesenteric vascular insufficiency" "Disgenet " 3542 F5 "Avascular necrosis of bone" MONDO_0005380 "Disgenet " 3542 F5 "Adenomatous Polyposis Coli" MONDO_0021056 "Disgenet " 3542 F5 "cerebral sinus venous thrombosis" MONDO_0017993 "Disgenet " 3542 F5 "Cerebral Infarction" MONDO_0002679 "Disgenet " 3542 F5 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 3542 F5 "Cerebrovascular accident" MONDO_0005098 "Disgenet " 3542 F5 "Blood Coagulation Disorder" MONDO_0001531 "Disgenet " 3542 F5 "Cancer, Breast" MONDO_0007254 "Disgenet " 3542 F5 "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 3542 F5 "Hepatic vein thrombosis" MONDO_0010947 "Disgenet " 3544 F7 "factor VII deficiency" MONDO:0002244 "ClinGen " 3544 F7 "Deficiencies, Factor VII" MONDO_0002244 "Disgenet " 3544 F7 "Diatheses, Hemorrhagic" MONDO_0002243 "Disgenet " 3544 F7 "Cerebral Infarction" MONDO_0002679 "Disgenet " 3544 F7 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3544 F7 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 3544 F7 "High blood pressure" MONDO_0005044 "Disgenet " 3544 F7 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 3544 F7 "Coagulations, Disseminated Intravascular" MONDO_0001243 "Disgenet " 3544 F7 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 3544 F7 Obesity MONDO_0019182 "Disgenet " 3544 F7 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 3544 F7 "Coronary Disease" MONDO_0005010 "Disgenet " 3544 F7 "urine blood" "Disgenet " 3544 F7 "Liver Failure, Acute" MONDO_0019542 "Disgenet " 3544 F7 Thrombocytopenia MONDO_0002049 "Disgenet " 3544 F7 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 3546 F8 "hemophilia A" MONDO:0010602 "ClinGen " 3546 F8 "Factor VIII deficiency, acquired" MONDO_0035735 "Disgenet " 3546 F8 "Severe haemophilia A" MONDO_0015719 "Disgenet " 3546 F8 "Hemophilia A" MONDO_0010602 "Disgenet " 3546 F8 "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 3546 F8 Thrombophilia MONDO_0002305 "Disgenet " 3546 F8 "Moderate haemophilia A" MONDO_0015720 "Disgenet " 3546 F8 "Mild hemophilia A (disorder)" MONDO_0015721 "Disgenet " 3553 FAAH Obesity MONDO_0019182 "Disgenet " 3553 FAAH "Abuse, Marihuana" MONDO_0005689 "Disgenet " 3553 FAAH "Cancer, Breast" MONDO_0007254 "Disgenet " 3553 FAAH "Dependence, Cannabis" MONDO_0005689 "Disgenet " 3554 HSD17B8 "Cancer, Breast" MONDO_0007254 "Disgenet " 3557 FABP3 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 3557 FABP3 "High blood pressure" MONDO_0005044 "Disgenet " 3559 FABP4 "Cancer, Breast" MONDO_0007254 "Disgenet " 3559 FABP4 Nephropathy MONDO_0005240 "Disgenet " 3559 FABP4 Carcinoma MONDO_0004993 "Disgenet " 356 CRYBG1 Melanoma MONDO_0005105 "Disgenet " 3560 FABP5 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3562 FABP7 "Bipolar Disorders" MONDO_0004985 "Disgenet " 3562 FABP7 Schizophrenias MONDO_0005090 "Disgenet " 3562 FABP7 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3569 ACSL1 Obesity MONDO_0019182 "Disgenet " 3570 ACSL3 "Cancer, Breast" MONDO_0007254 "Disgenet " 3570 ACSL3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3570 ACSL3 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 3571 ACSL4 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 3571 ACSL4 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 3571 ACSL4 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3571 ACSL4 "non-syndromic X-linked intellectual disability" MONDO:0019181 "ClinGen " 3571 ACSL4 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3571 ACSL4 MRX68 MONDO_0010313 "Disgenet " 3571 ACSL4 CRC MONDO_0005335 "Disgenet " 3573 FADD Leukemias MONDO_0005059 "Disgenet " 3575 FADS2 Schizophrenias MONDO_0005090 "Disgenet " 3575 FADS2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 3579 FAH "tyrosinemia type I" MONDO:0010161 "ClinGen " 3579 FAH "TYROSINEMIA, TYPE I" MONDO_0004741 "Disgenet " 3579 FAH tyrosinemia MONDO_0004741 "Disgenet " 3579 FAH Hypertyrosinemia MONDO_0004741 "Disgenet " 358 AIP "PITUITARY ADENOMA, FAMILIAL ISOLATED" MONDO_0017824 "Disgenet " 358 AIP Acromegaly MONDO_0019933 "Disgenet " 358 AIP "non-secretory adenoma of pituitary gland (diagnosis)" MONDO_0019613 "Disgenet " 358 AIP "Pituitary Corticotropin Secreting Adenoma" MONDO_0009050 "Disgenet " 358 AIP "Pituitary-dependent Cushing's disease" MONDO_0020528 "Disgenet " 358 AIP Adenoma MONDO_0004972 "Disgenet " 358 AIP "Pituitary Adenoma, PRL-Secreting" MONDO_0010911 "Disgenet " 358 AIP Gigantism MONDO_0020479 "Disgenet " 358 AIP PITA1 MONDO_0007052 "Disgenet " 3581 BPTF "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 3581 BPTF "syndromic intellectual disability" MONDO:0000508 "ClinGen " 3581 BPTF "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 3581 BPTF "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES" MONDO_0060596 "Disgenet " 3582 FANCA "Cervical Neoplasm" MONDO_0021230 "Disgenet " 3582 FANCA "Cancer, Breast" MONDO_0007254 "Disgenet " 3582 FANCA "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 3582 FANCA "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 3582 FANCA "Malignant neoplasm of cervix uteri" MONDO_0002974 "Disgenet " 3582 FANCA "Primary ovarian failure" MONDO_0005387 "Disgenet " 3582 FANCA "Cancer, Ovarian" MONDO_0008170 "Disgenet " 3582 FANCA "Fanconi anemia complementation group A" MONDO:0009215 "ClinGen " 3582 FANCA "Fanconi Anemia" MONDO_0019391 "Disgenet " 3582 FANCA FA MONDO_0019391 "Disgenet " 3585 FANCD2 FANCD2 MONDO_0009214 "Disgenet " 3585 FANCD2 "Fanconi Anemia" MONDO_0019391 "Disgenet " 3585 FANCD2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3585 FANCD2 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 3585 FANCD2 "Fanconi anemia complementation group D2" MONDO:0009214 "ClinGen " 3585 FANCD2 "Cancer, Breast" MONDO_0007254 "Disgenet " 3586 FANCE "FANCONI ANEMIA, COMPLEMENTATION GROUP E" MONDO_0010953 "Disgenet " 3586 FANCE "Fanconi Anemia" MONDO_0019391 "Disgenet " 3586 FANCE "Fanconi anemia complementation group E" MONDO:0010953 "ClinGen " 3587 FANCF "FANCONI ANEMIA, COMPLEMENTATION GROUP F" MONDO_0011325 "Disgenet " 3587 FANCF "Fanconi anemia complementation group F" MONDO:0011325 "ClinGen " 3587 FANCF "Cancer, Ovarian" MONDO_0008170 "Disgenet " 3587 FANCF "Fanconi Anemia" MONDO_0019391 "Disgenet " 3588 FANCG "Fanconi anemia complementation group G" MONDO:0013565 "ClinGen " 3588 FANCG "Fanconi Anemia" MONDO_0019391 "Disgenet " 3588 FANCG "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 3588 FANCG "FANCONI ANEMIA, COMPLEMENTATION GROUP G" MONDO_0013565 "Disgenet " 3588 FANCG "Pancreatic carcinoma" MONDO_0005192 "Disgenet " 3594 FASN "Congestive heart failure" MONDO_0005252 "Disgenet " 3594 FASN "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 3594 FASN Liposarcoma MONDO_0005060 "Disgenet " 3594 FASN "Heart failure" MONDO_0005252 "Disgenet " 3594 FASN "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 3594 FASN Obesity MONDO_0019182 "Disgenet " 3594 FASN Melanoma MONDO_0005105 "Disgenet " 3594 FASN "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3594 FASN "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 3594 FASN "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 3594 FASN "Breast Neoplasms" MONDO_0021100 "Disgenet " 3595 FAT1 "malignant squamous cell neoplasm of oral cavity (diagnosis)" MONDO_0004958 "Disgenet " 3595 FAT1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3595 FAT1 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 3595 FAT1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 3595 FAT1 Glioblastoma MONDO_0018177 "Disgenet " 3595 FAT1 "Head and Neck Neoplasms" MONDO_0005586 "Disgenet " 3596 FAT2 SCA45 MONDO_0033480 "Disgenet " 3599 FBL "Breast Neoplasms" MONDO_0021100 "Disgenet " 3600 FBLN1 "SYNPOLYDACTYLY 2" MONDO_0011984 "Disgenet " 3600 FBLN1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3601 FBLN2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3601 FBLN2 "Pulmonary arterial hypertension" MONDO_0015924 "Disgenet " 3601 FBLN2 "pulmonary arterial hypertension" MONDO:0015924 "ClinGen " 3601 FBLN2 "congenital heart disease" MONDO:0005453 "ClinGen " 3602 FBLN5 "demyelinating hereditary motor and sensory neuropathy" MONDO:0018776 "ClinGen " 3602 FBLN5 "Cutis Laxa" MONDO_0007411 "Disgenet " 3602 FBLN5 "AAMD - Age related macular degeneration" MONDO_0005150 "Disgenet " 3602 FBLN5 ARCL1A MONDO_0009052 "Disgenet " 3603 FBN1 OCTD MONDO_0016663 "Disgenet " 3603 FBN1 "Protrusio acetabuli" MONDO_0008320 "Disgenet " 3603 FBN1 "Ischemic stroke" "Disgenet " 3603 FBN1 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 3603 FBN1 "Aortic Valve Insufficiency" MONDO_0005648 "Disgenet " 3603 FBN1 Nearsightedness MONDO_0001384 "Disgenet " 3603 FBN1 Craniosynostosis MONDO_0015469 "Disgenet " 3603 FBN1 "Congenital diaphragmatic hernia" MONDO_0007719 "Disgenet " 3603 FBN1 "Cardiac Disease" MONDO_0005267 "Disgenet " 3603 FBN1 "Weill Marchesani Syndrome, Autosomal Dominant" MONDO_0012013 "Disgenet " 3603 FBN1 "Loeys-Dietz Syndrome" MONDO_0018954 "Disgenet " 3603 FBN1 "Ascending aortic aneurysm" "Disgenet " 3603 FBN1 "aneurysm of aortic root (diagnosis)" "Disgenet " 3603 FBN1 "Aneurysms, Aortic" MONDO_0005160 "Disgenet " 3603 FBN1 "Connective Tissue Diseases" MONDO_0003900 "Disgenet " 3603 FBN1 "Click-Murmur Syndrome, Mitral" MONDO_0004910 "Disgenet " 3603 FBN1 "STIFF SKIN SYNDROME" MONDO_0008492 "Disgenet " 3603 FBN1 "Ectopia Lentis" MONDO_0015998 "Disgenet " 3603 FBN1 "Marfan Syndrome" MONDO_0007947 "Disgenet " 3603 FBN1 "ACROMICRIC DYSPLASIA" MONDO_0007055 "Disgenet " 3603 FBN1 "Weill-Marchesani syndrome" MONDO_0018096 "Disgenet " 3603 FBN1 "Dissecting aortic aneurysm" "Disgenet " 3603 FBN1 Scolioses MONDO_0005392 "Disgenet " 3603 FBN1 "Shprintzen-Goldberg syndrome" MONDO:0008426 "ClinGen " 3603 FBN1 "familial thoracic aortic aneurysm and aortic dissection" MONDO:0019625 "ClinGen " 3603 FBN1 "Marfan syndrome" MONDO:0007947 "ClinGen " 3603 FBN1 GPHYSD2 MONDO_0013612 "Disgenet " 3603 FBN1 "Dilation of the ascending aorta" "Disgenet " 3603 FBN1 "Aortic Aneurysm, Thoracic" MONDO_0005396 "Disgenet " 3603 FBN1 "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 3603 FBN1 "MARFAN SYNDROME, NEONATAL" MONDO_0017309 "Disgenet " 3603 FBN1 "Dissection of aorta" "Disgenet " 3603 FBN1 "geleophysic dysplasia" MONDO_0007055 "Disgenet " 3603 FBN1 "Long, slender fingers" "Disgenet " 3603 FBN1 "Ectopia lentis isolated" MONDO_0007514 "Disgenet " 3603 FBN1 "CONTRACTURAL ARACHNODACTYLY, CONGENITAL" MONDO_0007363 "Disgenet " 3603 FBN1 MFS1 MONDO_0007947 "Disgenet " 3603 FBN1 "acute aortic dissections" "Disgenet " 3603 FBN1 "Lens Subluxation" MONDO_0001271 "Disgenet " 3603 FBN1 "Familial ectopia lentis" MONDO_0015998 "Disgenet " 3603 FBN1 "SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME" MONDO_0008426 "Disgenet " 3603 FBN1 "AORTIC ANEURYSM, FAMILIAL THORACIC 1" MONDO_0024559 "Disgenet " 3604 FBN2 "Connective Tissue Diseases" MONDO_0003900 "Disgenet " 3604 FBN2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3604 FBN2 "CONTRACTURAL ARACHNODACTYLY, CONGENITAL" MONDO_0007363 "Disgenet " 3604 FBN2 "familial thoracic aortic aneurysm and aortic dissection" MONDO:0019625 "ClinGen " 3604 FBN2 Scolioses MONDO_0005392 "Disgenet " 3604 FBN2 "Marfan Syndrome" MONDO_0007947 "Disgenet " 3606 FBP1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 3606 FBP1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3606 FBP1 "Deficiencies, Fructosediphosphatase" MONDO_0009251 "Disgenet " 3608 FCAR "Bergers Disease" MONDO_0005342 "Disgenet " 361 AK1 "ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO" MONDO_0012967 "Disgenet " 3612 FCER2 "Parkinson Disease" MONDO_0014796 "Disgenet " 3616 FCGR2A "Lymphoid Leukemias" MONDO_0005402 "Disgenet " 3616 FCGR2A "Cystic Fibrosis" MONDO_0009061 "Disgenet " 3616 FCGR2A "Anemia, Hemolytic" MONDO_0003664 "Disgenet " 3616 FCGR2A "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 3616 FCGR2A "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 3616 FCGR2A Thrombocytopenia MONDO_0002049 "Disgenet " 3616 FCGR2A "Glomerulonephritides, Lupus" MONDO_0005556 "Disgenet " 3616 FCGR2A Atherosclerosis MONDO_0005311 "Disgenet " 3616 FCGR2A "Dengue fever" MONDO_0005502 "Disgenet " 3616 FCGR2A "Malaria, Falciparum" MONDO_0005920 "Disgenet " 3616 FCGR2A "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 3616 FCGR2A "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 3616 FCGR2A "Infection, Plasmodium" MONDO_0005136 "Disgenet " 3616 FCGR2A "Ulcerative colitis" MONDO_0005101 "Disgenet " 3616 FCGR2A "Kawasaki's disease" MONDO_0012727 "Disgenet " 3616 FCGR2A "Autoimmune Thrombocytopenic Purpuras" MONDO_0008558 "Disgenet " 3616 FCGR2A "Dengue hemorrhagic fever" MONDO_0005358 "Disgenet " 3616 FCGR2A "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 3616 FCGR2A "Coronary Disease" MONDO_0005010 "Disgenet " 3616 FCGR2A "Multiple Myeloma" MONDO_0009693 "Disgenet " 3618 FCGR2B "Infection, Plasmodium" MONDO_0005136 "Disgenet " 3618 FCGR2B Glomerulonephritides MONDO_0002462 "Disgenet " 3618 FCGR2B "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 3618 FCGR2B "Autoimmune Thrombocytopenic Purpuras" MONDO_0008558 "Disgenet " 3619 FCGR3A "HIV infection" MONDO_0005109 "Disgenet " 3619 FCGR3A Glomerulonephritides MONDO_0002462 "Disgenet " 3619 FCGR3A "Coronary Disease" MONDO_0005010 "Disgenet " 3619 FCGR3A "Behcet Syndrome" MONDO_0007191 "Disgenet " 3619 FCGR3A "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 3619 FCGR3A "Immune thrombocytopenia" MONDO_0002048 "Disgenet " 3619 FCGR3A Lymphocytopenias MONDO_0003783 "Disgenet " 3619 FCGR3A "Bergers Disease" MONDO_0005342 "Disgenet " 3619 FCGR3A Polyneuropathy MONDO_0001824 "Disgenet " 3619 FCGR3A IMD20 MONDO_0014313 "Disgenet " 3619 FCGR3A "Macroglobulinemia, Waldenstrom's" MONDO_0100280 "Disgenet " 3619 FCGR3A "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 3619 FCGR3A "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 3619 FCGR3A Asthma MONDO_0004979 "Disgenet " 3619 FCGR3A Arthritides MONDO_0005578 "Disgenet " 3619 FCGR3A "Autoimmune Thrombocytopenic Purpuras" MONDO_0008558 "Disgenet " 362 AK2 "reticular dysgenesis" MONDO:0009973 "ClinGen " 362 AK2 "Combined Immunodeficiencies, Severe" MONDO_0015974 "Disgenet " 362 AK2 "IMMUNOERYTHROMYELOID HYPOPLASIA" MONDO_0009456 "Disgenet " 3622 FKTN FCMD MONDO_0000171 "Disgenet " 3622 FKTN "Walker-Warburg congenital muscular dystrophy" MONDO_0000171 "Disgenet " 3622 FKTN MDDGB4 MONDO_0013156 "Disgenet " 3622 FKTN "myopathy caused by variation in FKTN" MONDO:0700067 "ClinGen " 3622 FKTN LGMD2K MONDO_0012248 "Disgenet " 3622 FKTN CMD1X MONDO_0012704 "Disgenet " 3622 FKTN "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 3622 FKTN LGMD2M MONDO_0012699 "Disgenet " 3622 FKTN "Muscle-Eye-Brain Disease" MONDO_0000171 "Disgenet " 3622 FKTN "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 3622 FKTN alpha-Dystroglycanopathies MONDO_0000171 "Disgenet " 3625 FCN3 "Disease, Rheumatic Heart" MONDO_0006955 "Disgenet " 3631 FDPS Porokeratosis MONDO_0006602 "Disgenet " 3647 FECH "protoporphyria, erythropoietic, 1" MONDO:0008319 "ClinGen " 3647 FECH "Porphyria, Erythropoietic" MONDO_0009902 "Disgenet " 3647 FECH "Erythropoietic Protoporphyria" MONDO_0001676 "Disgenet " 3650 FEN1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3650 FEN1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 3656 MYOF "hereditary angioneurotic edema" MONDO_0019623 "Disgenet " 3657 FES "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 3659 FEZ1 Psychosis MONDO_0005485 "Disgenet " 3659 FEZ1 Schizophrenias MONDO_0005090 "Disgenet " 3662 FGB "Congenital dysfibrinogenemia" MONDO_0014452 "Disgenet " 3662 FGB "HYPOFIBRINOGENEMIA, CONGENITAL" MONDO_0008737 "Disgenet " 3662 FGB Hypofibrinogenemia "Disgenet " 3662 FGB "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 3662 FGB "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 3662 FGB "Deep Vein Thrombosis" "Disgenet " 3662 FGB "Coronary Disease" MONDO_0005010 "Disgenet " 3662 FGB "Cardiovascular Disease" MONDO_0004995 "Disgenet " 3662 FGB Afibrinogenemia MONDO_0008737 "Disgenet " 3662 FGB "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 3662 FGB Thrombocytopenia MONDO_0002049 "Disgenet " 3662 FGB "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 3662 FGB "Parkinson Disease" MONDO_0014796 "Disgenet " 3662 FGB "congenital fibrinogen deficiency" MONDO_0018060 "Disgenet " 3662 FGB Hypodysfibrinogenaemia MONDO_0016638 "Disgenet " 3662 FGB "congenital fibrinogen deficiency" MONDO:0018060 "ClinGen " 3662 FGB "Familial hypofibrinogenemia" MONDO_0015096 "Disgenet " 3662 FGB "Artery Disease, Carotid" MONDO_0005269 "Disgenet " 3663 FGD1 "Aarskog syndrome" MONDO_0021005 "Disgenet " 3663 FGD1 "Aarskog-Scott syndrome, X-linked" MONDO:0010589 "ClinGen " 3663 FGD1 "Urogenital Abnormalities" "Disgenet " 3665 FGF1 Mesothelioma MONDO_0005065 "Disgenet " 3665 FGF1 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 3665 FGF1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 3665 FGF1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 3665 FGF1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 3665 FGF1 Schizophrenias MONDO_0005090 "Disgenet " 3665 FGF1 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 3665 FGF1 Leukemias MONDO_0005059 "Disgenet " 3666 FGF10 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3666 FGF10 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 3666 FGF10 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3666 FGF10 ALSG MONDO_0008397 "Disgenet " 3666 FGF10 "Cleft Palate" MONDO_0016064 "Disgenet " 3666 FGF10 "LACRIMOAURICULODENTODIGITAL SYNDROME 3" MONDO_0859578 "Disgenet " 3666 FGF10 LADD MONDO_0007872 "Disgenet " 3668 FGF12 EIEE47 MONDO_0014949 "Disgenet " 3668 FGF12 "developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 367 AKAP1 Obesity MONDO_0019182 "Disgenet " 3670 FGF13 DEE90 MONDO_0025353 "Disgenet " 3671 FGF14 "Cognitive Dysfunction" "Disgenet " 3671 FGF14 "Autosomal dominant cerebellar ataxia" MONDO_0020380 "Disgenet " 3671 FGF14 "SPINOCEREBELLAR ATAXIA 27" MONDO_0008654 "Disgenet " 3671 FGF14 "Ataxia, Spinocerebellar" MONDO_0000437 "Disgenet " 3671 FGF14 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 3673 FGF17 "Syndrome, Kallmann's" MONDO_0013961 "Disgenet " 3673 FGF17 HH20 MONDO_0014106 "Disgenet " 3675 FGF19 "Syndrome X, Reaven" MONDO_0011565 "Disgenet " 3675 FGF19 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 3675 FGF19 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3676 FGF2 Depression MONDO_0002050 "Disgenet " 3676 FGF2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3676 FGF2 Gliomas MONDO_0021042 "Disgenet " 3676 FGF2 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 3676 FGF2 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 3676 FGF2 "Affective Disorders" MONDO_0005371 "Disgenet " 3676 FGF2 "Corneal Neovascularization" MONDO_0006713 "Disgenet " 3676 FGF2 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 3676 FGF2 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 3676 FGF2 "Dysfunction, Erectile" MONDO_0005362 "Disgenet " 3676 FGF2 "Diabetic Neuropathies" MONDO_0006626 "Disgenet " 3676 FGF2 "Chronic ulcer of skin" MONDO_0004605 "Disgenet " 3676 FGF2 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 3676 FGF2 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 3676 FGF2 Mesothelioma MONDO_0005065 "Disgenet " 3676 FGF2 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 3676 FGF2 Nephropathy MONDO_0005240 "Disgenet " 3676 FGF2 Schizophrenias MONDO_0005090 "Disgenet " 3676 FGF2 "Brain Injuries" MONDO_0043510 "Disgenet " 3676 FGF2 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 3676 FGF2 "Gastric ulcer" MONDO_0001126 "Disgenet " 3676 FGF2 Osteopathy MONDO_0005381 "Disgenet " 3676 FGF2 "Idiopathic thrombocythemia" MONDO_0005029 "Disgenet " 3676 FGF2 "Diabetes, Gestational" MONDO_0005406 "Disgenet " 3676 FGF2 "adenocarcinoma of prostate gland" MONDO_0005082 "Disgenet " 3676 FGF2 "Glioma, malignant" MONDO_0100342 "Disgenet " 3676 FGF2 "Fibroses, Oral Submucous" MONDO_0018166 "Disgenet " 3677 FGF20 "Renal agenesis, bilateral" MONDO_0015986 "Disgenet " 3678 FGF21 "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 3678 FGF21 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 3678 FGF21 "High blood pressure" MONDO_0005044 "Disgenet " 3678 FGF21 "Fatty Liver, Alcoholic" MONDO_0021104 "Disgenet " 3678 FGF21 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 3678 FGF21 "Fatty Liver" MONDO_0004790 "Disgenet " 3678 FGF21 Obesity MONDO_0019182 "Disgenet " 3678 FGF21 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 3680 FGF23 "HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT" MONDO_0008660 "Disgenet " 3680 FGF23 "Hypophosphatemic Rickets" MONDO_0000044 "Disgenet " 3680 FGF23 HYPERPHOSPHATEMIA MONDO_0000328 "Disgenet " 3680 FGF23 HFTC MONDO_0100251 "Disgenet " 3683 FGF5 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 3685 FGF7 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 3685 FGF7 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 3685 FGF7 "lung injury" "Disgenet " 3687 FGF9 "multiple synostoses syndrome" MONDO:0017923 "ClinGen " 3687 FGF9 "multiple synostoses syndrome" MONDO_0017923 "Disgenet " 3687 FGF9 "Cleft Palate" MONDO_0016064 "Disgenet " 3687 FGF9 "Lung Neoplasm" MONDO_0002732 "Disgenet " 3687 FGF9 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 3687 FGF9 Adenocarcinoma MONDO_0004970 "Disgenet " 3687 FGF9 "MULTIPLE SYNOSTOSES SYNDROME 3" MONDO_0013064 "Disgenet " 3688 FGFR1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 3688 FGFR1 "Cleft Palate" MONDO_0016064 "Disgenet " 3688 FGFR1 "Myeloid neoplasia" MONDO_0005170 "Disgenet " 3688 FGFR1 Panhypopituitarism MONDO_0019591 "Disgenet " 3688 FGFR1 "Fishman Syndrome" MONDO_0013074 "Disgenet " 3688 FGFR1 JWS MONDO_0007400 "Disgenet " 3688 FGFR1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 3688 FGFR1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 3688 FGFR1 "Cancer, Squamous Cell" MONDO_0002532 "Disgenet " 3688 FGFR1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 3688 FGFR1 Holoprosencephalies MONDO_0016296 "Disgenet " 3688 FGFR1 "Glioma, malignant" MONDO_0100342 "Disgenet " 3688 FGFR1 "Craniosynostosis (metopic suture)" MONDO_0008603 "Disgenet " 3688 FGFR1 trigonocephaly MONDO_0015469 "Disgenet " 3688 FGFR1 Acrocephalosyndactylia MONDO_0019796 "Disgenet " 3688 FGFR1 "Subacute myeloid leukemia" MONDO_0004653 "Disgenet " 3688 FGFR1 "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 3688 FGFR1 "Pilomyxoid astrocytoma" MONDO_0016692 "Disgenet " 3688 FGFR1 "Heart Valve Disease" MONDO_0002869 "Disgenet " 3688 FGFR1 "Syndrome, Pfeiffer" MONDO_0007043 "Disgenet " 3688 FGFR1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3688 FGFR1 "OSTEOGLOPHONIC DYSPLASIA" MONDO_0008150 "Disgenet " 3688 FGFR1 "Septo-optic dysplasia" MONDO_0008428 "Disgenet " 3688 FGFR1 "Pfeiffer syndrome type 1" MONDO:0019659 "ClinGen " 3688 FGFR1 "osteoglophonic dwarfism" MONDO:0008150 "ClinGen " 3688 FGFR1 "Hartsfield-Bixler-Demyer syndrome" MONDO:0014196 "ClinGen " 3688 FGFR1 Glioblastoma MONDO_0018177 "Disgenet " 3688 FGFR1 "Cleft Lip" MONDO_0004747 "Disgenet " 3688 FGFR1 "Normosmic congenital hypogonadotropic hypogonadism" MONDO_0018555 "Disgenet " 3688 FGFR1 "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 3688 FGFR1 "8p11 Stem Cell Leukemia/Lymphoma Syndrome" MONDO_0000884 "Disgenet " 3688 FGFR1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 3688 FGFR1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 3688 FGFR1 Neuroblastoma MONDO_0005072 "Disgenet " 3688 FGFR1 RGNT MONDO_0016736 "Disgenet " 3688 FGFR1 "Hartsfield Syndrome" MONDO_0014196 "Disgenet " 3688 FGFR1 IHH MONDO_0007794 "Disgenet " 3688 FGFR1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3688 FGFR1 "Syndrome, Kallmann's" MONDO_0013961 "Disgenet " 3688 FGFR1 KAL2 MONDO_0018800 "Disgenet " 3688 FGFR1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 3688 FGFR1 Craniosynostosis MONDO_0015469 "Disgenet " 3688 FGFR1 "Hypogonadotropic hypogonadism" MONDO_0014102 "Disgenet " 3688 FGFR1 "Depressive neurosis" MONDO_0002050 "Disgenet " 3688 FGFR1 Gliomas MONDO_0021042 "Disgenet " 3688 FGFR1 Schizophrenias MONDO_0005090 "Disgenet " 3688 FGFR1 Astrocytoma MONDO_0019781 "Disgenet " 3688 FGFR1 "Lymphoma, T Cell" MONDO_0015760 "Disgenet " 3688 FGFR1 Hypopituitarism MONDO_0013961 "Disgenet " 3688 FGFR1 Depression MONDO_0002050 "Disgenet " 3689 FGFR2 "Saethre Chotzen Syndrome" MONDO_0007042 "Disgenet " 3689 FGFR2 "Antley-Bixler Syndrome, Autosomal Dominant" MONDO_0020667 "Disgenet " 3689 FGFR2 "Antley-Bixter syndrome" MONDO_0008803 "Disgenet " 3689 FGFR2 "Abnormalities, Craniofacial" "Disgenet " 3689 FGFR2 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 3689 FGFR2 Acrocephalosyndactylia MONDO_0019796 "Disgenet " 3689 FGFR2 "Lung Neoplasm" MONDO_0002732 "Disgenet " 3689 FGFR2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3689 FGFR2 Cholangiocarcinoma MONDO_0019087 "Disgenet " 3689 FGFR2 "LADD syndrome" MONDO:0007872 "ClinGen " 3689 FGFR2 "Apert syndrome" MONDO:0007041 "ClinGen " 3689 FGFR2 "bent bone dysplasia syndrome 1" MONDO:0013815 "ClinGen " 3689 FGFR2 "Pfeiffer syndrome" MONDO:0007043 "ClinGen " 3689 FGFR2 "Crouzon syndrome" MONDO:0007405 "ClinGen " 3689 FGFR2 "Beare-Stevenson cutis gyrata syndrome" MONDO:0007412 "ClinGen " 3689 FGFR2 "Head and Neck Neoplasms" MONDO_0005586 "Disgenet " 3689 FGFR2 Schizophrenias MONDO_0005090 "Disgenet " 3689 FGFR2 Hydrocephaly MONDO_0001150 "Disgenet " 3689 FGFR2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 3689 FGFR2 "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 3689 FGFR2 "Cleft Palate" MONDO_0016064 "Disgenet " 3689 FGFR2 Depression MONDO_0002050 "Disgenet " 3689 FGFR2 "Depressive neurosis" MONDO_0002050 "Disgenet " 3689 FGFR2 "Syndrome, Pfeiffer" MONDO_0007043 "Disgenet " 3689 FGFR2 JWS MONDO_0007400 "Disgenet " 3689 FGFR2 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 3689 FGFR2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3689 FGFR2 BSTVS MONDO_0007412 "Disgenet " 3689 FGFR2 "Cancer, Breast" MONDO_0007254 "Disgenet " 3689 FGFR2 "Syndrome, Apert" MONDO_0014296 "Disgenet " 3689 FGFR2 "Craniofacial Dysostoses" MONDO_0007405 "Disgenet " 3689 FGFR2 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 3689 FGFR2 Craniosynostosis MONDO_0015469 "Disgenet " 3689 FGFR2 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 3689 FGFR2 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 3689 FGFR2 "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 3689 FGFR2 "carcinoma of stomach (diagnosis)" MONDO_0004950 "Disgenet " 3689 FGFR2 LADD MONDO_0007872 "Disgenet " 3689 FGFR2 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 3689 FGFR2 "CROUZON SYNDROME" MONDO_0007405 "Disgenet " 3689 FGFR2 "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 3689 FGFR2 "CARCINOMA OF ESOPHAGUS" MONDO_0007576 "Disgenet " 3689 FGFR2 "Adenoid cystic carcinoma" MONDO_0003175 "Disgenet " 3689 FGFR2 "breast neoplasm malignant female carcinoma" MONDO_0004379 "Disgenet " 369 AKAP11 Schizophrenias MONDO_0005090 "Disgenet " 369 AKAP11 "Bipolar Disorders" MONDO_0004985 "Disgenet " 3690 FGFR3 Carcinoma MONDO_0004993 "Disgenet " 3690 FGFR3 "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 3690 FGFR3 CRC MONDO_0005335 "Disgenet " 3690 FGFR3 "Cancer, Cervical" MONDO_0002974 "Disgenet " 3690 FGFR3 "Transitional cell neoplasm (morphologic abnormality)" MONDO_0037254 "Disgenet " 3690 FGFR3 "LADD SYNDROME 2" MONDO_0859577 "Disgenet " 3690 FGFR3 TGCT MONDO_0010108 "Disgenet " 3690 FGFR3 LADD MONDO_0007872 "Disgenet " 3690 FGFR3 "Global developmental delay" "Disgenet " 3690 FGFR3 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 3690 FGFR3 "Craniofacial Dysostoses" MONDO_0007405 "Disgenet " 3690 FGFR3 "Bladder transitional cell carcinoma" MONDO_0005611 "Disgenet " 3690 FGFR3 "human papilloma virus infection (diagnosis)" MONDO_0005161 "Disgenet " 3690 FGFR3 "Cleft Palate" MONDO_0016064 "Disgenet " 3690 FGFR3 "thanatophoric dysplasia" MONDO:0017042 "ClinGen " 3690 FGFR3 "severe achondroplasia-developmental delay-acanthosis nigricans syndrome" MONDO:0014658 "ClinGen " 3690 FGFR3 "Muenke syndrome" MONDO:0011274 "ClinGen " 3690 FGFR3 "Crouzon syndrome-acanthosis nigricans syndrome" MONDO:0012833 "ClinGen " 3690 FGFR3 achondroplasia MONDO:0007037 "ClinGen " 3690 FGFR3 hypochondroplasia MONDO:0007793 "ClinGen " 3690 FGFR3 "camptodactyly-tall stature-scoliosis-hearing loss syndrome" MONDO:0012504 "ClinGen " 3690 FGFR3 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 3690 FGFR3 "malignant squamous cell neoplasm of oral cavity (diagnosis)" MONDO_0004958 "Disgenet " 3690 FGFR3 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3690 FGFR3 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 3690 FGFR3 "Keratosis, Seborrheic" MONDO_0008420 "Disgenet " 3690 FGFR3 "Craniosynostosis (coronal)" "Disgenet " 3690 FGFR3 "CARCINOMA OF CERVIX" MONDO_0005131 "Disgenet " 3690 FGFR3 "Acanthosis Nigricans" MONDO_0043003 "Disgenet " 3690 FGFR3 "MUENKE SYNDROME" MONDO_0011274 "Disgenet " 3690 FGFR3 "CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME" MONDO_0012504 "Disgenet " 3690 FGFR3 "Epidermal naevus" MONDO_0008093 "Disgenet " 3690 FGFR3 "Dwarfisms, Thanatophoric" MONDO_0017042 "Disgenet " 3690 FGFR3 Hypochondroplasia MONDO_0007037 "Disgenet " 3690 FGFR3 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 3690 FGFR3 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 3690 FGFR3 "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 3690 FGFR3 Achondroplasia MONDO_0007037 "Disgenet " 3690 FGFR3 "Syndrome, Skeleton-Skin-Brain" MONDO_0014658 "Disgenet " 3690 FGFR3 "CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS" MONDO_0012833 "Disgenet " 3690 FGFR3 TD MONDO_0008546 "Disgenet " 3690 FGFR3 Craniosynostosis MONDO_0015469 "Disgenet " 3690 FGFR3 "Saethre Chotzen Syndrome" MONDO_0007042 "Disgenet " 3690 FGFR3 "FGFR3-related chondrodysplasia" MONDO_0019685 "Disgenet " 3690 FGFR3 "Unspecified congenital anomaly of brain, spinal cord, and nervous system" MONDO_0002320 "Disgenet " 3690 FGFR3 TD2 MONDO_0008547 "Disgenet " 3690 FGFR3 "Skeletal dysplasia" MONDO_0018230 "Disgenet " 3690 FGFR3 "Multiple Myeloma" MONDO_0009693 "Disgenet " 3690 FGFR3 "CARCINOMA OF BLADDER" MONDO_0004986 "Disgenet " 3691 FGFR4 Rhabdomyosarcoma MONDO_0005212 "Disgenet " 3691 FGFR4 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 3691 FGFR4 "malignant squamous cell neoplasm of oral cavity (diagnosis)" MONDO_0004958 "Disgenet " 3691 FGFR4 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 3691 FGFR4 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 3691 FGFR4 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3691 FGFR4 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 3691 FGFR4 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3691 FGFR4 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 3691 FGFR4 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 3691 FGFR4 "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 3691 FGFR4 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 3691 FGFR4 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 3693 FGFRL1 "Congenital diaphragmatic hernia" MONDO_0007719 "Disgenet " 3693 FGFRL1 "Deletion of short arm of chromosome 4" MONDO_0008684 "Disgenet " 3694 FGG "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 3694 FGG "Familial hypofibrinogenemia" MONDO_0015096 "Disgenet " 3694 FGG "Multiple Myeloma" MONDO_0009693 "Disgenet " 3694 FGG "Congenital dysfibrinogenemia" MONDO_0014452 "Disgenet " 3694 FGG Hypofibrinogenemia "Disgenet " 3694 FGG "HYPOFIBRINOGENEMIA, CONGENITAL" MONDO_0008737 "Disgenet " 3694 FGG "congenital fibrinogen deficiency" MONDO:0018060 "ClinGen " 3694 FGG Thrombocytopenia MONDO_0002049 "Disgenet " 3694 FGG Hypodysfibrinogenaemia MONDO_0016638 "Disgenet " 3694 FGG "congenital fibrinogen deficiency" MONDO_0018060 "Disgenet " 3694 FGG Afibrinogenemia MONDO_0008737 "Disgenet " 37 ABCA7 "Alzheimer Disease" MONDO_0012630 "Disgenet " 37 ABCA7 "Frontotemporal dementia" MONDO_0017276 "Disgenet " 370 AKAP12 CRC MONDO_0005335 "Disgenet " 370 AKAP12 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3700 FH HLRCC MONDO_0007888 "Disgenet " 3700 FH "FUMARASE DEFICIENCY" MONDO_0011730 "Disgenet " 3700 FH "hereditary leiomyomatosis and renal cell cancer" MONDO:0007888 "ClinGen " 3701 FHIT "Liver Neoplasm" MONDO_0002691 "Disgenet " 3701 FHIT "Oral Cancer" MONDO_0023644 "Disgenet " 3701 FHIT "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 3701 FHIT "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3701 FHIT "Carcinomas, Infiltrating Duct" MONDO_0005590 "Disgenet " 3701 FHIT "Breast cancer (ductal)" MONDO_0004953 "Disgenet " 3701 FHIT "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 3701 FHIT Epithelioma MONDO_0004993 "Disgenet " 3701 FHIT Carcinoma MONDO_0004993 "Disgenet " 3701 FHIT "Renal cell carcinoma" MONDO_0005549 "Disgenet " 3701 FHIT "Lung Neoplasm" MONDO_0002732 "Disgenet " 3701 FHIT "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 3701 FHIT "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 3701 FHIT "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 3701 FHIT "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 3702 FHL1 "Reducing-body myopathy" MONDO_0019948 "Disgenet " 3702 FHL1 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 3702 FHL1 "MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY" MONDO_0010401 "Disgenet " 3702 FHL1 RBMX1A MONDO_0010414 "Disgenet " 3702 FHL1 "REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET" MONDO_0010415 "Disgenet " 3703 FHL2 Cardiomyopathy MONDO_0004994 "Disgenet " 3703 FHL2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3703 FHL2 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 3703 FHL2 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 3705 FIBP TROFAS MONDO_0014918 "Disgenet " 3706 ATP8B1 "Cholestasis of pregnancy" MONDO_0100429 "Disgenet " 3706 ATP8B1 BRIC1 MONDO_0019008 "Disgenet " 3706 ATP8B1 "Biliary Stases, Intrahepatic" MONDO_0019072 "Disgenet " 3706 ATP8B1 PFIC1 MONDO_0015762 "Disgenet " 3706 ATP8B1 "Byler's syndrome" MONDO_0015762 "Disgenet " 3706 ATP8B1 ICP1 MONDO_0007829 "Disgenet " 3706 ATP8B1 PFIC2 MONDO_0011156 "Disgenet " 3708 VEGFD "Damage, Reperfusion" MONDO_0005203 "Disgenet " 3720 FKBP4 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 3720 FKBP4 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 3721 FKBP5 "Unspecified nonorganic psychosis" "Disgenet " 3721 FKBP5 "Heroin Dependence" MONDO_0005367 "Disgenet " 3721 FKBP5 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 3721 FKBP5 "Affective Disorders" MONDO_0005371 "Disgenet " 3721 FKBP5 Psychosis MONDO_0005485 "Disgenet " 3721 FKBP5 "Bipolar Disorders" MONDO_0004985 "Disgenet " 3721 FKBP5 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 3721 FKBP5 Depression MONDO_0002050 "Disgenet " 3721 FKBP5 "Major depressive disorder, single episode, unspecified degree" MONDO_0002050 "Disgenet " 3721 FKBP5 "Depressive neurosis" MONDO_0002050 "Disgenet " 3721 FKBP5 Alcoholism MONDO_0002046 "Disgenet " 3721 FKBP5 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 3721 FKBP5 Asthma MONDO_0004979 "Disgenet " 37216 LIPT2 "mitochondrial disease" MONDO:0044970 "ClinGen " 37227 KBTBD13 "nemaline myopathy 6" MONDO:0012237 "ClinGen " 37227 KBTBD13 "NEMALINE MYOPATHY 6" MONDO_0012237 "Disgenet " 37227 KBTBD13 "Myopathies, Nemaline" MONDO_0018958 "Disgenet " 37234 TMEM231 Ciliopathies MONDO_0005308 "Disgenet " 37234 TMEM231 CPD4 MONDO_0018772 "Disgenet " 37234 TMEM231 "Meckel-Gruber syndrome" MONDO_0018921 "Disgenet " 37234 TMEM231 "JOUBERT SYNDROME 20" MONDO_0013994 "Disgenet " 37234 TMEM231 ciliopathy MONDO:0005308 "ClinGen " 37276 CRPPA "myopathy caused by variation in CRPPA" MONDO:0100530 "ClinGen " 37276 CRPPA Myopathy MONDO_0003939 "Disgenet " 37276 CRPPA "Walker-Warburg congenital muscular dystrophy" MONDO_0000171 "Disgenet " 37276 CRPPA MDDGA7 MONDO_0013835 "Disgenet " 37276 CRPPA "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 37276 CRPPA alpha-Dystroglycanopathies MONDO_0000171 "Disgenet " 37276 CRPPA "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7" MONDO_0014474 "Disgenet " 3749 FLI1 "bleeding disorder, platelet-type, 21" MONDO:0054577 "ClinGen " 3749 FLI1 "Blood Platelet Disorder" MONDO_0002245 "Disgenet " 3749 FLI1 TCPT MONDO_0008557 "Disgenet " 3749 FLI1 "Ewing's sarcoma" MONDO_0012817 "Disgenet " 3749 FLI1 Thrombocytopenia MONDO_0002049 "Disgenet " 3749 FLI1 "Neuroectodermal Tumors, Peripheral" MONDO_0018271 "Disgenet " 3749 FLI1 "Neuroectodermal Tumor, Primitive" MONDO_0005462 "Disgenet " 3749 FLI1 "JACOBSEN SYNDROME" MONDO_0007838 "Disgenet " 3754 FLNA Omphaloceles MONDO_0019015 "Disgenet " 3754 FLNA "CARDIAC VALVULAR DYSPLASIA, X-LINKED" MONDO_0010753 "Disgenet " 3754 FLNA "OTOPALATODIGITAL SPECTRUM DISORDER" MONDO_0018233 "Disgenet " 3754 FLNA "Frontometaphyseal dysplasia" MONDO_0015942 "Disgenet " 3754 FLNA Epilepsies MONDO_0005027 "Disgenet " 3754 FLNA "Breast Neoplasms" MONDO_0021100 "Disgenet " 3754 FLNA "Click-Murmur Syndrome, Mitral" MONDO_0004910 "Disgenet " 3754 FLNA "periventricular nodular heterotopia" MONDO:0020341 "ClinGen " 3754 FLNA "familial thoracic aortic aneurysm and aortic dissection" MONDO:0019625 "ClinGen " 3754 FLNA CIIP MONDO_0010232 "Disgenet " 3754 FLNA Osteochondrodysplasia MONDO_0005516 "Disgenet " 3754 FLNA "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 3754 FLNA Thrombocytopenia MONDO_0002049 "Disgenet " 3754 FLNA "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 3754 FLNA "Periventricular neuronal heterotopia" MONDO_0020341 "Disgenet " 3754 FLNA "Melnick Needles Syndrome" MONDO_0010650 "Disgenet " 3754 FLNA FPO MONDO_0010571 "Disgenet " 3754 FLNA OPD1 MONDO_0010704 "Disgenet " 3754 FLNA FGS MONDO_0010590 "Disgenet " 3754 FLNA "Genitalia external ambiguous" MONDO_0002145 "Disgenet " 3754 FLNA "Ehlers Danlos Syndrome" MONDO_0020066 "Disgenet " 3754 FLNA "Phyllodes Tumor" MONDO_0015871 "Disgenet " 3754 FLNA "Connective Tissue Diseases" MONDO_0003900 "Disgenet " 3754 FLNA Macrothrombocytopenia "Disgenet " 3754 FLNA "CONGENITAL SHORT BOWEL SYNDROME" MONDO_0002803 "Disgenet " 3754 FLNA FMD1 MONDO_0024550 "Disgenet " 3754 FLNA PVNH1 MONDO_0010233 "Disgenet " 3755 FLNB "ATELOSTEOGENESIS, TYPE III" MONDO_0000389 "Disgenet " 3755 FLNB "ATELOSTEOGENESIS, TYPE I" MONDO_0000389 "Disgenet " 3755 FLNB "BOOMERANG DYSPLASIA" MONDO_0007208 "Disgenet " 3755 FLNB Osteochondrodysplasia MONDO_0005516 "Disgenet " 3755 FLNB Clubfoot MONDO_0007342 "Disgenet " 3755 FLNB Atelosteogenesis MONDO_0000389 "Disgenet " 3755 FLNB "Cancer, Breast" MONDO_0007254 "Disgenet " 3755 FLNB "Larsen's syndrome" MONDO_0007875 "Disgenet " 3755 FLNB "SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME" MONDO_0010094 "Disgenet " 3756 FLNC Cardiomyopathy MONDO_0004994 "Disgenet " 3756 FLNC "Myofibrillar myopathy" MONDO_0018943 "Disgenet " 3756 FLNC "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 3756 FLNC "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 3756 FLNC "myofibrillar myopathy" MONDO:0018943 "ClinGen " 3756 FLNC "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 3756 FLNC "Filaminopathy, autosomal dominant" MONDO_0012289 "Disgenet " 3756 FLNC "Restrictive cardiomyopathy" MONDO_0005201 "Disgenet " 3756 FLNC MPD4 MONDO_0013550 "Disgenet " 3756 FLNC CMH26 MONDO_0014883 "Disgenet " 3756 FLNC "Arrhythmogenic right ventricular dysplasia" MONDO_0016587 "Disgenet " 3756 FLNC "Myopathies, Nemaline" MONDO_0018958 "Disgenet " 376 AKAP6 CRC MONDO_0005335 "Disgenet " 376 AKAP6 "Anorexia Nervosa" MONDO_0005351 "Disgenet " 3762 FLRT3 "HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA" MONDO_0014107 "Disgenet " 3762 FLRT3 "Syndrome, Kallmann's" MONDO_0013961 "Disgenet " 3763 FLT1 Angiosarcomas MONDO_0016982 "Disgenet " 3763 FLT1 "EMD - Exudative macular degeneration" MONDO_0005417 "Disgenet " 3763 FLT1 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 3763 FLT1 "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 3763 FLT1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 3763 FLT1 "Bronchopulmonary Dysplasia" MONDO_0019091 "Disgenet " 3763 FLT1 Melanoma MONDO_0005105 "Disgenet " 3763 FLT1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 3763 FLT1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3763 FLT1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 3765 FLT3 "Precursor T-cell lymphoblastic leukaemia" MONDO_0020512 "Disgenet " 3765 FLT3 "Acute myelomonocytic leukemia" MONDO_0018871 "Disgenet " 3765 FLT3 "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 3765 FLT3 "Precursor Cell Lymphoblastic Leukemia-Lymphoma" MONDO_0004967 "Disgenet " 3765 FLT3 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 3765 FLT3 ALL MONDO_0004967 "Disgenet " 3765 FLT3 Leukocytoses "Disgenet " 3765 FLT3 "Acute Myeloid Leukemia, Minimally Differentiated" MONDO_0005223 "Disgenet " 3765 FLT3 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3765 FLT3 "Multiple Myeloma" MONDO_0009693 "Disgenet " 3766 FLT3LG Gliomas MONDO_0021042 "Disgenet " 3766 FLT3LG Glioblastoma MONDO_0018177 "Disgenet " 3767 FLT4 Lymphedema MONDO_0019297 "Disgenet " 3767 FLT4 CHTD7 MONDO_0032913 "Disgenet " 3767 FLT4 hypernephroma MONDO_0005086 "Disgenet " 3767 FLT4 "Fallot Tetralogy" MONDO_0008542 "Disgenet " 3767 FLT4 "Melanoma metastatic" MONDO_0005191 "Disgenet " 3767 FLT4 "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 3767 FLT4 "congenital heart defects, multiple types, 7" MONDO:0032913 "ClinGen " 3767 FLT4 "lymphatic malformation 1" MONDO:0007919 "ClinGen " 3767 FLT4 "Milroys Disease" MONDO_0019313 "Disgenet " 3771 FMO3 TRIMETHYLAMINURIA MONDO_0018767 "Disgenet " 3771 FMO3 "High blood pressure" MONDO_0005044 "Disgenet " 3771 FMO3 trimethylaminuria MONDO:0011182 "ClinGen " 3773 FMO5 "congenital heart disease" MONDO:0005453 "ClinGen " 3775 FMR1 "fragile X syndrome" MONDO:0010383 "ClinGen " 3775 FMR1 Deformity "Disgenet " 3775 FMR1 Schizophrenias MONDO_0005090 "Disgenet " 3775 FMR1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 3775 FMR1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 3775 FMR1 "Autistic behaviors" "Disgenet " 3775 FMR1 "Childhood autism" MONDO_0005260 "Disgenet " 3775 FMR1 "FRAGILE X TREMOR/ATAXIA SYNDROME" MONDO_0010382 "Disgenet " 3775 FMR1 "Fragile X Syndrome" MONDO_0010383 "Disgenet " 3775 FMR1 POF1 MONDO_0005387 "Disgenet " 3775 FMR1 "Primary ovarian failure" MONDO_0005387 "Disgenet " 3775 FMR1 "Anxiety Disorder" MONDO_0005618 "Disgenet " 3775 FMR1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 3775 FMR1 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 3776 AFF2 "non-syndromic X-linked intellectual disability" MONDO:0019181 "ClinGen " 3776 AFF2 "FRAXE Syndrome" MONDO_0010659 "Disgenet " 3776 AFF2 "FRAXE intellectual disability syndrome" MONDO_0010659 "Disgenet " 3776 AFF2 "Primary ovarian failure" MONDO_0005387 "Disgenet " 3776 AFF2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 3776 AFF2 "Moderate mental retardation" "Disgenet " 3776 AFF2 "Fragile X Syndrome" MONDO_0010383 "Disgenet " 3778 FN1 "Cancer, Breast" MONDO_0007254 "Disgenet " 3778 FN1 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 3778 FN1 "High blood pressure" MONDO_0005044 "Disgenet " 3778 FN1 "SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE" MONDO_0016763 "Disgenet " 3778 FN1 "Glomerulopathy with fibronectin deposits" MONDO_0007671 "Disgenet " 3778 FN1 CRC MONDO_0005335 "Disgenet " 3778 FN1 Carcinoma MONDO_0004993 "Disgenet " 3778 FN1 "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 3778 FN1 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 3778 FN1 "spondylometaphyseal dysplasia, 'corner fracture' type" MONDO:0008479 "ClinGen " 3778 FN1 "glomerulopathy with fibronectin deposits 2" MONDO:0011165 "ClinGen " 3778 FN1 "Mesothelioma, malignant" MONDO_0006292 "Disgenet " 3778 FN1 Epithelioma MONDO_0004993 "Disgenet " 3778 FN1 Glioblastoma MONDO_0018177 "Disgenet " 3778 FN1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3778 FN1 "Chronic renal disease" MONDO_0005300 "Disgenet " 3778 FN1 "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 3778 FN1 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 3778 FN1 "Spondylometaphyseal dysplasia" MONDO_0016763 "Disgenet " 3788 FOLH1 CRC MONDO_0005335 "Disgenet " 3788 FOLH1 Schizophrenias MONDO_0005090 "Disgenet " 3788 FOLH1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 379 AKAP9 "Long QT Syndrome" MONDO_0002442 "Disgenet " 379 AKAP9 "Arrest, Heart" MONDO_0000745 "Disgenet " 379 AKAP9 CRC MONDO_0005335 "Disgenet " 379 AKAP9 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 379 AKAP9 "Inherited long QT syndrome" MONDO_0019171 "Disgenet " 379 AKAP9 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 379 AKAP9 LQT11 MONDO_0012738 "Disgenet " 379 AKAP9 "long QT syndrome" MONDO:0002442 "ClinGen " 3791 FOLR1 "neurodegenerative syndrome due to cerebral folate transport deficiency" MONDO:0013110 "ClinGen " 3791 FOLR1 "NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY" MONDO_0013110 "Disgenet " 3791 FOLR1 Deformity "Disgenet " 3791 FOLR1 Epilepsies MONDO_0005027 "Disgenet " 3791 FOLR1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 3791 FOLR1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 3796 FOS "High blood pressure" MONDO_0005044 "Disgenet " 3796 FOS Epilepsies MONDO_0005027 "Disgenet " 3796 FOS "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3796 FOS "Lung Neoplasm" MONDO_0002732 "Disgenet " 3796 FOS "Anxiety Disorder" MONDO_0005618 "Disgenet " 3796 FOS "Breast Neoplasms" MONDO_0021100 "Disgenet " 3796 FOS Obesity MONDO_0019182 "Disgenet " 3796 FOS "Brain Injuries" MONDO_0043510 "Disgenet " 3796 FOS Endometrioses MONDO_0005133 "Disgenet " 3796 FOS "Bone Fibrous Dysplasia" MONDO_0000845 "Disgenet " 3796 FOS "Status Epilepticus" MONDO_0002125 "Disgenet " 3796 FOS neurotoxicity MONDO_0005527 "Disgenet " 3796 FOS "OVARIAN CANCER, EPITHELIAL" MONDO_0018364 "Disgenet " 3796 FOS "Damage, Reperfusion" MONDO_0005203 "Disgenet " 3796 FOS "Familial generalized lipodystrophy" MONDO_0006536 "Disgenet " 3797 FOSB Epilepsies MONDO_0005027 "Disgenet " 3797 FOSB "Lung Neoplasm" MONDO_0002732 "Disgenet " 3797 FOSB "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3797 FOSB "Pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma (morphologic abnormality)" "Disgenet " 3797 FOSB "Liver Neoplasm" MONDO_0002691 "Disgenet " 3798 FOSL2 "Lung Neoplasm" MONDO_0002732 "Disgenet " 38 ABCA8 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 38 ABCA8 "Breast Neoplasms" MONDO_0021100 "Disgenet " 380 AKR1A1 Schizophrenias MONDO_0005090 "Disgenet " 380 AKR1A1 carcinogenesis "Disgenet " 380 AKR1A1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 380 AKR1A1 Alcoholism MONDO_0002046 "Disgenet " 380 AKR1A1 "Abuse, Alcohol" MONDO_0002046 "Disgenet " 380 AKR1A1 "Alcoholic Intoxication" "Disgenet " 3800 FOXC1 "Peters anomaly" MONDO_0011414 "Disgenet " 3800 FOXC1 "Dandy Walker Syndrome" MONDO_0009072 "Disgenet " 3800 FOXC1 "Juvenile glaucoma" MONDO_0020367 "Disgenet " 3800 FOXC1 "Axenfeld-Rieger syndrome" MONDO_0019187 "Disgenet " 3800 FOXC1 ASMD MONDO_0019503 "Disgenet " 3800 FOXC1 Aniridia MONDO_0007119 "Disgenet " 3800 FOXC1 "Axenfeld anomaly" MONDO_0019187 "Disgenet " 3800 FOXC1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3800 FOXC1 "AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES" MONDO_0007180 "Disgenet " 3800 FOXC1 Cakut MONDO_0019719 "Disgenet " 3800 FOXC1 "anterior segment dysgenesis 3" MONDO:0024456 "ClinGen " 3800 FOXC1 Glaucomas MONDO_0005041 "Disgenet " 3800 FOXC1 "Rieger syndrome" MONDO_0019187 "Disgenet " 3800 FOXC1 "AXENFELD-RIEGER SYNDROME, TYPE 3" MONDO_0011233 "Disgenet " 3800 FOXC1 IHG MONDO_0011119 "Disgenet " 3801 FOXC2 "LYMPHEDEMA-DISTICHIASIS SYNDROME" MONDO_0007922 "Disgenet " 3801 FOXC2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 3801 FOXC2 Obesity MONDO_0019182 "Disgenet " 3801 FOXC2 Lymphedema MONDO_0019297 "Disgenet " 3801 FOXC2 Blepharoptoses MONDO_0000728 "Disgenet " 3801 FOXC2 "lymphedema-distichiasis syndrome" MONDO:0007922 "ClinGen " 3804 FOXD3 aniridia MONDO:0019172 "ClinGen " 3804 FOXD3 Vitiligo MONDO_0008661 "Disgenet " 3809 FOXF1 "Alveolar/capillary dysplasia" MONDO_0009934 "Disgenet " 3809 FOXF1 "VATER/VACTERL ASSOCIATION" MONDO_0008642 "Disgenet " 3809 FOXF1 "Persistent Fetal Circulation Syndrome" MONDO_0022430 "Disgenet " 381 AKR1B1 "Diabetic Neuropathies" MONDO_0006626 "Disgenet " 381 AKR1B1 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 381 AKR1B1 "Disorder associated with diabetes mellitus" "Disgenet " 381 AKR1B1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 381 AKR1B1 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 3810 FOXF2 "Cerebrovascular accident" MONDO_0005098 "Disgenet " 3816 FOXJ1 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 3816 FOXJ1 "ciliary dyskinesia, primary, 43" MONDO:0032874 "ClinGen " 3816 FOXJ1 "CILIARY DYSKINESIA, PRIMARY, 43" MONDO_0032874 "Disgenet " 3817 FOXL1 "congenital heart disease" MONDO:0005453 "ClinGen " 3818 FOXM1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3818 FOXM1 Leukemias MONDO_0005059 "Disgenet " 3818 FOXM1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 3818 FOXM1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 3818 FOXM1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 3819 FOXO1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3819 FOXO1 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 3819 FOXO1 "Alveolar rhabdomyosarcoma" MONDO_0009994 "Disgenet " 3819 FOXO1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 3819 FOXO1 Keratoconus MONDO_0015486 "Disgenet " 382 AKR1B10 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 382 AKR1B10 Melanoma MONDO_0005105 "Disgenet " 382 AKR1B10 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 382 AKR1B10 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3821 FOXO3 Obesity MONDO_0019182 "Disgenet " 3821 FOXO3 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 3821 FOXO3 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 3821 FOXO3 COPD MONDO_0005002 "Disgenet " 3821 FOXO3 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 3823 FOXP1 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 3823 FOXP1 "Intellectual disability, severe speech delay, mild dysmorphism syndrome" MONDO_0013352 "Disgenet " 3823 FOXP1 "adenocarcinoma of esophagus (diagnosis)" MONDO_0005028 "Disgenet " 3823 FOXP1 Schizophrenias MONDO_0005090 "Disgenet " 3823 FOXP1 "MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES" MONDO_0013352 "Disgenet " 3823 FOXP1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 3823 FOXP1 "Barrett Esophagus" MONDO_0013662 "Disgenet " 3823 FOXP1 "congenital heart disease" MONDO:0005453 "ClinGen " 3823 FOXP1 "intellectual disability-severe speech delay-mild dysmorphism syndrome" MONDO:0013352 "ClinGen " 3823 FOXP1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 3823 FOXP1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 3823 FOXP1 "Childhood autism" MONDO_0005260 "Disgenet " 3823 FOXP1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 3823 FOXP1 "Familial primary gastric lymphoma" MONDO_0007650 "Disgenet " 3824 FPGS ALL MONDO_0004967 "Disgenet " 3824 FPGS "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 3824 FPGS "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3824 FPGS "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 3826 FPR1 Periodontitides MONDO_0005593 "Disgenet " 384 AKR1C1 Endometrioses MONDO_0005133 "Disgenet " 384 AKR1C1 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 384 AKR1C1 "Ovary Syndrome, Polycystic" MONDO_0008487 "Disgenet " 384 AKR1C1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 385 AKR1C2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 385 AKR1C2 "46,XY SEX REVERSAL 8" MONDO_0013664 "Disgenet " 386 AKR1C3 Alcoholism MONDO_0002046 "Disgenet " 386 AKR1C3 "Hormone Dependent Neoplasms" "Disgenet " 386 AKR1C3 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 386 AKR1C3 Endometrioses MONDO_0005133 "Disgenet " 386 AKR1C3 "Prostatic Cancers, Androgen-Independent" MONDO_0850353 "Disgenet " 386 AKR1C3 "Neoplasm, Castration-Resistant Prostatic" MONDO_0850353 "Disgenet " 386 AKR1C3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 386 AKR1C3 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 386 AKR1C3 "Ovary Syndrome, Polycystic" MONDO_0008487 "Disgenet " 386 AKR1C3 Leukemias MONDO_0005059 "Disgenet " 391 AKT1 CWS6 MONDO_0014048 "Disgenet " 391 AKT1 "Cowden syndrome 6" MONDO:0014048 "ClinGen " 391 AKT1 "Bladder transitional cell carcinoma" MONDO_0005611 "Disgenet " 391 AKT1 "Lymphoma, T Cell" MONDO_0015760 "Disgenet " 391 AKT1 Cardiomyopathy MONDO_0004994 "Disgenet " 391 AKT1 Hypertriglyceridemia MONDO_0005347 "Disgenet " 391 AKT1 "Carcinomas, Infiltrating Duct" MONDO_0005590 "Disgenet " 391 AKT1 "Adenomatous Polyposis Coli" MONDO_0021056 "Disgenet " 391 AKT1 Meningiomas MONDO_0016642 "Disgenet " 391 AKT1 Melanoma MONDO_0005105 "Disgenet " 391 AKT1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 391 AKT1 "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 391 AKT1 Obesity MONDO_0019182 "Disgenet " 391 AKT1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 391 AKT1 "Neoplasm, Thyroid" MONDO_0015074 "Disgenet " 391 AKT1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 391 AKT1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 391 AKT1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 391 AKT1 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 391 AKT1 "Osteosarcoma of Bone" MONDO_0002629 "Disgenet " 391 AKT1 "Parkinson Disease" MONDO_0014796 "Disgenet " 391 AKT1 "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 391 AKT1 carcinogenesis "Disgenet " 391 AKT1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 391 AKT1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 391 AKT1 "Proteus Syndrome" MONDO_0008318 "Disgenet " 391 AKT1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 391 AKT1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 391 AKT1 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 391 AKT1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 391 AKT1 "Cancer, Breast" MONDO_0007254 "Disgenet " 391 AKT1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 391 AKT1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 391 AKT1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 391 AKT1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 391 AKT1 Schizophrenias MONDO_0005090 "Disgenet " 391 AKT1 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 391 AKT1 Adenocarcinoma MONDO_0004970 "Disgenet " 391 AKT1 "Abuse, Marihuana" MONDO_0005689 "Disgenet " 391 AKT1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 391 AKT1 Epilepsies MONDO_0005027 "Disgenet " 391 AKT1 "Neoplasm, Skin" MONDO_0002531 "Disgenet " 391 AKT1 "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 391 AKT1 "Affective Disorders" MONDO_0005371 "Disgenet " 391 AKT1 "adenocarcinoma of breast (diagnosis)" MONDO_0004988 "Disgenet " 391 AKT1 "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 391 AKT1 "Cancer, Squamous Cell" MONDO_0002532 "Disgenet " 391 AKT1 "Malignant melanoma of skin" MONDO_0005012 "Disgenet " 391 AKT1 "adenocarcinoma of prostate gland" MONDO_0005082 "Disgenet " 391 AKT1 "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 391 AKT1 "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 391 AKT1 "Depressive neurosis" MONDO_0002050 "Disgenet " 391 AKT1 "Cowdens Disease" MONDO_0008021 "Disgenet " 391 AKT1 "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 391 AKT1 "Fatty Liver" MONDO_0004790 "Disgenet " 391 AKT1 Depression MONDO_0002050 "Disgenet " 392 AKT2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 392 AKT2 "CARCINOMA OF PROSTATE" MONDO_0005159 "Disgenet " 392 AKT2 Hypoglycemia MONDO_0004946 "Disgenet " 392 AKT2 Endometrium MONDO_0011962 "Disgenet " 392 AKT2 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 392 AKT2 "Koberling Dunnigan Syndrome" MONDO_0020088 "Disgenet " 392 AKT2 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 392 AKT2 "OVARIAN CANCER, EPITHELIAL" MONDO_0018364 "Disgenet " 392 AKT2 HIHGHH MONDO_0009416 "Disgenet " 392 AKT2 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 392 AKT2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 392 AKT2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 392 AKT2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 393 AKT3 Melanoma MONDO_0005105 "Disgenet " 393 AKT3 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 393 AKT3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 393 AKT3 "Megalencephaly cutis marmorata telangiectatica congenita" MONDO_0011240 "Disgenet " 393 AKT3 Glioblastoma MONDO_0018177 "Disgenet " 393 AKT3 microcephaly MONDO:0001149 "ClinGen " 393 AKT3 "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes" MONDO:0100283 "ClinGen " 393 AKT3 hemimegalencephaly MONDO_0020492 "Disgenet " 393 AKT3 Polymicrogyria MONDO_0000087 "Disgenet " 393 AKT3 "Global developmental delay" "Disgenet " 393 AKT3 "Glioblastoma multiforme" MONDO_0018177 "Disgenet " 3942 MTOR "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 3942 MTOR "Depressions, Unipolar" MONDO_0002050 "Disgenet " 3942 MTOR "Lymphatic Metastases" "Disgenet " 3942 MTOR "Malignant melanoma of skin" MONDO_0005012 "Disgenet " 3942 MTOR "Melanoma metastatic" MONDO_0005191 "Disgenet " 3942 MTOR "Bladder transitional cell carcinoma" MONDO_0005611 "Disgenet " 3942 MTOR "Primary Glioblastoma" MONDO_0018177 "Disgenet " 3942 MTOR "mucinous adenocarcinoma of ovary (diagnosis)" MONDO_0005601 "Disgenet " 3942 MTOR "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 3942 MTOR "carcinoma of kidney" MONDO_0005206 "Disgenet " 3942 MTOR "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 3942 MTOR "Renal angiomyolipoma" MONDO_0004555 "Disgenet " 3942 MTOR "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 3942 MTOR "Overgrowth Syndrome" MONDO_0019716 "Disgenet " 3942 MTOR "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 3942 MTOR neurotoxicity MONDO_0005527 "Disgenet " 3942 MTOR "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 3942 MTOR "Cervical Neoplasm" MONDO_0021230 "Disgenet " 3942 MTOR FCDT MONDO_0011818 "Disgenet " 3942 MTOR "SMITH-KINGSMORE SYNDROME" MONDO_0014716 "Disgenet " 3942 MTOR "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 3942 MTOR "Glioblastoma multiforme" MONDO_0018177 "Disgenet " 3942 MTOR "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 3942 MTOR hemimegalencephaly MONDO_0020492 "Disgenet " 3942 MTOR "Breast Neoplasms" MONDO_0021100 "Disgenet " 3942 MTOR "Renal cell carcinoma" MONDO_0005549 "Disgenet " 3942 MTOR "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 3942 MTOR "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 3942 MTOR Glioblastoma MONDO_0018177 "Disgenet " 3942 MTOR "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 3942 MTOR "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 3942 MTOR "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3942 MTOR "High blood pressure" MONDO_0005044 "Disgenet " 3942 MTOR "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 3942 MTOR "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 3942 MTOR "Centrocytic Small-Cell Lymphoma" MONDO_0018876 "Disgenet " 3942 MTOR Schizophrenias MONDO_0005090 "Disgenet " 3942 MTOR Adenocarcinoma MONDO_0004970 "Disgenet " 3942 MTOR "Polycystic kidney" MONDO_0020642 "Disgenet " 3942 MTOR "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 3942 MTOR Mesothelioma MONDO_0005065 "Disgenet " 3942 MTOR "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes" MONDO:0100283 "ClinGen " 3942 MTOR "Hypertrophy, Left Ventricular" "Disgenet " 395 ALAD "Porphyria cutanea tarda" MONDO_0008296 "Disgenet " 395 ALAD "Porphobilinogen synthase deficiency" MONDO_0013000 "Disgenet " 395 ALAD "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 395 ALAD "Diseases, Liver" MONDO_0005154 "Disgenet " 395 ALAD "Hepatic Porphyrias" MONDO_0002520 "Disgenet " 395 ALAD "High blood pressure" MONDO_0005044 "Disgenet " 395 ALAD Meningiomas MONDO_0016642 "Disgenet " 395 ALAD "porphyria due to ALA dehydratase deficiency" MONDO:0013000 "ClinGen " 395 ALAD "Lead Poisoning" MONDO_0018019 "Disgenet " 3951 FXN "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 3951 FXN "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 3951 FXN "Friedreich ataxia" MONDO:0100339 "ClinGen " 3951 FXN "Disease, Friedreich" MONDO_0100340 "Disgenet " 3951 FXN "FRIEDREICH ATAXIA 1" MONDO_0100340 "Disgenet " 3953 NCS1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 3953 NCS1 Schizophrenias MONDO_0005090 "Disgenet " 3959 FRZB "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 3959 FRZB "Arthritides, Degenerative" MONDO_0005178 "Disgenet " 396 ALAS1 Porphyria MONDO_0037939 "Disgenet " 3960 FSCN2 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 3960 FSCN2 "Degeneration, Macular" MONDO_0003004 "Disgenet " 3969 FSHR "Gonadal Dysgenesis" MONDO_0001967 "Disgenet " 3969 FSHR "Ovarian dysgenesis" "Disgenet " 3969 FSHR ODG1 MONDO_0024463 "Disgenet " 3969 FSHR "Ovary Syndrome, Polycystic" MONDO_0008487 "Disgenet " 3969 FSHR "Hyperstimulation Syndrome, Ovarian" MONDO_0011972 "Disgenet " 3971 FST "Liver cell carcinoma" MONDO_0007256 "Disgenet " 3971 FST "Liver Neoplasm" MONDO_0002691 "Disgenet " 3971 FST "Breast Neoplasms" MONDO_0021100 "Disgenet " 3971 FST "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 3971 FST "Liver Failure, Acute" MONDO_0019542 "Disgenet " 3971 FST "Ovary Syndrome, Polycystic" MONDO_0008487 "Disgenet " 3974 FTCD "Glutamate formiminotransferase deficiency" MONDO_0009240 "Disgenet " 3976 FTH1 Gliomas MONDO_0021042 "Disgenet " 3976 FTH1 "Degenerative disease of nervous system, unspecified" MONDO_0005559 "Disgenet " 3976 FTH1 "Neurodegeneration with brain iron accumulation (NBIA)" MONDO_0018307 "Disgenet " 3976 FTH1 "Iron Overload" "Disgenet " 3976 FTH1 "Iron Overload, Autosomal Dominant" MONDO_0014225 "Disgenet " 399 ALB "Rhinitis, Allergic, Perennial" MONDO_0024332 "Disgenet " 399 ALB "hyperthyroxinemia, familial dysalbuminemic" MONDO:0014448 "ClinGen " 399 ALB "congenital analbuminemia" MONDO:0014449 "ClinGen " 399 ALB "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 399 ALB "EUTHYROID HYPERTHYROXINEMIA 1" MONDO_0014448 "Disgenet " 399 ALB "Congenital analbuminemia (disorder)" MONDO_0014449 "Disgenet " 399 ALB "Respiratory Distress Syndrome, Adult" MONDO_0100130 "Disgenet " 399 ALB Depression MONDO_0002050 "Disgenet " 399 ALB "Cerebrovascular accident" MONDO_0005098 "Disgenet " 399 ALB "Glomerulonephritides, Membranous" MONDO_0005376 "Disgenet " 399 ALB Thrombocytopenia MONDO_0002049 "Disgenet " 399 ALB Glomerulonephritides MONDO_0002462 "Disgenet " 399 ALB "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 399 ALB "Liver Failure, Acute" MONDO_0019542 "Disgenet " 399 ALB "Ulcerative colitis" MONDO_0005101 "Disgenet " 399 ALB "Heart failure" MONDO_0005252 "Disgenet " 399 ALB Nephropathy MONDO_0005240 "Disgenet " 399 ALB "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 399 ALB "Cardiovascular Disease" MONDO_0004995 "Disgenet " 399 ALB "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 399 ALB "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 399 ALB "Acute kidney injury" MONDO_0002492 "Disgenet " 399 ALB Hypoalbuminemia "Disgenet " 399 ALB "High blood pressure" MONDO_0005044 "Disgenet " 399 ALB "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 399 ALB "Liver cell carcinoma" MONDO_0007256 "Disgenet " 399 ALB Pancreatitis MONDO_0004982 "Disgenet " 399 ALB "Brain Injuries" MONDO_0043510 "Disgenet " 399 ALB Nephroses MONDO_0002331 "Disgenet " 399 ALB Cholangiocarcinoma MONDO_0019087 "Disgenet " 399 ALB Nephritides MONDO_0001166 "Disgenet " 399 ALB "lung injury" "Disgenet " 399 ALB Psoriases MONDO_0005083 "Disgenet " 399 ALB "Cardiac Disease" MONDO_0005267 "Disgenet " 399 ALB Encephalopathy MONDO_0005560 "Disgenet " 399 ALB Epilepsies MONDO_0005027 "Disgenet " 399 ALB "Congestive heart failure" MONDO_0005252 "Disgenet " 399 ALB "Chronic hepatitis, unspecified" MONDO_0002251 "Disgenet " 399 ALB "Angiopathies, Diabetic" MONDO_0000960 "Disgenet " 399 ALB "Hyperthyroxinemia, Dysalbuminemic" "Disgenet " 399 ALB "primary biliary cirrhosis" MONDO_0005388 "Disgenet " 399 ALB "HIV infection" MONDO_0005109 "Disgenet " 399 ALB "Interstitial Nephritides" MONDO_0001085 "Disgenet " 399 ALB "Brain Disease" MONDO_0005560 "Disgenet " 399 ALB Uveitides MONDO_0020283 "Disgenet " 399 ALB "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 399 ALB Hyperthyroxinemia MONDO_0005333 "Disgenet " 40 ABCB1 "Depressive neurosis" MONDO_0002050 "Disgenet " 40 ABCB1 Depression MONDO_0002050 "Disgenet " 40 ABCB1 "Kidney Neoplasm" MONDO_0002367 "Disgenet " 40 ABCB1 Schizophrenias MONDO_0005090 "Disgenet " 40 ABCB1 "Parkinson Disease" MONDO_0014796 "Disgenet " 40 ABCB1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 40 ABCB1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 40 ABCB1 "Heroin Dependence" MONDO_0005367 "Disgenet " 40 ABCB1 "Cardiac Disease" MONDO_0005267 "Disgenet " 40 ABCB1 "Carcinomas, Infiltrating Duct" MONDO_0005590 "Disgenet " 40 ABCB1 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 40 ABCB1 "Acquired Immuno Deficiency Syndrome" MONDO_0017769 "Disgenet " 40 ABCB1 "Adrenal cortical carcinoma" MONDO_0006639 "Disgenet " 40 ABCB1 "Breast cancer (ductal)" MONDO_0004953 "Disgenet " 40 ABCB1 "Hypotension, Orthostatic" MONDO_0005469 "Disgenet " 40 ABCB1 "HIV infection" MONDO_0005109 "Disgenet " 40 ABCB1 ALL MONDO_0004967 "Disgenet " 40 ABCB1 CRC MONDO_0005335 "Disgenet " 40 ABCB1 "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 40 ABCB1 "Opioid dependence" MONDO_0005530 "Disgenet " 40 ABCB1 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 40 ABCB1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 40 ABCB1 "Infection, Plasmodium" MONDO_0005136 "Disgenet " 40 ABCB1 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 40 ABCB1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 40 ABCB1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 40 ABCB1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 40 ABCB1 "Ulcerative colitis" MONDO_0005101 "Disgenet " 40 ABCB1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 40 ABCB1 neurotoxicity MONDO_0005527 "Disgenet " 40 ABCB1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 40 ABCB1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 40 ABCB1 Epilepsies MONDO_0005027 "Disgenet " 40 ABCB1 "adenocarcinoma of large intestine (diagnosis)" MONDO_0005008 "Disgenet " 40 ABCB1 Neutropenia MONDO_0001475 "Disgenet " 40 ABCB1 "Hematologic Neoplasm" MONDO_0044881 "Disgenet " 40 ABCB1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 40 ABCB1 Carcinoma MONDO_0004993 "Disgenet " 40 ABCB1 Neuroblastoma MONDO_0005072 "Disgenet " 40 ABCB1 "Abuse, Marihuana" MONDO_0005689 "Disgenet " 40 ABCB1 Hyperlipemias MONDO_0021187 "Disgenet " 40 ABCB1 "Status Epilepticus" MONDO_0002125 "Disgenet " 40 ABCB1 Psychosis MONDO_0005485 "Disgenet " 40 ABCB1 "Tuberculosis, Pulmonary" MONDO_0957462 "Disgenet " 40 ABCB1 "Mental Disorder" MONDO_0005084 "Disgenet " 40 ABCB1 Nephropathy MONDO_0005240 "Disgenet " 40 ABCB1 "Diseases, Nervous System" MONDO_0005071 "Disgenet " 40 ABCB1 "Behcet Syndrome" MONDO_0007191 "Disgenet " 40 ABCB1 "Dependence, Cannabis" MONDO_0005689 "Disgenet " 40 ABCB1 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 40 ABCB1 Cardiomyopathy MONDO_0004994 "Disgenet " 40 ABCB1 Epithelioma MONDO_0004993 "Disgenet " 40 ABCB1 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 40 ABCB1 "Disease, Periodic" MONDO_0018088 "Disgenet " 400 ALCAM Carcinoma MONDO_0004993 "Disgenet " 40038 PET100 "Leigh syndrome" MONDO:0009723 "ClinGen " 40038 PET100 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 4004 FUBP1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 40045 PET117 "Leigh syndrome" MONDO:0009723 "ClinGen " 4006 FUCA1 fucosidosis MONDO:0009254 "ClinGen " 4006 FUCA1 Fucosidosis MONDO_0009254 "Disgenet " 4010 FUS "Degenerative disease of nervous system, unspecified" MONDO_0005559 "Disgenet " 4010 FUS "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 4010 FUS "Amyotrophic lateral sclerosis, type 6" MONDO_0011951 "Disgenet " 4010 FUS "Frontotemporal dementia" MONDO_0017276 "Disgenet " 4010 FUS "Cancer, Breast" MONDO_0007254 "Disgenet " 4010 FUS ETM4 MONDO_0013888 "Disgenet " 4010 FUS "amyotrophic lateral sclerosis type 6" MONDO:0011951 "ClinGen " 4010 FUS "Myxoid liposarcoma" MONDO_0020561 "Disgenet " 4010 FUS Liposarcoma MONDO_0005060 "Disgenet " 4010 FUS "Juvenile amyotrophic lateral sclerosis" MONDO_0017593 "Disgenet " 4013 FUT2 "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 4019 FUT8 Schizophrenias MONDO_0005090 "Disgenet " 4019 FUT8 "congenital disorder of glycosylation with defective fucosylation 1" MONDO:0020775 "ClinGen " 4019 FUT8 "CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1" MONDO_0060720 "Disgenet " 402 ALDH1A1 Alcoholism MONDO_0002046 "Disgenet " 402 ALDH1A1 Schizophrenias MONDO_0005090 "Disgenet " 402 ALDH1A1 Melanoma MONDO_0005105 "Disgenet " 4021 KDSR EKVP4 MONDO_0033014 "Disgenet " 4021 KDSR "Brill Symmers Disease" MONDO_0018906 "Disgenet " 4021 KDSR "erythrokeratodermia variabilis et progressiva 4" MONDO:0033014 "ClinGen " 4023 FXR1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 4023 FXR1 "Cancer, Breast" MONDO_0007254 "Disgenet " 4026 FXYD2 "renal hypomagnesemia 2" MONDO:0007937 "ClinGen " 4026 FXYD2 "HYPOMAGNESEMIA 2, RENAL" MONDO_0007937 "Disgenet " 4027 FXYD3 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 403 ALDH3A2 "Sjogren-Larsson Syndrome" MONDO_0010031 "Disgenet " 4030 FXYD6 Schizophrenias MONDO_0005090 "Disgenet " 4035 ACKR1 "Infection, Plasmodium" MONDO_0005136 "Disgenet " 4035 ACKR1 "Malaria, Plasmodium vivax" MONDO_0005921 "Disgenet " 4036 FYB1 Thrombocytopenia MONDO_0002049 "Disgenet " 4036 FYB1 CARST MONDO_0035441 "Disgenet " 4036 FYB1 "thrombocytopenia 3" MONDO:0010120 "ClinGen " 4037 FYN "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 4037 FYN Alcoholism MONDO_0002046 "Disgenet " 4037 FYN "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 4037 FYN "Bipolar Disorders" MONDO_0004985 "Disgenet " 4037 FYN Schizophrenias MONDO_0005090 "Disgenet " 4037 FYN "Alzheimer Disease" MONDO_0012630 "Disgenet " 4037 FYN "Lymphoma, Peripheral T-Cell" MONDO_0004964 "Disgenet " 404 ALDH2 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 404 ALDH2 Asthma MONDO_0004979 "Disgenet " 404 ALDH2 "Heroin Dependence" MONDO_0005367 "Disgenet " 404 ALDH2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 404 ALDH2 Melanoses "Disgenet " 404 ALDH2 "Disorder associated with diabetes mellitus" "Disgenet " 404 ALDH2 Alcoholism MONDO_0002046 "Disgenet " 404 ALDH2 "Abuse, Alcohol" MONDO_0002046 "Disgenet " 404 ALDH2 "High blood pressure" MONDO_0005044 "Disgenet " 404 ALDH2 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 404 ALDH2 "Diseases, Liver" MONDO_0005154 "Disgenet " 404 ALDH2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 404 ALDH2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 404 ALDH2 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 404 ALDH2 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 404 ALDH2 "Alcohol Related Disorders" MONDO_0021698 "Disgenet " 404 ALDH2 "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 404 ALDH2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 404 ALDH2 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 404 ALDH2 "Parkinson Disease" MONDO_0014796 "Disgenet " 404 ALDH2 "Alzheimer Disease" MONDO_0012630 "Disgenet " 404 ALDH2 "Alcoholic Liver Cirrhosis" MONDO_0006644 "Disgenet " 404 ALDH2 "Alcoholic Intoxication" "Disgenet " 404 ALDH2 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 4040 FZD2 "OMODYSPLASIA 2" MONDO_0008123 "Disgenet " 4041 FZD3 Schizophrenias MONDO_0005090 "Disgenet " 4041 FZD3 "Syndrome, Williams" MONDO_0008678 "Disgenet " 4042 FZD4 "EXUDATIVE VITREORETINOPATHY 1" MONDO_0019516 "Disgenet " 4042 FZD4 Retinopathy MONDO_0005283 "Disgenet " 4042 FZD4 "Familial exudative vitreoretinopathy" MONDO_0019516 "Disgenet " 4042 FZD4 CRC MONDO_0005335 "Disgenet " 4042 FZD4 "FZD4-related exudative vitreoretinopathy" MONDO:1040041 "ClinGen " 4042 FZD4 "Persistent hyperplasia of primary vitreous" MONDO_0019631 "Disgenet " 4042 FZD4 "Norrie's disease" MONDO_0010691 "Disgenet " 4042 FZD4 "Fibroplasias, Retrolental" MONDO_0006952 "Disgenet " 4043 FZD5 Coloboma MONDO_0007350 "Disgenet " 405 ALDH3A1 Keratoconus MONDO_0015486 "Disgenet " 4053 ISG15 carcinogenesis "Disgenet " 4056 G6PC1 "Diseases, Glycogen Storage" MONDO_0010362 "Disgenet " 4056 G6PC1 "Deficiencies, Glucose-6-Phosphatase" MONDO_0002413 "Disgenet " 4056 G6PC1 "glycogen storage disease I" MONDO:0002413 "ClinGen " 4056 G6PC1 Hypoglycemia MONDO_0004946 "Disgenet " 4056 G6PC1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 4056 G6PC1 GSD1 MONDO_0009287 "Disgenet " 4057 G6PD "Infection, Plasmodium" MONDO_0005136 "Disgenet " 4057 G6PD "Deficiencies, Glucosephosphate Dehydrogenase" MONDO_0005775 "Disgenet " 4057 G6PD "Anemia, Hemolytic" MONDO_0003664 "Disgenet " 4057 G6PD Anemia MONDO_0002280 "Disgenet " 4057 G6PD "Anemia, Hemolytic, Congenital Nonspherocytic" MONDO_0006506 "Disgenet " 4057 G6PD "G6PD deficiency" MONDO:0005775 "ClinGen " 4057 G6PD "anemia, nonspherocytic hemolytic, due to G6PD deficiency" MONDO:0010480 "ClinGen " 4057 G6PD "Jaundice, Neonatal" "Disgenet " 4057 G6PD "Diabetes Mellitus" MONDO_0005015 "Disgenet " 4057 G6PD Favism MONDO_0001761 "Disgenet " 4057 G6PD "Bipolar Disorders" MONDO_0004985 "Disgenet " 4057 G6PD "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 4057 G6PD "Acute kidney injury" MONDO_0002492 "Disgenet " 4057 G6PD "Anemia, Congenital Hemolytic" MONDO_0003689 "Disgenet " 4057 G6PD "Chronic Granulomatous Diseases" MONDO_0018305 "Disgenet " 4057 G6PD "Malaria, Falciparum" MONDO_0005920 "Disgenet " 406 ALDH4A1 Hyperprolinaemia MONDO_0023419 "Disgenet " 406 ALDH4A1 "hyperprolinemia type 2" MONDO:0009401 "ClinGen " 406 ALDH4A1 "HYPERPROLINEMIA, TYPE II" MONDO_0009401 "Disgenet " 4061 SLC37A4 "GLYCOGEN STORAGE DISEASE Ib" MONDO_0009288 "Disgenet " 4061 SLC37A4 "Diseases, Glycogen Storage" MONDO_0010362 "Disgenet " 4061 SLC37A4 "GLYCOGEN STORAGE DISEASE Ic" MONDO_0009288 "Disgenet " 4061 SLC37A4 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 4061 SLC37A4 "Deficiencies, Glucose-6-Phosphatase" MONDO_0002413 "Disgenet " 4065 GAA Myopathy MONDO_0003939 "Disgenet " 4065 GAA "Pompe's disease infantile onset" MONDO_0017694 "Disgenet " 4065 GAA "Glycogen Storage Disease Type II" MONDO_0009290 "Disgenet " 4065 GAA "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 4065 GAA "INFANTILE GLYCOGEN STORAGE DIS TYPE II" "Disgenet " 4065 GAA "Diseases, Glycogen Storage" MONDO_0010362 "Disgenet " 4065 GAA "Alpha-1,4-glucosidase acid deficiency, late onset" MONDO_0018485 "Disgenet " 4065 GAA "glycogen storage disease II" MONDO:0009290 "ClinGen " 4066 GAB1 "DEAFNESS, AUTOSOMAL RECESSIVE 26" MONDO_0011553 "Disgenet " 4066 GAB1 "Cancer, Breast" MONDO_0007254 "Disgenet " 4066 GAB1 "Ovary Syndrome, Polycystic" MONDO_0008487 "Disgenet " 407 ALDH1B1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 4070 GABBR1 "Abuse, Alcohol" MONDO_0002046 "Disgenet " 4070 GABBR1 Alcoholism MONDO_0002046 "Disgenet " 4070 GABBR1 Schizophrenias MONDO_0005090 "Disgenet " 4070 GABBR1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 4070 GABBR1 "Neurofibromatosis 1" MONDO_0018975 "Disgenet " 4070 GABBR1 "Global developmental delay" "Disgenet " 4070 GABBR1 "Dependence, Nicotine" MONDO_0008575 "Disgenet " 4070 GABBR1 "Childhood autism" MONDO_0005260 "Disgenet " 4075 GABRA1 "Generalized idiopathic epilepsy and epileptic syndromes" MONDO_0005579 "Disgenet " 4075 GABRA1 "Affective Disorders" MONDO_0005371 "Disgenet " 4075 GABRA1 "juvenile myoclonic epilepsy" MONDO_0009696 "Disgenet " 4075 GABRA1 "epileptic encephalopathy" "Disgenet " 4075 GABRA1 Alcoholism MONDO_0002046 "Disgenet " 4075 GABRA1 SMEI MONDO_0100079 "Disgenet " 4075 GABRA1 epilepsy MONDO:0005027 "ClinGen " 4075 GABRA1 EIEE19 MONDO_0014328 "Disgenet " 4075 GABRA1 Schizophrenias MONDO_0005090 "Disgenet " 408 ALDH5A1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 408 ALDH5A1 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 408 ALDH5A1 "SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY" MONDO_0010083 "Disgenet " 408 ALDH5A1 "succinic semialdehyde dehydrogenase deficiency" MONDO:0010083 "ClinGen " 4081 GABRB1 "developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 4081 GABRB1 EIEE45 MONDO_0014942 "Disgenet " 4081 GABRB1 "Childhood autism" MONDO_0005260 "Disgenet " 4081 GABRB1 Alcoholism MONDO_0002046 "Disgenet " 4081 GABRB1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 4081 GABRB1 Schizophrenias MONDO_0005090 "Disgenet " 4082 GABRB2 "Childhood autism" MONDO_0005260 "Disgenet " 4082 GABRB2 "premenstrual dysphoric disorder" "Disgenet " 4082 GABRB2 Alcoholism MONDO_0002046 "Disgenet " 4082 GABRB2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 4082 GABRB2 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 4082 GABRB2 IECEE2 MONDO_0020631 "Disgenet " 4082 GABRB2 Schizophrenias MONDO_0005090 "Disgenet " 4082 GABRB2 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 4082 GABRB2 Epilepsies MONDO_0005027 "Disgenet " 4086 GABRG1 Alcoholism MONDO_0002046 "Disgenet " 4086 GABRG1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 409 ALDH1A3 MCOP8 MONDO_0014050 "Disgenet " 409 ALDH1A3 Microphthalmos MONDO_0021129 "Disgenet " 409 ALDH1A3 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 409 ALDH1A3 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 409 ALDH1A3 Melanoma MONDO_0005105 "Disgenet " 4092 GAD1 "Heroin Dependence" MONDO_0005367 "Disgenet " 4092 GAD1 Depression MONDO_0002050 "Disgenet " 4092 GAD1 "Depressive neurosis" MONDO_0002050 "Disgenet " 4092 GAD1 "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89" MONDO_0030856 "Disgenet " 4092 GAD1 "obsolete early infantile epileptic encephalopathy" MONDO:0016021 "ClinGen " 4092 GAD1 Alcoholism MONDO_0002046 "Disgenet " 4092 GAD1 "Anxiety Disorder" MONDO_0005618 "Disgenet " 4092 GAD1 Schizophrenias MONDO_0005090 "Disgenet " 4092 GAD1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 4092 GAD1 "Childhood autism" MONDO_0005260 "Disgenet " 4092 GAD1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 4092 GAD1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 4095 GADD45A "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 4095 GADD45A "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 4095 GADD45A "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 4095 GADD45A "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 4096 GADD45B Psychosis MONDO_0005485 "Disgenet " 4096 GADD45B "Unspecified nonorganic psychosis" "Disgenet " 410 ALDH3B1 Schizophrenias MONDO_0005090 "Disgenet " 4113 GAK "Parkinson Disease" MONDO_0014796 "Disgenet " 4115 GALC Leukodystrophy MONDO_0019046 "Disgenet " 4115 GALC "Krabbe disease" MONDO:0009499 "ClinGen " 4115 GALC "Late Onset Globoid Cell Leukodystrophy" MONDO_0016091 "Disgenet " 4115 GALC "Globoid cell leukodystrophy, early onset" MONDO_0009499 "Disgenet " 4115 GALC "Globoid Cell Leukodystrophies" MONDO_0009499 "Disgenet " 4116 GALE "UDPglucose-4-epimerase deficiency (disorder)" MONDO_0018116 "Disgenet " 4116 GALE Galactosemias MONDO_0018116 "Disgenet " 4116 GALE "galactose epimerase deficiency" MONDO:0009257 "ClinGen " 4117 B4GALNT1 "complex hereditary spastic paraplegia" MONDO:0015150 "ClinGen " 4117 B4GALNT1 "Complicated hereditary spastic paraplegia" MONDO_0015150 "Disgenet " 4117 B4GALNT1 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 4117 B4GALNT1 "SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE" MONDO_0012213 "Disgenet " 4118 GALK1 "Deficiency of galactokinase" MONDO_0018116 "Disgenet " 4118 GALK1 "galactokinase deficiency" MONDO:0009255 "ClinGen " 4118 GALK1 Galactosemias MONDO_0018116 "Disgenet " 4122 GALNS "mucopolysaccharidosis type 4A" MONDO:0009659 "ClinGen " 4122 GALNS MPS4A MONDO_0009659 "Disgenet " 4122 GALNS "Disease, Morquio's" MONDO_0018938 "Disgenet " 4122 GALNS "Skeletal dysplasia" MONDO_0018230 "Disgenet " 4124 GALNT2 "congenital disorder of glycosylation, type iit" MONDO:0030043 "ClinGen " 4125 GALNT3 "tumoral calcinosis, hyperphosphatemic, familial, 1" MONDO:0100252 "ClinGen " 4125 GALNT3 HFTC MONDO_0100251 "Disgenet " 4125 GALNT3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 4125 GALNT3 HYPERPHOSPHATEMIA MONDO_0000328 "Disgenet " 4135 GALT Galactosemias MONDO_0018116 "Disgenet " 4135 GALT "Classical galactosemia" MONDO_0018116 "Disgenet " 4135 GALT "Primary ovarian failure" MONDO_0005387 "Disgenet " 4136 GAMT "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 4136 GAMT "Unspecified mental retardation" MONDO_0001071 "Disgenet " 4136 GAMT "Guanidinoacetate methyltransferase deficiency" MONDO_0012999 "Disgenet " 4136 GAMT "guanidinoacetate methyltransferase deficiency" MONDO:0012999 "ClinGen " 4136 GAMT "Creatine deficiency syndrome" MONDO_0000456 "Disgenet " 4137 GAN "Peripheral neuropathy" MONDO_0005244 "Disgenet " 4137 GAN GAN1 MONDO_0000128 "Disgenet " 4137 GAN "giant axonal neuropathy 1" MONDO:0009749 "ClinGen " 4137 GAN "Axonal Neuropathy, Giant (GAN)" MONDO_0000128 "Disgenet " 4138 GANAB "Polycystic kidney" MONDO_0020642 "Disgenet " 4138 GANAB "Polycystic liver disease" MONDO_0000447 "Disgenet " 4138 GANAB "Polycystic Kidney, Autosomal Dominant" MONDO_0004691 "Disgenet " 4138 GANAB APKD3 MONDO_0010916 "Disgenet " 4138 GANAB "polycystic kidney disease 3 with or without polycystic liver disease" MONDO:0010916 "ClinGen " 4140 GAP43 "Depressive neurosis" MONDO_0002050 "Disgenet " 4140 GAP43 Depression MONDO_0002050 "Disgenet " 4140 GAP43 "Bipolar Disorders" MONDO_0004985 "Disgenet " 4140 GAP43 Schizophrenias MONDO_0005090 "Disgenet " 4140 GAP43 "Status Epilepticus" MONDO_0002125 "Disgenet " 4140 GAP43 "Affective Disorders" MONDO_0005371 "Disgenet " 4141 GAPDH Alcoholism MONDO_0002046 "Disgenet " 4141 GAPDH "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 4141 GAPDH "Mouth Neoplasm" MONDO_0021245 "Disgenet " 4141 GAPDH "Alzheimer Disease" MONDO_0012630 "Disgenet " 4141 GAPDH "Liver cell carcinoma" MONDO_0007256 "Disgenet " 4141 GAPDH "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 4141 GAPDH "Acute Coronary Syndrome" MONDO_0005542 "Disgenet " 4141 GAPDH "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 4161 LRRC32 "Global developmental delay" "Disgenet " 4161 LRRC32 "Cleft hard palate with cleft soft palate" MONDO_0007336 "Disgenet " 4162 GARS1 DSMAV MONDO_0100350 "Disgenet " 4162 GARS1 "Charcot-Marie-Tooth disease type 2D" MONDO:0011091 "ClinGen " 4162 GARS1 "Motor Neuron Disease" MONDO_0008780 "Disgenet " 4162 GARS1 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D" MONDO_0011091 "Disgenet " 4162 GARS1 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 4162 GARS1 "Distal spinal muscular atrophy" MONDO_0001516 "Disgenet " 4165 GAS1 Holoprosencephalies MONDO_0016296 "Disgenet " 4165 GAS1 holoprosencephaly MONDO:0016296 "ClinGen " 4166 GAS8 "primary ciliary dyskinesia 33" MONDO:0014750 "ClinGen " 4166 GAS8 "CILIARY DYSKINESIA, PRIMARY, 33, WITHOUT SITUS INVERSUS" MONDO_0014750 "Disgenet " 4166 GAS8 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 4168 GAS6 "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 4171 GATA2 Anemia MONDO_0002280 "Disgenet " 4171 GATA2 "Myeloid Leukemias" MONDO_0004643 "Disgenet " 4171 GATA2 "GATA2 deficiency with susceptibility to MDS/AML" MONDO:0042982 "ClinGen " 4171 GATA2 Lymphedema MONDO_0019297 "Disgenet " 4171 GATA2 "Inherited acute myeloid leukemia" MONDO_0017893 "Disgenet " 4171 GATA2 "Dysmyelopoietic Syndrome" MONDO_0018881 "Disgenet " 4171 GATA2 "LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA" MONDO_0013607 "Disgenet " 4171 GATA2 DCML MONDO_0013607 "Disgenet " 4171 GATA2 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 4172 GATA3 "HDR syndrome" MONDO_0007797 "Disgenet " 4172 GATA3 "hypoparathyroidism-deafness-renal disease syndrome" MONDO:0007797 "ClinGen " 4172 GATA3 Carcinoma MONDO_0004993 "Disgenet " 4172 GATA3 Cakut MONDO_0019719 "Disgenet " 4172 GATA3 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 4172 GATA3 "Hodgkin's granuloma" MONDO_0004952 "Disgenet " 4172 GATA3 Hypoparathyroidism MONDO_0001220 "Disgenet " 4172 GATA3 "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 4172 GATA3 "Cancer, Breast" MONDO_0007254 "Disgenet " 4172 GATA3 Neuroblastoma MONDO_0005072 "Disgenet " 4172 GATA3 carcinogenesis "Disgenet " 4172 GATA3 Hypoacusis MONDO_0005365 "Disgenet " 4172 GATA3 Epithelioma MONDO_0004993 "Disgenet " 4172 GATA3 ALL MONDO_0004967 "Disgenet " 4173 GATA4 "Diaphragmatic Hernias" MONDO_0005711 "Disgenet " 4173 GATA4 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 4173 GATA4 "structural congenital heart disease, multiple types - GATA4" MONDO:0100009 "ClinGen " 4173 GATA4 "Atrial septal defect" MONDO_0006664 "Disgenet " 4173 GATA4 "Fallot Tetralogy" MONDO_0008542 "Disgenet " 4173 GATA4 "ATRIAL SEPTAL DEFECT 2" MONDO_0011938 "Disgenet " 4173 GATA4 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 4173 GATA4 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 4173 GATA4 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 4173 GATA4 "Secundum atrial septal defect" MONDO_0006664 "Disgenet " 4173 GATA4 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 4173 GATA4 "Ventricular septal defect" MONDO_0002070 "Disgenet " 4173 GATA4 "congenital heart disorder" MONDO_0005453 "Disgenet " 4173 GATA4 "Cushion Defect, Endocardial" MONDO_0020290 "Disgenet " 4174 GATA6 "Congenital diaphragmatic hernia" MONDO_0007719 "Disgenet " 4174 GATA6 "Ventricular septal defect" MONDO_0002070 "Disgenet " 4174 GATA6 "Atrial septal defect" MONDO_0006664 "Disgenet " 4174 GATA6 "Diaphragmatic Hernias" MONDO_0005711 "Disgenet " 4174 GATA6 "Abnormality of cardiovascular system morphology" "Disgenet " 4174 GATA6 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 4174 GATA6 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 4174 GATA6 "GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes" MONDO:0100540 "ClinGen " 4174 GATA6 "Fallot Tetralogy" MONDO_0008542 "Disgenet " 4174 GATA6 "HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES" MONDO_0010802 "Disgenet " 4174 GATA6 "ATRIAL SEPTAL DEFECT 9" MONDO_0013770 "Disgenet " 4174 GATA6 "Truncus Arteriosus, Persistent" MONDO_0018072 "Disgenet " 4174 GATA6 "Partial pancreatic agenesis" MONDO_0009832 "Disgenet " 4174 GATA6 "Lung Neoplasm" MONDO_0002732 "Disgenet " 4174 GATA6 "Monogenic diabetes" MONDO_0015967 "Disgenet " 4175 GATM "deToni Fanconi syndrome" MONDO_0001083 "Disgenet " 4175 GATM "Renal tubular Fanconi syndrome" MONDO_0060778 "Disgenet " 4175 GATM "AGAT Deficiency" MONDO_0012996 "Disgenet " 4175 GATM "AGAT deficiency" MONDO:0012996 "ClinGen " 4175 GATM FRTS1 MONDO_0100238 "Disgenet " 4177 GBA1 "Pseudo Gaucher disease" MONDO_0009268 "Disgenet " 4177 GBA1 PD MONDO_0005180 "Disgenet " 4177 GBA1 "GAUCHER DISEASE, TYPE IIIC" MONDO_0009268 "Disgenet " 4177 GBA1 "Movement Disorders" MONDO_0005395 "Disgenet " 4177 GBA1 Thrombocytopenia MONDO_0002049 "Disgenet " 4177 GBA1 Parkinsonism MONDO_0021095 "Disgenet " 4177 GBA1 "GAUCHER DISEASE, TYPE II" MONDO_0018150 "Disgenet " 4177 GBA1 "Gaucher Disease" MONDO_0018150 "Disgenet " 4177 GBA1 "Parkinson Disease" MONDO_0014796 "Disgenet " 4177 GBA1 "GAUCHER DISEASE, TYPE I" MONDO_0018150 "Disgenet " 4177 GBA1 "Lewy Body Disease" MONDO_0007488 "Disgenet " 4177 GBA1 "GAUCHER DISEASE, TYPE III" MONDO_0018150 "Disgenet " 4177 GBA1 "Parkinson disease" MONDO:0005180 "ClinGen " 4177 GBA1 "Gaucher disease" MONDO:0018150 "ClinGen " 4177 GBA1 "GAUCHER DISEASE, PERINATAL LETHAL" MONDO_0011945 "Disgenet " 4177 GBA1 Dementia MONDO_0001627 "Disgenet " 4180 GBE1 FADS MONDO_0008824 "Disgenet " 4180 GBE1 "glycogen storage disease due to glycogen branching enzyme deficiency" MONDO:0009292 "ClinGen " 4180 GBE1 "Diseases, Glycogen Storage" MONDO_0010362 "Disgenet " 4180 GBE1 APBD MONDO_0009897 "Disgenet " 4180 GBE1 Amylopectinoses MONDO_0009292 "Disgenet " 4187 GC "Multiple Sclerosis" MONDO_0005301 "Disgenet " 4187 GC COPD MONDO_0005002 "Disgenet " 4187 GC "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 4187 GC "GRAVES DISEASE" MONDO_0005364 "Disgenet " 4187 GC "Liver cell carcinoma" MONDO_0007256 "Disgenet " 4187 GC "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 4187 GC "Liver Failure, Acute" MONDO_0019542 "Disgenet " 4187 GC Schizophrenias MONDO_0005090 "Disgenet " 4187 GC "HIV infection" MONDO_0005109 "Disgenet " 4187 GC "Ulcerative colitis" MONDO_0005101 "Disgenet " 4187 GC "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 4189 GCDH "Glutaryl-CoA dehydrogenase deficiency" MONDO_0017351 "Disgenet " 4189 GCDH "glutaryl-CoA dehydrogenase deficiency" MONDO:0009281 "ClinGen " 4193 GCH1 "GTP cyclohydrolase I deficiency" MONDO:0100184 "ClinGen " 4193 GCH1 "Dystonia Musculorum Deformans" MONDO_0000476 "Disgenet " 4193 GCH1 "High blood pressure" MONDO_0005044 "Disgenet " 4193 GCH1 Parkinsonism MONDO_0021095 "Disgenet " 4193 GCH1 Dystonia MONDO_0003441 "Disgenet " 4193 GCH1 "GTP cyclohydrolase I deficiency (disorder)" MONDO_0100184 "Disgenet " 4193 GCH1 DRD MONDO_0007495 "Disgenet " 4193 GCH1 Schizophrenias MONDO_0005090 "Disgenet " 4193 GCH1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 4193 GCH1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 4193 GCH1 "Anemia, Sickle Cell" MONDO_0011382 "Disgenet " 4195 GCK "Neonatal diabetes mellitus" MONDO_0020525 "Disgenet " 4195 GCK "monogenic diabetes" MONDO:0015967 "ClinGen " 4195 GCK "HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3" MONDO_0011236 "Disgenet " 4195 GCK "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 4195 GCK "High blood pressure" MONDO_0005044 "Disgenet " 4195 GCK Hyperinsulinism MONDO_0002177 "Disgenet " 4195 GCK Hyperglycemia MONDO_0002909 "Disgenet " 4195 GCK MODY2 MONDO_0007453 "Disgenet " 4195 GCK "Diabetes Mellitus" MONDO_0005015 "Disgenet " 4195 GCK "Maturity onset diabetes mellitus in young" MONDO_0018911 "Disgenet " 4195 GCK "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 4195 GCK PDMI MONDO_0100164 "Disgenet " 4195 GCK "Diabetes, Gestational" MONDO_0005406 "Disgenet " 4195 GCK Hypoglycemia MONDO_0004946 "Disgenet " 4195 GCK "Monogenic diabetes" MONDO_0015967 "Disgenet " 4195 GCK "DIABETES MELLITUS, PERMANENT NEONATAL" MONDO_0100164 "Disgenet " 4195 GCK PHHI MONDO_0019010 "Disgenet " 4195 GCK MODY3 MONDO_0010894 "Disgenet " 4195 GCK MODY1 MONDO_0007452 "Disgenet " 4196 GCKR "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 4196 GCKR Hypertriglyceridemia MONDO_0005347 "Disgenet " 4196 GCKR "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 4198 GCM2 Hyperparathyroidism MONDO_0001741 "Disgenet " 4198 GCM2 "Hypoparathyroidism familial isolated" MONDO_0016390 "Disgenet " 4198 GCM2 FIHP MONDO_0015027 "Disgenet " 4200 BLOC1S1 Schizophrenias MONDO_0005090 "Disgenet " 4204 GCNT2 "CATARACT 13 WITH ADULT i PHENOTYPE" MONDO_0007289 "Disgenet " 4204 GCNT2 "Congenital cataract" MONDO_0008925 "Disgenet " 4208 GCSH NKH MONDO_0958179 "Disgenet " 4208 GCSH "glycine encephalopathy" MONDO:0011612 "ClinGen " 4216 GDF11 "VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES" MONDO_0030871 "Disgenet " 4221 GDF6 "Leber congenital amaurosis" MONDO_0018998 "Disgenet " 4221 GDF6 "Dystrophia Brevicollis Congenitas" MONDO_0001029 "Disgenet " 4221 GDF6 MCOP4 MONDO_0013130 "Disgenet " 4221 GDF6 LCA17 MONDO_0014145 "Disgenet " 4221 GDF6 "KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT" MONDO_0001029 "Disgenet " 4221 GDF6 "MULTIPLE SYNOSTOSES SYNDROME 4" MONDO_0054752 "Disgenet " 4223 MSTN "Heart failure" MONDO_0005252 "Disgenet " 4223 MSTN "Congestive heart failure" MONDO_0005252 "Disgenet " 4224 GDF9 "PREMATURE OVARIAN FAILURE 14" MONDO_0044777 "Disgenet " 4224 GDF9 "Primary ovarian failure" MONDO_0005387 "Disgenet " 4224 GDF9 "Ovary Syndrome, Polycystic" MONDO_0008487 "Disgenet " 4226 GDI1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 4226 GDI1 MRX1 MONDO_0010656 "Disgenet " 4226 GDI1 "non-syndromic X-linked intellectual disability" MONDO:0019181 "ClinGen " 4226 GDI1 MRX41 MONDO_0010451 "Disgenet " 4232 GDNF "Glioma, malignant" MONDO_0100342 "Disgenet " 4232 GDNF "Congenital central hypoventilation syndrome" MONDO_0800026 "Disgenet " 4232 GDNF Pheochromocytoma MONDO_0008233 "Disgenet " 4232 GDNF "Chorea, Huntington" MONDO_0011671 "Disgenet " 4232 GDNF "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 4232 GDNF Schizophrenias MONDO_0005090 "Disgenet " 4232 GDNF "Depressions, Unipolar" MONDO_0002050 "Disgenet " 4232 GDNF "Bipolar Disorders" MONDO_0004985 "Disgenet " 4232 GDNF "Parkinson Disease" MONDO_0014796 "Disgenet " 4232 GDNF "Disease, Hirschsprung" MONDO_0018309 "Disgenet " 4232 GDNF Gliomas MONDO_0021042 "Disgenet " 4232 GDNF Glioblastoma MONDO_0018177 "Disgenet " 4232 GDNF "Degenerative disease of nervous system, unspecified" MONDO_0005559 "Disgenet " 4232 GDNF Parkinsonism MONDO_0021095 "Disgenet " 4232 GDNF Epilepsies MONDO_0005027 "Disgenet " 4235 GFAP "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 4235 GFAP "Diseases, Nervous System" MONDO_0005071 "Disgenet " 4235 GFAP Depression MONDO_0002050 "Disgenet " 4235 GFAP Schizophrenias MONDO_0005090 "Disgenet " 4235 GFAP "Parkinson Disease" MONDO_0014796 "Disgenet " 4235 GFAP "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 4235 GFAP "Bipolar Disorders" MONDO_0004985 "Disgenet " 4235 GFAP "Neuromyelitis Optica" MONDO_0019100 "Disgenet " 4235 GFAP "Lewy Body Disease" MONDO_0007488 "Disgenet " 4235 GFAP "Peripheral neuropathy" MONDO_0005244 "Disgenet " 4235 GFAP "Motor Neuron Disease" MONDO_0008780 "Disgenet " 4235 GFAP "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 4235 GFAP "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 4235 GFAP "Depressive neurosis" MONDO_0002050 "Disgenet " 4235 GFAP "Depressions, Unipolar" MONDO_0002050 "Disgenet " 4235 GFAP "Alexander's disease" MONDO_0008752 "Disgenet " 4235 GFAP "Alexander disease" MONDO:0008752 "ClinGen " 4235 GFAP Epilepsies MONDO_0005027 "Disgenet " 4236 GFER "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 4236 GFER "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 4236 GFER "Liver Failure, Acute" MONDO_0019542 "Disgenet " 4236 GFER "Acute kidney injury" MONDO_0002492 "Disgenet " 4237 GFI1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 4237 GFI1 "Infantile genetic agranulocytosis" MONDO_0018542 "Disgenet " 4237 GFI1 SCN2 MONDO_0013139 "Disgenet " 4241 GFPT1 "congenital myasthenic syndrome 12" MONDO:0012518 "ClinGen " 4241 GFPT1 Myopathy MONDO_0003939 "Disgenet " 4241 GFPT1 "CONGEN MYASTHENIA GRAVIS" MONDO_0018940 "Disgenet " 4241 GFPT1 CMSTA1 MONDO_0012518 "Disgenet " 4243 GFRA1 "Renal agenesis, bilateral" MONDO_0015986 "Disgenet " 4243 GFRA1 "Disease, Hirschsprung" MONDO_0018309 "Disgenet " 4248 GGH "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 4248 GGH "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 4250 GGT1 "Abuse, Alcohol" MONDO_0002046 "Disgenet " 4250 GGT1 Periodontitides MONDO_0005593 "Disgenet " 4250 GGT1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 4250 GGT1 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 4250 GGT1 "Diseases, Liver" MONDO_0005154 "Disgenet " 4250 GGT1 GLUTATHIONURIA MONDO_0009285 "Disgenet " 4261 GH1 Alcoholism MONDO_0002046 "Disgenet " 4261 GH1 Anemia MONDO_0002280 "Disgenet " 4261 GH1 "Sheehans Syndrome" MONDO_0014103 "Disgenet " 4261 GH1 beta-Thalassemia MONDO_0013517 "Disgenet " 4261 GH1 "KOWARSKI SYNDROME" MONDO_0009879 "Disgenet " 4261 GH1 "PITUITARY DWARFISM I" MONDO_0000050 "Disgenet " 4261 GH1 Panhypopituitarism MONDO_0019591 "Disgenet " 4261 GH1 "Idiopathic growth hormone deficiency" MONDO_0012880 "Disgenet " 4261 GH1 "Hypogonadotropic hypogonadism" MONDO_0014102 "Disgenet " 4261 GH1 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 4261 GH1 "Cardiovascular Disease" MONDO_0004995 "Disgenet " 4261 GH1 "Neoplasm, Pituitary" MONDO_0002109 "Disgenet " 4261 GH1 "Growth Hormone-Secreting Pituitary Adenoma" MONDO_0006238 "Disgenet " 4261 GH1 "Depressive neurosis" MONDO_0002050 "Disgenet " 4261 GH1 "ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB" MONDO_0013006 "Disgenet " 4261 GH1 Depression MONDO_0002050 "Disgenet " 4261 GH1 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 4261 GH1 ALL MONDO_0004967 "Disgenet " 4261 GH1 "Congenital IGHD" MONDO_0000050 "Disgenet " 4261 GH1 "Hutchinson Gilford Syndrome" MONDO_0008310 "Disgenet " 4261 GH1 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 4261 GH1 "Dwarfism, Pituitary" MONDO_0013946 "Disgenet " 4261 GH1 Hypopituitarism MONDO_0013961 "Disgenet " 4261 GH1 IGHD2 MONDO_0008250 "Disgenet " 4261 GH1 "XO syndrome" MONDO_0019499 "Disgenet " 4261 GH1 Obesity MONDO_0019182 "Disgenet " 4261 GH1 Acromegaly MONDO_0019933 "Disgenet " 4263 GHR "GROWTH HORMONE RECEPT DEFIC" MONDO_0009877 "Disgenet " 4263 GHR "Growth Hormone Insensitivity Syndrome" MONDO_0015892 "Disgenet " 4263 GHR "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 4263 GHR "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 4263 GHR "Liver cell carcinoma" MONDO_0007256 "Disgenet " 4263 GHR "Dwarfism, Pituitary" MONDO_0013946 "Disgenet " 4267 GHSR Obesity MONDO_0019182 "Disgenet " 427 ALK Glioblastoma MONDO_0018177 "Disgenet " 427 ALK Rhabdomyosarcoma MONDO_0005212 "Disgenet " 427 ALK "ALCL, ALK+" MONDO_0017602 "Disgenet " 427 ALK "Brain Neoplasms" MONDO_0021211 "Disgenet " 427 ALK "Cancer, Ovarian" MONDO_0008170 "Disgenet " 427 ALK "Renal cell carcinoma" MONDO_0005549 "Disgenet " 427 ALK "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 427 ALK "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 427 ALK "Ki 1 Lymphoma" MONDO_0020325 "Disgenet " 427 ALK Neuroblastoma MONDO_0005072 "Disgenet " 427 ALK "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 427 ALK "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 427 ALK "neuroblastoma, susceptibility to, 3" MONDO:0013083 "ClinGen " 427 ALK "Well Differentiated Thyroid Carcinoma" MONDO_0015447 "Disgenet " 427 ALK Schizophrenias MONDO_0005090 "Disgenet " 427 ALK "Depressive neurosis" MONDO_0002050 "Disgenet " 427 ALK Depression MONDO_0002050 "Disgenet " 427 ALK "Mastitis Carcinomatosa" MONDO_0006804 "Disgenet " 427 ALK "Cancer, Lung" MONDO_0008903 "Disgenet " 427 ALK "Breast Neoplasms" MONDO_0021100 "Disgenet " 427 ALK "Inflammatory Pseudotumors" MONDO_0015798 "Disgenet " 4271 GIPR Obesity MONDO_0019182 "Disgenet " 4271 GIPR "Diabetes Mellitus" MONDO_0005015 "Disgenet " 4271 GIPR "Cardiovascular Disease" MONDO_0004995 "Disgenet " 4274 GJA1 "SYNDACTYLY, TYPE III" MONDO_0008514 "Disgenet " 4274 GJA1 "High blood pressure" MONDO_0005044 "Disgenet " 4274 GJA1 "Erythrokeratodermia variabilis" MONDO_0017851 "Disgenet " 4274 GJA1 "Genetic craniotubular bone dysplasias and hyperostoses" MONDO_0015465 "Disgenet " 4274 GJA1 "ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3" MONDO_0033013 "Disgenet " 4274 GJA1 "CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE" MONDO_0009035 "Disgenet " 4274 GJA1 "Oculo-dento-digital syndrome" MONDO_0008111 "Disgenet " 4274 GJA1 "Hallermann Syndrome" MONDO_0009318 "Disgenet " 4274 GJA1 Adenoma MONDO_0004972 "Disgenet " 4274 GJA1 Syndactyly MONDO_0000151 "Disgenet " 4274 GJA1 Arrhythmia MONDO_0007263 "Disgenet " 4274 GJA1 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 4274 GJA1 "congenital heart disease" MONDO:0005453 "ClinGen " 4274 GJA1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 4274 GJA1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 4274 GJA1 "Hypoplastic left heart syndrome" MONDO_0004933 "Disgenet " 4274 GJA1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 4274 GJA1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 4274 GJA1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 4274 GJA1 "congenital heart disorder" MONDO_0005453 "Disgenet " 4278 GJA4 "Coronary Disease" MONDO_0005010 "Disgenet " 4278 GJA4 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 4278 GJA4 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 4278 GJA4 Angiosarcomas MONDO_0016982 "Disgenet " 4279 GJA5 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 4279 GJA5 "High blood pressure" MONDO_0005044 "Disgenet " 4279 GJA5 "Fallot Tetralogy" MONDO_0008542 "Disgenet " 4279 GJA5 "congenital heart disease" MONDO:0005453 "ClinGen " 4279 GJA5 "ATRIAL STANDSTILL 1" MONDO_0007171 "Disgenet " 428 ALMS1 "Alstrom syndrome" MONDO:0008763 "ClinGen " 428 ALMS1 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 428 ALMS1 "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 428 ALMS1 "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 428 ALMS1 "Alstrom syndrome" MONDO_0008763 "Disgenet " 428 ALMS1 "Leber congenital amaurosis" MONDO_0018998 "Disgenet " 4283 GJB1 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 4283 GJB1 "Peripheral sensory neuropathy" MONDO_0002321 "Disgenet " 4283 GJB1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 4283 GJB1 "Charcot-Marie-Tooth disease X-linked dominant 1" MONDO:0010549 "ClinGen " 4283 GJB1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 4283 GJB1 "Liver Neoplasm" MONDO_0002691 "Disgenet " 4283 GJB1 "Dejerine Sottas Disease" MONDO_0011687 "Disgenet " 4283 GJB1 CMTX1 MONDO_0010549 "Disgenet " 4283 GJB1 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 4283 GJB1 HMSN MONDO_0012250 "Disgenet " 4283 GJB1 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 4283 GJB1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 4284 GJB2 "DEAFNESS, AUTOSOMAL RECESSIVE" MONDO_0019588 "Disgenet " 4284 GJB2 "Severe sensorineural hearing impairment" "Disgenet " 4284 GJB2 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 4284 GJB2 "Congenital malformation of ear, unspecified" MONDO_0007500 "Disgenet " 4284 GJB2 "Linear eccrine naevi with comedones" MONDO_0015635 "Disgenet " 4284 GJB2 "Hearing loss, sensorineural, progressive" "Disgenet " 4284 GJB2 Psoriases MONDO_0005083 "Disgenet " 4284 GJB2 Keratitides MONDO_0003085 "Disgenet " 4284 GJB2 DFNA3A MONDO_0011103 "Disgenet " 4284 GJB2 "Isolated Deafness" MONDO_0019497 "Disgenet " 4284 GJB2 DFNB1A MONDO_0019588 "Disgenet " 4284 GJB2 "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 4284 GJB2 Hypoacusis MONDO_0005365 "Disgenet " 4284 GJB2 "KERATODERMA, PALMOPLANTAR, WITH DEAFNESS" MONDO_0007852 "Disgenet " 4284 GJB2 "Knuckle pads, deafness and leukonychia syndrome" MONDO_0007866 "Disgenet " 4284 GJB2 "Senter syndrome" MONDO_0018781 "Disgenet " 4284 GJB2 KHM MONDO_0007422 "Disgenet " 4284 GJB2 "Sensorineural hearing loss, bilateral" MONDO_0013269 "Disgenet " 4284 GJB2 "Keratitis-ichthyosis-deafness syndrome" MONDO_0018781 "Disgenet " 4288 GJB6 "Ectodermal Dysplasias" MONDO_0019287 "Disgenet " 4288 GJB6 "Isolated Deafness" MONDO_0019497 "Disgenet " 4288 GJB6 DFNB1A MONDO_0019588 "Disgenet " 4288 GJB6 DFNA3B MONDO_0012975 "Disgenet " 4288 GJB6 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 4288 GJB6 "Clouston syndrome" MONDO:0007510 "ClinGen " 4288 GJB6 "Syndrome, Clouston's" MONDO_0007510 "Disgenet " 4288 GJB6 Hypoacusis MONDO_0005365 "Disgenet " 4289 GK "inborn glycerol kinase deficiency" MONDO:0010613 "ClinGen " 4289 GK GKD MONDO_0010613 "Disgenet " 429 ALOX12 Schizophrenias MONDO_0005090 "Disgenet " 4296 GLA "Fabry disease" MONDO:0010526 "ClinGen " 4296 GLA "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 4296 GLA "Anderson Fabry Disease" MONDO_0010526 "Disgenet " 4296 GLA Cardiomyopathy MONDO_0004994 "Disgenet " 4298 GLB1 "Disease, Morquio's" MONDO_0018938 "Disgenet " 4298 GLB1 "Atopic Eczema" MONDO_0011292 "Disgenet " 4298 GLB1 "Gangliosidosis GM1" MONDO_0018149 "Disgenet " 4298 GLB1 "GM1-GANGLIOSIDOSIS, TYPE II" MONDO_0018149 "Disgenet " 4298 GLB1 MPS4B MONDO_0009660 "Disgenet " 4298 GLB1 "mucopolysaccharidosis type 4B" MONDO:0009660 "ClinGen " 4298 GLB1 "GM1 gangliosidosis" MONDO:0018149 "ClinGen " 4298 GLB1 "Dysplasia, Spondyloepiphyseal" MONDO_0016761 "Disgenet " 4298 GLB1 "GM1-GANGLIOSIDOSIS, TYPE III" MONDO_0018149 "Disgenet " 4298 GLB1 "GM1 gangliosidosis, type 1" MONDO_0018149 "Disgenet " 43 TAP1 "MHC class I deficiency" MONDO:0011476 "ClinGen " 43 TAP1 "Malignant neoplasm of cervix uteri" MONDO_0002974 "Disgenet " 43 TAP1 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 43 TAP1 Psoriases MONDO_0005083 "Disgenet " 43 TAP1 Asthma MONDO_0004979 "Disgenet " 43 TAP1 "Tuberculosis, Pulmonary" MONDO_0957462 "Disgenet " 43 TAP1 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 43 TAP1 "Ankylosing spondylitis" MONDO_0005306 "Disgenet " 43 TAP1 "BARE LYMPHOCYTE SYNDROME, TYPE I" MONDO_0011476 "Disgenet " 43 TAP1 Schizophrenias MONDO_0005090 "Disgenet " 430 ALOX12B Ichthyoses MONDO_0019269 "Disgenet " 430 ALOX12B "Congenital Ichthyosiform Erythrodermas" "Disgenet " 430 ALOX12B Ichthyosis MONDO_0015947 "Disgenet " 430 ALOX12B "Ichthyosis, Lamellar" MONDO_0011485 "Disgenet " 430 ALOX12B "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2" MONDO_0009439 "Disgenet " 4311 GCLC "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 4311 GCLC "GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO" MONDO_0009259 "Disgenet " 4311 GCLC "Cystic Fibrosis" MONDO_0009061 "Disgenet " 4311 GCLC "Anemia, Hemolytic" MONDO_0003664 "Disgenet " 4311 GCLC "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 4311 GCLC Schizophrenias MONDO_0005090 "Disgenet " 4311 GCLC "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 4311 GCLC "Lung Neoplasm" MONDO_0002732 "Disgenet " 4312 GCLM "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 4312 GCLM "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 4313 GLDC Obesity MONDO_0019182 "Disgenet " 4313 GLDC "glycine encephalopathy" MONDO:0011612 "ClinGen " 4313 GLDC "Neonatal glycine encephalopathy" MONDO_0017353 "Disgenet " 4313 GLDC NKH MONDO_0958179 "Disgenet " 4315 GLE1 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 4315 GLE1 "LETHAL CONGENITAL CONTRACTURE SYNDROME 1" MONDO_0017436 "Disgenet " 4315 GLE1 "Lethal Arthrogryposis With Anterior Horn Cell Disease" MONDO_0012750 "Disgenet " 4315 GLE1 "amyotrophic lateral sclerosis" MONDO:0004976 "ClinGen " 4317 GLI1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 4317 GLI1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 4317 GLI1 "Cancer, Breast" MONDO_0007254 "Disgenet " 4317 GLI1 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 4317 GLI1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 4317 GLI1 GIST MONDO_0011719 "Disgenet " 4317 GLI1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 4318 GLI2 HPE9 MONDO_0012563 "Disgenet " 4318 GLI2 "Microform holoprosencephaly" MONDO_0017219 "Disgenet " 4318 GLI2 "Pituitary Stalk Interruption Syndrome" MONDO_0019828 "Disgenet " 4318 GLI2 "Lobar holoprosencephaly" MONDO_0016296 "Disgenet " 4318 GLI2 "Neoplasm, Skin" MONDO_0002531 "Disgenet " 4318 GLI2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 4318 GLI2 "CULLER-JONES SYNDROME" MONDO_0014369 "Disgenet " 4318 GLI2 Holoprosencephalies MONDO_0016296 "Disgenet " 4319 GLI3 "Postaxial polydactyly" MONDO_0020927 "Disgenet " 4319 GLI3 PHS MONDO_0007804 "Disgenet " 4319 GLI3 Polydactyly MONDO_0021003 "Disgenet " 4319 GLI3 "Greig's syndrome" MONDO_0008287 "Disgenet " 4319 GLI3 PAPA MONDO_0019673 "Disgenet " 4319 GLI3 "Syndactyly of multiple and unspecified sites" MONDO_0021002 "Disgenet " 4319 GLI3 "POLYDACTYLY, POSTAXIAL, TYPE A1" MONDO_0008266 "Disgenet " 4319 GLI3 Craniosynostosis MONDO_0015469 "Disgenet " 4319 GLI3 Syndactyly MONDO_0000151 "Disgenet " 4319 GLI3 "Hypothalamic hamartoma" MONDO_0009436 "Disgenet " 4319 GLI3 "ACROCALLOSAL SYNDROME" MONDO_0008708 "Disgenet " 4319 GLI3 CRC MONDO_0005335 "Disgenet " 4323 GLO1 "Diseases, Vascular" MONDO_0005385 "Disgenet " 4323 GLO1 "Depressive neurosis" MONDO_0002050 "Disgenet " 4323 GLO1 Melanoma MONDO_0005105 "Disgenet " 4323 GLO1 Schizophrenias MONDO_0005090 "Disgenet " 4323 GLO1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 4323 GLO1 "Anxiety Disorder" MONDO_0005618 "Disgenet " 4323 GLO1 "Childhood autism" MONDO_0005260 "Disgenet " 4323 GLO1 Depression MONDO_0002050 "Disgenet " 4329 GLRB HKPX2 MONDO_0013828 "Disgenet " 4329 GLRB "Moersch Woltmann Syndrome" MONDO_0008491 "Disgenet " 4329 GLRB "Kok disease" MONDO_0021022 "Disgenet " 4331 GLS EIEE71 MONDO_0032678 "Disgenet " 4331 GLS "glutaminase deficiency" MONDO:0600001 "ClinGen " 4331 GLS "infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development" MONDO:0032685 "ClinGen " 4331 GLS "INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT" MONDO_0032685 "Disgenet " 4332 BICRA "COFFIN-SIRIS SYNDROME 12" MONDO_0025699 "Disgenet " 4332 BICRA "Coffin-Siris syndrome" MONDO:0015452 "ClinGen " 4335 GLUD1 "hyperinsulinism-hyperammonemia syndrome" MONDO:0011717 "ClinGen " 4335 GLUD1 Hypoglycemia MONDO_0004946 "Disgenet " 4335 GLUD1 PHHI MONDO_0019010 "Disgenet " 4335 GLUD1 Hyperinsulinism MONDO_0002177 "Disgenet " 4335 GLUD1 HYPERAMMONEMIA "Disgenet " 4335 GLUD1 HHF6 MONDO_0011717 "Disgenet " 4341 GLUL "Liver cell carcinoma" MONDO_0007256 "Disgenet " 4341 GLUL Schizophrenias MONDO_0005090 "Disgenet " 4341 GLUL "Alzheimer Disease" MONDO_0012630 "Disgenet " 4341 GLUL "developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 4341 GLUL "congenital brain dysgenesis due to glutamine synthetase deficiency" MONDO:0012393 "ClinGen " 4341 GLUL Alcoholism MONDO_0002046 "Disgenet " 4341 GLUL "GLUTAMINE DEFICIENCY, CONGENITAL" MONDO_0012393 "Disgenet " 4341 GLUL "Chorea, Huntington" MONDO_0011671 "Disgenet " 4341 GLUL "Affective Disorders" MONDO_0005371 "Disgenet " 4341 GLUL "Depressive neurosis" MONDO_0002050 "Disgenet " 4341 GLUL Psychosis MONDO_0005485 "Disgenet " 4341 GLUL Depression MONDO_0002050 "Disgenet " 4341 GLUL "Encephalopathies, Hepatic" MONDO_0001711 "Disgenet " 43444 MYZAP "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 435 ALOX5 Asthma MONDO_0004979 "Disgenet " 435 ALOX5 Colitides MONDO_0005534 "Disgenet " 435 ALOX5 Endotoxemia "Disgenet " 435 ALOX5 "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 435 ALOX5 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 435 ALOX5 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 435 ALOX5 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 435 ALOX5 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 435 ALOX5 Adenoma MONDO_0004972 "Disgenet " 435 ALOX5 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 435 ALOX5 Atherosclerosis MONDO_0005311 "Disgenet " 435 ALOX5 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 435 ALOX5 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 436 ALOX5AP "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 436 ALOX5AP Atherosclerosis MONDO_0005311 "Disgenet " 436 ALOX5AP Asthma MONDO_0004979 "Disgenet " 436 ALOX5AP "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 436 ALOX5AP "Coronary Disease" MONDO_0005010 "Disgenet " 436 ALOX5AP "Cancer, Breast" MONDO_0007254 "Disgenet " 436 ALOX5AP "Cerebral Infarction" MONDO_0002679 "Disgenet " 4367 GM2A "GM2 gangliosidosis, type AB" MONDO_0010099 "Disgenet " 4367 GM2A "Tay-Sachs disease AB variant" MONDO:0010099 "ClinGen " 4367 GM2A "Tay Sachs Disease" MONDO_0010100 "Disgenet " 4367 GM2A "GM2 gangliosidosis" MONDO_0017720 "Disgenet " 4379 GNA11 "Malignant melanoma of skin" MONDO_0005012 "Disgenet " 4379 GNA11 FBH2 MONDO_0007792 "Disgenet " 4379 GNA11 "MELANOMA, UVEAL" MONDO_0006486 "Disgenet " 4379 GNA11 "CUTIS MARMORATA TELANGIECTATICA CONGENITA" MONDO_0009055 "Disgenet " 4379 GNA11 CMAL MONDO_0016231 "Disgenet " 4379 GNA11 "HYPOCALCEMIA, FAMILIAL" MONDO_0018543 "Disgenet " 4379 GNA11 HYPOC2 MONDO_0014146 "Disgenet " 4379 GNA11 Melanoma MONDO_0005105 "Disgenet " 438 ALPL "HYPOPHOSPHATASIA, CHILDHOOD" MONDO_0018570 "Disgenet " 438 ALPL Hypophosphatasia MONDO_0018570 "Disgenet " 438 ALPL "HYPOPHOSPHATASIA, INFANTILE" "Disgenet " 438 ALPL "HYPOPHOSPHATASIA, ADULT" "Disgenet " 438 ALPL "Skeletal dysplasia" MONDO_0018230 "Disgenet " 438 ALPL ODONTOHYPOPHOSPHATASIA MONDO_0016607 "Disgenet " 438 ALPL "Hyperparathyroidism, Secondary" MONDO_0006964 "Disgenet " 438 ALPL "Diseases, Liver" MONDO_0005154 "Disgenet " 438 ALPL "Bone Disease, Metabolic" MONDO_0800486 "Disgenet " 438 ALPL "ALPL-related autosomal dominant hypophosphatasia" MONDO:0100608 "ClinGen " 438 ALPL "ALPL-related autosomal recessive hypophosphatasia" MONDO:0100609 "ClinGen " 4381 GNA13 "Burkitt Lymphoma" MONDO_0007243 "Disgenet " 4382 GNA14 "Kaposiform Hemangioendothelioma" MONDO_0016236 "Disgenet " 4382 GNA14 "ANGIOMA, TUFTED" MONDO_0011927 "Disgenet " 4382 GNA14 "Pyogenic granuloma" MONDO_0022096 "Disgenet " 4384 GNAI1 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 4384 GNAI1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 4388 GNAL "Dystonia Musculorum Deformans" MONDO_0000476 "Disgenet " 4388 GNAL Schizophrenias MONDO_0005090 "Disgenet " 4388 GNAL "Bipolar Disorders" MONDO_0004985 "Disgenet " 4388 GNAL Dystonia MONDO_0003441 "Disgenet " 4388 GNAL DYT25 MONDO_0014033 "Disgenet " 4389 GNAO1 "Early infantile epileptic encephalopathy with burst-suppression" MONDO_0100062 "Disgenet " 4389 GNAO1 Epilepsies MONDO_0005027 "Disgenet " 4389 GNAO1 "epileptic encephalopathy" "Disgenet " 4389 GNAO1 EIEE17 MONDO_0014199 "Disgenet " 4389 GNAO1 "Movement Disorders" MONDO_0005395 "Disgenet " 4389 GNAO1 Schizophrenias MONDO_0005090 "Disgenet " 4389 GNAO1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 4389 GNAO1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 4389 GNAO1 "NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS" MONDO_0060491 "Disgenet " 4389 GNAO1 "Developmental delay" "Disgenet " 4389 GNAO1 "movement disorder" MONDO:0005395 "ClinGen " 4389 GNAO1 "developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 4389 GNAO1 Dyskinesia MONDO_0003441 "Disgenet " 4389 GNAO1 Choreoathetosis "Disgenet " 4389 GNAO1 Chorea MONDO_0001595 "Disgenet " 4390 GNAQ "Port-wine stain familial multiple" MONDO_0008094 "Disgenet " 4390 GNAQ "Port Wine Stain" MONDO_0008094 "Disgenet " 4390 GNAQ Melanoma MONDO_0005105 "Disgenet " 4390 GNAQ CMAL MONDO_0016231 "Disgenet " 4390 GNAQ "Congestive heart failure" MONDO_0005252 "Disgenet " 4390 GNAQ "Heart failure" MONDO_0005252 "Disgenet " 4390 GNAQ "MELANOMA, UVEAL" MONDO_0006486 "Disgenet " 4390 GNAQ "Sturge Kalischer Weber Syndrome" MONDO_0008501 "Disgenet " 4392 GNAS Obesity MONDO_0019182 "Disgenet " 4392 GNAS "McCune Albright Syndrome" MONDO_0008274 "Disgenet " 4392 GNAS "PSEUDOHYPOPARATHYROIDISM, TYPE IA" MONDO_0007078 "Disgenet " 4392 GNAS Pseudohypoparathyroidism MONDO_0019992 "Disgenet " 4392 GNAS "Pseudo Pseudohypoparathyroidism" MONDO_0012912 "Disgenet " 4392 GNAS "Osteoma cutis" MONDO_0008153 "Disgenet " 4392 GNAS Acromegaly MONDO_0019933 "Disgenet " 4392 GNAS "PSEUDOHYPOPARATHYROIDISM, TYPE IB" MONDO_0019992 "Disgenet " 4392 GNAS Hypocalcemia "Disgenet " 4392 GNAS "Dysplasias, Polyostotic Fibrous" MONDO_0018919 "Disgenet " 4392 GNAS "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 4392 GNAS "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 4392 GNAS "Pancreatic adenocarcinoma" MONDO_0006047 "Disgenet " 4392 GNAS "Breast Neoplasms" MONDO_0021100 "Disgenet " 4392 GNAS "Adrenal Gland Neoplasm" MONDO_0002817 "Disgenet " 4392 GNAS "Adrenal cortical carcinoma" MONDO_0006639 "Disgenet " 4392 GNAS "Dysplasias, Monostotic Fibrous" MONDO_0019665 "Disgenet " 4392 GNAS Cholangiocarcinoma MONDO_0019087 "Disgenet " 4392 GNAS "Unspecified mental retardation" MONDO_0001071 "Disgenet " 4392 GNAS "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 4392 GNAS "Liver cell carcinoma" MONDO_0007256 "Disgenet " 4392 GNAS "Albright's hereditary osteodystrophy" "Disgenet " 4392 GNAS "High blood pressure" MONDO_0005044 "Disgenet " 4392 GNAS PHP1C MONDO_0012911 "Disgenet " 4392 GNAS Schizophrenias MONDO_0005090 "Disgenet " 4392 GNAS "Cognitive Dysfunction" "Disgenet " 4392 GNAS "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 4392 GNAS "Precocious puberty" MONDO_0007690 "Disgenet " 4392 GNAS "Growth Hormone-Secreting Pituitary Adenoma" MONDO_0006238 "Disgenet " 4392 GNAS CRC MONDO_0005335 "Disgenet " 4392 GNAS "ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA" MONDO_0009049 "Disgenet " 4392 GNAS "Cushing Syndrome" MONDO_0003009 "Disgenet " 4392 GNAS "Disease, Endocrine" MONDO_0005151 "Disgenet " 4392 GNAS Brachydactyly MONDO_0021004 "Disgenet " 4395 GNAZ "Liver cell carcinoma" MONDO_0007256 "Disgenet " 4396 GNB1 MRD42 MONDO_0014855 "Disgenet " 4396 GNB1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 4396 GNB1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 4396 GNB1 "intellectual disability, autosomal dominant 42" MONDO:0014855 "ClinGen " 4396 GNB1 "Global developmental delay" "Disgenet " 4397 GNB1L Psychosis MONDO_0005485 "Disgenet " 4397 GNB1L "Unspecified nonorganic psychosis" "Disgenet " 4397 GNB1L Schizophrenias MONDO_0005090 "Disgenet " 4398 GNB2 "Global developmental delay" "Disgenet " 4399 RACK1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 4399 RACK1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 44 TAP2 Schizophrenias MONDO_0005090 "Disgenet " 44 TAP2 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 44 TAP2 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 44 TAP2 "MHC class I deficiency" MONDO:0011476 "ClinGen " 44 TAP2 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 44 TAP2 Psoriases MONDO_0005083 "Disgenet " 44 TAP2 "Ankylosing spondylitis" MONDO_0005306 "Disgenet " 44 TAP2 "Tuberculosis, Pulmonary" MONDO_0957462 "Disgenet " 44 TAP2 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 44 TAP2 "Malignant neoplasm of cervix uteri" MONDO_0002974 "Disgenet " 44 TAP2 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 44 TAP2 "CARCINOMA OF CERVIX" MONDO_0005131 "Disgenet " 44 TAP2 "BARE LYMPHOCYTE SYNDROME, TYPE I" MONDO_0011476 "Disgenet " 4400 GNB3 "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H" MONDO_0014872 "Disgenet " 4400 GNB3 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 4400 GNB3 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 4400 GNB3 "Depressive neurosis" MONDO_0002050 "Disgenet " 4400 GNB3 "Affective Disorders" MONDO_0005371 "Disgenet " 4400 GNB3 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 4400 GNB3 "Essential hypertension" MONDO_0007781 "Disgenet " 4400 GNB3 "High blood pressure" MONDO_0005044 "Disgenet " 4400 GNB3 Obesity MONDO_0019182 "Disgenet " 4400 GNB3 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 4400 GNB3 Depression MONDO_0002050 "Disgenet " 4400 GNB3 Schizophrenias MONDO_0005090 "Disgenet " 4401 GNB5 "Global developmental delay" "Disgenet " 4401 GNB5 "Attention Deficit Disorder with Hyperactivity" MONDO_0100518 "Disgenet " 4401 GNB5 IDDCA MONDO_0014953 "Disgenet " 4401 GNB5 "LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA" MONDO_0014957 "Disgenet " 4415 GNMT "glycine N-methyltransferase deficiency" MONDO:0011698 "ClinGen " 4415 GNMT "Liver cell carcinoma" MONDO_0007256 "Disgenet " 4415 GNMT "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 4415 GNMT "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 4415 GNMT Hypermethioninaemia MONDO_0000351 "Disgenet " 4415 GNMT "Hepatic methionine adenosyltransferase deficiency" MONDO_0000351 "Disgenet " 4415 GNMT "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 4415 GNMT "Chronic hepatitis, unspecified" MONDO_0002251 "Disgenet " 4415 GNMT "Liver Neoplasm" MONDO_0002691 "Disgenet " 4415 GNMT "GLYCINE N-METHYLTRANSFERASE DEFICIENCY" MONDO_0011698 "Disgenet " 4416 GNPAT "RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2" MONDO_0009112 "Disgenet " 4416 GNPAT "Chondrodysplasia Punctata, Rhizomelic" MONDO_0015776 "Disgenet " 4416 GNPAT "glyceronephosphate O-acyltransferase deficiency" MONDO:0100273 "ClinGen " 4419 GNRH1 "High blood pressure" MONDO_0005044 "Disgenet " 4419 GNRH1 Panhypopituitarism MONDO_0019591 "Disgenet " 4419 GNRH1 Hyperprolactinemia MONDO_0005804 "Disgenet " 4419 GNRH1 Hypopituitarism MONDO_0013961 "Disgenet " 4419 GNRH1 IHH MONDO_0007794 "Disgenet " 4419 GNRH1 "Gonadotropin deficiency, familial idiopathic" MONDO_0013914 "Disgenet " 4419 GNRH1 "Hypogonadotropic hypogonadism" MONDO_0014102 "Disgenet " 4419 GNRH1 "Syndrome, Kallmann's" MONDO_0013961 "Disgenet " 4419 GNRH1 "Cancer, Breast" MONDO_0007254 "Disgenet " 4419 GNRH1 "Normosmic congenital hypogonadotropic hypogonadism" MONDO_0018555 "Disgenet " 4419 GNRH1 "Precocious puberty" MONDO_0007690 "Disgenet " 4419 GNRH1 Hypogonadism MONDO_0002146 "Disgenet " 4421 GNRHR "Hypogonadotropic hypogonadism" MONDO_0014102 "Disgenet " 4421 GNRHR IHH MONDO_0007794 "Disgenet " 4421 GNRHR "Normosmic congenital hypogonadotropic hypogonadism" MONDO_0018555 "Disgenet " 4421 GNRHR "Syndrome, Kallmann's" MONDO_0013961 "Disgenet " 4421 GNRHR "Gonadotrophin deficiency" "Disgenet " 4421 GNRHR Hypogonadism MONDO_0002146 "Disgenet " 4421 GNRHR "Isolated gonadotropin-releasing hormone deficiency" MONDO_0016553 "Disgenet " 4421 GNRHR "Isolated lutropin deficiency (disorder)" MONDO_0013961 "Disgenet " 4422 GNS "N-acetylglucosamine-6-sulfate sulfatase deficiency" MONDO_0009658 "Disgenet " 4422 GNS "mucopolysaccharidosis type 3D" MONDO:0009658 "ClinGen " 4422 GNS "Mucopolysaccharidosis III" MONDO_0018937 "Disgenet " 443 ALS2 "Juvenile amyotrophic lateral sclerosis" MONDO_0017593 "Disgenet " 443 ALS2 "Motor Neuron Disease" MONDO_0008780 "Disgenet " 443 ALS2 "ALS2-related motor neuron disease" MONDO:0100227 "ClinGen " 443 ALS2 ALS2 MONDO_0008780 "Disgenet " 443 ALS2 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 443 ALS2 "SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING" MONDO_0011797 "Disgenet " 443 ALS2 PLSJ MONDO_0011663 "Disgenet " 443 ALS2 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 4432 GOT1 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 4432 GOT1 "Pancreatic Infiltrating Duct Carcinoma, NOS" MONDO_0005184 "Disgenet " 4433 GOT2 EIEE82 MONDO_0032880 "Disgenet " 4439 GP1BA "BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT" MONDO_0007930 "Disgenet " 4439 GP1BA "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 4439 GP1BA "platelet-type von Willebrand disease" MONDO:0008332 "ClinGen " 4439 GP1BA "Bernard-Soulier syndrome" MONDO:0009276 "ClinGen " 4439 GP1BA Macrothrombocytopenia "Disgenet " 4439 GP1BA Angiohemophilias MONDO_0013622 "Disgenet " 4439 GP1BA Thrombocytopenia MONDO_0002049 "Disgenet " 4439 GP1BA "PSEUDO-VON WILLEBRAND DISEASE" MONDO_0008332 "Disgenet " 4439 GP1BA "Bernard Soulier Syndrome" MONDO_0009276 "Disgenet " 4439 GP1BA "High blood pressure" MONDO_0005044 "Disgenet " 4440 GP1BB "Bernard-Soulier syndrome" MONDO:0009276 "ClinGen " 4440 GP1BB "Bernard Soulier Syndrome" MONDO_0009276 "Disgenet " 4440 GP1BB "Autosomal dominant macrothrombocytopenia (disorder)" MONDO_0015372 "Disgenet " 4440 GP1BB Thrombocytopenia MONDO_0002049 "Disgenet " 4440 GP1BB Macrothrombocytopenia "Disgenet " 4446 GPAA1 "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15" MONDO_0060627 "Disgenet " 4446 GPAA1 "glycosylphosphatidylinositol biosynthesis defect 15" MONDO:0060627 "ClinGen " 4449 GPC1 "Cancer, Breast" MONDO_0007254 "Disgenet " 4451 GPC3 "Childhood Renal Wilms' Tumor" MONDO_0024676 "Disgenet " 4451 GPC3 Mesothelioma MONDO_0005065 "Disgenet " 4451 GPC3 "Simpson-Golabi-Behmel syndrome (disorder)" MONDO_0010731 "Disgenet " 4451 GPC3 Nephroblastoma MONDO_0019004 "Disgenet " 4451 GPC3 "Simpson-Golabi-Behmel syndrome" MONDO:0010731 "ClinGen " 4451 GPC3 SDYS MONDO_0020602 "Disgenet " 4451 GPC3 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 4452 GPC4 SDYS MONDO_0020602 "Disgenet " 4452 GPC4 "Keipert Syndrome" MONDO_0009720 "Disgenet " 4453 GPC5 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 4454 GPC6 "Omodysplasia (disorder)" MONDO_0017136 "Disgenet " 4454 GPC6 Osteoporoses MONDO_0005298 "Disgenet " 4454 GPC6 "OMODYSPLASIA 1" MONDO_0017136 "Disgenet " 4455 GPD1 "HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE" MONDO_0013771 "Disgenet " 4456 GPD2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 4458 GPI "Unspecified mental retardation" MONDO_0001071 "Disgenet " 4458 GPI "Anemia, Hemolytic, Congenital Nonspherocytic" MONDO_0006506 "Disgenet " 4458 GPI "Breast Neoplasms" MONDO_0021100 "Disgenet " 4458 GPI "Anemia, Hemolytic" MONDO_0003664 "Disgenet " 4458 GPI "Hereditary spherocytosis" MONDO_0019350 "Disgenet " 4458 GPI "Anemia, Congenital Hemolytic" MONDO_0003689 "Disgenet " 4458 GPI "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 4460 GPM6A Schizophrenias MONDO_0005090 "Disgenet " 4460 GPM6A "Liver cell carcinoma" MONDO_0007256 "Disgenet " 4462 GPNMB "Cancer, Breast" MONDO_0007254 "Disgenet " 4462 GPNMB "Breast Neoplasms" MONDO_0021100 "Disgenet " 4462 GPNMB ACD MONDO_0017906 "Disgenet " 4479 MCHR1 Depression MONDO_0002050 "Disgenet " 4479 MCHR1 "Depressive neurosis" MONDO_0002050 "Disgenet " 4479 MCHR1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 4479 MCHR1 "Affective Disorders" MONDO_0005371 "Disgenet " 4479 MCHR1 Schizophrenias MONDO_0005090 "Disgenet " 4485 GPER1 "Fibroid Tumor" MONDO_0001572 "Disgenet " 4485 GPER1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 4498 FFAR1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 45 ABCB4 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 45 ABCB4 "end stage hepatic failure (diagnosis)" MONDO_0100193 "Disgenet " 45 ABCB4 PFIC1 MONDO_0015762 "Disgenet " 45 ABCB4 "Cholestasis of pregnancy" MONDO_0100429 "Disgenet " 45 ABCB4 "GALLBLADDER DISEASE 1" MONDO_0010939 "Disgenet " 45 ABCB4 PFIC3 MONDO_0011214 "Disgenet " 45 ABCB4 "Diseases, Liver" MONDO_0005154 "Disgenet " 45 ABCB4 "Cholangiitides, Sclerosing" MONDO_0018646 "Disgenet " 45 ABCB4 "Liver Cirrhoses, Biliary" MONDO_0005388 "Disgenet " 45 ABCB4 "Byler's syndrome" MONDO_0015762 "Disgenet " 45 ABCB4 "primary biliary cirrhosis" MONDO_0005388 "Disgenet " 45 ABCB4 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 45 ABCB4 "Bile Duct Obstructions" MONDO_0001751 "Disgenet " 45 ABCB4 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 45 ABCB4 "Biliary Stases, Intrahepatic" MONDO_0019072 "Disgenet " 45 ABCB4 "progressive familial intrahepatic cholestasis type 3" MONDO:0011214 "ClinGen " 45 ABCB4 Cholangitides MONDO_0004789 "Disgenet " 45 ABCB4 "CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3" MONDO_0013995 "Disgenet " 450 ALX4 Craniosynostosis MONDO_0015469 "Disgenet " 450 ALX4 "Symmetrical, oval parietal bone defects" MONDO_0018953 "Disgenet " 450 ALX4 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 450 ALX4 "frontonasal dysplasia (diagnosis)" MONDO_0016643 "Disgenet " 450 ALX4 "Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)" MONDO_0013268 "Disgenet " 450 ALX4 "Abnormalities, Craniofacial" "Disgenet " 450 ALX4 P11pDS MONDO_0011022 "Disgenet " 450 ALX4 FND2 MONDO_0013268 "Disgenet " 450 ALX4 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 4502 PTGDR2 Asthma MONDO_0004979 "Disgenet " 4506 GPR50 "Affective Disorders" MONDO_0005371 "Disgenet " 4506 GPR50 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 4506 GPR50 "Bipolar Disorders" MONDO_0004985 "Disgenet " 4506 GPR50 Schizophrenias MONDO_0005090 "Disgenet " 451 AMACR "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 451 AMACR Adenoma MONDO_0004972 "Disgenet " 451 AMACR "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 451 AMACR "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 451 AMACR "ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY" MONDO_0008967 "Disgenet " 451 AMACR "alpha-methylacyl-CoA racemase deficiency" MONDO:0013681 "ClinGen " 451 AMACR "BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4" MONDO_0008967 "Disgenet " 451 AMACR Schizophrenias MONDO_0005090 "Disgenet " 451 AMACR "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 4512 ADGRG1 "bilateral frontoparietal polymicrogyria" MONDO:0011738 "ClinGen " 4512 ADGRG1 "POLYMICROGYRIA, BILATERAL FRONTOPARIETAL" MONDO_0011738 "Disgenet " 4512 ADGRG1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 4516 ADGRG2 "Obstructive azoospermia" "Disgenet " 4516 ADGRG2 CBAVD MONDO_0010178 "Disgenet " 4519 GPR68 "Amelogenesis Imperfecta hypomaturation type" MONDO_0015048 "Disgenet " 4519 GPR68 "Amelogenesis Imperfecta" MONDO_0007092 "Disgenet " 4519 GPR68 AI2A6 MONDO_0014971 "Disgenet " 453 AMBP "Affective Disorders" MONDO_0005371 "Disgenet " 453 AMBP "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 453 AMBP "Acute kidney injury" MONDO_0002492 "Disgenet " 4543 GRK4 "Essential hypertension" MONDO_0007781 "Disgenet " 4544 GRK5 "Cardiovascular Disease" MONDO_0004995 "Disgenet " 4545 GRK6 Schizophrenias MONDO_0005090 "Disgenet " 4545 GRK6 "Parkinson Disease" MONDO_0014796 "Disgenet " 4551 TECR "intellectual disability" MONDO:0001071 "ClinGen " 4551 TECR MRT14 MONDO_0013528 "Disgenet " 4551 TECR "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 4553 GPX1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 4553 GPX1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 4553 GPX1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 4553 GPX1 Hyperthyroidism MONDO_0004425 "Disgenet " 4553 GPX1 "Anemia, Sickle Cell" MONDO_0011382 "Disgenet " 4553 GPX1 "High blood pressure" MONDO_0005044 "Disgenet " 4553 GPX1 Hyperglycemia MONDO_0002909 "Disgenet " 4553 GPX1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 4553 GPX1 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 4553 GPX1 Depression MONDO_0002050 "Disgenet " 4553 GPX1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 4553 GPX1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 4553 GPX1 Anemia MONDO_0002280 "Disgenet " 4553 GPX1 "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 4553 GPX1 "Keshan disease" MONDO_0000241 "Disgenet " 4553 GPX1 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 4553 GPX1 "Coronary Disease" MONDO_0005010 "Disgenet " 4553 GPX1 Hyperinsulinism MONDO_0002177 "Disgenet " 4553 GPX1 "Depressive neurosis" MONDO_0002050 "Disgenet " 4553 GPX1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 4553 GPX1 ALL MONDO_0004967 "Disgenet " 4553 GPX1 "Head and Neck Neoplasms" MONDO_0005586 "Disgenet " 4553 GPX1 Leukemias MONDO_0005059 "Disgenet " 4553 GPX1 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 4553 GPX1 "Malignant neoplasm of larynx" MONDO_0002352 "Disgenet " 4553 GPX1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 4553 GPX1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 4553 GPX1 "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 4553 GPX1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 4553 GPX1 "Childhood autism" MONDO_0005260 "Disgenet " 4553 GPX1 Epilepsies MONDO_0005027 "Disgenet " 4553 GPX1 Osteoporoses MONDO_0005298 "Disgenet " 4553 GPX1 "Cardiovascular Disease" MONDO_0004995 "Disgenet " 4553 GPX1 "Cancer, Breast" MONDO_0007254 "Disgenet " 4553 GPX1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 4553 GPX1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 4553 GPX1 Obesity MONDO_0019182 "Disgenet " 4554 GPX2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 4555 GPX3 Obesity MONDO_0019182 "Disgenet " 4555 GPX3 "High blood pressure" MONDO_0005044 "Disgenet " 4555 GPX3 "Lung Neoplasm" MONDO_0002732 "Disgenet " 4555 GPX3 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 4555 GPX3 "Barrett Esophagus" MONDO_0013662 "Disgenet " 4555 GPX3 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 4555 GPX3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 4555 GPX3 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 4555 GPX3 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 4555 GPX3 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 4556 GPX4 "Breast Neoplasms" MONDO_0021100 "Disgenet " 4556 GPX4 "Fatty Liver" MONDO_0004790 "Disgenet " 4556 GPX4 "Infertility, Male" MONDO_0005372 "Disgenet " 4556 GPX4 "Heart failure" MONDO_0005252 "Disgenet " 4556 GPX4 "SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE" MONDO_0009593 "Disgenet " 4556 GPX4 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 4562 GRAP "DEAFNESS, AUTOSOMAL RECESSIVE 114" MONDO_0032761 "Disgenet " 4565 GRB14 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 4566 GRB2 "Cancer, Breast" MONDO_0007254 "Disgenet " 4566 GRB2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 4566 GRB2 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 4566 GRB2 Schizophrenias MONDO_0005090 "Disgenet " 4567 GRB7 "Breast Neoplasms" MONDO_0021100 "Disgenet " 4570 GRHPR Hyperoxaluria MONDO_0002474 "Disgenet " 4570 GRHPR Nephrocalcinoses MONDO_0001567 "Disgenet " 4570 GRHPR Nephrolithiasis MONDO_0008171 "Disgenet " 4570 GRHPR "HYPEROXALURIA, PRIMARY, TYPE II" MONDO_0009824 "Disgenet " 4570 GRHPR "Hyperoxaluria, Primary" MONDO_0002474 "Disgenet " 4571 GRIA1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 4571 GRIA1 Schizophrenias MONDO_0005090 "Disgenet " 4571 GRIA1 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 4571 GRIA1 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 4571 GRIA1 "Disorder, Schizoaffective" MONDO_0005487 "Disgenet " 4571 GRIA1 "Depressive neurosis" MONDO_0002050 "Disgenet " 4571 GRIA1 Depression MONDO_0002050 "Disgenet " 4572 GRIA2 Schizophrenias MONDO_0005090 "Disgenet " 4572 GRIA2 "Status Epilepticus" MONDO_0002125 "Disgenet " 4572 GRIA2 "NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES" MONDO_0030060 "Disgenet " 4572 GRIA2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 4572 GRIA2 "neurodevelopmental disorder with language impairment and behavioral abnormalities" MONDO:0030060 "ClinGen " 4572 GRIA2 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 4572 GRIA2 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 4572 GRIA2 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 4573 GRIA3 "epileptic encephalopathy" "Disgenet " 4573 GRIA3 Depression MONDO_0002050 "Disgenet " 4573 GRIA3 "Depressive neurosis" MONDO_0002050 "Disgenet " 4573 GRIA3 Schizophrenias MONDO_0005090 "Disgenet " 4573 GRIA3 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 4573 GRIA3 "Bipolar Disorders" MONDO_0004985 "Disgenet " 4573 GRIA3 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 4573 GRIA3 "X-linked complex neurodevelopmental disorder" MONDO:0100148 "ClinGen " 4573 GRIA3 MRX94 MONDO_0010402 "Disgenet " 4575 GRID1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 4575 GRID1 Depression MONDO_0002050 "Disgenet " 4575 GRID1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 4575 GRID1 "Depressive neurosis" MONDO_0002050 "Disgenet " 4575 GRID1 Schizophrenias MONDO_0005090 "Disgenet " 4579 GRIK1 "Alcoholic Intoxication" "Disgenet " 4579 GRIK1 Alcoholism MONDO_0002046 "Disgenet " 4579 GRIK1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 4579 GRIK1 "drink heavy" "Disgenet " 4579 GRIK1 Schizophrenias MONDO_0005090 "Disgenet " 4580 GRIK2 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 4580 GRIK2 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 4580 GRIK2 "Chorea, Huntington" MONDO_0011671 "Disgenet " 4580 GRIK2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 4580 GRIK2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 4580 GRIK2 Schizophrenias MONDO_0005090 "Disgenet " 4580 GRIK2 "Childhood autism" MONDO_0005260 "Disgenet " 4580 GRIK2 "Affective Disorders" MONDO_0005371 "Disgenet " 4581 GRIK3 Schizophrenias MONDO_0005090 "Disgenet " 4581 GRIK3 Alcoholism MONDO_0002046 "Disgenet " 4581 GRIK3 "Depressive neurosis" MONDO_0002050 "Disgenet " 4581 GRIK3 Psychosis MONDO_0005485 "Disgenet " 4581 GRIK3 Depression MONDO_0002050 "Disgenet " 4583 GRIK5 "Bipolar Disorders" MONDO_0004985 "Disgenet " 4583 GRIK5 Schizophrenias MONDO_0005090 "Disgenet " 4584 GRIN1 "Global developmental delay" "Disgenet " 4584 GRIN1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 4584 GRIN1 "Febrile convulsion" "Disgenet " 4584 GRIN1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 4584 GRIN1 "Childhood autism" MONDO_0005260 "Disgenet " 4584 GRIN1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 4584 GRIN1 NDHMSD MONDO_0013655 "Disgenet " 4584 GRIN1 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 4584 GRIN1 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 4584 GRIN1 Alcoholism MONDO_0002046 "Disgenet " 4585 GRIN2A "Speech Disorders" MONDO_0004730 "Disgenet " 4585 GRIN2A CSWS MONDO_0019123 "Disgenet " 4585 GRIN2A Melanoma MONDO_0005105 "Disgenet " 4585 GRIN2A "Epilepsies, Focal" MONDO_0005384 "Disgenet " 4585 GRIN2A "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 4585 GRIN2A "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 4585 GRIN2A "Depressive neurosis" MONDO_0002050 "Disgenet " 4585 GRIN2A "Acquired Epileptic Aphasia" MONDO_0015643 "Disgenet " 4585 GRIN2A Alcoholism MONDO_0002046 "Disgenet " 4585 GRIN2A "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 4585 GRIN2A "epileptic encephalopathy" "Disgenet " 4585 GRIN2A Depression MONDO_0002050 "Disgenet " 4585 GRIN2A "Heroin Dependence" MONDO_0005367 "Disgenet " 4585 GRIN2A "Affective Disorders" MONDO_0005371 "Disgenet " 4585 GRIN2A "Childhood autism" MONDO_0005260 "Disgenet " 4585 GRIN2A "Chorea, Huntington" MONDO_0011671 "Disgenet " 4585 GRIN2A Schizophrenias MONDO_0005090 "Disgenet " 4585 GRIN2A Epilepsies MONDO_0005027 "Disgenet " 4585 GRIN2A "Bipolar Disorders" MONDO_0004985 "Disgenet " 4585 GRIN2A "Global developmental delay" "Disgenet " 4585 GRIN2A "Epilepsies, Rolandic" MONDO_0007295 "Disgenet " 4587 GRIN2C Schizophrenias MONDO_0005090 "Disgenet " 4588 GRIN2D Schizophrenias MONDO_0005090 "Disgenet " 4588 GRIN2D EIEE46 MONDO_0014947 "Disgenet " 4588 GRIN2D "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 4588 GRIN2D Encephalopathy MONDO_0005560 "Disgenet " 4588 GRIN2D "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 4591 ARHGAP35 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 4594 GRM2 Alcoholism MONDO_0002046 "Disgenet " 4594 GRM2 Schizophrenias MONDO_0005090 "Disgenet " 4601 GRN Parkinsonism MONDO_0021095 "Disgenet " 4601 GRN "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 4601 GRN FTDMND MONDO_0007105 "Disgenet " 4601 GRN "Progressive Nonfluent Aphasias" MONDO_0015059 "Disgenet " 4601 GRN "Semantic Dementias" MONDO_0017276 "Disgenet " 4601 GRN "neuronal ceroid lipofuscinosis" MONDO:0016295 "ClinGen " 4601 GRN "frontotemporal dementia and/or amyotrophic lateral sclerosis" MONDO:0030923 "ClinGen " 4601 GRN CLN11 MONDO_0013866 "Disgenet " 4601 GRN "Frontotemporal dementia" MONDO_0017276 "Disgenet " 4601 GRN "Alzheimer Disease" MONDO_0012630 "Disgenet " 4601 GRN "Neuronal ceroid lipofuscinosis" MONDO_0008767 "Disgenet " 4601 GRN "Aphasia, Primary Progressive" MONDO_0017803 "Disgenet " 4601 GRN "Frontotemporal dementia, behavioral variant" MONDO_0017160 "Disgenet " 4601 GRN "Depressive neurosis" MONDO_0002050 "Disgenet " 4601 GRN Schizophrenias MONDO_0005090 "Disgenet " 4601 GRN "Ischemic stroke" "Disgenet " 4601 GRN Depression MONDO_0002050 "Disgenet " 4601 GRN "Bipolar Disorders" MONDO_0004985 "Disgenet " 4601 GRN HDDD MONDO_0011842 "Disgenet " 4601 GRN "Frontotemporal Lobar Degeneration" "Disgenet " 4602 CXCL1 COPD MONDO_0005002 "Disgenet " 4602 CXCL1 Pneumonia MONDO_0005249 "Disgenet " 4602 CXCL1 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 4603 CXCL2 "Acute Lung Injury" MONDO_0015796 "Disgenet " 4603 CXCL2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 4603 CXCL2 COPD MONDO_0005002 "Disgenet " 4609 GRPR "Depressive neurosis" MONDO_0002050 "Disgenet " 4609 GRPR Depression MONDO_0002050 "Disgenet " 4609 GRPR "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 461 AMELX "Amelogenesis Imperfecta" MONDO_0007092 "Disgenet " 461 AMELX "Dentinogenesis Imperfecta" MONDO_0014560 "Disgenet " 461 AMELX "AMELOGENESIS IMPERFECTA, TYPE IE" MONDO_0010521 "Disgenet " 4616 GSK3A "Bipolar Disorders" MONDO_0004985 "Disgenet " 4616 GSK3A Schizophrenias MONDO_0005090 "Disgenet " 4617 GSK3B "Alzheimer Disease" MONDO_0012630 "Disgenet " 4617 GSK3B "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 4617 GSK3B "Bipolar Depression" MONDO_0004985 "Disgenet " 4617 GSK3B "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 4617 GSK3B "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 4617 GSK3B Depression MONDO_0002050 "Disgenet " 4617 GSK3B "Brain Injuries" MONDO_0043510 "Disgenet " 4617 GSK3B "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 4617 GSK3B tauopathy MONDO_0005574 "Disgenet " 4617 GSK3B "Depressive neurosis" MONDO_0002050 "Disgenet " 4617 GSK3B "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 4617 GSK3B "Affective Disorders" MONDO_0005371 "Disgenet " 4617 GSK3B "malignant squamous cell neoplasm of oral cavity (diagnosis)" MONDO_0004958 "Disgenet " 4617 GSK3B "Centrocytic Small-Cell Lymphoma" MONDO_0018876 "Disgenet " 4617 GSK3B "High blood pressure" MONDO_0005044 "Disgenet " 4617 GSK3B "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 4617 GSK3B "Congestive heart failure" MONDO_0005252 "Disgenet " 4617 GSK3B "Acute kidney injury" MONDO_0002492 "Disgenet " 4617 GSK3B "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 4617 GSK3B "Heart failure" MONDO_0005252 "Disgenet " 4617 GSK3B "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 4617 GSK3B "Bipolar Disorders" MONDO_0004985 "Disgenet " 4617 GSK3B Schizophrenias MONDO_0005090 "Disgenet " 4617 GSK3B "Breast Neoplasms" MONDO_0021100 "Disgenet " 4620 GSN "Meretoja syndrome" MONDO_0007097 "Disgenet " 4620 GSN "LATTICE CORNEAL DYSTROPHY, TYPE II" MONDO_0007097 "Disgenet " 4620 GSN Amyloidoses MONDO_0019065 "Disgenet " 4620 GSN "Cancer, Breast" MONDO_0007254 "Disgenet " 4620 GSN Schizophrenias MONDO_0005090 "Disgenet " 4623 GSR "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 4623 GSR Hypoglycemia MONDO_0004946 "Disgenet " 4623 GSR Hyperthyroidism MONDO_0004425 "Disgenet " 4623 GSR "HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY" MONDO_0019531 "Disgenet " 4624 GSS "GLUTATHIONE SYNTHETASE DEFICIENCY" MONDO_0017909 "Disgenet " 4624 GSS "Alzheimer Disease" MONDO_0012630 "Disgenet " 4624 GSS "inherited glutathione synthetase deficiency" MONDO:0017909 "ClinGen " 4624 GSS "GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO" MONDO_0009284 "Disgenet " 4629 GSTA4 "Parkinson Disease" MONDO_0014796 "Disgenet " 463 AMFR "Cancer, Breast" MONDO_0007254 "Disgenet " 463 AMFR "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 463 AMFR "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 4632 GSTM1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 4632 GSTM1 Depression MONDO_0002050 "Disgenet " 4632 GSTM1 Astrocytoma MONDO_0019781 "Disgenet " 4632 GSTM1 Gliomas MONDO_0021042 "Disgenet " 4632 GSTM1 Pterygium MONDO_0005085 "Disgenet " 4632 GSTM1 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 4632 GSTM1 "Depressive neurosis" MONDO_0002050 "Disgenet " 4632 GSTM1 "Skin Disease" MONDO_0005093 "Disgenet " 4632 GSTM1 Mesothelioma MONDO_0005065 "Disgenet " 4632 GSTM1 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 4632 GSTM1 "OVARIAN CANCER, EPITHELIAL" MONDO_0018364 "Disgenet " 4632 GSTM1 Atherosclerosis MONDO_0005311 "Disgenet " 4632 GSTM1 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 4632 GSTM1 "Hodgkin's granuloma" MONDO_0004952 "Disgenet " 4632 GSTM1 "Parkinson Disease" MONDO_0014796 "Disgenet " 4632 GSTM1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 4632 GSTM1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 4632 GSTM1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 4632 GSTM1 Asthma MONDO_0004979 "Disgenet " 4632 GSTM1 "Cancer, Breast" MONDO_0007254 "Disgenet " 4632 GSTM1 "Aplastic anemia" MONDO_0015909 "Disgenet " 4632 GSTM1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 4632 GSTM1 "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 4632 GSTM1 "Disease, Hepatic Veno-Occlusive" MONDO_0019514 "Disgenet " 4632 GSTM1 "adenocarcinoma of large intestine (diagnosis)" MONDO_0005008 "Disgenet " 4632 GSTM1 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 4632 GSTM1 "Osler Vaquez Disease" MONDO_0009891 "Disgenet " 4632 GSTM1 "Malignancies, Second" "Disgenet " 4632 GSTM1 Periodontitides MONDO_0005593 "Disgenet " 4632 GSTM1 "Tuberculosis, Pulmonary" MONDO_0957462 "Disgenet " 4632 GSTM1 Keratoses MONDO_0006566 "Disgenet " 4632 GSTM1 "Liver Neoplasm" MONDO_0002691 "Disgenet " 4632 GSTM1 "Acute chest syndrome" MONDO_0005632 "Disgenet " 4632 GSTM1 "Porphyria cutanea tarda" MONDO_0008296 "Disgenet " 4632 GSTM1 Medulloblastoma MONDO_0007959 "Disgenet " 4632 GSTM1 "Atopic Eczema" MONDO_0011292 "Disgenet " 4632 GSTM1 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 4632 GSTM1 "Cystic Fibrosis" MONDO_0009061 "Disgenet " 4632 GSTM1 "EMD - Exudative macular degeneration" MONDO_0005417 "Disgenet " 4632 GSTM1 "Atresias, Esophageal" MONDO_0008586 "Disgenet " 4632 GSTM1 "Disease, Graft-Versus-Host" MONDO_0013730 "Disgenet " 4632 GSTM1 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 4632 GSTM1 "human papilloma virus infection (diagnosis)" MONDO_0005161 "Disgenet " 4632 GSTM1 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 4632 GSTM1 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 4632 GSTM1 "Fibroses, Oral Submucous" MONDO_0018166 "Disgenet " 4632 GSTM1 "Exfoliation Syndrome" MONDO_0100046 "Disgenet " 4632 GSTM1 "Malignant melanoma of skin" MONDO_0005012 "Disgenet " 4632 GSTM1 "Ulcerative colitis" MONDO_0005101 "Disgenet " 4632 GSTM1 Asbestoses MONDO_0016466 "Disgenet " 4632 GSTM1 "Coronary Disease" MONDO_0005010 "Disgenet " 4632 GSTM1 "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 4632 GSTM1 "Diseases, Lung" MONDO_0005275 "Disgenet " 4632 GSTM1 "Mesothelioma, malignant" MONDO_0006292 "Disgenet " 4632 GSTM1 Leukemias MONDO_0005059 "Disgenet " 4632 GSTM1 "CARCINOMA OF CERVIX" MONDO_0005131 "Disgenet " 4632 GSTM1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 4632 GSTM1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 4632 GSTM1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 4632 GSTM1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 4632 GSTM1 Thalassemia MONDO_0000984 "Disgenet " 4632 GSTM1 ALL MONDO_0004967 "Disgenet " 4632 GSTM1 "Childhood autism" MONDO_0005260 "Disgenet " 4632 GSTM1 neurotoxicity MONDO_0005527 "Disgenet " 4632 GSTM1 "Multiple Myeloma" MONDO_0009693 "Disgenet " 4632 GSTM1 "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 4632 GSTM1 CRC MONDO_0005335 "Disgenet " 4632 GSTM1 "Senile cataract" MONDO_0004847 "Disgenet " 4632 GSTM1 "adenoma of large intestine" MONDO_0005484 "Disgenet " 4632 GSTM1 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 4632 GSTM1 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 4632 GSTM1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 4632 GSTM1 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 4632 GSTM1 "Primary open-angle glaucoma" MONDO_0100553 "Disgenet " 4632 GSTM1 "Head and Neck Neoplasms" MONDO_0005586 "Disgenet " 4632 GSTM1 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 4632 GSTM1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 4632 GSTM1 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 4632 GSTM1 "Malignant neoplasm of cervix uteri" MONDO_0002974 "Disgenet " 4632 GSTM1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 4632 GSTM1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 4632 GSTM1 COPD MONDO_0005002 "Disgenet " 4632 GSTM1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 4632 GSTM1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 4632 GSTM1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 4632 GSTM1 Schizophrenias MONDO_0005090 "Disgenet " 4632 GSTM1 "malignant squamous cell neoplasm of oral cavity (diagnosis)" MONDO_0004958 "Disgenet " 4632 GSTM1 "Malignant neoplasm of larynx" MONDO_0002352 "Disgenet " 4632 GSTM1 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 4634 GSTM2 Schizophrenias MONDO_0005090 "Disgenet " 4634 GSTM2 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 4635 GSTM3 "Cystic Fibrosis" MONDO_0009061 "Disgenet " 4635 GSTM3 "Malignant neoplasm of larynx" MONDO_0002352 "Disgenet " 4635 GSTM3 "Alzheimer Disease" MONDO_0012630 "Disgenet " 4635 GSTM3 Gliomas MONDO_0021042 "Disgenet " 4635 GSTM3 "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 4635 GSTM3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 4635 GSTM3 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 4638 GSTP1 "adenoma of large intestine" MONDO_0005484 "Disgenet " 4638 GSTP1 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 4638 GSTP1 "Lymphoid Leukemias" MONDO_0005402 "Disgenet " 4638 GSTP1 "Senile cataract" MONDO_0004847 "Disgenet " 4638 GSTP1 "EMD - Exudative macular degeneration" MONDO_0005417 "Disgenet " 4638 GSTP1 "Diseases, Liver" MONDO_0005154 "Disgenet " 4638 GSTP1 "Neoplasm, Testicular" MONDO_0005447 "Disgenet " 4638 GSTP1 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 4638 GSTP1 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 4638 GSTP1 "Atopic Eczema" MONDO_0011292 "Disgenet " 4638 GSTP1 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 4638 GSTP1 Astrocytoma MONDO_0019781 "Disgenet " 4638 GSTP1 "Diseases, Lung" MONDO_0005275 "Disgenet " 4638 GSTP1 "Malignant neoplasm of testis" MONDO_0005447 "Disgenet " 4638 GSTP1 "Hodgkin's granuloma" MONDO_0004952 "Disgenet " 4638 GSTP1 "Multiple Myeloma" MONDO_0009693 "Disgenet " 4638 GSTP1 "High blood pressure" MONDO_0005044 "Disgenet " 4638 GSTP1 Schizophrenias MONDO_0005090 "Disgenet " 4638 GSTP1 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 4638 GSTP1 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 4638 GSTP1 "Childhood autism" MONDO_0005260 "Disgenet " 4638 GSTP1 Psychosis MONDO_0005485 "Disgenet " 4638 GSTP1 "Unspecified nonorganic psychosis" "Disgenet " 4638 GSTP1 Asthma MONDO_0004979 "Disgenet " 4638 GSTP1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 4638 GSTP1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 4638 GSTP1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 4638 GSTP1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 4638 GSTP1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 4638 GSTP1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 4638 GSTP1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 4638 GSTP1 Gliomas MONDO_0021042 "Disgenet " 4638 GSTP1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 4638 GSTP1 "Parkinson Disease" MONDO_0014796 "Disgenet " 4638 GSTP1 "Cancer, Breast" MONDO_0007254 "Disgenet " 4638 GSTP1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 4638 GSTP1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 4638 GSTP1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 4638 GSTP1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 4638 GSTP1 neurotoxicity MONDO_0005527 "Disgenet " 4638 GSTP1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 4638 GSTP1 Carcinoma MONDO_0004993 "Disgenet " 4638 GSTP1 "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 4638 GSTP1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 4638 GSTP1 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 4638 GSTP1 "Glioma, malignant" MONDO_0100342 "Disgenet " 4638 GSTP1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 4638 GSTP1 "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 4638 GSTP1 hypernephroma MONDO_0005086 "Disgenet " 4638 GSTP1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 4638 GSTP1 Melanoma MONDO_0005105 "Disgenet " 4638 GSTP1 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 4638 GSTP1 ALL MONDO_0004967 "Disgenet " 4638 GSTP1 COPD MONDO_0005002 "Disgenet " 4638 GSTP1 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 4638 GSTP1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 464 AMH "PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II" MONDO_0009857 "Disgenet " 464 AMH "sex development disorder" MONDO_0002145 "Disgenet " 464 AMH "OVARIAN CANCER, EPITHELIAL" MONDO_0018364 "Disgenet " 4643 GSTZ1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 4643 GSTZ1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 4643 GSTZ1 "MALEYLACETOACETATE ISOMERASE DEFICIENCY" MONDO_0060527 "Disgenet " 4643 GSTZ1 "maleylacetoacetate isomerase deficiency" MONDO:0060527 "ClinGen " 4651 GTF2E2 "Trichothiodystrophy Syndrome" MONDO_0002470 "Disgenet " 4651 GTF2E2 "TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE" MONDO_0014841 "Disgenet " 4659 GTF2I "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 4659 GTF2I "Syndrome, Williams" MONDO_0008678 "Disgenet " 4659 GTF2I "Sjogren's Syndrome" MONDO_0010030 "Disgenet " 4659 GTF2I "Thymic epithelial tumor" MONDO_0018079 "Disgenet " 4661 GTF2IRD1 "Abnormalities, Craniofacial" "Disgenet " 4661 GTF2IRD1 "Syndrome, Williams" MONDO_0008678 "Disgenet " 467 AMMECR1 "AMME COMPLEX" MONDO_0010263 "Disgenet " 467 AMMECR1 "MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS" MONDO_0010516 "Disgenet " 4670 GTPBP2 "Jaberi-Elahi syndrome" MONDO:0060711 "ClinGen " 4679 GUCA1B "RETINITIS PIGMENTOSA 48" MONDO_0013447 "Disgenet " 4679 GUCA1B "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 4679 GUCA1B "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 4679 GUCA1B "Retinal dystrophy" MONDO_0019118 "Disgenet " 468 AMPD1 CRC MONDO_0005335 "Disgenet " 468 AMPD1 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 468 AMPD1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 468 AMPD1 "Congestive heart failure" MONDO_0005252 "Disgenet " 468 AMPD1 "Heart failure" MONDO_0005252 "Disgenet " 468 AMPD1 Myopathy MONDO_0003939 "Disgenet " 468 AMPD1 "Adenosine monophosphate deaminase deficiency" MONDO_0013028 "Disgenet " 4685 GUCY1A1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 4685 GUCY1A1 "Moyamoya Disease" MONDO_0016820 "Disgenet " 4685 GUCY1A1 "High blood pressure" MONDO_0005044 "Disgenet " 469 AMPD2 SPG63 MONDO_0014305 "Disgenet " 469 AMPD2 "PONTOCEREBELLAR HYPOPLASIA, TYPE 9" MONDO_0014351 "Disgenet " 4696 GUSB "Disease, Sly" MONDO_0009662 "Disgenet " 4696 GUSB "Nonimmune hydrops" MONDO_0009369 "Disgenet " 4696 GUSB "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 4696 GUSB "mucopolysaccharidosis type 7" MONDO:0009662 "ClinGen " 4699 GYG1 "polyglucosan body myopathy type 2" MONDO:0014526 "ClinGen " 4699 GYG1 "POLYGLUCOSAN BODY MYOPATHY 2" MONDO_0014526 "Disgenet " 4699 GYG1 "Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder)" MONDO_0013291 "Disgenet " 4699 GYG1 "Diseases, Glycogen Storage" MONDO_0010362 "Disgenet " 4699 GYG1 GSD15 MONDO_0013291 "Disgenet " 47 ABCB6 "Dyschromatosis universalis hereditaria" MONDO_0000736 "Disgenet " 47 ABCB6 "dyschromatosis universalis hereditaria 3" MONDO:0014169 "ClinGen " 47 ABCB6 "microphthalmia, isolated, with coloboma 7" MONDO:0013783 "ClinGen " 47 ABCB6 "Cancer, Breast" MONDO_0007254 "Disgenet " 47 ABCB6 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 47 ABCB6 "Familial pseudohyperkalemia (disorder)" MONDO_0012204 "Disgenet " 47 ABCB6 "DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3" MONDO_0014169 "Disgenet " 470 AMPD3 "ERYTHROCYTE AMP DEAMINASE DEFICIENCY" "Disgenet " 4704 GYPC "Infection, Plasmodium" MONDO_0005136 "Disgenet " 4704 GYPC "Elliptocytoses, Hereditary" MONDO_0008165 "Disgenet " 4705 GYPE Depression MONDO_0002050 "Disgenet " 4705 GYPE "Depressive neurosis" MONDO_0002050 "Disgenet " 4706 GYS1 "Diseases, Glycogen Storage" MONDO_0010362 "Disgenet " 4706 GYS1 "glycogen storage disease due to muscle and heart glycogen synthase deficiency" MONDO:0012693 "ClinGen " 4707 GYS2 "GLYCOGEN STORAGE DISEASE 0, LIVER" MONDO_0009414 "Disgenet " 4707 GYS2 "glycogen storage disorder due to hepatic glycogen synthase deficiency" MONDO:0009414 "ClinGen " 4707 GYS2 "Diseases, Glycogen Storage" MONDO_0010362 "Disgenet " 4707 GYS2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 4709 GZMB "Breast Neoplasms" MONDO_0021100 "Disgenet " 4713 H19 "Childhood Renal Wilms' Tumor" MONDO_0024676 "Disgenet " 4713 H19 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 4713 H19 "Breast Neoplasms" MONDO_0021100 "Disgenet " 4713 H19 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 4713 H19 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 4713 H19 "Heart failure" MONDO_0005252 "Disgenet " 4713 H19 "Congestive heart failure" MONDO_0005252 "Disgenet " 4713 H19 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 4713 H19 HHP MONDO_0009331 "Disgenet " 4713 H19 Nephroblastoma MONDO_0019004 "Disgenet " 4713 H19 "Cancer, Breast" MONDO_0007254 "Disgenet " 4713 H19 RSS MONDO_0008394 "Disgenet " 4713 H19 carcinogenesis "Disgenet " 4716 H1-2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 4718 H1-4 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 4718 H1-4 "RAHMAN SYNDROME" MONDO_0044323 "Disgenet " 4718 H1-4 "syndromic intellectual disability" MONDO:0000508 "ClinGen " 473 AMT "glycine encephalopathy" MONDO:0011612 "ClinGen " 473 AMT NKH MONDO_0958179 "Disgenet " 4739 H2AX Glioblastoma MONDO_0018177 "Disgenet " 4739 H2AX Schizophrenias MONDO_0005090 "Disgenet " 4739 H2AX "Breast Neoplasms" MONDO_0021100 "Disgenet " 4764 H3-3A Gliomas MONDO_0021042 "Disgenet " 4764 H3-3A "Giant Cell Tumor of Bone" MONDO_0005674 "Disgenet " 4764 H3-3A "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 4764 H3-3A BRYLIB1 MONDO_0031200 "Disgenet " 4764 H3-3A "glioma of brain stem (diagnosis)" MONDO_0002911 "Disgenet " 4764 H3-3A "Glioma, malignant" MONDO_0100342 "Disgenet " 4764 H3-3A "Bryant-Li-Bhoj neurodevelopmental syndrome 1" MONDO:0030606 "ClinGen " 4764 H3-3A Glioblastoma MONDO_0018177 "Disgenet " 4765 H3-3B Chondroblastoma MONDO_0004997 "Disgenet " 4790 H4C5 "Tessadori-Van Haaften neurodevelopmental syndrome 3" MONDO:0030993 "ClinGen " 4795 H6PD CORTRD1 MONDO_0011503 "Disgenet " 4795 H6PD "Breast Neoplasms" MONDO_0021100 "Disgenet " 4795 H6PD "Cortisone reductase deficiency" MONDO_0000193 "Disgenet " 4796 HAAO "vertebral, cardiac, renal, and limb defects syndrome 1" MONDO:0060554 "ClinGen " 4799 HADH "Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency" MONDO_0012382 "Disgenet " 4799 HADH "HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4" MONDO_0012382 "Disgenet " 4799 HADH "obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" MONDO:0009278 "ClinGen " 4799 HADH Hyperinsulinism MONDO_0002177 "Disgenet " 4799 HADH "3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY" MONDO_0017715 "Disgenet " 4799 HADH Obesity MONDO_0019182 "Disgenet " 4799 HADH "Hyperinsulinemic hypoglycemia" MONDO_0005803 "Disgenet " 48 ABCB7 "Anemia, Sideroblastic" MONDO_0015194 "Disgenet " 48 ABCB7 "ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA" MONDO_0010524 "Disgenet " 48 ABCB7 "mitochondrial disease" MONDO:0044970 "ClinGen " 4800 HSD17B10 "HSD10 mitochondrial disease" MONDO:0010327 "ClinGen " 4800 HSD17B10 "Chorioathetosis With Mental Retardation And Abnormal Behavior" MONDO_0010327 "Disgenet " 4801 HADHA "LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY" MONDO_0012172 "Disgenet " 4801 HADHA "Mitochondrial Trifunctional Protein Deficiency" MONDO_0012172 "Disgenet " 4801 HADHA "long chain 3-hydroxyacyl-CoA dehydrogenase deficiency" MONDO:0012173 "ClinGen " 4801 HADHA "Acute fatty liver of pregnancy" MONDO_0016573 "Disgenet " 4801 HADHA "Fatty Liver" MONDO_0004790 "Disgenet " 4803 HADHB "Mitochondrial Trifunctional Protein Deficiency" MONDO_0012172 "Disgenet " 4803 HADHB "mitochondrial trifunctional protein deficiency" MONDO:0012172 "ClinGen " 4803 HADHB "Charcot Marie Disease" MONDO_0011687 "Disgenet " 4803 HADHB "Fatty Liver" MONDO_0004790 "Disgenet " 4806 HAL histidinemia MONDO_0009345 "Disgenet " 4806 HAL histidinemia MONDO:0009345 "ClinGen " 4807 HAND1 "congenital heart disease" MONDO:0005453 "ClinGen " 4807 HAND1 "congenital heart disorder" MONDO_0005453 "Disgenet " 4807 HAND1 "Hypoplastic left heart syndrome" MONDO_0004933 "Disgenet " 4808 HAND2 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 4808 HAND2 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 4808 HAND2 "HAND2 related congenital heart defect" MONDO:0800476 "ClinGen " 4808 HAND2 "Fallot Tetralogy" MONDO_0008542 "Disgenet " 4808 HAND2 Neuroblastoma MONDO_0005072 "Disgenet " 4814 KALRN "Cancer, Breast" MONDO_0007254 "Disgenet " 4814 KALRN "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 4817 HARS2 "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 4817 HARS2 "PERRAULT SYNDROME 2" MONDO_0017312 "Disgenet " 4817 HARS2 "Perrault syndrome" MONDO_0017312 "Disgenet " 4817 HARS2 "Perrault syndrome 2" MONDO:0013972 "ClinGen " 4819 HAS2 "congenital heart disease" MONDO:0005453 "ClinGen " 4823 HBA1 "ERYTHROCYTOSIS, ALPHA-GLOBIN TYPE" MONDO_0054802 "Disgenet " 4823 HBA1 "methemoglobinemia, alpha type" MONDO:0020835 "ClinGen " 4823 HBA1 "unstable hemoglobin disease" MONDO:0020459 "ClinGen " 4823 HBA1 "erythrocytosis, familial, 7" MONDO:0054802 "ClinGen " 4823 HBA1 "HBA1-related alpha thalassemia spectrum" MONDO:0100561 "ClinGen " 4823 HBA1 "alpha+ Thalassemia, NOS" "Disgenet " 4823 HBA1 "hemoglobin M disease (diagnosis)" MONDO_0018023 "Disgenet " 4823 HBA1 Carcinoma MONDO_0004993 "Disgenet " 4823 HBA1 HBHR MONDO_0007716 "Disgenet " 4823 HBA1 "Hemoglobin H constant spring thalassemia (disorder)" MONDO_0013512 "Disgenet " 4823 HBA1 "HEINZ BODY ANEMIAS" MONDO_0007705 "Disgenet " 4823 HBA1 "Severe alpha thalassemia" MONDO_0013512 "Disgenet " 4823 HBA1 "Osler Vaquez Disease" MONDO_0009891 "Disgenet " 4823 HBA1 "Cerebral Infarction" MONDO_0002679 "Disgenet " 4823 HBA1 Methemoglobinemia MONDO_0001117 "Disgenet " 4823 HBA1 Polycythemias MONDO_0009892 "Disgenet " 4823 HBA1 "Bart's disease" MONDO_0007716 "Disgenet " 4823 HBA1 "hemoglobin H disease (diagnosis)" MONDO_0013512 "Disgenet " 4823 HBA1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 4823 HBA1 alpha-Thalassemia MONDO_0011399 "Disgenet " 4823 HBA1 Anemia MONDO_0002280 "Disgenet " 4824 HBA2 Anemia MONDO_0002280 "Disgenet " 4824 HBA2 beta-Thalassemia MONDO_0013517 "Disgenet " 4824 HBA2 alpha-Thalassemia MONDO_0011399 "Disgenet " 4824 HBA2 "hemoglobin H disease (diagnosis)" MONDO_0013512 "Disgenet " 4824 HBA2 "ERYTHROCYTOSIS, ALPHA-GLOBIN TYPE" MONDO_0054802 "Disgenet " 4824 HBA2 "methemoglobinemia, alpha type" MONDO:0020835 "ClinGen " 4824 HBA2 "erythrocytosis, familial, 7" MONDO:0054802 "ClinGen " 4824 HBA2 "alpha thalassemia spectrum" MONDO:0011399 "ClinGen " 4824 HBA2 "unstable hemoglobin disease" MONDO:0020459 "ClinGen " 4824 HBA2 HBHR MONDO_0007716 "Disgenet " 4824 HBA2 "hemoglobin M disease (diagnosis)" MONDO_0018023 "Disgenet " 4824 HBA2 "alpha+ Thalassemia, NOS" "Disgenet " 4824 HBA2 "Alpha trait thalassemia" MONDO_0044210 "Disgenet " 4824 HBA2 "Bart's disease" MONDO_0007716 "Disgenet " 4824 HBA2 "Severe alpha thalassemia" MONDO_0013512 "Disgenet " 4824 HBA2 "Hemoglobin H constant spring thalassemia (disorder)" MONDO_0013512 "Disgenet " 4824 HBA2 "HEINZ BODY ANEMIAS" MONDO_0007705 "Disgenet " 4827 HBB "hemoglobin M disease (diagnosis)" MONDO_0018023 "Disgenet " 4827 HBB "Hemoglobin SD disease" MONDO_0016670 "Disgenet " 4827 HBB "Hereditary persistence of fetal hemoglobin thalassemia" MONDO_0018749 "Disgenet " 4827 HBB Polycythemias MONDO_0009892 "Disgenet " 4827 HBB "Beta Thalassemia, Dominant Inclusion Body Type" MONDO_0011381 "Disgenet " 4827 HBB "Disease, Hemoglobin SC" MONDO_0016669 "Disgenet " 4827 HBB "Infection, Plasmodium" MONDO_0005136 "Disgenet " 4827 HBB alpha-Thalassemia MONDO_0011399 "Disgenet " 4827 HBB Hemoglobinopathy MONDO_0044348 "Disgenet " 4827 HBB "Anemia, Sickle Cell" MONDO_0011382 "Disgenet " 4827 HBB Anemia MONDO_0002280 "Disgenet " 4827 HBB beta-Thalassemia MONDO_0013517 "Disgenet " 4827 HBB "Delta-beta thalassaemia" MONDO_0016489 "Disgenet " 4827 HBB "Anemia, Congenital Hemolytic" MONDO_0003689 "Disgenet " 4827 HBB "obsolete sickle cell disease and related diseases" MONDO:0017146 "ClinGen " 4827 HBB "hemoglobin M disease" MONDO:0018023 "ClinGen " 4827 HBB "beta-thalassemia HBB/LCRB" MONDO:0013517 "ClinGen " 4827 HBB "dominant beta-thalassemia" MONDO:0011381 "ClinGen " 4827 HBB "erythrocytosis, familial, 6" MONDO:0054801 "ClinGen " 4827 HBB "unstable hemoglobin disease" MONDO:0020459 "ClinGen " 4827 HBB "ERYTHROCYTOSIS, BETA-GLOBIN TYPE" MONDO_0054801 "Disgenet " 4827 HBB "Hemoglobin E-beta thalassemia" MONDO_0016491 "Disgenet " 4827 HBB "Haemoglobin E disease" MONDO_0016243 "Disgenet " 4827 HBB "Thalassemia intermedia" MONDO_0019402 "Disgenet " 4827 HBB "HEINZ BODY ANEMIAS" MONDO_0007705 "Disgenet " 4827 HBB "Non-Shiga-Like Toxin-Associated HUSs" MONDO_0016244 "Disgenet " 4827 HBB "Acute chest syndrome" MONDO_0005632 "Disgenet " 4827 HBB Methemoglobinemia MONDO_0001117 "Disgenet " 4827 HBB "Anemia, Hemolytic" MONDO_0003664 "Disgenet " 4827 HBB "beta0 Thalassemia, NOS" "Disgenet " 4827 HBB "Disease, Hemoglobin F" MONDO_0020989 "Disgenet " 4827 HBB "Cooley's anemia" MONDO_0019402 "Disgenet " 4827 HBB "BETA-THALASSEMIA INTERMEDIA" MONDO_0016487 "Disgenet " 4827 HBB "C Disease, Hemoglobin" MONDO_0016242 "Disgenet " 4827 HBB "Osler Vaquez Disease" MONDO_0009891 "Disgenet " 4827 HBB "Malaria, Falciparum" MONDO_0005920 "Disgenet " 4827 HBB "sickle beta-thalassemia (diagnosis)" MONDO_0016668 "Disgenet " 4829 HBD "Delta-beta thalassaemia" MONDO_0016489 "Disgenet " 4829 HBD Thalassemia MONDO_0000984 "Disgenet " 4829 HBD delta-Thalassemias "Disgenet " 483 ANG "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 483 ANG "Frontotemporal dementia" MONDO_0017276 "Disgenet " 483 ANG "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 483 ANG "amyotrophic lateral sclerosis type 9" MONDO:0012753 "ClinGen " 483 ANG ALS9 MONDO_0012753 "Disgenet " 483 ANG "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 483 ANG "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 483 ANG "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 483 ANG "Parkinson Disease" MONDO_0014796 "Disgenet " 4830 HBE1 "Anemia, Sickle Cell" MONDO_0011382 "Disgenet " 4837 HCCS MCOPS7 MONDO_0010672 "Disgenet " 4837 HCCS Microphthalmos MONDO_0021129 "Disgenet " 4839 HCFC1 MRX3 MONDO_0010657 "Disgenet " 4839 HCFC1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 4839 HCFC1 "X-linked intellectual disability" MONDO:0100284 "ClinGen " 4839 HCFC1 "X LINKED MENTAL RETARDATION DIS" MONDO_0010341 "Disgenet " 484 ANGPT1 "Primary congenital glaucoma" MONDO_0000365 "Disgenet " 484 ANGPT1 "High blood pressure" MONDO_0005044 "Disgenet " 484 ANGPT1 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 484 ANGPT1 Sepsis MONDO_0005229 "Disgenet " 484 ANGPT1 "hereditary angioneurotic edema" MONDO_0019623 "Disgenet " 484 ANGPT1 "primary congenital glaucoma" MONDO:0000365 "ClinGen " 4840 HCK ALL MONDO_0004967 "Disgenet " 4845 HCN1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 4845 HCN1 "Febrile convulsion" "Disgenet " 4845 HCN1 "Depressive neurosis" MONDO_0002050 "Disgenet " 4845 HCN1 "generalized epilepsy with febrile seizures plus" MONDO:0018214 "ClinGen " 4845 HCN1 Epilepsies MONDO_0005027 "Disgenet " 4845 HCN1 "Early infantile epileptic encephalopathy with burst-suppression" MONDO_0100062 "Disgenet " 4845 HCN1 "GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10" MONDO_0032777 "Disgenet " 4845 HCN1 EIEE24 MONDO_0014377 "Disgenet " 4845 HCN1 "epileptic encephalopathy" "Disgenet " 4847 HCRT "Degenerative disease of nervous system, unspecified" MONDO_0005559 "Disgenet " 4847 HCRT Depression MONDO_0002050 "Disgenet " 4847 HCRT Narcolepsy MONDO_0019371 "Disgenet " 4847 HCRT "Depressive neurosis" MONDO_0002050 "Disgenet " 4847 HCRT Obesity MONDO_0019182 "Disgenet " 4847 HCRT "Narcolepsy type 1" MONDO_0016158 "Disgenet " 485 ANGPT2 Angiosarcomas MONDO_0016982 "Disgenet " 485 ANGPT2 "Milroys Disease" MONDO_0019313 "Disgenet " 4851 HTT "Huntington disease" MONDO:0007739 "ClinGen " 4851 HTT "Parkinson Disease" MONDO_0014796 "Disgenet " 4851 HTT Depression MONDO_0002050 "Disgenet " 4851 HTT "Movement Disorders" MONDO_0005395 "Disgenet " 4851 HTT "Affective Disorders" MONDO_0005371 "Disgenet " 4851 HTT "HUNTINGTON DIS JUVENILE ONSET" MONDO_0016621 "Disgenet " 4851 HTT "Depressive neurosis" MONDO_0002050 "Disgenet " 4851 HTT "Chorea, Huntington" MONDO_0011671 "Disgenet " 4852 HDAC1 "congenital heart disease" MONDO:0005453 "ClinGen " 4852 HDAC1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 4852 HDAC1 Schizophrenias MONDO_0005090 "Disgenet " 4852 HDAC1 Endometrioses MONDO_0005133 "Disgenet " 4852 HDAC1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 4853 HDAC2 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 4853 HDAC2 Schizophrenias MONDO_0005090 "Disgenet " 4853 HDAC2 Endometrioses MONDO_0005133 "Disgenet " 4853 HDAC2 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 4853 HDAC2 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 4853 HDAC2 Melanoma MONDO_0005105 "Disgenet " 4853 HDAC2 Depression MONDO_0002050 "Disgenet " 4853 HDAC2 Alcoholism MONDO_0002046 "Disgenet " 4853 HDAC2 "Affective Disorders" MONDO_0005371 "Disgenet " 4853 HDAC2 COPD MONDO_0005002 "Disgenet " 4854 HDAC3 Schizophrenias MONDO_0005090 "Disgenet " 4854 HDAC3 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 4854 HDAC3 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 4855 HDC CRC MONDO_0005335 "Disgenet " 4855 HDC Rhinitides MONDO_0003014 "Disgenet " 4855 HDC Asthma MONDO_0004979 "Disgenet " 4855 HDC "Gilles de la Tourette's syndrome" MONDO_0007661 "Disgenet " 4857 HDLBP "Cancer, Breast" MONDO_0007254 "Disgenet " 4861 HELLS CIID MONDO_0000133 "Disgenet " 4861 HELLS "IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4" MONDO_0014829 "Disgenet " 4861 HELLS "immunodeficiency-centromeric instability-facial anomalies syndrome 4" MONDO:0014829 "ClinGen " 4862 NCKAP1L IMD72 MONDO_0033551 "Disgenet " 4867 HERC1 "MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION" MONDO_0014863 "Disgenet " 4867 HERC1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 4868 HERC2 "Ulcerative colitis" MONDO_0005101 "Disgenet " 4868 HERC2 MRT38 MONDO_0014224 "Disgenet " 4868 HERC2 "Global developmental delay" "Disgenet " 4868 HERC2 "Prader Willi Syndrome" MONDO_0008300 "Disgenet " 4877 HESX1 "Septo-optic dysplasia" MONDO_0008428 "Disgenet " 4877 HESX1 Panhypopituitarism MONDO_0019591 "Disgenet " 4877 HESX1 "Syndrome, Kallmann's" MONDO_0013961 "Disgenet " 4877 HESX1 "Pituitary Stalk Interruption Syndrome" MONDO_0019828 "Disgenet " 4878 HEXA "GM2 gangliosidosis, type AB" MONDO_0010099 "Disgenet " 4878 HEXA "Tay Sachs Disease" MONDO_0010100 "Disgenet " 4878 HEXA "Tay-Sachs disease" MONDO:0010100 "ClinGen " 4879 HEXB "Sandhoff disease" MONDO:0010006 "ClinGen " 4879 HEXB "SANDHOFF DISEASE, INFANTILE TYPE" MONDO_0010006 "Disgenet " 4879 HEXB "SANDHOFF DISEASE, ADULT TYPE" MONDO_0010006 "Disgenet " 4879 HEXB "SANDHOFF DISEASE, JUVENILE TYPE" MONDO_0010006 "Disgenet " 4879 HEXB "Sandhoff Disease" MONDO_0010006 "Disgenet " 4880 HEY1 "congenital heart disease" MONDO:0005453 "ClinGen " 4880 HEY1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 4880 HEY1 Glioblastoma MONDO_0018177 "Disgenet " 4881 HEY2 "congenital heart disease" MONDO:0005453 "ClinGen " 4881 HEY2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 4881 HEY2 "congenital heart disorder" MONDO_0005453 "Disgenet " 4881 HEY2 "Brugada Syndrome" MONDO_0015263 "Disgenet " 4882 HEYL "Breast Neoplasms" MONDO_0021100 "Disgenet " 4883 CFH "Meningococcal infection" MONDO_0005373 "Disgenet " 4883 CFH "Basal laminar drusen (disorder)" MONDO_0007472 "Disgenet " 4883 CFH "Non-Shiga-Like Toxin-Associated HUSs" MONDO_0016244 "Disgenet " 4883 CFH "Gassers Syndrome" MONDO_0001549 "Disgenet " 4883 CFH "COMPLEMENT FACTOR H DEFICIENCY" MONDO_0012350 "Disgenet " 4883 CFH "Degeneration, Macular" MONDO_0003004 "Disgenet " 4883 CFH "atypical hemolytic-uremic syndrome" MONDO:0016244 "ClinGen " 4883 CFH "C3 glomerulonephritis" MONDO:0013892 "ClinGen " 4883 CFH "Membranoproliferative glomerulonephritis type II" MONDO_0002461 "Disgenet " 4883 CFH "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 4883 CFH "Retinal Drusen" MONDO_0006949 "Disgenet " 4883 CFH ARMD4 MONDO_0012540 "Disgenet " 4883 CFH "Uveitis, Posterior" MONDO_0001280 "Disgenet " 4883 CFH "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 4883 CFH "C3 Glomerulonephritis" MONDO_0013892 "Disgenet " 4883 CFH "Chronic renal disease" MONDO_0005300 "Disgenet " 4883 CFH "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 4883 CFH "Anterior Uveitides" MONDO_0006651 "Disgenet " 4883 CFH "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 4883 CFH "Familial Atypical Hemolytic Uremic Syndrome" "Disgenet " 4883 CFH "Glomerulonephritides, Membranoproliferative" MONDO_0018904 "Disgenet " 4883 CFH "Thrombotic microangiopathy" MONDO_0019737 "Disgenet " 4883 CFH Nephropathy MONDO_0005240 "Disgenet " 4883 CFH "Glomerulonephritides, Lupus" MONDO_0005556 "Disgenet " 4883 CFH "C3 glomerulopathy" MONDO_0018013 "Disgenet " 4883 CFH "Cardiovascular Disease" MONDO_0004995 "Disgenet " 4886 HFE "Diabetes Mellitus" MONDO_0005015 "Disgenet " 4886 HFE beta-Thalassemia MONDO_0013517 "Disgenet " 4886 HFE HFE MONDO_0006507 "Disgenet " 4886 HFE Hemochromatosis MONDO_0001436 "Disgenet " 4886 HFE "Parkinson Disease" MONDO_0014796 "Disgenet " 4886 HFE "Hepatitis C" MONDO_0005231 "Disgenet " 4886 HFE JH MONDO_0019257 "Disgenet " 4886 HFE "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 4886 HFE "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 4886 HFE "Disorders of iron metabolism" MONDO_0014225 "Disgenet " 4886 HFE "Liver cell carcinoma" MONDO_0007256 "Disgenet " 4886 HFE "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 4886 HFE "Porphyria cutanea tarda" MONDO_0008296 "Disgenet " 4886 HFE "Hereditary hemochromatosis" MONDO_0006507 "Disgenet " 4886 HFE "Alzheimer Disease" MONDO_0012630 "Disgenet " 4886 HFE "Diseases, Liver" MONDO_0005154 "Disgenet " 4886 HFE "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 4886 HFE "hemochromatosis type 1" MONDO:0021001 "ClinGen " 4886 HFE "Cystic Fibrosis" MONDO_0009061 "Disgenet " 4886 HFE Cardiomyopathy MONDO_0004994 "Disgenet " 4886 HFE "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 4886 HFE ALL MONDO_0004967 "Disgenet " 4886 HFE "PORPHYRIA CUTANEA TARDA, TYPE I" MONDO_0008295 "Disgenet " 4886 HFE "Peripheral neuropathy" MONDO_0005244 "Disgenet " 4886 HFE "Multiple Myeloma" MONDO_0009693 "Disgenet " 4886 HFE "Abuse, Alcohol" MONDO_0002046 "Disgenet " 4886 HFE "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 4886 HFE "Cancer, Breast" MONDO_0007254 "Disgenet " 4886 HFE "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 4887 HJV Hemochromatosis MONDO_0001436 "Disgenet " 4887 HJV JH MONDO_0019257 "Disgenet " 4887 HJV HFE MONDO_0006507 "Disgenet " 4887 HJV HFE2A MONDO_0011216 "Disgenet " 4893 HGF Cardiomyopathy MONDO_0004994 "Disgenet " 4893 HGF "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 4893 HGF "Diseases, Vascular" MONDO_0005385 "Disgenet " 4893 HGF "ischemia limb" MONDO_0000491 "Disgenet " 4893 HGF "Angle Closure Glaucoma" MONDO_0001744 "Disgenet " 4893 HGF Keratoconus MONDO_0015486 "Disgenet " 4893 HGF "Parkinson Disease" MONDO_0014796 "Disgenet " 4893 HGF "Damage, Reperfusion" MONDO_0005203 "Disgenet " 4893 HGF Nearsightedness MONDO_0001384 "Disgenet " 4893 HGF "Disease, Graft-Versus-Host" MONDO_0013730 "Disgenet " 4893 HGF "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 4893 HGF "Liver Neoplasm" MONDO_0002691 "Disgenet " 4893 HGF "Liver Failure, Acute" MONDO_0019542 "Disgenet " 4893 HGF "Diabetic Neuropathies" MONDO_0006626 "Disgenet " 4893 HGF Hypoacusis MONDO_0005365 "Disgenet " 4893 HGF DFNB39 MONDO_0012003 "Disgenet " 4893 HGF "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 4893 HGF "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 4893 HGF "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 4893 HGF "Mesothelioma, malignant" MONDO_0006292 "Disgenet " 4893 HGF "Liver cell carcinoma" MONDO_0007256 "Disgenet " 4893 HGF "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 4893 HGF "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 4893 HGF "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 4893 HGF "High blood pressure" MONDO_0005044 "Disgenet " 4893 HGF "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 4893 HGF Astrocytoma MONDO_0019781 "Disgenet " 4893 HGF Neuroblastoma MONDO_0005072 "Disgenet " 4893 HGF "Chronic hepatitis, unspecified" MONDO_0002251 "Disgenet " 4893 HGF Vitiligo MONDO_0008661 "Disgenet " 4893 HGF "Cancer, Squamous Cell" MONDO_0002532 "Disgenet " 4893 HGF "Interstitial lung disease" MONDO_0015925 "Disgenet " 4901 HHEX "Breast Neoplasms" MONDO_0021100 "Disgenet " 4901 HHEX "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 4907 HIBADH "3-hydroxyisobutyric aciduria" MONDO:0009371 "ClinGen " 4908 HIBCH "Leigh syndrome" MONDO:0009723 "ClinGen " 4908 HIBCH "3-hydroxyisobutyryl-CoA hydrolase deficiency" MONDO:0009603 "ClinGen " 4908 HIBCH "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 4908 HIBCH "3-Hydroxyisobutyryl-CoA Hydrolase Deficiency" MONDO_0009603 "Disgenet " 4909 HIC1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 4909 HIC1 Medulloblastoma MONDO_0007959 "Disgenet " 491 ANGPTL3 "familial hypobetalipoproteinemia 2" MONDO:0011505 "ClinGen " 491 ANGPTL3 "HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2" MONDO_0011505 "Disgenet " 4910 HIF1A "Brain Hypoxia Ischemia" MONDO_0006685 "Disgenet " 4910 HIF1A "Congestive heart failure" MONDO_0005252 "Disgenet " 4910 HIF1A Anaplasia "Disgenet " 4910 HIF1A "Neoplasm, Thyroid" MONDO_0015074 "Disgenet " 4910 HIF1A "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 4910 HIF1A "Disease, Ollier" MONDO_0013808 "Disgenet " 4910 HIF1A Depression MONDO_0002050 "Disgenet " 4910 HIF1A "Disorder associated with diabetes mellitus" "Disgenet " 4910 HIF1A "Carcinoma, Intraductal, Noninfiltrating" MONDO_0005023 "Disgenet " 4910 HIF1A "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 4910 HIF1A "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 4910 HIF1A "Cord Injuries, Spinal" MONDO_0043797 "Disgenet " 4910 HIF1A "High blood pressure" MONDO_0005044 "Disgenet " 4910 HIF1A "Heart failure" MONDO_0005252 "Disgenet " 4910 HIF1A "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 4910 HIF1A Hemangioblastoma MONDO_0016748 "Disgenet " 4910 HIF1A "Diseases, Lung" MONDO_0005275 "Disgenet " 4910 HIF1A Carcinoma MONDO_0004993 "Disgenet " 4910 HIF1A Astrocytoma MONDO_0019781 "Disgenet " 4910 HIF1A "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 4910 HIF1A "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 4910 HIF1A "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 4910 HIF1A COPD MONDO_0005002 "Disgenet " 4910 HIF1A Glioblastoma MONDO_0018177 "Disgenet " 4910 HIF1A "Breast Neoplasms" MONDO_0021100 "Disgenet " 4910 HIF1A "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 4910 HIF1A "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 4910 HIF1A "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 4910 HIF1A "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 4912 HINT1 NMAN MONDO_0007646 "Disgenet " 4912 HINT1 "Inherited Peripheral Neuropathy" "Disgenet " 4912 HINT1 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 4912 HINT1 Schizophrenias MONDO_0005090 "Disgenet " 4912 HINT1 "Charcot-Marie-Tooth disease" MONDO:0015626 "ClinGen " 4912 HINT1 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 4916 HIRA "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 4916 HIRA "DiGeorge's syndrome" MONDO_0018923 "Disgenet " 492 ANK1 HS MONDO_0008447 "Disgenet " 492 ANK1 "Hereditary spherocytosis" MONDO_0019350 "Disgenet " 492 ANK1 "hereditary spherocytosis" MONDO:0019350 "ClinGen " 492 ANK1 "hereditary spherocytosis" MONDO:0019350 "ClinGen " 492 ANK1 "Anemia, Hemolytic" MONDO_0003664 "Disgenet " 492 ANK1 Anemia MONDO_0002280 "Disgenet " 4921 HIVEP2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 4921 HIVEP2 MRD43 MONDO_0014858 "Disgenet " 4922 HK1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 4922 HK1 Schizophrenias MONDO_0005090 "Disgenet " 4922 HK1 HMSN MONDO_0012250 "Disgenet " 4922 HK1 "Anemia, Hemolytic, Congenital Nonspherocytic" MONDO_0006506 "Disgenet " 4922 HK1 Obesity MONDO_0019182 "Disgenet " 4922 HK1 Anemia MONDO_0002280 "Disgenet " 4922 HK1 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 4922 HK1 CMT4G MONDO_0011534 "Disgenet " 4922 HK1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 4923 HK2 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 4923 HK2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 4923 HK2 Obesity MONDO_0019182 "Disgenet " 4925 HK3 CRC MONDO_0005335 "Disgenet " 4927 SLC39A7 agammaglobulinemia MONDO:0015977 "ClinGen " 4927 SLC39A7 AGM9 MONDO_0030519 "Disgenet " 493 ANK2 LQT4 MONDO_0010958 "Disgenet " 493 ANK2 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 493 ANK2 "Childhood autism" MONDO_0005260 "Disgenet " 493 ANK2 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 493 ANK2 "Romano Ward Syndrome" MONDO_0019171 "Disgenet " 493 ANK2 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 493 ANK2 "Brugada syndrome" MONDO:0015263 "ClinGen " 493 ANK2 "catecholaminergic polymorphic ventricular tachycardia" MONDO:0017990 "ClinGen " 493 ANK2 "long QT syndrome" MONDO:0002442 "ClinGen " 493 ANK2 "CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED" MONDO_0010958 "Disgenet " 493 ANK2 "Brugada Syndrome" MONDO_0015263 "Disgenet " 493 ANK2 "Polymorphic catecholergic ventricular tachycardia" MONDO_0017990 "Disgenet " 493 ANK2 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 493 ANK2 "Ventricular tachycardia" MONDO_0013529 "Disgenet " 493 ANK2 Cardiomyopathy MONDO_0004994 "Disgenet " 493 ANK2 Arrhythmia MONDO_0007263 "Disgenet " 493 ANK2 "Long QT Syndrome" MONDO_0002442 "Disgenet " 4931 HLA-A Schizophrenias MONDO_0005090 "Disgenet " 4931 HLA-A "Multiple Myeloma" MONDO_0009693 "Disgenet " 4931 HLA-A "Glioma, malignant" MONDO_0100342 "Disgenet " 4931 HLA-A Gliomas MONDO_0021042 "Disgenet " 4931 HLA-A "BIRDSHOT CHORIORETINOPATHY" MONDO_0011599 "Disgenet " 4931 HLA-A "Childhood autism" MONDO_0005260 "Disgenet " 4931 HLA-A "Arteritis, Takayasu" MONDO_0017991 "Disgenet " 4931 HLA-A "Buergers Disease" MONDO_0008889 "Disgenet " 4932 HLA-B "Stevens-Johnson Syndrome" MONDO_0018229 "Disgenet " 4932 HLA-B "GRAVES DISEASE" MONDO_0005364 "Disgenet " 4932 HLA-B "Toxic Epidermal Necrolysis" MONDO_0018890 "Disgenet " 4932 HLA-B "Arteritis, Takayasu" MONDO_0017991 "Disgenet " 4932 HLA-B "Ankylosing spondylitis" MONDO_0005306 "Disgenet " 4932 HLA-B "HIV infection" MONDO_0005109 "Disgenet " 4932 HLA-B "Cytomegalovirus Retinitis" MONDO_0000878 "Disgenet " 4932 HLA-B "Disease, Schaumann" MONDO_0008399 "Disgenet " 4932 HLA-B "Reiter's syndrome" MONDO_0017376 "Disgenet " 4932 HLA-B "Malignant neoplasm of cervix uteri" MONDO_0002974 "Disgenet " 4932 HLA-B "Arteritides, Giant Cell" MONDO_0008538 "Disgenet " 4932 HLA-B "Cervical Neoplasm" MONDO_0021230 "Disgenet " 4932 HLA-B "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 4932 HLA-B "Behcet Syndrome" MONDO_0007191 "Disgenet " 4932 HLA-B Alopecias MONDO_0004907 "Disgenet " 4932 HLA-B Schizophrenias MONDO_0005090 "Disgenet " 4932 HLA-B Asthma MONDO_0004979 "Disgenet " 4932 HLA-B Spondyloarthropathy MONDO_0005095 "Disgenet " 4932 HLA-B Uveitides MONDO_0020283 "Disgenet " 4933 HLA-C "HIV infection" MONDO_0005109 "Disgenet " 4933 HLA-C "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 4933 HLA-C Schizophrenias MONDO_0005090 "Disgenet " 4938 HLA-DPA1 "Hepatitis B, Chronic" MONDO_0005366 "Disgenet " 4938 HLA-DPA1 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 4938 HLA-DPA1 "Hepatitis B" MONDO_0005344 "Disgenet " 494 ANK3 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 494 ANK3 "Childhood autism" MONDO_0005260 "Disgenet " 494 ANK3 "Unspecified nonorganic psychosis" "Disgenet " 494 ANK3 Psychosis MONDO_0005485 "Disgenet " 494 ANK3 "Affective Disorders" MONDO_0005371 "Disgenet " 494 ANK3 Schizophrenias MONDO_0005090 "Disgenet " 494 ANK3 "intellectual disability" MONDO:0001071 "ClinGen " 494 ANK3 "Status Epilepticus" MONDO_0002125 "Disgenet " 494 ANK3 "Bipolar Disorders" MONDO_0004985 "Disgenet " 4940 HLA-DPB1 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 4940 HLA-DPB1 "chronic berylliosis (diagnosis)" MONDO_0015274 "Disgenet " 4940 HLA-DPB1 "Myasthenia Gravis" MONDO_0009688 "Disgenet " 4940 HLA-DPB1 Endometrioses MONDO_0005133 "Disgenet " 4940 HLA-DPB1 "Disease, Schaumann" MONDO_0008399 "Disgenet " 4940 HLA-DPB1 Beryllioses MONDO_0015274 "Disgenet " 4940 HLA-DPB1 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 4940 HLA-DPB1 "Hepatitis B, Chronic" MONDO_0005366 "Disgenet " 4940 HLA-DPB1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 4940 HLA-DPB1 "Hepatitis B" MONDO_0005344 "Disgenet " 4940 HLA-DPB1 "Disease, Graft-Versus-Host" MONDO_0013730 "Disgenet " 4940 HLA-DPB1 Asthma MONDO_0004979 "Disgenet " 4940 HLA-DPB1 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 4940 HLA-DPB1 "Celiac Disease" MONDO_0005130 "Disgenet " 4940 HLA-DPB1 COPD MONDO_0005002 "Disgenet " 4940 HLA-DPB1 Narcolepsy MONDO_0019371 "Disgenet " 4940 HLA-DPB1 "Autoimmune Hepatitides" MONDO_0016264 "Disgenet " 4940 HLA-DPB1 "Granulomatosis, Wegener" MONDO_0012105 "Disgenet " 4940 HLA-DPB1 "Malignant neoplasm of cervix uteri" MONDO_0002974 "Disgenet " 4942 HLA-DQA1 "Ankylosing spondylitis" MONDO_0005306 "Disgenet " 4942 HLA-DQA1 Asthma MONDO_0004979 "Disgenet " 4942 HLA-DQA1 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 4942 HLA-DQA1 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 4942 HLA-DQA1 "Autoimmune Thyroiditides" MONDO_0007699 "Disgenet " 4942 HLA-DQA1 "Sjogren's Syndrome" MONDO_0010030 "Disgenet " 4942 HLA-DQA1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 4942 HLA-DQA1 Arthritides MONDO_0005578 "Disgenet " 4942 HLA-DQA1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 4942 HLA-DQA1 "Glomerulonephritides, Membranous" MONDO_0005376 "Disgenet " 4942 HLA-DQA1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 4942 HLA-DQA1 "Hemophilia A" MONDO_0010602 "Disgenet " 4942 HLA-DQA1 "BRAIN INFARCT" MONDO_0005394 "Disgenet " 4942 HLA-DQA1 "Aortic Aneurysm, Abdominal" MONDO_0005350 "Disgenet " 4942 HLA-DQA1 "primary biliary cirrhosis" MONDO_0005388 "Disgenet " 4942 HLA-DQA1 Psoriases MONDO_0005083 "Disgenet " 4942 HLA-DQA1 Pemphigus MONDO_0006594 "Disgenet " 4942 HLA-DQA1 "GRAVES DISEASE" MONDO_0005364 "Disgenet " 4942 HLA-DQA1 "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 4942 HLA-DQA1 "Hepatitis B" MONDO_0005344 "Disgenet " 4942 HLA-DQA1 "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 4942 HLA-DQA1 "Cancer, Breast" MONDO_0007254 "Disgenet " 4942 HLA-DQA1 "Myasthenia Gravis" MONDO_0009688 "Disgenet " 4942 HLA-DQA1 Melanoma MONDO_0005105 "Disgenet " 4942 HLA-DQA1 "Autoimmune Polyendocrinopathy" MONDO_0017278 "Disgenet " 4942 HLA-DQA1 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 4942 HLA-DQA1 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 4942 HLA-DQA1 "HIV infection" MONDO_0005109 "Disgenet " 4942 HLA-DQA1 "Acute Articular Rheumatism" MONDO_0017767 "Disgenet " 4942 HLA-DQA1 "Syndrome, Uveomeningoencephalitic" MONDO_0018092 "Disgenet " 4942 HLA-DQA1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 4942 HLA-DQA1 "Disease, Rheumatic Heart" MONDO_0006955 "Disgenet " 4942 HLA-DQA1 Myositides MONDO_0021167 "Disgenet " 4942 HLA-DQA1 Narcolepsy MONDO_0019371 "Disgenet " 4942 HLA-DQA1 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 4942 HLA-DQA1 "Celiac Disease" MONDO_0005130 "Disgenet " 4943 HLA-DQA2 Asthma MONDO_0004979 "Disgenet " 4944 HLA-DQB1 "Ankylosing spondylitis" MONDO_0005306 "Disgenet " 4944 HLA-DQB1 "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 4944 HLA-DQB1 "Narcolepsy type 1" MONDO_0016158 "Disgenet " 4944 HLA-DQB1 "Disease, Schaumann" MONDO_0008399 "Disgenet " 4944 HLA-DQB1 Narcolepsy MONDO_0019371 "Disgenet " 4944 HLA-DQB1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 4944 HLA-DQB1 "Degenerative myopia" MONDO_0001383 "Disgenet " 4944 HLA-DQB1 "Addisons Disease" MONDO_0100480 "Disgenet " 4944 HLA-DQB1 Agranulocytoses MONDO_0015134 "Disgenet " 4944 HLA-DQB1 Vitiligo MONDO_0008661 "Disgenet " 4944 HLA-DQB1 "Autoimmune Hepatitides" MONDO_0016264 "Disgenet " 4944 HLA-DQB1 "Myasthenia Gravis" MONDO_0009688 "Disgenet " 4944 HLA-DQB1 beta-Thalassemia MONDO_0013517 "Disgenet " 4944 HLA-DQB1 "Hepatitis C" MONDO_0005231 "Disgenet " 4944 HLA-DQB1 "Malignant neoplasm of cervix uteri" MONDO_0002974 "Disgenet " 4944 HLA-DQB1 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 4944 HLA-DQB1 "Tuberculosis, Pulmonary" MONDO_0957462 "Disgenet " 4944 HLA-DQB1 Schizophrenias MONDO_0005090 "Disgenet " 4944 HLA-DQB1 Silicoses MONDO_0005960 "Disgenet " 4944 HLA-DQB1 "Syndrome, Uveomeningoencephalitic" MONDO_0018092 "Disgenet " 4944 HLA-DQB1 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 4944 HLA-DQB1 "Bergers Disease" MONDO_0005342 "Disgenet " 4944 HLA-DQB1 ALL MONDO_0004967 "Disgenet " 4944 HLA-DQB1 "Pemphigus vulgaris" MONDO_0006594 "Disgenet " 4944 HLA-DQB1 "GRAVES DISEASE" MONDO_0005364 "Disgenet " 4944 HLA-DQB1 "Cicatricial pemphigoid" MONDO_0018746 "Disgenet " 4944 HLA-DQB1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 4944 HLA-DQB1 "Hepatitis B" MONDO_0005344 "Disgenet " 4944 HLA-DQB1 Hypothyroidism MONDO_0005420 "Disgenet " 4944 HLA-DQB1 "Achalasias, Esophageal" MONDO_0008698 "Disgenet " 4944 HLA-DQB1 "IgA Deficiency" MONDO_0001341 "Disgenet " 4944 HLA-DQB1 "Common Variable Immunodeficiency" MONDO_0015517 "Disgenet " 4944 HLA-DQB1 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 4944 HLA-DQB1 Arthritides MONDO_0005578 "Disgenet " 4944 HLA-DQB1 Psoriases MONDO_0005083 "Disgenet " 4944 HLA-DQB1 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 4944 HLA-DQB1 "Celiac Disease" MONDO_0005130 "Disgenet " 4944 HLA-DQB1 Asthma MONDO_0004979 "Disgenet " 4944 HLA-DQB1 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 4944 HLA-DQB1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 4944 HLA-DQB1 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 4947 HLA-DRA Asthma MONDO_0004979 "Disgenet " 4947 HLA-DRA "Parkinson Disease" MONDO_0014796 "Disgenet " 4947 HLA-DRA "Multiple Sclerosis" MONDO_0005301 "Disgenet " 4947 HLA-DRA "Autoimmune Thyroiditides" MONDO_0007699 "Disgenet " 4948 HLA-DRB1 Endometrioses MONDO_0005133 "Disgenet " 4948 HLA-DRB1 "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 4948 HLA-DRB1 "Ankylosing spondylitis" MONDO_0005306 "Disgenet " 4948 HLA-DRB1 "Glomerulonephritides, Membranous" MONDO_0005376 "Disgenet " 4948 HLA-DRB1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 4948 HLA-DRB1 "Kala Azar" MONDO_0005445 "Disgenet " 4948 HLA-DRB1 "Brill Symmers Disease" MONDO_0018906 "Disgenet " 4948 HLA-DRB1 Glaucomas MONDO_0005041 "Disgenet " 4948 HLA-DRB1 Chorea MONDO_0001595 "Disgenet " 4948 HLA-DRB1 "Aortic Aneurysm, Abdominal" MONDO_0005350 "Disgenet " 4948 HLA-DRB1 "Ulcerative colitis" MONDO_0005101 "Disgenet " 4948 HLA-DRB1 Narcolepsy MONDO_0019371 "Disgenet " 4948 HLA-DRB1 "Autoimmune Thyroiditides" MONDO_0007699 "Disgenet " 4948 HLA-DRB1 Uveitides MONDO_0020283 "Disgenet " 4948 HLA-DRB1 "Sjogren's Syndrome" MONDO_0010030 "Disgenet " 4948 HLA-DRB1 "Glomerulonephritides, Lupus" MONDO_0005556 "Disgenet " 4948 HLA-DRB1 "Typhoid fever" MONDO_0005619 "Disgenet " 4948 HLA-DRB1 "Childhood autism" MONDO_0005260 "Disgenet " 4948 HLA-DRB1 "GRAVES DISEASE" MONDO_0005364 "Disgenet " 4948 HLA-DRB1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 4948 HLA-DRB1 "human papilloma virus infection (diagnosis)" MONDO_0005161 "Disgenet " 4948 HLA-DRB1 "Disease, Rheumatic Heart" MONDO_0006955 "Disgenet " 4948 HLA-DRB1 "HIV infection" MONDO_0005109 "Disgenet " 4948 HLA-DRB1 "Autoimmune Syndrome Type II, Polyglandular" MONDO_0010012 "Disgenet " 4948 HLA-DRB1 "Pauciarticular juvenile arthritis" MONDO_0011429 "Disgenet " 4948 HLA-DRB1 "Mixed Connective Tissue Disease" MONDO_0005854 "Disgenet " 4948 HLA-DRB1 "Sympathetic ophthalmia" MONDO_0019198 "Disgenet " 4948 HLA-DRB1 "Acute Articular Rheumatism" MONDO_0017767 "Disgenet " 4948 HLA-DRB1 "Hepatitis C" MONDO_0005231 "Disgenet " 4948 HLA-DRB1 "Arteritis, Takayasu" MONDO_0017991 "Disgenet " 4948 HLA-DRB1 "Epidemic Hemorrhagic Fevers" MONDO_0005784 "Disgenet " 4948 HLA-DRB1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 4948 HLA-DRB1 "Disease, Meniere" MONDO_0007972 "Disgenet " 4948 HLA-DRB1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 4948 HLA-DRB1 "Tuberculosis, Pulmonary" MONDO_0957462 "Disgenet " 4948 HLA-DRB1 "Myasthenia Gravis" MONDO_0009688 "Disgenet " 4948 HLA-DRB1 Myositides MONDO_0021167 "Disgenet " 4948 HLA-DRB1 "Cancer, Breast" MONDO_0007254 "Disgenet " 4948 HLA-DRB1 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 4948 HLA-DRB1 Pemphigus MONDO_0006594 "Disgenet " 4948 HLA-DRB1 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 4948 HLA-DRB1 "Neuritides, Optic" MONDO_0005885 "Disgenet " 4948 HLA-DRB1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 4948 HLA-DRB1 "Behcet Syndrome" MONDO_0007191 "Disgenet " 4948 HLA-DRB1 "Celiac Disease" MONDO_0005130 "Disgenet " 4948 HLA-DRB1 "Addisons Disease" MONDO_0100480 "Disgenet " 4948 HLA-DRB1 "Neuromyelitis Optica" MONDO_0019100 "Disgenet " 4948 HLA-DRB1 Leprosy MONDO_0005124 "Disgenet " 4948 HLA-DRB1 Schizophrenias MONDO_0005090 "Disgenet " 4948 HLA-DRB1 "Autoimmune Hepatitides" MONDO_0016264 "Disgenet " 4948 HLA-DRB1 "Parkinson Disease" MONDO_0014796 "Disgenet " 4948 HLA-DRB1 "Syndrome, Uveomeningoencephalitic" MONDO_0018092 "Disgenet " 4948 HLA-DRB1 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 4948 HLA-DRB1 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 4948 HLA-DRB1 "Disease, Schaumann" MONDO_0008399 "Disgenet " 4948 HLA-DRB1 "Arteritides, Giant Cell" MONDO_0008538 "Disgenet " 4948 HLA-DRB1 Asthma MONDO_0004979 "Disgenet " 4948 HLA-DRB1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 4948 HLA-DRB1 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 496 RIPK4 PPS MONDO_0017435 "Disgenet " 496 RIPK4 CHANDS MONDO_0008959 "Disgenet " 496 RIPK4 "POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE" MONDO_0009901 "Disgenet " 4962 HLA-E "Bipolar Disorders" MONDO_0004985 "Disgenet " 4962 HLA-E Schizophrenias MONDO_0005090 "Disgenet " 4964 HLA-G "Bipolar Disorders" MONDO_0004985 "Disgenet " 4964 HLA-G "Hepatitis C" MONDO_0005231 "Disgenet " 4964 HLA-G Asthma MONDO_0004979 "Disgenet " 4976 HLCS "holocarboxylase synthetase deficiency" MONDO:0009666 "ClinGen " 4976 HLCS "HOLOCARBOXYLASE SYNTHETASE DEFICIENCY" MONDO_0009666 "Disgenet " 4977 HLF ALL MONDO_0004967 "Disgenet " 4982 HMBS "Porphyria acute" MONDO_0008294 "Disgenet " 4982 HMBS "acute intermittent porphyria" MONDO:0008294 "ClinGen " 4983 HMGB1 Alcoholism MONDO_0002046 "Disgenet " 4983 HMGB1 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 4983 HMGB1 "High blood pressure" MONDO_0005044 "Disgenet " 4983 HMGB1 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 4983 HMGB1 Sepsis MONDO_0005229 "Disgenet " 4983 HMGB1 "Systemic Vasculitides" "Disgenet " 4983 HMGB1 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 4983 HMGB1 "Failure, Multiple Organ" MONDO_0043726 "Disgenet " 4983 HMGB1 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 4983 HMGB1 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 5000 HMGB2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 5000 HMGB2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 5001 HMG20A "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 5004 HMGB3 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 5004 HMGB3 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 5005 HMGCL "3-hydroxy-3-methylglutaric aciduria" MONDO:0009520 "ClinGen " 5005 HMGCL "3-hydroxy-3-methylglutaryl-CoA lyase deficiency" MONDO_0009520 "Disgenet " 5006 HMGCR Myopathy MONDO_0003939 "Disgenet " 5006 HMGCR Hypercholesteremias "Disgenet " 5006 HMGCR "Deficiency of mevalonate kinase" MONDO_0017708 "Disgenet " 5006 HMGCR "limb girdle muscular dystrophy" MONDO_0016971 "Disgenet " 5006 HMGCR "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 5006 HMGCR "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 5006 HMGCR Asthma MONDO_0004979 "Disgenet " 5006 HMGCR Cholecystolithiasis MONDO_0006698 "Disgenet " 5006 HMGCR Cholelithiases MONDO_0012672 "Disgenet " 5006 HMGCR "Parkinson Disease" MONDO_0014796 "Disgenet " 5006 HMGCR "Coronary Disease" MONDO_0005010 "Disgenet " 5006 HMGCR "Essential Hypercholesterolemia" MONDO_0005439 "Disgenet " 5006 HMGCR "Alzheimer Disease" MONDO_0012630 "Disgenet " 5006 HMGCR "Attention-Deficit Disorder NOS" MONDO_0005302 "Disgenet " 5006 HMGCR "MYOPATHY, LIMB-GIRDLE, ADULT-ONSET" MONDO_0957270 "Disgenet " 5006 HMGCR "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 5006 HMGCR "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 5006 HMGCR "Liver cell carcinoma" MONDO_0007256 "Disgenet " 5006 HMGCR "Diabetes Mellitus" MONDO_0005015 "Disgenet " 5006 HMGCR "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 5006 HMGCR "autosomal recessive limb-girdle muscular dystrophy" MONDO:0015152 "ClinGen " 5010 HMGA1 "Syndrome X, Reaven" MONDO_0011565 "Disgenet " 5010 HMGA1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 5010 HMGA1 "Neoplasm, Uterine" MONDO_0002715 "Disgenet " 5012 HMMR "Liver cell carcinoma" MONDO_0007256 "Disgenet " 5012 HMMR "Breast Neoplasms" MONDO_0021100 "Disgenet " 5012 HMMR "Cancer, Breast" MONDO_0007254 "Disgenet " 5012 HMMR "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 5013 HMOX1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 5013 HMOX1 Obesity MONDO_0019182 "Disgenet " 5013 HMOX1 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 5013 HMOX1 "Degenerative disease of nervous system, unspecified" MONDO_0005559 "Disgenet " 5013 HMOX1 "Congestive heart failure" MONDO_0005252 "Disgenet " 5013 HMOX1 "Gastric Stases" MONDO_0006769 "Disgenet " 5013 HMOX1 Pneumonia MONDO_0005249 "Disgenet " 5013 HMOX1 "Heart failure" MONDO_0005252 "Disgenet " 5013 HMOX1 "High blood pressure" MONDO_0005044 "Disgenet " 5013 HMOX1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 5013 HMOX1 "Respiratory Distress Syndrome, Adult" MONDO_0100130 "Disgenet " 5013 HMOX1 "Cystic Fibrosis" MONDO_0009061 "Disgenet " 5013 HMOX1 "Diseases, Liver" MONDO_0005154 "Disgenet " 5013 HMOX1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 5013 HMOX1 "Status Epilepticus" MONDO_0002125 "Disgenet " 5013 HMOX1 "Aortic Aneurysm, Abdominal" MONDO_0005350 "Disgenet " 5013 HMOX1 "heme oxygenase 1 deficiency" MONDO:0013536 "ClinGen " 5013 HMOX1 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 5013 HMOX1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 5013 HMOX1 "Coronary Disease" MONDO_0005010 "Disgenet " 5013 HMOX1 "Liver Neoplasm" MONDO_0002691 "Disgenet " 5013 HMOX1 "lung injury" "Disgenet " 5013 HMOX1 "Parkinson Disease" MONDO_0014796 "Disgenet " 5013 HMOX1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 5013 HMOX1 Colitides MONDO_0005534 "Disgenet " 5013 HMOX1 "Acute kidney injury" MONDO_0002492 "Disgenet " 5013 HMOX1 "Kala Azar" MONDO_0005445 "Disgenet " 5013 HMOX1 Retinopathy MONDO_0005283 "Disgenet " 5013 HMOX1 Adenocarcinoma MONDO_0004970 "Disgenet " 5013 HMOX1 "Disorders of iron metabolism" MONDO_0014225 "Disgenet " 5013 HMOX1 Schizophrenias MONDO_0005090 "Disgenet " 5013 HMOX1 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 5013 HMOX1 Hyperinsulinism MONDO_0002177 "Disgenet " 5013 HMOX1 "Hemophilia A" MONDO_0010602 "Disgenet " 5013 HMOX1 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 5013 HMOX1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 5013 HMOX1 COPD MONDO_0005002 "Disgenet " 5013 HMOX1 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 5013 HMOX1 "HEME OXYGENASE 1 DEFICIENCY" MONDO_0013536 "Disgenet " 5013 HMOX1 Asthma MONDO_0004979 "Disgenet " 5013 HMOX1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 5021 FOXA1 "Cancer, Breast" MONDO_0007254 "Disgenet " 5021 FOXA1 "CARCINOMA OF LUNG" MONDO_0005138 "Disgenet " 5021 FOXA1 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 5021 FOXA1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 5021 FOXA1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 5021 FOXA1 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 5021 FOXA1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 5021 FOXA1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 5021 FOXA1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 5021 FOXA1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 5021 FOXA1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 5022 FOXA2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 5022 FOXA2 "combined pituitary hormone deficiencies, genetic form" MONDO:0013099 "ClinGen " 5024 HNF4A FRTS4 MONDO_0014458 "Disgenet " 5024 HNF4A "monogenic diabetes" MONDO:0015967 "ClinGen " 5024 HNF4A MODY3 MONDO_0010894 "Disgenet " 5024 HNF4A MODY2 MONDO_0007453 "Disgenet " 5024 HNF4A MODY1 MONDO_0007452 "Disgenet " 5024 HNF4A "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 5024 HNF4A "Maturity onset diabetes mellitus in young" MONDO_0018911 "Disgenet " 5024 HNF4A Hyperinsulinism MONDO_0002177 "Disgenet " 5024 HNF4A PHHI MONDO_0019010 "Disgenet " 5024 HNF4A "Ulcerative colitis" MONDO_0005101 "Disgenet " 5024 HNF4A "Combined Hyperlipidemia, Familial" MONDO_0007759 "Disgenet " 5024 HNF4A Hypoglycemia MONDO_0004946 "Disgenet " 5024 HNF4A "Monogenic diabetes" MONDO_0015967 "Disgenet " 5028 HNMT "Parkinson Disease" MONDO_0014796 "Disgenet " 5028 HNMT Asthma MONDO_0004979 "Disgenet " 5028 HNMT "Benign essential tremor" MONDO_0003233 "Disgenet " 5028 HNMT MRT51 MONDO_0014759 "Disgenet " 5028 HNMT Alcoholism MONDO_0002046 "Disgenet " 5028 HNMT "Atopic Eczema" MONDO_0011292 "Disgenet " 5031 HNRNPA1 "AMYOTROPHIC LATERAL SCLEROSIS 20" MONDO_0014181 "Disgenet " 5031 HNRNPA1 IBMPFD3 MONDO_0014179 "Disgenet " 5031 HNRNPA1 MPD3 MONDO_0012410 "Disgenet " 5031 HNRNPA1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 5031 HNRNPA1 "distal muscular dystrophy" MONDO_0018949 "Disgenet " 5031 HNRNPA1 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 5037 HNRNPDL "muscular dystrophy, limb-girdle, autosomal dominant" MONDO:0015151 "ClinGen " 5037 HNRNPDL LGMD1G MONDO_0012193 "Disgenet " 5041 HNRNPH1 "NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS" MONDO_0859301 "Disgenet " 5041 HNRNPH1 MRXSB MONDO_0010512 "Disgenet " 5042 HNRNPH2 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 5042 HNRNPH2 "X-linked complex neurodevelopmental disorder" MONDO:0100148 "ClinGen " 5042 HNRNPH2 MRXSB MONDO_0010512 "Disgenet " 5042 HNRNPH2 "Anderson Fabry Disease" MONDO_0010526 "Disgenet " 5045 HNRNPL "Liver cell carcinoma" MONDO_0007256 "Disgenet " 5047 HNRNPR "syndromic intellectual disability" MONDO:0000508 "ClinGen " 5047 HNRNPR "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES" MONDO_0859297 "Disgenet " 5048 HNRNPU "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 5048 HNRNPU "epileptic encephalopathy" "Disgenet " 5048 HNRNPU Epilepsies MONDO_0005027 "Disgenet " 5048 HNRNPU "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 5048 HNRNPU "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 5099 HOXA1 "syndromic intellectual disability" MONDO:0000508 "ClinGen " 5099 HOXA1 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 5099 HOXA1 "BOSLEY-SALIH-ALORAINY SYNDROME" MONDO_0019075 "Disgenet " 5099 HOXA1 "ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME" MONDO_0011099 "Disgenet " 5099 HOXA1 "Childhood autism" MONDO_0005260 "Disgenet " 51 ABCC1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 51 ABCC1 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 51 ABCC1 "DEAFNESS, AUTOSOMAL DOMINANT 77" MONDO_0030058 "Disgenet " 51 ABCC1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 51 ABCC1 COPD MONDO_0005002 "Disgenet " 5100 HOXA10 Adenocarcinoma MONDO_0004970 "Disgenet " 5100 HOXA10 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 5100 HOXA10 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 5102 HOXA13 "Hand foot genital syndrome" MONDO_0007698 "Disgenet " 5102 HOXA13 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 5102 HOXA13 "Uterus bilocularis" MONDO_0007698 "Disgenet " 5102 HOXA13 "PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS" MONDO_0008301 "Disgenet " 5103 HOXA2 Microtia MONDO_0010920 "Disgenet " 5109 HOXA9 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 5109 HOXA9 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 5109 HOXA9 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 5116 HOXB5 Obesity MONDO_0019182 "Disgenet " 5125 HOXC13 "Ectodermal Dysplasia, Pure Hair-Nail Type" MONDO_0011177 "Disgenet " 5125 HOXC13 "ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE" MONDO_0013976 "Disgenet " 5133 HOXD10 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 5133 HOXD10 "Vertical talus" MONDO_0008652 "Disgenet " 5137 HOXD3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 5140 HOXD9 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 5140 HOXD9 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 5141 HP "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 5141 HP "Infection, Plasmodium" MONDO_0005136 "Disgenet " 5141 HP Schizophrenias MONDO_0005090 "Disgenet " 5141 HP "Depressive neurosis" MONDO_0002050 "Disgenet " 5141 HP Hyperglycemia MONDO_0002909 "Disgenet " 5141 HP Depression MONDO_0002050 "Disgenet " 5141 HP "High blood pressure" MONDO_0005044 "Disgenet " 5141 HP "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 5141 HP "Cardiovascular Disease" MONDO_0004995 "Disgenet " 5141 HP Anemia MONDO_0002280 "Disgenet " 5141 HP "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 5141 HP "Anemia, Sickle Cell" MONDO_0011382 "Disgenet " 5141 HP "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 5141 HP "Depressions, Unipolar" MONDO_0002050 "Disgenet " 5141 HP "Malaria, Falciparum" MONDO_0005920 "Disgenet " 5141 HP "HYPERTENSION, PREGNANCY-INDUCED" MONDO_0024664 "Disgenet " 5141 HP "Angiopathies, Diabetic" MONDO_0000960 "Disgenet " 5141 HP Hemochromatosis MONDO_0001436 "Disgenet " 5141 HP "Affective Disorders" MONDO_0005371 "Disgenet " 5141 HP "HIV infection" MONDO_0005109 "Disgenet " 5141 HP "Hepatitis B" MONDO_0005344 "Disgenet " 5141 HP "Hepatitis B, Chronic" MONDO_0005366 "Disgenet " 5141 HP "Chronic viral hepatitis C" MONDO_0005354 "Disgenet " 5141 HP "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 5141 HP "Ulcerative colitis" MONDO_0005101 "Disgenet " 5141 HP Leukemias MONDO_0005059 "Disgenet " 5141 HP Dyslipidaemia "Disgenet " 5141 HP Atherosclerosis MONDO_0005311 "Disgenet " 5141 HP "Anemia, Hemolytic" MONDO_0003664 "Disgenet " 5141 HP Arthritides MONDO_0005578 "Disgenet " 5141 HP "Acute kidney injury" MONDO_0002492 "Disgenet " 5141 HP "Disorder associated with diabetes mellitus" "Disgenet " 5141 HP "Breast Neoplasms" MONDO_0021100 "Disgenet " 5144 HPCA DYT2 MONDO_0009141 "Disgenet " 5144 HPCA "Dystonia Musculorum Deformans" MONDO_0000476 "Disgenet " 5147 HPD hawkinsinuria MONDO:0007700 "ClinGen " 5147 HPD "tyrosinemia type III" MONDO:0010162 "ClinGen " 5147 HPD Hypertyrosinemia MONDO_0004741 "Disgenet " 5147 HPD HAWKINSINURIA MONDO_0007700 "Disgenet " 5147 HPD tyrosinemia MONDO_0004741 "Disgenet " 5147 HPD "TYROSINEMIA, TYPE III" MONDO_0004741 "Disgenet " 5154 HPGD "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 5154 HPGD "Hereditary clubbing" MONDO_0016620 "Disgenet " 5154 HPGD "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 5154 HPGD "Hypertrophic Osteoarthropathy, Primary" MONDO_0016620 "Disgenet " 5155 HPN "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 5157 HPRT1 Hyperuricemia "Disgenet " 5157 HPRT1 "Lesch Nyhan Syndrome" MONDO_0016088 "Disgenet " 5157 HPRT1 "HPRT1 Deficiency, Partial" MONDO_0010299 "Disgenet " 5157 HPRT1 "Lesch-Nyhan syndrome" MONDO:0010298 "ClinGen " 5163 HPS1 "Hermansky-Pudlak syndrome 1" MONDO:0008748 "ClinGen " 5163 HPS1 "Albinism, Oculocutaneous" MONDO_0018910 "Disgenet " 5163 HPS1 "Hermanski Pudlak Syndrome" MONDO_0019312 "Disgenet " 5163 HPS1 "Delta storage pool disease" MONDO_0019312 "Disgenet " 5164 HPSE Melanoma MONDO_0005105 "Disgenet " 5164 HPSE "Breast Neoplasms" MONDO_0021100 "Disgenet " 5164 HPSE "Liver cell carcinoma" MONDO_0007256 "Disgenet " 5164 HPSE "Depressive neurosis" MONDO_0002050 "Disgenet " 5171 HPX "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 5171 HPX "Acute kidney injury" MONDO_0002492 "Disgenet " 5172 HR "ALOPECIA UNIVERSALIS CONGENITA" MONDO_0000005 "Disgenet " 5172 HR "ATRICHIA WITH PAPULAR LESIONS" MONDO_0008847 "Disgenet " 5172 HR Alopecias MONDO_0004907 "Disgenet " 5172 HR "Alopecia universalis" MONDO_0008757 "Disgenet " 5172 HR "Marie Unna congenital hypotrichosis" MONDO_0018631 "Disgenet " 5182 HRH1 Atherosclerosis MONDO_0005311 "Disgenet " 5182 HRH1 Schizophrenias MONDO_0005090 "Disgenet " 5184 HRH3 Amnesia MONDO_0001152 "Disgenet " 5192 HES1 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 5192 HES1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 5192 HES1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 5192 HES1 Glioblastoma MONDO_0018177 "Disgenet " 5192 HES1 Meningiomas MONDO_0016642 "Disgenet " 5195 HS3ST2 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 5201 HS6ST1 "HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA" MONDO_0013946 "Disgenet " 5201 HS6ST1 "Hypogonadotropic hypogonadism" MONDO_0014102 "Disgenet " 5201 HS6ST1 "Syndrome, Kallmann's" MONDO_0013961 "Disgenet " 5208 HSD11B1 Hyperglycemia MONDO_0002909 "Disgenet " 5208 HSD11B1 "Depressive neurosis" MONDO_0002050 "Disgenet " 5208 HSD11B1 Depression MONDO_0002050 "Disgenet " 5208 HSD11B1 Obesity MONDO_0019182 "Disgenet " 5208 HSD11B1 "High blood pressure" MONDO_0005044 "Disgenet " 5208 HSD11B1 "Cancer, Breast" MONDO_0007254 "Disgenet " 5208 HSD11B1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 5208 HSD11B1 "Cortisone reductase deficiency" MONDO_0000193 "Disgenet " 5209 HSD11B2 "High blood pressure" MONDO_0005044 "Disgenet " 5209 HSD11B2 Obesity MONDO_0019182 "Disgenet " 5209 HSD11B2 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 5209 HSD11B2 "apparent mineralocorticoid excess" MONDO:0009025 "ClinGen " 5209 HSD11B2 AME MONDO_0009025 "Disgenet " 5210 HSD17B1 Endometrioses MONDO_0005133 "Disgenet " 5210 HSD17B1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 5211 HSD17B2 Endometrioses MONDO_0005133 "Disgenet " 5211 HSD17B2 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 5212 HSD17B3 "17b-hydroxysteroid oxidoreductase deficiency" MONDO_0009916 "Disgenet " 5212 HSD17B3 "sex development disorder" MONDO_0002145 "Disgenet " 5212 HSD17B3 pseudohermaphroditism MONDO_0005518 "Disgenet " 5212 HSD17B3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 5213 HSD17B4 "Peroxisomal Disorder" MONDO_0019053 "Disgenet " 5213 HSD17B4 "Zellweger Syndrome" MONDO_0019609 "Disgenet " 5213 HSD17B4 "Perrault syndrome" MONDO_0017312 "Disgenet " 5213 HSD17B4 "PERRAULT SYNDROME 1" MONDO_0009300 "Disgenet " 5213 HSD17B4 "d-bifunctional protein deficiency" MONDO:0009855 "ClinGen " 5213 HSD17B4 "Perrault syndrome" MONDO:0017312 "ClinGen " 5224 HSF1 "Chorea, Huntington" MONDO_0011671 "Disgenet " 5227 HSF4 Cataracts MONDO_0005129 "Disgenet " 5227 HSF4 "Congenital cataract" MONDO_0008925 "Disgenet " 5227 HSF4 "Congenital lamellar cataract" MONDO_0007290 "Disgenet " 5228 DNAJB2 DSMA5 MONDO_0013947 "Disgenet " 5228 DNAJB2 "Charcot-Marie-Tooth disease axonal type 2T" MONDO:0014866 "ClinGen " 5232 HSPA1A "Depressions, Unipolar" MONDO_0002050 "Disgenet " 5232 HSPA1A "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 5232 HSPA1A "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 5232 HSPA1A "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 5232 HSPA1A "Major depressive disorder, single episode, unspecified degree" MONDO_0002050 "Disgenet " 5232 HSPA1A "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 5232 HSPA1A "Disease, Meniere" MONDO_0007972 "Disgenet " 5232 HSPA1A Atherosclerosis MONDO_0005311 "Disgenet " 5232 HSPA1A COPD MONDO_0005002 "Disgenet " 5232 HSPA1A "Acute kidney injury" MONDO_0002492 "Disgenet " 5232 HSPA1A Parkinsonism MONDO_0021095 "Disgenet " 5232 HSPA1A "Brain Injuries" MONDO_0043510 "Disgenet " 5232 HSPA1A "Cystic Fibrosis" MONDO_0009061 "Disgenet " 5232 HSPA1A "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 5232 HSPA1A "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 5232 HSPA1A "Paranoid Schizophrenia" MONDO_0001484 "Disgenet " 5232 HSPA1A "Dementia, Vascular" MONDO_0004648 "Disgenet " 5232 HSPA1A Schizophrenias MONDO_0005090 "Disgenet " 5232 HSPA1A "Alzheimer Disease" MONDO_0012630 "Disgenet " 5232 HSPA1A "Heat Stress Disorder" "Disgenet " 5232 HSPA1A "Damage, Reperfusion" MONDO_0005203 "Disgenet " 5232 HSPA1A Melanoma MONDO_0005105 "Disgenet " 5232 HSPA1A "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 5232 HSPA1A Vitiligo MONDO_0008661 "Disgenet " 5232 HSPA1A "Parkinson Disease" MONDO_0014796 "Disgenet " 5233 HSPA1B Schizophrenias MONDO_0005090 "Disgenet " 5233 HSPA1B "Breast Neoplasms" MONDO_0021100 "Disgenet " 5233 HSPA1B "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 5233 HSPA1B "Depressions, Unipolar" MONDO_0002050 "Disgenet " 5233 HSPA1B "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 5233 HSPA1B Obesity MONDO_0019182 "Disgenet " 5234 HSPA1L "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 5234 HSPA1L "Major depressive disorder, single episode, unspecified degree" MONDO_0002050 "Disgenet " 5234 HSPA1L "Depressions, Unipolar" MONDO_0002050 "Disgenet " 5234 HSPA1L COPD MONDO_0005002 "Disgenet " 5234 HSPA1L "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 5234 HSPA1L "Crohn Disease" MONDO_0005011 "Disgenet " 5234 HSPA1L Schizophrenias MONDO_0005090 "Disgenet " 5237 HSPA4 "Chagas Disease" MONDO_0001444 "Disgenet " 5237 HSPA4 "Bipolar Disorders" MONDO_0004985 "Disgenet " 5238 HSPA5 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 5238 HSPA5 HDL4 MONDO_0011781 "Disgenet " 5238 HSPA5 "Bipolar Disorders" MONDO_0004985 "Disgenet " 5238 HSPA5 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 5238 HSPA5 Obesity MONDO_0019182 "Disgenet " 5241 HSPA8 HDL4 MONDO_0011781 "Disgenet " 5241 HSPA8 "Parkinson Disease" MONDO_0014796 "Disgenet " 5244 HSPA9 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 5244 HSPA9 Schizophrenias MONDO_0005090 "Disgenet " 5244 HSPA9 "Autosomal recessive sideroblastic anemia (disorder)" MONDO_0016828 "Disgenet " 5244 HSPA9 "ANEMIA, SIDEROBLASTIC, 4" MONDO_0008422 "Disgenet " 5244 HSPA9 "EVEN-PLUS SYNDROME" MONDO_0014801 "Disgenet " 5244 HSPA9 "Parkinson Disease" MONDO_0014796 "Disgenet " 5246 HSPB1 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 5246 HSPB1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 5246 HSPB1 "Mouth Neoplasm" MONDO_0021245 "Disgenet " 5246 HSPB1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 5246 HSPB1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 5246 HSPB1 "Distal spinal muscular atrophy" MONDO_0001516 "Disgenet " 5246 HSPB1 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F" MONDO_0011687 "Disgenet " 5246 HSPB1 "NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB" MONDO_0012080 "Disgenet " 5246 HSPB1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 5246 HSPB1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 5246 HSPB1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 5246 HSPB1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 5246 HSPB1 HMNJ MONDO_0011585 "Disgenet " 5246 HSPB1 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 5246 HSPB1 "Multiple Myeloma" MONDO_0009693 "Disgenet " 5246 HSPB1 "Charcot-Marie-Tooth disease axonal type 2F" MONDO:0011687 "ClinGen " 5248 HSPB3 "NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC" MONDO_0013243 "Disgenet " 5248 HSPB3 "Distal spinal muscular atrophy" MONDO_0001516 "Disgenet " 5248 HSPB3 "Depressive neurosis" MONDO_0002050 "Disgenet " 5253 HSP90AA1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 5253 HSP90AA1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 5253 HSP90AA1 "Ki 1 Lymphoma" MONDO_0020325 "Disgenet " 5253 HSP90AA1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 5258 HSP90AB1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 5258 HSP90AB1 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 5261 HSPD1 Endotoxemia "Disgenet " 5261 HSPD1 "Childhood autism" MONDO_0005260 "Disgenet " 5261 HSPD1 "Coronary Disease" MONDO_0005010 "Disgenet " 5261 HSPD1 "LEUKODYSTROPHY, HYPOMYELINATING, 4" MONDO_0012824 "Disgenet " 5261 HSPD1 "SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT" MONDO_0011532 "Disgenet " 5261 HSPD1 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 5261 HSPD1 "Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant" MONDO_0019064 "Disgenet " 5261 HSPD1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 5261 HSPD1 "HIV infection" MONDO_0005109 "Disgenet " 5261 HSPD1 "Acute Coronary Syndrome" MONDO_0005542 "Disgenet " 5261 HSPD1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 5261 HSPD1 Adenocarcinoma MONDO_0004970 "Disgenet " 5261 HSPD1 "Paraplegias, Spastic" MONDO_0003757 "Disgenet " 5270 DNAJB1 "Hepatocellular carcinoma, fibrolamellar" MONDO_0006210 "Disgenet " 5270 DNAJB1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 5273 HSPG2 SJS1 MONDO_0005516 "Disgenet " 5273 HSPG2 "Silverman-Handmaker type dyssegmental dysplasia" MONDO:0009140 "ClinGen " 5273 HSPG2 "Schwartz-Jampel syndrome type 1" MONDO:0100435 "ClinGen " 5273 HSPG2 DDSH MONDO_0009140 "Disgenet " 5273 HSPG2 SJS MONDO_0005516 "Disgenet " 5273 HSPG2 "Myotonic disorders" MONDO_0016120 "Disgenet " 5287 HTR1B "Bipolar Disorders" MONDO_0004985 "Disgenet " 5287 HTR1B "Affective Disorders" MONDO_0005371 "Disgenet " 5287 HTR1B "Cocaine dependence" MONDO_0005186 "Disgenet " 5287 HTR1B "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 5287 HTR1B "Depressions, Unipolar" MONDO_0002050 "Disgenet " 5287 HTR1B "Depressive neurosis" MONDO_0002050 "Disgenet " 5287 HTR1B Depression MONDO_0002050 "Disgenet " 5287 HTR1B Alcoholism MONDO_0002046 "Disgenet " 5293 HTR2A Hallucination "Disgenet " 5293 HTR2A "Bipolar Disorders" MONDO_0004985 "Disgenet " 5293 HTR2A Depression MONDO_0002050 "Disgenet " 5293 HTR2A "Major depressive disorder, single episode, unspecified degree" MONDO_0002050 "Disgenet " 5293 HTR2A Asthma MONDO_0004979 "Disgenet " 5293 HTR2A Dyskinesia MONDO_0003441 "Disgenet " 5293 HTR2A "High blood pressure" MONDO_0005044 "Disgenet " 5293 HTR2A "severe major depressive disorder with psychotic features" "Disgenet " 5293 HTR2A "Disease, Metabolic" MONDO_0005066 "Disgenet " 5293 HTR2A "Affective Disorder, Seasonal" MONDO_0000694 "Disgenet " 5293 HTR2A "Dependence, Nicotine" MONDO_0008575 "Disgenet " 5293 HTR2A Schizophrenias MONDO_0005090 "Disgenet " 5293 HTR2A Alcoholism MONDO_0002046 "Disgenet " 5293 HTR2A "Disorders, Obsessive-Compulsive" MONDO_0008114 "Disgenet " 5293 HTR2A "Depressive neurosis" MONDO_0002050 "Disgenet " 5293 HTR2A Obesity MONDO_0019182 "Disgenet " 5293 HTR2A COPD MONDO_0005002 "Disgenet " 5293 HTR2A "Cocaine dependence" MONDO_0005186 "Disgenet " 5293 HTR2A "Fatty Liver" MONDO_0004790 "Disgenet " 5293 HTR2A "MIGRAINE HEADACHE" MONDO_0005277 "Disgenet " 5293 HTR2A "Abuse, Alcohol" MONDO_0002046 "Disgenet " 5293 HTR2A "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 5293 HTR2A "Depressions, Unipolar" MONDO_0002050 "Disgenet " 5293 HTR2A "Affective Disorders" MONDO_0005371 "Disgenet " 5293 HTR2A "Childhood autism" MONDO_0005260 "Disgenet " 5293 HTR2A "Anorexia Nervosa" MONDO_0005351 "Disgenet " 5299 HTR4 "Depressive neurosis" MONDO_0002050 "Disgenet " 5299 HTR4 "Bipolar Disorders" MONDO_0004985 "Disgenet " 5299 HTR4 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 5299 HTR4 Schizophrenias MONDO_0005090 "Disgenet " 5299 HTR4 Depression MONDO_0002050 "Disgenet " 5299 HTR4 Arrhythmia MONDO_0007263 "Disgenet " 5299 HTR4 "Affective Disorders" MONDO_0005371 "Disgenet " 53 ABCC2 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 53 ABCC2 Cholangiocarcinoma MONDO_0019087 "Disgenet " 53 ABCC2 "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 53 ABCC2 "Liver Cirrhoses, Biliary" MONDO_0005388 "Disgenet " 53 ABCC2 "Status Epilepticus" MONDO_0002125 "Disgenet " 53 ABCC2 "Hereditary Hyperbilirubinemia" MONDO_0002408 "Disgenet " 53 ABCC2 "Bile Duct Obstructions" MONDO_0001751 "Disgenet " 53 ABCC2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 53 ABCC2 ALL MONDO_0004967 "Disgenet " 53 ABCC2 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 53 ABCC2 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 53 ABCC2 "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 53 ABCC2 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 53 ABCC2 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 53 ABCC2 "Chronic Idiopathic Jaundices" MONDO_0009380 "Disgenet " 53 ABCC2 Bilirubinemias MONDO_0024288 "Disgenet " 5318 TNC DFNA56 MONDO_0014283 "Disgenet " 5318 TNC Endometrioses MONDO_0005133 "Disgenet " 5318 TNC "lung injury" "Disgenet " 5318 TNC "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 5318 TNC Asthma MONDO_0004979 "Disgenet " 5318 TNC Melanoma MONDO_0005105 "Disgenet " 5320 HYAL1 "mucopolysaccharidosis type 9" MONDO:0011093 "ClinGen " 5320 HYAL1 MPS9 MONDO_0011093 "Disgenet " 5320 HYAL1 Mucopolysaccharidoses MONDO_0019249 "Disgenet " 533 ANXA1 "Lymphatic Metastases" "Disgenet " 533 ANXA1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 533 ANXA1 "Mouth Neoplasm" MONDO_0021245 "Disgenet " 533 ANXA1 Epithelioma MONDO_0004993 "Disgenet " 533 ANXA1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 533 ANXA1 Nephropathy MONDO_0005240 "Disgenet " 533 ANXA1 Carcinoma MONDO_0004993 "Disgenet " 533 ANXA1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 533 ANXA1 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 533 ANXA1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 533 ANXA1 "High blood pressure" MONDO_0005044 "Disgenet " 5330 IARS1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 5330 IARS1 GRIDHH MONDO_0014911 "Disgenet " 5331 NOD2 "Blau syndrome" MONDO:0008523 "ClinGen " 5331 NOD2 "Colitis, granulomatous" MONDO_0005011 "Disgenet " 5331 NOD2 Leprosy MONDO_0005124 "Disgenet " 5331 NOD2 Dermatitides MONDO_0002406 "Disgenet " 5331 NOD2 YAOS MONDO_0015019 "Disgenet " 5331 NOD2 "Cancer, Breast" MONDO_0007254 "Disgenet " 5331 NOD2 "Coronary Disease" MONDO_0005010 "Disgenet " 5331 NOD2 "Bronchiolitis Obliterans" MONDO_0015265 "Disgenet " 5331 NOD2 "Tuberculosis, Pulmonary" MONDO_0957462 "Disgenet " 5331 NOD2 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 5331 NOD2 "SARCOIDOSIS, EARLY-ONSET" MONDO_0008523 "Disgenet " 5331 NOD2 "Ulcerative colitis" MONDO_0005101 "Disgenet " 5331 NOD2 "Pyoderma Gangrenosum" MONDO_0018824 "Disgenet " 5331 NOD2 "Hidradenitis Suppurativa" MONDO_0006559 "Disgenet " 5331 NOD2 "Malignant neoplasm of larynx" MONDO_0002352 "Disgenet " 5331 NOD2 "Behcet Syndrome" MONDO_0007191 "Disgenet " 5331 NOD2 "Crohn Disease" MONDO_0005011 "Disgenet " 5331 NOD2 ACUG MONDO_0008523 "Disgenet " 5331 NOD2 "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 5331 NOD2 "BLAU SYNDROME" MONDO_0008523 "Disgenet " 5331 NOD2 "Disease, Graft-Versus-Host" MONDO_0013730 "Disgenet " 5331 NOD2 Asthma MONDO_0004979 "Disgenet " 5331 NOD2 "Disease, Intestinal" MONDO_0005020 "Disgenet " 5331 NOD2 "Autoinflammatory disease" MONDO_0019751 "Disgenet " 5341 IBSP "Breast Neoplasms" MONDO_0021100 "Disgenet " 5343 ICA1 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 5344 ICAM1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 5344 ICAM1 "GRAVES DISEASE" MONDO_0005364 "Disgenet " 5344 ICAM1 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 5344 ICAM1 Hypercholesteremias "Disgenet " 5344 ICAM1 "Ulcerative colitis" MONDO_0005101 "Disgenet " 5344 ICAM1 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 5344 ICAM1 Bronchiectases MONDO_0004822 "Disgenet " 5344 ICAM1 "Biliary Atresia" MONDO_0008867 "Disgenet " 5344 ICAM1 "Dysthyroid exophthalmos" MONDO_0018756 "Disgenet " 5344 ICAM1 Leukostases MONDO_0006831 "Disgenet " 5344 ICAM1 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 5344 ICAM1 "Hodgkin's granuloma" MONDO_0004952 "Disgenet " 5344 ICAM1 "Respiratory Syncytial Virus Infections" MONDO_0001577 "Disgenet " 5344 ICAM1 "High blood pressure" MONDO_0005044 "Disgenet " 5344 ICAM1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 5344 ICAM1 Obesity MONDO_0019182 "Disgenet " 5344 ICAM1 "Multiple Myeloma" MONDO_0009693 "Disgenet " 5344 ICAM1 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 5344 ICAM1 "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 5344 ICAM1 COPD MONDO_0005002 "Disgenet " 5344 ICAM1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 5344 ICAM1 "Infection, Plasmodium" MONDO_0005136 "Disgenet " 5344 ICAM1 "Acute Lung Injury" MONDO_0015796 "Disgenet " 5344 ICAM1 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 5344 ICAM1 Retinopathy MONDO_0005283 "Disgenet " 5344 ICAM1 "Cerebrovascular accident" MONDO_0005098 "Disgenet " 5344 ICAM1 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 5344 ICAM1 "Behcet Syndrome" MONDO_0007191 "Disgenet " 5344 ICAM1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 5344 ICAM1 Asthma MONDO_0004979 "Disgenet " 5344 ICAM1 Psoriases MONDO_0005083 "Disgenet " 5344 ICAM1 "Cardiovascular Disease" MONDO_0004995 "Disgenet " 5344 ICAM1 Atherosclerosis MONDO_0005311 "Disgenet " 5344 ICAM1 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 5344 ICAM1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 5344 ICAM1 "Mouth Neoplasm" MONDO_0021245 "Disgenet " 5344 ICAM1 "Bile Duct Obstructions" MONDO_0001751 "Disgenet " 5344 ICAM1 Schizophrenias MONDO_0005090 "Disgenet " 5344 ICAM1 "Malignant melanoma of skin" MONDO_0005012 "Disgenet " 5345 ICAM2 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 535 ANXA11 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 535 ANXA11 "MULTISYSTEM PROTEINOPATHY 6" MONDO_0850514 "Disgenet " 535 ANXA11 "amyotrophic lateral sclerosis type 23" MONDO:0027694 "ClinGen " 535 ANXA11 "Disease, Schaumann" MONDO_0008399 "Disgenet " 535 ANXA11 "AMYOTROPHIC LATERAL SCLEROSIS 23" MONDO_0027694 "Disgenet " 5351 ICOS "Celiac Disease" MONDO_0005130 "Disgenet " 5351 ICOS "Common Variable Immunodeficiency" MONDO_0015517 "Disgenet " 5351 ICOS "common variable immunodeficiency" MONDO:0015517 "ClinGen " 5358 IRF8 "IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT" MONDO_0013957 "Disgenet " 5358 IRF8 "IMMUNODEFICIENCY 32B" MONDO_0009194 "Disgenet " 5358 IRF8 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 5358 IRF8 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 5358 IRF8 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 5358 IRF8 "Behcet Syndrome" MONDO_0007191 "Disgenet " 5358 IRF8 "Cancer, Breast" MONDO_0007254 "Disgenet " 5358 IRF8 "Multiple Myeloma" MONDO_0009693 "Disgenet " 5361 ID2 "congenital heart disease" MONDO:0005453 "ClinGen " 5361 ID2 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 5362 ID3 "Lung Neoplasm" MONDO_0002732 "Disgenet " 5362 ID3 "Burkitt Lymphoma" MONDO_0007243 "Disgenet " 5362 ID3 Adenocarcinoma MONDO_0004970 "Disgenet " 5362 ID3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 5363 ID4 Carcinoma MONDO_0004993 "Disgenet " 537 ANXA2 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 537 ANXA2 Osteoporoses MONDO_0005298 "Disgenet " 537 ANXA2 "Lung Neoplasm" MONDO_0002732 "Disgenet " 537 ANXA2 "Liver Neoplasm" MONDO_0002691 "Disgenet " 537 ANXA2 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 537 ANXA2 "Mesothelioma, malignant" MONDO_0006292 "Disgenet " 5381 IDE Schizophrenias MONDO_0005090 "Disgenet " 5381 IDE "Alzheimer Disease" MONDO_0012630 "Disgenet " 5381 IDE "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 5382 IDH1 Gliomas MONDO_0021042 "Disgenet " 5382 IDH1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 5382 IDH1 Glioblastoma MONDO_0018177 "Disgenet " 5382 IDH1 Astrocytoma MONDO_0019781 "Disgenet " 5382 IDH1 ALL MONDO_0004967 "Disgenet " 5382 IDH1 Hemangioma MONDO_0006500 "Disgenet " 5382 IDH1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 5382 IDH1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 5382 IDH1 "WELL DIFFER OLIGODENDROGLIOMA" MONDO_0016695 "Disgenet " 5382 IDH1 "Syndrome, Maffucci" MONDO_0008931 "Disgenet " 5382 IDH1 "Disease, Ollier" MONDO_0013808 "Disgenet " 5382 IDH1 Medulloblastoma MONDO_0007959 "Disgenet " 5382 IDH1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 5382 IDH1 Chondroma MONDO_0002360 "Disgenet " 5382 IDH1 "glioma of brain stem (diagnosis)" MONDO_0002911 "Disgenet " 5382 IDH1 "adenocarcinoma of prostate gland" MONDO_0005082 "Disgenet " 5382 IDH1 Lymphomas MONDO_0005062 "Disgenet " 5382 IDH1 "Diffuse Midline Glioma, H3 K27-Altered" "Disgenet " 5382 IDH1 "glioblastoma multiforme adult" MONDO_0020690 "Disgenet " 5382 IDH1 Gliosarcoma MONDO_0016681 "Disgenet " 5382 IDH1 "Brain Neoplasms" MONDO_0021211 "Disgenet " 5382 IDH1 "Primary Glioblastoma" MONDO_0018177 "Disgenet " 5382 IDH1 CRC MONDO_0005335 "Disgenet " 5382 IDH1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 5382 IDH1 "Dysmyelopoietic Syndrome" MONDO_0018881 "Disgenet " 5382 IDH1 Cholangiocarcinoma MONDO_0019087 "Disgenet " 5382 IDH1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 5382 IDH1 "Glioma, malignant" MONDO_0100342 "Disgenet " 5383 IDH2 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 5383 IDH2 "Intrahepatic bile duct carcinoma" MONDO_0003210 "Disgenet " 5383 IDH2 "Dysmyelopoietic Syndrome" MONDO_0018881 "Disgenet " 5383 IDH2 "mitochondrial disease" MONDO:0044970 "ClinGen " 5383 IDH2 "Lymphoma, Peripheral T-Cell" MONDO_0004964 "Disgenet " 5383 IDH2 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 5383 IDH2 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 5383 IDH2 "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 5383 IDH2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 5383 IDH2 Chondroma MONDO_0002360 "Disgenet " 5383 IDH2 "Anaplastic oligoastrocytoma" MONDO_0016703 "Disgenet " 5383 IDH2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 5383 IDH2 "Fibrillary astrocytoma" MONDO_0016688 "Disgenet " 5383 IDH2 "Oligodendroglioma, anaplastic" MONDO_0016696 "Disgenet " 5383 IDH2 "Mixed Oligoastrocytoma" MONDO_0016702 "Disgenet " 5383 IDH2 "Anaplastic astrocytoma" MONDO_0019781 "Disgenet " 5383 IDH2 "D-2-HYDROXYGLUTARIC ACIDURIA 2" MONDO_0013345 "Disgenet " 5383 IDH2 Hemangioma MONDO_0006500 "Disgenet " 5383 IDH2 "Brain Neoplasms" MONDO_0021211 "Disgenet " 5383 IDH2 "Syndrome, Maffucci" MONDO_0008931 "Disgenet " 5383 IDH2 "D-2-hydroxyglutaric aciduria" MONDO_0016001 "Disgenet " 5383 IDH2 "Angioimmunoblastic Lymphadenopathies" MONDO_0004977 "Disgenet " 5383 IDH2 "WELL DIFFER OLIGODENDROGLIOMA" MONDO_0016695 "Disgenet " 5383 IDH2 Oligodendroglioma MONDO_0016695 "Disgenet " 5383 IDH2 Cholangiocarcinoma MONDO_0019087 "Disgenet " 5383 IDH2 "Disease, Ollier" MONDO_0013808 "Disgenet " 5384 IDH3A "RETINITIS PIGMENTOSA 90" MONDO_0033563 "Disgenet " 5385 IDH3B "IDH3B-related retinopathy" MONDO:0800393 "ClinGen " 5385 IDH3B RP46 MONDO_0012943 "Disgenet " 5389 IDS "mucopolysaccharidosis type 2" MONDO:0010674 "ClinGen " 5389 IDS "Hunters Syndrome" MONDO_0010674 "Disgenet " 5391 IDUA "Mucopolysaccharidosis V" MONDO_0011760 "Disgenet " 5391 IDUA "Pfaundler-Hurler Syndrome" MONDO_0011758 "Disgenet " 5391 IDUA Lipochondrodystrophies MONDO_0001586 "Disgenet " 5391 IDUA "mucopolysaccharidosis type 1" MONDO:0001586 "ClinGen " 5391 IDUA Mucopolysaccharidoses MONDO_0019249 "Disgenet " 5391 IDUA "Hurler Scheie Syndrome" MONDO_0011759 "Disgenet " 5394 CFI "COMPLEMENT FACTOR I DEFICIENCY" MONDO_0012594 "Disgenet " 5394 CFI "Non-Shiga-Like Toxin-Associated HUSs" MONDO_0016244 "Disgenet " 5394 CFI "MACULAR DEGENERATION, AGE-RELATED, 13" MONDO_0014189 "Disgenet " 5394 CFI "C3 glomerulonephritis" MONDO:0013892 "ClinGen " 5394 CFI "atypical hemolytic-uremic syndrome" MONDO:0016244 "ClinGen " 5394 CFI "EMD - Exudative macular degeneration" MONDO_0005417 "Disgenet " 5394 CFI "Degeneration, Macular" MONDO_0003004 "Disgenet " 5399 IFI35 Flu MONDO_0005812 "Disgenet " 54 ABCC3 "Bile Duct Obstructions" MONDO_0001751 "Disgenet " 54 ABCC3 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 5401 SP110 "HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY" MONDO_0009338 "Disgenet " 5401 SP110 "hepatic veno-occlusive disease-immunodeficiency syndrome" MONDO:0009338 "ClinGen " 541 ANXA3 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 541 ANXA3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 5414 IFITM3 "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 5414 IFITM3 Flu MONDO_0005812 "Disgenet " 542 ANXA4 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 542 ANXA4 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 542 ANXA4 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 542 ANXA4 "Liver Neoplasm" MONDO_0002691 "Disgenet " 543 ANXA5 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 543 ANXA5 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 543 ANXA5 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 543 ANXA5 "Mouth Neoplasm" MONDO_0021245 "Disgenet " 543 ANXA5 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 543 ANXA5 "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 5432 IFNAR1 "immunodeficiency 106, susceptibility to viral infections" MONDO:0030970 "ClinGen " 5432 IFNAR1 "Viral illness" MONDO_0005108 "Disgenet " 5432 IFNAR1 "Hepatitis C" MONDO_0005231 "Disgenet " 5433 IFNAR2 "Hepatitis B" MONDO_0005344 "Disgenet " 5433 IFNAR2 "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 5438 IFNG Depression MONDO_0002050 "Disgenet " 5438 IFNG "Hepatitis B" MONDO_0005344 "Disgenet " 5438 IFNG "HIV infection" MONDO_0005109 "Disgenet " 5438 IFNG "Lung Neoplasm" MONDO_0002732 "Disgenet " 5438 IFNG "Celiac Disease" MONDO_0005130 "Disgenet " 5438 IFNG Schizophrenias MONDO_0005090 "Disgenet " 5438 IFNG "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 5438 IFNG Pneumonia MONDO_0005249 "Disgenet " 5438 IFNG Atherosclerosis MONDO_0005311 "Disgenet " 5438 IFNG "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 5438 IFNG "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 5438 IFNG "Cutaneous Leishmaniases" MONDO_0005446 "Disgenet " 5438 IFNG "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 5438 IFNG "Hyper IgE Syndrome" MONDO_0018037 "Disgenet " 5438 IFNG Adrenoleukodystrophy MONDO_0018544 "Disgenet " 5438 IFNG "Arthritis, Infectious" MONDO_0042485 "Disgenet " 5438 IFNG "Paranoid Schizophrenia" MONDO_0001484 "Disgenet " 5438 IFNG "Bronchiolitis Obliterans" MONDO_0015265 "Disgenet " 5438 IFNG "Chronic Granulomatous Diseases" MONDO_0018305 "Disgenet " 5438 IFNG "Cancer, Breast" MONDO_0007254 "Disgenet " 5438 IFNG "Atopic Eczema" MONDO_0011292 "Disgenet " 5438 IFNG "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 5438 IFNG "Hepatitis C" MONDO_0005231 "Disgenet " 5438 IFNG Colitides MONDO_0005534 "Disgenet " 5438 IFNG Sepsis MONDO_0005229 "Disgenet " 5438 IFNG Leishmaniases MONDO_0011989 "Disgenet " 5438 IFNG "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 5438 IFNG Vitiligo MONDO_0008661 "Disgenet " 5438 IFNG "Hemophilia A" MONDO_0010602 "Disgenet " 5438 IFNG "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 5438 IFNG "Multiple Sclerosis" MONDO_0005301 "Disgenet " 5438 IFNG "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 5438 IFNG "Aplastic anemia" MONDO_0015909 "Disgenet " 5438 IFNG "Glomerulonephritides, Lupus" MONDO_0005556 "Disgenet " 5438 IFNG "GRAVES DISEASE" MONDO_0005364 "Disgenet " 5438 IFNG "Disease, Graft-Versus-Host" MONDO_0013730 "Disgenet " 5438 IFNG "Breast Neoplasms" MONDO_0021100 "Disgenet " 5438 IFNG Melanoma MONDO_0005105 "Disgenet " 5438 IFNG "Acquired Immuno Deficiency Syndrome" MONDO_0017769 "Disgenet " 5438 IFNG "KIDNEY FAILURE" MONDO_0001106 "Disgenet " 5438 IFNG "Tuberous Sclerosis" MONDO_0001734 "Disgenet " 5438 IFNG "Childhood autism" MONDO_0005260 "Disgenet " 5438 IFNG Glomerulonephritides MONDO_0002462 "Disgenet " 5438 IFNG "human T cell leukemia" MONDO_0019471 "Disgenet " 5438 IFNG "Eczema herpeticum" MONDO_0004712 "Disgenet " 5438 IFNG "Ataxia Telangiectasia" MONDO_0008840 "Disgenet " 5438 IFNG "acute schizophrenia" "Disgenet " 5438 IFNG "Leishmaniases, Mucocutaneous" MONDO_0005859 "Disgenet " 5438 IFNG "Congestive heart failure" MONDO_0005252 "Disgenet " 5438 IFNG "Bipolar Disorders" MONDO_0004985 "Disgenet " 5438 IFNG "Myeloid Leukemias" MONDO_0004643 "Disgenet " 5438 IFNG "Respiratory Syncytial Virus Infections" MONDO_0001577 "Disgenet " 5438 IFNG "Chronic hepatitis, unspecified" MONDO_0002251 "Disgenet " 5438 IFNG "Arteritides, Giant Cell" MONDO_0008538 "Disgenet " 5438 IFNG "Mesothelioma, malignant" MONDO_0006292 "Disgenet " 5438 IFNG SARS MONDO_0005091 "Disgenet " 5438 IFNG "Kala Azar" MONDO_0005445 "Disgenet " 5438 IFNG Mesothelioma MONDO_0005065 "Disgenet " 5438 IFNG ALL MONDO_0004967 "Disgenet " 5438 IFNG "Dermatitis, Allergic Contact" MONDO_0006525 "Disgenet " 5438 IFNG "Depressions, Unipolar" MONDO_0002050 "Disgenet " 5438 IFNG "Autoimmune Hepatitides" MONDO_0016264 "Disgenet " 5438 IFNG "Heart failure" MONDO_0005252 "Disgenet " 5439 IFNGR1 "Interferon gamma, receptor 1, deficiency" MONDO_0008856 "Disgenet " 5439 IFNGR1 "Behcet Syndrome" MONDO_0007191 "Disgenet " 5439 IFNGR1 "Hepatitis B" MONDO_0005344 "Disgenet " 5440 IFNGR2 "IFNGR2 DEFICIENCY" MONDO_0013953 "Disgenet " 545 ANXA7 "Liver Neoplasm" MONDO_0002691 "Disgenet " 5461 IGBP1 MRXS28 MONDO_0010333 "Disgenet " 5461 IGBP1 "corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome" MONDO:0010333 "ClinGen " 5464 IGF1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 5464 IGF1 "Depressive neurosis" MONDO_0002050 "Disgenet " 5464 IGF1 Adenoma MONDO_0004972 "Disgenet " 5464 IGF1 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 5464 IGF1 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 5464 IGF1 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 5464 IGF1 "INSULIN-LIKE GROWTH FACTOR I DEFICIENCY" MONDO_0012110 "Disgenet " 5464 IGF1 Depression MONDO_0002050 "Disgenet " 5464 IGF1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 5464 IGF1 "High blood pressure" MONDO_0005044 "Disgenet " 5464 IGF1 "Neoplasm, Pituitary" MONDO_0002109 "Disgenet " 5464 IGF1 Endometrioses MONDO_0005133 "Disgenet " 5464 IGF1 Nephropathy MONDO_0005240 "Disgenet " 5464 IGF1 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 5464 IGF1 Acne MONDO_0011438 "Disgenet " 5464 IGF1 "Chorea, Huntington" MONDO_0011671 "Disgenet " 5464 IGF1 Microcephalies MONDO_0001149 "Disgenet " 5464 IGF1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 5464 IGF1 Delirium MONDO_0045057 "Disgenet " 5464 IGF1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 5464 IGF1 "Neoplasm, Skin" MONDO_0002531 "Disgenet " 5464 IGF1 "Precocious puberty" MONDO_0007690 "Disgenet " 5464 IGF1 "Childhood autism" MONDO_0005260 "Disgenet " 5464 IGF1 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 5464 IGF1 "Acute kidney injury" MONDO_0002492 "Disgenet " 5464 IGF1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 5464 IGF1 "Demyelinating Disease" MONDO_0002562 "Disgenet " 5464 IGF1 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 5464 IGF1 "Diaphragmatic Hernias" MONDO_0005711 "Disgenet " 5464 IGF1 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 5464 IGF1 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 5464 IGF1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 5464 IGF1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 5464 IGF1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 5464 IGF1 Nearsightedness MONDO_0001384 "Disgenet " 5464 IGF1 Acromegaly MONDO_0019933 "Disgenet " 5464 IGF1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 5464 IGF1 "Bone Disease, Metabolic" MONDO_0800486 "Disgenet " 5464 IGF1 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 5464 IGF1 "Diabetic cardiomyopathy" "Disgenet " 5464 IGF1 "Bile Duct Obstructions" MONDO_0001751 "Disgenet " 5464 IGF1 Colitides MONDO_0005534 "Disgenet " 5464 IGF1 "Abuse, Alcohol" MONDO_0002046 "Disgenet " 5464 IGF1 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 5464 IGF1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 5465 IGF1R "Dementia, Vascular" MONDO_0004648 "Disgenet " 5465 IGF1R "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 5465 IGF1R Craniosynostosis MONDO_0015469 "Disgenet " 5465 IGF1R "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 5465 IGF1R "Alzheimer Disease" MONDO_0012630 "Disgenet " 5465 IGF1R Neuroblastoma MONDO_0005072 "Disgenet " 5465 IGF1R Gliomas MONDO_0021042 "Disgenet " 5465 IGF1R Nephroblastoma MONDO_0019004 "Disgenet " 5465 IGF1R Osteoporoses MONDO_0005298 "Disgenet " 5465 IGF1R "Glioma, malignant" MONDO_0100342 "Disgenet " 5465 IGF1R "adenocarcinoma of prostate gland" MONDO_0005082 "Disgenet " 5465 IGF1R "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 5465 IGF1R neurotoxicity MONDO_0005527 "Disgenet " 5465 IGF1R "Neoplasm, Skin" MONDO_0002531 "Disgenet " 5465 IGF1R "Adrenal cortical carcinoma" MONDO_0006639 "Disgenet " 5465 IGF1R hypernephroma MONDO_0005086 "Disgenet " 5465 IGF1R "Parkinson Disease" MONDO_0014796 "Disgenet " 5465 IGF1R "Atrial Fibrillation" MONDO_0004981 "Disgenet " 5465 IGF1R "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 5465 IGF1R "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 5465 IGF1R "INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO" MONDO_0010038 "Disgenet " 5465 IGF1R "Childhood Renal Wilms' Tumor" MONDO_0024676 "Disgenet " 5465 IGF1R "Liver cell carcinoma" MONDO_0007256 "Disgenet " 5465 IGF1R "Breast Neoplasms" MONDO_0021100 "Disgenet " 5466 IGF2 Nephroblastoma MONDO_0019004 "Disgenet " 5466 IGF2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 5466 IGF2 Hepatoblastoma MONDO_0018666 "Disgenet " 5466 IGF2 "Alzheimer Disease" MONDO_0012630 "Disgenet " 5466 IGF2 "Adrenal cortical carcinoma" MONDO_0006639 "Disgenet " 5466 IGF2 "Beckwith Wiedemann Syndrome" MONDO_0013038 "Disgenet " 5466 IGF2 RSS MONDO_0008394 "Disgenet " 5466 IGF2 "Parkinson Disease" MONDO_0014796 "Disgenet " 5466 IGF2 "Childhood autism" MONDO_0005260 "Disgenet " 5466 IGF2 HHP MONDO_0009331 "Disgenet " 5466 IGF2 Hypoglycemia MONDO_0004946 "Disgenet " 5466 IGF2 "Silver-Russell syndrome 3" MONDO:0014663 "ClinGen " 5466 IGF2 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 5466 IGF2 Chorioepithelioma MONDO_0005207 "Disgenet " 5466 IGF2 Schizophrenias MONDO_0005090 "Disgenet " 5466 IGF2 Anemia MONDO_0002280 "Disgenet " 5466 IGF2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 5466 IGF2 Atherosclerosis MONDO_0005311 "Disgenet " 5466 IGF2 "Childhood Renal Wilms' Tumor" MONDO_0024676 "Disgenet " 5466 IGF2 Obesity MONDO_0019182 "Disgenet " 5466 IGF2 Rhabdomyosarcoma MONDO_0005212 "Disgenet " 5466 IGF2 "Liver Neoplasm" MONDO_0002691 "Disgenet " 5466 IGF2 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 5467 IGF2R "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 5467 IGF2R "Beckwith Wiedemann Syndrome" MONDO_0013038 "Disgenet " 5467 IGF2R "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 5467 IGF2R "Liver cell carcinoma" MONDO_0007256 "Disgenet " 5467 IGF2R "Parkinson Disease" MONDO_0014796 "Disgenet " 5467 IGF2R "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 5467 IGF2R "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 5467 IGF2R "Carcinoma in situ of breast" MONDO_0004658 "Disgenet " 5469 IGFBP1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 5469 IGFBP1 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 5469 IGFBP1 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 5469 IGFBP1 Endometrioses MONDO_0005133 "Disgenet " 5471 IGFBP2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 5471 IGFBP2 Obesity MONDO_0019182 "Disgenet " 5472 IGFBP3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 5472 IGFBP3 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 5472 IGFBP3 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 5472 IGFBP3 "Cancer, Breast" MONDO_0007254 "Disgenet " 5472 IGFBP3 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 5472 IGFBP3 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 5472 IGFBP3 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 5472 IGFBP3 "Alzheimer Disease" MONDO_0012630 "Disgenet " 5472 IGFBP3 "XO syndrome" MONDO_0019499 "Disgenet " 5472 IGFBP3 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 5472 IGFBP3 CRC MONDO_0005335 "Disgenet " 5472 IGFBP3 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 5472 IGFBP3 "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 5472 IGFBP3 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 5474 IGFBP5 "Breast Neoplasms" MONDO_0021100 "Disgenet " 5474 IGFBP5 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 5474 IGFBP5 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 5475 IGFBP6 Obesity MONDO_0019182 "Disgenet " 5475 IGFBP6 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 5476 IGFBP7 "RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS" MONDO_0013640 "Disgenet " 5476 IGFBP7 "Breast Neoplasms" MONDO_0021100 "Disgenet " 5476 IGFBP7 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 5476 IGFBP7 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 55 ABCC4 "qualitative platelet defect" MONDO:0001197 "ClinGen " 55 ABCC4 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 55 ABCC4 Endometrioses MONDO_0005133 "Disgenet " 55 ABCC4 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 55 ABCC4 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 550 AOC3 "High blood pressure" MONDO_0005044 "Disgenet " 550 AOC3 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 550 AOC3 "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 550 AOC3 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 553 AOX1 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 553 AOX1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 554 AP1B1 "Keratitis-ichthyosis-deafness syndrome, autosomal recessive" MONDO_0009440 "Disgenet " 554 AP1B1 "ichthyosiform erythroderma, corneal involvement, and hearing loss" MONDO:0009440 "ClinGen " 5542 IGHMBP2 "hereditary peripheral neuropathy" MONDO:0020127 "ClinGen " 5542 IGHMBP2 "Motor Neuron Disease" MONDO_0008780 "Disgenet " 5542 IGHMBP2 "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S" MONDO_0014511 "Disgenet " 5542 IGHMBP2 SIANRF MONDO_0011436 "Disgenet " 5542 IGHMBP2 "Atrophy, Spinal Muscular" MONDO_0001516 "Disgenet " 5542 IGHMBP2 "Distal spinal muscular atrophy" MONDO_0001516 "Disgenet " 5542 IGHMBP2 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 5542 IGHMBP2 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 555 AP1G1 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 555 AP1G1 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 559 AP1S1 "MEDNIK syndrome" MONDO:0012251 "ClinGen " 559 AP1S1 "Erythrokeratodermia Variabilis, Kamouraska Type" MONDO_0012251 "Disgenet " 56 ABCC5 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 560 AP1S2 MRXS5 MONDO_0010574 "Disgenet " 560 AP1S2 "X-linked syndromic intellectual disability" MONDO:0020119 "ClinGen " 565 AP2S1 "HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III" MONDO_0010926 "Disgenet " 566 AP3B1 "Hermanski Pudlak Syndrome" MONDO_0019312 "Disgenet " 566 AP3B1 HPS2 MONDO_0011997 "Disgenet " 566 AP3B1 "Hermansky-Pudlak syndrome 2" MONDO:0011997 "ClinGen " 566 AP3B1 Neutropenia MONDO_0001475 "Disgenet " 57 ABCC6 IIAC MONDO_0018870 "Disgenet " 57 ABCC6 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 57 ABCC6 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 57 ABCC6 "Cutis Laxa" MONDO_0007411 "Disgenet " 57 ABCC6 "Pseudoxanthoma Elasticum" MONDO_0009925 "Disgenet " 571 AP3S2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 572 AP4B1 "Paraplegias, Spastic" MONDO_0003757 "Disgenet " 572 AP4B1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 572 AP4B1 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 572 AP4B1 "AP-4 deficiency syndrome" MONDO:0100176 "ClinGen " 572 AP4B1 SPG47 MONDO_0013551 "Disgenet " 5724 RBPJ "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 5724 RBPJ "adams oliver syndrome" MONDO_0007034 "Disgenet " 573 AP4E1 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 573 AP4E1 Stuttering MONDO_0000723 "Disgenet " 573 AP4E1 "AP-4 deficiency syndrome" MONDO:0100176 "ClinGen " 574 AP4M1 "AP-4 deficiency syndrome" MONDO:0100176 "ClinGen " 574 AP4M1 "AP4 deficiency syndrome" "Disgenet " 574 AP4M1 "SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE" MONDO_0013048 "Disgenet " 574 AP4M1 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 574 AP4M1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 575 AP4S1 "AP4 deficiency syndrome" "Disgenet " 575 AP4S1 "AP-4 deficiency syndrome" MONDO:0100176 "ClinGen " 575 AP4S1 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 575 AP4S1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 575 AP4S1 "Paraplegias, Spastic" MONDO_0003757 "Disgenet " 576 APAF1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 576 APAF1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 576 APAF1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 576 APAF1 "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 581 APBB1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 582 APBB2 "Alzheimer Disease" MONDO_0012630 "Disgenet " 583 APC Cholangiocarcinoma MONDO_0019087 "Disgenet " 583 APC "Acinar cell carcinoma" MONDO_0004965 "Disgenet " 583 APC "ADENOMATOUS POLYPOSIS COLI, ATTENUATED" MONDO_0016362 "Disgenet " 583 APC "Gastric adenocarcinoma and proximal polyposis of stomach (disorder)" MONDO_0017790 "Disgenet " 583 APC "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 583 APC "DESMOID DISEASE, HEREDITARY" MONDO_0007608 "Disgenet " 583 APC "Lynch Syndrome" MONDO_0005835 "Disgenet " 583 APC "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 583 APC Endometrium MONDO_0011962 "Disgenet " 583 APC "Multiple gastric polyps" MONDO_0008277 "Disgenet " 583 APC "Renal cell carcinoma" MONDO_0005549 "Disgenet " 583 APC "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 583 APC "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 583 APC "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 583 APC Adenocarcinoma MONDO_0004970 "Disgenet " 583 APC "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 583 APC CRC MONDO_0005335 "Disgenet " 583 APC "Intestinal Neoplasm" MONDO_0005814 "Disgenet " 583 APC "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 583 APC "classic or attenuated familial adenomatous polyposis" MONDO:0021057 "ClinGen " 583 APC "Neuroectodermal Tumor, Primitive" MONDO_0005462 "Disgenet " 583 APC "gastric adenocarcinoma and proximal polyposis of the stomach" MONDO:0017790 "ClinGen " 583 APC "Colorectal Neoplasms, Hereditary Nonpolyposis" MONDO_0005835 "Disgenet " 583 APC Hepatoblastoma MONDO_0018666 "Disgenet " 583 APC "Adenomatous Polyps" "Disgenet " 583 APC "Lung Neoplasm" MONDO_0002732 "Disgenet " 583 APC "Malignant neoplasm of large intestine" MONDO_0005575 "Disgenet " 583 APC "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 583 APC "Cancer, Breast" MONDO_0007254 "Disgenet " 583 APC "adenoma of large intestine" MONDO_0005484 "Disgenet " 583 APC "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 583 APC "Colonic adenocarcinoma" MONDO_0005401 "Disgenet " 583 APC "Liver Neoplasm" MONDO_0002691 "Disgenet " 583 APC "Polyposis Of Gastric Fundus Without Polyposis Coli" MONDO_0017790 "Disgenet " 583 APC "Intestinal Polyp" MONDO_0005288 "Disgenet " 583 APC "Gardner's syndrome" MONDO_0019336 "Disgenet " 583 APC "Cancer, Ovarian" MONDO_0008170 "Disgenet " 583 APC "Abdominal fibromatosis" "Disgenet " 583 APC "Malignant neoplasm of gallbladder" MONDO_0005411 "Disgenet " 583 APC "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 583 APC Schizophrenias MONDO_0005090 "Disgenet " 583 APC "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 583 APC "Neoplasm, Rectal" MONDO_0002165 "Disgenet " 583 APC Mesothelioma MONDO_0005065 "Disgenet " 583 APC Glioblastoma MONDO_0018177 "Disgenet " 583 APC "Intrahepatic bile duct carcinoma" MONDO_0003210 "Disgenet " 583 APC Adenoma MONDO_0004972 "Disgenet " 583 APC "Liver cell carcinoma" MONDO_0007256 "Disgenet " 583 APC Medulloblastoma MONDO_0007959 "Disgenet " 583 APC "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 583 APC "Aggressive fibromatosis" MONDO_0007608 "Disgenet " 583 APC "Adenomatous Polyposis Coli" MONDO_0021056 "Disgenet " 583 APC "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 583 APC "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 583 APC "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 583 APC "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 583 APC "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 583 APC "Gastrointestinal Neoplasm" MONDO_0002516 "Disgenet " 583 APC Hyperlipemias MONDO_0021187 "Disgenet " 583 APC "Gallbladder Neoplasm" MONDO_0005411 "Disgenet " 583 APC "Unspecified mental retardation" MONDO_0001071 "Disgenet " 584 APCS "Cancer, Breast" MONDO_0007254 "Disgenet " 584 APCS "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 584 APCS Amyloidoses MONDO_0019065 "Disgenet " 5870 IGLL1 "agammaglobulinemia 2, autosomal recessive" MONDO:0013287 "ClinGen " 5870 IGLL1 "AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE" MONDO_0013287 "Disgenet " 589 ATG5 "spinocerebellar ataxia, autosomal recessive 25" MONDO:0033115 "ClinGen " 589 ATG5 CRC MONDO_0005335 "Disgenet " 589 ATG5 Anemia MONDO_0002280 "Disgenet " 589 ATG5 SCAR25 MONDO_0033115 "Disgenet " 589 ATG5 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 59 ABCC8 "DEND (developmental delay, epilepsy, neonatal diabetes) syndrome" MONDO_0019207 "Disgenet " 59 ABCC8 "HYPOGLYCEMIA NEONATAL" "Disgenet " 59 ABCC8 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 59 ABCC8 "monogenic diabetes" MONDO:0015967 "ClinGen " 59 ABCC8 "pulmonary arterial hypertension" MONDO:0015924 "ClinGen " 59 ABCC8 Hypoglycemia MONDO_0004946 "Disgenet " 59 ABCC8 "Transitory neonatal diabetes mellitus" MONDO_0011073 "Disgenet " 59 ABCC8 Hyperinsulinism MONDO_0002177 "Disgenet " 59 ABCC8 "Neonatal diabetes mellitus" MONDO_0020525 "Disgenet " 59 ABCC8 "Monogenic diabetes" MONDO_0015967 "Disgenet " 59 ABCC8 "HYPOGLYCEMIA, LEUCINE-INDUCED" MONDO_0009415 "Disgenet " 59 ABCC8 "Pulmonary arterial hypertension" MONDO_0015924 "Disgenet " 59 ABCC8 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 59 ABCC8 PHHI MONDO_0019010 "Disgenet " 59 ABCC8 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 59 ABCC8 "Maturity onset diabetes mellitus in young" MONDO_0018911 "Disgenet " 59 ABCC8 "DIABETES MELLITUS, PERMANENT NEONATAL" MONDO_0100164 "Disgenet " 59 ABCC8 "HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1" MONDO_0005803 "Disgenet " 591 BIRC3 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 591 BIRC3 "adenocarcinoma of esophagus (diagnosis)" MONDO_0005028 "Disgenet " 591 BIRC3 Leukemias MONDO_0005059 "Disgenet " 591 BIRC3 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 591 BIRC3 CRC MONDO_0005335 "Disgenet " 591 BIRC3 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 591 BIRC3 "Familial primary gastric lymphoma" MONDO_0007650 "Disgenet " 591 BIRC3 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 591 BIRC3 "Lymphoma, MALT" MONDO_0007650 "Disgenet " 592 XIAP XLPD MONDO_0024551 "Disgenet " 592 XIAP "Disorder, Lymphoproliferative" MONDO_0011804 "Disgenet " 592 XIAP "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 592 XIAP "Disorder, X-Linked Lymphoproliferative" MONDO_0010385 "Disgenet " 592 XIAP "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 592 XIAP "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 592 XIAP "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 592 XIAP "LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2" MONDO_0010385 "Disgenet " 593 BIRC5 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 593 BIRC5 "Breast Neoplasms" MONDO_0021100 "Disgenet " 593 BIRC5 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 593 BIRC5 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 593 BIRC5 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 593 BIRC5 "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 593 BIRC5 "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 593 BIRC5 "human T cell leukemia" MONDO_0019471 "Disgenet " 593 BIRC5 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 593 BIRC5 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 593 BIRC5 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 593 BIRC5 "Lung Neoplasm" MONDO_0002732 "Disgenet " 593 BIRC5 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 593 BIRC5 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 593 BIRC5 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 593 BIRC5 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 593 BIRC5 Adenocarcinoma MONDO_0004970 "Disgenet " 593 BIRC5 "Transitional cell neoplasm (morphologic abnormality)" MONDO_0037254 "Disgenet " 593 BIRC5 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 593 BIRC5 "Cancer, Squamous Cell" MONDO_0002532 "Disgenet " 593 BIRC5 "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 5948 IGSF1 CHTE MONDO_0010475 "Disgenet " 5948 IGSF1 "X-linked central congenital hypothyroidism with late-onset macroorchidism" MONDO_0010475 "Disgenet " 5948 IGSF1 "Congenital hypothyroidism" MONDO_0010142 "Disgenet " 5951 CADM1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 5951 CADM1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 5951 CADM1 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 5951 CADM1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 5956 IHH "Brachydactyly type A1" MONDO_0007215 "Disgenet " 5956 IHH ACFD MONDO_0011907 "Disgenet " 5956 IHH Brachydactyly MONDO_0021004 "Disgenet " 5959 ELP1 Asthma MONDO_0004979 "Disgenet " 5959 ELP1 Medulloblastoma MONDO_0007959 "Disgenet " 5959 ELP1 "Dysautonomia, Familial" MONDO_0009131 "Disgenet " 5959 ELP1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 5960 IKBKB "Liver Neoplasm" MONDO_0002691 "Disgenet " 5960 IKBKB Dermatitides MONDO_0002406 "Disgenet " 5960 IKBKB "High blood pressure" MONDO_0005044 "Disgenet " 5960 IKBKB "Liver, unspecified" MONDO_0002691 "Disgenet " 5960 IKBKB IMD15A MONDO_0032599 "Disgenet " 5960 IKBKB "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 5960 IKBKB "Glucose Intolerance" MONDO_0001076 "Disgenet " 5960 IKBKB "Combined Immunodeficiencies, Severe" MONDO_0015974 "Disgenet " 5960 IKBKB "IMMUNODEFICIENCY 15B" MONDO_0014267 "Disgenet " 5960 IKBKB "severe combined immunodeficiency due to IKK2 deficiency" MONDO:0014267 "ClinGen " 5960 IKBKB "Cancer, Breast" MONDO_0007254 "Disgenet " 5960 IKBKB "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 5960 IKBKB "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 5961 IKBKG "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 5961 IKBKG "HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC" MONDO_0010293 "Disgenet " 5961 IKBKG "Ectodermal dysplasia, hypohidrotic, with immune deficiency" MONDO_0010293 "Disgenet " 5961 IKBKG "IMMUNODEFICIENCY 33" MONDO_0010386 "Disgenet " 5961 IKBKG "OL-EDA-ID (anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema) syndrome" MONDO_0010295 "Disgenet " 5961 IKBKG "Bloch Sulzberger Syndrome" MONDO_0010631 "Disgenet " 5961 IKBKG "IKBKG-related immunodeficiency with or without ectodermal dysplasia" MONDO:0100162 "ClinGen " 5961 IKBKG "incontinentia pigmenti" MONDO:0010631 "ClinGen " 5961 IKBKG "Liver Neoplasm" MONDO_0002691 "Disgenet " 5961 IKBKG "Liver, unspecified" MONDO_0002691 "Disgenet " 5962 IL10 "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome" MONDO:0016542 "ClinGen " 5962 IL10 "Dermatitis, Allergic Contact" MONDO_0006525 "Disgenet " 5962 IL10 Panuveitis MONDO_0017255 "Disgenet " 5962 IL10 "Aphthous Stomatitides" MONDO_0005318 "Disgenet " 5962 IL10 "Granulomatosis, Wegener" MONDO_0012105 "Disgenet " 5962 IL10 "Liver and Intrahepatic Bile Duct Carcinoma" MONDO_0018531 "Disgenet " 5962 IL10 Trachoma MONDO_0001249 "Disgenet " 5962 IL10 "human T cell leukemia" MONDO_0019471 "Disgenet " 5962 IL10 "Shock Syndrome, Toxic" MONDO_0001881 "Disgenet " 5962 IL10 "Childhood autism" MONDO_0005260 "Disgenet " 5962 IL10 "Glioma, malignant" MONDO_0100342 "Disgenet " 5962 IL10 "carcinoma of gallbladder (diagnosis)" MONDO_0003220 "Disgenet " 5962 IL10 "Head cold" MONDO_0005709 "Disgenet " 5962 IL10 "Autoimmune Hepatitides" MONDO_0016264 "Disgenet " 5962 IL10 Appendicitis MONDO_0005649 "Disgenet " 5962 IL10 "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 5962 IL10 "Otitis Media" MONDO_0005441 "Disgenet " 5962 IL10 "Acute pancreatitis" MONDO_0004982 "Disgenet " 5962 IL10 "Autoimmune Thrombocytopenic Purpuras" MONDO_0008558 "Disgenet " 5962 IL10 "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 5962 IL10 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 5962 IL10 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 5962 IL10 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 5962 IL10 Schizophrenias MONDO_0005090 "Disgenet " 5962 IL10 "Ulcerative colitis" MONDO_0005101 "Disgenet " 5962 IL10 "Disease, Graft-Versus-Host" MONDO_0013730 "Disgenet " 5962 IL10 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 5962 IL10 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 5962 IL10 "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 5962 IL10 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 5962 IL10 Asthma MONDO_0004979 "Disgenet " 5962 IL10 Sepsis MONDO_0005229 "Disgenet " 5962 IL10 Colitides MONDO_0005534 "Disgenet " 5962 IL10 "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 5962 IL10 "Behcet Syndrome" MONDO_0007191 "Disgenet " 5962 IL10 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 5962 IL10 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 5962 IL10 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 5962 IL10 Microglioma MONDO_0002571 "Disgenet " 5962 IL10 "Failure, Multiple Organ" MONDO_0043726 "Disgenet " 5962 IL10 "malignant squamous cell neoplasm of oral cavity (diagnosis)" MONDO_0004958 "Disgenet " 5962 IL10 Enterocolitides MONDO_0009172 "Disgenet " 5962 IL10 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 5962 IL10 "Skin Disease" MONDO_0005093 "Disgenet " 5962 IL10 Glomerulonephritides MONDO_0002462 "Disgenet " 5962 IL10 "Hemophilia A" MONDO_0010602 "Disgenet " 5962 IL10 "Brain Injuries" MONDO_0043510 "Disgenet " 5962 IL10 "Dysthyroid exophthalmos" MONDO_0018756 "Disgenet " 5962 IL10 Arterioscleroses MONDO_0002277 "Disgenet " 5962 IL10 Alcoholism MONDO_0002046 "Disgenet " 5962 IL10 "Atopic Eczema" MONDO_0011292 "Disgenet " 5962 IL10 Leishmaniases MONDO_0011989 "Disgenet " 5962 IL10 Thrombocytopenia MONDO_0002049 "Disgenet " 5962 IL10 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 5962 IL10 "Coronary Disease" MONDO_0005010 "Disgenet " 5962 IL10 Endometrioses MONDO_0005133 "Disgenet " 5962 IL10 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 5962 IL10 "Juvenile Periodontitides" MONDO_0008226 "Disgenet " 5962 IL10 "Hepatitis B" MONDO_0005344 "Disgenet " 5962 IL10 "Breast Neoplasms" MONDO_0021100 "Disgenet " 5962 IL10 "Acute kidney injury" MONDO_0002492 "Disgenet " 5962 IL10 "GRAVES DISEASE" MONDO_0005364 "Disgenet " 5962 IL10 "Irritable Bowel Syndrome" MONDO_0005052 "Disgenet " 5962 IL10 "Lung Neoplasm" MONDO_0002732 "Disgenet " 5962 IL10 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 5962 IL10 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 5962 IL10 "Alzheimer Disease" MONDO_0012630 "Disgenet " 5962 IL10 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 5962 IL10 "HIV infection" MONDO_0005109 "Disgenet " 5962 IL10 Psoriases MONDO_0005083 "Disgenet " 5962 IL10 "Kala Azar" MONDO_0005445 "Disgenet " 5962 IL10 "Multiple Myeloma" MONDO_0009693 "Disgenet " 5962 IL10 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 5962 IL10 "Hepatitis C" MONDO_0005231 "Disgenet " 5962 IL10 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 5962 IL10 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 5962 IL10 Gliomas MONDO_0021042 "Disgenet " 5962 IL10 Uveitides MONDO_0020283 "Disgenet " 5962 IL10 "Cutaneous Leishmaniases" MONDO_0005446 "Disgenet " 5962 IL10 "Sjogren's Syndrome" MONDO_0010030 "Disgenet " 5964 IL10RA "inflammatory bowel disease 28" MONDO:0013153 "ClinGen " 5964 IL10RA Schizophrenias MONDO_0005090 "Disgenet " 5964 IL10RA "INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE" MONDO_0013153 "Disgenet " 5965 IL10RB "Disease, Graft-Versus-Host" MONDO_0013730 "Disgenet " 5965 IL10RB "Hepatitis B" MONDO_0005344 "Disgenet " 5965 IL10RB "inflammatory bowel disease 25" MONDO:0012941 "ClinGen " 5965 IL10RB "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 5965 IL10RB "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 5966 IL11 "Diseases, Liver" MONDO_0005154 "Disgenet " 5967 IL11RA CRSDA MONDO_0013615 "Disgenet " 5967 IL11RA "craniosynostosis and dental anomalies" MONDO:0013615 "ClinGen " 5969 IL12A "Multiple Sclerosis" MONDO_0005301 "Disgenet " 5969 IL12A "primary biliary cirrhosis" MONDO_0005388 "Disgenet " 5969 IL12A "Sjogren's Syndrome" MONDO_0010030 "Disgenet " 5969 IL12A Gliomas MONDO_0021042 "Disgenet " 5969 IL12A "Liver Neoplasm" MONDO_0002691 "Disgenet " 5969 IL12A "Behcet Syndrome" MONDO_0007191 "Disgenet " 5969 IL12A "Liver cell carcinoma" MONDO_0007256 "Disgenet " 5969 IL12A "Hepatitis C" MONDO_0005231 "Disgenet " 5969 IL12A "Damage, Reperfusion" MONDO_0005203 "Disgenet " 5974 IL13RA1 Asthma MONDO_0004979 "Disgenet " 5975 IL13RA2 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 5975 IL13RA2 "Cancer, Breast" MONDO_0007254 "Disgenet " 5977 IL15 Endometrioses MONDO_0005133 "Disgenet " 5977 IL15 Asthma MONDO_0004979 "Disgenet " 5977 IL15 "Celiac Disease" MONDO_0005130 "Disgenet " 5977 IL15 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 5980 IL16 Asthma MONDO_0004979 "Disgenet " 5980 IL16 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 5980 IL16 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 5985 IL17RA "Candidiases, Chronic Mucocutaneous" MONDO_0015279 "Disgenet " 5985 IL17RA Psoriases MONDO_0005083 "Disgenet " 5986 IL18 "Respiratory Syncytial Virus Infections" MONDO_0001577 "Disgenet " 5986 IL18 Pneumonia MONDO_0005249 "Disgenet " 5986 IL18 "Biliary Atresia" MONDO_0008867 "Disgenet " 5986 IL18 Glomerulonephritides MONDO_0002462 "Disgenet " 5986 IL18 "Alopecia Areata" MONDO_0005340 "Disgenet " 5986 IL18 "Arteritides, Giant Cell" MONDO_0008538 "Disgenet " 5986 IL18 "Alcoholic Intoxication" "Disgenet " 5986 IL18 "Autoimmune Hepatitides" MONDO_0016264 "Disgenet " 5986 IL18 "Mouth Neoplasm" MONDO_0021245 "Disgenet " 5986 IL18 "Disease, Schaumann" MONDO_0008399 "Disgenet " 5986 IL18 Schizophrenias MONDO_0005090 "Disgenet " 5986 IL18 "ISCHEMIC ENCEPH" MONDO_0005299 "Disgenet " 5986 IL18 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 5986 IL18 "Syndrome X, Reaven" MONDO_0011565 "Disgenet " 5986 IL18 "Atopic Eczema" MONDO_0011292 "Disgenet " 5986 IL18 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 5986 IL18 "Diseases, Lung" MONDO_0005275 "Disgenet " 5986 IL18 Asthma MONDO_0004979 "Disgenet " 5986 IL18 Depression MONDO_0002050 "Disgenet " 5986 IL18 "Behcet Syndrome" MONDO_0007191 "Disgenet " 5986 IL18 "Depressive neurosis" MONDO_0002050 "Disgenet " 5986 IL18 "Hepatitis B" MONDO_0005344 "Disgenet " 5986 IL18 "Hepatitis C" MONDO_0005231 "Disgenet " 5986 IL18 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 5986 IL18 "Kawasaki's disease" MONDO_0012727 "Disgenet " 5986 IL18 "Cancer, Breast" MONDO_0007254 "Disgenet " 5988 IL18R1 "Behcet Syndrome" MONDO_0007191 "Disgenet " 5988 IL18R1 "Brain Injuries" MONDO_0043510 "Disgenet " 5988 IL18R1 Schizophrenias MONDO_0005090 "Disgenet " 5988 IL18R1 Asthma MONDO_0004979 "Disgenet " 5989 IL18RAP "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 5989 IL18RAP "Ulcerative colitis" MONDO_0005101 "Disgenet " 5992 IL1B "Kala Azar" MONDO_0005445 "Disgenet " 5992 IL1B "PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE" MONDO_0011462 "Disgenet " 5992 IL1B Thrombocytopenia MONDO_0002049 "Disgenet " 5992 IL1B "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 5992 IL1B Asthma MONDO_0004979 "Disgenet " 5992 IL1B "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 5992 IL1B Sepsis MONDO_0005229 "Disgenet " 5992 IL1B "Breast Neoplasms" MONDO_0021100 "Disgenet " 5992 IL1B "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 5992 IL1B "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 5992 IL1B "Alzheimer Disease" MONDO_0012630 "Disgenet " 5992 IL1B "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 5992 IL1B "Atrophic Gastritides" MONDO_0006665 "Disgenet " 5992 IL1B "Hemorrhages, Subarachnoid" MONDO_0005099 "Disgenet " 5992 IL1B "Arthritides, Gouty" MONDO_0005393 "Disgenet " 5992 IL1B "Cerebrovascular accident" MONDO_0005098 "Disgenet " 5992 IL1B "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 5992 IL1B "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 5992 IL1B "Atopic Eczema" MONDO_0011292 "Disgenet " 5992 IL1B "Depressive neurosis" MONDO_0002050 "Disgenet " 5992 IL1B "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 5992 IL1B Schizophrenias MONDO_0005090 "Disgenet " 5992 IL1B "Heart failure" MONDO_0005252 "Disgenet " 5992 IL1B "Cervical Neoplasm" MONDO_0021230 "Disgenet " 5992 IL1B "Bipolar Disorders" MONDO_0004985 "Disgenet " 5992 IL1B Glioblastoma MONDO_0018177 "Disgenet " 5992 IL1B Psoriases MONDO_0005083 "Disgenet " 5992 IL1B Endometrioses MONDO_0005133 "Disgenet " 5992 IL1B "Lung Neoplasm" MONDO_0002732 "Disgenet " 5992 IL1B Gout MONDO_0005393 "Disgenet " 5992 IL1B "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 5992 IL1B Anorexia "Disgenet " 5992 IL1B Uveitides MONDO_0020283 "Disgenet " 5992 IL1B "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 5992 IL1B Leukocytoses "Disgenet " 5992 IL1B "Gastroduodenal Ulcers" MONDO_0004247 "Disgenet " 5992 IL1B Lymphocytopenias MONDO_0003783 "Disgenet " 5992 IL1B "ISCHEMIC ENCEPH" MONDO_0005299 "Disgenet " 5992 IL1B "Gastric ulcer" MONDO_0001126 "Disgenet " 5992 IL1B "Eye Disease" MONDO_0032655 "Disgenet " 5992 IL1B Hyperemia "Disgenet " 5992 IL1B Thrombocytoses MONDO_0002249 "Disgenet " 5992 IL1B "Gassers Syndrome" MONDO_0001549 "Disgenet " 5992 IL1B Polymyositis MONDO_0019127 "Disgenet " 5992 IL1B "Cutaneous Leishmaniases" MONDO_0005446 "Disgenet " 5992 IL1B "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 5992 IL1B "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 5992 IL1B "Brain Injuries" MONDO_0043510 "Disgenet " 5992 IL1B "Diseases, Lung" MONDO_0005275 "Disgenet " 5992 IL1B Glomerulonephritides MONDO_0002462 "Disgenet " 5992 IL1B "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 5992 IL1B "Dry eye syndrome" MONDO_0006733 "Disgenet " 5992 IL1B "Bronchopulmonary Dysplasia" MONDO_0019091 "Disgenet " 5992 IL1B Keratoconus MONDO_0015486 "Disgenet " 5992 IL1B "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 5992 IL1B "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 5992 IL1B "Liver cell carcinoma" MONDO_0007256 "Disgenet " 5992 IL1B COPD MONDO_0005002 "Disgenet " 5992 IL1B "High blood pressure" MONDO_0005044 "Disgenet " 5992 IL1B "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 5992 IL1B Pneumonia MONDO_0005249 "Disgenet " 5992 IL1B Colitides MONDO_0005534 "Disgenet " 5992 IL1B "Multiple Myeloma" MONDO_0009693 "Disgenet " 5992 IL1B "Parkinson Disease" MONDO_0014796 "Disgenet " 5992 IL1B "Cancer, Breast" MONDO_0007254 "Disgenet " 5992 IL1B "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 5992 IL1B "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 5992 IL1B "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 5992 IL1B Depression MONDO_0002050 "Disgenet " 5992 IL1B "Acute Lung Injury" MONDO_0015796 "Disgenet " 5992 IL1B "Cystic Fibrosis" MONDO_0009061 "Disgenet " 5992 IL1B "Multiple Sclerosis" MONDO_0005301 "Disgenet " 5992 IL1B "Ulcerative colitis" MONDO_0005101 "Disgenet " 5992 IL1B Alcoholism MONDO_0002046 "Disgenet " 5992 IL1B "Depressions, Unipolar" MONDO_0002050 "Disgenet " 5992 IL1B "Skin Disease" MONDO_0005093 "Disgenet " 5992 IL1B "Damage, Reperfusion" MONDO_0005203 "Disgenet " 5992 IL1B "Bergers Disease" MONDO_0005342 "Disgenet " 5992 IL1B "Tuberculosis, Pulmonary" MONDO_0957462 "Disgenet " 5992 IL1B Neuroblastoma MONDO_0005072 "Disgenet " 5992 IL1B "GRAVES DISEASE" MONDO_0005364 "Disgenet " 5992 IL1B "Malignant neoplasm of cervix uteri" MONDO_0002974 "Disgenet " 5992 IL1B Silicoses MONDO_0005960 "Disgenet " 5992 IL1B "Congestive heart failure" MONDO_0005252 "Disgenet " 5992 IL1B "cardiac toxicity" "Disgenet " 5992 IL1B "Abuse, Marihuana" MONDO_0005689 "Disgenet " 5992 IL1B Adenocarcinoma MONDO_0004970 "Disgenet " 5992 IL1B Dermatomyositis MONDO_0016367 "Disgenet " 5992 IL1B "Dental Caries" MONDO_0005276 "Disgenet " 5992 IL1B "Fothergill's neuralgia" MONDO_0008599 "Disgenet " 5992 IL1B "Bone Losses, Perimenopausal" MONDO_0008159 "Disgenet " 5992 IL1B Cardiomyopathy MONDO_0004994 "Disgenet " 5992 IL1B Hypoglycemia MONDO_0004946 "Disgenet " 5992 IL1B "Essential hypertension" MONDO_0007781 "Disgenet " 5993 IL1R1 "Brain Injuries" MONDO_0043510 "Disgenet " 5993 IL1R1 "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 5993 IL1R1 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 5993 IL1R1 "Chronic multifocal osteomyelitis" MONDO_0958177 "Disgenet " 5993 IL1R1 Endometrioses MONDO_0005133 "Disgenet " 5993 IL1R1 Pneumonia MONDO_0005249 "Disgenet " 5993 IL1R1 "Skin Disease" MONDO_0005093 "Disgenet " 5994 IL1R2 "Diseases, Liver" MONDO_0005154 "Disgenet " 5994 IL1R2 "Lung Neoplasm" MONDO_0002732 "Disgenet " 5994 IL1R2 "Ankylosing spondylitis" MONDO_0005306 "Disgenet " 5994 IL1R2 "Ulcerative colitis" MONDO_0005101 "Disgenet " 5994 IL1R2 "Juvenile Periodontitides" MONDO_0008226 "Disgenet " 5994 IL1R2 Pneumonia MONDO_0005249 "Disgenet " 5996 IL1RAPL1 MRX21 MONDO_0010256 "Disgenet " 5996 IL1RAPL1 MRX1 MONDO_0010656 "Disgenet " 5996 IL1RAPL1 "non-syndromic X-linked intellectual disability" MONDO:0019181 "ClinGen " 5996 IL1RAPL1 "Childhood autism" MONDO_0005260 "Disgenet " 5996 IL1RAPL1 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 5996 IL1RAPL1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 5996 IL1RAPL1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 5998 IL1RL1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 5998 IL1RL1 "Acute Lung Injury" MONDO_0015796 "Disgenet " 5998 IL1RL1 "Coronary Disease" MONDO_0005010 "Disgenet " 5998 IL1RL1 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 5998 IL1RL1 Asthma MONDO_0004979 "Disgenet " 60 ABCC9 "Cantu syndrome" MONDO_0009406 "Disgenet " 60 ABCC9 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 60 ABCC9 CMD1A MONDO_0005021 "Disgenet " 60 ABCC9 "Patent ductus arteriosus" MONDO_0011827 "Disgenet " 60 ABCC9 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 60 ABCC9 "hypertrichotic osteochondrodysplasia Cantu type" MONDO:0009406 "ClinGen " 60 ABCC9 CMD1O MONDO_0012062 "Disgenet " 600 APOA1 Atherosclerosis MONDO_0005311 "Disgenet " 600 APOA1 "Coronary Disease" MONDO_0005010 "Disgenet " 600 APOA1 "High blood pressure" MONDO_0005044 "Disgenet " 600 APOA1 "apolipoprotein A-I deficiency (diagnosis)" "Disgenet " 600 APOA1 "AMYLOIDOSIS, FAMILIAL VISCERAL" MONDO_0007099 "Disgenet " 600 APOA1 Adenocarcinoma MONDO_0004970 "Disgenet " 600 APOA1 "Childhood obesity" "Disgenet " 600 APOA1 "Chronic renal disease" MONDO_0005300 "Disgenet " 600 APOA1 "Essential Hypercholesterolemia" MONDO_0005439 "Disgenet " 600 APOA1 "HIV infection" MONDO_0005109 "Disgenet " 600 APOA1 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 600 APOA1 "Cerebrovascular accident" MONDO_0005098 "Disgenet " 600 APOA1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 600 APOA1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 600 APOA1 "Apolipoprotein A-I amyloidosis" MONDO_0019731 "Disgenet " 600 APOA1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 600 APOA1 "Diabetic cardiomyopathy" "Disgenet " 600 APOA1 "Acute Lung Injury" MONDO_0015796 "Disgenet " 600 APOA1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 600 APOA1 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 600 APOA1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 600 APOA1 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 6000 IL1RN "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 6000 IL1RN Depression MONDO_0002050 "Disgenet " 6000 IL1RN "Cerebrovascular accident" MONDO_0005098 "Disgenet " 6000 IL1RN Asthma MONDO_0004979 "Disgenet " 6000 IL1RN "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 6000 IL1RN "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 6000 IL1RN Pneumonia MONDO_0005249 "Disgenet " 6000 IL1RN "Brain Injuries" MONDO_0043510 "Disgenet " 6000 IL1RN "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 6000 IL1RN "Multiple Myeloma" MONDO_0009693 "Disgenet " 6000 IL1RN "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 6000 IL1RN "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 6000 IL1RN Silicoses MONDO_0005960 "Disgenet " 6000 IL1RN Gout MONDO_0005393 "Disgenet " 6000 IL1RN Alcoholism MONDO_0002046 "Disgenet " 6000 IL1RN "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6000 IL1RN "Cardiovascular Disease" MONDO_0004995 "Disgenet " 6000 IL1RN "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6000 IL1RN "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 6000 IL1RN "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 6000 IL1RN "PANCREATITIS NECROTIZING" MONDO_0850420 "Disgenet " 6000 IL1RN DIRA MONDO_0013021 "Disgenet " 6000 IL1RN Melanoma MONDO_0005105 "Disgenet " 6000 IL1RN "Disease, Graft-Versus-Host" MONDO_0013730 "Disgenet " 6000 IL1RN "Attacks, Transient Ischemic" MONDO_0005264 "Disgenet " 6000 IL1RN "High blood pressure" MONDO_0005044 "Disgenet " 6000 IL1RN Periodontitides MONDO_0005593 "Disgenet " 6000 IL1RN COPD MONDO_0005002 "Disgenet " 6000 IL1RN "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 6000 IL1RN "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 6000 IL1RN "Bergers Disease" MONDO_0005342 "Disgenet " 6000 IL1RN "Multiple Sclerosis" MONDO_0005301 "Disgenet " 6000 IL1RN "Schnitzler Syndrome" MONDO_0018304 "Disgenet " 6000 IL1RN "Ulcerative colitis" MONDO_0005101 "Disgenet " 6000 IL1RN "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 6000 IL1RN "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 6000 IL1RN "Arthritides, Gouty" MONDO_0005393 "Disgenet " 6000 IL1RN "Skin Disease" MONDO_0005093 "Disgenet " 6000 IL1RN "Gassers Syndrome" MONDO_0001549 "Disgenet " 6000 IL1RN "Autoimmune Thrombocytopenic Purpuras" MONDO_0008558 "Disgenet " 6000 IL1RN "Tuberculosis, Pulmonary" MONDO_0957462 "Disgenet " 6000 IL1RN "Status Epilepticus" MONDO_0002125 "Disgenet " 6000 IL1RN "Bronchopulmonary Dysplasia" MONDO_0019091 "Disgenet " 6000 IL1RN Keratoconus MONDO_0015486 "Disgenet " 6000 IL1RN "Dysthyroid exophthalmos" MONDO_0018756 "Disgenet " 6000 IL1RN "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 6000 IL1RN "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 6000 IL1RN "Acute kidney injury" MONDO_0002492 "Disgenet " 6000 IL1RN Osteoporoses MONDO_0005298 "Disgenet " 6000 IL1RN "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 6000 IL1RN "Bipolar Disorders" MONDO_0004985 "Disgenet " 6000 IL1RN Nephropathy MONDO_0005240 "Disgenet " 6000 IL1RN "Autoinflammatory disease" MONDO_0019751 "Disgenet " 6000 IL1RN "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 6000 IL1RN "Alopecia Areata" MONDO_0005340 "Disgenet " 6000 IL1RN Delirium MONDO_0045057 "Disgenet " 6006 IL21R "Multiple Sclerosis" MONDO_0005301 "Disgenet " 6006 IL21R "Common Variable Immunodeficiency" MONDO_0015517 "Disgenet " 6006 IL21R "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 6006 IL21R "immunodeficiency disease" MONDO:0021094 "ClinGen " 6006 IL21R "IL21R IMMUNODEFICIENCY" MONDO_0014082 "Disgenet " 6006 IL21R "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 6008 IL2RA "HIV infection" MONDO_0005109 "Disgenet " 6008 IL2RA "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 6008 IL2RA "Multiple Sclerosis" MONDO_0005301 "Disgenet " 6008 IL2RA "immunodeficiency due to CD25 deficiency" MONDO:0011664 "ClinGen " 6008 IL2RA "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 6008 IL2RA "Alopecia Areata" MONDO_0005340 "Disgenet " 6008 IL2RA Schizophrenias MONDO_0005090 "Disgenet " 6008 IL2RA Lymphocytopenias MONDO_0003783 "Disgenet " 6008 IL2RA "Depressions, Unipolar" MONDO_0002050 "Disgenet " 6008 IL2RA "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 6008 IL2RA "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 6008 IL2RA "Interleukin 2 Receptor, Alpha, Deficiency of" MONDO_0011664 "Disgenet " 6009 IL2RB Asthma MONDO_0004979 "Disgenet " 6009 IL2RB IMD63 MONDO_0032782 "Disgenet " 6009 IL2RB "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 6009 IL2RB "immunodeficiency 63 with lymphoproliferation and autoimmunity" MONDO:0032782 "ClinGen " 6010 IL2RG "T-B+ severe combined immunodeficiency due to gamma chain deficiency" MONDO:0010315 "ClinGen " 6010 IL2RG "Combined Immunodeficiencies, Severe" MONDO_0015974 "Disgenet " 6010 IL2RG "Combined immunodeficiencies" MONDO_0015131 "Disgenet " 6010 IL2RG "OMENN SYNDROME" MONDO_0015974 "Disgenet " 6010 IL2RG "Immunodeficiency Disease, X-Linked" MONDO_0010730 "Disgenet " 6010 IL2RG "SCIDX1 - severe combined immunodeficiency X-linked" MONDO_0010315 "Disgenet " 6012 IL3RA Schizophrenias MONDO_0005090 "Disgenet " 6014 IL4 "Childhood autism" MONDO_0005260 "Disgenet " 6014 IL4 "Autoimmune Thrombocytopenic Purpuras" MONDO_0008558 "Disgenet " 6014 IL4 Rhinitides MONDO_0003014 "Disgenet " 6014 IL4 "GRAVES DISEASE" MONDO_0005364 "Disgenet " 6014 IL4 "Alzheimer Disease" MONDO_0012630 "Disgenet " 6014 IL4 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 6014 IL4 Psoriases MONDO_0005083 "Disgenet " 6014 IL4 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 6014 IL4 "Behcet Syndrome" MONDO_0007191 "Disgenet " 6014 IL4 "Cutaneous Leishmaniases" MONDO_0005446 "Disgenet " 6014 IL4 Colitides MONDO_0005534 "Disgenet " 6014 IL4 Schizophrenias MONDO_0005090 "Disgenet " 6014 IL4 "Hepatitis C" MONDO_0005231 "Disgenet " 6014 IL4 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 6014 IL4 Dermatitides MONDO_0002406 "Disgenet " 6014 IL4 Pneumonia MONDO_0005249 "Disgenet " 6014 IL4 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 6014 IL4 "Atopic Eczema" MONDO_0011292 "Disgenet " 6014 IL4 Asthma MONDO_0004979 "Disgenet " 6014 IL4 "Hepatitis B" MONDO_0005344 "Disgenet " 6014 IL4 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 6014 IL4 "Dermatitis, Allergic Contact" MONDO_0006525 "Disgenet " 6014 IL4 "human T cell leukemia" MONDO_0019471 "Disgenet " 6014 IL4 "Autoimmune Hepatitides" MONDO_0016264 "Disgenet " 6015 IL4R "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 6015 IL4R "Allergic Conjunctivitides" MONDO_0005642 "Disgenet " 6015 IL4R Eczema MONDO_0004980 "Disgenet " 6015 IL4R Rhinitides MONDO_0003014 "Disgenet " 6015 IL4R "Renal cell carcinoma" MONDO_0005549 "Disgenet " 6015 IL4R "Atopic Eczema" MONDO_0011292 "Disgenet " 6015 IL4R Asthma MONDO_0004979 "Disgenet " 6015 IL4R "Multiple Sclerosis" MONDO_0005301 "Disgenet " 6015 IL4R "Multiple Myeloma" MONDO_0009693 "Disgenet " 6017 IL5RA Asthma MONDO_0004979 "Disgenet " 6018 IL6 "Hashimoto's disease" MONDO_0007699 "Disgenet " 6018 IL6 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 6018 IL6 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 6018 IL6 "Dry eye syndrome" MONDO_0006733 "Disgenet " 6018 IL6 Uveitides MONDO_0020283 "Disgenet " 6018 IL6 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 6018 IL6 "Acute Lung Injury" MONDO_0015796 "Disgenet " 6018 IL6 "Prediabetic State" MONDO_0006920 "Disgenet " 6018 IL6 "Brain Injuries" MONDO_0043510 "Disgenet " 6018 IL6 "GRAVES DISEASE" MONDO_0005364 "Disgenet " 6018 IL6 "Cancer, Breast" MONDO_0007254 "Disgenet " 6018 IL6 "Congestive heart failure" MONDO_0005252 "Disgenet " 6018 IL6 Periodontitides MONDO_0005593 "Disgenet " 6018 IL6 "Disease, Periodontal" MONDO_0002635 "Disgenet " 6018 IL6 Hyperinsulinism MONDO_0002177 "Disgenet " 6018 IL6 "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 6018 IL6 "Acute kidney injury" MONDO_0002492 "Disgenet " 6018 IL6 "Heart failure" MONDO_0005252 "Disgenet " 6018 IL6 "Diabetes, Gestational" MONDO_0005406 "Disgenet " 6018 IL6 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 6018 IL6 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 6018 IL6 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 6018 IL6 Cholangiocarcinoma MONDO_0019087 "Disgenet " 6018 IL6 Asthma MONDO_0004979 "Disgenet " 6018 IL6 COPD MONDO_0005002 "Disgenet " 6018 IL6 "High blood pressure" MONDO_0005044 "Disgenet " 6018 IL6 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 6018 IL6 "Cerebrovascular accident" MONDO_0005098 "Disgenet " 6018 IL6 "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 6018 IL6 "Kaposi Sarcoma" MONDO_0005055 "Disgenet " 6018 IL6 Hyperglycemia MONDO_0002909 "Disgenet " 6018 IL6 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 6018 IL6 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 6018 IL6 Atherosclerosis MONDO_0005311 "Disgenet " 6018 IL6 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 6018 IL6 "Syndrome X, Reaven" MONDO_0011565 "Disgenet " 6018 IL6 "Depressive neurosis" MONDO_0002050 "Disgenet " 6018 IL6 Schizophrenias MONDO_0005090 "Disgenet " 6018 IL6 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6018 IL6 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 6018 IL6 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 6018 IL6 "Multiple Myeloma" MONDO_0009693 "Disgenet " 6018 IL6 "Lung Neoplasm" MONDO_0002732 "Disgenet " 6018 IL6 "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 6018 IL6 Obesity MONDO_0019182 "Disgenet " 6018 IL6 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 6018 IL6 "Breast Neoplasms" MONDO_0021100 "Disgenet " 6018 IL6 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 6018 IL6 Depression MONDO_0002050 "Disgenet " 6018 IL6 Sepsis MONDO_0005229 "Disgenet " 6018 IL6 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6018 IL6 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 6018 IL6 Keratitides MONDO_0003085 "Disgenet " 6018 IL6 "Otitis Media" MONDO_0005441 "Disgenet " 6018 IL6 "Skin Disease" MONDO_0005093 "Disgenet " 6018 IL6 Hypercalcemia MONDO_0001566 "Disgenet " 6018 IL6 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 6018 IL6 "Sjogren's Syndrome" MONDO_0010030 "Disgenet " 6018 IL6 Cardiomyopathy MONDO_0004994 "Disgenet " 6018 IL6 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 6018 IL6 "Hodgkin's granuloma" MONDO_0004952 "Disgenet " 6018 IL6 "Juvenile Periodontitides" MONDO_0008226 "Disgenet " 6018 IL6 "Acute Coronary Syndrome" MONDO_0005542 "Disgenet " 6018 IL6 Psoriases MONDO_0005083 "Disgenet " 6018 IL6 Colitides MONDO_0005534 "Disgenet " 6018 IL6 Delirium MONDO_0045057 "Disgenet " 6018 IL6 "Bipolar Disorders" MONDO_0004985 "Disgenet " 6018 IL6 "lung injury" "Disgenet " 6018 IL6 Osteoporoses MONDO_0005298 "Disgenet " 6018 IL6 "Childhood autism" MONDO_0005260 "Disgenet " 6018 IL6 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 6018 IL6 "Hemorrhages, Subarachnoid" MONDO_0005099 "Disgenet " 6018 IL6 "Hepatitis C" MONDO_0005231 "Disgenet " 6018 IL6 "Angiofollicular Lymphoid Hyperplasias" MONDO_0015564 "Disgenet " 6018 IL6 "Hepatitis B" MONDO_0005344 "Disgenet " 6018 IL6 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 6018 IL6 "Parkinson Disease" MONDO_0014796 "Disgenet " 6018 IL6 Pneumonia MONDO_0005249 "Disgenet " 6018 IL6 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 6018 IL6 "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 6018 IL6 "Bone Losses, Perimenopausal" MONDO_0008159 "Disgenet " 6018 IL6 "Degenerative disease of nervous system, unspecified" MONDO_0005559 "Disgenet " 6018 IL6 "Aneurysms, Intracranial" MONDO_0005291 "Disgenet " 6018 IL6 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 6018 IL6 "Celiac Disease" MONDO_0005130 "Disgenet " 6018 IL6 Myocarditides MONDO_0004496 "Disgenet " 6018 IL6 Alcoholism MONDO_0002046 "Disgenet " 6018 IL6 "Atopic Eczema" MONDO_0011292 "Disgenet " 6018 IL6 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 6018 IL6 "Chorea, Huntington" MONDO_0011671 "Disgenet " 6018 IL6 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 6018 IL6 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 6019 IL6R Asthma MONDO_0004979 "Disgenet " 6019 IL6R "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 6019 IL6R Depression MONDO_0002050 "Disgenet " 6019 IL6R "Renal cell carcinoma" MONDO_0005549 "Disgenet " 6019 IL6R "hyper-IgE recurrent infection syndrome 5, autosomal recessive" MONDO:0030069 "ClinGen " 6019 IL6R HIES5 MONDO_0030069 "Disgenet " 6019 IL6R Osteoporoses MONDO_0005298 "Disgenet " 6019 IL6R "Depressive neurosis" MONDO_0002050 "Disgenet " 6019 IL6R Schizophrenias MONDO_0005090 "Disgenet " 6019 IL6R "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 6019 IL6R "Alzheimer Disease" MONDO_0012630 "Disgenet " 6019 IL6R "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 6019 IL6R "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 6019 IL6R Obesity MONDO_0019182 "Disgenet " 602 APOA4 "autosomal dominant medullary cystic kidney disease with or without hyperuricemia" MONDO:0008264 "ClinGen " 602 APOA4 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 602 APOA4 Schizophrenias MONDO_0005090 "Disgenet " 602 APOA4 "Ulcerative colitis" MONDO_0005101 "Disgenet " 602 APOA4 Colitides MONDO_0005534 "Disgenet " 602 APOA4 "Alzheimer Disease" MONDO_0012630 "Disgenet " 602 APOA4 Atherosclerosis MONDO_0005311 "Disgenet " 6021 IL6ST CRC MONDO_0005335 "Disgenet " 6021 IL6ST Epithelioma MONDO_0004993 "Disgenet " 6021 IL6ST SJS2 MONDO_0031280 "Disgenet " 6021 IL6ST "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 6021 IL6ST "HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE" MONDO_0032796 "Disgenet " 6021 IL6ST "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 6021 IL6ST "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 6021 IL6ST "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6023 IL7 Obesity MONDO_0019182 "Disgenet " 6023 IL7 Lymphocytopenias MONDO_0003783 "Disgenet " 6023 IL7 "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 6023 IL7 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 6024 IL7R "Multiple Sclerosis" MONDO_0005301 "Disgenet " 6024 IL7R "Combined Immunodeficiencies, Severe" MONDO_0015974 "Disgenet " 6024 IL7R "immunodeficiency 104" MONDO:0012163 "ClinGen " 6024 IL7R "IMMUNODEFICIENCY 104" MONDO_0012163 "Disgenet " 6024 IL7R "primary biliary cirrhosis" MONDO_0005388 "Disgenet " 6024 IL7R "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 6024 IL7R "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 6024 IL7R "OMENN SYNDROME" MONDO_0015974 "Disgenet " 6024 IL7R "Leukemia, T Cell" MONDO_0004963 "Disgenet " 6024 IL7R "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 6024 IL7R "Breast Neoplasms" MONDO_0021100 "Disgenet " 6025 CXCL8 "Depressed mood" "Disgenet " 6025 CXCL8 "Respiratory Distress Syndrome, Adult" MONDO_0100130 "Disgenet " 6025 CXCL8 "carcinoma of stomach (diagnosis)" MONDO_0004950 "Disgenet " 6025 CXCL8 Delirium MONDO_0045057 "Disgenet " 6025 CXCL8 "Depressive neurosis" MONDO_0002050 "Disgenet " 6025 CXCL8 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 6025 CXCL8 Depression MONDO_0002050 "Disgenet " 6025 CXCL8 "Kala Azar" MONDO_0005445 "Disgenet " 6025 CXCL8 "Acute pyelonephritis" MONDO_0003529 "Disgenet " 6025 CXCL8 "Bipolar Disorders" MONDO_0004985 "Disgenet " 6025 CXCL8 "Urinary tract infection" MONDO_0100338 "Disgenet " 6025 CXCL8 Gastritides MONDO_0004966 "Disgenet " 6025 CXCL8 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6025 CXCL8 Leprosy MONDO_0005124 "Disgenet " 6025 CXCL8 "Alcoholic Intoxication" "Disgenet " 6025 CXCL8 Brucelloses MONDO_0005683 "Disgenet " 6026 CXCR1 "Urinary tract infection" MONDO_0100338 "Disgenet " 6029 IL9 "Respiratory Syncytial Virus Infections" MONDO_0001577 "Disgenet " 6029 IL9 Asthma MONDO_0004979 "Disgenet " 603 APOB "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 603 APOB "familial hypobetalipoproteinemia (diagnosis)" "Disgenet " 603 APOB "Autosomal Dominant Hypercholesterolemia" MONDO_0007750 "Disgenet " 603 APOB "Fatty Liver" MONDO_0004790 "Disgenet " 603 APOB "homozygous familial hypercholesterolemia (diagnosis)" MONDO_0018328 "Disgenet " 603 APOB Hyperlipoproteinemia MONDO_0001336 "Disgenet " 603 APOB "Malignant neoplasm of gallbladder" MONDO_0005411 "Disgenet " 603 APOB "Gallbladder Neoplasm" MONDO_0005411 "Disgenet " 603 APOB Arterioscleroses MONDO_0002277 "Disgenet " 603 APOB CRC MONDO_0005335 "Disgenet " 603 APOB "Anemia, Sickle Cell" MONDO_0011382 "Disgenet " 603 APOB "Cancer, Ovarian" MONDO_0008170 "Disgenet " 603 APOB "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 603 APOB "hypercholesterolemia, autosomal dominant, type B" MONDO:0007751 "ClinGen " 603 APOB "familial hypobetalipoproteinemia 1" MONDO:0014252 "ClinGen " 603 APOB "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 603 APOB "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 603 APOB "Coronary Disease" MONDO_0005010 "Disgenet " 603 APOB Dyslipidaemia "Disgenet " 603 APOB "Apolipoprotein B 100, Familial Ligand Defective" MONDO_0007751 "Disgenet " 603 APOB Hypercholesteremias "Disgenet " 603 APOB hypobetalipoproteinemia MONDO_0017774 "Disgenet " 603 APOB Hypertriglyceridemia MONDO_0005347 "Disgenet " 603 APOB "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 603 APOB Hyperlipemias MONDO_0021187 "Disgenet " 603 APOB "Essential Hypercholesterolemia" MONDO_0005439 "Disgenet " 603 APOB "Cardiovascular Disease" MONDO_0004995 "Disgenet " 603 APOB "HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1" MONDO_0014252 "Disgenet " 603 APOB "Celiac Disease" MONDO_0005130 "Disgenet " 6040 ILK "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 6040 ILK "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 6040 ILK "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 6050 IMPA1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 6051 IMPA2 Schizophrenias MONDO_0005090 "Disgenet " 6051 IMPA2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 6051 IMPA2 "Febrile convulsion" "Disgenet " 6051 IMPA2 "Affective Disorders" MONDO_0005371 "Disgenet " 6052 IMPDH1 "IMPDH1-related retinopathy" MONDO:1040051 "ClinGen " 6052 IMPDH1 RP10 MONDO_0008379 "Disgenet " 6052 IMPDH1 "LEBER CONGENITAL AMAUROSIS 11" MONDO_0013454 "Disgenet " 6052 IMPDH1 "Leber congenital amaurosis" MONDO_0018998 "Disgenet " 6052 IMPDH1 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 6062 ING1 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 6062 ING1 "malignant squamous cell neoplasm of oral cavity (diagnosis)" MONDO_0004958 "Disgenet " 6062 ING1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 6062 ING1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 6062 ING1 "Cancer, Squamous Cell" MONDO_0002532 "Disgenet " 6065 INHA "CARCINOMA OF PROSTATE" MONDO_0005159 "Disgenet " 6066 INHBA "Fibroid Tumor" MONDO_0001572 "Disgenet " 6066 INHBA "Liver Failure, Acute" MONDO_0019542 "Disgenet " 6069 INMT "Liver cell carcinoma" MONDO_0007256 "Disgenet " 607 APOC1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 607 APOC1 Obesity MONDO_0019182 "Disgenet " 6071 INPP1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 6074 INPP4A "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 6075 INPP4B "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 6075 INPP4B "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 6079 INPP5D "Alzheimer Disease" MONDO_0012630 "Disgenet " 6080 INPPL1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 6080 INPPL1 "Syndrome X, Reaven" MONDO_0011565 "Disgenet " 6080 INPPL1 OPSISMODYSPLASIA MONDO_0009785 "Disgenet " 6080 INPPL1 "High blood pressure" MONDO_0005044 "Disgenet " 6080 INPPL1 Obesity MONDO_0019182 "Disgenet " 6086 INSL3 "Undescended testicle, bilateral" MONDO_0009047 "Disgenet " 6086 INSL3 Cryptorchism MONDO_0009047 "Disgenet " 609 APOC2 Hyperchylomicronemia MONDO_0009387 "Disgenet " 609 APOC2 "familial apolipoprotein C-II deficiency (diagnosis)" MONDO_0008810 "Disgenet " 609 APOC2 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 609 APOC2 "Apolipoprotein C II Deficiency" MONDO_0008810 "Disgenet " 609 APOC2 Hyperlipoproteinemia MONDO_0001336 "Disgenet " 609 APOC2 Hyperlipemias MONDO_0021187 "Disgenet " 6090 INSM1 "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 6091 INSR "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 6091 INSR "Diabetes Mellitus" MONDO_0005015 "Disgenet " 6091 INSR Hyperinsulinism MONDO_0002177 "Disgenet " 6091 INSR "DONOHUE SYNDROME" MONDO_0009517 "Disgenet " 6091 INSR "PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES" MONDO_0009517 "Disgenet " 6091 INSR "Insulin-resistant diabetes mellitus" "Disgenet " 6091 INSR "Diabetes, Gestational" MONDO_0005406 "Disgenet " 6091 INSR Hyperglycemia MONDO_0002909 "Disgenet " 6091 INSR "Alzheimer Disease" MONDO_0012630 "Disgenet " 6091 INSR "Glucose Intolerance" MONDO_0001076 "Disgenet " 6091 INSR HHF5 MONDO_0012381 "Disgenet " 6091 INSR "Insulin Resistant Diabetes Mellitus with Acanthosis Nigricans and Hyperandrogenism" MONDO_0012520 "Disgenet " 6091 INSR "Diabetic Neuropathies" MONDO_0006626 "Disgenet " 6091 INSR "Monogenic diabetes" MONDO_0015967 "Disgenet " 6091 INSR "Parkinson Disease" MONDO_0014796 "Disgenet " 61 ABCD1 Adrenoleukodystrophy MONDO_0018544 "Disgenet " 61 ABCD1 AMN MONDO_0015339 "Disgenet " 61 ABCD1 "Addisons Disease" MONDO_0100480 "Disgenet " 61 ABCD1 adrenoleukodystrophy MONDO:0018544 "ClinGen " 61 ABCD1 "Paraplegias, Spastic" MONDO_0003757 "Disgenet " 6106 FOXP3 "Tuberculosis, Pulmonary" MONDO_0957462 "Disgenet " 6106 FOXP3 "lung injury" "Disgenet " 6106 FOXP3 "Bipolar Disorders" MONDO_0004985 "Disgenet " 6106 FOXP3 XLAAD MONDO_0010580 "Disgenet " 6106 FOXP3 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 6106 FOXP3 "Ovary Syndrome, Polycystic" MONDO_0008487 "Disgenet " 6106 FOXP3 "Lung Neoplasm" MONDO_0002732 "Disgenet " 6106 FOXP3 "Breast Neoplasms" MONDO_0021100 "Disgenet " 6106 FOXP3 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 6106 FOXP3 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 6106 FOXP3 Asthma MONDO_0004979 "Disgenet " 6106 FOXP3 "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome" MONDO:0010580 "ClinGen " 6106 FOXP3 "Hydrops Fetalis" MONDO_0015193 "Disgenet " 6106 FOXP3 "human T cell leukemia" MONDO_0019471 "Disgenet " 6106 FOXP3 Anemia MONDO_0002280 "Disgenet " 6107 PDX1 PAGEN1 MONDO_0009832 "Disgenet " 6107 PDX1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 6107 PDX1 "DIABETES MELLITUS, PERMANENT NEONATAL" MONDO_0100164 "Disgenet " 6107 PDX1 "hypoplasia of pancreas (diagnosis)" "Disgenet " 6107 PDX1 "Monogenic diabetes" MONDO_0015967 "Disgenet " 6107 PDX1 "Maturity onset diabetes mellitus in young" MONDO_0018911 "Disgenet " 6107 PDX1 Hyperglycemia MONDO_0002909 "Disgenet " 6107 PDX1 MODY4 MONDO_0011667 "Disgenet " 6107 PDX1 "Neonatal diabetes mellitus" MONDO_0020525 "Disgenet " 6107 PDX1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 6107 PDX1 "monogenic diabetes" MONDO:0015967 "ClinGen " 6107 PDX1 "pancreatic agenesis 1" MONDO:0024547 "ClinGen " 6110 IQGAP1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6111 IQGAP2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6112 IRAK1 "Ankylosing spondylitis" MONDO_0005306 "Disgenet " 6112 IRAK1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 6112 IRAK1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 6112 IRAK1 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 6115 IREB2 "Alzheimer Disease" MONDO_0012630 "Disgenet " 6116 IRF1 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 6116 IRF1 "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 6116 IRF1 Asthma MONDO_0004979 "Disgenet " 6116 IRF1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 6116 IRF1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 6116 IRF1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 6117 IRF2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6119 IRF4 "Lymphoma, Peripheral T-Cell" MONDO_0004964 "Disgenet " 6119 IRF4 "combined immunodeficiency" MONDO:0015131 "ClinGen " 6119 IRF4 "Combined immunodeficiencies" MONDO_0015131 "Disgenet " 6119 IRF4 "Lung Neoplasm" MONDO_0002732 "Disgenet " 6119 IRF4 "human T cell leukemia" MONDO_0019471 "Disgenet " 6119 IRF4 "Ki 1 Lymphoma" MONDO_0020325 "Disgenet " 6119 IRF4 "Multiple Myeloma" MONDO_0009693 "Disgenet " 6119 IRF4 "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 612 APOD Gliomas MONDO_0021042 "Disgenet " 612 APOD "Bipolar Disorders" MONDO_0004985 "Disgenet " 612 APOD "Degenerative disease of nervous system, unspecified" MONDO_0005559 "Disgenet " 612 APOD Schizophrenias MONDO_0005090 "Disgenet " 612 APOD "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 612 APOD Obesity MONDO_0019182 "Disgenet " 6120 IRF5 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 6120 IRF5 "Ulcerative colitis" MONDO_0005101 "Disgenet " 6120 IRF5 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 6120 IRF5 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 6120 IRF5 "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 6121 IRF6 "Cleft lip, isolated" MONDO_0016043 "Disgenet " 6121 IRF6 "Cleft Palate" MONDO_0016064 "Disgenet " 6121 IRF6 "Cleft Lip" MONDO_0004747 "Disgenet " 6121 IRF6 PPS MONDO_0017435 "Disgenet " 6121 IRF6 PIT MONDO_0019508 "Disgenet " 6121 IRF6 "Cleft hard palate with cleft soft palate" MONDO_0007336 "Disgenet " 6121 IRF6 "Cleft palate with cleft lip" MONDO_0016044 "Disgenet " 6122 IRF7 Flu MONDO_0005812 "Disgenet " 6122 IRF7 "IMMUNODEFICIENCY 39" MONDO_0014597 "Disgenet " 6125 IRS1 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 6125 IRS1 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 6125 IRS1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6125 IRS1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 6125 IRS1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 6125 IRS1 "Coronary Disease" MONDO_0005010 "Disgenet " 6125 IRS1 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 6125 IRS1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 6125 IRS1 Obesity MONDO_0019182 "Disgenet " 6125 IRS1 Hyperinsulinism MONDO_0002177 "Disgenet " 6125 IRS1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6125 IRS1 "UTERUS FIBROMA" MONDO_0007886 "Disgenet " 6126 IRS2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 6126 IRS2 Hyperglycemia MONDO_0002909 "Disgenet " 6126 IRS2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6126 IRS2 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 613 APOE Retinopathy MONDO_0005283 "Disgenet " 613 APOE Arterioscleroses MONDO_0002277 "Disgenet " 613 APOE "CARCINOMA OF LUNG" MONDO_0005138 "Disgenet " 613 APOE "Exfoliation Syndrome" MONDO_0100046 "Disgenet " 613 APOE "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 613 APOE "Normal tension glaucoma" MONDO_0006837 "Disgenet " 613 APOE "Infection, Plasmodium" MONDO_0005136 "Disgenet " 613 APOE Psoriases MONDO_0005083 "Disgenet " 613 APOE "Anxiety Disorder" MONDO_0005618 "Disgenet " 613 APOE Amyloidoses MONDO_0019065 "Disgenet " 613 APOE "Bipolar Disorders" MONDO_0004985 "Disgenet " 613 APOE Adenocarcinoma MONDO_0004970 "Disgenet " 613 APOE Alcoholism MONDO_0002046 "Disgenet " 613 APOE "Artery Stenoses, Carotid" MONDO_0001612 "Disgenet " 613 APOE "Artery Disease, Carotid" MONDO_0005269 "Disgenet " 613 APOE "MS RELAPSING REMITTING" MONDO_0005314 "Disgenet " 613 APOE Hyperlipoproteinemia MONDO_0001336 "Disgenet " 613 APOE "Hyperlipoproteinemia Type III" MONDO_0018473 "Disgenet " 613 APOE Dyslipidaemia "Disgenet " 613 APOE "High blood pressure" MONDO_0005044 "Disgenet " 613 APOE Obesity MONDO_0019182 "Disgenet " 613 APOE Hypercholesteremias "Disgenet " 613 APOE "Coronary Disease" MONDO_0005010 "Disgenet " 613 APOE "Diabetes Mellitus" MONDO_0005015 "Disgenet " 613 APOE "Cardiovascular Disease" MONDO_0004995 "Disgenet " 613 APOE "Alzheimer Disease" MONDO_0012630 "Disgenet " 613 APOE LPG MONDO_0012725 "Disgenet " 613 APOE Atherosclerosis MONDO_0005311 "Disgenet " 613 APOE "Pigmentary glaucoma" MONDO_0005338 "Disgenet " 613 APOE Hyperuricemia "Disgenet " 613 APOE "Lung Neoplasm" MONDO_0002732 "Disgenet " 613 APOE "Congestive heart failure" MONDO_0005252 "Disgenet " 613 APOE "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 613 APOE "KIDNEY FAILURE" MONDO_0001106 "Disgenet " 613 APOE "EMD - Exudative macular degeneration" MONDO_0005417 "Disgenet " 613 APOE "Degeneration, Progressive Lenticular" MONDO_0010200 "Disgenet " 613 APOE "Abuse, Alcohol" MONDO_0002046 "Disgenet " 613 APOE "Angle Closure Glaucoma" MONDO_0001744 "Disgenet " 613 APOE "Histiocyte Syndrome, Sea-Blue" MONDO_0010017 "Disgenet " 613 APOE "Herpes Simplex" MONDO_0004609 "Disgenet " 613 APOE "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 613 APOE "Fatty Liver" MONDO_0004790 "Disgenet " 613 APOE "Cerebral Infarction" MONDO_0002679 "Disgenet " 613 APOE "Cancer, Breast" MONDO_0007254 "Disgenet " 613 APOE Delirium MONDO_0045057 "Disgenet " 613 APOE "Cerebrovascular Disorders" MONDO_0011057 "Disgenet " 613 APOE "Multiple Sclerosis" MONDO_0005301 "Disgenet " 613 APOE "Combined Hyperlipidemia, Familial" MONDO_0007759 "Disgenet " 613 APOE "Primary open-angle glaucoma" MONDO_0100553 "Disgenet " 613 APOE "Degeneration, Macular" MONDO_0003004 "Disgenet " 613 APOE "Heart failure" MONDO_0005252 "Disgenet " 613 APOE "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 613 APOE Schizophrenias MONDO_0005090 "Disgenet " 613 APOE "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 613 APOE "ALZHEIMER DISEASE 2" MONDO_0007089 "Disgenet " 613 APOE "Aortic Aneurysm, Abdominal" MONDO_0005350 "Disgenet " 613 APOE "Essential Hypercholesterolemia" MONDO_0005439 "Disgenet " 613 APOE "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 613 APOE Hyperlipemias MONDO_0021187 "Disgenet " 613 APOE "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 6132 ISL1 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 6132 ISL1 "congenital heart disease" MONDO:0005453 "ClinGen " 6132 ISL1 "Bladder Exstrophies" MONDO_0010805 "Disgenet " 6132 ISL1 "Atrial septal defect" MONDO_0006664 "Disgenet " 6132 ISL1 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 6132 ISL1 Neuroblastoma MONDO_0005072 "Disgenet " 6132 ISL1 "Ventricular septal defect" MONDO_0002070 "Disgenet " 6132 ISL1 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 6132 ISL1 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 6132 ISL1 "Double Outlet Right Ventricle" MONDO_0018089 "Disgenet " 6132 ISL1 "congenital heart disorder" MONDO_0005453 "Disgenet " 6132 ISL1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 6134 ITGA1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 6137 ITGA2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 6137 ITGA2 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 6137 ITGA2 Thrombocytopenia MONDO_0002049 "Disgenet " 6137 ITGA2 "Angina, Unstable" MONDO_0006805 "Disgenet " 6137 ITGA2 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 6137 ITGA2 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 6137 ITGA2 "Occlusion, Retinal Vein" MONDO_0006951 "Disgenet " 6138 ITGA2B "platelet-type bleeding disorder 16" MONDO:0008552 "ClinGen " 6138 ITGA2B "Glanzmann thrombasthenia" MONDO:0100326 "ClinGen " 6138 ITGA2B "Autosomal dominant macrothrombocytopenia (disorder)" MONDO_0015372 "Disgenet " 6138 ITGA2B Macrothrombocytopenia "Disgenet " 6138 ITGA2B "BLEEDING DISORDER, PLATELET-TYPE, 16" MONDO_0008552 "Disgenet " 6138 ITGA2B "Cerebrovascular accident" MONDO_0005098 "Disgenet " 6138 ITGA2B Thrombasthenia MONDO_0014386 "Disgenet " 6138 ITGA2B Thrombocytopenia MONDO_0002049 "Disgenet " 6139 ITGA3 ILNEB MONDO_0013881 "Disgenet " 6139 ITGA3 "epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome" MONDO:0013881 "ClinGen " 6139 ITGA3 "Epidermolysis Bullosa, Junctional" MONDO_0017612 "Disgenet " 6139 ITGA3 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 6140 ITGA4 "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 6140 ITGA4 "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 6140 ITGA4 "Childhood autism" MONDO_0005260 "Disgenet " 6141 ITGA5 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 6141 ITGA5 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 6142 ITGA6 "Epidermolysis Bullosa, Junctional" MONDO_0017612 "Disgenet " 6142 ITGA6 "Epidermolysis bullosa with pyloric atresia" MONDO_0009183 "Disgenet " 6143 ITGA7 Myopathy MONDO_0003939 "Disgenet " 6143 ITGA7 "MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY" MONDO_0013177 "Disgenet " 6143 ITGA7 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 6143 ITGA7 "Congenital myopathies" MONDO_0013177 "Disgenet " 6143 ITGA7 "Muscular Dystrophy, Duchenne" MONDO_0010679 "Disgenet " 6144 ITGA8 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 6144 ITGA8 HRA MONDO_0018470 "Disgenet " 6144 ITGA8 "Renal agenesis, bilateral" MONDO_0015986 "Disgenet " 6145 ITGA9 "Cancer, Breast" MONDO_0007254 "Disgenet " 6145 ITGA9 "High blood pressure" MONDO_0005044 "Disgenet " 6148 ITGAL "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 6148 ITGAL "Behcet Syndrome" MONDO_0007191 "Disgenet " 6148 ITGAL "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 6149 ITGAM Schizophrenias MONDO_0005090 "Disgenet " 6149 ITGAM "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 6149 ITGAM Hyperglycemia MONDO_0002909 "Disgenet " 6149 ITGAM "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 6149 ITGAM "Glomerulonephritides, Lupus" MONDO_0005556 "Disgenet " 6149 ITGAM Obesity MONDO_0019182 "Disgenet " 6152 ITGAX "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 6153 ITGB1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 6153 ITGB1 Endometrioses MONDO_0005133 "Disgenet " 6153 ITGB1 Cardiomyopathy MONDO_0004994 "Disgenet " 6153 ITGB1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 6155 ITGB2 "Behcet Syndrome" MONDO_0007191 "Disgenet " 6155 ITGB2 "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 6155 ITGB2 LAD3 MONDO_0013016 "Disgenet " 6155 ITGB2 LAD MONDO_0007293 "Disgenet " 6155 ITGB2 "Congenital leukocyte adherence deficiency" MONDO_0017570 "Disgenet " 6155 ITGB2 Pneumonia MONDO_0005249 "Disgenet " 6155 ITGB2 "Deficiency Syndrome, Leukocyte Adhesion" MONDO_0017570 "Disgenet " 6156 ITGB3 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 6156 ITGB3 Thrombocytopenia MONDO_0002049 "Disgenet " 6156 ITGB3 "Blood Platelet Disorder" MONDO_0002245 "Disgenet " 6156 ITGB3 Macrothrombocytopenia "Disgenet " 6156 ITGB3 "Coronary Thromboses" MONDO_0005068 "Disgenet " 6156 ITGB3 "Acute Coronary Syndrome" MONDO_0005542 "Disgenet " 6156 ITGB3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6156 ITGB3 "Glanzmann thrombasthenia" MONDO:0100326 "ClinGen " 6156 ITGB3 "BLEEDING DISORDER, PLATELET-TYPE, 16" MONDO_0008552 "Disgenet " 6156 ITGB3 "Thrombocytopenia, Neonatal" MONDO_0024277 "Disgenet " 6156 ITGB3 Asthma MONDO_0004979 "Disgenet " 6156 ITGB3 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 6156 ITGB3 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 6156 ITGB3 "Autoimmune Thrombocytopenic Purpuras" MONDO_0008558 "Disgenet " 6156 ITGB3 Thrombasthenia MONDO_0014386 "Disgenet " 6156 ITGB3 "Autosomal dominant macrothrombocytopenia (disorder)" MONDO_0015372 "Disgenet " 6156 ITGB3 "Childhood autism" MONDO_0005260 "Disgenet " 6156 ITGB3 "Cerebrovascular accident" MONDO_0005098 "Disgenet " 6158 ITGB4 "PYLORIC ATRESIA" MONDO_0009944 "Disgenet " 6158 ITGB4 "Epidermolysis Bullosa" MONDO_0006541 "Disgenet " 6158 ITGB4 "Aplasia cutis congenita" MONDO_0019287 "Disgenet " 6158 ITGB4 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 6158 ITGB4 "Ebs With Pyloric Atresia" MONDO_0012807 "Disgenet " 6158 ITGB4 "Epidermolysis Bullosa, Junctional" MONDO_0017612 "Disgenet " 6158 ITGB4 "Epidermolysis bullosa with pyloric atresia" MONDO_0009183 "Disgenet " 6158 ITGB4 "EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA" MONDO_0009183 "Disgenet " 6159 EIF6 "HIV infection" MONDO_0005109 "Disgenet " 6159 EIF6 "Breast Neoplasms" MONDO_0021100 "Disgenet " 616 APOH "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 616 APOH Schizophrenias MONDO_0005090 "Disgenet " 616 APOH "Anti Phospholipid Syndrome" MONDO_8000010 "Disgenet " 6161 ITGB6 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 6161 ITGB6 "AMELOGENESIS IMPERFECTA, TYPE IH" MONDO_0014540 "Disgenet " 6161 ITGB6 "Amelogenesis Imperfecta" MONDO_0007092 "Disgenet " 6168 ITIH3 Schizophrenias MONDO_0005090 "Disgenet " 6168 ITIH3 "Bipolar Disorders" MONDO_0004985 "Disgenet " 6169 ITIH4 "Bipolar Disorders" MONDO_0004985 "Disgenet " 6171 ITK "lymphoproliferative syndrome 1" MONDO:0013081 "ClinGen " 6171 ITK LPFS1 MONDO_0013081 "Disgenet " 6171 ITK "Disorder, Lymphoproliferative" MONDO_0011804 "Disgenet " 6174 ITM2B FDD MONDO_0007297 "Disgenet " 6174 ITM2B FBD MONDO_0008306 "Disgenet " 6176 ITPA Anemia MONDO_0002280 "Disgenet " 6176 ITPA "Anemia, Hemolytic" MONDO_0003664 "Disgenet " 6176 ITPA Thrombocytopenia MONDO_0002049 "Disgenet " 6176 ITPA "Hepatitis C" MONDO_0005231 "Disgenet " 6176 ITPA EIEE35 MONDO_0014719 "Disgenet " 6176 ITPA "developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 6176 ITPA ALL MONDO_0004967 "Disgenet " 6176 ITPA "INOSINE TRIPHOSPHATASE DEFICIENCY" MONDO_0013461 "Disgenet " 6176 ITPA "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 6179 ITPKB "ITPKB deficiency" MONDO:0800140 "ClinGen " 618 APOL1 "focal segmental glomerulosclerosis 4, susceptibility to" MONDO:0012931 "ClinGen " 618 APOL1 "Nephrotic syndrome, steroid-resistant" MONDO_0005377 "Disgenet " 618 APOL1 Glomerulonephritides MONDO_0002462 "Disgenet " 618 APOL1 "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 6180 ITPR1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 6180 ITPR1 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 6180 ITPR1 "aniridia-cerebellar ataxia-intellectual disability syndrome" MONDO:0008795 "ClinGen " 6180 ITPR1 "spinocerebellar ataxia type 29" MONDO:0007298 "ClinGen " 6180 ITPR1 "aniridia-cerebellar ataxia-intellectual disability syndrome" MONDO:0008795 "ClinGen " 6180 ITPR1 ACV MONDO_0007298 "Disgenet " 6180 ITPR1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6180 ITPR1 "Autosomal dominant cerebellar ataxia" MONDO_0020380 "Disgenet " 6180 ITPR1 ASMD MONDO_0019503 "Disgenet " 6180 ITPR1 "SPINOCEREBELLAR ATAXIA 15" MONDO_0011694 "Disgenet " 6180 ITPR1 "Gillespie syndrome" MONDO_0008795 "Disgenet " 6181 ITPR2 "ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS" MONDO_0007118 "Disgenet " 6181 ITPR2 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 6182 ITPR3 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 6183 ITSN1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 6184 ITSN2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 6186 IVD "isovaleric acidemia" MONDO_0009475 "Disgenet " 6186 IVD "isovaleric acidemia" MONDO:0009475 "ClinGen " 6188 JAG1 "Alagille syndrome due to a JAG1 point mutation" MONDO:0016862 "ClinGen " 6188 JAG1 ALGS1 MONDO_0007318 "Disgenet " 6188 JAG1 "Fallot Tetralogy" MONDO_0008542 "Disgenet " 6188 JAG1 "Alagille Syndrome" MONDO_0007318 "Disgenet " 6188 JAG1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 6188 JAG1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 6188 JAG1 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 6188 JAG1 "Hepatic ductular hypoplasia" MONDO_0007318 "Disgenet " 6188 JAG1 Glioblastoma MONDO_0018177 "Disgenet " 6189 JAG2 "autosomal recessive limb-girdle muscular dystrophy" MONDO:0015152 "ClinGen " 6189 JAG2 "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 619 APOL2 Schizophrenias MONDO_0005090 "Disgenet " 6190 JAK1 "autoinflammation, immune dysregulation, and eosinophilia" MONDO:0033558 "ClinGen " 6190 JAK1 "Leukemia, T Cell" MONDO_0004963 "Disgenet " 6190 JAK1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6190 JAK1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 6190 JAK1 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 6190 JAK1 Endometrium MONDO_0011962 "Disgenet " 6190 JAK1 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 6190 JAK1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 6190 JAK1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 6190 JAK1 BIA-ALCL MONDO_0850112 "Disgenet " 6190 JAK1 "Osler Vaquez Disease" MONDO_0009891 "Disgenet " 6190 JAK1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 6190 JAK1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6190 JAK1 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 6190 JAK1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 6190 JAK1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 6192 JAK2 "Hypertension, Portal" MONDO_0005080 "Disgenet " 6192 JAK2 "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 6192 JAK2 PFCP MONDO_0007572 "Disgenet " 6192 JAK2 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 6192 JAK2 "Myeloid neoplasia" MONDO_0005170 "Disgenet " 6192 JAK2 "Hepatic vein thrombosis" MONDO_0010947 "Disgenet " 6192 JAK2 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 6192 JAK2 "Idiopathic thrombocythemia" MONDO_0005029 "Disgenet " 6192 JAK2 Thrombocytoses MONDO_0002249 "Disgenet " 6192 JAK2 Polycythemias MONDO_0009892 "Disgenet " 6192 JAK2 Myelofibrosis MONDO_0009692 "Disgenet " 6192 JAK2 Leukemias MONDO_0005059 "Disgenet " 6192 JAK2 "Myelosclerosis with myeloid metaplasia" MONDO_0800305 "Disgenet " 6192 JAK2 "Osler Vaquez Disease" MONDO_0009891 "Disgenet " 6192 JAK2 "Disorder, Myeloproliferative" MONDO_0020076 "Disgenet " 6192 JAK2 "Ulcerative colitis" MONDO_0005101 "Disgenet " 6192 JAK2 "Familial thrombocythaemia" MONDO_0019111 "Disgenet " 6192 JAK2 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 6192 JAK2 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 6192 JAK2 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 6192 JAK2 "Familial erythrocytosis" MONDO_0007572 "Disgenet " 6192 JAK2 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 6192 JAK2 "Liver, unspecified" MONDO_0002691 "Disgenet " 6192 JAK2 "CARCINOMA OF ESOPHAGUS" MONDO_0007576 "Disgenet " 6192 JAK2 "Ankylosing spondylitis" MONDO_0005306 "Disgenet " 6192 JAK2 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 6192 JAK2 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 6192 JAK2 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 6192 JAK2 "Liver Neoplasm" MONDO_0002691 "Disgenet " 6192 JAK2 "Chiari Syndrome" MONDO_0010947 "Disgenet " 6192 JAK2 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 6192 JAK2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6193 JAK3 "human T cell leukemia" MONDO_0019471 "Disgenet " 6193 JAK3 "Leukemia, T Cell" MONDO_0004963 "Disgenet " 6193 JAK3 "T-cell prolymphocytic leukaemia" MONDO_0019468 "Disgenet " 6193 JAK3 "B Cell Lymphoma" MONDO_0015759 "Disgenet " 6193 JAK3 "Lymphoma, T Cell" MONDO_0015760 "Disgenet " 6193 JAK3 "Chronic myeloproliferative disease" MONDO_0020076 "Disgenet " 6193 JAK3 JMML MONDO_0011908 "Disgenet " 6193 JAK3 "T-B+ severe combined immunodeficiency due to JAK3 deficiency" MONDO:0010938 "ClinGen " 6193 JAK3 "Combined Immunodeficiencies, Severe" MONDO_0015974 "Disgenet " 6193 JAK3 "Acute Megakaryoblastic Leukemia" MONDO_0018872 "Disgenet " 6193 JAK3 "Deficiency Syndrome, Immunological" MONDO_0021094 "Disgenet " 6193 JAK3 "SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE" MONDO_0005511 "Disgenet " 6196 JARID2 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 6196 JARID2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 6196 JARID2 Schizophrenias MONDO_0005090 "Disgenet " 6196 JARID2 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 6196 JARID2 "Childhood autism" MONDO_0005260 "Disgenet " 6196 JARID2 "developmental delay with variable intellectual disability and dysmorphic facies" MONDO:0859306 "ClinGen " 620 APP "Fragile X Syndrome" MONDO_0010383 "Disgenet " 620 APP HCHWA MONDO_0005620 "Disgenet " 620 APP Amyloidoses MONDO_0019065 "Disgenet " 620 APP Depression MONDO_0002050 "Disgenet " 620 APP HCHWAD MONDO_0015033 "Disgenet " 620 APP "Depressive neurosis" MONDO_0002050 "Disgenet " 620 APP "Bipolar Disorders" MONDO_0004985 "Disgenet " 620 APP Amnesia MONDO_0001152 "Disgenet " 620 APP "Dementia, Vascular" MONDO_0004648 "Disgenet " 620 APP "Anxiety Disorder" MONDO_0005618 "Disgenet " 620 APP "Amyloid angiopathy" "Disgenet " 620 APP AD1 MONDO_0007088 "Disgenet " 620 APP "familial alzheimer's disease" MONDO_0015140 "Disgenet " 620 APP "Amyloid plaques" "Disgenet " 620 APP "Degenerative disease of nervous system, unspecified" MONDO_0005559 "Disgenet " 620 APP "CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED" MONDO_0011583 "Disgenet " 620 APP "Cognitive Dysfunction" "Disgenet " 620 APP "Alzheimer Disease" MONDO_0012630 "Disgenet " 620 APP Encephalopathy MONDO_0005560 "Disgenet " 620 APP "Brain Disease" MONDO_0005560 "Disgenet " 620 APP "Familial Cerebral Amyloid Angiopathy" MONDO_0018591 "Disgenet " 6204 JUN "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 6204 JUN "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 6204 JUN "Damage, Reperfusion" MONDO_0005203 "Disgenet " 6204 JUN "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6204 JUN "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 6204 JUN Schizophrenias MONDO_0005090 "Disgenet " 6204 JUN "Lung Neoplasm" MONDO_0002732 "Disgenet " 6204 JUN "Liver Neoplasm" MONDO_0002691 "Disgenet " 6204 JUN "Peripheral neuropathy" MONDO_0005244 "Disgenet " 6204 JUN "Brain Injuries" MONDO_0043510 "Disgenet " 6204 JUN "Breast Neoplasms" MONDO_0021100 "Disgenet " 6204 JUN "High blood pressure" MONDO_0005044 "Disgenet " 6205 JUNB "Lung Neoplasm" MONDO_0002732 "Disgenet " 6206 JUND "Lung Neoplasm" MONDO_0002732 "Disgenet " 6207 JUP "Arrhythmogenic right ventricular dysplasia" MONDO_0016587 "Disgenet " 6207 JUP "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 6207 JUP ARVD12 MONDO_0012684 "Disgenet " 6207 JUP "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 6207 JUP "Cancer, Ovarian" MONDO_0008170 "Disgenet " 6207 JUP "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 6207 JUP "Keratosis punctata (palmaris et plantaris)" MONDO_0006590 "Disgenet " 6207 JUP "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6207 JUP "Renal cell carcinoma" MONDO_0005549 "Disgenet " 6207 JUP Cardiomyopathy MONDO_0004994 "Disgenet " 6207 JUP "NAXOS DISEASE" MONDO_0011017 "Disgenet " 6211 ANOS1 "Syndrome, Kallmann's" MONDO_0013961 "Disgenet " 6211 ANOS1 IHH MONDO_0007794 "Disgenet " 6211 ANOS1 KAL1 MONDO_0018800 "Disgenet " 6211 ANOS1 "hypogonadotropic hypogonadism 1 with or without anosmia" MONDO:0010635 "ClinGen " 6211 ANOS1 "Hypogonadotropic hypogonadism" MONDO_0014102 "Disgenet " 6215 KARS1 DFNB89 MONDO_0013489 "Disgenet " 6215 KARS1 "Global developmental delay" "Disgenet " 6215 KARS1 Leukodystrophy MONDO_0019046 "Disgenet " 6215 KARS1 "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 6215 KARS1 Hypoacusis MONDO_0005365 "Disgenet " 6215 KARS1 RI-CMTB MONDO_0013338 "Disgenet " 6215 KARS1 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 6215 KARS1 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 6217 KATNB1 LIS6 MONDO_0014534 "Disgenet " 6218 KCNA1 "episodic ataxia type 1" MONDO:0008047 "ClinGen " 6218 KCNA1 "Episodic ataxia (disorder)" MONDO_0016227 "Disgenet " 6218 KCNA1 "Episodic ataxia type 1 (EA1)" MONDO_0016227 "Disgenet " 6218 KCNA1 PKC MONDO_0100352 "Disgenet " 6218 KCNA1 "epileptic encephalopathy" "Disgenet " 6220 KCNA2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 6220 KCNA2 "developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 6220 KCNA2 EIEE32 MONDO_0014607 "Disgenet " 6224 KCNA5 "Cancer, Breast" MONDO_0007254 "Disgenet " 6224 KCNA5 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 6224 KCNA5 "Pulmonary arterial hypertension" MONDO_0015924 "Disgenet " 6224 KCNA5 Arrhythmia MONDO_0007263 "Disgenet " 6229 KCNAB2 "1p36 Deletion Syndrome" MONDO_0011929 "Disgenet " 6231 KCNB1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 6231 KCNB1 "epileptic encephalopathy" "Disgenet " 6231 KCNB1 EIEE26 MONDO_0014477 "Disgenet " 6231 KCNB1 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 6231 KCNB1 Schizophrenias MONDO_0005090 "Disgenet " 6231 KCNB1 Epilepsies MONDO_0005027 "Disgenet " 6235 KCNC3 "spinocerebellar ataxia type 13" MONDO:0011529 "ClinGen " 6235 KCNC3 SCA13 MONDO_0011529 "Disgenet " 6239 KCND3 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 6239 KCND3 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 6239 KCND3 "Brugada syndrome 1" MONDO:0011001 "ClinGen " 6239 KCND3 "BRUGADA SYNDROME 9" MONDO_0014621 "Disgenet " 6239 KCND3 "SPINOCEREBELLAR ATAXIA 19" MONDO_0011819 "Disgenet " 6239 KCND3 "SCA 19/22" MONDO_0011819 "Disgenet " 6239 KCND3 "Brugada Syndrome" MONDO_0015263 "Disgenet " 6242 KCNE2 Arrhythmia MONDO_0007263 "Disgenet " 6242 KCNE2 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 6242 KCNE2 "LONG QT SYNDROME 6" MONDO_0013370 "Disgenet " 6242 KCNE2 "Long QT Syndrome" MONDO_0002442 "Disgenet " 6242 KCNE2 "Romano Ward Syndrome" MONDO_0019171 "Disgenet " 6242 KCNE2 "Inherited long QT syndrome" MONDO_0019171 "Disgenet " 6242 KCNE2 "long QT syndrome" MONDO:0002442 "ClinGen " 6242 KCNE2 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 6242 KCNE2 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 6242 KCNE2 "Fibrillations, Ventricular" MONDO_0000190 "Disgenet " 6243 KCNE3 "BRUGADA SYNDROME 6" MONDO_0013145 "Disgenet " 6243 KCNE3 "Brugada syndrome" MONDO:0015263 "ClinGen " 6243 KCNE3 "Brugada Syndrome" MONDO_0015263 "Disgenet " 6251 KCNH2 "Ventricular tachycardia" MONDO_0013529 "Disgenet " 6251 KCNH2 "LONG QT SYNDROME 2" MONDO_0013367 "Disgenet " 6251 KCNH2 Arrhythmia MONDO_0007263 "Disgenet " 6251 KCNH2 "Long QT Syndrome" MONDO_0002442 "Disgenet " 6251 KCNH2 "de Pointes, Torsade" MONDO_0005478 "Disgenet " 6251 KCNH2 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 6251 KCNH2 "Short QT Syndrome" MONDO_0000453 "Disgenet " 6251 KCNH2 SQT1 MONDO_0000453 "Disgenet " 6251 KCNH2 "short QT syndrome" MONDO:0000453 "ClinGen " 6251 KCNH2 "Brugada syndrome" MONDO:0015263 "ClinGen " 6251 KCNH2 "long QT syndrome" MONDO:0002442 "ClinGen " 6251 KCNH2 VTSIP MONDO_0017990 "Disgenet " 6251 KCNH2 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 6251 KCNH2 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 6251 KCNH2 "Unspecified nonorganic psychosis" "Disgenet " 6251 KCNH2 Psychosis MONDO_0005485 "Disgenet " 6251 KCNH2 "Conduction disorders" MONDO_0100042 "Disgenet " 6251 KCNH2 "Inherited long QT syndrome" MONDO_0019171 "Disgenet " 6251 KCNH2 "Brugada Syndrome" MONDO_0015263 "Disgenet " 6251 KCNH2 "Romano Ward Syndrome" MONDO_0019171 "Disgenet " 6251 KCNH2 Schizophrenias MONDO_0005090 "Disgenet " 6255 KCNJ1 "High blood pressure" MONDO_0005044 "Disgenet " 6255 KCNJ1 "Bartter Disease" MONDO_0015231 "Disgenet " 6255 KCNJ1 "Bartter syndrome, antenatal , type 2" MONDO_0009424 "Disgenet " 6256 KCNJ10 "Epilepsy, ataxia, sensorineural deafness and tubulopathy" MONDO_0013005 "Disgenet " 6256 KCNJ10 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 6256 KCNJ10 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 6256 KCNJ10 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 6256 KCNJ10 "PENDRED SYNDROME" MONDO_0010134 "Disgenet " 6256 KCNJ10 NSRD4 MONDO_0010933 "Disgenet " 6256 KCNJ10 "EAST syndrome" MONDO:0013005 "ClinGen " 6256 KCNJ10 "enlarged vestibular aqueduct syndrome" MONDO:0023069 "ClinGen " 6257 KCNJ11 "monogenic diabetes" MONDO:0015967 "ClinGen " 6257 KCNJ11 "MODY, TYPE 13" MONDO_0014589 "Disgenet " 6257 KCNJ11 Hypoglycemia MONDO_0004946 "Disgenet " 6257 KCNJ11 "Transitory neonatal diabetes mellitus" MONDO_0011073 "Disgenet " 6257 KCNJ11 "Maturity onset diabetes mellitus in young" MONDO_0018911 "Disgenet " 6257 KCNJ11 "DIABETES MELLITUS, PERMANENT NEONATAL" MONDO_0100164 "Disgenet " 6257 KCNJ11 PHHI MONDO_0019010 "Disgenet " 6257 KCNJ11 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 6257 KCNJ11 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 6257 KCNJ11 HHF2 MONDO_0011153 "Disgenet " 6257 KCNJ11 "Intermediate DEND syndrome" MONDO_0020569 "Disgenet " 6257 KCNJ11 Hyperinsulinism MONDO_0002177 "Disgenet " 6257 KCNJ11 "Neonatal diabetes mellitus" MONDO_0020525 "Disgenet " 6257 KCNJ11 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 6257 KCNJ11 "DEND (developmental delay, epilepsy, neonatal diabetes) syndrome" MONDO_0019207 "Disgenet " 6257 KCNJ11 "Monogenic diabetes" MONDO_0015967 "Disgenet " 6259 KCNJ13 SVD MONDO_0008663 "Disgenet " 6259 KCNJ13 "Leber congenital amaurosis" MONDO_0018998 "Disgenet " 6259 KCNJ13 "inherited retinal dystrophy" MONDO:0019118 "ClinGen " 6259 KCNJ13 "LEBER CONGENITAL AMAUROSIS 16" MONDO_0013613 "Disgenet " 626 APRT "2,8-Dihydroxyadenine Urolithiasis" MONDO_0013869 "Disgenet " 626 APRT "Depressive neurosis" MONDO_0002050 "Disgenet " 626 APRT Depression MONDO_0002050 "Disgenet " 626 APRT "Adenine phosphoribosyltransferase deficiency" MONDO_0013869 "Disgenet " 626 APRT Urolithiases MONDO_0024647 "Disgenet " 6263 KCNJ2 "Andersen Tawil syndrome (disorder)" MONDO_0008222 "Disgenet " 6263 KCNJ2 "Familial Periodic Paralyses" MONDO_0016122 "Disgenet " 6263 KCNJ2 "Long QT Syndrome" MONDO_0002442 "Disgenet " 6263 KCNJ2 Arrhythmia MONDO_0007263 "Disgenet " 6263 KCNJ2 "SHORT QT SYNDROME 3" MONDO_0012314 "Disgenet " 6263 KCNJ2 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 6263 KCNJ2 "Short QT Syndrome" MONDO_0000453 "Disgenet " 6263 KCNJ2 "congenital heart disease" MONDO:0005453 "ClinGen " 6263 KCNJ2 "catecholaminergic polymorphic ventricular tachycardia" MONDO:0017990 "ClinGen " 6263 KCNJ2 "short QT syndrome" MONDO:0000453 "ClinGen " 6263 KCNJ2 "long QT syndrome" MONDO:0002442 "ClinGen " 6263 KCNJ2 "Polymorphic catecholergic ventricular tachycardia" MONDO_0017990 "Disgenet " 6263 KCNJ2 "Fibrillations, Ventricular" MONDO_0000190 "Disgenet " 6263 KCNJ2 "Inherited long QT syndrome" MONDO_0019171 "Disgenet " 6263 KCNJ2 "Ventricular tachycardia" MONDO_0013529 "Disgenet " 6266 KCNJ5 "Cushing Syndrome" MONDO_0003009 "Disgenet " 6266 KCNJ5 Hyperaldosteronism MONDO_0003009 "Disgenet " 6266 KCNJ5 Adenoma MONDO_0004972 "Disgenet " 6266 KCNJ5 "Familial Hyperaldosteronism" MONDO_0016525 "Disgenet " 6266 KCNJ5 "Andersen Tawil syndrome (disorder)" MONDO_0008222 "Disgenet " 6266 KCNJ5 "Long QT Syndrome" MONDO_0002442 "Disgenet " 6266 KCNJ5 "long QT syndrome" MONDO:0002442 "ClinGen " 6266 KCNJ5 "LONG QT SYNDROME 13" MONDO_0013279 "Disgenet " 6266 KCNJ5 "HYPERALDOSTERONISM, FAMILIAL, TYPE III" MONDO_0013359 "Disgenet " 6266 KCNJ5 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 6278 KCNK3 "Pulmonary arterial hypertension" MONDO_0015924 "Disgenet " 6278 KCNK3 "pulmonary arterial hypertension" MONDO:0015924 "ClinGen " 6278 KCNK3 "Familial primary pulmonary hypertension" MONDO_0001999 "Disgenet " 6283 KCNK9 "Mental Retardation with Hypotonia and Facial Dysmorphism" MONDO_0012856 "Disgenet " 6283 KCNK9 "Child Development Disorder" MONDO_0005287 "Disgenet " 6283 KCNK9 "Absence Epilepsy" MONDO_0010826 "Disgenet " 6284 KCNMA1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 6284 KCNMA1 "PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY" MONDO_0012276 "Disgenet " 6284 KCNMA1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 6284 KCNMA1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 6284 KCNMA1 "Global developmental delay" "Disgenet " 6284 KCNMA1 "Childhood autism" MONDO_0005260 "Disgenet " 6284 KCNMA1 "LIANG-WANG SYNDROME" MONDO_0032886 "Disgenet " 6284 KCNMA1 "generalized epilepsy-paroxysmal dyskinesia syndrome" MONDO:0012276 "ClinGen " 6284 KCNMA1 "generalized epilepsy-paroxysmal dyskinesia syndrome" MONDO:0012276 "ClinGen " 6284 KCNMA1 GEPD MONDO_0012276 "Disgenet " 6284 KCNMA1 Obesity MONDO_0019182 "Disgenet " 6284 KCNMA1 "Status Epilepticus" MONDO_0002125 "Disgenet " 6285 KCNMB1 "High blood pressure" MONDO_0005044 "Disgenet " 6291 KCNN2 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 6291 KCNN2 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 6291 KCNN2 "cardiac toxicity" "Disgenet " 6291 KCNN2 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 6291 KCNN2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 6291 KCNN2 "Global developmental delay" "Disgenet " 6292 KCNN3 "Laband syndrome" MONDO_0000200 "Disgenet " 6292 KCNN3 "Bipolar Disorders" MONDO_0004985 "Disgenet " 6292 KCNN3 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 6292 KCNN3 Schizophrenias MONDO_0005090 "Disgenet " 6293 KCNN4 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 6293 KCNN4 DHS2 MONDO_0014737 "Disgenet " 6293 KCNN4 DHS MONDO_0017910 "Disgenet " 6293 KCNN4 "Cystic Fibrosis" MONDO_0009061 "Disgenet " 6294 KCNQ1 "Polymorphic ventricular tachycardia" MONDO_0020575 "Disgenet " 6294 KCNQ1 Adenocarcinoma MONDO_0004970 "Disgenet " 6294 KCNQ1 "LONG QT SYNDROME 2" MONDO_0013367 "Disgenet " 6294 KCNQ1 "Short QT Syndrome" MONDO_0000453 "Disgenet " 6294 KCNQ1 Arrhythmia MONDO_0007263 "Disgenet " 6294 KCNQ1 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 6294 KCNQ1 SIDS "Disgenet " 6294 KCNQ1 "Beckwith Wiedemann Syndrome" MONDO_0013038 "Disgenet " 6294 KCNQ1 Hypoacusis MONDO_0005365 "Disgenet " 6294 KCNQ1 "SHORT QT SYNDROME 2" MONDO_0012313 "Disgenet " 6294 KCNQ1 "Brugada Syndrome" MONDO_0015263 "Disgenet " 6294 KCNQ1 "Inherited long QT syndrome" MONDO_0019171 "Disgenet " 6294 KCNQ1 "Jervell Lange Nielsen Syndrome" MONDO_0002441 "Disgenet " 6294 KCNQ1 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 6294 KCNQ1 "Long QT Syndrome" MONDO_0002442 "Disgenet " 6294 KCNQ1 "Romano Ward Syndrome" MONDO_0019171 "Disgenet " 6294 KCNQ1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 6294 KCNQ1 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 6294 KCNQ1 "long QT syndrome" MONDO:0002442 "ClinGen " 6294 KCNQ1 "Jervell and Lange-Nielsen syndrome" MONDO:0002441 "ClinGen " 6294 KCNQ1 "short QT syndrome" MONDO:0000453 "ClinGen " 6296 KCNQ2 "neonatal-onset developmental and epileptic encephalopathy" MONDO:0100455 "ClinGen " 6296 KCNQ2 "neonatal encephalopathy with non-epileptic myoclonus" MONDO:0100456 "ClinGen " 6296 KCNQ2 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 6296 KCNQ2 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 6296 KCNQ2 "Early infantile epileptic encephalopathy with burst-suppression" MONDO_0100062 "Disgenet " 6296 KCNQ2 "Diseases, Nervous System" MONDO_0005071 "Disgenet " 6296 KCNQ2 "Encephalopathy neonatal" "Disgenet " 6296 KCNQ2 "Infantile spasms" MONDO_0018097 "Disgenet " 6296 KCNQ2 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 6296 KCNQ2 "Benign familial neonatal convulsions" MONDO_0016027 "Disgenet " 6296 KCNQ2 Epilepsies MONDO_0005027 "Disgenet " 6296 KCNQ2 EIEE7 MONDO_0013387 "Disgenet " 6296 KCNQ2 BFNC2 MONDO_0007366 "Disgenet " 6296 KCNQ2 Encephalopathy MONDO_0005560 "Disgenet " 6296 KCNQ2 Schizophrenias MONDO_0005090 "Disgenet " 6296 KCNQ2 "Migrating Partial Seizures in Infancy" MONDO_0017385 "Disgenet " 6296 KCNQ2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 6296 KCNQ2 "Child Development Disorder" MONDO_0005287 "Disgenet " 6296 KCNQ2 "epileptic encephalopathy" "Disgenet " 6296 KCNQ2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 6296 KCNQ2 "KCNQ2-related epileptic encephalopathy" MONDO_0013387 "Disgenet " 6296 KCNQ2 "Global developmental delay" "Disgenet " 6296 KCNQ2 "Benign Neonatal Convulsion" MONDO_0016027 "Disgenet " 6297 KCNQ3 BFNC2 MONDO_0007366 "Disgenet " 6297 KCNQ3 "Benign familial neonatal convulsions" MONDO_0016027 "Disgenet " 6297 KCNQ3 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 6297 KCNQ3 "Benign Neonatal Convulsion" MONDO_0016027 "Disgenet " 6297 KCNQ3 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 6297 KCNQ3 "Childhood autism" MONDO_0005260 "Disgenet " 6297 KCNQ3 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 6297 KCNQ3 "developmental and epileptic encephalopathy" MONDO:0100062 "ClinGen " 6297 KCNQ3 "self-limited familial neonatal epilepsy" MONDO:0100023 "ClinGen " 6297 KCNQ3 "Bipolar Disorders" MONDO_0004985 "Disgenet " 6297 KCNQ3 "juvenile myoclonic epilepsy" MONDO_0009696 "Disgenet " 6297 KCNQ3 "Epilepsies, Rolandic" MONDO_0007295 "Disgenet " 6298 KCNQ4 DFNA2A MONDO_0010817 "Disgenet " 6298 KCNQ4 "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 6298 KCNQ4 "Hearing Loss, Noise Induced" MONDO_0013098 "Disgenet " 6298 KCNQ4 Hypoacusis MONDO_0005365 "Disgenet " 6298 KCNQ4 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 6302 KCNS3 Schizophrenias MONDO_0005090 "Disgenet " 6307 KDR "pulmonary arterial hypertension" MONDO:0015924 "ClinGen " 6307 KDR "Temporal lobe epilepsy" MONDO_0005115 "Disgenet " 6307 KDR "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 6307 KDR "EMD - Exudative macular degeneration" MONDO_0005417 "Disgenet " 6307 KDR "Pulmonary arterial hypertension" MONDO_0015924 "Disgenet " 6307 KDR Schizophrenias MONDO_0005090 "Disgenet " 6307 KDR "Primary Glioblastoma" MONDO_0018177 "Disgenet " 6307 KDR "adenocarcinoma of large intestine (diagnosis)" MONDO_0005008 "Disgenet " 6307 KDR "adenocarcinoma of esophagus (diagnosis)" MONDO_0005028 "Disgenet " 6307 KDR "Damage, Reperfusion" MONDO_0005203 "Disgenet " 6307 KDR Adenocarcinoma MONDO_0004970 "Disgenet " 6307 KDR Glioblastoma MONDO_0018177 "Disgenet " 6307 KDR "Lung Neoplasm" MONDO_0002732 "Disgenet " 6307 KDR "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 6307 KDR "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 6307 KDR "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 6307 KDR "High blood pressure" MONDO_0005044 "Disgenet " 6307 KDR "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 6307 KDR "Breast Neoplasms" MONDO_0021100 "Disgenet " 6307 KDR "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 6307 KDR "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 6307 KDR "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6307 KDR "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 6307 KDR hypernephroma MONDO_0005086 "Disgenet " 6307 KDR "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 6307 KDR "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 6307 KDR "Pancreatic carcinoma" MONDO_0005192 "Disgenet " 6307 KDR Angiosarcomas MONDO_0016982 "Disgenet " 6307 KDR "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 6307 KDR "Fallot Tetralogy" MONDO_0008542 "Disgenet " 6307 KDR "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 6307 KDR "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 6307 KDR CRC MONDO_0005335 "Disgenet " 6307 KDR "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 6315 KHK "Essential fructosuria" MONDO_0009252 "Disgenet " 6317 KIF1C "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 6317 KIF1C SPAX2 MONDO_0012651 "Disgenet " 6319 KIF3A Polydactyly MONDO_0021003 "Disgenet " 6319 KIF3A Asthma MONDO_0004979 "Disgenet " 6320 KIF3B RP89 MONDO_0030071 "Disgenet " 6323 KIF5A "amyotrophic lateral sclerosis, susceptibility to, 25" MONDO:0060670 "ClinGen " 6323 KIF5A "inherited neurodegenerative disorder" MONDO:0024237 "ClinGen " 6323 KIF5A "Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant" MONDO_0019064 "Disgenet " 6323 KIF5A "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 6323 KIF5A "Multiple Sclerosis" MONDO_0005301 "Disgenet " 6323 KIF5A "SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT" MONDO_0011408 "Disgenet " 6323 KIF5A "Paraplegias, Spastic" MONDO_0003757 "Disgenet " 6323 KIF5A "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 6323 KIF5A "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 6323 KIF5A "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 6324 KIF5B "Diabetes Mellitus" MONDO_0005015 "Disgenet " 6324 KIF5B "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 6325 KIF5C "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2" MONDO_0014116 "Disgenet " 6325 KIF5C "complex cortical dysplasia with other brain malformations 2" MONDO:0014116 "ClinGen " 6325 KIF5C Microcephalies MONDO_0001149 "Disgenet " 633 AQP1 "Cord Injuries, Spinal" MONDO_0043797 "Disgenet " 633 AQP1 "Pulmonary arterial hypertension" MONDO_0015924 "Disgenet " 633 AQP1 "Polycystic Kidney, Autosomal Recessive" MONDO_0009889 "Disgenet " 633 AQP1 Carcinoma MONDO_0004993 "Disgenet " 633 AQP1 "Adenoid cystic carcinoma" MONDO_0003175 "Disgenet " 633 AQP1 "pulmonary arterial hypertension" MONDO:0015924 "ClinGen " 6338 KIR3DL1 "Infection, Plasmodium" MONDO_0005136 "Disgenet " 6338 KIR3DL1 "Hepatitis C" MONDO_0005231 "Disgenet " 6338 KIR3DL1 "HIV infection" MONDO_0005109 "Disgenet " 6342 KIT Thymoma MONDO_0006456 "Disgenet " 6342 KIT "Malignant neoplasm of testis" MONDO_0005447 "Disgenet " 6342 KIT "Diseases, Lung" MONDO_0005275 "Disgenet " 6342 KIT "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 6342 KIT "adenocarcinoma of large intestine (diagnosis)" MONDO_0005008 "Disgenet " 6342 KIT "Mastocytoma, Skin" MONDO_0019314 "Disgenet " 6342 KIT "gastrointestinal stromal tumor" MONDO:0011719 "ClinGen " 6342 KIT "Breast Neoplasms" MONDO_0021100 "Disgenet " 6342 KIT Seminoma MONDO_0003669 "Disgenet " 6342 KIT Disgerminomas MONDO_0003002 "Disgenet " 6342 KIT "Hematologic Neoplasm" MONDO_0044881 "Disgenet " 6342 KIT "Acute mast cell leukemia" MONDO_0035444 "Disgenet " 6342 KIT "Mesothelioma, malignant" MONDO_0006292 "Disgenet " 6342 KIT "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 6342 KIT "systemic mastocytosis with associated clonal hematologic non-mast cell lineage disease (diagnosis)" MONDO_0020332 "Disgenet " 6342 KIT "Acute Myeloid Leukemia with t(8;21)(q22;q22)(AML1(CBFa)/ETO)" MONDO_0850492 "Disgenet " 6342 KIT "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 6342 KIT "Mast cell leukemia" MONDO_0020334 "Disgenet " 6342 KIT "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 6342 KIT "Neoplasm, Testicular" MONDO_0005447 "Disgenet " 6342 KIT TGCT MONDO_0010108 "Disgenet " 6342 KIT "Cutaneous mastocytosis" MONDO_0019023 "Disgenet " 6342 KIT "Renal cell carcinoma" MONDO_0005549 "Disgenet " 6342 KIT GIST MONDO_0011719 "Disgenet " 6342 KIT Melanoma MONDO_0005105 "Disgenet " 6342 KIT "Cutaneous Albinism" MONDO_0008244 "Disgenet " 6342 KIT "Systemic mastocytosis" MONDO_0016586 "Disgenet " 6342 KIT Mastocytosis MONDO_0007950 "Disgenet " 6342 KIT "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 6342 KIT "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 6342 KIT "seminoma of testis (diagnosis)" MONDO_0003669 "Disgenet " 6342 KIT "Malignant melanoma of skin" MONDO_0005012 "Disgenet " 6342 KIT "Chronic myeloproliferative disease" MONDO_0020076 "Disgenet " 6342 KIT "Cancer, Ovarian" MONDO_0008170 "Disgenet " 6342 KIT "GASTROINTESTINAL STROMAL TUMOR, FAMILIAL" "Disgenet " 6343 KITLG "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 6343 KITLG MUH MONDO_0013648 "Disgenet " 6343 KITLG "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 6343 KITLG Obesity MONDO_0019182 "Disgenet " 6343 KITLG "Cutaneous mastocytosis" MONDO_0019023 "Disgenet " 6343 KITLG "Waardenburg Syndrome Type II" MONDO_0019517 "Disgenet " 6343 KITLG Carcinoma MONDO_0004993 "Disgenet " 6343 KITLG "Familial progressive hyper and hypopigmentation" MONDO_0017239 "Disgenet " 6343 KITLG "Neoplasm, Testicular" MONDO_0005447 "Disgenet " 6344 KL "Skin Disease" MONDO_0005093 "Disgenet " 6344 KL Hypercalcemia MONDO_0001566 "Disgenet " 6344 KL "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 6344 KL "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 6344 KL "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 6344 KL "Coronary Disease" MONDO_0005010 "Disgenet " 6344 KL "Aging, Premature" MONDO_0019303 "Disgenet " 6344 KL HYPERPHOSPHATEMIA MONDO_0000328 "Disgenet " 6344 KL Osteoporoses MONDO_0005298 "Disgenet " 6344 KL Nephropathy MONDO_0005240 "Disgenet " 6344 KL Arterioscleroses MONDO_0002277 "Disgenet " 6347 KLF2 "pulmonary arterial hypertension" MONDO:0015924 "ClinGen " 6347 KLF2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 6347 KLF2 "Pulmonary arterial hypertension" MONDO_0015924 "Disgenet " 6348 KLF4 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6349 KLF5 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 6349 KLF5 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 6349 KLF5 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 6349 KLF5 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 6349 KLF5 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 6349 KLF5 "Cancer, Squamous Cell" MONDO_0002532 "Disgenet " 6349 KLF5 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 6349 KLF5 CRC MONDO_0005335 "Disgenet " 6350 KLF7 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 6354 KLHL3 Pseudohypoaldosteronism MONDO_0018638 "Disgenet " 6354 KLHL3 "PSEUDOHYPOALDOSTERONISM, TYPE IID" MONDO_0013781 "Disgenet " 6357 KLK1 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 6357 KLK1 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 6357 KLK1 "pulmonary arterial hypertension" MONDO:0015924 "ClinGen " 6357 KLK1 "High blood pressure" MONDO_0005044 "Disgenet " 6357 KLK1 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 6357 KLK1 "Acute kidney injury" MONDO_0002492 "Disgenet " 6357 KLK1 Cardiomyopathy MONDO_0004994 "Disgenet " 6358 KLK10 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 6358 KLK10 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6358 KLK10 "Breast Neoplasms" MONDO_0021100 "Disgenet " 6358 KLK10 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 6358 KLK10 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 636 AQP3 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 636 AQP3 "Neoplasm, Skin" MONDO_0002531 "Disgenet " 636 AQP3 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 636 AQP3 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 6365 KLK4 "Amelogenesis Imperfecta" MONDO_0007092 "Disgenet " 6365 KLK4 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6365 KLK4 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 6365 KLK4 "Dentinogenesis Imperfecta" MONDO_0014560 "Disgenet " 6365 KLK4 "Amelogenesis Imperfecta hypomaturation type" MONDO_0015048 "Disgenet " 6366 KLK5 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6367 KLK6 "Lewy Body Disease" MONDO_0007488 "Disgenet " 6367 KLK6 "Parkinson Disease" MONDO_0014796 "Disgenet " 6367 KLK6 "Alzheimer Disease" MONDO_0012630 "Disgenet " 6369 KLK8 "Bipolar Disorders" MONDO_0004985 "Disgenet " 637 AQP4 "Neuritides, Optic" MONDO_0005885 "Disgenet " 637 AQP4 "Myelitis, Transverse" MONDO_0021553 "Disgenet " 637 AQP4 Schizophrenias MONDO_0005090 "Disgenet " 637 AQP4 Depression MONDO_0002050 "Disgenet " 637 AQP4 "Depressive neurosis" MONDO_0002050 "Disgenet " 637 AQP4 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 637 AQP4 "Disease, Meniere" MONDO_0007972 "Disgenet " 637 AQP4 "Childhood autism" MONDO_0005260 "Disgenet " 637 AQP4 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 637 AQP4 "Drug-induced depressive state" "Disgenet " 637 AQP4 "Temporal lobe epilepsy" MONDO_0005115 "Disgenet " 637 AQP4 "Cord Injuries, Spinal" MONDO_0043797 "Disgenet " 637 AQP4 "Status Epilepticus" MONDO_0002125 "Disgenet " 637 AQP4 "Neuromyelitis Optica" MONDO_0019100 "Disgenet " 6371 KLKB1 "Prekallikrein deficiency" MONDO_0012901 "Disgenet " 6371 KLKB1 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 6371 KLKB1 "inherited prekallikrein deficiency" MONDO:0012901 "ClinGen " 6373 KLRB1 Melanoma MONDO_0005105 "Disgenet " 6377 KLRC4 "Behcet Syndrome" MONDO_0007191 "Disgenet " 638 AQP5 "PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE" MONDO_0010849 "Disgenet " 6387 KLC1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 6388 KIF11 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 6388 KIF11 "Chorioretinal dysplasia-microcephaly-mental retardation syndrome" MONDO_0007918 "Disgenet " 6388 KIF11 Lymphedema MONDO_0019297 "Disgenet " 6388 KIF11 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 6388 KIF11 "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability" MONDO:0007918 "ClinGen " 6388 KIF11 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6389 KIFC1 "Triple-Negative Breast Cancers" MONDO_0005494 "Disgenet " 6389 KIFC1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6391 KIF22 "Spondyloepimetaphyseal dysplasia with multiple dislocations, hall type" MONDO_0011335 "Disgenet " 6393 KIF2C "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6394 KPNA1 Schizophrenias MONDO_0005090 "Disgenet " 6395 KPNA2 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 6396 KPNA3 SPG88 MONDO_0859309 "Disgenet " 6396 KPNA3 Schizophrenias MONDO_0005090 "Disgenet " 6396 KPNA3 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 6396 KPNA3 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 640 AQP7 Obesity MONDO_0019182 "Disgenet " 6402 IPO5 Schizophrenias MONDO_0005090 "Disgenet " 6404 KPTN "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 6408 MAFB "OROFACIAL CLEFT 1" MONDO_0007335 "Disgenet " 6408 MAFB "Duane's syndrome" MONDO_0007473 "Disgenet " 6408 MAFB MCTO MONDO_0008152 "Disgenet " 6412 KRT1 "Epidermolytic Hyperkeratoses" MONDO_0020702 "Disgenet " 6412 KRT1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 6412 KRT1 Keratoses MONDO_0006566 "Disgenet " 6412 KRT1 "ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE" MONDO_0007808 "Disgenet " 6412 KRT1 EHK1 MONDO_0007239 "Disgenet " 6412 KRT1 "PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC" MONDO_0010962 "Disgenet " 6412 KRT1 "Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis" MONDO_0011870 "Disgenet " 6412 KRT1 IWC MONDO_0012208 "Disgenet " 6412 KRT1 "EPPKs (Epidermolytic Palmoplantar Keratoderma)" MONDO_0007758 "Disgenet " 6413 KRT10 "Epidermolytic Hyperkeratoses" MONDO_0020702 "Disgenet " 6413 KRT10 "Epidermolytic acanthoma" MONDO_0002962 "Disgenet " 6413 KRT10 "Epidermolytic epidermal nevus (morphologic abnormality)" MONDO_0044656 "Disgenet " 6413 KRT10 "Autosomal recessive epidermolytic ichthyosis" MONDO_0044742 "Disgenet " 6413 KRT10 IWC MONDO_0012208 "Disgenet " 6413 KRT10 "Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis" MONDO_0011870 "Disgenet " 6413 KRT10 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 6413 KRT10 Keratoses MONDO_0006566 "Disgenet " 6413 KRT10 "EPIDERMOLYTIC HYPERKERATOSIS 2" MONDO_0700248 "Disgenet " 6415 KRT13 "Hereditary Mucosal Leukokeratoses" MONDO_0015748 "Disgenet " 6415 KRT13 "WHITE SPONGE NEVUS 2" MONDO_0014346 "Disgenet " 6416 KRT14 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 6416 KRT14 "Epidermolysis Bullosa Simplex" MONDO_0007550 "Disgenet " 6416 KRT14 NFJS MONDO_0008059 "Disgenet " 6416 KRT14 "DERMATOPATHIA PIGMENTOSA RETICULARIS" MONDO_0007445 "Disgenet " 6416 KRT14 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 6416 KRT14 "Breast Neoplasms" MONDO_0021100 "Disgenet " 6416 KRT14 "Epidermolysis Bullosa Herpetiformis, Dowling Meara" MONDO_0017610 "Disgenet " 6416 KRT14 "Weber Cockayne Syndrome" MONDO_0017610 "Disgenet " 6423 KRT16 FNEPPK1 MONDO_0013073 "Disgenet " 6423 KRT16 "Ectodermal Dysplasias" MONDO_0019287 "Disgenet " 6423 KRT16 "Jadassohn Lewandowsky Syndrome" MONDO_0016471 "Disgenet " 6423 KRT16 "Pachyonychia Congenita" MONDO_0016471 "Disgenet " 6427 KRT17 "Pachyonychia Congenita" MONDO_0016471 "Disgenet " 6427 KRT17 "Ectodermal Dysplasias" MONDO_0019287 "Disgenet " 6427 KRT17 "Jadassohn Lewandowsky Syndrome" MONDO_0016471 "Disgenet " 6427 KRT17 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 6427 KRT17 "Neoplasm, Skin" MONDO_0002531 "Disgenet " 6427 KRT17 "Jackson Lawler Type Pachyonychia Congenita" MONDO_0016471 "Disgenet " 6427 KRT17 "Steatocystoma multiplex" MONDO_0008485 "Disgenet " 643 AQP9 "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 6430 KRT18 "CIRRHOSIS, CRYPTOGENIC" MONDO_0007329 "Disgenet " 6430 KRT18 "Liver Neoplasm" MONDO_0002691 "Disgenet " 6430 KRT18 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 6430 KRT18 "Liver Failure, Acute" MONDO_0019542 "Disgenet " 6430 KRT18 "Breast Neoplasms" MONDO_0021100 "Disgenet " 6436 KRT19 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 644 AR "Depressive neurosis" MONDO_0002050 "Disgenet " 644 AR "Breast Neoplasm, Male" MONDO_0005628 "Disgenet " 644 AR "Infertility, Male" MONDO_0005372 "Disgenet " 644 AR Obesity MONDO_0019182 "Disgenet " 644 AR "High blood pressure" MONDO_0005044 "Disgenet " 644 AR "Fibroid Tumor" MONDO_0001572 "Disgenet " 644 AR "Androgen insensitivity syndrome" MONDO_0019154 "Disgenet " 644 AR "Partial androgen insensitivity syndrome" MONDO_0010720 "Disgenet " 644 AR "Neoplasm, Castration-Resistant Prostatic" MONDO_0850353 "Disgenet " 644 AR KD MONDO_0010735 "Disgenet " 644 AR "Breast Neoplasms" MONDO_0021100 "Disgenet " 644 AR "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 644 AR Alcoholism MONDO_0002046 "Disgenet " 644 AR "Atrophy, Spinal Muscular" MONDO_0001516 "Disgenet " 644 AR "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 644 AR Cryptorchism MONDO_0009047 "Disgenet " 644 AR Hypospadia MONDO_0005345 "Disgenet " 644 AR "Testicular Feminization Syndrome" MONDO_0019154 "Disgenet " 644 AR "Prostatic Cancers, Androgen-Independent" MONDO_0850353 "Disgenet " 644 AR Leukemias MONDO_0005059 "Disgenet " 644 AR "Alcohol withdrawal syndrome" MONDO_0005433 "Disgenet " 644 AR "Affective Disorders" MONDO_0005371 "Disgenet " 644 AR "Childhood autism" MONDO_0005260 "Disgenet " 644 AR "Lung Neoplasm" MONDO_0002732 "Disgenet " 644 AR Alopecias MONDO_0004907 "Disgenet " 644 AR Depression MONDO_0002050 "Disgenet " 644 AR Endometrium MONDO_0011962 "Disgenet " 644 AR "Liver cell carcinoma" MONDO_0007256 "Disgenet " 644 AR "Kennedy disease" MONDO:0010735 "ClinGen " 644 AR "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 6442 KRT5 "Breast Neoplasms" MONDO_0021100 "Disgenet " 6442 KRT5 "Dowling-Degos disease" MONDO_0008371 "Disgenet " 6442 KRT5 "Kabner's disease" MONDO_0017610 "Disgenet " 6442 KRT5 Epithelioma MONDO_0004993 "Disgenet " 6442 KRT5 "Adenoid cystic carcinoma" MONDO_0003175 "Disgenet " 6442 KRT5 "Weber Cockayne Syndrome" MONDO_0017610 "Disgenet " 6442 KRT5 "Epidermolysis Bullosa" MONDO_0006541 "Disgenet " 6442 KRT5 "Epidermolysis Bullosa Simplex" MONDO_0007550 "Disgenet " 6442 KRT5 "Epidermolysis bullosa simplex with mottled pigmentation" MONDO_0007556 "Disgenet " 6442 KRT5 Carcinoma MONDO_0004993 "Disgenet " 6443 KRT6A "Jadassohn Lewandowsky Syndrome" MONDO_0016471 "Disgenet " 6443 KRT6A "Pachyonychia Congenita" MONDO_0016471 "Disgenet " 6444 KRT6B "Pachyonychia Congenita" MONDO_0016471 "Disgenet " 6444 KRT6B "Jadassohn Lewandowsky Syndrome" MONDO_0016471 "Disgenet " 6445 KRT7 "primary biliary cirrhosis" MONDO_0005388 "Disgenet " 6445 KRT7 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 6445 KRT7 "Oxyphilic adenoma" MONDO_0003424 "Disgenet " 6446 KRT8 "Liver Neoplasm" MONDO_0002691 "Disgenet " 6446 KRT8 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 6446 KRT8 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 6446 KRT8 "Breast Neoplasms" MONDO_0021100 "Disgenet " 6446 KRT8 "Liver Failure, Acute" MONDO_0019542 "Disgenet " 6460 KRT83 Monilethrix MONDO_0008009 "Disgenet " 6467 KTN1 "Cancer, Breast" MONDO_0007254 "Disgenet " 6473 AFF3 "MESOMELIC DYSPLASIA, AFF3-RELATED" MONDO_0851095 "Disgenet " 6473 AFF3 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 648 ARC Alcoholism MONDO_0002046 "Disgenet " 648 ARC Schizophrenias MONDO_0005090 "Disgenet " 648 ARC "Alzheimer Disease" MONDO_0012630 "Disgenet " 6481 LAMA1 "PORETTI-BOLTSHAUSER SYNDROME" MONDO_0014419 "Disgenet " 6481 LAMA1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 6482 LAMA2 "Limb-girdle muscular dystrophy autosomal recessive" MONDO_0015152 "Disgenet " 6482 LAMA2 Polymicrogyria MONDO_0000087 "Disgenet " 6482 LAMA2 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 6482 LAMA2 "Laminin subunit alpha 2-related muscular dystrophy" MONDO_0100228 "Disgenet " 6482 LAMA2 "Congenital muscular dystrophy" MONDO_0019950 "Disgenet " 6482 LAMA2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 6482 LAMA2 Nearsightedness MONDO_0001384 "Disgenet " 6482 LAMA2 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23" MONDO_0029136 "Disgenet " 6482 LAMA2 Myopathy MONDO_0003939 "Disgenet " 6482 LAMA2 MDC1A MONDO_0011925 "Disgenet " 6482 LAMA2 "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 6482 LAMA2 "LAMA2-related muscular dystrophy" MONDO:0100228 "ClinGen " 6483 LAMA3 LOCS MONDO_0009513 "Disgenet " 6483 LAMA3 "Epidermolysis Bullosa, Junctional" MONDO_0017612 "Disgenet " 6484 LAMA4 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 6484 LAMA4 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 6484 LAMA4 "Arrhythmogenic right ventricular dysplasia" MONDO_0016587 "Disgenet " 6484 LAMA4 "CARDIOMYOPATHY, DILATED, 1JJ" MONDO_0014095 "Disgenet " 6485 LAMA5 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 6487 LAMB2 Nephropathy MONDO_0005240 "Disgenet " 6487 LAMB2 "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 6487 LAMB2 "Diffuse mesangial sclerosis" MONDO_0009733 "Disgenet " 6487 LAMB2 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 6487 LAMB2 "NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES" MONDO_0013621 "Disgenet " 6487 LAMB2 "PIERSON SYNDROME" MONDO_0012184 "Disgenet " 6490 LAMB3 "Epidermolysis Bullosa, Junctional" MONDO_0017612 "Disgenet " 6490 LAMB3 "Epidermolysis bullosa letalis" MONDO_0009182 "Disgenet " 6490 LAMB3 "Generalised atrophic benign epidermolysis bullosa - GABEB" MONDO_0019307 "Disgenet " 6490 LAMB3 CRC MONDO_0005335 "Disgenet " 6490 LAMB3 "Amelogenesis imperfecta, hypoplastic" MONDO_0007094 "Disgenet " 6490 LAMB3 "Amelogenesis Imperfecta" MONDO_0007092 "Disgenet " 6492 LAMC1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6492 LAMC1 CRC MONDO_0005335 "Disgenet " 6493 LAMC2 "Epidermolysis Bullosa, Junctional" MONDO_0017612 "Disgenet " 6493 LAMC2 "Epidermolysis bullosa letalis" MONDO_0009182 "Disgenet " 6493 LAMC2 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 6494 LAMC3 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 6501 LAMP2 "Danon disease" MONDO:0010281 "ClinGen " 6501 LAMP2 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 6501 LAMP2 Cardiomyopathy MONDO_0004994 "Disgenet " 6501 LAMP2 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 6501 LAMP2 "DANON DISEASE" MONDO_0010281 "Disgenet " 6501 LAMP2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 651 AREG "Cancer, Breast" MONDO_0007254 "Disgenet " 651 AREG "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 651 AREG "Breast Neoplasms" MONDO_0021100 "Disgenet " 651 AREG "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 651 AREG "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 651 AREG Asthma MONDO_0004979 "Disgenet " 651 AREG "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 651 AREG "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 651 AREG "Head and Neck Neoplasms" MONDO_0005586 "Disgenet " 6510 STMN1 Depression MONDO_0002050 "Disgenet " 6510 STMN1 "Depressive neurosis" MONDO_0002050 "Disgenet " 6510 STMN1 Carcinoma MONDO_0004993 "Disgenet " 6510 STMN1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 6510 STMN1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6510 STMN1 Gliomas MONDO_0021042 "Disgenet " 6510 STMN1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6511 LARGE1 "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6" MONDO_0013158 "Disgenet " 6511 LARGE1 "muscular dystrophy-dystroglycanopathy" MONDO:0018276 "ClinGen " 6511 LARGE1 "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 6511 LARGE1 MDDGB6 MONDO_0012138 "Disgenet " 6511 LARGE1 "Walker-Warburg congenital muscular dystrophy" MONDO_0000171 "Disgenet " 6511 LARGE1 alpha-Dystroglycanopathies MONDO_0000171 "Disgenet " 6511 LARGE1 FCMD MONDO_0000171 "Disgenet " 6513 LASP1 "Childhood autism" MONDO_0005260 "Disgenet " 6513 LASP1 Schizophrenias MONDO_0005090 "Disgenet " 6514 LATS1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 6515 LATS2 Astrocytoma MONDO_0019781 "Disgenet " 6515 LATS2 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 6517 LBP Sepsis MONDO_0005229 "Disgenet " 6517 LBP "Syndrome X, Reaven" MONDO_0011565 "Disgenet " 6517 LBP Obesity MONDO_0019182 "Disgenet " 6518 LBR "Greenberg dysplasia" MONDO:0008974 "ClinGen " 6518 LBR "regressive spondylometaphyseal dysplasia" MONDO:0018663 "ClinGen " 6518 LBR PHASK MONDO_0018663 "Disgenet " 6518 LBR "Pelger Huet Anomaly" MONDO_0008214 "Disgenet " 6518 LBR "HEM dysplasia" MONDO_0008974 "Disgenet " 6518 LBR "reynold syndrome" MONDO_0013276 "Disgenet " 652 ARF1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 652 ARF1 "Periventricular neuronal heterotopia" MONDO_0020341 "Disgenet " 652 ARF1 "periventricular nodular heterotopia" MONDO:0020341 "ClinGen " 6522 LCAT "lecithin cholesterol acyltransferase deficiency" MONDO_0018999 "Disgenet " 6522 LCAT "LCAT deficiency" MONDO_0009515 "Disgenet " 6522 LCAT "Corneal Dystrophy, Dyslipoproteinemic" MONDO_0007620 "Disgenet " 6524 LCK "severe combined immunodeficiency due to LCK deficiency" MONDO:0014334 "ClinGen " 6524 LCK "Combined Immunodeficiencies, Severe" MONDO_0015974 "Disgenet " 6524 LCK "IMMUNODEFICIENCY 22" MONDO_0014334 "Disgenet " 6525 LCN1 COPD MONDO_0005002 "Disgenet " 6526 LCN2 Nephropathy MONDO_0005240 "Disgenet " 6526 LCN2 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 6526 LCN2 beta-Thalassemia MONDO_0013517 "Disgenet " 6526 LCN2 "Respiratory Distress Syndrome, Adult" MONDO_0100130 "Disgenet " 6526 LCN2 Schizophrenias MONDO_0005090 "Disgenet " 6526 LCN2 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 6526 LCN2 "Urinary tract infection" MONDO_0100338 "Disgenet " 6526 LCN2 "Acute kidney injury" MONDO_0002492 "Disgenet " 6526 LCN2 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 6529 LCP2 "immunodeficiency 81" MONDO:0030302 "ClinGen " 6530 LCT "Congenital lactase deficiency" MONDO_0009115 "Disgenet " 6530 LCT "Lactose Intolerance" MONDO_0100345 "Disgenet " 6532 LDB1 CRC MONDO_0005335 "Disgenet " 6535 LDHA Depression MONDO_0002050 "Disgenet " 6535 LDHA "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 6535 LDHA GSD11 MONDO_0013047 "Disgenet " 6535 LDHA "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 6541 LDHB "LACTATE DEHYDROGENASE B DEFICIENCY" MONDO_0013587 "Disgenet " 6541 LDHB "Breast Neoplasms" MONDO_0021100 "Disgenet " 6541 LDHB "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6545 COG1 "COG1-congenital disorder of glycosylation" MONDO:0012637 "ClinGen " 6545 COG1 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 6545 COG1 CDG2G MONDO_0012637 "Disgenet " 6546 COG2 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq" MONDO_0054559 "Disgenet " 6546 COG2 "congenital disorder of glycosylation, type IIq" MONDO:0054559 "ClinGen " 6547 LDLR Hyperlipoproteinemia MONDO_0001336 "Disgenet " 6547 LDLR "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 6547 LDLR Arterioscleroses MONDO_0002277 "Disgenet " 6547 LDLR "Cerebrovascular accident" MONDO_0005098 "Disgenet " 6547 LDLR Dyslipidaemia "Disgenet " 6547 LDLR "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 6547 LDLR "Fatty Liver" MONDO_0004790 "Disgenet " 6547 LDLR "Coronary Disease" MONDO_0005010 "Disgenet " 6547 LDLR "Apolipoprotein B 100, Familial Ligand Defective" MONDO_0007751 "Disgenet " 6547 LDLR Obesity MONDO_0019182 "Disgenet " 6547 LDLR "Hyperlipoproteinemia Type III" MONDO_0018473 "Disgenet " 6547 LDLR "Hepatitis C" MONDO_0005231 "Disgenet " 6547 LDLR "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 6547 LDLR "Alzheimer Disease" MONDO_0012630 "Disgenet " 6547 LDLR Hyperlipemias MONDO_0021187 "Disgenet " 6547 LDLR "hypercholesterolemia, familial, 1" MONDO:0007750 "ClinGen " 6547 LDLR "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 6547 LDLR "Autosomal Dominant Hypercholesterolemia" MONDO_0007750 "Disgenet " 6547 LDLR Atherosclerosis MONDO_0005311 "Disgenet " 6547 LDLR "Essential Hypercholesterolemia" MONDO_0005439 "Disgenet " 6547 LDLR "homozygous familial hypercholesterolemia (diagnosis)" MONDO_0018328 "Disgenet " 6547 LDLR Hypercholesteremias "Disgenet " 6551 LEF1 CRC MONDO_0005335 "Disgenet " 6551 LEF1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 6551 LEF1 "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 6551 LEF1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 6551 LEF1 "Neoplasm, Sebaceous Gland" MONDO_0006963 "Disgenet " 6553 LEP "Gastric ulcer" MONDO_0001126 "Disgenet " 6553 LEP "Alcoholic Liver Cirrhosis" MONDO_0006644 "Disgenet " 6553 LEP "Respiratory Distress Syndrome, Adult" MONDO_0100130 "Disgenet " 6553 LEP "Alcohol withdrawal syndrome" MONDO_0005433 "Disgenet " 6553 LEP "Breast Neoplasms" MONDO_0021100 "Disgenet " 6553 LEP "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 6553 LEP "Morbid Obesities" MONDO_0005139 "Disgenet " 6553 LEP "Diabetes, Gestational" MONDO_0005406 "Disgenet " 6553 LEP "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 6553 LEP LEPD MONDO_0013991 "Disgenet " 6553 LEP "High blood pressure" MONDO_0005044 "Disgenet " 6553 LEP Obesity MONDO_0019182 "Disgenet " 6553 LEP "Ovary Syndrome, Polycystic" MONDO_0008487 "Disgenet " 6553 LEP "Syndrome X, Reaven" MONDO_0011565 "Disgenet " 6553 LEP Hyperinsulinism MONDO_0002177 "Disgenet " 6553 LEP "Unspecified nonorganic psychosis" "Disgenet " 6553 LEP "chronic schizophrenia" "Disgenet " 6553 LEP "Autoimmune Hepatitides" MONDO_0016264 "Disgenet " 6553 LEP Schizophrenias MONDO_0005090 "Disgenet " 6553 LEP "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 6553 LEP Hypercholesteremias "Disgenet " 6553 LEP "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 6553 LEP Depression MONDO_0002050 "Disgenet " 6553 LEP Hyperglycemia MONDO_0002909 "Disgenet " 6553 LEP "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6553 LEP "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 6553 LEP "Depressive neurosis" MONDO_0002050 "Disgenet " 6553 LEP "Childhood autism" MONDO_0005260 "Disgenet " 6553 LEP Psychosis MONDO_0005485 "Disgenet " 6553 LEP COPD MONDO_0005002 "Disgenet " 6553 LEP Hypogonadism MONDO_0002146 "Disgenet " 6553 LEP Alcoholism MONDO_0002046 "Disgenet " 6553 LEP Osteoporoses MONDO_0005298 "Disgenet " 6553 LEP "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6553 LEP "Glucose Intolerance" MONDO_0001076 "Disgenet " 6553 LEP "Fatty Liver" MONDO_0004790 "Disgenet " 6553 LEP "Alzheimer Disease" MONDO_0012630 "Disgenet " 6554 LEPR "Diabetes Mellitus" MONDO_0005015 "Disgenet " 6554 LEPR Hyperinsulinism MONDO_0002177 "Disgenet " 6554 LEPR "High blood pressure" MONDO_0005044 "Disgenet " 6554 LEPR "Breast Neoplasms" MONDO_0021100 "Disgenet " 6554 LEPR "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 6554 LEPR "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 6554 LEPR "Obstructive sleep apnea syndrome" MONDO_0007147 "Disgenet " 6554 LEPR "LEPTIN RECEPTOR DEFICIENCY" MONDO_0013992 "Disgenet " 6554 LEPR "Glucose Intolerance" MONDO_0001076 "Disgenet " 6554 LEPR Dyslipidaemia "Disgenet " 6554 LEPR "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 6554 LEPR "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 6554 LEPR Obesity MONDO_0019182 "Disgenet " 6554 LEPR "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 6554 LEPR "Morbid Obesities" MONDO_0005139 "Disgenet " 6554 LEPR "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6554 LEPR Hyperglycemia MONDO_0002909 "Disgenet " 6554 LEPR "Diabetes, Gestational" MONDO_0005406 "Disgenet " 6554 LEPR "Fatty Liver" MONDO_0004790 "Disgenet " 6554 LEPR Osteoporoses MONDO_0005298 "Disgenet " 6554 LEPR Hyperlipemias MONDO_0021187 "Disgenet " 6554 LEPR "Coronary Disease" MONDO_0005010 "Disgenet " 6554 LEPR Nephropathy MONDO_0005240 "Disgenet " 6554 LEPR LEPD MONDO_0013991 "Disgenet " 6554 LEPR COPD MONDO_0005002 "Disgenet " 6556 LETM1 "Deletion of short arm of chromosome 4" MONDO_0008684 "Disgenet " 6560 LFNG SCDO1 MONDO_0010180 "Disgenet " 6560 LFNG SCDO3 MONDO_0012349 "Disgenet " 6561 LGALS1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 6561 LGALS1 Keloid MONDO_0005348 "Disgenet " 6562 LGALS2 "Cancer, Breast" MONDO_0007254 "Disgenet " 6562 LGALS2 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 6563 LGALS3 Melanoma MONDO_0005105 "Disgenet " 6563 LGALS3 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 6563 LGALS3 Asthma MONDO_0004979 "Disgenet " 6563 LGALS3 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 6563 LGALS3 Nephritides MONDO_0001166 "Disgenet " 6563 LGALS3 "Diseases, Vascular" MONDO_0005385 "Disgenet " 6563 LGALS3 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 6563 LGALS3 "ST segment elevation myocardial infarction" MONDO_0041656 "Disgenet " 6564 LGALS3BP "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 6568 LGALS7 Carcinoma MONDO_0004993 "Disgenet " 6568 LGALS7 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 6572 LGI1 Depression MONDO_0002050 "Disgenet " 6572 LGI1 "autosomal dominant epilepsy with auditory features" MONDO:0010898 "ClinGen " 6572 LGI1 "Depressive neurosis" MONDO_0002050 "Disgenet " 6572 LGI1 ADPEAF MONDO_0010898 "Disgenet " 6572 LGI1 "EPILEPSY, FAMILIAL TEMPORAL LOBE, 1" MONDO_0700090 "Disgenet " 6584 LHB "Ovary Syndrome, Polycystic" MONDO_0008487 "Disgenet " 6584 LHB Hypogonadism MONDO_0002146 "Disgenet " 6584 LHB "Isolated lutropin deficiency (disorder)" MONDO_0013961 "Disgenet " 6585 LHCGR "Primary hypogonadism" MONDO_0002146 "Disgenet " 6585 LHCGR "LEYDIG CELL HYPOPLASIA, TYPE II" MONDO_0019155 "Disgenet " 6585 LHCGR "sex development disorder" MONDO_0002145 "Disgenet " 6585 LHCGR "DSDs, 46,XY" MONDO_0020040 "Disgenet " 6585 LHCGR "Infertility, Male" MONDO_0005372 "Disgenet " 6585 LHCGR "PRECOCIOUS PUBERTY, MALE-LIMITED" MONDO_0008303 "Disgenet " 6585 LHCGR "Leydig cell agenesis (diagnosis)" MONDO_0009384 "Disgenet " 6585 LHCGR Testotoxicosis MONDO_0000088 "Disgenet " 6585 LHCGR "Leydig Cell Tumor" MONDO_0006266 "Disgenet " 6585 LHCGR "Cancer, Breast" MONDO_0007254 "Disgenet " 6585 LHCGR "LH Resistance Due To LH Receptor Deactivation" MONDO_0019155 "Disgenet " 6596 LIF "Ovary Syndrome, Polycystic" MONDO_0008487 "Disgenet " 6596 LIF "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 6596 LIF Delirium MONDO_0045057 "Disgenet " 6597 LIFR "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6597 LIFR Schizophrenias MONDO_0005090 "Disgenet " 6597 LIFR CRC MONDO_0005335 "Disgenet " 6597 LIFR SJS2 MONDO_0031280 "Disgenet " 6597 LIFR "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6597 LIFR "obsolete St闁汇€慹-Wiedemann syndrome" MONDO:0011108 "ClinGen " 6597 LIFR Cakut MONDO_0019719 "Disgenet " 6598 LIG1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 6598 LIG1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 6598 LIG1 "Deficiency Syndrome, Immunological" MONDO_0021094 "Disgenet " 6600 LIG3 "MNGIE syndrome (diagnosis)" MONDO_0017575 "Disgenet " 6600 LIG3 "MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE)" MONDO_0030696 "Disgenet " 6601 LIG4 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6601 LIG4 "OMENN SYNDROME" MONDO_0015974 "Disgenet " 6601 LIG4 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 6601 LIG4 "Dubowitz syndrome" MONDO_0009124 "Disgenet " 6601 LIG4 Leukemias MONDO_0005059 "Disgenet " 6601 LIG4 Gliomas MONDO_0021042 "Disgenet " 6601 LIG4 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 6601 LIG4 "LIG4 SYNDROME" MONDO_0011686 "Disgenet " 6601 LIG4 "Combined Immunodeficiencies, Severe" MONDO_0015974 "Disgenet " 6601 LIG4 "Multiple Myeloma" MONDO_0009693 "Disgenet " 6601 LIG4 "DNA ligase IV deficiency" MONDO:0011686 "ClinGen " 6609 LILRB5 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6613 LIMK1 "Syndrome, Williams" MONDO_0008678 "Disgenet " 6617 LIPA "Cholesterol Ester Storage Disease" MONDO_0019149 "Disgenet " 6617 LIPA "Disease, Wolman" MONDO_0019148 "Disgenet " 6617 LIPA "lysosomal acid lipase deficiency" MONDO:0800449 "ClinGen " 6617 LIPA "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 6617 LIPA "Lysosomal acid lipase deficiency" MONDO_0800449 "Disgenet " 6617 LIPA "Coronary Disease" MONDO_0005010 "Disgenet " 6619 LIPC "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 6619 LIPC "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 6619 LIPC "Alzheimer Disease" MONDO_0012630 "Disgenet " 6619 LIPC Hyperlipemias MONDO_0021187 "Disgenet " 6619 LIPC "HEPATIC LIPASE DEFICIENCY" MONDO_0013533 "Disgenet " 6619 LIPC "Combined Hyperlipidemia, Familial" MONDO_0007759 "Disgenet " 6619 LIPC Hyperlipoproteinemia MONDO_0001336 "Disgenet " 6619 LIPC "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 6619 LIPC "Coronary Disease" MONDO_0005010 "Disgenet " 662 ARFRP1 "Cancer, Breast" MONDO_0007254 "Disgenet " 6621 LIPE FPLD6 MONDO_0014431 "Disgenet " 6621 LIPE "High blood pressure" MONDO_0005044 "Disgenet " 6629 LLGL2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 663 ARG1 hyperargininemia MONDO:0008814 "ClinGen " 663 ARG1 Hyperargininemia MONDO_0008814 "Disgenet " 663 ARG1 Asthma MONDO_0004979 "Disgenet " 663 ARG1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6631 LMAN1 MCFD1 MONDO_0009206 "Disgenet " 6631 LMAN1 "factor V and factor VIII, combined deficiency of, type 1" MONDO:0009206 "ClinGen " 6631 LMAN1 "Hemophilia A" MONDO_0010602 "Disgenet " 6631 LMAN1 "FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF" MONDO_0018175 "Disgenet " 6633 LMCD1 "Click-Murmur Syndrome, Mitral" MONDO_0004910 "Disgenet " 6636 LMNA lipodystrophy MONDO:0006573 "ClinGen " 6636 LMNA "arrhythmogenic right ventricular cardiomyopathy" MONDO:0016587 "ClinGen " 6636 LMNA "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 6636 LMNA EDMD2 MONDO_0021569 "Disgenet " 6636 LMNA "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 6636 LMNA "Emery-Dreifuss muscular dystrophy" MONDO_0016830 "Disgenet " 6636 LMNA "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 6636 LMNA "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1" MONDO_0011569 "Disgenet " 6636 LMNA "Koberling Dunnigan Syndrome" MONDO_0020088 "Disgenet " 6636 LMNA "LMNA Associated Diseases" MONDO_0021106 "Disgenet " 6636 LMNA "LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2" MONDO_0020088 "Disgenet " 6636 LMNA CMD1A MONDO_0005021 "Disgenet " 6636 LMNA Lipodystrophies MONDO_0006573 "Disgenet " 6636 LMNA "Hutchinson Gilford Syndrome" MONDO_0008310 "Disgenet " 6636 LMNA Cardiomyopathy MONDO_0004994 "Disgenet " 6636 LMNA "MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED" MONDO_0013178 "Disgenet " 6636 LMNA "Congenital muscular dystrophy" MONDO_0019950 "Disgenet " 6636 LMNA "Muscular dystrophy, proximal, type 1B" MONDO_0021569 "Disgenet " 6636 LMNA "Atypical Werner syndrome" MONDO_0019321 "Disgenet " 6636 LMNA "Cardiogenital syndrome" MONDO_0008915 "Disgenet " 6636 LMNA "Ventricular tachycardia" MONDO_0013529 "Disgenet " 6636 LMNA "Neuromuscular Disease" MONDO_0019056 "Disgenet " 6636 LMNA "Ovary Syndrome, Polycystic" MONDO_0008487 "Disgenet " 6636 LMNA "Werner Syndrome" MONDO_0010196 "Disgenet " 6636 LMNA "Blocks, Heart" MONDO_0008848 "Disgenet " 6636 LMNA "Muscular Dystrophy, Emery-Dreifuss, Autosomal Recessive" MONDO_0016830 "Disgenet " 6636 LMNA "Abnormalities, Craniofacial" "Disgenet " 6636 LMNA "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 6636 LMNA "MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY" MONDO_0016584 "Disgenet " 6636 LMNA "Congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome" MONDO_0008915 "Disgenet " 6636 LMNA "limb girdle muscular dystrophy" MONDO_0016971 "Disgenet " 6636 LMNA "Monogenic diabetes" MONDO_0015967 "Disgenet " 6636 LMNA "Peripheral neuropathy" MONDO_0005244 "Disgenet " 6636 LMNA "Left ventricular noncompaction" MONDO_0018901 "Disgenet " 6636 LMNA "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 6636 LMNA AR-CMT2 "Disgenet " 6636 LMNA "Long QT Syndrome" MONDO_0002442 "Disgenet " 6636 LMNA "Arrhythmogenic right ventricular dysplasia" MONDO_0016587 "Disgenet " 6636 LMNA "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 6636 LMNA "Charcot Marie Disease" MONDO_0011687 "Disgenet " 6636 LMNA "Lethal tight skin contracture syndrome (disorder)" MONDO_0031213 "Disgenet " 6636 LMNA "Familial dilated cardiomyopathy" MONDO_0016333 "Disgenet " 6636 LMNA "Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive" MONDO_0014676 "Disgenet " 6636 LMNA "Disease, Metabolic" MONDO_0005066 "Disgenet " 6636 LMNA "Mandibuloacral dysostosis" MONDO_0016584 "Disgenet " 6636 LMNA "Atrioventricular block" MONDO_0000465 "Disgenet " 6637 LMNB1 "LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT" MONDO_0008215 "Disgenet " 6637 LMNB1 "Adult onset autosomal dominant leukodystrophy (disorder)" MONDO_0008215 "Disgenet " 6637 LMNB1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 6638 LMNB2 CRC MONDO_0005335 "Disgenet " 6638 LMNB2 EPM9 MONDO_0014685 "Disgenet " 6638 LMNB2 "Acquired partial lipodystrophy" MONDO_0012104 "Disgenet " 6638 LMNB2 "acquired partial lipodystrophy" MONDO_0027767 "Disgenet " 6638 LMNB2 "Epilepsies, Progressive Myoclonic" MONDO_0020074 "Disgenet " 664 ARG2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 664 ARG2 Asthma MONDO_0004979 "Disgenet " 6642 LMO2 "Leukemia, T Cell" MONDO_0004963 "Disgenet " 6645 PRICKLE3 "Leber's optic atrophy" MONDO_0010788 "Disgenet " 6647 LMOD1 "Berdon syndrome" MONDO_0100354 "Disgenet " 6654 LMX1B Nephropathy MONDO_0005240 "Disgenet " 6654 LMX1B Schizophrenias MONDO_0005090 "Disgenet " 6654 LMX1B "Nail Patella Syndrome" MONDO_0008800 "Disgenet " 6654 LMX1B "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 6654 LMX1B "nail-patella syndrome" MONDO:0008061 "ClinGen " 6654 LMX1B Clubfoot MONDO_0007342 "Disgenet " 6654 LMX1B "Nail patella like renal disease" MONDO_0009724 "Disgenet " 6664 LOX "Aortic Aneurysm, Thoracic" MONDO_0005396 "Disgenet " 6664 LOX "Cutis Laxa" MONDO_0007411 "Disgenet " 6664 LOX Emphysema MONDO_0004849 "Disgenet " 6664 LOX "Connective Tissue Diseases" MONDO_0003900 "Disgenet " 6664 LOX "Fibroses, Oral Submucous" MONDO_0018166 "Disgenet " 6664 LOX "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 6664 LOX "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 6664 LOX "High blood pressure" MONDO_0005044 "Disgenet " 6664 LOX "Menkes' syndrome" MONDO_0010651 "Disgenet " 6664 LOX "Ehlers Danlos Syndrome" MONDO_0020066 "Disgenet " 6664 LOX "familial thoracic aortic aneurysm and aortic dissection" MONDO:0019625 "ClinGen " 6665 LOXL1 "Primary open-angle glaucoma" MONDO_0100553 "Disgenet " 6665 LOXL1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 6665 LOXL1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 6665 LOXL1 "Exfoliation Syndrome" MONDO_0100046 "Disgenet " 6666 LOXL2 "Hepatitis C" MONDO_0005231 "Disgenet " 6666 LOXL2 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 6666 LOXL2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 667 RHOA "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 667 RHOA "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 667 RHOA "Angioimmunoblastic Lymphadenopathies" MONDO_0004977 "Disgenet " 667 RHOA "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 667 RHOA "Breast Neoplasms" MONDO_0021100 "Disgenet " 667 RHOA "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 667 RHOA "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 667 RHOA Epithelioma MONDO_0004993 "Disgenet " 667 RHOA Hypopigmentation MONDO_0019290 "Disgenet " 667 RHOA "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 667 RHOA "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 667 RHOA "Lymphoma, T Cell" MONDO_0015760 "Disgenet " 667 RHOA "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 667 RHOA "CARCINOMA OF ESOPHAGUS" MONDO_0007576 "Disgenet " 667 RHOA Carcinoma MONDO_0004993 "Disgenet " 667 RHOA "Lymphoma, Peripheral T-Cell" MONDO_0004964 "Disgenet " 6677 LPL Myopathy MONDO_0003939 "Disgenet " 6677 LPL Schizophrenias MONDO_0005090 "Disgenet " 6677 LPL "Hepatitis C" MONDO_0005231 "Disgenet " 6677 LPL Carcinoma MONDO_0004993 "Disgenet " 6677 LPL "Essential Hypercholesterolemia" MONDO_0005439 "Disgenet " 6677 LPL "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6677 LPL Pancreatitis MONDO_0004982 "Disgenet " 6677 LPL "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 6677 LPL Hypertriglyceridemia MONDO_0005347 "Disgenet " 6677 LPL Hyperlipemias MONDO_0021187 "Disgenet " 6677 LPL "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 6677 LPL Hyperchylomicronemia MONDO_0009387 "Disgenet " 6677 LPL "Alzheimer Disease" MONDO_0012630 "Disgenet " 6677 LPL "High blood pressure" MONDO_0005044 "Disgenet " 6677 LPL Dyslipidaemia "Disgenet " 6677 LPL "Combined Hyperlipidemia, Familial" MONDO_0007759 "Disgenet " 6677 LPL Hyperlipoproteinemia MONDO_0001336 "Disgenet " 6677 LPL Cardiomyopathy MONDO_0004994 "Disgenet " 6677 LPL "LIPASE DEFICIENCY, COMBINED" MONDO_0009527 "Disgenet " 6677 LPL Hypercholesteremias "Disgenet " 6677 LPL "Coronary Disease" MONDO_0005010 "Disgenet " 6677 LPL Obesity MONDO_0019182 "Disgenet " 6677 LPL "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 6677 LPL "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 6677 LPL "Cardiovascular Disease" MONDO_0004995 "Disgenet " 668 RHOB "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 6685 LRAT "Leber congenital amaurosis" MONDO_0018998 "Disgenet " 6685 LRAT "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 6685 LRAT "LEBER CONGENITAL AMAUROSIS 14" MONDO_0013231 "Disgenet " 6685 LRAT "Retinal dystrophy" MONDO_0019118 "Disgenet " 6685 LRAT "RETINAL DYSTROPHY, EARLY-ONSET SEVERE" MONDO_0009549 "Disgenet " 6685 LRAT "Autosomal recessive retinitis pigmentosa" "Disgenet " 6692 LRP1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 6692 LRP1 "Ulerythema ophryogenes with multiple congenital anomalies" MONDO_0018855 "Disgenet " 6692 LRP1 "MIGRAINE HEADACHE" MONDO_0005277 "Disgenet " 6692 LRP1 CRC MONDO_0005335 "Disgenet " 6692 LRP1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 6692 LRP1 Schizophrenias MONDO_0005090 "Disgenet " 6692 LRP1 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 6692 LRP1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 6694 LRP2 "Severe myopia (> -6.00 diopters)" "Disgenet " 6694 LRP2 "congenital heart disease" MONDO:0005453 "ClinGen " 6694 LRP2 "Deficiencies, Vitamin D" MONDO_0100471 "Disgenet " 6694 LRP2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6694 LRP2 "Autoimmune Thyroiditides" MONDO_0007699 "Disgenet " 6694 LRP2 Schizophrenias MONDO_0005090 "Disgenet " 6694 LRP2 "Acute kidney injury" MONDO_0002492 "Disgenet " 6694 LRP2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 6694 LRP2 Nephropathy MONDO_0005240 "Disgenet " 6694 LRP2 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 6694 LRP2 "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 6694 LRP2 "Retinal dystrophy" MONDO_0019118 "Disgenet " 6694 LRP2 "DONNAI-BARROW SYNDROME" MONDO_0009104 "Disgenet " 6696 LRP4 "Syndactyly type 7" MONDO_0008931 "Disgenet " 6696 LRP4 Syndactyly MONDO_0000151 "Disgenet " 6696 LRP4 Sclerosteosis MONDO_0017838 "Disgenet " 6696 LRP4 CMS17 MONDO_0014578 "Disgenet " 6696 LRP4 "SCLEROSTEOSIS 2" MONDO_0013679 "Disgenet " 6696 LRP4 "CONGEN MYASTHENIA GRAVIS" MONDO_0018940 "Disgenet " 6696 LRP4 "Cenani-Lenz syndactyly syndrome" MONDO:0008931 "ClinGen " 6696 LRP4 "congenital myasthenic syndrome 17" MONDO:0014578 "ClinGen " 6697 LRP5 "LRP5-related exudative vitreoretinopathy" MONDO:0700228 "ClinGen " 6697 LRP5 "Worth disease" MONDO_0007764 "Disgenet " 6697 LRP5 OPTA1 MONDO_0020645 "Disgenet " 6697 LRP5 "Familial exudative vitreoretinopathy" MONDO_0019516 "Disgenet " 6697 LRP5 Osteopenia "Disgenet " 6697 LRP5 "Polycystic Kidney, Autosomal Dominant" MONDO_0004691 "Disgenet " 6697 LRP5 "Isolated polycystic liver disease" MONDO_0000447 "Disgenet " 6697 LRP5 "Van Buchem disease" MONDO_0005516 "Disgenet " 6697 LRP5 Osteoporoses MONDO_0005298 "Disgenet " 6697 LRP5 "OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME" MONDO_0009820 "Disgenet " 6697 LRP5 "EXUDATIVE VITREORETINOPATHY 4" MONDO_0011151 "Disgenet " 6697 LRP5 "EXUDATIVE VITREORETINOPATHY 1" MONDO_0019516 "Disgenet " 6697 LRP5 "Polycystic kidney" MONDO_0020642 "Disgenet " 6697 LRP5 Microphthalmos MONDO_0021129 "Disgenet " 6697 LRP5 "Idiopathic osteoporosis" MONDO_0019409 "Disgenet " 6697 LRP5 "Fibroplasias, Retrolental" MONDO_0006952 "Disgenet " 6697 LRP5 Osteoscleroses MONDO_0002933 "Disgenet " 6698 LRP6 "Triple-Negative Breast Cancers" MONDO_0005494 "Disgenet " 6698 LRP6 "Failure of development of some teeth" "Disgenet " 6698 LRP6 Oligodontia MONDO_0008797 "Disgenet " 67 ABCD3 "BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5" MONDO_0014564 "Disgenet " 67 ABCD3 "congenital bile acid synthesis defect 5" MONDO:0014564 "ClinGen " 67 ABCD3 "Zellweger Syndrome" MONDO_0019609 "Disgenet " 67 ABCD3 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 6700 LRP8 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 6700 LRP8 Schizophrenias MONDO_0005090 "Disgenet " 6700 LRP8 "Alzheimer Disease" MONDO_0012630 "Disgenet " 6700 LRP8 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 6701 LRPAP1 Nearsightedness MONDO_0001384 "Disgenet " 6705 LSAMP "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 6705 LSAMP "Depressions, Unipolar" MONDO_0002050 "Disgenet " 6705 LSAMP Schizophrenias MONDO_0005090 "Disgenet " 6707 LSP1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 6708 LSS "Neuroectodermosis with alopecia or hypotrichosis" MONDO_0008756 "Disgenet " 6708 LSS "Hypotrichosis simplex" MONDO_0018914 "Disgenet " 6708 LSS APMR4 MONDO_0030009 "Disgenet " 6708 LSS "Congenital cataract" MONDO_0008925 "Disgenet " 6708 LSS "HYPOTRICHOSIS 14" MONDO_0032649 "Disgenet " 6708 LSS "CATARACT 44" MONDO_0014673 "Disgenet " 6709 LTA Sepsis MONDO_0005229 "Disgenet " 6709 LTA "Cancer, Breast" MONDO_0007254 "Disgenet " 6709 LTA Psoriases MONDO_0005083 "Disgenet " 6709 LTA Asthma MONDO_0004979 "Disgenet " 6709 LTA "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 6709 LTA "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 6709 LTA "Cystic Fibrosis" MONDO_0009061 "Disgenet " 6709 LTA Schizophrenias MONDO_0005090 "Disgenet " 6709 LTA "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 6709 LTA "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 6709 LTA "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 6709 LTA "Respiratory Distress Syndrome, Adult" MONDO_0100130 "Disgenet " 6709 LTA "GRAVES DISEASE" MONDO_0005364 "Disgenet " 6709 LTA "Cerebral Infarction" MONDO_0002679 "Disgenet " 6709 LTA "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 6709 LTA "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 6709 LTA "Proliferative Vitreoretinopathies" MONDO_0100450 "Disgenet " 6709 LTA "Arthritic Psoriasis" MONDO_0011849 "Disgenet " 6709 LTA "Kala Azar" MONDO_0005445 "Disgenet " 6709 LTA "Coronary Disease" MONDO_0005010 "Disgenet " 671 RND3 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6710 LTA4H Atherosclerosis MONDO_0005311 "Disgenet " 6715 LTBP2 "glaucoma 3, primary congenital, D" MONDO:0013122 "ClinGen " 6715 LTBP2 Hydrophthalmos MONDO_0009277 "Disgenet " 6715 LTBP2 "Exfoliation Syndrome" MONDO_0100046 "Disgenet " 6715 LTBP2 "Juvenile glaucoma" MONDO_0020367 "Disgenet " 6715 LTBP2 Microspherophakia "Disgenet " 6715 LTBP2 Glaucomas MONDO_0005041 "Disgenet " 6715 LTBP2 "Weill-Marchesani syndrome" MONDO_0018096 "Disgenet " 6715 LTBP2 "Primary congenital glaucoma" MONDO_0000365 "Disgenet " 6716 LTBP3 "Amelogenesis Imperfecta" MONDO_0007092 "Disgenet " 6716 LTBP3 "Platyspondyly with amelogenesis imperfecta" MONDO_0011018 "Disgenet " 6716 LTBP3 Brachyolmia MONDO_0015262 "Disgenet " 6716 LTBP3 "geleophysic dysplasia" MONDO_0007055 "Disgenet " 6716 LTBP3 "ACROMICRIC DYSPLASIA" MONDO_0007055 "Disgenet " 6716 LTBP3 "GELEOPHYSIC DYSPLASIA 3" MONDO_0054722 "Disgenet " 6717 LTBP4 "Muscular Dystrophy, Duchenne" MONDO_0010679 "Disgenet " 6717 LTBP4 URDS MONDO_0013170 "Disgenet " 6717 LTBP4 "Cutis Laxa" MONDO_0007411 "Disgenet " 672 RHOG "hemophagocytic lymphohistiocytosis due to RhoG deficiency" MONDO:0800147 "ClinGen " 6720 LTF "Renal cell carcinoma" MONDO_0005549 "Disgenet " 6720 LTF "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 6720 LTF Osteoporoses MONDO_0005298 "Disgenet " 6720 LTF "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 6720 LTF "High blood pressure" MONDO_0005044 "Disgenet " 6720 LTF "Ulcerative colitis" MONDO_0005101 "Disgenet " 6720 LTF "Enterocolitis, Necrotizing" MONDO_0004639 "Disgenet " 6720 LTF Candidiases MONDO_0002026 "Disgenet " 6720 LTF "Arthropathy associated with infections" MONDO_0006816 "Disgenet " 6720 LTF Endometrioses MONDO_0005133 "Disgenet " 6724 LUM "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 6724 LUM "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 6724 LUM "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 673 ARHGAP1 Schizophrenias MONDO_0005090 "Disgenet " 6734 LYL1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 6740 LYZ "AMYLOIDOSIS, FAMILIAL VISCERAL" MONDO_0007099 "Disgenet " 6740 LYZ "ALys amyloidosis" MONDO_0019732 "Disgenet " 6741 LZTFL1 "LZTFL1-related ciliopathy" MONDO:1040046 "ClinGen " 6741 LZTFL1 "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 6741 LZTFL1 "BARDET-BIEDL SYNDROME 17" MONDO_0014445 "Disgenet " 6741 LZTFL1 "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 6742 LZTR1 "NOONAN SYNDROME 10" MONDO_0014693 "Disgenet " 6742 LZTR1 "Bladder Exstrophies" MONDO_0010805 "Disgenet " 6742 LZTR1 Neurinomatosis MONDO_0008075 "Disgenet " 6742 LZTR1 "NOONAN SYNDROME 2" MONDO_0011531 "Disgenet " 6742 LZTR1 Neurilemmoma MONDO_0002546 "Disgenet " 6742 LZTR1 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 6742 LZTR1 RASopathy MONDO_0021060 "Disgenet " 6742 LZTR1 Glioblastoma MONDO_0018177 "Disgenet " 6742 LZTR1 "Noonan Syndrome" MONDO_0018997 "Disgenet " 6742 LZTR1 "Noonan syndrome" MONDO:0018997 "ClinGen " 6742 LZTR1 "Noonan syndrome" MONDO:0018997 "ClinGen " 6743 CAPRIN1 "Autistic behaviors" "Disgenet " 675 ARHGAP5 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 6757 MAB21L1 "cerebellar, ocular, craniofacial, and genital syndrome" MONDO:0032774 "ClinGen " 6757 MAB21L1 "CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME" MONDO_0032774 "Disgenet " 6759 MARCKS "Lung Neoplasm" MONDO_0002732 "Disgenet " 6764 MAD2L2 "FANCONI ANEMIA, COMPLEMENTATION GROUP V" MONDO_0014985 "Disgenet " 6765 MADCAM1 Colitides MONDO_0005534 "Disgenet " 6767 SMAD1 "Pulmonary arterial hypertension" MONDO_0015924 "Disgenet " 6767 SMAD1 "congenital heart disease" MONDO:0005453 "ClinGen " 6767 SMAD1 "pulmonary arterial hypertension" MONDO:0015924 "ClinGen " 6767 SMAD1 "congenital heart disorder" MONDO_0005453 "Disgenet " 6768 SMAD2 "congenital heart disease" MONDO:0005453 "ClinGen " 6768 SMAD2 "Malignant neoplasm of cervix uteri" MONDO_0002974 "Disgenet " 6768 SMAD2 "congenital heart disorder" MONDO_0005453 "Disgenet " 6768 SMAD2 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 6768 SMAD2 "Loeys-Dietz Syndrome" MONDO_0018954 "Disgenet " 6768 SMAD2 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 6768 SMAD2 CRC MONDO_0005335 "Disgenet " 6768 SMAD2 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 6769 SMAD3 "aneurysm-osteoarthritis syndrome" MONDO:0013426 "ClinGen " 6769 SMAD3 "familial thoracic aortic aneurysm and aortic dissection" MONDO:0019625 "ClinGen " 6769 SMAD3 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 6769 SMAD3 Coxarthroses MONDO_0006629 "Disgenet " 6769 SMAD3 "Dissection of aorta" "Disgenet " 6769 SMAD3 "Connective Tissue Diseases" MONDO_0003900 "Disgenet " 6769 SMAD3 "AORTIC ANEURYSM, FAMILIAL THORACIC 1" MONDO_0024559 "Disgenet " 6769 SMAD3 "Cancer, Lung" MONDO_0008903 "Disgenet " 6769 SMAD3 "Loeys-Dietz Syndrome" MONDO_0018954 "Disgenet " 6769 SMAD3 LDS3 MONDO_0013426 "Disgenet " 6769 SMAD3 CRC MONDO_0005335 "Disgenet " 6769 SMAD3 "Aneurysms, Aortic" MONDO_0005160 "Disgenet " 6769 SMAD3 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 6769 SMAD3 "ANEURYSMS-OSTEOARTHRITIS SYNDROME" MONDO_0013426 "Disgenet " 6770 SMAD4 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 6770 SMAD4 "Cancer, Lung" MONDO_0008903 "Disgenet " 6770 SMAD4 Cholangiocarcinoma MONDO_0019087 "Disgenet " 6770 SMAD4 "Breast cancer (ductal)" MONDO_0004953 "Disgenet " 6770 SMAD4 "adenocarcinoma of esophagus (diagnosis)" MONDO_0005028 "Disgenet " 6770 SMAD4 "Pulmonary arterial hypertension" MONDO_0015924 "Disgenet " 6770 SMAD4 "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 6770 SMAD4 "juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome" MONDO:0008278 "ClinGen " 6770 SMAD4 "Myhre syndrome" MONDO:0007688 "ClinGen " 6770 SMAD4 "pulmonary arterial hypertension" MONDO:0015924 "ClinGen " 6770 SMAD4 "Malignant gastrointestinal tract tumors" MONDO_0002516 "Disgenet " 6770 SMAD4 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 6770 SMAD4 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 6770 SMAD4 "Gastrointestinal Neoplasm" MONDO_0002516 "Disgenet " 6770 SMAD4 "Pancreatic adenocarcinoma" MONDO_0006047 "Disgenet " 6770 SMAD4 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 6770 SMAD4 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 6770 SMAD4 "Malignant neoplasm of gallbladder" MONDO_0005411 "Disgenet " 6770 SMAD4 "Hereditary Pancreatic Carcinoma" MONDO_0015278 "Disgenet " 6770 SMAD4 "Carcinomas, Infiltrating Duct" MONDO_0005590 "Disgenet " 6770 SMAD4 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 6770 SMAD4 "Pancreatic carcinoma" MONDO_0005192 "Disgenet " 6770 SMAD4 CRC MONDO_0005335 "Disgenet " 6770 SMAD4 "Breast Neoplasms" MONDO_0021100 "Disgenet " 6770 SMAD4 "JUVENILE POLYPOSIS COLI" MONDO_0008276 "Disgenet " 6770 SMAD4 "JUVENILE POLYPOSIS OF STOMACH" MONDO_0008276 "Disgenet " 6770 SMAD4 "CARCINOMA OF ESOPHAGUS" MONDO_0007576 "Disgenet " 6770 SMAD4 "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 6770 SMAD4 "adenocarcinoma of prostate gland" MONDO_0005082 "Disgenet " 6770 SMAD4 "Aortic Disease" MONDO_0005561 "Disgenet " 6770 SMAD4 "Lynch Syndrome" MONDO_0005835 "Disgenet " 6770 SMAD4 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 6770 SMAD4 "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 6770 SMAD4 Nephroblastoma MONDO_0019004 "Disgenet " 6770 SMAD4 Seminoma MONDO_0003669 "Disgenet " 6770 SMAD4 "Growth-mental deficiency syndrome of Myhre" MONDO_0007688 "Disgenet " 6770 SMAD4 JPS MONDO_0017380 "Disgenet " 6770 SMAD4 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 6770 SMAD4 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 6770 SMAD4 JPHT MONDO_0008278 "Disgenet " 6770 SMAD4 "Hereditary hemorrhagic telangiectasia" MONDO_0019180 "Disgenet " 6771 SMAD5 Schizophrenias MONDO_0005090 "Disgenet " 6771 SMAD5 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 6772 SMAD6 "Radioulnar synostosis" MONDO_0017985 "Disgenet " 6772 SMAD6 "Bicuspid aortic valve" MONDO_0007194 "Disgenet " 6772 SMAD6 "Aortic Aneurysm, Thoracic" MONDO_0005396 "Disgenet " 6772 SMAD6 Craniosynostosis MONDO_0015469 "Disgenet " 6772 SMAD6 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 6772 SMAD6 AOVD2 MONDO_0013902 "Disgenet " 6772 SMAD6 "CRS7, DIGENIC" MONDO_0044315 "Disgenet " 6773 SMAD7 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 6773 SMAD7 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 6773 SMAD7 "congenital heart disease" MONDO:0005453 "ClinGen " 6774 SMAD9 "pulmonary arterial hypertension" MONDO:0015924 "ClinGen " 6774 SMAD9 "Pulmonary arterial hypertension" MONDO_0015924 "Disgenet " 6774 SMAD9 "Familial primary pulmonary hypertension" MONDO_0001999 "Disgenet " 6776 MAF "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 6776 MAF "Brachycephaly, deafness, cataract and mental retardation" MONDO_0011049 "Disgenet " 6776 MAF CCA1 MONDO_0020374 "Disgenet " 6776 MAF CCA4 MONDO_0012437 "Disgenet " 6776 MAF "Congenital cataract" MONDO_0008925 "Disgenet " 6776 MAF "Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation" MONDO_0010992 "Disgenet " 678 ARHGDIA "Chronic renal disease" MONDO_0005300 "Disgenet " 678 ARHGDIA "Breast Neoplasms" MONDO_0021100 "Disgenet " 6783 MAG Schizophrenias MONDO_0005090 "Disgenet " 6783 MAG "complex hereditary spastic paraplegia" MONDO:0015150 "ClinGen " 6783 MAG "SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE" MONDO_0014729 "Disgenet " 6783 MAG "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 68 ABCD4 MAHCJ MONDO_0013925 "Disgenet " 68 ABCD4 "Deficiencies, Vitamin B12" MONDO_0000424 "Disgenet " 68 ABCD4 "methylmalonic acidemia with homocystinuria, type cblJ" MONDO:0013925 "ClinGen " 681 ARHGEF1 IMD62 MONDO_0032763 "Disgenet " 681 ARHGEF1 "immunodeficiency 62" MONDO:0032763 "ClinGen " 6814 MAGEL2 "Schaaf-Yang syndrome" MONDO:0014243 "ClinGen " 6814 MAGEL2 "Childhood autism" MONDO_0005260 "Disgenet " 6814 MAGEL2 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 6814 MAGEL2 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 6814 MAGEL2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 6814 MAGEL2 PWLS MONDO_0014243 "Disgenet " 6814 MAGEL2 "Prader Willi Syndrome" MONDO_0008300 "Disgenet " 6814 MAGEL2 "Prader-Willi-like syndrome" MONDO_0014243 "Disgenet " 6816 MAK "MAK-related retinopathy" MONDO:0700229 "ClinGen " 6816 MAK "RETINITIS PIGMENTOSA 62" MONDO_0013611 "Disgenet " 6816 MAK "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 6817 MAL "Breast Neoplasms" MONDO_0021100 "Disgenet " 6817 MAL "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 6819 MALT1 IMD12 MONDO_0014197 "Disgenet " 6819 MALT1 "lymphoid neoplasm" MONDO_0005157 "Disgenet " 6819 MALT1 "Familial primary gastric lymphoma" MONDO_0007650 "Disgenet " 6819 MALT1 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 6819 MALT1 "combined immunodeficiency due to MALT1 deficiency" MONDO:0014197 "ClinGen " 6819 MALT1 Lymphomas MONDO_0005062 "Disgenet " 6823 MAN1B1 CDG2U MONDO_0013624 "Disgenet " 6823 MAN1B1 "MAN1B1-congenital disorder of glycosylation" MONDO:0018349 "ClinGen " 6823 MAN1B1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 6826 MAN2B1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 6826 MAN2B1 "MANNOSIDOSIS, ALPHA B, LYSOSOMAL" MONDO_0009561 "Disgenet " 6826 MAN2B1 alpha-mannosidosis MONDO:0009561 "ClinGen " 6827 MAN2C1 "congenital disorder of deglycosylation 2" MONDO:0030770 "ClinGen " 6831 MANBA beta-mannosidosis MONDO:0009562 "ClinGen " 6831 MANBA "MANNOSIDOSIS, BETA A, LYSOSOMAL" MONDO_0009562 "Disgenet " 6833 MAOA "BRUNNER SYNDROME" MONDO_0010379 "Disgenet " 6833 MAOA "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 6833 MAOA "Alzheimer Disease" MONDO_0012630 "Disgenet " 6833 MAOA "Abuse, Alcohol" MONDO_0002046 "Disgenet " 6833 MAOA "Bipolar Disorders" MONDO_0004985 "Disgenet " 6833 MAOA Psychosis MONDO_0005485 "Disgenet " 6833 MAOA "Childhood autism" MONDO_0005260 "Disgenet " 6833 MAOA "Chorea, Huntington" MONDO_0011671 "Disgenet " 6833 MAOA "clinical depression" "Disgenet " 6833 MAOA "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 6833 MAOA "Brunner syndrome" MONDO:0010379 "ClinGen " 6833 MAOA Pheochromocytoma MONDO_0008233 "Disgenet " 6833 MAOA "Cancer, Breast" MONDO_0007254 "Disgenet " 6833 MAOA "severe major depressive disorder with psychotic features" "Disgenet " 6833 MAOA "treatment resistant depression" "Disgenet " 6833 MAOA "Depressive neurosis" MONDO_0002050 "Disgenet " 6833 MAOA "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 6833 MAOA "Parkinson Disease" MONDO_0014796 "Disgenet " 6833 MAOA Depression MONDO_0002050 "Disgenet " 6833 MAOA "Affective Disorders" MONDO_0005371 "Disgenet " 6833 MAOA "Attention Deficit Disorder with Hyperactivity" MONDO_0100518 "Disgenet " 6833 MAOA Alcoholism MONDO_0002046 "Disgenet " 6833 MAOA Schizophrenias MONDO_0005090 "Disgenet " 6833 MAOA "Disorders, Panic" MONDO_0005383 "Disgenet " 6833 MAOA "Antisocial Personalities" MONDO_0001164 "Disgenet " 6833 MAOA "Depressions, Unipolar" MONDO_0002050 "Disgenet " 6833 MAOA "Mental Disorder" MONDO_0005084 "Disgenet " 6834 MAOB "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 6834 MAOB Schizophrenias MONDO_0005090 "Disgenet " 6834 MAOB "Affective Disorders" MONDO_0005371 "Disgenet " 6834 MAOB "Bipolar Disorders" MONDO_0004985 "Disgenet " 6834 MAOB "Parkinson Disease" MONDO_0014796 "Disgenet " 6834 MAOB "Alzheimer Disease" MONDO_0012630 "Disgenet " 6834 MAOB Alcoholism MONDO_0002046 "Disgenet " 6834 MAOB Depression MONDO_0002050 "Disgenet " 6834 MAOB "Depressive neurosis" MONDO_0002050 "Disgenet " 6834 MAOB "Childhood autism" MONDO_0005260 "Disgenet " 6834 MAOB "Depressions, Unipolar" MONDO_0002050 "Disgenet " 6836 MAP1B "Periventricular neuronal heterotopia" MONDO_0020341 "Disgenet " 6836 MAP1B "Attention Deficit Disorder with Hyperactivity" MONDO_0100518 "Disgenet " 6836 MAP1B "periventricular nodular heterotopia" MONDO:0020341 "ClinGen " 6838 MAP1LC3A Glioblastoma MONDO_0018177 "Disgenet " 6839 MAP2 "Affective Disorders" MONDO_0005371 "Disgenet " 6839 MAP2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 6839 MAP2 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 6839 MAP2 "Lewy Body Disease" MONDO_0007488 "Disgenet " 6839 MAP2 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 6839 MAP2 "Parkinson Disease" MONDO_0014796 "Disgenet " 6840 MAP2K1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 6840 MAP2K1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 6840 MAP2K1 "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 6840 MAP2K1 "Malignant melanoma of skin" MONDO_0005012 "Disgenet " 6840 MAP2K1 "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 6840 MAP2K1 "multiple lentigines syndrome" MONDO_0007893 "Disgenet " 6840 MAP2K1 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 6840 MAP2K1 "Noonan syndrome" MONDO:0018997 "ClinGen " 6840 MAP2K1 "Costello syndrome" MONDO:0009026 "ClinGen " 6840 MAP2K1 "Noonan syndrome with multiple lentigines" MONDO:0007893 "ClinGen " 6840 MAP2K1 "cardiofaciocutaneous syndrome" MONDO:0015280 "ClinGen " 6840 MAP2K1 "CARDIOFACIOCUTANEOUS SYNDROME 3" MONDO_0014113 "Disgenet " 6840 MAP2K1 Melorheostoses MONDO_0007970 "Disgenet " 6840 MAP2K1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 6840 MAP2K1 Melanoma MONDO_0005105 "Disgenet " 6840 MAP2K1 "Noonan Syndrome" MONDO_0018997 "Disgenet " 6840 MAP2K1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 6840 MAP2K1 "Cardiofaciocutaneous Syndrome" MONDO_0007265 "Disgenet " 6840 MAP2K1 Gliomas MONDO_0021042 "Disgenet " 6840 MAP2K1 "Vascular anomaly" MONDO_0024291 "Disgenet " 6840 MAP2K1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 6840 MAP2K1 "COSTELLO SYNDROME" MONDO_0009026 "Disgenet " 6840 MAP2K1 RASopathy MONDO_0021060 "Disgenet " 6840 MAP2K1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 6840 MAP2K1 "Granulomatosis, Langerhans-Cell" MONDO_0018310 "Disgenet " 6840 MAP2K1 "Hairy Cell Leukemias" MONDO_0018935 "Disgenet " 6840 MAP2K1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6842 MAP2K2 "Noonan syndrome" MONDO:0018997 "ClinGen " 6842 MAP2K2 "cardiofaciocutaneous syndrome" MONDO:0015280 "ClinGen " 6842 MAP2K2 CFC4 MONDO_0014114 "Disgenet " 6842 MAP2K2 "COSTELLO SYNDROME" MONDO_0009026 "Disgenet " 6842 MAP2K2 RASopathy MONDO_0021060 "Disgenet " 6842 MAP2K2 Melanoma MONDO_0005105 "Disgenet " 6842 MAP2K2 "Cardiofaciocutaneous Syndrome" MONDO_0007265 "Disgenet " 6842 MAP2K2 "Noonan Syndrome" MONDO_0018997 "Disgenet " 6844 MAP2K4 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 6844 MAP2K4 "Ovarian Serous Adenocarcinoma" MONDO_0005211 "Disgenet " 6844 MAP2K4 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 6844 MAP2K4 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 6845 MAP2K5 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6846 MAP2K6 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6846 MAP2K6 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 6847 MAP2K7 "Lung Neoplasm" MONDO_0002732 "Disgenet " 6847 MAP2K7 "Breast Neoplasms" MONDO_0021100 "Disgenet " 6847 MAP2K7 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 6847 MAP2K7 "CARCINOMA OF LUNG" MONDO_0005138 "Disgenet " 6847 MAP2K7 Schizophrenias MONDO_0005090 "Disgenet " 6847 MAP2K7 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 6847 MAP2K7 "Heart failure" MONDO_0005252 "Disgenet " 6847 MAP2K7 "Congestive heart failure" MONDO_0005252 "Disgenet " 6848 MAP3K1 "Cancer, Breast" MONDO_0007254 "Disgenet " 6848 MAP3K1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 6848 MAP3K1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6848 MAP3K1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 6848 MAP3K1 SRXY6 MONDO_0013410 "Disgenet " 6848 MAP3K1 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 6848 MAP3K1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 6848 MAP3K1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 685 ARHGEF6 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 685 ARHGEF6 "non-syndromic X-linked intellectual disability" MONDO:0019181 "ClinGen " 6853 MAP3K14 "NIK deficiency" MONDO:0018642 "ClinGen " 6853 MAP3K14 "Primary immunodeficiency with multifaceted aberrant lymphoid immunity" MONDO_0018642 "Disgenet " 6855 MAP3K3 "Verrucous keratotic haemangioma" MONDO_0018734 "Disgenet " 6857 MAP3K5 Melanoma MONDO_0005105 "Disgenet " 6857 MAP3K5 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 6857 MAP3K5 "Parkinson Disease" MONDO_0014796 "Disgenet " 6857 MAP3K5 "Chorea, Huntington" MONDO_0011671 "Disgenet " 6858 MAP3K6 "Hereditary Diffuse Gastric Cancer" MONDO_0007648 "Disgenet " 6859 MAP3K7 "Forney Robinson Pascoe syndrome" MONDO_0008005 "Disgenet " 6859 MAP3K7 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6859 MAP3K7 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 6859 MAP3K7 FMD2 MONDO_0014935 "Disgenet " 6859 MAP3K7 "Frontometaphyseal dysplasia" MONDO_0015942 "Disgenet " 686 RHOH "Disease, Lewandowsky-Lutz" MONDO_0009176 "Disgenet " 686 RHOH "epidermodysplasia verruciformis, susceptibility to, 4" MONDO:0032666 "ClinGen " 6860 MAP3K8 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 6860 MAP3K8 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 6860 MAP3K8 hypernephroma MONDO_0005086 "Disgenet " 6860 MAP3K8 "Lung Neoplasm" MONDO_0002732 "Disgenet " 6866 MAP4K4 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6868 MAP6 Schizophrenias MONDO_0005090 "Disgenet " 687 DIRAS3 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6871 MAPK1 Schizophrenias MONDO_0005090 "Disgenet " 6871 MAPK1 "Head and Neck Neoplasms" MONDO_0005586 "Disgenet " 6871 MAPK1 "Hodgkin's granuloma" MONDO_0004952 "Disgenet " 6871 MAPK1 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 6871 MAPK1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 6871 MAPK1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 6871 MAPK1 Melanoma MONDO_0005105 "Disgenet " 6871 MAPK1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 6871 MAPK1 "Parkinson Disease" MONDO_0014796 "Disgenet " 6871 MAPK1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 6871 MAPK1 "Kidney Neoplasm" MONDO_0002367 "Disgenet " 6871 MAPK1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 6871 MAPK1 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 6871 MAPK1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 6871 MAPK1 "Neoplasm, Thyroid" MONDO_0015074 "Disgenet " 6871 MAPK1 "Uterine adenocarcinoma" MONDO_0005461 "Disgenet " 6871 MAPK1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 6871 MAPK1 Sepsis MONDO_0005229 "Disgenet " 6871 MAPK1 Cardiomyopathy MONDO_0004994 "Disgenet " 6871 MAPK1 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 6871 MAPK1 "ISCHEMIC ENCEPH" MONDO_0005299 "Disgenet " 6871 MAPK1 "NOONAN SYNDROME 13" MONDO_0033669 "Disgenet " 6877 MAPK3 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 6877 MAPK3 Schizophrenias MONDO_0005090 "Disgenet " 6877 MAPK3 "adenocarcinoma of large intestine (diagnosis)" MONDO_0005008 "Disgenet " 6877 MAPK3 "Head and Neck Neoplasms" MONDO_0005586 "Disgenet " 6877 MAPK3 "Parkinson Disease" MONDO_0014796 "Disgenet " 6877 MAPK3 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 6877 MAPK3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6877 MAPK3 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 6877 MAPK3 "Fothergill's neuralgia" MONDO_0008599 "Disgenet " 6877 MAPK3 "Colonic adenocarcinoma" MONDO_0005401 "Disgenet " 6877 MAPK3 Sepsis MONDO_0005229 "Disgenet " 6877 MAPK3 "Uterine adenocarcinoma" MONDO_0005461 "Disgenet " 6877 MAPK3 "ISCHEMIC ENCEPH" MONDO_0005299 "Disgenet " 6877 MAPK3 Cardiomyopathy MONDO_0004994 "Disgenet " 6877 MAPK3 "Depressive neurosis" MONDO_0002050 "Disgenet " 6877 MAPK3 Depression MONDO_0002050 "Disgenet " 6877 MAPK3 "Child Development Disorder" MONDO_0005287 "Disgenet " 6877 MAPK3 "Kidney Neoplasm" MONDO_0002367 "Disgenet " 6877 MAPK3 "Childhood autism" MONDO_0005260 "Disgenet " 6877 MAPK3 "Lung Neoplasm" MONDO_0002732 "Disgenet " 6881 MAPK8 Schizophrenias MONDO_0005090 "Disgenet " 6881 MAPK8 "Aortic Aneurysm, Abdominal" MONDO_0005350 "Disgenet " 6881 MAPK8 "Atopic Eczema" MONDO_0011292 "Disgenet " 6881 MAPK8 Depression MONDO_0002050 "Disgenet " 6881 MAPK8 "Depressive neurosis" MONDO_0002050 "Disgenet " 6881 MAPK8 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 6881 MAPK8 "Glioblastoma multiforme" MONDO_0018177 "Disgenet " 6881 MAPK8 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 6881 MAPK8 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 6881 MAPK8 hypernephroma MONDO_0005086 "Disgenet " 6882 MAPK8IP1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 6884 MAPK8IP3 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 6884 MAPK8IP3 "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES" MONDO_0032755 "Disgenet " 6884 MAPK8IP3 "neurodevelopmental disorder with or without variable brain abnormalities; NEDBA" MONDO:0032755 "ClinGen " 6884 MAPK8IP3 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 6886 MAPK9 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6886 MAPK9 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 6888 MAPKAPK3 "MACULAR DYSTROPHY, PATTERNED, 3" MONDO_0014920 "Disgenet " 6891 MAPRE2 "SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2" MONDO_0014755 "Disgenet " 6893 MAPT "Frontotemporal dementia, behavioral variant" MONDO_0017160 "Disgenet " 6893 MAPT PPND MONDO_0017276 "Disgenet " 6893 MAPT "Memory impairment" "Disgenet " 6893 MAPT "Progressive cognitive decline" "Disgenet " 6893 MAPT "Atrial Fibrillation" MONDO_0004981 "Disgenet " 6893 MAPT "Learning disability" MONDO_0004681 "Disgenet " 6893 MAPT "Degenerative disease of nervous system, unspecified" MONDO_0005559 "Disgenet " 6893 MAPT Parkinsonism MONDO_0021095 "Disgenet " 6893 MAPT "Frontotemporal dementia" MONDO_0017276 "Disgenet " 6893 MAPT "Progressive supranuclear palsy" MONDO_0019037 "Disgenet " 6893 MAPT tauopathy MONDO_0005574 "Disgenet " 6893 MAPT "Alzheimer Disease" MONDO_0012630 "Disgenet " 6893 MAPT "Pick's disease" MONDO_0008243 "Disgenet " 6893 MAPT Dementia MONDO_0001627 "Disgenet " 6893 MAPT "Parkinson Disease" MONDO_0014796 "Disgenet " 6893 MAPT "Temporal lobe epilepsy" MONDO_0005115 "Disgenet " 6893 MAPT "Progressive Nonfluent Aphasias" MONDO_0015059 "Disgenet " 6893 MAPT "Semantic Dementias" MONDO_0017276 "Disgenet " 6893 MAPT "degenerative disorders" MONDO_0005559 "Disgenet " 6893 MAPT "Anxiety Disorder" MONDO_0005618 "Disgenet " 6893 MAPT "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 6893 MAPT "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6896 MARK1 "Childhood autism" MONDO_0005260 "Disgenet " 6896 MARK1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 6898 MARS1 "Autosomal recessive spastic paraplegia type 70 (disorder)" MONDO_0018422 "Disgenet " 6898 MARS1 "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2U" MONDO_0014566 "Disgenet " 6898 MARS1 "INTERSTITIAL LUNG AND LIVER DISEASE" MONDO_0014206 "Disgenet " 6898 MARS1 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 6898 MARS1 "Charcot-Marie-Tooth disease" MONDO:0015626 "ClinGen " 6901 MASP1 "Oculopalatoskeletal syndrome" MONDO_0017398 "Disgenet " 6901 MASP1 "Craniofacial ulnar renal syndrome" MONDO_0017398 "Disgenet " 6902 MASP2 "MASP2 DEFICIENCY" MONDO_0013423 "Disgenet " 6904 MAT2A "familial thoracic aortic aneurysm and aortic dissection" MONDO:0019625 "ClinGen " 6909 MATN3 "Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related" MONDO_0012108 "Disgenet " 6909 MATN3 "EPIPHYSEAL DYSPLASIA, MULTIPLE, 5" MONDO_0011765 "Disgenet " 6912 MATR3 "distal muscular dystrophy" MONDO_0018949 "Disgenet " 6912 MATR3 "MYOPATHY, DISTAL 2" MONDO_0018951 "Disgenet " 6912 MATR3 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 6912 MATR3 "distal myopathy with vocal cord weakness" MONDO:0018951 "ClinGen " 6912 MATR3 "MPD2, FORMERLY" MONDO_0011632 "Disgenet " 6913 MAX "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 6913 MAX "Hereditary phaeochromocytoma and paraganglioma" MONDO_0017366 "Disgenet " 6913 MAX "Childhood Renal Wilms' Tumor" MONDO_0024676 "Disgenet " 6913 MAX Nephroblastoma MONDO_0019004 "Disgenet " 6913 MAX Pheochromocytoma MONDO_0008233 "Disgenet " 6913 MAX "hereditary pheochromocytoma-paraganglioma" MONDO:0017366 "ClinGen " 6917 MBD2 Schizophrenias MONDO_0005090 "Disgenet " 6917 MBD2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6918 MBD3 "Childhood autism" MONDO_0005260 "Disgenet " 6919 MBD4 "tumor predisposition syndrome 2" MONDO:0859267 "ClinGen " 6919 MBD4 "Childhood autism" MONDO_0005260 "Disgenet " 6919 MBD4 "MELANOMA, UVEAL" MONDO_0006486 "Disgenet " 6919 MBD4 CRC MONDO_0005335 "Disgenet " 6923 MBNL1 DM MONDO_0016107 "Disgenet " 6925 MBP Alcoholism MONDO_0002046 "Disgenet " 6925 MBP "Neuromyelitis Optica" MONDO_0019100 "Disgenet " 6925 MBP Schizophrenias MONDO_0005090 "Disgenet " 6925 MBP "Demyelinating Disease" MONDO_0002562 "Disgenet " 6925 MBP "Multiple Sclerosis" MONDO_0005301 "Disgenet " 6929 MC1R Melanoma MONDO_0005105 "Disgenet " 6929 MC1R "Neoplasms, Basal Cell" MONDO_0005341 "Disgenet " 6929 MC1R OCA2 MONDO_0008746 "Disgenet " 6929 MC1R Depression MONDO_0002050 "Disgenet " 6929 MC1R "Depressive neurosis" MONDO_0002050 "Disgenet " 6929 MC1R Vitiligo MONDO_0008661 "Disgenet " 6929 MC1R "Hereditary Cutaneous Melanoma" MONDO_0018961 "Disgenet " 6934 MCAM "Multiple Sclerosis" MONDO_0005301 "Disgenet " 6935 MCC "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 6935 MCC CRC MONDO_0005335 "Disgenet " 6935 MCC "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 6935 MCC "Adenomatous Polyposis Coli" MONDO_0021056 "Disgenet " 6936 MCCC1 "3 Methylcrotonyl-CoA carboxylase deficiency" MONDO_0018950 "Disgenet " 6936 MCCC1 "3-methylcrotonyl-CoA carboxylase deficiency" MONDO:0018950 "ClinGen " 6936 MCCC1 "3-methylcrotonyl-CoA carboxylase deficiency (diagnosis)" MONDO_0018950 "Disgenet " 6937 MCCC2 "3-methylcrotonyl-CoA carboxylase deficiency" MONDO:0018950 "ClinGen " 6937 MCCC2 "3-methylcrotonyl-CoA carboxylase deficiency (diagnosis)" MONDO_0018950 "Disgenet " 6937 MCCC2 "Methylcrotonylglycinuria type 2" MONDO_0008862 "Disgenet " 694 ARL3 "Retinal dystrophy" MONDO_0019118 "Disgenet " 694 ARL3 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 694 ARL3 CPD4 MONDO_0018772 "Disgenet " 694 ARL3 RP83 MONDO_0032577 "Disgenet " 6943 MCL1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 6943 MCL1 "Cutaneous T Cell Lymphoma" MONDO_0015758 "Disgenet " 6943 MCL1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 6943 MCL1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 6943 MCL1 "Multiple Myeloma" MONDO_0009693 "Disgenet " 6943 MCL1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 6944 MCM2 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 6944 MCM2 "DEAFNESS, AUTOSOMAL DOMINANT 70" MONDO_0014853 "Disgenet " 6944 MCM2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6944 MCM2 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 6946 MCM3AP "peripheral neuropathy, autosomal recessive, with or without impaired intellectual development" MONDO:0029131 "ClinGen " 6946 MCM3AP "Peripheral neuropathy" MONDO_0005244 "Disgenet " 6947 MCM4 "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency" MONDO:0012383 "ClinGen " 6947 MCM4 "Natural Killer Cell Deficiency, Familial Isolated" MONDO_0012383 "Disgenet " 6948 MCM5 "MEIER-GORLIN SYNDROME 8" MONDO_0033046 "Disgenet " 6950 MCM7 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6953 CD46 Nephropathy MONDO_0005240 "Disgenet " 6953 CD46 "Thrombotic microangiopathy" MONDO_0019737 "Disgenet " 6953 CD46 CRC MONDO_0005335 "Disgenet " 6953 CD46 Measles MONDO_0004619 "Disgenet " 6953 CD46 "Non-Shiga-Like Toxin-Associated HUSs" MONDO_0016244 "Disgenet " 6953 CD46 "Gassers Syndrome" MONDO_0001549 "Disgenet " 6953 CD46 "atypical hemolytic-uremic syndrome" MONDO:0016244 "ClinGen " 6953 CD46 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 6954 MCPH1 "Microcephaly, congenital" "Disgenet " 6954 MCPH1 Microcephalies MONDO_0001149 "Disgenet " 6954 MCPH1 "True Microcephaly" MONDO_0016660 "Disgenet " 6954 MCPH1 "Cancer, Breast" MONDO_0007254 "Disgenet " 6954 MCPH1 MCPH1 MONDO_0009617 "Disgenet " 6954 MCPH1 "microcephaly with intellectual disability" MONDO:0100200 "ClinGen " 6954 MCPH1 "hereditary breast carcinoma" MONDO:0016419 "ClinGen " 6954 MCPH1 "familial ovarian cancer" MONDO:0016248 "ClinGen " 6954 MCPH1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 6960 MCRS1 CRC MONDO_0005335 "Disgenet " 697 ARL6IP1 "SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE" MONDO_0014304 "Disgenet " 697 ARL6IP1 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 697 ARL6IP1 "hereditary spastic paraplegia" MONDO:0019064 "ClinGen " 6970 MDH1 EIEE88 MONDO_0030072 "Disgenet " 6970 MDH1 "Respiratory Distress Syndrome, Adult" MONDO_0100130 "Disgenet " 6970 MDH1 Schizophrenias MONDO_0005090 "Disgenet " 6970 MDH1 "Liver Failure, Acute" MONDO_0019542 "Disgenet " 6971 MDH2 EIEE51 MONDO_0015025 "Disgenet " 6972 MDK Schizophrenias MONDO_0005090 "Disgenet " 6972 MDK "Mesothelioma, malignant" MONDO_0006292 "Disgenet " 6972 MDK "Anxiety Disorder" MONDO_0005618 "Disgenet " 6972 MDK "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 6972 MDK "Glioma, malignant" MONDO_0100342 "Disgenet " 6972 MDK Gliomas MONDO_0021042 "Disgenet " 6973 MDM2 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 6973 MDM2 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 6973 MDM2 "Dedifferentiated Liposarcoma" MONDO_0005060 "Disgenet " 6973 MDM2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6973 MDM2 Melanoma MONDO_0005105 "Disgenet " 6973 MDM2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 6973 MDM2 "Li Fraumeni Syndrome" MONDO_0018875 "Disgenet " 6973 MDM2 "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 6973 MDM2 Glioblastoma MONDO_0018177 "Disgenet " 6973 MDM2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 6973 MDM2 "Primary Glioblastoma" MONDO_0018177 "Disgenet " 6973 MDM2 "Liposarcoma, well differentiated" MONDO_0005103 "Disgenet " 6974 MDM4 "Breast Neoplasms" MONDO_0021100 "Disgenet " 6974 MDM4 Glioblastoma MONDO_0018177 "Disgenet " 6974 MDM4 "bone marrow failure syndrome 6" MONDO:0030015 "ClinGen " 6983 ME1 Obesity MONDO_0019182 "Disgenet " 6983 ME1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6984 ME2 "Unspecified nonorganic psychosis" "Disgenet " 6984 ME2 Psychosis MONDO_0005485 "Disgenet " 6990 MECP2 "Attention Deficit Disorder with Hyperactivity" MONDO_0100518 "Disgenet " 6990 MECP2 "Sick Sinus Syndrome" MONDO_0001823 "Disgenet " 6990 MECP2 MRX1 MONDO_0010656 "Disgenet " 6990 MECP2 "Angelman Syndrome" MONDO_0007113 "Disgenet " 6990 MECP2 Schizophrenias MONDO_0005090 "Disgenet " 6990 MECP2 "Rett syndrome" MONDO:0010726 "ClinGen " 6990 MECP2 "RETT SYNDROME, ATYPICAL" MONDO_0017746 "Disgenet " 6990 MECP2 "Learning disability" MONDO_0004681 "Disgenet " 6990 MECP2 "Stereotypic Movement Disorder" MONDO_0002265 "Disgenet " 6990 MECP2 "Anxiety Disorder" MONDO_0005618 "Disgenet " 6990 MECP2 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 6990 MECP2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 6990 MECP2 "Childhood autism" MONDO_0005260 "Disgenet " 6990 MECP2 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 6990 MECP2 "Rett Syndrome" MONDO_0010726 "Disgenet " 6990 MECP2 MRXSL MONDO_0010283 "Disgenet " 6990 MECP2 Epilepsies MONDO_0005027 "Disgenet " 6990 MECP2 "ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS" MONDO_0010397 "Disgenet " 6990 MECP2 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 6990 MECP2 "Developmental regression" "Disgenet " 6990 MECP2 "Child Development Disorder" MONDO_0005287 "Disgenet " 6990 MECP2 "Global developmental delay" "Disgenet " 6990 MECP2 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 6990 MECP2 MRX16 MONDO_0010235 "Disgenet " 6990 MECP2 Bruxism MONDO_0002443 "Disgenet " 6990 MECP2 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 6990 MECP2 "apnea central" "Disgenet " 6990 MECP2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 6990 MECP2 "epileptic encephalopathy" "Disgenet " 6990 MECP2 "Unspecified congenital anomaly of brain, spinal cord, and nervous system" MONDO_0002320 "Disgenet " 6996 MEF2C "5q14.3 microdeletion syndrome" MONDO_0016456 "Disgenet " 6996 MEF2C "Childhood autism" MONDO_0005260 "Disgenet " 6996 MEF2C "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 6996 MEF2C "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 6996 MEF2C "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 6996 MEF2C "Stereotypic Movement Disorder" MONDO_0002265 "Disgenet " 6996 MEF2C "Unspecified mental retardation" MONDO_0001071 "Disgenet " 6996 MEF2C Epilepsies MONDO_0005027 "Disgenet " 6996 MEF2C "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 7 A2M "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 7 A2M "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 7 A2M Depression MONDO_0002050 "Disgenet " 7 A2M "Liver cell carcinoma" MONDO_0007256 "Disgenet " 7 A2M "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 7 A2M "Depressive neurosis" MONDO_0002050 "Disgenet " 7 A2M "Multiple Sclerosis" MONDO_0005301 "Disgenet " 7 A2M "Parkinson Disease" MONDO_0014796 "Disgenet " 7 A2M "Lung Neoplasm" MONDO_0002732 "Disgenet " 7 A2M "Alzheimer Disease" MONDO_0012630 "Disgenet " 700 ARNT "Renal cell carcinoma" MONDO_0005549 "Disgenet " 700 ARNT "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 700 ARNT Melanoma MONDO_0005105 "Disgenet " 700 ARNT Endometrioses MONDO_0005133 "Disgenet " 7000 MEIS1 "Restless legs syndrome" MONDO_0005391 "Disgenet " 7001 MEIS2 "syndromic intellectual disability" MONDO:0000508 "ClinGen " 7001 MEIS2 "Cleft Palate" MONDO_0016064 "Disgenet " 7001 MEIS2 "Learning disability" MONDO_0004681 "Disgenet " 701 BMAL1 "Affective Disorders" MONDO_0005371 "Disgenet " 701 BMAL1 Depression MONDO_0002050 "Disgenet " 701 BMAL1 "Depressive neurosis" MONDO_0002050 "Disgenet " 701 BMAL1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 701 BMAL1 "Affective Disorder, Seasonal" MONDO_0000694 "Disgenet " 7010 MEN1 "Cancer Syndrome, Hereditary" MONDO_0015356 "Disgenet " 7010 MEN1 "Neoplasm, Parathyroid" MONDO_0012004 "Disgenet " 7010 MEN1 "Adenomatoses, Familial Endocrine" MONDO_0017169 "Disgenet " 7010 MEN1 "Adrenal cortical carcinoma" MONDO_0006639 "Disgenet " 7010 MEN1 "alpha Cell Tumor" MONDO_0019959 "Disgenet " 7010 MEN1 "Primary hyperparathyroidism" MONDO_0010837 "Disgenet " 7010 MEN1 FIHP MONDO_0015027 "Disgenet " 7010 MEN1 "Parathyroid adenoma" MONDO_0006890 "Disgenet " 7010 MEN1 "Neuroendocrine Tumors" MONDO_0019496 "Disgenet " 7010 MEN1 "Carcinoid tumour pulmonary" MONDO_0006041 "Disgenet " 7010 MEN1 Ependymoma MONDO_0016698 "Disgenet " 7010 MEN1 "Adenomas, Adrenal Cortical" MONDO_0003924 "Disgenet " 7010 MEN1 "medullary thyroid carcinoma" MONDO_0015277 "Disgenet " 7010 MEN1 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 7010 MEN1 "Gastrin Producing Tumor" MONDO_0003523 "Disgenet " 7010 MEN1 "Pituitary Adenoma, PRL-Secreting" MONDO_0010911 "Disgenet " 7010 MEN1 Hyperparathyroidism MONDO_0001741 "Disgenet " 7010 MEN1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 7010 MEN1 "multiple endocrine neoplasia type 1" MONDO:0007540 "ClinGen " 7010 MEN1 "Duodenal Gastrin-Producing Neuroendocrine Tumor" MONDO_0004411 "Disgenet " 7010 MEN1 "beta Cell Tumor" MONDO_0005048 "Disgenet " 7010 MEN1 "MEN I" MONDO_0017169 "Disgenet " 7013 MEOX1 "Dystrophia Brevicollis Congenitas" MONDO_0001029 "Disgenet " 7013 MEOX1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 7027 MERTK "Autosomal recessive retinitis pigmentosa" "Disgenet " 7027 MERTK "Retinal dystrophy" MONDO_0019118 "Disgenet " 7027 MERTK "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 7027 MERTK RP38 MONDO_0013469 "Disgenet " 7027 MERTK "MERTK-related retinopathy" MONDO:0800394 "ClinGen " 7027 MERTK "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 7029 MET "Liver cell carcinoma" MONDO_0007256 "Disgenet " 7029 MET "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 7029 MET "Papillary renal cell carcinoma" MONDO_0017884 "Disgenet " 7029 MET "Lung Neoplasm" MONDO_0002732 "Disgenet " 7029 MET "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 7029 MET "Renal cell carcinoma" MONDO_0005549 "Disgenet " 7029 MET "Childhood autism" MONDO_0005260 "Disgenet " 7029 MET "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 7029 MET carcinogenesis "Disgenet " 7029 MET "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 7029 MET "CARCINOMA OF LUNG" MONDO_0005138 "Disgenet " 7029 MET "Osteofibrous Dysplasia of Bone" MONDO_0011806 "Disgenet " 7029 MET "Mesothelioma, malignant" MONDO_0006292 "Disgenet " 7029 MET "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 7029 MET "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 7029 MET "carcinoma of kidney" MONDO_0005206 "Disgenet " 7029 MET "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 7029 MET Glioblastoma MONDO_0018177 "Disgenet " 7029 MET Melanoma MONDO_0005105 "Disgenet " 7029 MET "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7029 MET "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 7029 MET Adenocarcinoma MONDO_0004970 "Disgenet " 7029 MET "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 7029 MET DFNB97 MONDO_0014739 "Disgenet " 7029 MET "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 7029 MET "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 7029 MET "papillary renal cell carcinoma" MONDO:0017884 "ClinGen " 7029 MET RCCP1 MONDO_0003789 "Disgenet " 7029 MET Neuroblastoma MONDO_0005072 "Disgenet " 7029 MET "Papillary renal cell carcinoma, sporadic" MONDO_0017884 "Disgenet " 7029 MET "Lymphatic Metastases" "Disgenet " 7029 MET "Fatty Liver" MONDO_0004790 "Disgenet " 7029 MET Hepatoblastoma MONDO_0018666 "Disgenet " 7029 MET Schizophrenias MONDO_0005090 "Disgenet " 7029 MET "Multiple Myeloma" MONDO_0009693 "Disgenet " 7029 MET Carcinoma MONDO_0004993 "Disgenet " 7029 MET "Cancer, Ovarian" MONDO_0008170 "Disgenet " 7029 MET "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 7029 MET "Hereditary Papillary Renal Carcinoma" MONDO_0003789 "Disgenet " 7029 MET "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 7029 MET "Primary Glioblastoma" MONDO_0018177 "Disgenet " 7029 MET Epithelioma MONDO_0004993 "Disgenet " 7029 MET Astrocytoma MONDO_0019781 "Disgenet " 7029 MET "Cancer, Squamous Cell" MONDO_0002532 "Disgenet " 7029 MET "Hodgkin's granuloma" MONDO_0004952 "Disgenet " 7029 MET "Familial Malignant Neoplasm" "Disgenet " 7036 MFGE8 "Breast Neoplasms" MONDO_0021100 "Disgenet " 7036 MFGE8 "Arteritides, Giant Cell" MONDO_0008538 "Disgenet " 7037 MELTF Melanoma MONDO_0005105 "Disgenet " 704 ARPC1B Thrombocytopenia MONDO_0002049 "Disgenet " 704 ARPC1B "Combined immunodeficiencies" MONDO_0015131 "Disgenet " 704 ARPC1B "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease" MONDO:0060583 "ClinGen " 704 ARPC1B PLTEID MONDO_0060583 "Disgenet " 7045 MGAT2 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa" MONDO_0008908 "Disgenet " 7045 MGAT2 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 7045 MGAT2 "MGAT2-congenital disorder of glycosylation" MONDO:0008908 "ClinGen " 705 ARPC2 "Ulcerative colitis" MONDO_0005101 "Disgenet " 7059 MGMT "Mouth Neoplasm" MONDO_0021245 "Disgenet " 7059 MGMT "glioblastoma multiforme adult" MONDO_0020690 "Disgenet " 7059 MGMT "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 7059 MGMT Leukemias MONDO_0005059 "Disgenet " 7059 MGMT "Glioma, malignant" MONDO_0100342 "Disgenet " 7059 MGMT "WELL DIFFER OLIGODENDROGLIOMA" MONDO_0016695 "Disgenet " 7059 MGMT "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 7059 MGMT Glioblastoma MONDO_0018177 "Disgenet " 7059 MGMT Gliomas MONDO_0021042 "Disgenet " 7059 MGMT Gliosarcoma MONDO_0016681 "Disgenet " 7059 MGMT "Brain Neoplasms" MONDO_0021211 "Disgenet " 7059 MGMT "CARCINOMA OF CERVIX" MONDO_0005131 "Disgenet " 7059 MGMT "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 7059 MGMT "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 7059 MGMT Cholangiocarcinoma MONDO_0019087 "Disgenet " 7059 MGMT "Cancer, Breast" MONDO_0007254 "Disgenet " 7059 MGMT "Primary Glioblastoma" MONDO_0018177 "Disgenet " 7059 MGMT Retinoblastoma MONDO_0008380 "Disgenet " 7059 MGMT "Hereditary Cutaneous Melanoma" MONDO_0018961 "Disgenet " 7060 MGP "Varicose Veins" MONDO_0008638 "Disgenet " 7060 MGP "Keutel syndrome" MONDO:0009495 "ClinGen " 7060 MGP "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 7060 MGP "Vascular calcification" "Disgenet " 7060 MGP "KEUTEL SYNDROME" MONDO_0009495 "Disgenet " 7060 MGP Arterioscleroses MONDO_0002277 "Disgenet " 7061 MGST1 "Degenerative disease of nervous system, unspecified" MONDO_0005559 "Disgenet " 7067 CIITA "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 7067 CIITA "Addisons Disease" MONDO_0100480 "Disgenet " 7067 CIITA "MHC class II deficiency" MONDO:0008855 "ClinGen " 7067 CIITA "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 7067 CIITA "Bare Lymphocyte Syndromes" MONDO_0015974 "Disgenet " 7067 CIITA "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 7067 CIITA "Multiple Sclerosis" MONDO_0005301 "Disgenet " 7067 CIITA BLS MONDO_0971005 "Disgenet " 707 ARPC4 DEVLO MONDO_0859324 "Disgenet " 7090 MICA "Liver cell carcinoma" MONDO_0007256 "Disgenet " 7091 MICB "Dengue hemorrhagic fever" MONDO_0005358 "Disgenet " 7091 MICB Schizophrenias MONDO_0005090 "Disgenet " 7095 MID1 "X-linked Opitz G/BBB syndrome" MONDO:0010222 "ClinGen " 7095 MID1 OSX MONDO_0010222 "Disgenet " 7096 MID2 MRX101 MONDO_0010489 "Disgenet " 7097 MIF "Diseases, Lung" MONDO_0005275 "Disgenet " 7097 MIF "Breast Neoplasms" MONDO_0021100 "Disgenet " 7097 MIF Sepsis MONDO_0005229 "Disgenet " 7097 MIF Colitides MONDO_0005534 "Disgenet " 7097 MIF "Cystic Fibrosis" MONDO_0009061 "Disgenet " 7097 MIF Obesity MONDO_0019182 "Disgenet " 7097 MIF "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7097 MIF Depression MONDO_0002050 "Disgenet " 7097 MIF Asthma MONDO_0004979 "Disgenet " 7097 MIF "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 7097 MIF COPD MONDO_0005002 "Disgenet " 7097 MIF "Tuberculosis, Pulmonary" MONDO_0957462 "Disgenet " 7097 MIF "Anxiety Disorder" MONDO_0005618 "Disgenet " 7097 MIF Pneumonia MONDO_0005249 "Disgenet " 7097 MIF "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 7098 CXCL9 Endometrioses MONDO_0005133 "Disgenet " 7098 CXCL9 "Cystitides, Interstitial" MONDO_0018301 "Disgenet " 7098 CXCL9 "Alopecia Areata" MONDO_0005340 "Disgenet " 7098 CXCL9 "Breast Neoplasms" MONDO_0021100 "Disgenet " 7098 CXCL9 Pneumonia MONDO_0005249 "Disgenet " 7098 CXCL9 "primary biliary cirrhosis" MONDO_0005388 "Disgenet " 7102 MINPP1 "PONTOCEREBELLAR HYPOPLASIA, TYPE 16" MONDO_0030438 "Disgenet " 7102 MINPP1 "Pontocerebellar hypoplasia" MONDO_0020135 "Disgenet " 7104 MIPEP "mitochondrial disease" MONDO:0044970 "ClinGen " 7104 MIPEP COXPD31 MONDO_0014976 "Disgenet " 7105 MITF "Waardenburg syndrome type 2" MONDO:0019517 "ClinGen " 7105 MITF "Chondritides, Costal" MONDO_0001858 "Disgenet " 7105 MITF "Renal cell carcinoma" MONDO_0005549 "Disgenet " 7105 MITF WS1 MONDO_0008670 "Disgenet " 7105 MITF WS4A MONDO_0010192 "Disgenet " 7105 MITF "Hereditary Cutaneous Melanoma" MONDO_0018961 "Disgenet " 7105 MITF Hypoacusis MONDO_0005365 "Disgenet " 7105 MITF "Congenital sensorineural hearing loss" "Disgenet " 7105 MITF "Albinism-deafness of Tietz" MONDO_0007077 "Disgenet " 7105 MITF Melanoma MONDO_0005105 "Disgenet " 7105 MITF WS2A MONDO_0008671 "Disgenet " 7105 MITF "Syndrome, Waardenburg's" MONDO_0018094 "Disgenet " 7105 MITF "Waardenburg Syndrome Type II" MONDO_0019517 "Disgenet " 7106 ATXN3 Depression MONDO_0002050 "Disgenet " 7106 ATXN3 "Disease, Machado-Joseph" MONDO_0007182 "Disgenet " 7106 ATXN3 "Depressive neurosis" MONDO_0002050 "Disgenet " 7107 MKI67 "Cancer, Breast" MONDO_0007254 "Disgenet " 7107 MKI67 Adenocarcinoma MONDO_0004970 "Disgenet " 7107 MKI67 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 7107 MKI67 Psoriases MONDO_0005083 "Disgenet " 7107 MKI67 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 7107 MKI67 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 7107 MKI67 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 7107 MKI67 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 7107 MKI67 "Breast Neoplasms" MONDO_0021100 "Disgenet " 7107 MKI67 "Chronic hepatitis, unspecified" MONDO_0002251 "Disgenet " 7107 MKI67 "HIV infection" MONDO_0005109 "Disgenet " 7108 MKKS Obesity MONDO_0019182 "Disgenet " 7108 MKKS "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 7108 MKKS "MKKS-related ciliopathy" MONDO:1040050 "ClinGen " 7108 MKKS "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 7108 MKKS MKKS MONDO_0009367 "Disgenet " 7108 MKKS "Polycystic kidney" MONDO_0020642 "Disgenet " 7108 MKKS Ciliopathies MONDO_0005308 "Disgenet " 7108 MKKS "BARDET-BIEDL SYNDROME 6" MONDO_0011523 "Disgenet " 711 ARRB1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 711 ARRB1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 7114 MKRN3 "PRECOCIOUS PUBERTY, CENTRAL, 2" MONDO_0014137 "Disgenet " 7114 MKRN3 "Precocious puberty" MONDO_0007690 "Disgenet " 7114 MKRN3 "Prader Willi Syndrome" MONDO_0008300 "Disgenet " 712 ARRB2 "Depressive neurosis" MONDO_0002050 "Disgenet " 712 ARRB2 Depression MONDO_0002050 "Disgenet " 712 ARRB2 "Opioid dependence" MONDO_0005530 "Disgenet " 7121 MKS1 Polydactyly MONDO_0021003 "Disgenet " 7121 MKS1 CPD4 MONDO_0018772 "Disgenet " 7121 MKS1 Ciliopathies MONDO_0005308 "Disgenet " 7121 MKS1 "BARDET-BIEDL SYNDROME 13" MONDO_0014441 "Disgenet " 7121 MKS1 ciliopathy MONDO:0005308 "ClinGen " 7121 MKS1 "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 7121 MKS1 "MECKEL SYNDROME, TYPE 1" MONDO_0009571 "Disgenet " 7121 MKS1 "Meckel-Gruber syndrome" MONDO_0018921 "Disgenet " 7125 MLF1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 7127 MLH1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 7127 MLH1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 7127 MLH1 "Colorectal Neoplasms, Hereditary Nonpolyposis" MONDO_0005835 "Disgenet " 7127 MLH1 "Lynch Syndrome" MONDO_0005835 "Disgenet " 7127 MLH1 "Familial Malignant Neoplasm" "Disgenet " 7127 MLH1 "Cancer, Breast" MONDO_0007254 "Disgenet " 7127 MLH1 "Cancer Syndrome, Hereditary" MONDO_0015356 "Disgenet " 7127 MLH1 "Hereditary nonpolyposis colorectal carcinoma" "Disgenet " 7127 MLH1 "Hereditary Breast and Ovarian Cancer Syndrome" MONDO_0003582 "Disgenet " 7127 MLH1 "mismatch repair cancer syndrome 1" MONDO:0010159 "ClinGen " 7127 MLH1 "hereditary breast carcinoma" MONDO:0016419 "ClinGen " 7127 MLH1 "Lynch syndrome" MONDO:0005835 "ClinGen " 7127 MLH1 "Sporadic Breast Cancer" MONDO_0004438 "Disgenet " 7127 MLH1 "Constitutional Mismatch Repair Deficiency Syndrome" MONDO_0010159 "Disgenet " 7127 MLH1 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 7127 MLH1 "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 7127 MLH1 CRC MONDO_0005335 "Disgenet " 7127 MLH1 HNPCC MONDO_0018630 "Disgenet " 7127 MLH1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 7127 MLH1 "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 7127 MLH1 "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 7127 MLH1 "MUIR-TORRE SYNDROME" MONDO_0008018 "Disgenet " 7127 MLH1 Lymphomas MONDO_0005062 "Disgenet " 7127 MLH1 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 7127 MLH1 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 7127 MLH1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7127 MLH1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 7127 MLH1 BTPS1 MONDO_0031219 "Disgenet " 7127 MLH1 HNPCC2 MONDO_0012249 "Disgenet " 7127 MLH1 "Cancer, Lung" MONDO_0008903 "Disgenet " 7127 MLH1 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 7127 MLH1 "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 7127 MLH1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 7128 MLH3 Endometrium MONDO_0011962 "Disgenet " 7128 MLH3 "colorectal cancer, hereditary nonpolyposis, type 7" MONDO:0013725 "ClinGen " 7128 MLH3 "intestinal polyposis syndrome" MONDO:0015185 "ClinGen " 7128 MLH3 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 7128 MLH3 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 7128 MLH3 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 7128 MLH3 "Lynch Syndrome" MONDO_0005835 "Disgenet " 7128 MLH3 HNPCC7 MONDO_0013725 "Disgenet " 7128 MLH3 "Colorectal Neoplasms, Hereditary Nonpolyposis" MONDO_0005835 "Disgenet " 713 ARSA Alcoholism MONDO_0002046 "Disgenet " 713 ARSA "metachromatic leukodystrophy" MONDO:0018868 "ClinGen " 713 ARSA "Leukodystrophies, Metachromatic" MONDO_0018868 "Disgenet " 713 ARSA "Infant Metachromatic Leukodystrophies" MONDO_0018868 "Disgenet " 713 ARSA Leukodystrophy MONDO_0019046 "Disgenet " 713 ARSA "METACHROMATIC LEUKODYSTROPHY, JUVENILE" MONDO_0018868 "Disgenet " 713 ARSA "METACHROMATIC LEUKODYSTROPHY, ADULT" MONDO_0018868 "Disgenet " 7132 KMT2A "Wiedemann-Steiner syndrome" MONDO:0011518 "ClinGen " 7132 KMT2A Schizophrenias MONDO_0005090 "Disgenet " 7132 KMT2A "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 7132 KMT2A "Acute myelomonocytic leukemia" MONDO_0018871 "Disgenet " 7132 KMT2A "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 7132 KMT2A "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 7132 KMT2A "leukemia acute undifferentiated" MONDO_0020321 "Disgenet " 7132 KMT2A "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7132 KMT2A "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 7132 KMT2A KMS MONDO_0007843 "Disgenet " 7132 KMT2A "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 7132 KMT2A "Liver cell carcinoma" MONDO_0007256 "Disgenet " 7132 KMT2A "Acute monocytic leukemia" MONDO_0007896 "Disgenet " 7132 KMT2A Leukemias MONDO_0005059 "Disgenet " 7132 KMT2A "Growth Deficiency and Mental Retardation with Facial Dysmorphism" MONDO_0011518 "Disgenet " 7132 KMT2A "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 7132 KMT2A ALL MONDO_0004967 "Disgenet " 7132 KMT2A "Lymphoid Leukemias" MONDO_0005402 "Disgenet " 7132 KMT2A "Myeloid Leukemias" MONDO_0004643 "Disgenet " 7133 KMT2D "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 7133 KMT2D "Kabuki syndrome 1" MONDO:0007843 "ClinGen " 7133 KMT2D "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 7133 KMT2D "Breast Neoplasms" MONDO_0021100 "Disgenet " 7133 KMT2D "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 7133 KMT2D "CHARGE association (disorder)" MONDO_0008965 "Disgenet " 7133 KMT2D "Phyllodes Tumor" MONDO_0015871 "Disgenet " 7133 KMT2D "Multiple Myeloma" MONDO_0009693 "Disgenet " 7133 KMT2D "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 7133 KMT2D "Atresias, Choanal" MONDO_0012155 "Disgenet " 7133 KMT2D "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 7133 KMT2D "Cancer, Lung" MONDO_0008903 "Disgenet " 7133 KMT2D "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7133 KMT2D "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 7133 KMT2D "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 7133 KMT2D "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 7133 KMT2D "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 7133 KMT2D "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 7133 KMT2D Lymphomas MONDO_0005062 "Disgenet " 7133 KMT2D "Brill Symmers Disease" MONDO_0018906 "Disgenet " 7133 KMT2D KMS MONDO_0007843 "Disgenet " 7134 MLLT1 Nephroblastoma MONDO_0019004 "Disgenet " 7134 MLLT1 "Childhood Renal Wilms' Tumor" MONDO_0024676 "Disgenet " 7135 AFF1 "Cancer, Breast" MONDO_0007254 "Disgenet " 714 ARSB "Maroteaux Lamy Syndrome" MONDO_0009661 "Disgenet " 714 ARSB "Leukodystrophies, Metachromatic" MONDO_0018868 "Disgenet " 714 ARSB "mucopolysaccharidosis type 6" MONDO:0009661 "ClinGen " 7150 MLYCD "malonic aciduria" MONDO:0009556 "ClinGen " 7150 MLYCD Cardiomyopathy MONDO_0004994 "Disgenet " 7150 MLYCD "MALONYL-CoA DECARBOXYLASE DEFICIENCY" MONDO_0009556 "Disgenet " 7154 MME "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T" MONDO_0014866 "Disgenet " 7154 MME "Charcot-Marie-Tooth disease axonal type 2T" MONDO:0014866 "ClinGen " 7154 MME "Ataxia, Spinocerebellar" MONDO_0000437 "Disgenet " 7154 MME "Alzheimer Disease" MONDO_0012630 "Disgenet " 7154 MME SCA43 MONDO_0014867 "Disgenet " 7154 MME "Breast Neoplasms" MONDO_0021100 "Disgenet " 7154 MME "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7154 MME "Glomerulonephritides, Membranous" MONDO_0005376 "Disgenet " 7154 MME "Charcot Marie Disease" MONDO_0011687 "Disgenet " 7154 MME "lung injury" "Disgenet " 7157 MMP11 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 7157 MMP11 CRC MONDO_0005335 "Disgenet " 7158 MMP12 "Coronary Disease" MONDO_0005010 "Disgenet " 7158 MMP12 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 7158 MMP12 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 7158 MMP12 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 7158 MMP12 Arterioscleroses MONDO_0002277 "Disgenet " 7158 MMP12 "Cerebrovascular accident" MONDO_0005098 "Disgenet " 7158 MMP12 "Aortic Aneurysm, Abdominal" MONDO_0005350 "Disgenet " 7160 MMP14 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 7160 MMP14 "WINCHESTER SYNDROME" MONDO_0010201 "Disgenet " 7160 MMP14 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 7160 MMP14 "Breast Neoplasms" MONDO_0021100 "Disgenet " 7160 MMP14 COPD MONDO_0005002 "Disgenet " 7160 MMP14 "adenocarcinoma of esophagus (diagnosis)" MONDO_0005028 "Disgenet " 7160 MMP14 Adenocarcinoma MONDO_0004970 "Disgenet " 7160 MMP14 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 7160 MMP14 MONA MONDO_0009809 "Disgenet " 7160 MMP14 "Liver Neoplasm" MONDO_0002691 "Disgenet " 7160 MMP14 "Aortic Aneurysm, Abdominal" MONDO_0005350 "Disgenet " 7165 MMP19 "CAVITARY OPTIC DISC ANOMALIES" MONDO_0012687 "Disgenet " 7166 MMP2 "Aortic Aneurysm, Thoracic" MONDO_0005396 "Disgenet " 7166 MMP2 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 7166 MMP2 "Aneurysms, Intracranial" MONDO_0005291 "Disgenet " 7166 MMP2 "Marfan Syndrome" MONDO_0007947 "Disgenet " 7166 MMP2 "Glomerulonephritides, Lupus" MONDO_0005556 "Disgenet " 7166 MMP2 "Nasopharyngeal Neoplasm" MONDO_0005375 "Disgenet " 7166 MMP2 Alcoholism MONDO_0002046 "Disgenet " 7166 MMP2 "Fibroses, Oral Submucous" MONDO_0018166 "Disgenet " 7166 MMP2 Glioblastoma MONDO_0018177 "Disgenet " 7166 MMP2 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 7166 MMP2 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 7166 MMP2 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 7166 MMP2 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 7166 MMP2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 7166 MMP2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 7166 MMP2 "High blood pressure" MONDO_0005044 "Disgenet " 7166 MMP2 MONA MONDO_0009809 "Disgenet " 7166 MMP2 "Alcoholic Liver Cirrhosis" MONDO_0006644 "Disgenet " 7166 MMP2 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 7166 MMP2 "Cerebral Infarction" MONDO_0002679 "Disgenet " 7166 MMP2 "Pseudoxanthoma Elasticum" MONDO_0009925 "Disgenet " 7166 MMP2 "Arteritides, Giant Cell" MONDO_0008538 "Disgenet " 7166 MMP2 "Occlusion, Retinal Vein" MONDO_0006951 "Disgenet " 7166 MMP2 "Diabetic Neuropathies" MONDO_0006626 "Disgenet " 7166 MMP2 Pterygium MONDO_0005085 "Disgenet " 7166 MMP2 "Abuse, Alcohol" MONDO_0002046 "Disgenet " 7166 MMP2 "Degeneration, Macular" MONDO_0003004 "Disgenet " 7166 MMP2 "Oral Cancer" MONDO_0023644 "Disgenet " 7166 MMP2 "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 7166 MMP2 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 7166 MMP2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 7166 MMP2 CRC MONDO_0005335 "Disgenet " 7166 MMP2 Nearsightedness MONDO_0001384 "Disgenet " 7166 MMP2 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 7174 MMP7 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 7174 MMP7 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 7176 MMP9 "ISCHEMIC ENCEPH" MONDO_0005299 "Disgenet " 7176 MMP9 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 7176 MMP9 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 7176 MMP9 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 7176 MMP9 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 7176 MMP9 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 7176 MMP9 "Sjogren's Syndrome" MONDO_0010030 "Disgenet " 7176 MMP9 "Varicose Veins" MONDO_0008638 "Disgenet " 7176 MMP9 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 7176 MMP9 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 7176 MMP9 "Hemorrhages, Subarachnoid" MONDO_0005099 "Disgenet " 7176 MMP9 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 7176 MMP9 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 7176 MMP9 "Aortic Aneurysm, Abdominal" MONDO_0005350 "Disgenet " 7176 MMP9 Glioblastoma MONDO_0018177 "Disgenet " 7176 MMP9 Obesity MONDO_0019182 "Disgenet " 7176 MMP9 "Coronary Disease" MONDO_0005010 "Disgenet " 7176 MMP9 "Aneurysms, Intracranial" MONDO_0005291 "Disgenet " 7176 MMP9 "Brain Injuries" MONDO_0043510 "Disgenet " 7176 MMP9 "Ventricular septal defect" MONDO_0002070 "Disgenet " 7176 MMP9 "Aneurysms, Aortic" MONDO_0005160 "Disgenet " 7176 MMP9 "Cerebral Infarction" MONDO_0002679 "Disgenet " 7176 MMP9 Schizophrenias MONDO_0005090 "Disgenet " 7176 MMP9 Periodontitides MONDO_0005593 "Disgenet " 7176 MMP9 "Acute Coronary Syndrome" MONDO_0005542 "Disgenet " 7176 MMP9 "Malignant melanoma of skin" MONDO_0005012 "Disgenet " 7176 MMP9 "Angle Closure Glaucoma" MONDO_0001744 "Disgenet " 7176 MMP9 Retinopathy MONDO_0005283 "Disgenet " 7176 MMP9 "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 7176 MMP9 "Diabetic Neuropathies" MONDO_0006626 "Disgenet " 7176 MMP9 "Primary Glioblastoma" MONDO_0018177 "Disgenet " 7176 MMP9 "Arteritides, Giant Cell" MONDO_0008538 "Disgenet " 7176 MMP9 Alcoholism MONDO_0002046 "Disgenet " 7176 MMP9 "Down Syndrome" MONDO_0008608 "Disgenet " 7176 MMP9 "Interstitial lung disease" MONDO_0015925 "Disgenet " 7176 MMP9 "Metaphyseal anadysplasia" MONDO_0015177 "Disgenet " 7176 MMP9 "Cancer, Squamous Cell" MONDO_0002532 "Disgenet " 7176 MMP9 Astrocytoma MONDO_0019781 "Disgenet " 7176 MMP9 "Stable Angina" "Disgenet " 7176 MMP9 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 7176 MMP9 "Gastric ulcer" MONDO_0001126 "Disgenet " 7176 MMP9 "Meningitis, Bacterial" MONDO_0006670 "Disgenet " 7176 MMP9 "Failure, Multiple Organ" MONDO_0043726 "Disgenet " 7176 MMP9 "Bipolar Disorders" MONDO_0004985 "Disgenet " 7176 MMP9 Neuroblastoma MONDO_0005072 "Disgenet " 7176 MMP9 "Fibroses, Oral Submucous" MONDO_0018166 "Disgenet " 7176 MMP9 "Diseases, Liver" MONDO_0005154 "Disgenet " 7176 MMP9 "Bone Neoplasms" MONDO_0002129 "Disgenet " 7176 MMP9 "High blood pressure" MONDO_0005044 "Disgenet " 7176 MMP9 Asthma MONDO_0004979 "Disgenet " 7176 MMP9 "Breast Neoplasms" MONDO_0021100 "Disgenet " 7176 MMP9 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 7176 MMP9 COPD MONDO_0005002 "Disgenet " 7176 MMP9 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7176 MMP9 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 7176 MMP9 "Obstructive sleep apnea syndrome" MONDO_0007147 "Disgenet " 7176 MMP9 "Neoplasm, Skin" MONDO_0002531 "Disgenet " 7176 MMP9 "Aortic Aneurysm, Thoracic" MONDO_0005396 "Disgenet " 7176 MMP9 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 7176 MMP9 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 7176 MMP9 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 7176 MMP9 "Ulcerative colitis" MONDO_0005101 "Disgenet " 7176 MMP9 Sepsis MONDO_0005229 "Disgenet " 7179 ALDH6A1 "methylmalonate semialdehyde dehydrogenase deficiency" MONDO:0013579 "ClinGen " 7179 ALDH6A1 MMSDHD MONDO_0013579 "Disgenet " 7180 MN1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 7180 MN1 Meningiomas MONDO_0016642 "Disgenet " 7180 MN1 "Myeloid Leukemias" MONDO_0004643 "Disgenet " 7189 MOBP "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 7189 MOBP "Progressive supranuclear palsy" MONDO_0019037 "Disgenet " 719 ARSL BCDP MONDO_0007321 "Disgenet " 719 ARSL "CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE" MONDO_0010556 "Disgenet " 719 ARSL "Chondrodysplasia Punctata" MONDO_0019701 "Disgenet " 719 ARSL "X-linked chondrodysplasia punctata 1" MONDO:0010555 "ClinGen " 7190 MOCS1 "sulfite oxidase deficiency due to molybdenum cofactor deficiency type A" MONDO:0009643 "ClinGen " 7190 MOCS1 "Molybdenum Cofactor Deficiency, Complementation Group A" MONDO_0020480 "Disgenet " 7190 MOCS1 "Combined molybdoflavoprotein enzyme deficiency" MONDO_0020480 "Disgenet " 7193 MOCS2 "sulfite oxidase deficiency due to molybdenum cofactor deficiency type B" MONDO:0009644 "ClinGen " 7193 MOCS2 "Combined molybdoflavoprotein enzyme deficiency" MONDO_0020480 "Disgenet " 7193 MOCS2 "Molybdenum Cofactor Deficiency, Complementation Group B" MONDO_0009644 "Disgenet " 7197 MOG "Multiple Sclerosis" MONDO_0005301 "Disgenet " 7197 MOG Narcolepsy MONDO_0019371 "Disgenet " 7197 MOG "Demyelinating Disease" MONDO_0002562 "Disgenet " 7197 MOG "Neuritides, Optic" MONDO_0005885 "Disgenet " 7197 MOG Schizophrenias MONDO_0005090 "Disgenet " 7200 MOV10 "High blood pressure" MONDO_0005044 "Disgenet " 7207 MPDU1 "MPDU1-congenital disorder of glycosylation" MONDO:0012211 "ClinGen " 7207 MPDU1 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If" MONDO_0012211 "Disgenet " 7207 MPDU1 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 7208 MPDZ Hydrocephaly MONDO_0001150 "Disgenet " 7208 MPDZ "Alcohol withdrawal syndrome" MONDO_0005433 "Disgenet " 7208 MPDZ "Congenital hydrocephalus" MONDO_0016349 "Disgenet " 7208 MPDZ Alcoholism MONDO_0002046 "Disgenet " 7208 MPDZ "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 7215 MPHOSPH9 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 7216 MPI "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 7216 MPI "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib" MONDO_0011257 "Disgenet " 7216 MPI "MPI-congenital disorder of glycosylation" MONDO:0011257 "ClinGen " 7223 MPST "encephalopathy due to beta-mercaptolactate-cysteine disulfiduria" MONDO:0009585 "ClinGen " 7223 MPST "MERCAPTOLACTATE-CYSTEINE DISULFIDURIA" MONDO_0009585 "Disgenet " 7225 MPZ "Charcot-Marie-Tooth disease" MONDO:0015626 "ClinGen " 7225 MPZ "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I" MONDO_0011889 "Disgenet " 7225 MPZ CMTDID MONDO_0011909 "Disgenet " 7225 MPZ "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J" MONDO_0011903 "Disgenet " 7225 MPZ "Roussy Levy Syndrome" MONDO_0011687 "Disgenet " 7225 MPZ "HMSN I" MONDO_0019011 "Disgenet " 7225 MPZ "Peripheral sensory neuropathy" MONDO_0002321 "Disgenet " 7225 MPZ "Dejerine Sottas Disease" MONDO_0011687 "Disgenet " 7225 MPZ "HMSN IB" MONDO_0015626 "Disgenet " 7225 MPZ "Charcot Marie Disease" MONDO_0011687 "Disgenet " 7225 MPZ HMSN MONDO_0012250 "Disgenet " 7225 MPZ "Peripheral neuropathy" MONDO_0005244 "Disgenet " 7225 MPZ "Motor Neuron Disease" MONDO_0008780 "Disgenet " 7227 MRAS RASopathy MONDO_0021060 "Disgenet " 7227 MRAS "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 7227 MRAS "Noonan Syndrome" MONDO_0018997 "Disgenet " 7227 MRAS "Noonan syndrome" MONDO:0018997 "ClinGen " 7227 MRAS NS11 MONDO_0032786 "Disgenet " 7228 MRC1 Obesity MONDO_0019182 "Disgenet " 7230 MRE11 "familial ovarian cancer" MONDO:0016248 "ClinGen " 7230 MRE11 "hereditary breast carcinoma" MONDO:0016419 "ClinGen " 7230 MRE11 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7230 MRE11 "familial cancer of breast" MONDO_0016419 "Disgenet " 7230 MRE11 "Triple-Negative Breast Cancers" MONDO_0005494 "Disgenet " 7230 MRE11 "Cancer, Breast" MONDO_0007254 "Disgenet " 7230 MRE11 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 7230 MRE11 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 7230 MRE11 "ATAXIA-TELANGIECTASIA-LIKE DISORDER" MONDO_0011457 "Disgenet " 7230 MRE11 ATLD1 MONDO_0024557 "Disgenet " 7230 MRE11 "carcinoma of stomach (diagnosis)" MONDO_0004950 "Disgenet " 7230 MRE11 "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 7230 MRE11 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 7230 MRE11 Endometrium MONDO_0011962 "Disgenet " 7230 MRE11 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 7230 MRE11 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 7230 MRE11 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 7230 MRE11 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 7230 MRE11 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 727 ARTN "Depressions, Unipolar" MONDO_0002050 "Disgenet " 727 ARTN "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 727 ARTN "Atopic Eczema" MONDO_0011292 "Disgenet " 727 ARTN Depression MONDO_0002050 "Disgenet " 727 ARTN "Depressive neurosis" MONDO_0002050 "Disgenet " 728 ARVCF Schizophrenias MONDO_0005090 "Disgenet " 73 ABCG1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 73 ABCG1 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 7316 MS4A2 Asthma MONDO_0004979 "Disgenet " 7323 SEPTIN9 "AMYOTROPHY, HEREDITARY NEURALGIC" MONDO_0008076 "Disgenet " 7323 SEPTIN9 "neuralgic amyotrophy" MONDO:0017362 "ClinGen " 7323 SEPTIN9 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 7323 SEPTIN9 "Amyotrophies, Neuralgic" MONDO_0008076 "Disgenet " 7323 SEPTIN9 "Neuropathies, Shoulder-Girdle" MONDO_0006682 "Disgenet " 7325 MSH2 "Constitutional Mismatch Repair Deficiency Syndrome" MONDO_0010159 "Disgenet " 7325 MSH2 "Hereditary nonpolyposis colorectal carcinoma" "Disgenet " 7325 MSH2 "hereditary breast carcinoma" MONDO:0016419 "ClinGen " 7325 MSH2 "mismatch repair cancer syndrome 1" MONDO:0010159 "ClinGen " 7325 MSH2 "Lynch syndrome" MONDO:0005835 "ClinGen " 7325 MSH2 "MUIR-TORRE SYNDROME" MONDO_0008018 "Disgenet " 7325 MSH2 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 7325 MSH2 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 7325 MSH2 "Cancer, Breast" MONDO_0007254 "Disgenet " 7325 MSH2 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 7325 MSH2 "COLON POLYP" MONDO_0021400 "Disgenet " 7325 MSH2 Gliomas MONDO_0021042 "Disgenet " 7325 MSH2 "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 7325 MSH2 Glioblastoma MONDO_0018177 "Disgenet " 7325 MSH2 "familial cancer of breast" MONDO_0016419 "Disgenet " 7325 MSH2 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 7325 MSH2 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 7325 MSH2 HNPCC MONDO_0018630 "Disgenet " 7325 MSH2 "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 7325 MSH2 CRC MONDO_0005335 "Disgenet " 7325 MSH2 "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 7325 MSH2 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 7325 MSH2 "Cancer Syndrome, Hereditary" MONDO_0015356 "Disgenet " 7325 MSH2 FCC1 MONDO_0018630 "Disgenet " 7325 MSH2 "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 7325 MSH2 Sarcoma MONDO_0005089 "Disgenet " 7325 MSH2 "Hereditary Breast and Ovarian Cancer Syndrome" MONDO_0003582 "Disgenet " 7325 MSH2 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 7325 MSH2 "Neoplasm, Rectal" MONDO_0002165 "Disgenet " 7325 MSH2 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 7325 MSH2 "Colorectal Neoplasms, Hereditary Nonpolyposis" MONDO_0005835 "Disgenet " 7325 MSH2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 7325 MSH2 "Lynch Syndrome" MONDO_0005835 "Disgenet " 7325 MSH2 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 7326 MSH3 CRC MONDO_0005335 "Disgenet " 7326 MSH3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7326 MSH3 "familial adenomatous polyposis 4" MONDO:0044300 "ClinGen " 7326 MSH3 "Lynch syndrome" MONDO:0005835 "ClinGen " 7326 MSH3 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 7326 MSH3 "Adenomatous Polyposis Coli" MONDO_0021056 "Disgenet " 7326 MSH3 "Lynch Syndrome" MONDO_0005835 "Disgenet " 7326 MSH3 "FAMILIAL ADENOMATOUS POLYPOSIS 4" MONDO_0044300 "Disgenet " 7326 MSH3 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 7326 MSH3 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 7326 MSH3 "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 7326 MSH3 Endometrium MONDO_0011962 "Disgenet " 7328 MSH5 "PREMATURE OVARIAN FAILURE 13" MONDO_0044317 "Disgenet " 7328 MSH5 Azoospermia MONDO_0100459 "Disgenet " 7329 MSH6 CRC MONDO_0005335 "Disgenet " 7329 MSH6 "Lynch Syndrome" MONDO_0005835 "Disgenet " 7329 MSH6 "Colorectal Neoplasms, Hereditary Nonpolyposis" MONDO_0005835 "Disgenet " 7329 MSH6 "hereditary breast carcinoma" MONDO:0016419 "ClinGen " 7329 MSH6 "Lynch syndrome" MONDO:0005835 "ClinGen " 7329 MSH6 "mismatch repair cancer syndrome 1" MONDO:0010159 "ClinGen " 7329 MSH6 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 7329 MSH6 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 7329 MSH6 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 7329 MSH6 "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 7329 MSH6 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 7329 MSH6 Endometrium MONDO_0011962 "Disgenet " 7329 MSH6 "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 7329 MSH6 "Constitutional Mismatch Repair Deficiency Syndrome" MONDO_0010159 "Disgenet " 7329 MSH6 "Cancer, Breast" MONDO_0007254 "Disgenet " 7329 MSH6 "Familial Malignant Neoplasm" "Disgenet " 7329 MSH6 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 7329 MSH6 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 7329 MSH6 "Hereditary Breast and Ovarian Cancer Syndrome" MONDO_0003582 "Disgenet " 7329 MSH6 "Cancer Syndrome, Hereditary" MONDO_0015356 "Disgenet " 7329 MSH6 "Colonic adenocarcinoma" MONDO_0005401 "Disgenet " 7329 MSH6 "Adrenal cortical carcinoma" MONDO_0006639 "Disgenet " 7329 MSH6 "ovarian epithelial cancer" MONDO_0005140 "Disgenet " 7329 MSH6 Leukemias MONDO_0005059 "Disgenet " 7329 MSH6 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 7329 MSH6 "familial cancer of breast" MONDO_0016419 "Disgenet " 7329 MSH6 "COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5" MONDO_0013710 "Disgenet " 7329 MSH6 HNPCC MONDO_0018630 "Disgenet " 7330 MSI1 "Cancer, Breast" MONDO_0007254 "Disgenet " 735 ASAH1 "ASAH1-related sphingolipidosis" MONDO:0100524 "ClinGen " 735 ASAH1 "FARBER LIPOGRANULOMATOSIS" MONDO_0009218 "Disgenet " 735 ASAH1 "Jankovic Rivera syndrome" MONDO_0008045 "Disgenet " 735 ASAH1 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 735 ASAH1 Schizophrenias MONDO_0005090 "Disgenet " 7372 MSMB "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7373 MSN "IMMUNODEFICIENCY 50" MONDO_0010514 "Disgenet " 7373 MSN "combined immunodeficiency due to moesin deficiency" MONDO:0010514 "ClinGen " 7376 MSR1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 7376 MSR1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7376 MSR1 "Barrett Esophagus" MONDO_0013662 "Disgenet " 7376 MSR1 "Hereditary prostate cancer" MONDO_0023122 "Disgenet " 7377 MSRA Schizophrenias MONDO_0005090 "Disgenet " 7380 MST1 "primary sclerosing cholangitis (diagnosis)" MONDO_0018646 "Disgenet " 7380 MST1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 7380 MST1 "Ulcerative colitis" MONDO_0005101 "Disgenet " 739 ASCL2 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 7391 MSX1 "Cleft Lip" MONDO_0004747 "Disgenet " 7391 MSX1 Anodontia MONDO_0005486 "Disgenet " 7391 MSX1 "Cleft palate with cleft lip" MONDO_0016044 "Disgenet " 7391 MSX1 HYD1 MONDO_0008797 "Disgenet " 7391 MSX1 "tooth and nail syndrome" MONDO:0008582 "ClinGen " 7391 MSX1 "tooth agenesis, selective, 1" MONDO:0007129 "ClinGen " 7391 MSX1 "OROFACIAL CLEFT 5" MONDO_0012142 "Disgenet " 7391 MSX1 "Deletion of short arm of chromosome 4" MONDO_0008684 "Disgenet " 7391 MSX1 "Abnormalities, Craniofacial" "Disgenet " 7391 MSX1 Craniosynostosis MONDO_0015469 "Disgenet " 7391 MSX1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 7391 MSX1 Oligodontia MONDO_0008797 "Disgenet " 7391 MSX1 "Cleft Palate" MONDO_0016064 "Disgenet " 7391 MSX1 "WITKOP SYNDROME" MONDO_0008582 "Disgenet " 7392 MSX2 Craniosynostosis MONDO_0015469 "Disgenet " 7392 MSX2 "PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA" MONDO_0008198 "Disgenet " 7392 MSX2 "craniosynostosis 2" MONDO:0011481 "ClinGen " 7392 MSX2 "parietal foramina" MONDO:0018953 "ClinGen " 7392 MSX2 "Abnormalities, Craniofacial" "Disgenet " 7392 MSX2 CSB MONDO_0011481 "Disgenet " 7392 MSX2 "Symmetrical, oval parietal bone defects" MONDO_0018953 "Disgenet " 74 ABCG2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 74 ABCG2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 74 ABCG2 Hyperuricemia "Disgenet " 74 ABCG2 Gout MONDO_0005393 "Disgenet " 74 ABCG2 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 74 ABCG2 "Diseases, Nervous System" MONDO_0005071 "Disgenet " 74 ABCG2 neurotoxicity MONDO_0005527 "Disgenet " 74 ABCG2 Adenoma MONDO_0004972 "Disgenet " 74 ABCG2 "Multiple Myeloma" MONDO_0009693 "Disgenet " 74 ABCG2 "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 74 ABCG2 "Arthritides, Gouty" MONDO_0005393 "Disgenet " 74 ABCG2 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 74 ABCG2 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 74 ABCG2 "B Cell Lymphoma" MONDO_0015759 "Disgenet " 74 ABCG2 "Heart failure" MONDO_0005252 "Disgenet " 74 ABCG2 "Congestive heart failure" MONDO_0005252 "Disgenet " 74 ABCG2 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 7406 MT2A "lung injury" "Disgenet " 7406 MT2A "Liver cell carcinoma" MONDO_0007256 "Disgenet " 7406 MT2A "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7406 MT2A "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 7406 MT2A "Diabetes Mellitus" MONDO_0005015 "Disgenet " 7406 MT2A "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 7408 MT3 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 7408 MT3 "Breast Neoplasms" MONDO_0021100 "Disgenet " 7408 MT3 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 7408 MT3 "Alzheimer Disease" MONDO_0012630 "Disgenet " 7413 MTAP "diaphyseal medullary stenosis-bone malignancy syndrome" MONDO:0007205 "ClinGen " 7413 MTAP Melanoma MONDO_0005105 "Disgenet " 7413 MTAP "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7413 MTAP "DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA" MONDO_0007205 "Disgenet " 7413 MTAP Mole MONDO_0005073 "Disgenet " 7414 MT-ATP6 "Leigh syndrome" MONDO:0009723 "ClinGen " 7414 MT-ATP6 "mitochondrial disease" MONDO:0044970 "ClinGen " 7414 MT-ATP6 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 7414 MT-ATP6 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 7414 MT-ATP6 "Parkinson Disease" MONDO_0014796 "Disgenet " 7414 MT-ATP6 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 7414 MT-ATP6 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 7414 MT-ATP6 "NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA" MONDO_0010794 "Disgenet " 7414 MT-ATP6 "Leber's optic atrophy" MONDO_0010788 "Disgenet " 7414 MT-ATP6 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 7414 MT-ATP6 "Leigh disease, maternally inherited" MONDO_0016814 "Disgenet " 7414 MT-ATP6 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 7415 MT-ATP8 "mitochondrial disease" MONDO:0044970 "ClinGen " 7415 MT-ATP8 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 7415 MT-ATP8 "NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA" MONDO_0010794 "Disgenet " 7417 MTBP "Liver cell carcinoma" MONDO_0007256 "Disgenet " 7419 MT-CO1 Carcinoma MONDO_0004993 "Disgenet " 7419 MT-CO1 "mitochondrial disease" MONDO:0044970 "ClinGen " 7419 MT-CO1 "Leigh syndrome" MONDO:0009723 "ClinGen " 7419 MT-CO1 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 7419 MT-CO1 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 7419 MT-CO1 CRC MONDO_0005335 "Disgenet " 7419 MT-CO1 "MELAS Syndrome" MONDO_0010789 "Disgenet " 7419 MT-CO1 Cardiomyopathy MONDO_0004994 "Disgenet " 7421 MT-CO2 Neuroblastoma MONDO_0005072 "Disgenet " 7421 MT-CO2 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 7421 MT-CO2 "Ischemic stroke" "Disgenet " 7421 MT-CO2 "mitochondrial disease" MONDO:0044970 "ClinGen " 7421 MT-CO2 "Leigh syndrome" MONDO:0009723 "ClinGen " 7421 MT-CO2 CRC MONDO_0005335 "Disgenet " 7421 MT-CO2 Depression MONDO_0002050 "Disgenet " 7421 MT-CO2 "Depressive neurosis" MONDO_0002050 "Disgenet " 7421 MT-CO2 "MELAS Syndrome" MONDO_0010789 "Disgenet " 7422 MT-CO3 "MELAS Syndrome" MONDO_0010789 "Disgenet " 7422 MT-CO3 "Leber's optic atrophy" MONDO_0010788 "Disgenet " 7422 MT-CO3 "mitochondrial disease" MONDO:0044970 "ClinGen " 7422 MT-CO3 "Leigh syndrome" MONDO:0009723 "ClinGen " 7427 MT-CYB "mitochondrial disease" MONDO:0044970 "ClinGen " 7427 MT-CYB "Mitochondrial Encephalomyopathies" MONDO_0004675 "Disgenet " 7427 MT-CYB Obesity MONDO_0019182 "Disgenet " 7427 MT-CYB "Arachnocytosis of the Myocardium" MONDO_0010771 "Disgenet " 7427 MT-CYB "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 7427 MT-CYB "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 7427 MT-CYB "Leber's optic atrophy" MONDO_0010788 "Disgenet " 7427 MT-CYB "Mitochondrial Myopathies" MONDO_0009637 "Disgenet " 7427 MT-CYB "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 7432 MTHFD1 "Bifida, Spina" MONDO_0019351 "Disgenet " 7432 MTHFD1 "COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA" MONDO_0060611 "Disgenet " 7432 MTHFD1 "Down Syndrome" MONDO_0008608 "Disgenet " 7432 MTHFD1 "Combined Immunodeficiencies, Severe" MONDO_0015974 "Disgenet " 7432 MTHFD1 "Cleft Palate" MONDO_0016064 "Disgenet " 7436 MTHFR "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 7436 MTHFR "Hepatitis B" MONDO_0005344 "Disgenet " 7436 MTHFR "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 7436 MTHFR "GRAVES DISEASE" MONDO_0005364 "Disgenet " 7436 MTHFR "Hepatic vein thrombosis" MONDO_0010947 "Disgenet " 7436 MTHFR "malignant squamous cell neoplasm of oral cavity (diagnosis)" MONDO_0004958 "Disgenet " 7436 MTHFR "Pigmentary glaucoma" MONDO_0005338 "Disgenet " 7436 MTHFR Asthma MONDO_0004979 "Disgenet " 7436 MTHFR "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 7436 MTHFR "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 7436 MTHFR "Progressive cognitive decline" "Disgenet " 7436 MTHFR "Disease, Graft-Versus-Host" MONDO_0013730 "Disgenet " 7436 MTHFR Cholangiocarcinoma MONDO_0019087 "Disgenet " 7436 MTHFR "Angle Closure Glaucoma" MONDO_0001744 "Disgenet " 7436 MTHFR "Peripheral Arterial Diseases" MONDO_0005386 "Disgenet " 7436 MTHFR Malnutrition MONDO_0006873 "Disgenet " 7436 MTHFR "Artery Stenoses, Carotid" MONDO_0001612 "Disgenet " 7436 MTHFR "Diseases, Nervous System" MONDO_0005071 "Disgenet " 7436 MTHFR "Fallot Tetralogy" MONDO_0008542 "Disgenet " 7436 MTHFR "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 7436 MTHFR "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 7436 MTHFR "Ankylosing spondylitis" MONDO_0005306 "Disgenet " 7436 MTHFR "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 7436 MTHFR "Parkinson Disease" MONDO_0014796 "Disgenet " 7436 MTHFR Anemia MONDO_0002280 "Disgenet " 7436 MTHFR Alcoholism MONDO_0002046 "Disgenet " 7436 MTHFR "Cleft Lip" MONDO_0004747 "Disgenet " 7436 MTHFR "Dementia, Vascular" MONDO_0004648 "Disgenet " 7436 MTHFR "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 7436 MTHFR hypernephroma MONDO_0005086 "Disgenet " 7436 MTHFR Nephropathy MONDO_0005240 "Disgenet " 7436 MTHFR "Anemia, Sickle Cell" MONDO_0011382 "Disgenet " 7436 MTHFR "Global developmental delay" "Disgenet " 7436 MTHFR "Renal cell carcinoma" MONDO_0005549 "Disgenet " 7436 MTHFR "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7436 MTHFR "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 7436 MTHFR "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 7436 MTHFR "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 7436 MTHFR "Fatty Liver" MONDO_0004790 "Disgenet " 7436 MTHFR Atherosclerosis MONDO_0005311 "Disgenet " 7436 MTHFR "Defect, Neural Tube" MONDO_0018075 "Disgenet " 7436 MTHFR Schizophrenias MONDO_0005090 "Disgenet " 7436 MTHFR "Cardiovascular Disease" MONDO_0004995 "Disgenet " 7436 MTHFR "Bifida, Spina" MONDO_0019351 "Disgenet " 7436 MTHFR hyperhomocysteinemia MONDO_0004743 "Disgenet " 7436 MTHFR "Cerebrovascular accident" MONDO_0005098 "Disgenet " 7436 MTHFR "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 7436 MTHFR "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 7436 MTHFR "MIGRAINE HEADACHE" MONDO_0005277 "Disgenet " 7436 MTHFR Depression MONDO_0002050 "Disgenet " 7436 MTHFR "Coronary Disease" MONDO_0005010 "Disgenet " 7436 MTHFR "Cervical Neoplasm" MONDO_0021230 "Disgenet " 7436 MTHFR "Bipolar Disorders" MONDO_0004985 "Disgenet " 7436 MTHFR "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 7436 MTHFR "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 7436 MTHFR "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 7436 MTHFR "Childhood autism" MONDO_0005260 "Disgenet " 7436 MTHFR "homocystinuria due to methylene tetrahydrofolate reductase deficiency" MONDO:0009353 "ClinGen " 7436 MTHFR Leukopenia MONDO_0003785 "Disgenet " 7436 MTHFR Lymphomas MONDO_0005062 "Disgenet " 7436 MTHFR "Alcoholic Intoxication" "Disgenet " 7436 MTHFR Meningomyelocele MONDO_0017069 "Disgenet " 7436 MTHFR Neutropenia MONDO_0001475 "Disgenet " 7436 MTHFR "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 7436 MTHFR "Depressions, Unipolar" MONDO_0002050 "Disgenet " 7436 MTHFR "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 7436 MTHFR "Occlusion, Retinal Vein" MONDO_0006951 "Disgenet " 7436 MTHFR "Malignant neoplasm of cervix uteri" MONDO_0002974 "Disgenet " 7436 MTHFR "Liver cell carcinoma" MONDO_0007256 "Disgenet " 7436 MTHFR "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 7436 MTHFR "Depressive neurosis" MONDO_0002050 "Disgenet " 7436 MTHFR "Alzheimer Disease" MONDO_0012630 "Disgenet " 7436 MTHFR "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 7436 MTHFR "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 7436 MTHFR "Diseases, Vascular" MONDO_0005385 "Disgenet " 7436 MTHFR "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 7436 MTHFR "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 7436 MTHFR "Cerebral Infarction" MONDO_0002679 "Disgenet " 7436 MTHFR "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 7436 MTHFR "Migraine with aura" MONDO_0005475 "Disgenet " 7436 MTHFR "Aortic Aneurysm, Abdominal" MONDO_0005350 "Disgenet " 7436 MTHFR "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 7436 MTHFR "Portal vein thrombosis" MONDO_0001339 "Disgenet " 7436 MTHFR "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 7436 MTHFR "KIDNEY FAILURE" MONDO_0001106 "Disgenet " 7436 MTHFR "Multiple Myeloma" MONDO_0009693 "Disgenet " 7436 MTHFR Thrombocytopenia MONDO_0002049 "Disgenet " 7436 MTHFR "Neoplasm, Rectal" MONDO_0002165 "Disgenet " 7436 MTHFR "Lung Neoplasm" MONDO_0002732 "Disgenet " 7436 MTHFR "Breast Neoplasms" MONDO_0021100 "Disgenet " 7436 MTHFR "Methylenetetrahydrofolate reductase deficiency" MONDO_0009353 "Disgenet " 7436 MTHFR "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 7436 MTHFR ALL MONDO_0004967 "Disgenet " 7436 MTHFR Thrombophilia MONDO_0002305 "Disgenet " 7436 MTHFR "Down Syndrome" MONDO_0008608 "Disgenet " 7436 MTHFR "Infertility, Male" MONDO_0005372 "Disgenet " 7436 MTHFR "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 7437 MTHFS "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION" MONDO_0032705 "Disgenet " 7448 MTM1 "X-linked centronuclear myopathy" MONDO_0010683 "Disgenet " 7448 MTM1 "CONGEN NONPROGRESSIVE MYOPATHIES" MONDO_0002921 "Disgenet " 7448 MTM1 "Neonatal hypotonia" "Disgenet " 7448 MTM1 "Centronuclear myopathy" MONDO_0018947 "Disgenet " 7448 MTM1 Myopathy MONDO_0003939 "Disgenet " 7448 MTM1 "X-linked myotubular myopathy" MONDO:0010683 "ClinGen " 745 ASIP "Neoplasm, Skin" MONDO_0002531 "Disgenet " 745 ASIP Melanoma MONDO_0005105 "Disgenet " 7450 MTMR2 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 7450 MTMR2 "demyelinating hereditary motor and sensory neuropathy" MONDO:0018776 "ClinGen " 7450 MTMR2 CMT4B MONDO_0011066 "Disgenet " 7455 MT-ND1 "MELAS Syndrome" MONDO_0010789 "Disgenet " 7455 MT-ND1 "Leber's optic atrophy" MONDO_0010788 "Disgenet " 7455 MT-ND1 "mitochondrial disease" MONDO:0044970 "ClinGen " 7455 MT-ND1 "Global developmental delay" "Disgenet " 7455 MT-ND1 "Leigh syndrome" MONDO:0009723 "ClinGen " 7455 MT-ND1 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 7455 MT-ND1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 7455 MT-ND1 "Syndrome, Wolfram" MONDO_0018105 "Disgenet " 7455 MT-ND1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 7455 MT-ND1 "Optic neuropathy" MONDO_0002135 "Disgenet " 7455 MT-ND1 "Parkinson Disease" MONDO_0014796 "Disgenet " 7455 MT-ND1 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 7455 MT-ND1 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 7455 MT-ND1 "MITOCHONDRIAL COMPLEX I DEFICIENCY" MONDO_0100133 "Disgenet " 7455 MT-ND1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 7456 MT-ND2 "mitochondrial disease" MONDO:0044970 "ClinGen " 7456 MT-ND2 "Leigh syndrome" MONDO:0009723 "ClinGen " 7456 MT-ND2 "Leber's optic atrophy" MONDO_0010788 "Disgenet " 7456 MT-ND2 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 7456 MT-ND2 "MITOCHONDRIAL COMPLEX I DEFICIENCY" MONDO_0100133 "Disgenet " 7456 MT-ND2 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 7456 MT-ND2 "Alzheimer Disease" MONDO_0012630 "Disgenet " 7456 MT-ND2 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 7456 MT-ND2 "Parkinson Disease" MONDO_0014796 "Disgenet " 7458 MT-ND3 "Leber's optic atrophy" MONDO_0010788 "Disgenet " 7458 MT-ND3 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 7458 MT-ND3 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 7458 MT-ND3 "Leigh syndrome" MONDO:0009723 "ClinGen " 7458 MT-ND3 "mitochondrial disease" MONDO:0044970 "ClinGen " 7458 MT-ND3 "MITOCHONDRIAL COMPLEX I DEFICIENCY" MONDO_0100133 "Disgenet " 7458 MT-ND3 "Parkinson Disease" MONDO_0014796 "Disgenet " 7459 MT-ND4 "Leber's optic atrophy" MONDO_0010788 "Disgenet " 7459 MT-ND4 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 7459 MT-ND4 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 7459 MT-ND4 "Leigh syndrome" MONDO:0009723 "ClinGen " 7459 MT-ND4 "mitochondrial disease" MONDO:0044970 "ClinGen " 7459 MT-ND4 Schizophrenias MONDO_0005090 "Disgenet " 7459 MT-ND4 "Atrophy, Optic" MONDO_0003608 "Disgenet " 7459 MT-ND4 "Optic neuropathy" MONDO_0002135 "Disgenet " 7459 MT-ND4 "MELAS Syndrome" MONDO_0010789 "Disgenet " 7459 MT-ND4 Dementia MONDO_0001627 "Disgenet " 746 ASL "Argininosuccinate lyase deficiency" MONDO_0008815 "Disgenet " 746 ASL "argininosuccinic aciduria" MONDO:0008815 "ClinGen " 7460 MT-ND4L "mitochondrial disease" MONDO:0044970 "ClinGen " 7460 MT-ND4L "Leber's optic atrophy" MONDO_0010788 "Disgenet " 7461 MT-ND5 "MELAS Syndrome" MONDO_0010789 "Disgenet " 7461 MT-ND5 "Leber's optic atrophy" MONDO_0010788 "Disgenet " 7461 MT-ND5 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 7461 MT-ND5 "Leigh syndrome" MONDO:0009723 "ClinGen " 7461 MT-ND5 "mitochondrial disease" MONDO:0044970 "ClinGen " 7461 MT-ND5 "MERRF Syndrome" MONDO_0010790 "Disgenet " 7461 MT-ND5 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 7462 MT-ND6 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 7462 MT-ND6 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 7462 MT-ND6 "Leber's optic atrophy" MONDO_0010788 "Disgenet " 7462 MT-ND6 Parkinsonism MONDO_0021095 "Disgenet " 7462 MT-ND6 "MELAS Syndrome" MONDO_0010789 "Disgenet " 7462 MT-ND6 "mitochondrial disease" MONDO:0044970 "ClinGen " 7462 MT-ND6 "Leigh syndrome" MONDO:0009723 "ClinGen " 7463 MTNR1A "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 7463 MTNR1A Schizophrenias MONDO_0005090 "Disgenet " 7464 MTNR1B "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 7464 MTNR1B "Ovary Syndrome, Polycystic" MONDO_0008487 "Disgenet " 7464 MTNR1B "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 7467 MTTP "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 7467 MTTP "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 7467 MTTP "High blood pressure" MONDO_0005044 "Disgenet " 7467 MTTP Hyperinsulinism MONDO_0002177 "Disgenet " 7467 MTTP "Fatty Liver, Alcoholic" MONDO_0021104 "Disgenet " 7467 MTTP "Essential Hypercholesterolemia" MONDO_0005439 "Disgenet " 7467 MTTP "Fatty Liver" MONDO_0004790 "Disgenet " 7467 MTTP Obesity MONDO_0019182 "Disgenet " 7467 MTTP Abetalipoproteinemia MONDO_0008692 "Disgenet " 7468 MTR "Breast Neoplasms" MONDO_0021100 "Disgenet " 7468 MTR "Bifida, Spina" MONDO_0019351 "Disgenet " 7468 MTR "Infertility, Male" MONDO_0005372 "Disgenet " 7468 MTR "Depressive neurosis" MONDO_0002050 "Disgenet " 7468 MTR Depression MONDO_0002050 "Disgenet " 7468 MTR "Cleft Palate" MONDO_0016064 "Disgenet " 7468 MTR "Alcoholic Intoxication" "Disgenet " 7468 MTR Lymphomas MONDO_0005062 "Disgenet " 7468 MTR "High blood pressure" MONDO_0005044 "Disgenet " 7468 MTR "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 7468 MTR "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 7468 MTR Epilepsies MONDO_0005027 "Disgenet " 7468 MTR ALL MONDO_0004967 "Disgenet " 7468 MTR Retinoblastoma MONDO_0008380 "Disgenet " 7468 MTR "Multiple Myeloma" MONDO_0009693 "Disgenet " 7468 MTR "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 7468 MTR hyperhomocysteinemia MONDO_0004743 "Disgenet " 7468 MTR "Childhood autism" MONDO_0005260 "Disgenet " 7468 MTR Homocystinuria MONDO_0004737 "Disgenet " 7468 MTR Schizophrenias MONDO_0005090 "Disgenet " 7468 MTR "methylcobalamin deficiency type cblG" MONDO:0009609 "ClinGen " 7468 MTR "Methylcobalamin Deficiency, CblG Type" MONDO_0009609 "Disgenet " 7468 MTR "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 7473 MTRR "methylcobalamin deficiency type cblE" MONDO:0009354 "ClinGen " 7473 MTRR Homocystinuria MONDO_0004737 "Disgenet " 7473 MTRR "Homocystinuria without methylmalonic aciduria (disorder)" MONDO_0018964 "Disgenet " 7473 MTRR hyperhomocysteinemia MONDO_0004743 "Disgenet " 7473 MTRR "Vitamin B12-Responsive Homocystinuria, CblE Type" MONDO_0009354 "Disgenet " 7473 MTRR "Bifida, Spina" MONDO_0019351 "Disgenet " 7473 MTRR "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 7473 MTRR "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 7473 MTRR "Multiple Myeloma" MONDO_0009693 "Disgenet " 7473 MTRR Anencephaly MONDO_0000819 "Disgenet " 7473 MTRR "Liver cell carcinoma" MONDO_0007256 "Disgenet " 7473 MTRR "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 7473 MTRR Meningiomas MONDO_0016642 "Disgenet " 7473 MTRR "Infertility, Male" MONDO_0005372 "Disgenet " 7473 MTRR ALL MONDO_0004967 "Disgenet " 750 ASMT "Childhood autism" MONDO_0005260 "Disgenet " 750 ASMT "Bipolar Disorders" MONDO_0004985 "Disgenet " 750 ASMT "Depressive neurosis" MONDO_0002050 "Disgenet " 750 ASMT Depression MONDO_0002050 "Disgenet " 7506 MTX2 "mandibuloacral dysplasia progeroid syndrome" MONDO:0030880 "ClinGen " 7506 MTX2 MDPS MONDO_0030880 "Disgenet " 7508 MUC1 "Multiple Myeloma" MONDO_0009693 "Disgenet " 7508 MUC1 "Cancer, Breast" MONDO_0007254 "Disgenet " 7508 MUC1 "Carcinoma, Pancreas Duct-Cell" MONDO_0005184 "Disgenet " 7508 MUC1 "Mesothelioma, malignant" MONDO_0006292 "Disgenet " 7508 MUC1 Mesothelioma MONDO_0005065 "Disgenet " 7508 MUC1 "tubulointerstitial kidney disease, autosomal dominant, 2" MONDO:0020726 "ClinGen " 7508 MUC1 "Mucinous adenocarcinoma" MONDO_0004957 "Disgenet " 7508 MUC1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 7508 MUC1 "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 7508 MUC1 "Dry eye syndrome" MONDO_0006733 "Disgenet " 7508 MUC1 ADMCKD1 MONDO_0008264 "Disgenet " 7508 MUC1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 7514 MUC4 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 7514 MUC4 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7516 MUC5B "Allergic Alveolitides, Extrinsic" MONDO_0017853 "Disgenet " 7516 MUC5B "Fibrosing alveolitis" MONDO_0800029 "Disgenet " 7518 MUC7 Asthma MONDO_0004979 "Disgenet " 752 GET3 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 7523 TRIM37 "mulibrey nanism" MONDO:0009664 "ClinGen " 7523 TRIM37 "MULIBREY NANISM" MONDO_0009664 "Disgenet " 7525 MUSK FADS MONDO_0008824 "Disgenet " 7525 MUSK "MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY" MONDO_0014587 "Disgenet " 7525 MUSK "CONGEN MYASTHENIA GRAVIS" MONDO_0018940 "Disgenet " 7525 MUSK "Myasthenia Gravis" MONDO_0009688 "Disgenet " 7526 MMUT "Error, Inborn Metabolism" MONDO_0019052 "Disgenet " 7526 MMUT "methylmalonic aciduria" MONDO_0002012 "Disgenet " 7526 MMUT "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency" MONDO:0009612 "ClinGen " 7526 MMUT "METHYLMALONIC ACIDURIA, mut(0) TYPE" MONDO_0009612 "Disgenet " 7526 MMUT "METHYLMALONIC ACIDURIA, mut(-) TYPE" MONDO_0009612 "Disgenet " 7526 MMUT Methymalonicaciduria MONDO_0002012 "Disgenet " 7526 MMUT "METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY" MONDO_0009612 "Disgenet " 7527 MUTYH "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 7527 MUTYH "Adenomatous Polyposis Coli" MONDO_0021056 "Disgenet " 7527 MUTYH MAP MONDO_0012041 "Disgenet " 7527 MUTYH "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 7527 MUTYH Endometrium MONDO_0011962 "Disgenet " 7527 MUTYH "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 7527 MUTYH "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 7527 MUTYH "colorectal cancer" MONDO:0005575 "ClinGen " 7527 MUTYH "familial ovarian cancer" MONDO:0016248 "ClinGen " 7527 MUTYH "familial ovarian cancer" MONDO:0016248 "ClinGen " 7527 MUTYH "familial adenomatous polyposis 2" MONDO:0012041 "ClinGen " 7527 MUTYH "hereditary breast carcinoma" MONDO:0016419 "ClinGen " 7527 MUTYH "hereditary breast carcinoma" MONDO:0016419 "ClinGen " 7527 MUTYH "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 7527 MUTYH "carcinoma of stomach (diagnosis)" MONDO_0004950 "Disgenet " 7527 MUTYH "colorectal polyps" MONDO_0021392 "Disgenet " 7527 MUTYH "Cancer Syndrome, Hereditary" MONDO_0015356 "Disgenet " 7527 MUTYH "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 7527 MUTYH "Cancer, Breast" MONDO_0007254 "Disgenet " 7527 MUTYH "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 7529 MVD Porokeratosis MONDO_0006602 "Disgenet " 7529 MVD "disseminated superficial actinic porokeratosis (DSAP) (diagnosis)" MONDO_0019212 "Disgenet " 7529 MVD "Linear Porokeratosis" MONDO_0006602 "Disgenet " 753 ASNS "ASPARAGINE SYNTHETASE DEFICIENCY" MONDO_0014258 "Disgenet " 753 ASNS "congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome" MONDO:0014258 "ClinGen " 7530 MVK "mevalonate kinase deficiency" MONDO:0017708 "ClinGen " 7530 MVK "Mibelli Porokeratosis" MONDO_0008290 "Disgenet " 7530 MVK "Liver cell carcinoma" MONDO_0007256 "Disgenet " 7530 MVK "Autoinflammatory disease" MONDO_0019751 "Disgenet " 7530 MVK "Deficiency of mevalonate kinase" MONDO_0017708 "Disgenet " 7530 MVK "HYPER-IgD SYNDROME" MONDO_0012481 "Disgenet " 7530 MVK "MEVALONIC ACIDURIA" MONDO_0012481 "Disgenet " 7530 MVK Porokeratosis MONDO_0006602 "Disgenet " 7530 MVK "disseminated superficial actinic porokeratosis (DSAP) (diagnosis)" MONDO_0019212 "Disgenet " 7532 MX1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7532 MX1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 7532 MX1 "Alopecia Areata" MONDO_0005340 "Disgenet " 7532 MX1 "Diseases, Liver" MONDO_0005154 "Disgenet " 7532 MX1 Flu MONDO_0005812 "Disgenet " 7533 MX2 Melanoma MONDO_0005105 "Disgenet " 7534 MXI1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7534 MXI1 Neurofibrosarcoma MONDO_0002675 "Disgenet " 7534 MXI1 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 7534 MXI1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 7547 MYBL1 Gliomas MONDO_0021042 "Disgenet " 7547 MYBL1 "Adenoid cystic carcinoma" MONDO_0003175 "Disgenet " 7549 MYBPC1 "distal arthrogryposis" MONDO_0019942 "Disgenet " 7549 MYBPC1 DA1B MONDO_0013698 "Disgenet " 7549 MYBPC1 MYOTREM MONDO_0032797 "Disgenet " 7549 MYBPC1 DA1 MONDO_0019942 "Disgenet " 7551 MYBPC3 "Asymmetric Septal Hypertrophy" "Disgenet " 7551 MYBPC3 "Arrhythmogenic right ventricular dysplasia" MONDO_0016587 "Disgenet " 7551 MYBPC3 "Hypertrophy, Left Ventricular" "Disgenet " 7551 MYBPC3 "Left ventricular noncompaction" MONDO_0018901 "Disgenet " 7551 MYBPC3 CMH1 MONDO_0024573 "Disgenet " 7551 MYBPC3 CMH4 MONDO_0007268 "Disgenet " 7551 MYBPC3 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 7551 MYBPC3 "LEFT VENTRICULAR NONCOMPACTION 10" MONDO_0014163 "Disgenet " 7551 MYBPC3 "Polymorphic catecholergic ventricular tachycardia" MONDO_0017990 "Disgenet " 7551 MYBPC3 CMD1A MONDO_0005021 "Disgenet " 7551 MYBPC3 "Long QT Syndrome" MONDO_0002442 "Disgenet " 7551 MYBPC3 "Brugada Syndrome" MONDO_0015263 "Disgenet " 7551 MYBPC3 "Cardiomyopathy, Hypertrophic, Familial" MONDO_0024573 "Disgenet " 7551 MYBPC3 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 7551 MYBPC3 Cardiomyopathy MONDO_0004994 "Disgenet " 7551 MYBPC3 "congenital heart disease" MONDO:0005453 "ClinGen " 7551 MYBPC3 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 7551 MYBPC3 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 7551 MYBPC3 "arrhythmogenic right ventricular cardiomyopathy" MONDO:0016587 "ClinGen " 7551 MYBPC3 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 7553 MYC "Neuroectodermal Tumors" MONDO_0005462 "Disgenet " 7553 MYC "Fatty Liver" MONDO_0004790 "Disgenet " 7553 MYC "Hodgkin's granuloma" MONDO_0004952 "Disgenet " 7553 MYC Neuroblastoma MONDO_0005072 "Disgenet " 7553 MYC "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 7553 MYC Adenocarcinoma MONDO_0004970 "Disgenet " 7553 MYC "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 7553 MYC Glioblastoma MONDO_0018177 "Disgenet " 7553 MYC "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 7553 MYC "Polycystic kidney" MONDO_0020642 "Disgenet " 7553 MYC Angiosarcomas MONDO_0016982 "Disgenet " 7553 MYC "adenocarcinoma of prostate gland" MONDO_0005082 "Disgenet " 7553 MYC "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 7553 MYC Carcinoma MONDO_0004993 "Disgenet " 7553 MYC "Liver Neoplasm" MONDO_0002691 "Disgenet " 7553 MYC "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 7553 MYC "Cervical Neoplasm" MONDO_0021230 "Disgenet " 7553 MYC "Precursor T-cell lymphoblastic leukaemia" MONDO_0020512 "Disgenet " 7553 MYC "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 7553 MYC "CARCINOMA OF ESOPHAGUS" MONDO_0007576 "Disgenet " 7553 MYC "Neuroectodermal Tumor, Primitive" MONDO_0005462 "Disgenet " 7553 MYC "Malignant melanoma of skin" MONDO_0005012 "Disgenet " 7553 MYC "Cancer, Breast" MONDO_0007254 "Disgenet " 7553 MYC "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 7553 MYC "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 7553 MYC "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 7553 MYC "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 7553 MYC Medulloblastoma MONDO_0007959 "Disgenet " 7553 MYC "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 7553 MYC "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 7553 MYC "Burkitt Lymphoma" MONDO_0007243 "Disgenet " 7553 MYC "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 7553 MYC "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 7553 MYC "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 7553 MYC "Lung Neoplasm" MONDO_0002732 "Disgenet " 7553 MYC "Liver cell carcinoma" MONDO_0007256 "Disgenet " 7553 MYC "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 7553 MYC "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 7553 MYC "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7553 MYC Epithelioma MONDO_0004993 "Disgenet " 7553 MYC "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 7553 MYC "High-grade B-cell lymphoma, with MYC and BCL2 and/or BCL6 rearrangements" MONDO_0018813 "Disgenet " 7555 MYCL "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 756 ASPA "Canavan disease" MONDO:0010079 "ClinGen " 756 ASPA "Canavan Disease" MONDO_0010079 "Disgenet " 7562 MYD88 "Macroglobulinemia, Waldenstrom's" MONDO_0100280 "Disgenet " 7562 MYD88 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 7562 MYD88 "Primary Testicular Lymphoma" MONDO_0001472 "Disgenet " 7562 MYD88 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 7562 MYD88 Pneumonia MONDO_0005249 "Disgenet " 7562 MYD88 CRC MONDO_0005335 "Disgenet " 7562 MYD88 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 7562 MYD88 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 7562 MYD88 "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 7562 MYD88 Microglioma MONDO_0002571 "Disgenet " 7562 MYD88 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 7562 MYD88 MYD88D MONDO_0012839 "Disgenet " 7562 MYD88 "Brill Symmers Disease" MONDO_0018906 "Disgenet " 7562 MYD88 "Lymphoma, Large-Cell, Follicular" MONDO_0018906 "Disgenet " 7562 MYD88 "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 7562 MYD88 "Multiple Myeloma" MONDO_0009693 "Disgenet " 7562 MYD88 Lymphomas MONDO_0005062 "Disgenet " 7565 MYF5 "Rib abnormalities" "Disgenet " 7565 MYF5 Scolioses MONDO_0005392 "Disgenet " 7565 MYF5 "External Ophthalmoplegia" MONDO_0003425 "Disgenet " 7568 MYH10 "complex neurodevelopmental disorder with or without congenital anomalies" MONDO:0100465 "ClinGen " 7569 MYH11 "Familial TAAD (thoracic aortic aneurysm aortic dissection)" MONDO_0019625 "Disgenet " 7569 MYH11 "familial thoracic aortic aneurysm and aortic dissection" MONDO:0019625 "ClinGen " 7569 MYH11 "congenital heart disease" MONDO:0005453 "ClinGen " 7569 MYH11 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 7569 MYH11 "Berdon syndrome" MONDO_0100354 "Disgenet " 7569 MYH11 "Patent ductus arteriosus" MONDO_0011827 "Disgenet " 7569 MYH11 "Aortic Aneurysm, Thoracic" MONDO_0005396 "Disgenet " 7569 MYH11 "AORTIC ANEURYSM, FAMILIAL THORACIC 1" MONDO_0024559 "Disgenet " 7569 MYH11 "Aneurysms, Aortic" MONDO_0005160 "Disgenet " 7569 MYH11 "Acute myelomonocytic leukemia" MONDO_0018871 "Disgenet " 7569 MYH11 "acute myelomonocytic leukemia with abnormal marrow eosinophils (diagnosis)" MONDO_0020316 "Disgenet " 7569 MYH11 "Chronic intestinal pseudoobstruction" MONDO_0017574 "Disgenet " 757 ASPH "Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism" MONDO_0011106 "Disgenet " 757 ASPH Cholangiocarcinoma MONDO_0019087 "Disgenet " 7572 MYH2 "INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT" MONDO_0011577 "Disgenet " 7572 MYH2 Myopathy MONDO_0003939 "Disgenet " 7572 MYH2 "myopathy, proximal, and ophthalmoplegia" MONDO:0011577 "ClinGen " 7572 MYH2 "myopathy, proximal, and ophthalmoplegia" MONDO:0011577 "ClinGen " 7573 MYH3 SHS MONDO_0011128 "Disgenet " 7573 MYH3 DA2B3 MONDO_0032751 "Disgenet " 7573 MYH3 CPSKF1B MONDO_0020746 "Disgenet " 7573 MYH3 "SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME" MONDO_0010094 "Disgenet " 7573 MYH3 "Multiple pterygium syndrome" MONDO_0009926 "Disgenet " 7573 MYH3 "distal arthrogryposis" MONDO_0019942 "Disgenet " 7573 MYH3 "ARTHROGRYPOSIS, DISTAL, TYPE 2A" MONDO_0013641 "Disgenet " 7573 MYH3 "Arthrogryposis, Distal, Type 8" MONDO_0020937 "Disgenet " 7573 MYH3 DA1 MONDO_0019942 "Disgenet " 7573 MYH3 Arthrogryposes MONDO_0015168 "Disgenet " 7576 MYH6 "ATRIAL SEPTAL DEFECT 3" MONDO_0013567 "Disgenet " 7576 MYH6 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 7576 MYH6 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 7576 MYH6 "MYH-6 related congenital heart defects" MONDO:0800442 "ClinGen " 7576 MYH6 "Familial or idiopathic dilated cardiomyopathy" "Disgenet " 7576 MYH6 "Hypoplastic left heart syndrome" MONDO_0004933 "Disgenet " 7576 MYH6 CMD1A MONDO_0005021 "Disgenet " 7576 MYH6 Cardiomyopathy MONDO_0004994 "Disgenet " 7576 MYH6 "Cardiac Disease" MONDO_0005267 "Disgenet " 7576 MYH6 CMH14 MONDO_0013197 "Disgenet " 7576 MYH6 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 7576 MYH6 "CARDIOMYOPATHY, DILATED, 1EE" MONDO_0013198 "Disgenet " 7576 MYH6 "Sick Sinus Syndrome" MONDO_0001823 "Disgenet " 7576 MYH6 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 7576 MYH6 "Atrial septal defect" MONDO_0006664 "Disgenet " 7576 MYH6 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 7576 MYH6 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 7576 MYH6 "Congestive heart failure" MONDO_0005252 "Disgenet " 7576 MYH6 "Cardiomyopathy, Hypertrophic, Familial" MONDO_0024573 "Disgenet " 7577 MYH7 "Myopathy, Myosin Storage" MONDO_0018889 "Disgenet " 7577 MYH7 "Left Ventricular Non-Compaction Syndrome" MONDO_0018901 "Disgenet " 7577 MYH7 "Ebsteins Anomaly" MONDO_0009144 "Disgenet " 7577 MYH7 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 7577 MYH7 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 7577 MYH7 "congenital heart disease" MONDO:0005453 "ClinGen " 7577 MYH7 "MYH7-related skeletal myopathy" MONDO:0008050 "ClinGen " 7577 MYH7 "arrhythmogenic right ventricular cardiomyopathy" MONDO:0016587 "ClinGen " 7577 MYH7 "CARDIOMYOPATHY, DILATED, 1S" MONDO_0013262 "Disgenet " 7577 MYH7 "Left ventricular noncompaction" MONDO_0018901 "Disgenet " 7577 MYH7 Myopathy MONDO_0003939 "Disgenet " 7577 MYH7 "Hypertrophy, Left Ventricular" "Disgenet " 7577 MYH7 "Cardiomyopathy, Hypertrophic, Familial" MONDO_0024573 "Disgenet " 7577 MYH7 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 7577 MYH7 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 7577 MYH7 "distal muscular dystrophy" MONDO_0018949 "Disgenet " 7577 MYH7 "Myopathy, Hyaline Body, Autosomal Recessive" MONDO_0009708 "Disgenet " 7577 MYH7 CMH1 MONDO_0024573 "Disgenet " 7577 MYH7 "Long QT Syndrome" MONDO_0002442 "Disgenet " 7577 MYH7 CFTD MONDO_0800341 "Disgenet " 7577 MYH7 "Restrictive cardiomyopathy" MONDO_0005201 "Disgenet " 7577 MYH7 Cardiomyopathy MONDO_0004994 "Disgenet " 7577 MYH7 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 7577 MYH7 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 7577 MYH7 MPD1 MONDO_0008050 "Disgenet " 7577 MYH7 "Hypoplastic left heart syndrome" MONDO_0004933 "Disgenet " 7577 MYH7 CMD1A MONDO_0005021 "Disgenet " 7577 MYH7 "Congenital myopathies" MONDO_0013177 "Disgenet " 7577 MYH7 Arrhythmia MONDO_0007263 "Disgenet " 7577 MYH7 "Myopathy, Hyaline Body, Autosomal Dominant" MONDO_0018889 "Disgenet " 7577 MYH7 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 7577 MYH7 "Arrhythmogenic right ventricular dysplasia" MONDO_0016587 "Disgenet " 7579 MYH9 "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss" MONDO:0015912 "ClinGen " 7579 MYH9 "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 7579 MYH9 "High blood pressure" MONDO_0005044 "Disgenet " 7579 MYH9 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 7579 MYH9 Glomerulonephritides MONDO_0002462 "Disgenet " 7579 MYH9 "Cancer, Breast" MONDO_0007254 "Disgenet " 7579 MYH9 "Breast Neoplasms" MONDO_0021100 "Disgenet " 7579 MYH9 Hypoacusis MONDO_0005365 "Disgenet " 7579 MYH9 "Sebastian Syndrome" "Disgenet " 7579 MYH9 "Isolated Deafness" MONDO_0019497 "Disgenet " 7579 MYH9 MHA MONDO_0015912 "Disgenet " 7579 MYH9 Thrombocytopenia MONDO_0002049 "Disgenet " 7579 MYH9 Macrothrombocytopenia "Disgenet " 7579 MYH9 Nephropathy MONDO_0005240 "Disgenet " 7579 MYH9 DFNA17 MONDO_0011350 "Disgenet " 7579 MYH9 "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 7579 MYH9 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 758 ASS1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 758 ASS1 Citrullinemia MONDO_0015991 "Disgenet " 758 ASS1 Melanoma MONDO_0005105 "Disgenet " 758 ASS1 "citrullinemia type I" MONDO:0008988 "ClinGen " 758 ASS1 "CITRULLINEMIA, TYPE II, ADULT-ONSET" MONDO_0011326 "Disgenet " 758 ASS1 CTLN1 MONDO_0008988 "Disgenet " 7583 MYL2 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 7583 MYL2 "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10" MONDO_0012112 "Disgenet " 7583 MYL2 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 7583 MYL2 "Cardiomyopathy, Hypertrophic, Familial" MONDO_0024573 "Disgenet " 7583 MYL2 Cardiomyopathy MONDO_0004994 "Disgenet " 7583 MYL2 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 7583 MYL2 "arrhythmogenic right ventricular cardiomyopathy" MONDO:0016587 "ClinGen " 7583 MYL2 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 7584 MYL3 "arrhythmogenic right ventricular cardiomyopathy" MONDO:0016587 "ClinGen " 7584 MYL3 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 7584 MYL3 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 7584 MYL3 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 7584 MYL3 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 7584 MYL3 Cardiomyopathy MONDO_0004994 "Disgenet " 7584 MYL3 CMH8 MONDO_0012111 "Disgenet " 7585 MYL4 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 7585 MYL4 Cardiomyopathy MONDO_0004994 "Disgenet " 7590 MYLK "Acute Lung Injury" MONDO_0015796 "Disgenet " 7590 MYLK "Respiratory Distress Syndrome, Adult" MONDO_0100130 "Disgenet " 7590 MYLK "Berdon syndrome" MONDO_0100354 "Disgenet " 7590 MYLK "familial thoracic aortic aneurysm and aortic dissection" MONDO:0019625 "ClinGen " 7590 MYLK "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 7590 MYLK "Cerebrovascular accident" MONDO_0005098 "Disgenet " 7590 MYLK "Dissection of aorta" "Disgenet " 7590 MYLK Pneumonia MONDO_0005249 "Disgenet " 7590 MYLK "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 7590 MYLK Asthma MONDO_0004979 "Disgenet " 7590 MYLK "AORTIC ANEURYSM, FAMILIAL THORACIC 1" MONDO_0024559 "Disgenet " 7590 MYLK "Aortic Aneurysm, Thoracic" MONDO_0005396 "Disgenet " 7594 MYO15A DFNB3 MONDO_0010860 "Disgenet " 7594 MYO15A "Non-syndromic genetic deafness" MONDO_0019497 "Disgenet " 7594 MYO15A "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 7594 MYO15A Hypoacusis MONDO_0005365 "Disgenet " 7594 MYO15A "DEAFNESS, AUTOSOMAL RECESSIVE" MONDO_0019588 "Disgenet " 7594 MYO15A "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 7597 MYO1C "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 7599 MYO1E "FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6" MONDO_0013589 "Disgenet " 7599 MYO1E "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 7599 MYO1E "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 76 ABL1 "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 76 ABL1 ALL MONDO_0004967 "Disgenet " 76 ABL1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 76 ABL1 "Failure to Thrive" "Disgenet " 76 ABL1 "malignant squamous cell neoplasm of oral cavity (diagnosis)" MONDO_0004958 "Disgenet " 76 ABL1 "adenocarcinoma of esophagus (diagnosis)" MONDO_0005028 "Disgenet " 76 ABL1 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 76 ABL1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 76 ABL1 "Postnatal failure to thrive" "Disgenet " 76 ABL1 "Liver Neoplasm" MONDO_0002691 "Disgenet " 76 ABL1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 76 ABL1 Melanoma MONDO_0005105 "Disgenet " 76 ABL1 carcinogenesis "Disgenet " 76 ABL1 "Precursor T-cell lymphoblastic leukaemia" MONDO_0020512 "Disgenet " 7600 MYO1F "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 7601 MYO3A "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 7601 MYO3A "DEAFNESS, AUTOSOMAL RECESSIVE 30" MONDO_0011774 "Disgenet " 7601 MYO3A Hypoacusis MONDO_0005365 "Disgenet " 7601 MYO3A "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 7602 MYO5A "Melanolysosomal neurocutaneous syndrome" MONDO_0009742 "Disgenet " 7602 MYO5A GS1 MONDO_0018306 "Disgenet " 7602 MYO5A "Griscelli syndrome type 1" MONDO:0008962 "ClinGen " 7603 MYO5B "Microvillous inclusion disease" MONDO_0009635 "Disgenet " 7603 MYO5B "Byler's syndrome" MONDO_0015762 "Disgenet " 7603 MYO5B PFIC1 MONDO_0015762 "Disgenet " 7603 MYO5B "Disease, Intestinal" MONDO_0005020 "Disgenet " 7605 MYO6 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 7605 MYO6 "Isolated Deafness" MONDO_0019497 "Disgenet " 7605 MYO6 Hypoacusis MONDO_0005365 "Disgenet " 7605 MYO6 "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 7605 MYO6 DFNB37 MONDO_0011912 "Disgenet " 7605 MYO6 DFNA22 MONDO_0011660 "Disgenet " 7606 MYO7A "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 7606 MYO7A DFNB2 MONDO_0010807 "Disgenet " 7606 MYO7A "Disease, Meniere" MONDO_0007972 "Disgenet " 7606 MYO7A "Usher Syndrome Type 2" MONDO_0016484 "Disgenet " 7606 MYO7A "USH1A, FORMERLY" MONDO_0700087 "Disgenet " 7606 MYO7A "Usher syndrome" MONDO_0019501 "Disgenet " 7606 MYO7A "Sensorineural hearing loss, bilateral" MONDO_0013269 "Disgenet " 7606 MYO7A "Retinal dystrophy" MONDO_0019118 "Disgenet " 7606 MYO7A Melanoma MONDO_0005105 "Disgenet " 7606 MYO7A "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 7606 MYO7A Hypoacusis MONDO_0005365 "Disgenet " 7606 MYO7A "Isolated Deafness" MONDO_0019497 "Disgenet " 7606 MYO7A "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 7606 MYO7A "Usher syndrome type 1" MONDO:0010168 "ClinGen " 7606 MYO7A "Usher syndrome, type 1B" MONDO_0700087 "Disgenet " 7606 MYO7A DFNA11 MONDO_0011032 "Disgenet " 7608 MYO9A "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 7608 MYO9A "CONGEN MYASTHENIA GRAVIS" MONDO_0018940 "Disgenet " 7608 MYO9A "arthrogryposis syndrome" MONDO:0015225 "ClinGen " 7609 MYO9B Schizophrenias MONDO_0005090 "Disgenet " 7609 MYO9B "Celiac Disease" MONDO_0005130 "Disgenet " 7610 MYOC "Normal tension glaucoma" MONDO_0006837 "Disgenet " 7610 MYOC "open-angle glaucoma" MONDO:0005338 "ClinGen " 7610 MYOC GLC1A MONDO_0020367 "Disgenet " 7610 MYOC "Hypertensions, Ocular" MONDO_0006875 "Disgenet " 7610 MYOC Glaucomas MONDO_0005041 "Disgenet " 7610 MYOC "Pigmentary glaucoma" MONDO_0005338 "Disgenet " 7610 MYOC "Primary open-angle glaucoma" MONDO_0100553 "Disgenet " 7610 MYOC "Juvenile glaucoma" MONDO_0020367 "Disgenet " 7610 MYOC Hydrophthalmos MONDO_0009277 "Disgenet " 7611 MYOD1 "Embryonal rhabdomyosarcoma" MONDO_0009993 "Disgenet " 7611 MYOD1 "Cancer, Breast" MONDO_0007254 "Disgenet " 7611 MYOD1 FADS MONDO_0008824 "Disgenet " 7613 MYOM1 "hypertrophic cardiomyopathy" MONDO:0005045 "ClinGen " 7618 PPP1R12A "genitourinary and/or brain malformation syndrome" MONDO:0032934 "ClinGen " 7622 MYT1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 7627 NAB2 Hemangiopericytoma MONDO_0005094 "Disgenet " 7627 NAB2 "Localized Fibrous Mesothelioma" MONDO_0016238 "Disgenet " 7631 NAGA "SCHINDLER DISEASE, TYPE I" MONDO_0012221 "Disgenet " 7631 NAGA "KANZAKI DISEASE" MONDO_0012222 "Disgenet " 7631 NAGA "Dystrophy, Neuroaxonal" MONDO_0002283 "Disgenet " 7631 NAGA "alpha-N-acetylgalactosaminidase deficiency" MONDO:0017779 "ClinGen " 7632 NAGLU "mucopolysaccharidosis type 3B" MONDO:0009656 "ClinGen " 7632 NAGLU "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V" MONDO_0014665 "Disgenet " 7632 NAGLU "Mucopolysaccharidosis III" MONDO_0018937 "Disgenet " 7632 NAGLU MPS3B MONDO_0009656 "Disgenet " 7634 NAIP "SPINAL MUSCULAR ATROPHY, TYPE III" MONDO_0009672 "Disgenet " 7634 NAIP "SPINAL MUSCULAR ATROPHY, TYPE II" MONDO_0009673 "Disgenet " 7634 NAIP "Werdnig Hoffmann Disease" MONDO_0009669 "Disgenet " 7642 NAPG "Bipolar Disorders" MONDO_0004985 "Disgenet " 7643 NARS1 "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES" MONDO_0030837 "Disgenet " 7643 NARS1 "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES" MONDO_0100348 "Disgenet " 7643 NARS1 "neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities" MONDO:0100348 "ClinGen " 7643 NARS1 "neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities" MONDO:0030837 "ClinGen " 7643 NARS1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 7645 NAT1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 7645 NAT1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7645 NAT1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 7645 NAT1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 7645 NAT1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 7648 NBEA "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 7648 NBEA "Autistic behaviors" "Disgenet " 7648 NBEA "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 7648 NBEA Epilepsies MONDO_0005027 "Disgenet " 7648 NBEA "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 7648 NBEA "Childhood autism" MONDO_0005260 "Disgenet " 7652 NBN "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 7652 NBN "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7652 NBN AT-V1 MONDO_0009623 "Disgenet " 7652 NBN "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 7652 NBN "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 7652 NBN "L1 Lymphocytic Leukemia" MONDO_0000870 "Disgenet " 7652 NBN "Pancreatic carcinoma" MONDO_0005192 "Disgenet " 7652 NBN "Liver cell carcinoma" MONDO_0007256 "Disgenet " 7652 NBN "Hereditary Breast and Ovarian Cancer Syndrome" MONDO_0003582 "Disgenet " 7652 NBN "Hereditary prostate cancer" MONDO_0023122 "Disgenet " 7652 NBN "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 7652 NBN "ovarian epithelial cancer" MONDO_0005140 "Disgenet " 7652 NBN "Nijmegen breakage syndrome" MONDO:0009623 "ClinGen " 7652 NBN "hereditary breast carcinoma" MONDO:0016419 "ClinGen " 7652 NBN "Cancer, Ovarian" MONDO_0008170 "Disgenet " 7652 NBN ALL MONDO_0004967 "Disgenet " 7652 NBN "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 7652 NBN "Cancer, Breast" MONDO_0007254 "Disgenet " 7652 NBN "Aplastic anemia" MONDO_0015909 "Disgenet " 7652 NBN "familial cancer of breast" MONDO_0016419 "Disgenet " 7652 NBN "Menopause, Premature" MONDO_0001119 "Disgenet " 7656 NCAM1 Alcoholism MONDO_0002046 "Disgenet " 7656 NCAM1 "Abuse, Marihuana" MONDO_0005689 "Disgenet " 7656 NCAM1 "Bipolar Depression" MONDO_0004985 "Disgenet " 7656 NCAM1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 7656 NCAM1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 7656 NCAM1 "Depressive neurosis" MONDO_0002050 "Disgenet " 7656 NCAM1 Depression MONDO_0002050 "Disgenet " 7656 NCAM1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 7656 NCAM1 "Affective Disorders" MONDO_0005371 "Disgenet " 7656 NCAM1 Schizophrenias MONDO_0005090 "Disgenet " 7656 NCAM1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 7660 NCF1 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 7660 NCF1 "Chronic Granulomatous Diseases" MONDO_0018305 "Disgenet " 7660 NCF1 "Granulomatous Disease, Chronic, due to NCF1 Deficiency" MONDO_0009309 "Disgenet " 7660 NCF1 "High blood pressure" MONDO_0005044 "Disgenet " 7660 NCF1 "Syndrome, Williams" MONDO_0008678 "Disgenet " 7660 NCF1 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 7660 NCF1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 7660 NCF1 "CHRONIC GRANULOMATOUS DISEASE, ATYPICAL" MONDO_0010600 "Disgenet " 7661 NCF2 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 7661 NCF2 "Chronic Granulomatous Diseases" MONDO_0018305 "Disgenet " 7661 NCF2 "Neutrophil Cytosol Factor 2, Deficiency of" MONDO_0009310 "Disgenet " 7662 NCF4 "Colitis, granulomatous" MONDO_0005011 "Disgenet " 7662 NCF4 "CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE III" MONDO_0013507 "Disgenet " 7662 NCF4 "Chronic Granulomatous Diseases" MONDO_0018305 "Disgenet " 7662 NCF4 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 7665 NCK2 "Alzheimer Disease" MONDO_0012630 "Disgenet " 7666 NCKAP1 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 7667 NCL "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 7668 NCOA1 Endometrioses MONDO_0005133 "Disgenet " 7668 NCOA1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 7668 NCOA1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7669 NCOA2 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 7669 NCOA2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 7669 NCOA2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7670 NCOA3 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 7670 NCOA3 Obesity MONDO_0019182 "Disgenet " 7670 NCOA3 "Breast Neoplasms" MONDO_0021100 "Disgenet " 7670 NCOA3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7671 NCOA4 "Neoplasm, Thyroid" MONDO_0015074 "Disgenet " 7672 NCOR1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 7672 NCOR1 "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 7672 NCOR1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 7672 NCOR1 Glioblastoma MONDO_0018177 "Disgenet " 7672 NCOR1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 7672 NCOR1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 7672 NCOR1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7675 NDN "Prader Willi Syndrome" MONDO_0008300 "Disgenet " 7677 NSMCE3 "lung disease, immunodeficiency, and chromosome breakage syndrome;" MONDO:0014984 "ClinGen " 7678 NDP "Norrie disease" MONDO:0010691 "ClinGen " 7678 NDP EVR2 MONDO_0010588 "Disgenet " 7678 NDP "Fibroplasias, Retrolental" MONDO_0006952 "Disgenet " 7678 NDP "Familial exudative vitreoretinopathy" MONDO_0019516 "Disgenet " 7678 NDP "Norrie's disease" MONDO_0010691 "Disgenet " 7678 NDP "COATS DISEASE" MONDO_0010269 "Disgenet " 7678 NDP "Persistent hyperplasia of primary vitreous" MONDO_0019631 "Disgenet " 7678 NDP "RETINA DETACHMENT" MONDO_0008375 "Disgenet " 7679 NDRG1 HMSN MONDO_0012250 "Disgenet " 7679 NDRG1 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 7679 NDRG1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 7679 NDRG1 "Kidney Neoplasm" MONDO_0002367 "Disgenet " 7679 NDRG1 Melanoma MONDO_0005105 "Disgenet " 7679 NDRG1 Glioblastoma MONDO_0018177 "Disgenet " 7679 NDRG1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 7679 NDRG1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 7679 NDRG1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7679 NDRG1 "Charcot-Marie-Tooth disease Type 4" MONDO_0018995 "Disgenet " 7679 NDRG1 CMT4D MONDO_0011085 "Disgenet " 7680 NDST1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 7680 NDST1 MRT46 MONDO_0014499 "Disgenet " 7683 NDUFA1 "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12" MONDO_0026720 "Disgenet " 7683 NDUFA1 "Leigh syndrome" MONDO:0009723 "ClinGen " 7683 NDUFA1 "MITOCHONDRIAL COMPLEX I DEFICIENCY" MONDO_0100133 "Disgenet " 7683 NDUFA1 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 7684 NDUFA10 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 7684 NDUFA10 MC1DN22 MONDO_0032626 "Disgenet " 7684 NDUFA10 "mitochondrial disease" MONDO:0044970 "ClinGen " 7684 NDUFA10 "Leigh syndrome" MONDO:0009723 "ClinGen " 7685 NDUFA2 "Leigh syndrome" MONDO:0009723 "ClinGen " 7685 NDUFA2 "mitochondrial disease" MONDO:0044970 "ClinGen " 7685 NDUFA2 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 7687 NDUFA4 "Leigh syndrome" MONDO:0009723 "ClinGen " 7690 NDUFA6 "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33" MONDO_0032636 "Disgenet " 7692 NDUFA8 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 7692 NDUFA8 "mitochondrial disease" MONDO:0044970 "ClinGen " 7693 NDUFA9 "Leigh syndrome" MONDO:0009723 "ClinGen " 7693 NDUFA9 MC1DN26 MONDO_0032630 "Disgenet " 7696 NDUFB10 "mitochondrial disease" MONDO:0044970 "ClinGen " 7696 NDUFB10 MC1DN35 MONDO_0033560 "Disgenet " 7696 NDUFB10 "MITOCHONDRIAL COMPLEX I DEFICIENCY" MONDO_0100133 "Disgenet " 7698 NDUFB3 MC1DN25 MONDO_0032629 "Disgenet " 7698 NDUFB3 "mitochondrial disease" MONDO:0044970 "ClinGen " 7703 NDUFB8 "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32" MONDO_0032635 "Disgenet " 7703 NDUFB8 "Leigh syndrome" MONDO:0009723 "ClinGen " 7704 NDUFB9 "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24" MONDO_0032628 "Disgenet " 7706 NDUFC2 "Leigh syndrome" MONDO:0009723 "ClinGen " 7706 NDUFC2 "mitochondrial disease" MONDO:0044970 "ClinGen " 7707 NDUFS1 "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5" MONDO_0032610 "Disgenet " 7707 NDUFS1 "Leigh syndrome" MONDO:0009723 "ClinGen " 7707 NDUFS1 "mitochondrial disease" MONDO:0044970 "ClinGen " 7707 NDUFS1 "Early onset schizophrenia" MONDO_0019939 "Disgenet " 7707 NDUFS1 Schizophrenias MONDO_0005090 "Disgenet " 7707 NDUFS1 "MITOCHONDRIAL COMPLEX I DEFICIENCY" MONDO_0100133 "Disgenet " 7707 NDUFS1 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 7708 NDUFS2 Cardiomyopathy MONDO_0004994 "Disgenet " 7708 NDUFS2 "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6" MONDO_0032611 "Disgenet " 7708 NDUFS2 "mitochondrial disease" MONDO:0044970 "ClinGen " 7708 NDUFS2 "Leigh syndrome" MONDO:0009723 "ClinGen " 7708 NDUFS2 "MITOCHONDRIAL COMPLEX I DEFICIENCY" MONDO_0100133 "Disgenet " 7708 NDUFS2 "Leber's optic atrophy" MONDO_0010788 "Disgenet " 7708 NDUFS2 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 7710 NDUFS3 "Leigh syndrome" MONDO:0009723 "ClinGen " 7710 NDUFS3 "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8" MONDO_0032613 "Disgenet " 7710 NDUFS3 "MITOCHONDRIAL COMPLEX I DEFICIENCY" MONDO_0100133 "Disgenet " 7710 NDUFS3 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 7711 NDUFS4 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 7711 NDUFS4 Encephalopathy MONDO_0005560 "Disgenet " 7711 NDUFS4 "Leigh syndrome" MONDO:0009723 "ClinGen " 7711 NDUFS4 "mitochondrial disease" MONDO:0044970 "ClinGen " 7711 NDUFS4 "MITOCHONDRIAL COMPLEX I DEFICIENCY" MONDO_0100133 "Disgenet " 7711 NDUFS4 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 7713 NDUFS6 "MITOCHONDRIAL COMPLEX I DEFICIENCY" MONDO_0100133 "Disgenet " 7713 NDUFS6 "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9" MONDO_0032615 "Disgenet " 7713 NDUFS6 "mitochondrial disease" MONDO:0044970 "ClinGen " 7714 NDUFS7 MC1DN3 MONDO_0032608 "Disgenet " 7714 NDUFS7 "Leigh syndrome" MONDO:0009723 "ClinGen " 7714 NDUFS7 "mitochondrial disease" MONDO:0044970 "ClinGen " 7714 NDUFS7 "MITOCHONDRIAL COMPLEX I DEFICIENCY" MONDO_0100133 "Disgenet " 7714 NDUFS7 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 7715 NDUFS8 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 7715 NDUFS8 "MITOCHONDRIAL COMPLEX I DEFICIENCY" MONDO_0100133 "Disgenet " 7715 NDUFS8 "mitochondrial disease" MONDO:0044970 "ClinGen " 7715 NDUFS8 "Leigh syndrome" MONDO:0009723 "ClinGen " 7715 NDUFS8 "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2" MONDO_0032606 "Disgenet " 7716 NDUFV1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 7716 NDUFV1 Schizophrenias MONDO_0005090 "Disgenet " 7716 NDUFV1 "MITOCHONDRIAL COMPLEX I DEFICIENCY" MONDO_0100133 "Disgenet " 7716 NDUFV1 MC1DN4 MONDO_0032609 "Disgenet " 7716 NDUFV1 "Leigh syndrome" MONDO:0009723 "ClinGen " 7716 NDUFV1 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 7717 NDUFV2 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 7717 NDUFV2 Schizophrenias MONDO_0005090 "Disgenet " 7717 NDUFV2 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 7717 NDUFV2 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 7717 NDUFV2 Cardiomyopathy MONDO_0004994 "Disgenet " 7717 NDUFV2 "Parkinson Disease" MONDO_0014796 "Disgenet " 7717 NDUFV2 "MITOCHONDRIAL COMPLEX I DEFICIENCY" MONDO_0100133 "Disgenet " 7717 NDUFV2 "Leigh syndrome" MONDO:0009723 "ClinGen " 7717 NDUFV2 "mitochondrial disease" MONDO:0044970 "ClinGen " 7717 NDUFV2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 7727 NEDD4 Keloid MONDO_0005348 "Disgenet " 7727 NEDD4 "Cancer, Breast" MONDO_0007254 "Disgenet " 7728 NEDD4L "High blood pressure" MONDO_0005044 "Disgenet " 7728 NEDD4L "Periventricular neuronal heterotopia" MONDO_0020341 "Disgenet " 7728 NEDD4L "PERIVENTRICULAR NODULAR HETEROTOPIA 7" MONDO_0014966 "Disgenet " 7728 NEDD4L Syndactyly MONDO_0000151 "Disgenet " 7728 NEDD4L "Cleft Palate" MONDO_0016064 "Disgenet " 7728 NEDD4L "periventricular nodular heterotopia 7" MONDO:0014966 "ClinGen " 7739 NEFL "Charcot-Marie-Tooth disease type 2" MONDO:0018993 "ClinGen " 7739 NEFL "Charcot-Marie-Tooth disease" MONDO:0015626 "ClinGen " 7739 NEFL "CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G" MONDO_0036484 "Disgenet " 7739 NEFL "Bipolar Disorders" MONDO_0004985 "Disgenet " 7739 NEFL "Charcot Marie Disease" MONDO_0011687 "Disgenet " 7739 NEFL "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E" MONDO_0011894 "Disgenet " 7739 NEFL Schizophrenias MONDO_0005090 "Disgenet " 7739 NEFL "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 7739 NEFL "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 7739 NEFL HMSN MONDO_0012250 "Disgenet " 7739 NEFL "Depressions, Unipolar" MONDO_0002050 "Disgenet " 7739 NEFL "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F" MONDO_0011902 "Disgenet " 7739 NEFL "Peripheral neuropathy" MONDO_0005244 "Disgenet " 7744 NEK1 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 7744 NEK1 "Syndrome, Mohr" MONDO_0009642 "Disgenet " 7744 NEK1 "Short Rib Polydactyly Syndrome" MONDO_0015461 "Disgenet " 7744 NEK1 "Short rib syndrome" MONDO_0014287 "Disgenet " 7744 NEK1 "Short Rib Polydactyly Syndrome, Majewski Type" MONDO_0009894 "Disgenet " 7744 NEK1 "amyotrophic lateral sclerosis, susceptibility to, 24" MONDO:0054750 "ClinGen " 775 SERPINC1 "Deep Vein Thrombosis" "Disgenet " 775 SERPINC1 "Acute Coronary Syndrome" MONDO_0005542 "Disgenet " 775 SERPINC1 "Venous Thromboembolism" MONDO_0005399 "Disgenet " 775 SERPINC1 "Antithrombin III deficiency" MONDO_0013144 "Disgenet " 775 SERPINC1 "Hereditary antithrombin III deficiency" "Disgenet " 775 SERPINC1 "Angina, Unstable" MONDO_0006805 "Disgenet " 775 SERPINC1 "Respiratory Distress Syndrome, Adult" MONDO_0100130 "Disgenet " 775 SERPINC1 "Cerebral Thromboses" MONDO_0002907 "Disgenet " 775 SERPINC1 Thrombocytopenia MONDO_0002049 "Disgenet " 775 SERPINC1 "Brain Injuries" MONDO_0043510 "Disgenet " 775 SERPINC1 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 775 SERPINC1 "Coagulations, Disseminated Intravascular" MONDO_0001243 "Disgenet " 775 SERPINC1 "Blood Coagulation Disorder" MONDO_0001531 "Disgenet " 775 SERPINC1 "hereditary antithrombin deficiency" MONDO:0013144 "ClinGen " 7756 NES Nephroses MONDO_0002331 "Disgenet " 7758 NEU1 sialidosis MONDO:0017734 "ClinGen " 7758 NEU1 "NEURAMINIDASE DEFICIENCY" MONDO_0009738 "Disgenet " 7758 NEU1 Lipomucopolysaccharidoses MONDO_0019346 "Disgenet " 7758 NEU1 Mucolipidoses MONDO_0009738 "Disgenet " 7758 NEU1 "MYOCLONUS--CHERRY RED SPOT SYNDROME" MONDO_0009738 "Disgenet " 7761 NEURL1 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 7761 NEURL1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 7762 NEUROD1 "Glucose Intolerance" MONDO_0001076 "Disgenet " 7762 NEUROD1 Hyperglycemia MONDO_0002909 "Disgenet " 7762 NEUROD1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 7762 NEUROD1 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 7762 NEUROD1 MODY6 MONDO_0011668 "Disgenet " 7762 NEUROD1 "monogenic diabetes" MONDO:0015967 "ClinGen " 7762 NEUROD1 "monogenic diabetes" MONDO:0015967 "ClinGen " 7762 NEUROD1 "Monogenic diabetes" MONDO_0015967 "Disgenet " 7762 NEUROD1 "Maturity onset diabetes mellitus in young" MONDO_0018911 "Disgenet " 7763 NEUROD2 EIEE72 MONDO_0032710 "Disgenet " 7765 NF1 "NEUROFIBROMATOSIS, FAMILIAL SPINAL" MONDO_0008078 "Disgenet " 7765 NF1 Neurofibroma MONDO_0016755 "Disgenet " 7765 NF1 Pheochromocytoma MONDO_0008233 "Disgenet " 7765 NF1 Astrocytoma MONDO_0019781 "Disgenet " 7765 NF1 "NEUROFIBROMATOSIS-NOONAN SYNDROME" MONDO_0011035 "Disgenet " 7765 NF1 "Tumor, Nerve Sheath" MONDO_0002547 "Disgenet " 7765 NF1 "WATSON SYNDROME" MONDO_0008672 "Disgenet " 7765 NF1 "Brain Neoplasms" MONDO_0021211 "Disgenet " 7765 NF1 "Childhood autism" MONDO_0005260 "Disgenet " 7765 NF1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 7765 NF1 Glioblastoma MONDO_0018177 "Disgenet " 7765 NF1 "Cancer, Breast" MONDO_0007254 "Disgenet " 7765 NF1 Melanoma MONDO_0005105 "Disgenet " 7765 NF1 "Optic glioma" MONDO_0003235 "Disgenet " 7765 NF1 "Neurofibromatosis 1" MONDO_0018975 "Disgenet " 7765 NF1 Neurofibromatosis MONDO_0021061 "Disgenet " 7765 NF1 JMML MONDO_0011908 "Disgenet " 7765 NF1 "Plexiform neurofibroma" MONDO_0003304 "Disgenet " 7765 NF1 Gliomas MONDO_0021042 "Disgenet " 7765 NF1 "Pilocytic astrocytoma" MONDO_0019781 "Disgenet " 7765 NF1 CRC MONDO_0005335 "Disgenet " 7765 NF1 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 7765 NF1 "Embryonal rhabdomyosarcoma" MONDO_0009993 "Disgenet " 7765 NF1 "Learning disability" MONDO_0004681 "Disgenet " 7765 NF1 Neurilemmoma MONDO_0002546 "Disgenet " 7765 NF1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 7765 NF1 "BEHAVIOR HYPERACTIVE" "Disgenet " 7765 NF1 "Spinal neurofibromas" "Disgenet " 7765 NF1 "CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB" MONDO_0013357 "Disgenet " 7765 NF1 "Glioma, malignant" MONDO_0100342 "Disgenet " 7765 NF1 "Cancer Syndrome, Hereditary" MONDO_0015356 "Disgenet " 7765 NF1 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 7765 NF1 RASopathy MONDO_0021060 "Disgenet " 7765 NF1 "CAFE-AU-LAIT SPOTS, MULTIPLE" MONDO_0007245 "Disgenet " 7765 NF1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 7765 NF1 Rhabdomyosarcoma MONDO_0005212 "Disgenet " 7765 NF1 "Familial Malignant Neoplasm" "Disgenet " 7765 NF1 "familial ovarian cancer" MONDO:0016248 "ClinGen " 7765 NF1 "neurofibromatosis type 1" MONDO:0018975 "ClinGen " 777 ZFHX3 "Cerebrovascular accident" MONDO_0005098 "Disgenet " 777 ZFHX3 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 777 ZFHX3 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 777 ZFHX3 SCA4 MONDO_0010847 "Disgenet " 777 ZFHX3 Obesity MONDO_0019182 "Disgenet " 777 ZFHX3 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 777 ZFHX3 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 777 ZFHX3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7775 NFATC1 "congenital heart disease" MONDO:0005453 "ClinGen " 7775 NFATC1 CRC MONDO_0005335 "Disgenet " 7775 NFATC1 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 7775 NFATC1 "congenital heart disorder" MONDO_0005453 "Disgenet " 7775 NFATC1 "Ventricular septal defect" MONDO_0002070 "Disgenet " 7776 NFATC2 "congenital heart disease" MONDO:0005453 "ClinGen " 7776 NFATC2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 7778 NFATC4 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 7780 NFE2 thrombocytopenia MONDO:0002049 "ClinGen " 7782 NFE2L2 "immunodeficiency, developmental delay, and hypohomocysteinemia" MONDO:0060591 "ClinGen " 7782 NFE2L2 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 7782 NFE2L2 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 7782 NFE2L2 "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 7782 NFE2L2 carcinogenesis "Disgenet " 7782 NFE2L2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 7782 NFE2L2 "Liver Neoplasm" MONDO_0002691 "Disgenet " 7782 NFE2L2 "Cancer, Lung" MONDO_0008903 "Disgenet " 7782 NFE2L2 neurotoxicity MONDO_0005527 "Disgenet " 7782 NFE2L2 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 7782 NFE2L2 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 7782 NFE2L2 "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 7782 NFE2L2 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 7782 NFE2L2 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 7782 NFE2L2 "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 7782 NFE2L2 Hyperglycemia MONDO_0002909 "Disgenet " 7782 NFE2L2 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 7782 NFE2L2 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 7782 NFE2L2 Vitiligo MONDO_0008661 "Disgenet " 7782 NFE2L2 "Cancer, Squamous Cell" MONDO_0002532 "Disgenet " 7782 NFE2L2 "Bile Duct Obstructions" MONDO_0001751 "Disgenet " 7782 NFE2L2 "Glucose Intolerance" MONDO_0001076 "Disgenet " 7782 NFE2L2 "Primary ovarian failure" MONDO_0005387 "Disgenet " 7782 NFE2L2 "Anemia, Sickle Cell" MONDO_0011382 "Disgenet " 7782 NFE2L2 "Acute kidney injury" MONDO_0002492 "Disgenet " 7782 NFE2L2 "Alzheimer Disease" MONDO_0012630 "Disgenet " 7782 NFE2L2 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 7782 NFE2L2 Nephropathy MONDO_0005240 "Disgenet " 7782 NFE2L2 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 7782 NFE2L2 "Fatty Liver" MONDO_0004790 "Disgenet " 7782 NFE2L2 "Acute Lung Injury" MONDO_0015796 "Disgenet " 7782 NFE2L2 "Lung Neoplasm" MONDO_0002732 "Disgenet " 7782 NFE2L2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7782 NFE2L2 "Congestive heart failure" MONDO_0005252 "Disgenet " 7782 NFE2L2 "Heart failure" MONDO_0005252 "Disgenet " 7782 NFE2L2 "High blood pressure" MONDO_0005044 "Disgenet " 7782 NFE2L2 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 7782 NFE2L2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 7784 NFIA "brain malformations with or without urinary tract defects" MONDO:0100478 "ClinGen " 7784 NFIA "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 7784 NFIA "CHROMOSOME 1p32-p31 DELETION SYNDROME" "Disgenet " 7785 NFIB "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 7785 NFIB "syndromic complex neurodevelopmental disorder" MONDO:0800439 "ClinGen " 7785 NFIB "Adenoid cystic carcinoma" MONDO_0003175 "Disgenet " 7788 NFIX "Marshall-Smith syndrome" MONDO:0011244 "ClinGen " 7788 NFIX "Malan overgrowth syndrome" MONDO:0013885 "ClinGen " 7788 NFIX "Malan overgrowth syndrome" MONDO_0013885 "Disgenet " 7788 NFIX "Marshall-Smith syndrome" MONDO_0011244 "Disgenet " 7788 NFIX "Global developmental delay" "Disgenet " 7788 NFIX "Bipolar Disorders" MONDO_0004985 "Disgenet " 7788 NFIX "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 7794 NFKB1 Melanoma MONDO_0005105 "Disgenet " 7794 NFKB1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 7794 NFKB1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7794 NFKB1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 7794 NFKB1 Adenocarcinoma MONDO_0004970 "Disgenet " 7794 NFKB1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 7794 NFKB1 "primary biliary cirrhosis" MONDO_0005388 "Disgenet " 7794 NFKB1 "immunodeficiency, common variable, 12" MONDO:0014697 "ClinGen " 7794 NFKB1 "NFKB1 DEFICIENCY" MONDO_0014697 "Disgenet " 7794 NFKB1 Alcoholism MONDO_0002046 "Disgenet " 7794 NFKB1 "ISCHEMIC ENCEPH" MONDO_0005299 "Disgenet " 7794 NFKB1 "Affective Disorders" MONDO_0005371 "Disgenet " 7794 NFKB1 "Diseases, Liver" MONDO_0005154 "Disgenet " 7794 NFKB1 "Cancer, Breast" MONDO_0007254 "Disgenet " 7794 NFKB1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 7794 NFKB1 "Common Variable Immunodeficiency" MONDO_0015517 "Disgenet " 7794 NFKB1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 7794 NFKB1 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 7794 NFKB1 "Acute kidney injury" MONDO_0002492 "Disgenet " 7794 NFKB1 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 7795 NFKB2 "immunodeficiency, common variable, 10" MONDO:0014260 "ClinGen " 7795 NFKB2 CVID10 MONDO_0014260 "Disgenet " 7795 NFKB2 "Common Variable Immunodeficiency" MONDO_0015517 "Disgenet " 7795 NFKB2 "Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)" MONDO_0017407 "Disgenet " 7795 NFKB2 "Cutaneous T Cell Lymphoma" MONDO_0015758 "Disgenet " 7797 NFKBIA Psoriases MONDO_0005083 "Disgenet " 7797 NFKBIA "Hepatitis B" MONDO_0005344 "Disgenet " 7797 NFKBIA Melanoma MONDO_0005105 "Disgenet " 7797 NFKBIA "Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant" MONDO_0012806 "Disgenet " 7797 NFKBIA "ectodermal dysplasia and immunodeficiency 2" MONDO:0012806 "ClinGen " 7797 NFKBIA "Liver cell carcinoma" MONDO_0007256 "Disgenet " 7797 NFKBIA "Hodgkin's granuloma" MONDO_0004952 "Disgenet " 7797 NFKBIA Pneumonia MONDO_0005249 "Disgenet " 7797 NFKBIA "carcinoma of nasopharynx (diagnosis)" MONDO_0015459 "Disgenet " 7797 NFKBIA "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 7797 NFKBIA "Ectodermal dysplasia, hypohidrotic, with immune deficiency" MONDO_0010293 "Disgenet " 7797 NFKBIA Glioblastoma MONDO_0018177 "Disgenet " 7797 NFKBIA "Bronchopulmonary Dysplasia" MONDO_0019091 "Disgenet " 7797 NFKBIA "Breast Neoplasms" MONDO_0021100 "Disgenet " 7797 NFKBIA "Multiple Myeloma" MONDO_0009693 "Disgenet " 7797 NFKBIA "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7797 NFKBIA "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 7799 NFKBIE "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 7800 NFKBIL1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 7801 TONSL "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE" MONDO_0010068 "Disgenet " 7801 TONSL "Ovary Syndrome, Polycystic" MONDO_0008487 "Disgenet " 7801 TONSL "Liver cell carcinoma" MONDO_0007256 "Disgenet " 7804 NFYA "Lung Neoplasm" MONDO_0002732 "Disgenet " 7808 NGF "Diseases, Nervous System" MONDO_0005071 "Disgenet " 7808 NGF Amnesia MONDO_0001152 "Disgenet " 7808 NGF "Alcohol withdrawal syndrome" MONDO_0005433 "Disgenet " 7808 NGF "Hereditary Sensory and Autonomic Neuropathies" MONDO_0015364 "Disgenet " 7808 NGF "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 7808 NGF Glomerulonephritides MONDO_0002462 "Disgenet " 7808 NGF "Status Epilepticus" MONDO_0002125 "Disgenet " 7808 NGF Cystitides MONDO_0006032 "Disgenet " 7808 NGF "Cystitides, Interstitial" MONDO_0018301 "Disgenet " 7808 NGF Depression MONDO_0002050 "Disgenet " 7808 NGF "hereditary sensory and autonomic neuropathy" MONDO:0015364 "ClinGen " 7808 NGF "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 7808 NGF Asthma MONDO_0004979 "Disgenet " 7808 NGF "Peripheral neuropathy" MONDO_0005244 "Disgenet " 7808 NGF "Hypertonic bladder" MONDO_0006624 "Disgenet " 7808 NGF "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V" MONDO_0012092 "Disgenet " 7808 NGF "NEUROGENIC INFLAMM" "Disgenet " 7808 NGF "Type IV, HSAN" MONDO_0009746 "Disgenet " 7808 NGF "Parkinson Disease" MONDO_0014796 "Disgenet " 7808 NGF "Depressive neurosis" MONDO_0002050 "Disgenet " 7808 NGF "Degenerative disease of nervous system, unspecified" MONDO_0005559 "Disgenet " 7808 NGF "Pain Insensitivity, Congenital" MONDO_0012092 "Disgenet " 7808 NGF "Heroin Dependence" MONDO_0005367 "Disgenet " 7808 NGF "lung injury" "Disgenet " 7808 NGF "Corneal Ulcer" MONDO_0004577 "Disgenet " 7808 NGF "Hereditary Sensory Neuropathies" MONDO_0015364 "Disgenet " 7808 NGF "Bipolar Disorders" MONDO_0004985 "Disgenet " 7809 NGFR "Depressive neurosis" MONDO_0002050 "Disgenet " 7809 NGFR "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7809 NGFR "Degenerative disease of nervous system, unspecified" MONDO_0005559 "Disgenet " 7809 NGFR Schizophrenias MONDO_0005090 "Disgenet " 7809 NGFR "Alzheimer Disease" MONDO_0012630 "Disgenet " 7809 NGFR Melanoma MONDO_0005105 "Disgenet " 7809 NGFR Depression MONDO_0002050 "Disgenet " 782 ATE1 "congenital heart disease" MONDO:0005453 "ClinGen " 7820 NHS "Nance-Horan syndrome" MONDO:0010545 "ClinGen " 7820 NHS "NANCE-HORAN SYNDROME" MONDO_0010545 "Disgenet " 7820 NHS "Congenital cataract" MONDO_0008925 "Disgenet " 7821 NID1 CRC MONDO_0005335 "Disgenet " 783 ATF1 "Sarcoma, Clear Cell" MONDO_0002926 "Disgenet " 7838 NKX3-1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 784 ATF2 "Cancer, Breast" MONDO_0007254 "Disgenet " 7842 NMB Obesity MONDO_0019182 "Disgenet " 7849 NME1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 7849 NME1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 7849 NME1 Neuroblastoma MONDO_0005072 "Disgenet " 785 ATF3 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 785 ATF3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 785 ATF3 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 785 ATF3 Hypospadia MONDO_0005345 "Disgenet " 785 ATF3 Depression MONDO_0002050 "Disgenet " 785 ATF3 "Depressive neurosis" MONDO_0002050 "Disgenet " 785 ATF3 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 7850 NME2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 7850 NME2 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 7853 NME5 "Primary ciliary dyskinesia -RETIRED-" MONDO_0016575 "Disgenet " 7853 NME5 "ciliary dyskinesia, primary, 48, without situs inversus" MONDO:0031054 "ClinGen " 7856 NQO2 Agranulocytoses MONDO_0015134 "Disgenet " 7856 NQO2 "Cancer, Breast" MONDO_0007254 "Disgenet " 7856 NQO2 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 7856 NQO2 "Parkinson Disease" MONDO_0014796 "Disgenet " 7856 NQO2 Psychosis MONDO_0005485 "Disgenet " 7856 NQO2 "Unspecified nonorganic psychosis" "Disgenet " 7856 NQO2 Schizophrenias MONDO_0005090 "Disgenet " 7856 NQO2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 7859 NMU Obesity MONDO_0019182 "Disgenet " 786 ATF4 "Bipolar Disorders" MONDO_0004985 "Disgenet " 786 ATF4 "CARCINOMA OF PROSTATE" MONDO_0005159 "Disgenet " 786 ATF4 "Depressive neurosis" MONDO_0002050 "Disgenet " 786 ATF4 Depression MONDO_0002050 "Disgenet " 786 ATF4 Schizophrenias MONDO_0005090 "Disgenet " 7860 NNAT Neuroblastoma MONDO_0005072 "Disgenet " 7861 NNMT Schizophrenias MONDO_0005090 "Disgenet " 7861 NNMT "Bipolar Disorders" MONDO_0004985 "Disgenet " 7863 NNT "mitochondrial disease" MONDO:0044970 "ClinGen " 7863 NNT "Familial Glucocorticoid Deficiency" MONDO_0008733 "Disgenet " 7866 NOG SYM1A MONDO_0008511 "Disgenet " 7866 NOG "NOG-related symphalangism spectrum disorder" MONDO:0100521 "ClinGen " 7866 NOG Farsightedness MONDO_0004891 "Disgenet " 7866 NOG "Stapes Ankylosis Syndrome Without Symphalangism" MONDO_0008484 "Disgenet " 7866 NOG "multiple synostoses syndrome" MONDO_0017923 "Disgenet " 7866 NOG "MULTIPLE SYNOSTOSES SYNDROME 1" MONDO_0017923 "Disgenet " 7866 NOG TCC MONDO_0008521 "Disgenet " 7866 NOG "BRACHYDACTYLY, TYPE B2" MONDO_0012658 "Disgenet " 7866 NOG "Proximal symphalangism" MONDO_0008511 "Disgenet " 7869 NOL3 FCM MONDO_0013981 "Disgenet " 7871 NONO MRXS34 MONDO_0010501 "Disgenet " 7871 NONO "Unspecified mental retardation" MONDO_0001071 "Disgenet " 7871 NONO "X-linked syndromic intellectual disability" MONDO:0020119 "ClinGen " 7871 NONO "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 7872 NOS1 "Cystic Fibrosis" MONDO_0009061 "Disgenet " 7872 NOS1 "Mental Disorder" MONDO_0005084 "Disgenet " 7872 NOS1 "Fetal Alcohol Syndrome" MONDO_0016011 "Disgenet " 7872 NOS1 "Diseases, Nervous System" MONDO_0005071 "Disgenet " 7872 NOS1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 7872 NOS1 IHPS1 MONDO_0001560 "Disgenet " 7872 NOS1 "Encephalopathies, Hepatic" MONDO_0001711 "Disgenet " 7872 NOS1 Schizophrenias MONDO_0005090 "Disgenet " 7872 NOS1 Asthma MONDO_0004979 "Disgenet " 7872 NOS1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 7872 NOS1 "Parkinson Disease" MONDO_0014796 "Disgenet " 7872 NOS1 Depression MONDO_0002050 "Disgenet " 7873 NOS2 "Congestive heart failure" MONDO_0005252 "Disgenet " 7873 NOS2 Atherosclerosis MONDO_0005311 "Disgenet " 7873 NOS2 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 7873 NOS2 Depression MONDO_0002050 "Disgenet " 7873 NOS2 COPD MONDO_0005002 "Disgenet " 7873 NOS2 "Cancer, Breast" MONDO_0007254 "Disgenet " 7873 NOS2 "Lung Neoplasm" MONDO_0002732 "Disgenet " 7873 NOS2 "Depressive neurosis" MONDO_0002050 "Disgenet " 7873 NOS2 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 7873 NOS2 Nephropathy MONDO_0005240 "Disgenet " 7873 NOS2 "Marfan Syndrome" MONDO_0007947 "Disgenet " 7873 NOS2 "Hemorrhages, Subarachnoid" MONDO_0005099 "Disgenet " 7873 NOS2 Cholangiocarcinoma MONDO_0019087 "Disgenet " 7873 NOS2 "Cerebrovascular accident" MONDO_0005098 "Disgenet " 7873 NOS2 Asthma MONDO_0004979 "Disgenet " 7873 NOS2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 7873 NOS2 Endotoxemia "Disgenet " 7873 NOS2 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 7873 NOS2 Psoriases MONDO_0005083 "Disgenet " 7873 NOS2 "High blood pressure" MONDO_0005044 "Disgenet " 7873 NOS2 Colitides MONDO_0005534 "Disgenet " 7873 NOS2 "Infection, Plasmodium" MONDO_0005136 "Disgenet " 7873 NOS2 Sepsis MONDO_0005229 "Disgenet " 7873 NOS2 "Bile Duct Obstructions" MONDO_0001751 "Disgenet " 7873 NOS2 "Gastric ulcer" MONDO_0001126 "Disgenet " 7873 NOS2 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 7873 NOS2 "Acute kidney injury" MONDO_0002492 "Disgenet " 7873 NOS2 Retinopathy MONDO_0005283 "Disgenet " 7873 NOS2 Asbestoses MONDO_0016466 "Disgenet " 7873 NOS2 Hyperemia "Disgenet " 7873 NOS2 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 7873 NOS2 Silicoses MONDO_0005960 "Disgenet " 7873 NOS2 "Tuberculosis, Pulmonary" MONDO_0957462 "Disgenet " 7873 NOS2 "Duodenal Ulcer" MONDO_0005412 "Disgenet " 7873 NOS2 "Lewy Body Disease" MONDO_0007488 "Disgenet " 7873 NOS2 "Status Epilepticus" MONDO_0002125 "Disgenet " 7873 NOS2 "Enterocolitis, Necrotizing" MONDO_0004639 "Disgenet " 7873 NOS2 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 7873 NOS2 "Heart failure" MONDO_0005252 "Disgenet " 7873 NOS2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 7876 NOS3 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 7876 NOS3 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 7876 NOS3 "Heart failure" MONDO_0005252 "Disgenet " 7876 NOS3 "Breast Neoplasms" MONDO_0021100 "Disgenet " 7876 NOS3 Asthma MONDO_0004979 "Disgenet " 7876 NOS3 "Cancer, Breast" MONDO_0007254 "Disgenet " 7876 NOS3 "Ischemic stroke" "Disgenet " 7876 NOS3 "Hypertension, Portal" MONDO_0005080 "Disgenet " 7876 NOS3 "Syndrome X, Reaven" MONDO_0011565 "Disgenet " 7876 NOS3 "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 7876 NOS3 Sepsis MONDO_0005229 "Disgenet " 7876 NOS3 Depression MONDO_0002050 "Disgenet " 7876 NOS3 "Depressive neurosis" MONDO_0002050 "Disgenet " 7876 NOS3 "Avascular necrosis of bone" MONDO_0005380 "Disgenet " 7876 NOS3 "Cystic Fibrosis" MONDO_0009061 "Disgenet " 7876 NOS3 "Acute chest syndrome" MONDO_0005632 "Disgenet " 7876 NOS3 ALL MONDO_0004967 "Disgenet " 7876 NOS3 "Angle Closure Glaucoma" MONDO_0001744 "Disgenet " 7876 NOS3 Arterioscleroses MONDO_0002277 "Disgenet " 7876 NOS3 "Hypertension, Renovascular" MONDO_0006947 "Disgenet " 7876 NOS3 Nephritides MONDO_0001166 "Disgenet " 7876 NOS3 Angiitides MONDO_0018882 "Disgenet " 7876 NOS3 "Enterocolitis, Necrotizing" MONDO_0004639 "Disgenet " 7876 NOS3 Hyperinsulinism MONDO_0002177 "Disgenet " 7876 NOS3 Adenocarcinoma MONDO_0004970 "Disgenet " 7876 NOS3 "primary biliary cirrhosis" MONDO_0005388 "Disgenet " 7876 NOS3 "Bipolar Disorders" MONDO_0004985 "Disgenet " 7876 NOS3 "Fibroplasias, Retrolental" MONDO_0006952 "Disgenet " 7876 NOS3 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 7876 NOS3 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 7876 NOS3 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 7876 NOS3 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 7876 NOS3 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 7876 NOS3 "Dysfunction, Erectile" MONDO_0005362 "Disgenet " 7876 NOS3 "Essential hypertension" MONDO_0007781 "Disgenet " 7876 NOS3 "Angiopathies, Diabetic" MONDO_0000960 "Disgenet " 7876 NOS3 "Infertility, Male" MONDO_0005372 "Disgenet " 7876 NOS3 Cardiomyopathy MONDO_0004994 "Disgenet " 7876 NOS3 "Acute kidney injury" MONDO_0002492 "Disgenet " 7876 NOS3 COPD MONDO_0005002 "Disgenet " 7876 NOS3 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 7876 NOS3 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 7876 NOS3 "ischemia limb" MONDO_0000491 "Disgenet " 7876 NOS3 Hyperlipemias MONDO_0021187 "Disgenet " 7876 NOS3 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 7876 NOS3 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 7876 NOS3 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 7876 NOS3 "Cardiovascular Disease" MONDO_0004995 "Disgenet " 7876 NOS3 "High blood pressure" MONDO_0005044 "Disgenet " 7876 NOS3 "Alzheimer Disease" MONDO_0012630 "Disgenet " 7876 NOS3 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 7876 NOS3 "Coronary Disease" MONDO_0005010 "Disgenet " 7876 NOS3 Atherosclerosis MONDO_0005311 "Disgenet " 7876 NOS3 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 7876 NOS3 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7876 NOS3 "Congestive heart failure" MONDO_0005252 "Disgenet " 7876 NOS3 "Artery Vasospasm, Coronary" MONDO_0005356 "Disgenet " 7876 NOS3 Hyperglycemia MONDO_0002909 "Disgenet " 7876 NOS3 "Anemia, Sickle Cell" MONDO_0011382 "Disgenet " 7876 NOS3 "MIGRAINE HEADACHE" MONDO_0005277 "Disgenet " 7876 NOS3 "Primary open-angle glaucoma" MONDO_0100553 "Disgenet " 7876 NOS3 "HYPERTENSION, PREGNANCY-INDUCED" MONDO_0024664 "Disgenet " 7876 NOS3 "Behcet Syndrome" MONDO_0007191 "Disgenet " 7876 NOS3 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 7876 NOS3 "Obstructive sleep apnea syndrome" MONDO_0007147 "Disgenet " 7877 CNOT1 Holoprosencephalies MONDO_0016296 "Disgenet " 7877 CNOT1 "holoprosencephaly 12 with or without pancreatic agenesis" MONDO:0032787 "ClinGen " 7877 CNOT1 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 7877 CNOT1 VIBOS MONDO_0033618 "Disgenet " 7877 CNOT1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 7877 CNOT1 "HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS" MONDO_0032787 "Disgenet " 7879 CNOT3 "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES" MONDO_0032864 "Disgenet " 7879 CNOT3 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 7881 NOTCH1 "Fallot Tetralogy" MONDO_0008542 "Disgenet " 7881 NOTCH1 "Aortic valve calcification" MONDO_0005463 "Disgenet " 7881 NOTCH1 Lymphomas MONDO_0005062 "Disgenet " 7881 NOTCH1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 7881 NOTCH1 "Leukemia, T Cell" MONDO_0004963 "Disgenet " 7881 NOTCH1 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 7881 NOTCH1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 7881 NOTCH1 "Adenoid cystic carcinoma" MONDO_0003175 "Disgenet " 7881 NOTCH1 Glioblastoma MONDO_0018177 "Disgenet " 7881 NOTCH1 "Pulmonary arterial hypertension" MONDO_0015924 "Disgenet " 7881 NOTCH1 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 7881 NOTCH1 "Hypoplastic left heart syndrome" MONDO_0004933 "Disgenet " 7881 NOTCH1 "Neoplasm, Skin" MONDO_0002531 "Disgenet " 7881 NOTCH1 "lymphoid neoplasm" MONDO_0005157 "Disgenet " 7881 NOTCH1 Deformity "Disgenet " 7881 NOTCH1 "Adams-Oliver syndrome 5" MONDO:0014459 "ClinGen " 7881 NOTCH1 "Bicuspid aortic valve" MONDO_0007194 "Disgenet " 7881 NOTCH1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 7881 NOTCH1 "adams oliver syndrome" MONDO_0007034 "Disgenet " 7881 NOTCH1 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 7881 NOTCH1 "human T cell leukemia" MONDO_0019471 "Disgenet " 7881 NOTCH1 "Abnormality of cardiovascular system morphology" "Disgenet " 7881 NOTCH1 Astrocytoma MONDO_0019781 "Disgenet " 7881 NOTCH1 "Aortic Aneurysm, Thoracic" MONDO_0005396 "Disgenet " 7881 NOTCH1 Hemangioma MONDO_0006500 "Disgenet " 7881 NOTCH1 "Early T-Cell Precursor Lymphoblastic Leukemia" MONDO_0100291 "Disgenet " 7881 NOTCH1 "Cancer, Squamous Cell" MONDO_0002532 "Disgenet " 7882 NOTCH2 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 7882 NOTCH2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 7882 NOTCH2 Glioblastoma MONDO_0018177 "Disgenet " 7882 NOTCH2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 7882 NOTCH2 "Acro-Osteolysis Syndrome" MONDO_0007057 "Disgenet " 7882 NOTCH2 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 7882 NOTCH2 "Primary ovarian failure" MONDO_0005387 "Disgenet " 7882 NOTCH2 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 7882 NOTCH2 "Lung Neoplasm" MONDO_0002732 "Disgenet " 7882 NOTCH2 "Alagille Syndrome" MONDO_0007318 "Disgenet " 7882 NOTCH2 "Hajdu Cheney Syndrome" MONDO_0007057 "Disgenet " 7882 NOTCH2 "acroosteolysis dominant type" MONDO:0007057 "ClinGen " 7882 NOTCH2 "Alagille syndrome" MONDO:0007318 "ClinGen " 7882 NOTCH2 "ALAGILLE SYNDROME 2" MONDO_0012439 "Disgenet " 7883 NOTCH3 "MYOFIBROMATOSIS, INFANTILE, 2" MONDO_0016824 "Disgenet " 7883 NOTCH3 "Cognitive Dysfunction" "Disgenet " 7883 NOTCH3 "Migraine with aura" MONDO_0005475 "Disgenet " 7883 NOTCH3 "Lung Neoplasm" MONDO_0002732 "Disgenet " 7883 NOTCH3 "Ischemic stroke" "Disgenet " 7883 NOTCH3 "Cerebrovascular accident" MONDO_0005098 "Disgenet " 7883 NOTCH3 "Pulmonary arterial hypertension" MONDO_0015924 "Disgenet " 7883 NOTCH3 "MIGRAINE HEADACHE" MONDO_0005277 "Disgenet " 7883 NOTCH3 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 7883 NOTCH3 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 7883 NOTCH3 "Breast Neoplasms" MONDO_0021100 "Disgenet " 7883 NOTCH3 "Dementia, Vascular" MONDO_0004648 "Disgenet " 7883 NOTCH3 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 7883 NOTCH3 "CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1" MONDO_0000914 "Disgenet " 7883 NOTCH3 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 7883 NOTCH3 "Attacks, Transient Ischemic" MONDO_0005264 "Disgenet " 7883 NOTCH3 "Infantile myofibromatosis" MONDO_0009227 "Disgenet " 7883 NOTCH3 "Depressive neurosis" MONDO_0002050 "Disgenet " 7883 NOTCH3 "pulmonary arterial hypertension" MONDO:0015924 "ClinGen " 7883 NOTCH3 "LATERAL MENINGOCELE SYNDROME" MONDO_0007537 "Disgenet " 7883 NOTCH3 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 7883 NOTCH3 Glioblastoma MONDO_0018177 "Disgenet " 7883 NOTCH3 "CADASIL Syndrome" MONDO_0007432 "Disgenet " 7884 NOTCH4 Schizophrenias MONDO_0005090 "Disgenet " 7884 NOTCH4 "Bipolar Disorders" MONDO_0004985 "Disgenet " 7884 NOTCH4 "Breast Neoplasms" MONDO_0021100 "Disgenet " 7884 NOTCH4 "Arteriovenous Malformation, Cerebral" MONDO_0007154 "Disgenet " 7884 NOTCH4 "Alopecia Areata" MONDO_0005340 "Disgenet " 7884 NOTCH4 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 7884 NOTCH4 "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 7887 NOVA2 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 7889 NOX1 "Congestive heart failure" MONDO_0005252 "Disgenet " 7889 NOX1 "Heart failure" MONDO_0005252 "Disgenet " 7889 NOX1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 7891 NOX4 "High blood pressure" MONDO_0005044 "Disgenet " 7891 NOX4 "Heart failure" MONDO_0005252 "Disgenet " 7891 NOX4 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 7891 NOX4 "Congestive heart failure" MONDO_0005252 "Disgenet " 7891 NOX4 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 7892 PNP "purine nucleoside phosphorylase deficiency" MONDO:0013171 "ClinGen " 7892 PNP "Purine nucleoside phosphorylase [PNP] deficiency" MONDO_0013171 "Disgenet " 7892 PNP "Combined Immunodeficiencies, Severe" MONDO_0015974 "Disgenet " 7894 NPAS1 Schizophrenias MONDO_0005090 "Disgenet " 7895 NPAS2 "Depressive neurosis" MONDO_0002050 "Disgenet " 7895 NPAS2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 7895 NPAS2 "Affective Disorder, Seasonal" MONDO_0000694 "Disgenet " 7895 NPAS2 Schizophrenias MONDO_0005090 "Disgenet " 7897 NPC1 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 7897 NPC1 Obesity MONDO_0019182 "Disgenet " 7897 NPC1 "Niemann-Pick disease, type C1" MONDO:0009757 "ClinGen " 7897 NPC1 "NIEMANN-PICK DISEASE, TYPE C2" MONDO_0011873 "Disgenet " 7897 NPC1 "Diseases, Liver" MONDO_0005154 "Disgenet " 7897 NPC1 Atherosclerosis MONDO_0005311 "Disgenet " 7897 NPC1 "Niemann Pick Disease" MONDO_0001982 "Disgenet " 7897 NPC1 "Niemann-Pick Disease, Type C" MONDO_0018982 "Disgenet " 7897 NPC1 NPC1 MONDO_0009757 "Disgenet " 79 ABO "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 79 ABO "Cerebrovascular accident" MONDO_0005098 "Disgenet " 79 ABO "Duodenal Ulcer" MONDO_0005412 "Disgenet " 79 ABO "Disease, Graft-Versus-Host" MONDO_0013730 "Disgenet " 79 ABO ALL MONDO_0004967 "Disgenet " 79 ABO "Coronary Disease" MONDO_0005010 "Disgenet " 79 ABO "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 79 ABO Alcoholism MONDO_0002046 "Disgenet " 79 ABO "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 79 ABO "OVARIAN CANCER, EPITHELIAL" MONDO_0018364 "Disgenet " 79 ABO "Affective Disorders" MONDO_0005371 "Disgenet " 79 ABO "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 79 ABO "High blood pressure" MONDO_0005044 "Disgenet " 79 ABO Leukemias MONDO_0005059 "Disgenet " 79 ABO Asthma MONDO_0004979 "Disgenet " 79 ABO "Malaria, Falciparum" MONDO_0005920 "Disgenet " 79 ABO "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 790 ATF5 Gliomas MONDO_0021042 "Disgenet " 790 ATF5 "Glioma, malignant" MONDO_0100342 "Disgenet " 7905 NPHP1 CPD4 MONDO_0018772 "Disgenet " 7905 NPHP1 Nephronophthisis MONDO_0019005 "Disgenet " 7905 NPHP1 "nephronophthisis 1" MONDO:0009728 "ClinGen " 7905 NPHP1 "NEPHRONOPHTHISIS 1" MONDO_0019005 "Disgenet " 7905 NPHP1 "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 7905 NPHP1 Nephropathy MONDO_0005240 "Disgenet " 7905 NPHP1 "Renal dysplasia and retinal aplasia (disorder)" MONDO_0017842 "Disgenet " 7907 NPHP3 nephronophthisis MONDO:0019005 "ClinGen " 7907 NPHP3 "High blood pressure" MONDO_0005044 "Disgenet " 7907 NPHP3 "RENAL-HEPATIC-PANCREATIC DYSPLASIA" MONDO_0017417 "Disgenet " 7907 NPHP3 "Meckel like syndrome" MONDO_0009966 "Disgenet " 7907 NPHP3 "NEPHRONOPHTHISIS 3" MONDO_0011456 "Disgenet " 7907 NPHP3 Nephronophthisis MONDO_0019005 "Disgenet " 7907 NPHP3 "Polycystic kidney" MONDO_0020642 "Disgenet " 791 ATF6 achromatopsia MONDO_0018852 "Disgenet " 791 ATF6 "ATF6-related retinopathy" MONDO:0100447 "ClinGen " 791 ATF6 achromatopsia MONDO:0018852 "ClinGen " 791 ATF6 "ACHROMATOPSIA 7" MONDO_0014677 "Disgenet " 791 ATF6 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 7910 NPM1 "Dyskeratosis Congenita" MONDO_0015780 "Disgenet " 7910 NPM1 "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 7910 NPM1 "Lymphomatoid Papulosis" MONDO_0020326 "Disgenet " 7910 NPM1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 7910 NPM1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 7910 NPM1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 7931 NPM3 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 7939 NPPA "Aortic Valve Insufficiency" MONDO_0005648 "Disgenet " 7939 NPPA "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 7939 NPPA "ATRIAL STANDSTILL 2" MONDO_0014329 "Disgenet " 7939 NPPA "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 7939 NPPA "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 7939 NPPA "High blood pressure" MONDO_0005044 "Disgenet " 7939 NPPA "Heart failure" MONDO_0005252 "Disgenet " 7939 NPPA "Congestive heart failure" MONDO_0005252 "Disgenet " 7939 NPPA "Hypertrophy, Left Ventricular" "Disgenet " 7939 NPPA "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 7939 NPPA "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7939 NPPA "Lung Neoplasm" MONDO_0002732 "Disgenet " 7939 NPPA "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 7939 NPPA "Coronary Disease" MONDO_0005010 "Disgenet " 7939 NPPA "Hypertension, Renal" MONDO_0001105 "Disgenet " 7939 NPPA "Acute kidney injury" MONDO_0002492 "Disgenet " 7939 NPPA "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 7939 NPPA "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 794 ATIC "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 794 ATIC "AICA Ribosuria due to ATIC Deficiency" MONDO_0012099 "Disgenet " 7940 NPPB "Atrial Fibrillation" MONDO_0004981 "Disgenet " 7940 NPPB "Heart Failure, Systolic" MONDO_0006993 "Disgenet " 7940 NPPB "Cardiovascular Disease" MONDO_0004995 "Disgenet " 7940 NPPB Cardiomyopathy MONDO_0004994 "Disgenet " 7940 NPPB "Anemia, Sickle Cell" MONDO_0011382 "Disgenet " 7940 NPPB "Aortic Valve Insufficiency" MONDO_0005648 "Disgenet " 7940 NPPB "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 7940 NPPB "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 7940 NPPB "Coronary Disease" MONDO_0005010 "Disgenet " 7940 NPPB "cardiac toxicity" "Disgenet " 7940 NPPB "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 7940 NPPB Atherosclerosis MONDO_0005311 "Disgenet " 7940 NPPB "Brain Injuries" MONDO_0043510 "Disgenet " 7940 NPPB "Congestive heart failure" MONDO_0005252 "Disgenet " 7940 NPPB "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 7940 NPPB Obesity MONDO_0019182 "Disgenet " 7940 NPPB "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 7940 NPPB "Cardiac Disease" MONDO_0005267 "Disgenet " 7940 NPPB "High blood pressure" MONDO_0005044 "Disgenet " 7940 NPPB "Heart failure" MONDO_0005252 "Disgenet " 7941 NPPC Depression MONDO_0002050 "Disgenet " 7941 NPPC "High blood pressure" MONDO_0005044 "Disgenet " 7943 NPR1 "Congestive heart failure" MONDO_0005252 "Disgenet " 7943 NPR1 "High blood pressure" MONDO_0005044 "Disgenet " 7943 NPR1 "Heart failure" MONDO_0005252 "Disgenet " 7944 NPR2 AMDM MONDO_0019696 "Disgenet " 7944 NPR2 "EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE" MONDO_0014401 "Disgenet " 7945 NPR3 "High blood pressure" MONDO_0005044 "Disgenet " 795 ATM "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 795 ATM "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 795 ATM "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 795 ATM "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 795 ATM "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 795 ATM "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 795 ATM "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 795 ATM "Centrocytic Small-Cell Lymphoma" MONDO_0018876 "Disgenet " 795 ATM "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 795 ATM "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 795 ATM "Breast Neoplasms" MONDO_0021100 "Disgenet " 795 ATM "Cancer, Breast" MONDO_0007254 "Disgenet " 795 ATM "Ataxia Telangiectasia" MONDO_0008840 "Disgenet " 795 ATM "Adrenal cortical carcinoma" MONDO_0006639 "Disgenet " 795 ATM "Osler Vaquez Disease" MONDO_0009891 "Disgenet " 795 ATM "bilateral breast cancer" MONDO_0003982 "Disgenet " 795 ATM "Glioma, malignant" MONDO_0100342 "Disgenet " 795 ATM "Malignant neoplasm of thyroid gland" MONDO_0002108 "Disgenet " 795 ATM "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 795 ATM Schizophrenias MONDO_0005090 "Disgenet " 795 ATM "Deficiency Syndrome, Immunological" MONDO_0021094 "Disgenet " 795 ATM "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 795 ATM "B Cell Lymphoma" MONDO_0015759 "Disgenet " 795 ATM "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 795 ATM "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 795 ATM "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 795 ATM Melanoma MONDO_0005105 "Disgenet " 795 ATM "Hereditary Breast and Ovarian Cancer Syndrome" MONDO_0003582 "Disgenet " 795 ATM "Pancreatic carcinoma" MONDO_0005192 "Disgenet " 795 ATM "Cancer, Lung" MONDO_0008903 "Disgenet " 795 ATM "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 795 ATM "T-cell prolymphocytic leukaemia" MONDO_0019468 "Disgenet " 795 ATM "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 795 ATM Glioblastoma MONDO_0018177 "Disgenet " 795 ATM "Hereditary Pancreatic Carcinoma" MONDO_0015278 "Disgenet " 795 ATM "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 795 ATM "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 795 ATM "Malignant neoplasm of brain" MONDO_0001657 "Disgenet " 795 ATM "Multiple Myeloma" MONDO_0009693 "Disgenet " 795 ATM "ataxia telangiectasia" MONDO:0008840 "ClinGen " 795 ATM "ATM-related cancer predisposition" MONDO:0700270 "ClinGen " 795 ATM "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 795 ATM "Malignant neoplasm of pancreas" MONDO_0021040 "Disgenet " 795 ATM "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 795 ATM "Liver cell carcinoma" MONDO_0007256 "Disgenet " 795 ATM "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 795 ATM "Familial Malignant Neoplasm" "Disgenet " 795 ATM "Cancer, Ovarian" MONDO_0008170 "Disgenet " 795 ATM "familial cancer of breast" MONDO_0016419 "Disgenet " 795 ATM "Papillary Thyroid Carcinoma" MONDO_0005075 "Disgenet " 795 ATM "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 795 ATM "ovarian epithelial cancer" MONDO_0005140 "Disgenet " 795 ATM Adenocarcinoma MONDO_0004970 "Disgenet " 795 ATM "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 795 ATM "Cancer Syndrome, Hereditary" MONDO_0015356 "Disgenet " 795 ATM hypernephroma MONDO_0005086 "Disgenet " 795 ATM Endometrium MONDO_0011962 "Disgenet " 795 ATM "Lymphoma, Peripheral T-Cell" MONDO_0004964 "Disgenet " 795 ATM "breast neoplasm malignant female carcinoma" MONDO_0004379 "Disgenet " 795 ATM "Malignant neoplasm of breast (female), unspecified" MONDO_0004379 "Disgenet " 795 ATM "Parkinson Disease" MONDO_0014796 "Disgenet " 7955 NPY "Cerebral Infarction" MONDO_0002679 "Disgenet " 7955 NPY "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 7955 NPY "Depressions, Unipolar" MONDO_0002050 "Disgenet " 7955 NPY Alcoholism MONDO_0002046 "Disgenet " 7955 NPY "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 7955 NPY Anorexia "Disgenet " 7955 NPY "High blood pressure" MONDO_0005044 "Disgenet " 7955 NPY Asthma MONDO_0004979 "Disgenet " 7955 NPY "Alcohol Related Disorders" MONDO_0021698 "Disgenet " 7955 NPY "Absence Epilepsy" MONDO_0010826 "Disgenet " 7955 NPY "Anxiety Disorder" MONDO_0005618 "Disgenet " 7955 NPY Depression MONDO_0002050 "Disgenet " 7955 NPY "Cocaine dependence" MONDO_0005186 "Disgenet " 7955 NPY "Cardiovascular Disease" MONDO_0004995 "Disgenet " 7955 NPY Schizophrenias MONDO_0005090 "Disgenet " 7955 NPY "Depressive neurosis" MONDO_0002050 "Disgenet " 7955 NPY Epilepsies MONDO_0005027 "Disgenet " 7955 NPY "Affective Disorders" MONDO_0005371 "Disgenet " 7955 NPY "Alzheimer Disease" MONDO_0012630 "Disgenet " 7955 NPY "Temporal lobe epilepsy" MONDO_0005115 "Disgenet " 7955 NPY "Chorea, Huntington" MONDO_0011671 "Disgenet " 7955 NPY "Abuse, Alcohol" MONDO_0002046 "Disgenet " 7956 NPY1R Obesity MONDO_0019182 "Disgenet " 7958 NPY5R Alcoholism MONDO_0002046 "Disgenet " 7958 NPY5R Obesity MONDO_0019182 "Disgenet " 7960 NR0B1 AHCH MONDO_0010264 "Disgenet " 7960 NR0B1 DSS MONDO_0010226 "Disgenet " 7960 NR0B1 Oligospermia MONDO_0001913 "Disgenet " 7960 NR0B1 Hypogonadism MONDO_0002146 "Disgenet " 7961 NR0B2 Obesity MONDO_0019182 "Disgenet " 7961 NR0B2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 7961 NR0B2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 7961 NR0B2 "Fatty Liver" MONDO_0004790 "Disgenet " 7962 NR1D1 "Depressive neurosis" MONDO_0002050 "Disgenet " 7962 NR1D1 "Affective Disorder, Seasonal" MONDO_0000694 "Disgenet " 7962 NR1D1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 7965 NR1H2 Obesity MONDO_0019182 "Disgenet " 7965 NR1H2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 7965 NR1H2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 7966 NR1H3 Obesity MONDO_0019182 "Disgenet " 7966 NR1H3 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 7966 NR1H3 "Fatty Liver" MONDO_0004790 "Disgenet " 7966 NR1H3 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 7968 NR1I2 "Barrett Esophagus" MONDO_0013662 "Disgenet " 7968 NR1I2 "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 7968 NR1I2 "Fatty Liver" MONDO_0004790 "Disgenet " 7968 NR1I2 "Syndrome X, Reaven" MONDO_0011565 "Disgenet " 7968 NR1I2 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 7968 NR1I2 Obesity MONDO_0019182 "Disgenet " 7969 NR1I3 "Liver Neoplasm" MONDO_0002691 "Disgenet " 7969 NR1I3 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 7969 NR1I3 Obesity MONDO_0019182 "Disgenet " 7969 NR1I3 "Syndrome X, Reaven" MONDO_0011565 "Disgenet " 7974 NR2E3 "Leber congenital amaurosis" MONDO_0018998 "Disgenet " 7974 NR2E3 "RETINITIS PIGMENTOSA 37" MONDO_0012625 "Disgenet " 7974 NR2E3 "Retinal dystrophy" MONDO_0019118 "Disgenet " 7974 NR2E3 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 7974 NR2E3 "GOLDMANN-FAVRE SYNDROME" MONDO_0100289 "Disgenet " 7974 NR2E3 "ENHANCED S-CONE SYNDROME" MONDO_0100288 "Disgenet " 7975 NR2F1 "BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME" MONDO_0014320 "Disgenet " 7975 NR2F1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 7975 NR2F1 "Global developmental delay" "Disgenet " 7975 NR2F1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 7975 NR2F1 "Bosch-Boonstra-Schaaf optic atrophy syndrome" MONDO:0014320 "ClinGen " 7976 NR2F2 "NR2F2 related multiple congenital anomalies/dysmorphic syndrome" MONDO:0800458 "ClinGen " 7976 NR2F2 "Diaphragmatic Hernias" MONDO_0005711 "Disgenet " 7976 NR2F2 Endometrioses MONDO_0005133 "Disgenet " 7977 NR2F6 "Breast Neoplasms" MONDO_0021100 "Disgenet " 7978 NR3C1 "Hypertensions, Ocular" MONDO_0006875 "Disgenet " 7978 NR3C1 "Alcoholic Intoxication" "Disgenet " 7978 NR3C1 "Coronary Disease" MONDO_0005010 "Disgenet " 7978 NR3C1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 7978 NR3C1 "Diseases, Lung" MONDO_0005275 "Disgenet " 7978 NR3C1 "Anorexia Nervosa" MONDO_0005351 "Disgenet " 7978 NR3C1 "Cortisol Resistance from Glucocorticoid Receptor Defect" MONDO_0014421 "Disgenet " 7978 NR3C1 Depression MONDO_0002050 "Disgenet " 7978 NR3C1 "Depressive neurosis" MONDO_0002050 "Disgenet " 7978 NR3C1 Asthma MONDO_0004979 "Disgenet " 7978 NR3C1 "Lung Disease, Obstructive" MONDO_0002267 "Disgenet " 7978 NR3C1 "Generalized glucocorticoid resistance syndrome (disorder)" MONDO_0014421 "Disgenet " 7978 NR3C1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 7978 NR3C1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 7978 NR3C1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 7978 NR3C1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 7978 NR3C1 "Affective Disorders" MONDO_0005371 "Disgenet " 7978 NR3C1 COPD MONDO_0005002 "Disgenet " 7978 NR3C1 Schizophrenias MONDO_0005090 "Disgenet " 7978 NR3C1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 7978 NR3C1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 7978 NR3C1 "Pituitary-dependent Cushing's disease" MONDO_0020528 "Disgenet " 7978 NR3C1 "High blood pressure" MONDO_0005044 "Disgenet " 7978 NR3C1 Obesity MONDO_0019182 "Disgenet " 7979 NR3C2 "Congestive heart failure" MONDO_0005252 "Disgenet " 7979 NR3C2 "PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT" MONDO_0008329 "Disgenet " 7979 NR3C2 "pseudohyperaldosteronism type 2" MONDO:0011517 "ClinGen " 7979 NR3C2 "autosomal dominant pseudohypoaldosteronism type 1" MONDO:0008329 "ClinGen " 7979 NR3C2 "HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY" MONDO_0011517 "Disgenet " 7979 NR3C2 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 7979 NR3C2 CRC MONDO_0005335 "Disgenet " 7979 NR3C2 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 7979 NR3C2 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 7979 NR3C2 "Pseudohypoaldosteronism, Type I, Autosomal Recessive" MONDO_0008329 "Disgenet " 7979 NR3C2 "Heart failure" MONDO_0005252 "Disgenet " 7979 NR3C2 Pseudohypoaldosteronism MONDO_0018638 "Disgenet " 7979 NR3C2 "Depressive neurosis" MONDO_0002050 "Disgenet " 7979 NR3C2 Depression MONDO_0002050 "Disgenet " 7979 NR3C2 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 7980 NR4A1 Endometrioses MONDO_0005133 "Disgenet " 7980 NR4A1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 7981 NR4A2 IDLDP MONDO_0859257 "Disgenet " 7981 NR4A2 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 7981 NR4A2 Schizophrenias MONDO_0005090 "Disgenet " 7981 NR4A2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 7981 NR4A2 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 7981 NR4A2 Epilepsies MONDO_0005027 "Disgenet " 7981 NR4A2 "Parkinson Disease" MONDO_0014796 "Disgenet " 7981 NR4A2 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 7981 NR4A2 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 7981 NR4A2 Alcoholism MONDO_0002046 "Disgenet " 7981 NR4A2 "Arthritic Psoriasis" MONDO_0011849 "Disgenet " 7981 NR4A2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 7981 NR4A2 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 7982 NR4A3 "Extraosseous Chondrosarcoma" MONDO_0012825 "Disgenet " 7982 NR4A3 Hypercholesteremias "Disgenet " 7984 NR5A2 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 7984 NR5A2 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 7989 NRAS "lymphoid neoplasm" MONDO_0005157 "Disgenet " 7989 NRAS "AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME" MONDO_0011158 "Disgenet " 7989 NRAS "B Cell Lymphoma" MONDO_0015759 "Disgenet " 7989 NRAS "Brain Neoplasms" MONDO_0021211 "Disgenet " 7989 NRAS "Granulomatosis, Langerhans-Cell" MONDO_0018310 "Disgenet " 7989 NRAS "Neoplasm, Thyroid" MONDO_0015074 "Disgenet " 7989 NRAS "Epidermal naevus" MONDO_0008093 "Disgenet " 7989 NRAS "Congenital Nevus of the Skin" MONDO_0044792 "Disgenet " 7989 NRAS Lymphomas MONDO_0005062 "Disgenet " 7989 NRAS "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 7989 NRAS "Dysmyelopoietic Syndrome" MONDO_0018881 "Disgenet " 7989 NRAS "Liver cell carcinoma" MONDO_0007256 "Disgenet " 7989 NRAS "Papillary Thyroid Carcinoma" MONDO_0005075 "Disgenet " 7989 NRAS NS6 MONDO_0013186 "Disgenet " 7989 NRAS "Sebaceous naevus" MONDO_0008097 "Disgenet " 7989 NRAS "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 7989 NRAS "Adrenal cortical carcinoma" MONDO_0006639 "Disgenet " 7989 NRAS "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 7989 NRAS Anemia MONDO_0002280 "Disgenet " 7989 NRAS "Well Differentiated Thyroid Carcinoma" MONDO_0015447 "Disgenet " 7989 NRAS Medulloblastoma MONDO_0007959 "Disgenet " 7989 NRAS "Follicular thyroid cancer" MONDO_0008566 "Disgenet " 7989 NRAS "Noonan syndrome" MONDO:0018997 "ClinGen " 7989 NRAS "Costello syndrome" MONDO:0009026 "ClinGen " 7989 NRAS "cardiofaciocutaneous syndrome" MONDO:0015280 "ClinGen " 7989 NRAS "Noonan syndrome with multiple lentigines" MONDO:0007893 "ClinGen " 7989 NRAS "Adenocarcinoma, Follicular" MONDO_0005034 "Disgenet " 7989 NRAS "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 7989 NRAS RASopathy MONDO_0021060 "Disgenet " 7989 NRAS "Neoplasm, Rectal" MONDO_0002165 "Disgenet " 7989 NRAS ALL MONDO_0004967 "Disgenet " 7989 NRAS "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 7989 NRAS Neuroblastoma MONDO_0005072 "Disgenet " 7989 NRAS "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 7989 NRAS Leukemias MONDO_0005059 "Disgenet " 7989 NRAS "Multiple Myeloma" MONDO_0009693 "Disgenet " 7989 NRAS "MELANOSIS, NEUROCUTANEOUS" MONDO_0009578 "Disgenet " 7989 NRAS "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 7989 NRAS CRC MONDO_0005335 "Disgenet " 7989 NRAS ALPS4 MONDO_0013767 "Disgenet " 7989 NRAS Glioblastoma MONDO_0018177 "Disgenet " 7989 NRAS "Malignant melanoma of skin" MONDO_0005012 "Disgenet " 7989 NRAS JMML MONDO_0011908 "Disgenet " 7989 NRAS Melanoma MONDO_0005105 "Disgenet " 7989 NRAS "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 7989 NRAS GPHN MONDO_0044792 "Disgenet " 7989 NRAS "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 7989 NRAS "Noonan Syndrome" MONDO_0018997 "Disgenet " 7989 NRAS "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 799 ATP1A1 Adenoma MONDO_0004972 "Disgenet " 799 ATP1A1 Hyperaldosteronism MONDO_0003009 "Disgenet " 799 ATP1A1 "High blood pressure" MONDO_0005044 "Disgenet " 799 ATP1A1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 799 ATP1A1 "charcot-marie-tooth disease, axonal, type 2DD" MONDO:0054833 "ClinGen " 799 ATP1A1 CMT2DD MONDO_0054833 "Disgenet " 7994 NRCAM "Childhood autism" MONDO_0005260 "Disgenet " 7995 NRDC Alcoholism MONDO_0002046 "Disgenet " 800 ATP1A2 Arthrogryposes MONDO_0015168 "Disgenet " 800 ATP1A2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 800 ATP1A2 "epileptic encephalopathy" "Disgenet " 800 ATP1A2 "Hydrops Fetalis" MONDO_0015193 "Disgenet " 800 ATP1A2 "Hemiplegic migraine" MONDO_0018925 "Disgenet " 800 ATP1A2 "Familial Hemiplegic Migraine" MONDO_0000700 "Disgenet " 800 ATP1A2 Polymicrogyria MONDO_0000087 "Disgenet " 800 ATP1A2 "High blood pressure" MONDO_0005044 "Disgenet " 800 ATP1A2 "hemiplegic migraine-developmental and epileptic encephalopathy spectrum" MONDO:0100539 "ClinGen " 800 ATP1A2 "fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies" MONDO:0859204 "ClinGen " 800 ATP1A2 "ALTERNATING HEMIPLEGIA OF CHILDHOOD 1" MONDO_0007087 "Disgenet " 800 ATP1A2 "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98" MONDO_0030472 "Disgenet " 800 ATP1A2 FHM2 MONDO_0011232 "Disgenet " 800 ATP1A2 "alternating hemiplegia of childhood (diagnosis)" MONDO_0016241 "Disgenet " 800 ATP1A2 "Migraine with aura" MONDO_0005475 "Disgenet " 800 ATP1A2 Epilepsies MONDO_0005027 "Disgenet " 8000 NRGN Schizophrenias MONDO_0005090 "Disgenet " 8000 NRGN "Bipolar Disorders" MONDO_0004985 "Disgenet " 8001 NRIP1 Cakut MONDO_0019719 "Disgenet " 8001 NRIP1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 8001 NRIP1 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 8002 NRL "Retinal dystrophy" MONDO_0019118 "Disgenet " 8002 NRL "RETINITIS PIGMENTOSA 27" MONDO_0013402 "Disgenet " 8002 NRL "RETINITIS PIGMENTOSA 1" MONDO_0019200 "Disgenet " 8002 NRL "ENHANCED S-CONE SYNDROME" MONDO_0100288 "Disgenet " 8002 NRL "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 8002 NRL "retinitis pigmentosa 27" MONDO:0013402 "ClinGen " 8004 NRP1 "congenital heart disease" MONDO:0005453 "ClinGen " 8004 NRP1 Endometrioses MONDO_0005133 "Disgenet " 8004 NRP1 "Fallot Tetralogy" MONDO_0008542 "Disgenet " 8004 NRP1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 8004 NRP1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 8004 NRP1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 8005 NRP2 "Childhood autism" MONDO_0005260 "Disgenet " 8007 NRTN "Disease, Hirschsprung" MONDO_0018309 "Disgenet " 8008 NRXN1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 8008 NRXN1 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 8008 NRXN1 "Childhood autism" MONDO_0005260 "Disgenet " 8008 NRXN1 "Depressive neurosis" MONDO_0002050 "Disgenet " 8008 NRXN1 Depression MONDO_0002050 "Disgenet " 8008 NRXN1 "PITT-HOPKINS SYNDROME" MONDO_0012589 "Disgenet " 8008 NRXN1 "Global developmental delay" "Disgenet " 8008 NRXN1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 8008 NRXN1 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 8008 NRXN1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 8008 NRXN1 Schizophrenias MONDO_0005090 "Disgenet " 8008 NRXN1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 8009 NRXN2 Epilepsies MONDO_0005027 "Disgenet " 8009 NRXN2 "Childhood autism" MONDO_0005260 "Disgenet " 8009 NRXN2 Schizophrenias MONDO_0005090 "Disgenet " 8009 NRXN2 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 8009 NRXN2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 801 ATP1A3 "epileptic encephalopathy" "Disgenet " 801 ATP1A3 "Global developmental delay" "Disgenet " 801 ATP1A3 Depression MONDO_0002050 "Disgenet " 801 ATP1A3 "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99" MONDO_0030473 "Disgenet " 801 ATP1A3 Parkinsonism MONDO_0021095 "Disgenet " 801 ATP1A3 AHC2 MONDO_0013900 "Disgenet " 801 ATP1A3 "Depressive neurosis" MONDO_0002050 "Disgenet " 801 ATP1A3 "ATP1A3-associated neurological disorder" MONDO:0700002 "ClinGen " 801 ATP1A3 Dystonia MONDO_0003441 "Disgenet " 801 ATP1A3 Epilepsies MONDO_0005027 "Disgenet " 801 ATP1A3 "DYSTONIA 12" MONDO_0007496 "Disgenet " 801 ATP1A3 "alternating hemiplegia of childhood (diagnosis)" MONDO_0016241 "Disgenet " 801 ATP1A3 "CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS" MONDO_0011038 "Disgenet " 801 ATP1A3 "Bipolar Disorders" MONDO_0004985 "Disgenet " 8010 NRXN3 Schizophrenias MONDO_0005090 "Disgenet " 8010 NRXN3 "Childhood autism" MONDO_0005260 "Disgenet " 8010 NRXN3 Alcoholism MONDO_0002046 "Disgenet " 8011 CNTNAP1 Arthrogryposes MONDO_0015168 "Disgenet " 8013 HMGN5 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 8013 HMGN5 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 8013 HMGN5 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 8013 HMGN5 Gliomas MONDO_0021042 "Disgenet " 8014 YBX1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 8014 YBX1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 8016 NSF DEE96 MONDO_0023659 "Disgenet " 8016 NSF "Cocaine dependence" MONDO_0005186 "Disgenet " 8021 NT5E Neuroblastoma MONDO_0005072 "Disgenet " 8021 NT5E "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 8021 NT5E "CALCIFICATION OF JOINTS AND ARTERIES" MONDO_0008895 "Disgenet " 8022 NT5C2 SPG45 MONDO_0013165 "Disgenet " 8022 NT5C2 ALL MONDO_0004967 "Disgenet " 8022 NT5C2 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 8022 NT5C2 "complex hereditary spastic paraplegia" MONDO:0015150 "ClinGen " 8023 NTF3 "Affective Disorders" MONDO_0005371 "Disgenet " 8023 NTF3 "Down Syndrome" MONDO_0008608 "Disgenet " 8023 NTF3 "Diabetic Neuropathies" MONDO_0006626 "Disgenet " 8023 NTF3 Asthma MONDO_0004979 "Disgenet " 8023 NTF3 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 8023 NTF3 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 8023 NTF3 "Childhood autism" MONDO_0005260 "Disgenet " 8023 NTF3 "Status Epilepticus" MONDO_0002125 "Disgenet " 8023 NTF3 Schizophrenias MONDO_0005090 "Disgenet " 8023 NTF3 "Alzheimer Disease" MONDO_0012630 "Disgenet " 8024 NTF4 "glaucoma 1, open angle, O" MONDO:0013134 "ClinGen " 8024 NTF4 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 8024 NTF4 "Childhood autism" MONDO_0005260 "Disgenet " 8024 NTF4 "GLAUCOMA 1, OPEN ANGLE, O" MONDO_0013134 "Disgenet " 8028 NTHL1 "NTHL1-deficiency tumor predisposition syndrome" MONDO:0100502 "ClinGen " 8028 NTHL1 "FAMILIAL ADENOMATOUS POLYPOSIS 3" MONDO_0014630 "Disgenet " 8028 NTHL1 "Adenomatous Polyposis Coli" MONDO_0021056 "Disgenet " 8029 NTN1 "Hemorrhages, Subarachnoid" MONDO_0005099 "Disgenet " 8029 NTN1 "OROFACIAL CLEFT 1" MONDO_0007335 "Disgenet " 8031 NTRK1 "Type IV, HSAN" MONDO_0009746 "Disgenet " 8031 NTRK1 "Hereditary Sensory and Autonomic Neuropathies" MONDO_0015364 "Disgenet " 8031 NTRK1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 8031 NTRK1 Gliomas MONDO_0021042 "Disgenet " 8031 NTRK1 "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V" MONDO_0012092 "Disgenet " 8031 NTRK1 "Hereditary Sensory Neuropathies" MONDO_0015364 "Disgenet " 8031 NTRK1 Schizophrenias MONDO_0005090 "Disgenet " 8031 NTRK1 Neuroblastoma MONDO_0005072 "Disgenet " 8031 NTRK1 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 8031 NTRK1 "Glioma, malignant" MONDO_0100342 "Disgenet " 8031 NTRK1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 8031 NTRK1 "Hereditary Thyroid Gland Medullary Carcinoma" MONDO_0007958 "Disgenet " 8031 NTRK1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 8031 NTRK1 "hereditary sensory and autonomic neuropathy type 4" MONDO:0009746 "ClinGen " 8032 NTRK2 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 8032 NTRK2 "Status Epilepticus" MONDO_0002125 "Disgenet " 8032 NTRK2 Neuroblastoma MONDO_0005072 "Disgenet " 8032 NTRK2 "Morbid Obesities" MONDO_0005139 "Disgenet " 8032 NTRK2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 8032 NTRK2 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 8032 NTRK2 "Depressive neurosis" MONDO_0002050 "Disgenet " 8032 NTRK2 EIEE58 MONDO_0033367 "Disgenet " 8032 NTRK2 "OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY" MONDO_0013483 "Disgenet " 8032 NTRK2 Obesity MONDO_0019182 "Disgenet " 8032 NTRK2 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 8032 NTRK2 "CARCINOMA OF LUNG" MONDO_0005138 "Disgenet " 8032 NTRK2 "Childhood autism" MONDO_0005260 "Disgenet " 8032 NTRK2 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 8032 NTRK2 "Alzheimer Disease" MONDO_0012630 "Disgenet " 8032 NTRK2 Depression MONDO_0002050 "Disgenet " 8032 NTRK2 Schizophrenias MONDO_0005090 "Disgenet " 8032 NTRK2 Alcoholism MONDO_0002046 "Disgenet " 8032 NTRK2 Gliomas MONDO_0021042 "Disgenet " 8032 NTRK2 "Affective Disorders" MONDO_0005371 "Disgenet " 8032 NTRK2 Astrocytoma MONDO_0019781 "Disgenet " 8032 NTRK2 "Glioma, malignant" MONDO_0100342 "Disgenet " 8033 NTRK3 "Adenoid cystic carcinoma" MONDO_0003175 "Disgenet " 8033 NTRK3 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 8033 NTRK3 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 8033 NTRK3 "Congenital Mesoblastic Nephromas" MONDO_0017043 "Disgenet " 8033 NTRK3 "congenital heart disease" MONDO:0005453 "ClinGen " 8033 NTRK3 Schizophrenias MONDO_0005090 "Disgenet " 8033 NTRK3 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 8033 NTRK3 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 8033 NTRK3 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 8033 NTRK3 "CARCINOMA OF LUNG" MONDO_0005138 "Disgenet " 8033 NTRK3 Gliomas MONDO_0021042 "Disgenet " 8033 NTRK3 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 8033 NTRK3 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 8038 NTS "Affective Disorders" MONDO_0005371 "Disgenet " 8038 NTS Catalepsies "Disgenet " 8038 NTS "Depressive neurosis" MONDO_0002050 "Disgenet " 8038 NTS Alcoholism MONDO_0002046 "Disgenet " 8038 NTS "Breast cancer (ductal)" MONDO_0004953 "Disgenet " 8038 NTS Depression MONDO_0002050 "Disgenet " 8038 NTS Schizophrenias MONDO_0005090 "Disgenet " 804 ATP1B1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 8049 NUDT2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 805 ATP1B2 Gliomas MONDO_0021042 "Disgenet " 8059 NUMA1 "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 8065 NUP50 "amyotrophic lateral sclerosis" MONDO:0004976 "ClinGen " 8066 NUP62 "Leigh syndrome" MONDO:0009723 "ClinGen " 8066 NUP62 SNDI MONDO_0003122 "Disgenet " 8067 NUP88 "FETAL AKINESIA DEFORMATION SEQUENCE 4" MONDO_0100104 "Disgenet " 8068 NUP98 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 8086 OAS1 "Viral illness" MONDO_0005108 "Disgenet " 8086 OAS1 "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 8091 OAT ornithinemia MONDO_0009796 "Disgenet " 8091 OAT "Atrophy, Gyrate" MONDO_0009796 "Disgenet " 8091 OAT "ornithine aminotransferase deficiency" MONDO:0009796 "ClinGen " 8101 OCA2 "oculocutaneous albinism type 2" MONDO:0008746 "ClinGen " 8101 OCA2 "Malignant melanoma of skin" MONDO_0005012 "Disgenet " 8101 OCA2 "Albinism, Oculocutaneous" MONDO_0018910 "Disgenet " 8101 OCA2 "Cancer, Breast" MONDO_0007254 "Disgenet " 8101 OCA2 OCA2 MONDO_0008746 "Disgenet " 8101 OCA2 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 8101 OCA2 Albinism MONDO_0007862 "Disgenet " 8104 OCLN "Baraitser Brett Piesowicz syndrome" MONDO_0009626 "Disgenet " 8104 OCLN "PSEUDO-TORCH SYNDROME 1" MONDO_0009626 "Disgenet " 8104 OCLN "Microcephaly, congenital" "Disgenet " 8104 OCLN "Breast Neoplasms" MONDO_0021100 "Disgenet " 8108 OCRL "DENT DISEASE 2" MONDO_0010359 "Disgenet " 8108 OCRL "oculocerebrorenal syndrome" MONDO:0010645 "ClinGen " 8108 OCRL "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 8108 OCRL "Dent's disease" MONDO_0015612 "Disgenet " 8108 OCRL "Congenital cataract" MONDO_0008925 "Disgenet " 8108 OCRL "Oculocerebrorenal Syndrome" MONDO_0010645 "Disgenet " 8109 ODC1 NEDABA MONDO_0033642 "Disgenet " 8109 ODC1 Papilloma MONDO_0002363 "Disgenet " 8109 ODC1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 8109 ODC1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 8109 ODC1 "Neoplasm, Skin" MONDO_0002531 "Disgenet " 8111 OSR1 "congenital heart disease" MONDO:0005453 "ClinGen " 812 ATP2A2 "Dariers Disease" MONDO_0007417 "Disgenet " 812 ATP2A2 "Depressive neurosis" MONDO_0002050 "Disgenet " 812 ATP2A2 "Affective Disorders" MONDO_0005371 "Disgenet " 812 ATP2A2 Depression MONDO_0002050 "Disgenet " 812 ATP2A2 "Congestive heart failure" MONDO_0005252 "Disgenet " 812 ATP2A2 "Heart failure" MONDO_0005252 "Disgenet " 812 ATP2A2 "ACROKERATOSIS VERRUCIFORMIS" MONDO_0007048 "Disgenet " 812 ATP2A2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 812 ATP2A2 Schizophrenias MONDO_0005090 "Disgenet " 812 ATP2A2 "Cardiac Disease" MONDO_0005267 "Disgenet " 812 ATP2A2 "Diabetic cardiomyopathy" "Disgenet " 8124 OGDH "ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY" MONDO_0008759 "Disgenet " 8125 OGG1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 8125 OGG1 "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 8125 OGG1 "Infertility, Male" MONDO_0005372 "Disgenet " 8125 OGG1 Cholangiocarcinoma MONDO_0019087 "Disgenet " 8125 OGG1 Adenocarcinoma MONDO_0004970 "Disgenet " 8125 OGG1 "Chorea, Huntington" MONDO_0011671 "Disgenet " 8125 OGG1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 8125 OGG1 "Cancer, Breast" MONDO_0007254 "Disgenet " 8125 OGG1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 8125 OGG1 Angiomyolipoma MONDO_0002603 "Disgenet " 8125 OGG1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 8125 OGG1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 8125 OGG1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 8125 OGG1 Pterygium MONDO_0005085 "Disgenet " 8125 OGG1 "High blood pressure" MONDO_0005044 "Disgenet " 8125 OGG1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 8125 OGG1 "Senile cataract" MONDO_0004847 "Disgenet " 8125 OGG1 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 8125 OGG1 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 8125 OGG1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 8125 OGG1 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 8125 OGG1 hypernephroma MONDO_0005086 "Disgenet " 8127 OGT "intellectual disability, X-linked 106" MONDO:0030907 "ClinGen " 8127 OGT MRX106 MONDO_0030907 "Disgenet " 813 ATP2A3 Adenoma MONDO_0004972 "Disgenet " 813 ATP2A3 "Cancer, Breast" MONDO_0007254 "Disgenet " 8133 OLR1 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 8133 OLR1 "Coronary Disease" MONDO_0005010 "Disgenet " 8133 OLR1 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 8133 OLR1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 8133 OLR1 "High blood pressure" MONDO_0005044 "Disgenet " 814 ATP2B1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 814 ATP2B1 "High blood pressure" MONDO_0005044 "Disgenet " 8140 OPA1 "BEHR SYNDROME" MONDO_0008858 "Disgenet " 8140 OPA1 "Atrophy, Optic" MONDO_0003608 "Disgenet " 8140 OPA1 "Autosomal Dominant Optic Atrophy" MONDO_0020250 "Disgenet " 8140 OPA1 Schizophrenias MONDO_0005090 "Disgenet " 8140 OPA1 "OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY" MONDO_0007429 "Disgenet " 8140 OPA1 MTDPS14 MONDO_0014820 "Disgenet " 8140 OPA1 "OPTIC ATROPHY 1" MONDO_0020250 "Disgenet " 8140 OPA1 "Auditory neuropathy" MONDO_0021944 "Disgenet " 8140 OPA1 "Auditory neuropathy spectrum disorder (disorder)" MONDO_0021944 "Disgenet " 8140 OPA1 "Leigh syndrome" MONDO:0009723 "ClinGen " 8140 OPA1 "OPA1-related optic atrophy with or without extraocular features" MONDO:0800181 "ClinGen " 8140 OPA1 "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 8140 OPA1 "Normal tension glaucoma" MONDO_0006837 "Disgenet " 8142 OPA3 "OPTIC ATROPHY 1" MONDO_0020250 "Disgenet " 8142 OPA3 OPA3 MONDO_0008133 "Disgenet " 8142 OPA3 "optic atrophy 3" MONDO:0008133 "ClinGen " 8142 OPA3 "3-Methylglutaconic aciduria type 3" MONDO_0009787 "Disgenet " 8143 OPCML Schizophrenias MONDO_0005090 "Disgenet " 8143 OPCML "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 8143 OPCML "Cancer, Ovarian" MONDO_0008170 "Disgenet " 8148 OPHN1 "X-linked intellectual disability-cerebellar hypoplasia syndrome" MONDO:0010337 "ClinGen " 8148 OPHN1 "MRX60, FORMERLY" MONDO_0010337 "Disgenet " 8148 OPHN1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 8149 OPLAH "5-alpha-oxoprolinase deficiency" MONDO_0009825 "Disgenet " 815 ATP2B2 Hypoacusis MONDO_0005365 "Disgenet " 815 ATP2B2 "autosomal dominant nonsyndromic hearing loss" MONDO:0019587 "ClinGen " 8153 OPRD1 "Opioid dependence" MONDO_0005530 "Disgenet " 8153 OPRD1 "Heroin Dependence" MONDO_0005367 "Disgenet " 8153 OPRD1 "Cocaine dependence" MONDO_0005186 "Disgenet " 8153 OPRD1 Alcoholism MONDO_0002046 "Disgenet " 8155 OPRL1 Alcoholism MONDO_0002046 "Disgenet " 8157 SIGMAR1 Schizophrenias MONDO_0005090 "Disgenet " 8157 SIGMAR1 ALS16 MONDO_0013715 "Disgenet " 8157 SIGMAR1 HMNJ MONDO_0011585 "Disgenet " 8157 SIGMAR1 "Frontotemporal Lobar Degeneration" "Disgenet " 8157 SIGMAR1 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 823 ATP5F1A "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4B" MONDO_0014091 "Disgenet " 823 ATP5F1A "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A" MONDO_0957254 "Disgenet " 823 ATP5F1A "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22" MONDO_0020727 "Disgenet " 823 ATP5F1A "Alzheimer Disease" MONDO_0012630 "Disgenet " 837 ATP5F1D MC5DN5 MONDO_0020858 "Disgenet " 838 ATP5F1E MC5DN3 MONDO_0013547 "Disgenet " 84 ACACA CRC MONDO_0005335 "Disgenet " 84 ACACA "Liver cell carcinoma" MONDO_0007256 "Disgenet " 843 ATP5MC3 "DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA" MONDO_0859215 "Disgenet " 8487 ORC1 Dwarfism "Disgenet " 8487 ORC1 MGORS1 MONDO_0009143 "Disgenet " 8487 ORC1 Microcephalies MONDO_0001149 "Disgenet " 8487 ORC1 "EAR, PATELLA, SHORT STATURE SYNDROME" MONDO_0016817 "Disgenet " 8490 ORC4 "Meier-Gorlin syndrome 2" MONDO:0013428 "ClinGen " 8490 ORC4 "EAR, PATELLA, SHORT STATURE SYNDROME" MONDO_0016817 "Disgenet " 8490 ORC4 "MEIER-GORLIN SYNDROME 2" MONDO_0013428 "Disgenet " 85 ACACB Obesity MONDO_0019182 "Disgenet " 85 ACACB "Breast Neoplasms" MONDO_0021100 "Disgenet " 8507 OSMR "Primary Localized Cutaneous Amyloidosis" MONDO_0015301 "Disgenet " 8507 OSMR "Familial localised cutaneous amyloidosis" MONDO_0007101 "Disgenet " 8507 OSMR PLCA1 MONDO_0024522 "Disgenet " 8508 OXSR1 "High blood pressure" MONDO_0005044 "Disgenet " 851 ATP6V1A DEE93 MONDO_0020632 "Disgenet " 851 ATP6V1A Encephalopathy MONDO_0005560 "Disgenet " 851 ATP6V1A "autosomal recessive cutis laxa type 2D" MONDO:0027451 "ClinGen " 851 ATP6V1A "Cutis Laxa" MONDO_0007411 "Disgenet " 851 ATP6V1A "CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID" MONDO_0027451 "Disgenet " 8514 CLDN11 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 8515 OTOF "Sensorineural hearing loss, bilateral" MONDO_0013269 "Disgenet " 8515 OTOF Hypoacusis MONDO_0005365 "Disgenet " 8515 OTOF "Auditory neuropathy spectrum disorder (disorder)" MONDO_0021944 "Disgenet " 8515 OTOF "Auditory neuropathy" MONDO_0021944 "Disgenet " 8515 OTOF DFNB9 MONDO_0010986 "Disgenet " 8515 OTOF "DEAFNESS, AUTOSOMAL RECESSIVE" MONDO_0019588 "Disgenet " 8515 OTOF "autosomal recessive nonsyndromic hearing loss 9" MONDO:0010986 "ClinGen " 8516 OTOG "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 8516 OTOG "Disease, Meniere" MONDO_0007972 "Disgenet " 8516 OTOG DFNB18B MONDO_0013985 "Disgenet " 8516 OTOG Hypoacusis MONDO_0005365 "Disgenet " 8522 OTX2 "Retinal dystrophy" MONDO_0019118 "Disgenet " 8522 OTX2 Anxiety MONDO_0001942 "Disgenet " 8522 OTX2 MCOPS5 MONDO_0012413 "Disgenet " 8522 OTX2 "Syndromic microphthalmia" MONDO_0016073 "Disgenet " 8522 OTX2 "Leber congenital amaurosis" MONDO_0018998 "Disgenet " 8522 OTX2 Anophthalmias "Disgenet " 8522 OTX2 Medulloblastoma MONDO_0007959 "Disgenet " 8522 OTX2 Panhypopituitarism MONDO_0019591 "Disgenet " 8527 OXCT1 "Ketoacidosis due to SCOT deficiency" MONDO_0009492 "Disgenet " 8529 OXTR Schizophrenias MONDO_0005090 "Disgenet " 8529 OXTR Depression MONDO_0002050 "Disgenet " 8529 OXTR "Depressive neurosis" MONDO_0002050 "Disgenet " 8529 OXTR "Childhood autism" MONDO_0005260 "Disgenet " 8529 OXTR "Depressions, Unipolar" MONDO_0002050 "Disgenet " 8529 OXTR "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 8529 OXTR "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 853 ATP6V1B1 "Renal tubular acidosis" MONDO_0001909 "Disgenet " 853 ATP6V1B1 "Renal Tubular Acidosis, Type I" MONDO_0015827 "Disgenet " 853 ATP6V1B1 Nephrolithiasis MONDO_0008171 "Disgenet " 853 ATP6V1B1 "renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss" MONDO:0009968 "ClinGen " 853 ATP6V1B1 Nephrocalcinoses MONDO_0001567 "Disgenet " 853 ATP6V1B1 "RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE" MONDO_0018440 "Disgenet " 8535 P2RX4 Epilepsies MONDO_0005027 "Disgenet " 8537 P2RX7 "Temporal lobe epilepsy" MONDO_0005115 "Disgenet " 8537 P2RX7 "Cord Injuries, Spinal" MONDO_0043797 "Disgenet " 8537 P2RX7 CRC MONDO_0005335 "Disgenet " 8537 P2RX7 "Depressive neurosis" MONDO_0002050 "Disgenet " 8537 P2RX7 Depression MONDO_0002050 "Disgenet " 8537 P2RX7 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 8537 P2RX7 "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 8537 P2RX7 "Affective Disorders" MONDO_0005371 "Disgenet " 8537 P2RX7 "Bipolar Disorders" MONDO_0004985 "Disgenet " 854 ATP6V1B2 "Deafness, Congenital, and Onychodystrophy, Autosomal Dominant" MONDO_0007420 "Disgenet " 854 ATP6V1B2 "Laband syndrome" MONDO_0000200 "Disgenet " 854 ATP6V1B2 "Brachydactyly due to Absence of Distal Phalanges" MONDO_0009079 "Disgenet " 854 ATP6V1B2 "Brill Symmers Disease" MONDO_0018906 "Disgenet " 8548 P4HB "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 8548 P4HB "Cole Carpenter syndrome" MONDO_0016085 "Disgenet " 8549 BLOC1S6 HPS9 MONDO_0013606 "Disgenet " 8549 BLOC1S6 "Hermanski Pudlak Syndrome" MONDO_0019312 "Disgenet " 8549 BLOC1S6 "Hermansky-Pudlak syndrome 9" MONDO:0013606 "ClinGen " 8554 PABPC1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 8565 PABPN1 "Oculopharyngeal dystrophy" MONDO_0958176 "Disgenet " 8568 FURIN Carcinoma MONDO_0004993 "Disgenet " 8568 FURIN "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 8568 FURIN "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 8569 PCSK6 "congenital heart disease" MONDO:0005453 "ClinGen " 857 ATP6V1E1 "Cutis Laxa" MONDO_0007411 "Disgenet " 857 ATP6V1E1 "autosomal recessive cutis laxa type 2C" MONDO:0027462 "ClinGen " 857 ATP6V1E1 ARCL2C MONDO_0027462 "Disgenet " 8574 PAFAH1B1 Pachygyria MONDO_0013541 "Disgenet " 8574 PAFAH1B1 carcinogenesis "Disgenet " 8574 PAFAH1B1 Lissencephaly MONDO_0018838 "Disgenet " 8574 PAFAH1B1 "MILLER-DIEKER LISSENCEPHALY SYNDROME" MONDO_0013415 "Disgenet " 8574 PAFAH1B1 LIS1 MONDO_0011830 "Disgenet " 8574 PAFAH1B1 "DC SYNDROME" MONDO_0020491 "Disgenet " 8574 PAFAH1B1 "Lissencephaly due to LIS1 mutation (disorder)" MONDO_0011830 "Disgenet " 8574 PAFAH1B1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 8574 PAFAH1B1 Schizophrenias MONDO_0005090 "Disgenet " 8583 SERPINE1 "Diseases, Liver" MONDO_0005154 "Disgenet " 8583 SERPINE1 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 8583 SERPINE1 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 8583 SERPINE1 Pneumonia MONDO_0005249 "Disgenet " 8583 SERPINE1 "High blood pressure" MONDO_0005044 "Disgenet " 8583 SERPINE1 Asthma MONDO_0004979 "Disgenet " 8583 SERPINE1 Obesity MONDO_0019182 "Disgenet " 8583 SERPINE1 "congenital plasminogen activator inhibitor type 1 deficiency" MONDO:0013227 "ClinGen " 8583 SERPINE1 Amyloidoses MONDO_0019065 "Disgenet " 8583 SERPINE1 Glomerulonephritides MONDO_0002462 "Disgenet " 8583 SERPINE1 "Proliferative diabetic retinopathy" MONDO_0001660 "Disgenet " 8583 SERPINE1 Atherosclerosis MONDO_0005311 "Disgenet " 8583 SERPINE1 "Coronary Disease" MONDO_0005010 "Disgenet " 8583 SERPINE1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 8583 SERPINE1 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 8583 SERPINE1 "Fatty Liver" MONDO_0004790 "Disgenet " 8583 SERPINE1 "Heart failure" MONDO_0005252 "Disgenet " 8583 SERPINE1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 8583 SERPINE1 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 8583 SERPINE1 "Congestive heart failure" MONDO_0005252 "Disgenet " 8583 SERPINE1 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 8583 SERPINE1 "Childhood autism" MONDO_0005260 "Disgenet " 8583 SERPINE1 "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 8583 SERPINE1 "PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY" MONDO_0013227 "Disgenet " 8583 SERPINE1 "Disease, Periodic" MONDO_0018088 "Disgenet " 8583 SERPINE1 "Focal Glomerulosclerosis" MONDO_0100313 "Disgenet " 8583 SERPINE1 "Angiopathies, Diabetic" MONDO_0000960 "Disgenet " 8583 SERPINE1 "GRAVES DISEASE" MONDO_0005364 "Disgenet " 8583 SERPINE1 "Behcet Syndrome" MONDO_0007191 "Disgenet " 8583 SERPINE1 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 8583 SERPINE1 "Occlusion, Retinal Vein" MONDO_0006951 "Disgenet " 8583 SERPINE1 "Portal vein thrombosis" MONDO_0001339 "Disgenet " 8583 SERPINE1 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 8583 SERPINE1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 8583 SERPINE1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 8583 SERPINE1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 8583 SERPINE1 "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 8583 SERPINE1 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 8590 PAK1 Schizophrenias MONDO_0005090 "Disgenet " 8590 PAK1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 8590 PAK1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 8590 PAK1 "Cancer, Breast" MONDO_0007254 "Disgenet " 8590 PAK1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 8590 PAK1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 8590 PAK1 "Neoplasm, Thyroid" MONDO_0015074 "Disgenet " 8591 PAK2 "KNOBLOCH SYNDROME 2" MONDO_0100119 "Disgenet " 8591 PAK2 "Knobloch syndrome" MONDO_0800166 "Disgenet " 8591 PAK2 Schizophrenias MONDO_0005090 "Disgenet " 8592 PAK3 MRX30 MONDO_0010361 "Disgenet " 8592 PAK3 MRX1 MONDO_0010656 "Disgenet " 8592 PAK3 "X-linked syndromic intellectual disability" MONDO:0020119 "ClinGen " 8592 PAK3 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 8596 PAM "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 8599 PANX1 Depression MONDO_0002050 "Disgenet " 8602 PAPPA "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 8602 PAPPA "Acute Coronary Syndrome" MONDO_0005542 "Disgenet " 8602 PAPPA "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 8602 PAPPA "Coronary Disease" MONDO_0005010 "Disgenet " 8602 PAPPA "Angina, Unstable" MONDO_0006805 "Disgenet " 8602 PAPPA Endometrioses MONDO_0005133 "Disgenet " 8604 PAPSS2 "Spondyloepimetaphyseal Dysplasia, Pakistani Type" MONDO_0019666 "Disgenet " 8604 PAPSS2 Brachyolmia MONDO_0015262 "Disgenet " 8607 PRKN "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 8607 PRKN PD MONDO_0005180 "Disgenet " 8607 PRKN "Parkinson Disease" MONDO_0014796 "Disgenet " 8607 PRKN PARK2 MONDO_0021095 "Disgenet " 8607 PRKN Parkinsonism MONDO_0021095 "Disgenet " 8607 PRKN "Early onset Parkinson's disease" MONDO_0017279 "Disgenet " 8607 PRKN "Parkinson disease" MONDO:0005180 "ClinGen " 8607 PRKN Glioblastoma MONDO_0018177 "Disgenet " 8607 PRKN "Cancer, Lung" MONDO_0008903 "Disgenet " 8607 PRKN "Lung Neoplasm" MONDO_0002732 "Disgenet " 8607 PRKN "CARCINOMA OF LUNG" MONDO_0005138 "Disgenet " 8607 PRKN "JUVENILE PARKINSON DIS" MONDO_0000828 "Disgenet " 8607 PRKN "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 8607 PRKN "Childhood autism" MONDO_0005260 "Disgenet " 8607 PRKN "Cancer, Ovarian" MONDO_0008170 "Disgenet " 8607 PRKN "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 8607 PRKN Schizophrenias MONDO_0005090 "Disgenet " 8609 PARN DKCB6 MONDO_0014600 "Disgenet " 8609 PARN "Fibrosing alveolitis" MONDO_0800029 "Disgenet " 8609 PARN "HOYERAAL-HREIDARSSON SYNDROME" MONDO_0018045 "Disgenet " 8609 PARN "Telomere Syndrome" MONDO_0100137 "Disgenet " 8609 PARN "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 8609 PARN "Dyskeratosis Congenita" MONDO_0015780 "Disgenet " 8609 PARN "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4" MONDO:0014612 "ClinGen " 8614 PAWR Schizophrenias MONDO_0005090 "Disgenet " 8614 PAWR "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 8614 PAWR "Depressions, Unipolar" MONDO_0002050 "Disgenet " 8614 PAWR "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 8617 PAX3 "Bifida, Spina" MONDO_0019351 "Disgenet " 8617 PAX3 "Waardenburg syndrome" MONDO:0018094 "ClinGen " 8617 PAX3 "Childhood Alveolar Rhabdomyosarcoma" MONDO_0009994 "Disgenet " 8617 PAX3 "NEURAL TUBE DEFECTS, FOLATE-SENSITIVE" MONDO_0011120 "Disgenet " 8617 PAX3 "Abnormalities, Craniofacial" "Disgenet " 8617 PAX3 "Syndrome, Waardenburg's" MONDO_0018094 "Disgenet " 8617 PAX3 "Klein Waardenburg Syndrome" MONDO_0007862 "Disgenet " 8617 PAX3 WS1 MONDO_0008670 "Disgenet " 8617 PAX3 CDHS MONDO_0007395 "Disgenet " 8617 PAX3 "Alveolar rhabdomyosarcoma" MONDO_0009994 "Disgenet " 8617 PAX3 Hypoacusis MONDO_0005365 "Disgenet " 8620 PAX6 Anophthalmias "Disgenet " 8620 PAX6 "Optic nerve hypoplasia" MONDO_0008136 "Disgenet " 8620 PAX6 Schizophrenias MONDO_0005090 "Disgenet " 8620 PAX6 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 8620 PAX6 "Gillespie syndrome" MONDO_0008795 "Disgenet " 8620 PAX6 "Coloboma of iris" MONDO_0020356 "Disgenet " 8620 PAX6 ASMD MONDO_0019503 "Disgenet " 8620 PAX6 "Coloboma of iris" MONDO_0020356 "Disgenet " 8620 PAX6 "Abnormality, Tooth" "Disgenet " 8620 PAX6 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 8620 PAX6 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 8620 PAX6 "Coloboma of optic disc" MONDO_0007354 "Disgenet " 8620 PAX6 Nystagmus MONDO_0004843 "Disgenet " 8620 PAX6 "WAGR Syndrome" MONDO_0008681 "Disgenet " 8620 PAX6 "Congenital cataract" MONDO_0008925 "Disgenet " 8620 PAX6 "KERATITIS, HEREDITARY" MONDO_0007848 "Disgenet " 8620 PAX6 "Aniridia type 1" MONDO_0007119 "Disgenet " 8620 PAX6 "PAX6-related ocular dysgenesis" MONDO:0800183 "ClinGen " 8620 PAX6 Coloboma MONDO_0007350 "Disgenet " 8620 PAX6 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 8620 PAX6 "FOVEAL HYPOPLASIA 1" MONDO_0007628 "Disgenet " 8620 PAX6 "Glucose Intolerance" MONDO_0001076 "Disgenet " 8620 PAX6 "Congenital nystagmus" MONDO_0005712 "Disgenet " 8620 PAX6 "Childhood autism" MONDO_0005260 "Disgenet " 8620 PAX6 Aniridia MONDO_0007119 "Disgenet " 8620 PAX6 "Peters anomaly" MONDO_0011414 "Disgenet " 8620 PAX6 Microphthalmos MONDO_0021129 "Disgenet " 8622 PAX8 "Congenital hypothyroidism" MONDO_0010142 "Disgenet " 8622 PAX8 "Hypoplasia of thyroid" MONDO_0019861 "Disgenet " 8622 PAX8 "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2" MONDO_0024264 "Disgenet " 8622 PAX8 Hypothyroidism MONDO_0005420 "Disgenet " 8622 PAX8 "Follicular thyroid cancer" MONDO_0008566 "Disgenet " 8622 PAX8 "Congenital Thyroid Aplasia" MONDO_0019855 "Disgenet " 8622 PAX8 "Congenital hypothyroidism due to absence of thyroid gland" MONDO_0019855 "Disgenet " 8622 PAX8 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 8622 PAX8 "Well Differentiated Thyroid Carcinoma" MONDO_0015447 "Disgenet " 8622 PAX8 "Adenocarcinoma, Follicular" MONDO_0005034 "Disgenet " 8630 PEBP1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 8630 PEBP1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 8630 PEBP1 Carcinoma MONDO_0004993 "Disgenet " 8630 PEBP1 "Heart failure" MONDO_0005252 "Disgenet " 8630 PEBP1 "Congestive heart failure" MONDO_0005252 "Disgenet " 8632 PBX1 "congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay" MONDO:0060549 "ClinGen " 8632 PBX1 CAKUTHED MONDO_0060549 "Disgenet " 8632 PBX1 "Renal hypoplasia, bilateral" MONDO_0007352 "Disgenet " 8636 PC "PYRUVATE CARBOXYLASE DEFICIENCY" MONDO_0009949 "Disgenet " 8636 PC "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 8646 PCBD1 HPABH4D MONDO_0009908 "Disgenet " 8646 PCBD1 "pterin-4 alpha-carbinolamine dehydratase 1 deficiency" MONDO:0009908 "ClinGen " 865 ATP6V0A1 "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104" MONDO_0031021 "Disgenet " 8653 PCCA "propionic acidemia" MONDO:0011628 "ClinGen " 8653 PCCA "ketotic glycinemia" MONDO_0011628 "Disgenet " 8654 PCCB "ketotic glycinemia" MONDO_0011628 "Disgenet " 8654 PCCB "propionic acidemia" MONDO:0011628 "ClinGen " 8656 PCDH11X "Alzheimer Disease" MONDO_0012630 "Disgenet " 8657 PCDH12 "Diencephalic mesencephalic junction dysplasia (disorder)" MONDO_0017868 "Disgenet " 8657 PCDH12 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 8686 PCDHB15 "Cancer, Breast" MONDO_0007254 "Disgenet " 869 ATP7A "Ehlers Danlos Syndrome" MONDO_0020066 "Disgenet " 869 ATP7A "Cutis Laxa" MONDO_0007411 "Disgenet " 869 ATP7A "X-linked distal spinal muscular atrophy type 3" MONDO:0010338 "ClinGen " 869 ATP7A "Menkes disease" MONDO:0010651 "ClinGen " 869 ATP7A OHS MONDO_0010572 "Disgenet " 869 ATP7A "Menkes' syndrome" MONDO_0010651 "Disgenet " 869 ATP7A SMAX3 MONDO_0010338 "Disgenet " 87 ACAD8 "ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY" MONDO_0012648 "Disgenet " 87 ACAD8 "isobutyryl-CoA dehydrogenase deficiency" MONDO:0012648 "ClinGen " 870 ATP7B "Degeneration, Progressive Lenticular" MONDO_0010200 "Disgenet " 870 ATP7B "Diseases, Liver" MONDO_0005154 "Disgenet " 870 ATP7B "Chronic hepatitis, unspecified" MONDO_0002251 "Disgenet " 870 ATP7B "Kayser-Fleischer ring" "Disgenet " 870 ATP7B "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 870 ATP7B Carcinoma MONDO_0004993 "Disgenet " 870 ATP7B "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 870 ATP7B "Liver Neoplasm" MONDO_0002691 "Disgenet " 870 ATP7B "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 870 ATP7B "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 870 ATP7B "Liver Failure, Acute" MONDO_0019542 "Disgenet " 870 ATP7B "Wilson disease" MONDO:0010200 "ClinGen " 8724 PCK1 Obesity MONDO_0019182 "Disgenet " 8724 PCK1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 8724 PCK1 "PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC" MONDO_0009866 "Disgenet " 8724 PCK1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 8724 PCK1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 8724 PCK1 "Deficiency of phosphoenolpyruvate carboxykinase" MONDO_0017320 "Disgenet " 8727 PCM1 Schizophrenias MONDO_0005090 "Disgenet " 8728 PCMT1 "Bifida, Spina" MONDO_0019351 "Disgenet " 8729 PCNA "Brain Neoplasms" MONDO_0021211 "Disgenet " 8729 PCNA ATLD2 MONDO_0014399 "Disgenet " 8729 PCNA "ATAXIA-TELANGIECTASIA-LIKE DISORDER" MONDO_0011457 "Disgenet " 8729 PCNA "hereditary ataxia" MONDO:0100309 "ClinGen " 8729 PCNA Hepatoblastoma MONDO_0018666 "Disgenet " 8729 PCNA Psoriases MONDO_0005083 "Disgenet " 8729 PCNA "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 8729 PCNA Adenocarcinoma MONDO_0004970 "Disgenet " 8729 PCNA "Lung Neoplasm" MONDO_0002732 "Disgenet " 8738 PCOLCE "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 8740 CHMP1A PCH8 MONDO_0013990 "Disgenet " 8744 PCSK2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 8747 PCSK5 "syndromic congenital heart disease" MONDO:0100614 "ClinGen " 8749 CDK16 Schizophrenias MONDO_0005090 "Disgenet " 8749 CDK16 "X-linked complex neurodevelopmental disorder" MONDO:0100148 "ClinGen " 8754 PCYT1A "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome" MONDO:0012160 "ClinGen " 8754 PCYT1A "SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY" MONDO_0012160 "Disgenet " 8756 PCYT2 "SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE" MONDO_0032906 "Disgenet " 8760 PDCD1 "GRAVES DISEASE" MONDO_0005364 "Disgenet " 8760 PDCD1 "autoimmune disease" MONDO:0007179 "ClinGen " 8760 PDCD1 "Glomerulonephritides, Lupus" MONDO_0005556 "Disgenet " 8760 PDCD1 "Hepatitis C" MONDO_0005231 "Disgenet " 8760 PDCD1 "Autoimmune Hepatitides" MONDO_0016264 "Disgenet " 8760 PDCD1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 8760 PDCD1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 8760 PDCD1 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 8760 PDCD1 Melanoma MONDO_0005105 "Disgenet " 8760 PDCD1 "Hepatitis B" MONDO_0005344 "Disgenet " 8760 PDCD1 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 8761 PDCD10 CAM MONDO_0000820 "Disgenet " 8761 PDCD10 "CEREBRAL CAVERNOUS MALFORMATIONS 3" MONDO_0011305 "Disgenet " 8761 PDCD10 CCM1 MONDO_0020724 "Disgenet " 8761 PDCD10 "Familial cerebral cavernous angioma" MONDO_0031037 "Disgenet " 8761 PDCD10 "Cavernous hemangioma" MONDO_0003155 "Disgenet " 8763 PDCD4 "Cancer, Breast" MONDO_0007254 "Disgenet " 8763 PDCD4 "Lung Neoplasm" MONDO_0002732 "Disgenet " 8765 PDCD6 "Cancer, Breast" MONDO_0007254 "Disgenet " 8768 AIFM1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 8768 AIFM1 "Auditory neuropathy spectrum disorder (disorder)" MONDO_0021944 "Disgenet " 8768 AIFM1 DFNX5 MONDO_0010378 "Disgenet " 8768 AIFM1 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 8768 AIFM1 CMTX4 MONDO_0010689 "Disgenet " 8768 AIFM1 "Leigh syndrome" MONDO:0009723 "ClinGen " 8768 AIFM1 "X-linked auditory neuropathy with peripheral sensory neuropathy type 1" MONDO_0010378 "Disgenet " 8768 AIFM1 COXPD6 MONDO_0010437 "Disgenet " 877 ALDH7A1 "pyridoxine-dependent epilepsy" MONDO:0009945 "ClinGen " 877 ALDH7A1 "EPILEPSY, PYRIDOXINE-DEPENDENT" MONDO_0009945 "Disgenet " 877 ALDH7A1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 8772 PDE10A "Unspecified nonorganic psychosis" "Disgenet " 8772 PDE10A "Bipolar Disorders" MONDO_0004985 "Disgenet " 8772 PDE10A Psychosis MONDO_0005485 "Disgenet " 8773 PDE11A "Depressions, Unipolar" MONDO_0002050 "Disgenet " 8773 PDE11A "Primary pigmented nodular adrenocortical disease" MONDO_0015999 "Disgenet " 8773 PDE11A CAR MONDO_0015285 "Disgenet " 8773 PDE11A "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 8776 PDE1C "DEAFNESS, AUTOSOMAL DOMINANT 74" MONDO_0029137 "Disgenet " 8777 PDE2A Chorea MONDO_0001595 "Disgenet " 8778 PDE3A "Cerebrovascular accident" MONDO_0005098 "Disgenet " 8778 PDE3A "Bilginturan syndrome" MONDO_0007211 "Disgenet " 8780 PDE4A "Bipolar Disorders" MONDO_0004985 "Disgenet " 8780 PDE4A Schizophrenias MONDO_0005090 "Disgenet " 8780 PDE4A "Depressive neurosis" MONDO_0002050 "Disgenet " 8780 PDE4A Depression MONDO_0002050 "Disgenet " 8781 PDE4B "Bipolar Disorders" MONDO_0004985 "Disgenet " 8781 PDE4B Asthma MONDO_0004979 "Disgenet " 8781 PDE4B Depression MONDO_0002050 "Disgenet " 8781 PDE4B "Depressive neurosis" MONDO_0002050 "Disgenet " 8781 PDE4B Alcoholism MONDO_0002046 "Disgenet " 8781 PDE4B Schizophrenias MONDO_0005090 "Disgenet " 8783 PDE4D "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 8783 PDE4D "Peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome" MONDO_0019797 "Disgenet " 8783 PDE4D Depression MONDO_0002050 "Disgenet " 8783 PDE4D Asthma MONDO_0004979 "Disgenet " 8783 PDE4D "Depressive neurosis" MONDO_0002050 "Disgenet " 8783 PDE4D "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 8783 PDE4D Schizophrenias MONDO_0005090 "Disgenet " 8785 PDE6A "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 8785 PDE6A "PDE6A-related retinopathy" MONDO:0700224 "ClinGen " 8785 PDE6A RP43 MONDO_0013437 "Disgenet " 8785 PDE6A "Autosomal recessive retinitis pigmentosa" "Disgenet " 8786 PDE6B "inherited retinal dystrophy" MONDO:0019118 "ClinGen " 8786 PDE6B "RETINITIS PIGMENTOSA 1" MONDO_0019200 "Disgenet " 8786 PDE6B "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 8786 PDE6B "CSNB - Congenital stationary night blindness" MONDO_0016293 "Disgenet " 8786 PDE6B "Autosomal recessive retinitis pigmentosa" "Disgenet " 8786 PDE6B "Leber congenital amaurosis" MONDO_0018998 "Disgenet " 8786 PDE6B "rod cone dystrophy" MONDO_0015993 "Disgenet " 8786 PDE6B "Retinal dystrophy" MONDO_0019118 "Disgenet " 8786 PDE6B "NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2" MONDO_0008099 "Disgenet " 8786 PDE6B "RETINITIS PIGMENTOSA 40" MONDO_0013429 "Disgenet " 8787 PDE6C "PDE6C-related retinopathy" MONDO:1040028 "ClinGen " 8787 PDE6C "Retinal dystrophy" MONDO_0019118 "Disgenet " 8787 PDE6C achromatopsia MONDO_0018852 "Disgenet " 8787 PDE6C "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 8787 PDE6C "progressive cone dystrophy" MONDO_0000455 "Disgenet " 8787 PDE6C "dystrophy cone" MONDO_0000455 "Disgenet " 8788 PDE6D CPD4 MONDO_0018772 "Disgenet " 8792 PDE7B Schizophrenias MONDO_0005090 "Disgenet " 8794 PDE8B "Primary pigmented nodular adrenocortical disease" MONDO_0015999 "Disgenet " 8794 PDE8B "Striatal Degeneration, Autosomal Dominant" MONDO_0000211 "Disgenet " 8799 PDGFA "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 8799 PDGFA "Breast Neoplasms" MONDO_0021100 "Disgenet " 8799 PDGFA Mesothelioma MONDO_0005065 "Disgenet " 8799 PDGFA Gliomas MONDO_0021042 "Disgenet " 88 ACADL LCAD MONDO_0008723 "Disgenet " 88 ACADL "ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF" MONDO_0008723 "Disgenet " 88 ACADL "long chain acyl-CoA dehydrogenase deficiency" MONDO:0020531 "ClinGen " 8800 PDGFB DFSP MONDO_0011934 "Disgenet " 8800 PDGFB "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 8800 PDGFB "Glioma, malignant" MONDO_0100342 "Disgenet " 8800 PDGFB Glioblastoma MONDO_0018177 "Disgenet " 8800 PDGFB BSPDC MONDO_0008947 "Disgenet " 8800 PDGFB Gliomas MONDO_0021042 "Disgenet " 8800 PDGFB Meningiomas MONDO_0016642 "Disgenet " 8800 PDGFB "Idiopathic thrombocythemia" MONDO_0005029 "Disgenet " 8800 PDGFB "Dermatofibroma protuberans" MONDO_0011934 "Disgenet " 8800 PDGFB "Liver cell carcinoma" MONDO_0007256 "Disgenet " 8800 PDGFB Retinopathy MONDO_0005283 "Disgenet " 8800 PDGFB hypernephroma MONDO_0005086 "Disgenet " 8800 PDGFB Dermatofibrosarcoma MONDO_0011934 "Disgenet " 8801 PDGFC Mesothelioma MONDO_0005065 "Disgenet " 8803 PDGFRA Eosinophilia MONDO_0015691 "Disgenet " 8803 PDGFRA GIST MONDO_0011719 "Disgenet " 8803 PDGFRA "gastrointestinal stromal tumor" MONDO:0011719 "ClinGen " 8803 PDGFRA "congenital heart disease" MONDO:0005453 "ClinGen " 8803 PDGFRA "Cleft palate with cleft lip" MONDO_0016044 "Disgenet " 8803 PDGFRA "Cancer, Ovarian" MONDO_0008170 "Disgenet " 8803 PDGFRA Melanoma MONDO_0005105 "Disgenet " 8803 PDGFRA "Hypereosinophilic Syndromes, Idiopathic" MONDO_0011895 "Disgenet " 8803 PDGFRA "Neuroectodermal Tumor, Primitive" MONDO_0005462 "Disgenet " 8803 PDGFRA Medulloblastoma MONDO_0007959 "Disgenet " 8803 PDGFRA Leukemias MONDO_0005059 "Disgenet " 8803 PDGFRA "Bifida, Spina" MONDO_0019351 "Disgenet " 8803 PDGFRA "Cleft Palate" MONDO_0016064 "Disgenet " 8803 PDGFRA "Glioblastoma multiforme" MONDO_0018177 "Disgenet " 8803 PDGFRA "Chronic Eosinophilic Leukemia, Not Otherwise Specified" MONDO_0015687 "Disgenet " 8804 PDGFRB Schizophrenias MONDO_0005090 "Disgenet " 8804 PDGFRB "Fahr's syndrome (diagnosis)" MONDO_0008947 "Disgenet " 8804 PDGFRB IMF1 MONDO_0016824 "Disgenet " 8804 PDGFRB "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 8804 PDGFRB "PREMATURE AGING SYNDROME, PENTTINEN TYPE" MONDO_0011150 "Disgenet " 8804 PDGFRB Glioblastoma MONDO_0018177 "Disgenet " 8804 PDGFRB "Chronic myeloproliferative disease" MONDO_0020076 "Disgenet " 8804 PDGFRB "Infantile myofibromatosis" MONDO_0009227 "Disgenet " 8804 PDGFRB "KOSAKI OVERGROWTH SYNDROME" MONDO_0014704 "Disgenet " 8804 PDGFRB BSPDC MONDO_0008947 "Disgenet " 8804 PDGFRB "Renal cell carcinoma" MONDO_0005549 "Disgenet " 8806 PDHA1 "Acidosis, Lactic" MONDO_0006040 "Disgenet " 8806 PDHA1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 8806 PDHA1 "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 8806 PDHA1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 8806 PDHA1 "LACTIC ACIDEMIA, THIAMINE-RESPONSIVE" MONDO_0010717 "Disgenet " 8806 PDHA1 "Leigh syndrome" MONDO:0009723 "ClinGen " 8806 PDHA1 "PDHC DEFIC DIS" MONDO_0019169 "Disgenet " 8808 PDHB "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 8808 PDHB "PDHC DEFIC DIS" MONDO_0019169 "Disgenet " 8808 PDHB PDHBD MONDO_0013580 "Disgenet " 8808 PDHB "Leigh syndrome" MONDO:0009723 "ClinGen " 8811 PDK3 "Charcot-Marie-Tooth disease X-linked dominant 6" MONDO:0010479 "ClinGen " 8811 PDK3 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 8811 PDK3 CMTX6 MONDO_0010479 "Disgenet " 8812 PDK4 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 8812 PDK4 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 8816 PDPK1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 8816 PDPK1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 8816 PDPK1 "Congestive heart failure" MONDO_0005252 "Disgenet " 8816 PDPK1 "Heart failure" MONDO_0005252 "Disgenet " 8816 PDPK1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 8816 PDPK1 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 8818 SLC26A4 "DEAFNESS, AUTOSOMAL RECESSIVE" MONDO_0019588 "Disgenet " 8818 SLC26A4 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 8818 SLC26A4 "PENDRED SYNDROME" MONDO_0010134 "Disgenet " 8818 SLC26A4 "Sensorineural hearing loss, bilateral" MONDO_0013269 "Disgenet " 8818 SLC26A4 "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 8818 SLC26A4 Hypoacusis MONDO_0005365 "Disgenet " 8818 SLC26A4 NSRD4 MONDO_0010933 "Disgenet " 8818 SLC26A4 Goiter MONDO_0005397 "Disgenet " 8818 SLC26A4 "Pendred syndrome" MONDO:0010134 "ClinGen " 8818 SLC26A4 "Congenital malformation of ear, unspecified" MONDO_0007500 "Disgenet " 882 ATR "Seckel syndrome" MONDO_0019342 "Disgenet " 882 ATR "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 882 ATR "SECKEL SYNDROME 1" MONDO_0019342 "Disgenet " 882 ATR "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 882 ATR "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 882 ATR "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 8821 PDZK1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 8821 PDZK1 Schizophrenias MONDO_0005090 "Disgenet " 8823 PECAM1 "Coronary Stenosis" MONDO_0006715 "Disgenet " 8823 PECAM1 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 8823 PECAM1 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 8823 PECAM1 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 8823 PECAM1 "Coronary Disease" MONDO_0005010 "Disgenet " 8824 SERPINF1 "Hyperstimulation Syndrome, Ovarian" MONDO_0011972 "Disgenet " 8824 SERPINF1 Uveitides MONDO_0020283 "Disgenet " 8824 SERPINF1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 8824 SERPINF1 Endometrioses MONDO_0005133 "Disgenet " 8824 SERPINF1 "Angiopathies, Diabetic" MONDO_0000960 "Disgenet " 8824 SERPINF1 "Osteogenesis Imperfecta" MONDO_0012591 "Disgenet " 8824 SERPINF1 "Osteogenesis imperfecta, type 6" MONDO_0013515 "Disgenet " 8824 SERPINF1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 8824 SERPINF1 "Diabetic Retinopathies" MONDO_0005266 "Disgenet " 8824 SERPINF1 Obesity MONDO_0019182 "Disgenet " 8824 SERPINF1 "Proliferative diabetic retinopathy" MONDO_0001660 "Disgenet " 8824 SERPINF1 "Corneal Neovascularization" MONDO_0006713 "Disgenet " 8824 SERPINF1 Retinoblastoma MONDO_0008380 "Disgenet " 8824 SERPINF1 "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 8824 SERPINF1 "Macular oedema" MONDO_0003005 "Disgenet " 8824 SERPINF1 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 8830 PEMT "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 8830 PEMT "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 8830 PEMT Schizophrenias MONDO_0005090 "Disgenet " 8840 PEPD "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 8840 PEPD "prolidase deficiency" MONDO:0008221 "ClinGen " 8840 PEPD "Deficiency of prolidase" MONDO_0008221 "Disgenet " 8845 PER1 "Cancer, Breast" MONDO_0007254 "Disgenet " 8845 PER1 CRC MONDO_0005335 "Disgenet " 8846 PER2 "Cocaine dependence" MONDO_0005186 "Disgenet " 8846 PER2 "Cancer, Breast" MONDO_0007254 "Disgenet " 8846 PER2 Depression MONDO_0002050 "Disgenet " 8846 PER2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 8846 PER2 "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 8846 PER2 "Depression, Post-Natal" MONDO_0005929 "Disgenet " 8846 PER2 "Depressive neurosis" MONDO_0002050 "Disgenet " 8846 PER2 Fasps MONDO_0015609 "Disgenet " 8846 PER2 FASPS1 MONDO_0011442 "Disgenet " 8847 PER3 Depression MONDO_0002050 "Disgenet " 8847 PER3 "Affective Disorder, Seasonal" MONDO_0000694 "Disgenet " 8847 PER3 "Breast Neoplasms" MONDO_0021100 "Disgenet " 8847 PER3 "Bipolar Disorders" MONDO_0004985 "Disgenet " 8847 PER3 "Depressive neurosis" MONDO_0002050 "Disgenet " 8849 GATB COXPD41 MONDO_0030007 "Disgenet " 8850 PEX1 "peroxisome biogenesis disorder" MONDO:0019234 "ClinGen " 8850 PEX1 "Adrenoleukodystrophies, Neonatal" MONDO_0019053 "Disgenet " 8850 PEX1 "Retinal dystrophy" MONDO_0019118 "Disgenet " 8850 PEX1 "Infantile Refsums Disease" MONDO_0011101 "Disgenet " 8850 PEX1 PBD1A MONDO_0019234 "Disgenet " 8850 PEX1 PBD1C "Disgenet " 8850 PEX1 "Peroxisomal Disorder" MONDO_0019053 "Disgenet " 8850 PEX1 "Deafness enamel hypoplasia nail defects" "Disgenet " 8850 PEX1 "Zellweger Syndrome" MONDO_0019609 "Disgenet " 8850 PEX1 "Disorders of peroxisome biogenesis" MONDO_0019234 "Disgenet " 8851 PEX10 "peroxisome biogenesis disorder" MONDO:0019234 "ClinGen " 8851 PEX10 "Adrenoleukodystrophies, Neonatal" MONDO_0019053 "Disgenet " 8851 PEX10 "Zellweger Syndrome" MONDO_0019609 "Disgenet " 8851 PEX10 "PEROXISOME BIOGENESIS DISORDER 6B" MONDO_0013937 "Disgenet " 8851 PEX10 "PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)" MONDO_0013936 "Disgenet " 8851 PEX10 "Peroxisomal Disorder" MONDO_0019053 "Disgenet " 8851 PEX10 "Disorders of peroxisome biogenesis" MONDO_0019234 "Disgenet " 8852 PEX11A "peroxisome biogenesis disorder" MONDO:0019234 "ClinGen " 8853 PEX11B "peroxisome biogenesis disorder" MONDO:0019234 "ClinGen " 8853 PEX11B "Disorders of peroxisome biogenesis" MONDO_0019234 "Disgenet " 8854 PEX12 "Disorders of peroxisome biogenesis" MONDO_0019234 "Disgenet " 8854 PEX12 "Infantile Refsums Disease" MONDO_0011101 "Disgenet " 8854 PEX12 "Zellweger Syndrome" MONDO_0019609 "Disgenet " 8854 PEX12 "peroxisome biogenesis disorder" MONDO:0019234 "ClinGen " 8854 PEX12 "PEROXISOME BIOGENESIS DISORDER 3B" MONDO_0009959 "Disgenet " 8854 PEX12 PBD3A MONDO_0013927 "Disgenet " 8855 PEX13 "peroxisome biogenesis disorder" MONDO:0019234 "ClinGen " 8855 PEX13 "Zellweger Syndrome" MONDO_0019609 "Disgenet " 8855 PEX13 "Disorders of peroxisome biogenesis" MONDO_0019234 "Disgenet " 8856 PEX14 "Disorders of peroxisome biogenesis" MONDO_0019234 "Disgenet " 8856 PEX14 "peroxisome biogenesis disorder" MONDO:0019234 "ClinGen " 8857 PEX16 "peroxisome biogenesis disorder" MONDO:0019234 "ClinGen " 8857 PEX16 "Disorders of peroxisome biogenesis" MONDO_0019234 "Disgenet " 8857 PEX16 "Zellweger Syndrome" MONDO_0019609 "Disgenet " 8858 PEX3 "peroxisome biogenesis disorder" MONDO:0019234 "ClinGen " 8858 PEX3 "Zellweger Syndrome" MONDO_0019609 "Disgenet " 8858 PEX3 "Disorders of peroxisome biogenesis" MONDO_0019234 "Disgenet " 8858 PEX3 "PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)" MONDO_0013948 "Disgenet " 8859 PEX6 "PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)" MONDO_0013930 "Disgenet " 8859 PEX6 "Peroxisomal Disorder" MONDO_0019053 "Disgenet " 8859 PEX6 HMLR2 "Disgenet " 8859 PEX6 "peroxisome biogenesis disorder" MONDO:0019234 "ClinGen " 8859 PEX6 "Disorders of peroxisome biogenesis" MONDO_0019234 "Disgenet " 8859 PEX6 "Infantile Refsums Disease" MONDO_0011101 "Disgenet " 8859 PEX6 "Zellweger Syndrome" MONDO_0019609 "Disgenet " 8859 PEX6 "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 8859 PEX6 "Deafness enamel hypoplasia nail defects" "Disgenet " 886 ATRX "Severe mental retardation" MONDO_0010402 "Disgenet " 886 ATRX SFM1 MONDO_0010663 "Disgenet " 886 ATRX ATRX MONDO_0010519 "Disgenet " 886 ATRX "ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME" MONDO_0010328 "Disgenet " 886 ATRX "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 886 ATRX "Glioma, malignant" MONDO_0100342 "Disgenet " 886 ATRX Gliomas MONDO_0021042 "Disgenet " 886 ATRX alpha-Thalassemia MONDO_0011399 "Disgenet " 886 ATRX "ATR-X-related syndrome" MONDO:0016980 "ClinGen " 886 ATRX Neuroblastoma MONDO_0005072 "Disgenet " 886 ATRX Oligodendroglioma MONDO_0016695 "Disgenet " 886 ATRX "Anaplastic astrocytoma" MONDO_0019781 "Disgenet " 886 ATRX "Neuroendocrine Tumors" MONDO_0019496 "Disgenet " 886 ATRX "Osteosarcoma of Bone" MONDO_0002629 "Disgenet " 8860 PEX7 RCDP1 MONDO_0015776 "Disgenet " 8860 PEX7 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 8860 PEX7 "Disorders of peroxisome biogenesis" MONDO_0019234 "Disgenet " 8860 PEX7 "Refsum Disease, Adult, 2" MONDO_0013945 "Disgenet " 8860 PEX7 "peroxisome biogenesis disorder" MONDO:0019234 "ClinGen " 8860 PEX7 "Refsum Disease" MONDO_0009958 "Disgenet " 8860 PEX7 "Peroxisomal Disorder" MONDO_0019053 "Disgenet " 8860 PEX7 "Chondrodysplasia Punctata, Rhizomelic" MONDO_0015776 "Disgenet " 8864 CFP PFD MONDO_0010713 "Disgenet " 8864 CFP "properdin deficiency disease (diagnosis)" MONDO_0010713 "Disgenet " 8875 PFKFB4 "Cancer, Breast" MONDO_0007254 "Disgenet " 8876 PFKL "Bipolar Disorders" MONDO_0004985 "Disgenet " 8877 PFKM "Diseases, Glycogen Storage" MONDO_0010362 "Disgenet " 8877 PFKM "Deficiencies, Muscle Phosphofructokinase" MONDO_0009295 "Disgenet " 888 KIF1A SPG30 MONDO_0012476 "Disgenet " 888 KIF1A "Diabetes Mellitus" MONDO_0005015 "Disgenet " 888 KIF1A "Hereditary Sensory and Autonomic Neuropathies" MONDO_0015364 "Disgenet " 888 KIF1A "Global developmental delay" "Disgenet " 888 KIF1A "Hereditary Sensory Autonomic Neuropathy, Type 2" MONDO_0019941 "Disgenet " 888 KIF1A "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 888 KIF1A "Paraplegias, Spastic" MONDO_0003757 "Disgenet " 888 KIF1A "PEHO SYNDROME" MONDO_0009841 "Disgenet " 888 KIF1A "syndromic intellectual disability" MONDO:0000508 "ClinGen " 888 KIF1A "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 888 KIF1A "Mental Retardation, Autosomal Dominant 9" MONDO_0013656 "Disgenet " 8881 PFN1 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 8881 PFN1 "amyotrophic lateral sclerosis type 18" MONDO:0013891 "ClinGen " 8881 PFN1 ALS18 MONDO_0013891 "Disgenet " 8883 CDK14 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 8888 PGAM1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 8891 PGD "Liver cell carcinoma" MONDO_0007256 "Disgenet " 8893 PGF Glioblastoma MONDO_0018177 "Disgenet " 8893 PGF "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 8893 PGF Asthma MONDO_0004979 "Disgenet " 8896 PGK1 "PHOSPHOGLYCERATE KINASE 1 DEFICIENCY" MONDO_0010392 "Disgenet " 8896 PGK1 "Menkes' syndrome" MONDO_0010651 "Disgenet " 8896 PGK1 "Anemia, Hemolytic" MONDO_0003664 "Disgenet " 8896 PGK1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 89 ACADM "Deficiency of medium-chain acyl-CoA dehydrogenase" MONDO_0008721 "Disgenet " 89 ACADM "medium chain acyl-CoA dehydrogenase deficiency" MONDO:0008721 "ClinGen " 890 AUH "3-methylglutaconic aciduria type 1" MONDO:0009610 "ClinGen " 890 AUH MGA1 MONDO_0009610 "Disgenet " 8905 PGM1 GSD14 MONDO_0013968 "Disgenet " 8905 PGM1 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 8905 PGM1 "PGM1-congenital disorder of glycosylation" MONDO:0013968 "ClinGen " 8907 PGM3 "Hyper IgE Syndrome" MONDO_0018037 "Disgenet " 8907 PGM3 "Combined Immunodeficiencies, Severe" MONDO_0015974 "Disgenet " 8907 PGM3 "IMMUNODEFICIENCY 23" MONDO_0014353 "Disgenet " 8909 PGP "Bipolar Disorders" MONDO_0004985 "Disgenet " 8910 PGR Obesity MONDO_0019182 "Disgenet " 8910 PGR Epithelioma MONDO_0004993 "Disgenet " 8910 PGR Carcinoma MONDO_0004993 "Disgenet " 8910 PGR "PROGESTERONE RESISTANCE" MONDO_0009909 "Disgenet " 8910 PGR Meningiomas MONDO_0016642 "Disgenet " 8910 PGR Adenocarcinoma MONDO_0004970 "Disgenet " 8910 PGR Endometrioses MONDO_0005133 "Disgenet " 8910 PGR "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 8910 PGR "Breast Neoplasms" MONDO_0021100 "Disgenet " 8912 PHB1 Schizophrenias MONDO_0005090 "Disgenet " 8912 PHB1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 8912 PHB1 "Cancer, Breast" MONDO_0007254 "Disgenet " 8912 PHB1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 8912 PHB1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 8912 PHB1 Carcinoma MONDO_0004993 "Disgenet " 8912 PHB1 "Sporadic Breast Cancer" MONDO_0004438 "Disgenet " 8921 PHF3 Alcoholism MONDO_0002046 "Disgenet " 8923 PHGDH "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 8923 PHGDH "Liver Neoplasm" MONDO_0002691 "Disgenet " 8923 PHGDH "Neurometabolic disorder due to serine deficiency" MONDO_0018162 "Disgenet " 8923 PHGDH "neurometabolic disorder due to serine deficiency" MONDO:0018162 "ClinGen " 8923 PHGDH "NEU-LAXOVA SYNDROME 1" MONDO_0009736 "Disgenet " 8923 PHGDH "Breast Neoplasms" MONDO_0021100 "Disgenet " 8923 PHGDH Melanoma MONDO_0005105 "Disgenet " 8923 PHGDH "PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY" MONDO_0011152 "Disgenet " 8925 PHKA1 "Glycogen storage disease, type IX" "Disgenet " 8925 PHKA1 GSD9D MONDO_0010362 "Disgenet " 8925 PHKA1 "Diseases, Glycogen Storage" MONDO_0010362 "Disgenet " 8925 PHKA1 "glycogen storage disease IXd" MONDO:0010362 "ClinGen " 8926 PHKA2 "GSD type IXA" "Disgenet " 8926 PHKA2 "Diseases, Glycogen Storage" MONDO_0010362 "Disgenet " 8926 PHKA2 "Glycogen storage disease, type IX" "Disgenet " 8926 PHKA2 "GSD8, FORMERLY" MONDO_0010598 "Disgenet " 8927 PHKB GSD9B MONDO_0009868 "Disgenet " 8927 PHKB "glycogen storage disease IXb" MONDO:0009868 "ClinGen " 8927 PHKB "Glycogen storage disease, type IX" "Disgenet " 8931 PHKG2 "Diseases, Glycogen Storage" MONDO_0010362 "Disgenet " 8931 PHKG2 "glycogen storage disease IXc" MONDO:0013091 "ClinGen " 8931 PHKG2 "Glycogen storage disease, type IX" "Disgenet " 8931 PHKG2 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 8931 PHKG2 GSD9C MONDO_0013091 "Disgenet " 8933 PHLDA1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 894 AVP "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 894 AVP "Hereditary CDI" MONDO_0007450 "Disgenet " 894 AVP Amnesia MONDO_0001152 "Disgenet " 894 AVP "Cocaine dependence" MONDO_0005186 "Disgenet " 894 AVP "Congestive heart failure" MONDO_0005252 "Disgenet " 894 AVP Dehydration "Disgenet " 894 AVP "High blood pressure" MONDO_0005044 "Disgenet " 894 AVP "Hypertension, Portal" MONDO_0005080 "Disgenet " 894 AVP "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 894 AVP "Bipolar Disorders" MONDO_0004985 "Disgenet " 894 AVP "Acute kidney injury" MONDO_0002492 "Disgenet " 894 AVP "Childhood autism" MONDO_0005260 "Disgenet " 894 AVP "Familial central diabetes insipidus" MONDO_0007450 "Disgenet " 894 AVP "Depressed mood" "Disgenet " 894 AVP "Diabetes Insipidus" MONDO_0004782 "Disgenet " 894 AVP "Central diabetes insipidus" MONDO_0015790 "Disgenet " 894 AVP "Sodium, decreased level" "Disgenet " 894 AVP "Depressions, Unipolar" MONDO_0002050 "Disgenet " 894 AVP "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 894 AVP "Heart failure" MONDO_0005252 "Disgenet " 894 AVP Schizophrenias MONDO_0005090 "Disgenet " 894 AVP "ADH Syndrome, Inappropriate" MONDO_0006802 "Disgenet " 8940 PHYH "phytanoyl-CoA hydroxylase deficiency" MONDO:0100258 "ClinGen " 8940 PHYH "Refsum Disease" MONDO_0009958 "Disgenet " 8941 SERPINA1 "Diseases, Liver" MONDO_0005154 "Disgenet " 8941 SERPINA1 "Deficiencies, alpha 1-Antitrypsin" MONDO_0013282 "Disgenet " 8941 SERPINA1 COPD MONDO_0005002 "Disgenet " 8941 SERPINA1 "Diseases, Lung" MONDO_0005275 "Disgenet " 8941 SERPINA1 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 8941 SERPINA1 "Cystic Fibrosis" MONDO_0009061 "Disgenet " 8941 SERPINA1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 8941 SERPINA1 Asbestoses MONDO_0016466 "Disgenet " 8941 SERPINA1 "Degenerative disease of nervous system, unspecified" MONDO_0005559 "Disgenet " 8941 SERPINA1 "Acute kidney injury" MONDO_0002492 "Disgenet " 8941 SERPINA1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 8941 SERPINA1 "Anxiety Disorder" MONDO_0005618 "Disgenet " 8941 SERPINA1 "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 8941 SERPINA1 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 8941 SERPINA1 Adenocarcinoma MONDO_0004970 "Disgenet " 8941 SERPINA1 "Nodular Nonsuppurative Panniculitides" MONDO_0018063 "Disgenet " 8941 SERPINA1 "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 8941 SERPINA1 Ileitis MONDO_0005534 "Disgenet " 8941 SERPINA1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 8941 SERPINA1 "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 8941 SERPINA1 "Affective Disorders" MONDO_0005371 "Disgenet " 8941 SERPINA1 Bronchiectases MONDO_0004822 "Disgenet " 8941 SERPINA1 "Bile Duct Obstructions" MONDO_0001751 "Disgenet " 8941 SERPINA1 "HIV infection" MONDO_0005109 "Disgenet " 8941 SERPINA1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 8941 SERPINA1 Angiitides MONDO_0018882 "Disgenet " 8941 SERPINA1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 8943 SERPINI1 "Epilepsies, Progressive Myoclonic" MONDO_0020074 "Disgenet " 8943 SERPINI1 FENIB MONDO_0011412 "Disgenet " 8943 SERPINI1 Schizophrenias MONDO_0005090 "Disgenet " 8943 SERPINI1 "progressive myoclonus epilepsy" MONDO:0020074 "ClinGen " 895 AVPR1A "autism spectrum disorder" MONDO:0005258 "ClinGen " 895 AVPR1A "Childhood autism" MONDO_0005260 "Disgenet " 895 AVPR1A "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 895 AVPR1A Schizophrenias MONDO_0005090 "Disgenet " 895 AVPR1A "High blood pressure" MONDO_0005044 "Disgenet " 8950 SERPINB6 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 8951 SERPINE2 "Alzheimer Disease" MONDO_0012630 "Disgenet " 8951 SERPINE2 "Cancer, Breast" MONDO_0007254 "Disgenet " 8952 SERPINB8 Psoriases MONDO_0005083 "Disgenet " 8957 PIGA "Ferro-cerebro-cutaneous syndrome (disorder)" MONDO_0018346 "Disgenet " 8957 PIGA "Marchiafava Micheli Syndrome" MONDO_0100244 "Disgenet " 8957 PIGA "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 8957 PIGA "epileptic encephalopathy" "Disgenet " 8957 PIGA "Hemoglobinuria, Paroxysmal" MONDO_0100244 "Disgenet " 8957 PIGA "Infantile spasms" MONDO_0018097 "Disgenet " 8957 PIGA "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 8957 PIGA "MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2" MONDO_0010466 "Disgenet " 8959 PIGB GPIBD20 MONDO_0032822 "Disgenet " 8959 PIGB "developmental and epileptic encephalopathy, 80" MONDO:0032822 "ClinGen " 8960 PIGC "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16" MONDO_0040500 "Disgenet " 8960 PIGC "glycosylphosphatidylinositol biosynthesis defect 16" MONDO:0040500 "ClinGen " 8962 PIGF "onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome" MONDO:0859161 "ClinGen " 8966 PIGL "syndromic intellectual disability" MONDO:0000508 "ClinGen " 8966 PIGL "CHIME syndrome" MONDO_0010221 "Disgenet " 8966 PIGL "Hyperphosphatasia with Mental Retardation" MONDO_0016596 "Disgenet " 8967 PIGN "MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1" MONDO_0100247 "Disgenet " 8967 PIGN "PIGN-CDG - phosphatidylinositol glycan anchor biosynthesis class N congenital disorder of glycosylation" MONDO_0013563 "Disgenet " 8967 PIGN "multiple congenital anomalies-hypotonia-seizures syndrome 1" MONDO:0013563 "ClinGen " 8967 PIGN "FRYNS SYNDROME" MONDO_0009253 "Disgenet " 8971 PIK3C2A "OCULOSKELETODENTAL SYNDROME" MONDO_0034145 "Disgenet " 8973 PIK3C2G "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 8974 PIK3C3 Schizophrenias MONDO_0005090 "Disgenet " 8974 PIK3C3 "Bipolar Disorders" MONDO_0004985 "Disgenet " 8975 PIK3CA "adenocarcinoma of breast (diagnosis)" MONDO_0004988 "Disgenet " 8975 PIK3CA RGNT MONDO_0016736 "Disgenet " 8975 PIK3CA "Extra Mammary Paget Disease" MONDO_0008177 "Disgenet " 8975 PIK3CA "Uterine Carcinosarcoma" MONDO_0006485 "Disgenet " 8975 PIK3CA "Nasopharyngeal Neoplasm" MONDO_0005375 "Disgenet " 8975 PIK3CA "Polycystic kidney" MONDO_0020642 "Disgenet " 8975 PIK3CA "Lynch Syndrome" MONDO_0005835 "Disgenet " 8975 PIK3CA "Neoplasm, Penile" MONDO_0006895 "Disgenet " 8975 PIK3CA "serous cystadenocarcinoma of ovary (diagnosis)" MONDO_0006046 "Disgenet " 8975 PIK3CA "CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH" MONDO_0013125 "Disgenet " 8975 PIK3CA "HEMIFACIAL MYOHYPERPLASIA" MONDO_0011723 "Disgenet " 8975 PIK3CA CWS5 MONDO_0014047 "Disgenet " 8975 PIK3CA "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 8975 PIK3CA "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 8975 PIK3CA "Cancer, Ovarian" MONDO_0008170 "Disgenet " 8975 PIK3CA "Liver cell carcinoma" MONDO_0007256 "Disgenet " 8975 PIK3CA "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 8975 PIK3CA "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 8975 PIK3CA "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 8975 PIK3CA "Cancer, Breast" MONDO_0007254 "Disgenet " 8975 PIK3CA "Breast Neoplasms" MONDO_0021100 "Disgenet " 8975 PIK3CA "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 8975 PIK3CA "Lung Neoplasm" MONDO_0002732 "Disgenet " 8975 PIK3CA "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 8975 PIK3CA "CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI" MONDO_0013038 "Disgenet " 8975 PIK3CA "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 8975 PIK3CA "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 8975 PIK3CA "Arteriovenous malformation" MONDO_0001256 "Disgenet " 8975 PIK3CA "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 8975 PIK3CA "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 8975 PIK3CA "Cowdens Disease" MONDO_0008021 "Disgenet " 8975 PIK3CA "Brain Neoplasms" MONDO_0021211 "Disgenet " 8975 PIK3CA "hereditary breast carcinoma" MONDO:0016419 "ClinGen " 8975 PIK3CA "familial ovarian cancer" MONDO:0016248 "ClinGen " 8975 PIK3CA "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes" MONDO:0100283 "ClinGen " 8975 PIK3CA "Adrenal cortical carcinoma" MONDO_0006639 "Disgenet " 8975 PIK3CA "Colonic adenocarcinoma" MONDO_0005401 "Disgenet " 8975 PIK3CA "Cerebrovascular accident" MONDO_0005098 "Disgenet " 8975 PIK3CA "Absent corpus callosum" MONDO_0009022 "Disgenet " 8975 PIK3CA "Cancer, Squamous Cell" MONDO_0002532 "Disgenet " 8975 PIK3CA "Malignant melanoma of skin" MONDO_0005012 "Disgenet " 8975 PIK3CA CMAL MONDO_0016231 "Disgenet " 8975 PIK3CA "Bladder transitional cell carcinoma" MONDO_0005611 "Disgenet " 8975 PIK3CA "Head and Neck Neoplasms" MONDO_0005586 "Disgenet " 8975 PIK3CA Adenocarcinoma MONDO_0004970 "Disgenet " 8975 PIK3CA hemimegalencephaly MONDO_0020492 "Disgenet " 8975 PIK3CA "Multiple Myeloma" MONDO_0009693 "Disgenet " 8975 PIK3CA CAM MONDO_0000820 "Disgenet " 8975 PIK3CA "Disease, Klippel-Trenaunay" MONDO_0008800 "Disgenet " 8975 PIK3CA "Mouth Neoplasm" MONDO_0021245 "Disgenet " 8975 PIK3CA "Neoplasm, Thyroid" MONDO_0015074 "Disgenet " 8975 PIK3CA "Renal cell carcinoma" MONDO_0005549 "Disgenet " 8975 PIK3CA Neuroblastoma MONDO_0005072 "Disgenet " 8975 PIK3CA "Megalencephaly cutis marmorata telangiectatica congenita" MONDO_0011240 "Disgenet " 8975 PIK3CA Meningiomas MONDO_0016642 "Disgenet " 8975 PIK3CA "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 8975 PIK3CA "CARCINOMA OF ESOPHAGUS" MONDO_0007576 "Disgenet " 8975 PIK3CA Medulloblastoma MONDO_0007959 "Disgenet " 8975 PIK3CA "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 8975 PIK3CA "carcinoma of gallbladder (diagnosis)" MONDO_0003220 "Disgenet " 8975 PIK3CA "lymphatic malformation" MONDO_0019313 "Disgenet " 8975 PIK3CA "Oral Cancer" MONDO_0023644 "Disgenet " 8975 PIK3CA "Malignant neoplasm of gallbladder" MONDO_0005411 "Disgenet " 8975 PIK3CA "Venous malformation" MONDO_0003083 "Disgenet " 8975 PIK3CA Schizophrenias MONDO_0005090 "Disgenet " 8975 PIK3CA "Adenoid cystic carcinoma" MONDO_0003175 "Disgenet " 8975 PIK3CA "adenocarcinoma of esophagus (diagnosis)" MONDO_0005028 "Disgenet " 8975 PIK3CA "Pancreatic adenocarcinoma" MONDO_0006047 "Disgenet " 8975 PIK3CA "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 8975 PIK3CA "Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome" "Disgenet " 8975 PIK3CA "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 8975 PIK3CA "CARCINOMA OF LUNG" MONDO_0005138 "Disgenet " 8975 PIK3CA "Cancer, Lung" MONDO_0008903 "Disgenet " 8975 PIK3CA "Neoplasm, Rectal" MONDO_0002165 "Disgenet " 8975 PIK3CA "Keratosis, Seborrheic" MONDO_0008420 "Disgenet " 8975 PIK3CA "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 8975 PIK3CA Glioblastoma MONDO_0018177 "Disgenet " 8975 PIK3CA "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 8975 PIK3CA Macrodactyly MONDO_0007962 "Disgenet " 8975 PIK3CA Melanoma MONDO_0005105 "Disgenet " 8975 PIK3CA CRC MONDO_0005335 "Disgenet " 8975 PIK3CA "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 8975 PIK3CA "Cervical Neoplasm" MONDO_0021230 "Disgenet " 8975 PIK3CA "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 8975 PIK3CA "Epidermal naevus" MONDO_0008093 "Disgenet " 8976 PIK3CB "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 8976 PIK3CB "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 8976 PIK3CB Glioblastoma MONDO_0018177 "Disgenet " 8976 PIK3CB "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 8977 PIK3CD "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 8977 PIK3CD "Centrocytic Small-Cell Lymphoma" MONDO_0018876 "Disgenet " 8977 PIK3CD "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 8977 PIK3CD "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 8977 PIK3CD "immunodeficiency 14b, autosomal recessive" MONDO:0023655 "ClinGen " 8977 PIK3CD "immunodeficiency 14" MONDO:0014222 "ClinGen " 8978 PIK3CG "immunodeficiency 97 with autoinflammation" MONDO:0030717 "ClinGen " 8978 PIK3CG "IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION" MONDO_0030717 "Disgenet " 8978 PIK3CG "Cystic Fibrosis" MONDO_0009061 "Disgenet " 8978 PIK3CG "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 8978 PIK3CG "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 8978 PIK3CG Medulloblastoma MONDO_0007959 "Disgenet " 8978 PIK3CG "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 8978 PIK3CG "Childhood autism" MONDO_0005260 "Disgenet " 8978 PIK3CG "Congestive heart failure" MONDO_0005252 "Disgenet " 8978 PIK3CG "Heart failure" MONDO_0005252 "Disgenet " 8979 PIK3R1 "agammaglobulinemia 7, autosomal recessive" MONDO:0014083 "ClinGen " 8979 PIK3R1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 8979 PIK3R1 Glioblastoma MONDO_0018177 "Disgenet " 8979 PIK3R1 Carcinoma MONDO_0004993 "Disgenet " 8979 PIK3R1 "Endometrial Endometrioid Carcinoma" MONDO_0006192 "Disgenet " 8979 PIK3R1 IMD36 MONDO_0014453 "Disgenet " 8979 PIK3R1 "SHORT SYNDROME" MONDO_0010026 "Disgenet " 8979 PIK3R1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 8979 PIK3R1 "Vascular anomaly" MONDO_0024291 "Disgenet " 8979 PIK3R1 Alcoholism MONDO_0002046 "Disgenet " 8979 PIK3R1 Endometrium MONDO_0011962 "Disgenet " 8979 PIK3R1 "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 8979 PIK3R1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 8979 PIK3R1 "Uterine adenocarcinoma" MONDO_0005461 "Disgenet " 8979 PIK3R1 "AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE" MONDO_0014083 "Disgenet " 8979 PIK3R1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 8979 PIK3R1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 8979 PIK3R1 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 8980 PIK3R2 "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes" MONDO:0100283 "ClinGen " 8980 PIK3R2 "Megalencephaly cutis marmorata telangiectatica congenita" MONDO_0011240 "Disgenet " 8983 PI4KA Schizophrenias MONDO_0005090 "Disgenet " 8983 PI4KA "SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE" MONDO_0030482 "Disgenet " 8986 PIM1 Glioblastoma MONDO_0018177 "Disgenet " 8986 PIM1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 8988 PIN1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 8996 PIP5K1C LCCS3 MONDO_0012656 "Disgenet " 8997 PIP4K2A "Bipolar Disorders" MONDO_0004985 "Disgenet " 8997 PIP4K2A Schizophrenias MONDO_0005090 "Disgenet " 8999 PISD "LIBERFARB SYNDROME" MONDO_0030045 "Disgenet " 8999 PISD "Liberfarb syndrome" MONDO:0030045 "ClinGen " 90 ACADS "short chain acyl-CoA dehydrogenase deficiency" MONDO:0008722 "ClinGen " 90 ACADS "ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF" MONDO_0012392 "Disgenet " 9008 PKD1 "Polycystic Kidney, Autosomal Dominant" MONDO_0004691 "Disgenet " 9008 PKD1 APKD1 MONDO_0008263 "Disgenet " 9008 PKD1 "Polycystic kidney" MONDO_0020642 "Disgenet " 9008 PKD1 "autosomal recessive polycystic kidney disease" MONDO:0009889 "ClinGen " 9008 PKD1 "autosomal dominant polycystic kidney disease" MONDO:0004691 "ClinGen " 9008 PKD1 ESRD MONDO_0004375 "Disgenet " 9008 PKD1 "High blood pressure" MONDO_0005044 "Disgenet " 9008 PKD1 "KIDNEY CYST" MONDO_0002473 "Disgenet " 9008 PKD1 "ADULT POLYCYSTIC KIDNEY DIS TYPE 2" MONDO_0004691 "Disgenet " 9008 PKD1 "Tuberous Sclerosis" MONDO_0001734 "Disgenet " 9008 PKD1 Cysts "Disgenet " 9008 PKD1 "POLYCYSTIC KIDNEY TYPE 1 AUTOSOMAL DOMINANT DIS" MONDO_0004691 "Disgenet " 9008 PKD1 PKDTS MONDO_0010856 "Disgenet " 9008 PKD1 "Chronic renal disease" MONDO_0005300 "Disgenet " 9008 PKD1 "Aneurysms, Intracranial" MONDO_0005291 "Disgenet " 9008 PKD1 "Hepatic cysts" "Disgenet " 9008 PKD1 "Multiple renal cysts" "Disgenet " 9008 PKD1 "Tuberous Sclerosis 2" MONDO_0013199 "Disgenet " 9008 PKD1 "Polycystic Kidney, Autosomal Recessive" MONDO_0009889 "Disgenet " 9009 PKD2 "Polycystic Kidney, Autosomal Recessive" MONDO_0009889 "Disgenet " 9009 PKD2 "Aneurysms, Intracranial" MONDO_0005291 "Disgenet " 9009 PKD2 APKD1 MONDO_0008263 "Disgenet " 9009 PKD2 "autosomal dominant polycystic kidney disease" MONDO:0004691 "ClinGen " 9009 PKD2 "Polycystic Kidney, Autosomal Dominant" MONDO_0004691 "Disgenet " 9009 PKD2 "Polycystic kidney" MONDO_0020642 "Disgenet " 9009 PKD2 "ADULT POLYCYSTIC KIDNEY DIS TYPE 2" MONDO_0004691 "Disgenet " 9009 PKD2 "Chronic renal disease" MONDO_0005300 "Disgenet " 9009 PKD2 "Polycystic liver disease" MONDO_0000447 "Disgenet " 9009 PKD2 "High blood pressure" MONDO_0005044 "Disgenet " 9016 PKHD1 "Periportal fibrosis" "Disgenet " 9016 PKHD1 "KIDNEY CYST" MONDO_0002473 "Disgenet " 9016 PKHD1 "autosomal recessive polycystic kidney disease" MONDO:0009889 "ClinGen " 9016 PKHD1 "Caroli Syndrome" MONDO_0010913 "Disgenet " 9016 PKHD1 "Polycystic Kidney, Autosomal Dominant" MONDO_0004691 "Disgenet " 9016 PKHD1 "Polycystic kidney" MONDO_0020642 "Disgenet " 9016 PKHD1 "Polycystic Kidney, Autosomal Recessive" MONDO_0009889 "Disgenet " 9016 PKHD1 CRC MONDO_0005335 "Disgenet " 9020 PKLR "pyruvate kinase deficiency of red cells" MONDO:0009950 "ClinGen " 9020 PKLR "Infection, Plasmodium" MONDO_0005136 "Disgenet " 9020 PKLR "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 9020 PKLR "Anemia, Hemolytic" MONDO_0003664 "Disgenet " 9020 PKLR "Anemia, Hemolytic, Congenital Nonspherocytic" MONDO_0006506 "Disgenet " 9020 PKLR "Gaucher Disease" MONDO_0018150 "Disgenet " 9020 PKLR "pyruvate kinase deficiency" MONDO_0009950 "Disgenet " 9021 PKM "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9021 PKM Carcinoma MONDO_0004993 "Disgenet " 9023 PKP1 "ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME" MONDO_0011472 "Disgenet " 9023 PKP1 "Ectodermal Dysplasias" MONDO_0019287 "Disgenet " 9024 PKP2 Cardiomyopathy MONDO_0004994 "Disgenet " 9024 PKP2 Arrhythmia MONDO_0007263 "Disgenet " 9024 PKP2 "Brugada syndrome 1" MONDO:0011001 "ClinGen " 9024 PKP2 "arrhythmogenic right ventricular cardiomyopathy" MONDO:0016587 "ClinGen " 9024 PKP2 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 9024 PKP2 "catecholaminergic polymorphic ventricular tachycardia" MONDO:0017990 "ClinGen " 9024 PKP2 ARVC9 MONDO_0012180 "Disgenet " 9024 PKP2 "Arrhythmogenic right ventricular dysplasia" MONDO_0016587 "Disgenet " 9024 PKP2 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 9024 PKP2 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 9024 PKP2 "Brugada Syndrome" MONDO_0015263 "Disgenet " 9024 PKP2 "Polymorphic catecholergic ventricular tachycardia" MONDO_0017990 "Disgenet " 9024 PKP2 "Long QT Syndrome" MONDO_0002442 "Disgenet " 903 AXIN1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9030 PLA2G1B "Bipolar Disorders" MONDO_0004985 "Disgenet " 9030 PLA2G1B "Affective Disorders" MONDO_0005371 "Disgenet " 9030 PLA2G1B Schizophrenias MONDO_0005090 "Disgenet " 9031 PLA2G2A Atherosclerosis MONDO_0005311 "Disgenet " 9031 PLA2G2A "Bipolar Disorders" MONDO_0004985 "Disgenet " 9031 PLA2G2A Endometrioses MONDO_0005133 "Disgenet " 9031 PLA2G2A "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 9031 PLA2G2A "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 9037 PLA2G4C Schizophrenias MONDO_0005090 "Disgenet " 9038 PLA2G5 "FLECK RETINA, FAMILIAL BENIGN" MONDO_0009235 "Disgenet " 9039 PLA2G6 "Dystrophy, Neuroaxonal" MONDO_0002283 "Disgenet " 9039 PLA2G6 Mole MONDO_0005073 "Disgenet " 9039 PLA2G6 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 9039 PLA2G6 "KARAK SYNDROME" "Disgenet " 9039 PLA2G6 "Disease, Seitelberger's" MONDO_0024457 "Disgenet " 9039 PLA2G6 PARK14 MONDO_0013060 "Disgenet " 9039 PLA2G6 Schizophrenias MONDO_0005090 "Disgenet " 9039 PLA2G6 Psychosis MONDO_0005485 "Disgenet " 9039 PLA2G6 "PLA2G6-associated neurodegeneration" MONDO:0017998 "ClinGen " 9039 PLA2G6 "Hallervorden Spatz Syndrome" MONDO_0024457 "Disgenet " 9039 PLA2G6 "Parkinson Disease" MONDO_0014796 "Disgenet " 9039 PLA2G6 "Neurodegeneration with brain iron accumulation (NBIA)" MONDO_0018307 "Disgenet " 9039 PLA2G6 NBIA2B MONDO_0012444 "Disgenet " 904 AXIN2 Oligodontia MONDO_0008797 "Disgenet " 904 AXIN2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 904 AXIN2 "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 904 AXIN2 CRC MONDO_0005335 "Disgenet " 904 AXIN2 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 904 AXIN2 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 904 AXIN2 "oligodontia-cancer predisposition syndrome" MONDO:0012075 "ClinGen " 904 AXIN2 "Cancer, Breast" MONDO_0007254 "Disgenet " 904 AXIN2 Craniosynostosis MONDO_0015469 "Disgenet " 904 AXIN2 "Orofacial cleft" MONDO_0000358 "Disgenet " 904 AXIN2 "OLIGODONTIA-COLORECTAL CANCER SYNDROME" MONDO_0012075 "Disgenet " 9040 PLA2G7 "Coronary Disease" MONDO_0005010 "Disgenet " 9040 PLA2G7 "Gassers Syndrome" MONDO_0001549 "Disgenet " 9040 PLA2G7 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 9040 PLA2G7 Atherosclerosis MONDO_0005311 "Disgenet " 9040 PLA2G7 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 9040 PLA2G7 "Cerebrovascular accident" MONDO_0005098 "Disgenet " 9040 PLA2G7 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 9040 PLA2G7 Asthma MONDO_0004979 "Disgenet " 9040 PLA2G7 "Aortic Aneurysm, Abdominal" MONDO_0005350 "Disgenet " 9042 PLA2R1 Nephropathy MONDO_0005240 "Disgenet " 9043 PLAA Schizophrenias MONDO_0005090 "Disgenet " 9043 PLAA "NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES" MONDO_0060502 "Disgenet " 9045 PLAG1 "Embryonic Lipoma" MONDO_0016611 "Disgenet " 9045 PLAG1 RSS MONDO_0008394 "Disgenet " 9045 PLAG1 "Pleomorphic adenoma" MONDO_0008401 "Disgenet " 9045 PLAG1 "SALIVARY GLAND ADENOMA, PLEOMORPHIC" MONDO_0008401 "Disgenet " 9046 PLAGL1 "Transitory neonatal diabetes mellitus" MONDO_0011073 "Disgenet " 9046 PLAGL1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 905 AXL IHH MONDO_0007794 "Disgenet " 905 AXL Neurilemmoma MONDO_0002546 "Disgenet " 905 AXL "Kidney Neoplasm" MONDO_0002367 "Disgenet " 905 AXL "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 905 AXL "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 905 AXL "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 905 AXL "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 9051 PLAT Thrombocytopenia MONDO_0002049 "Disgenet " 9051 PLAT "Venous Thromboembolism" MONDO_0005399 "Disgenet " 9051 PLAT "Heart failure" MONDO_0005252 "Disgenet " 9051 PLAT "Anti Phospholipid Syndrome" MONDO_8000010 "Disgenet " 9051 PLAT "Deep Vein Thrombosis" "Disgenet " 9051 PLAT "Cerebrovascular accident" MONDO_0005098 "Disgenet " 9051 PLAT "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 9051 PLAT "thrombophilia, familial, due to decreased release of tissue plasminogen activator" MONDO:0012872 "ClinGen " 9051 PLAT Atherosclerosis MONDO_0005311 "Disgenet " 9051 PLAT "Cerebral Infarction" MONDO_0002679 "Disgenet " 9051 PLAT "ISCHEMIC ENCEPH" MONDO_0005299 "Disgenet " 9051 PLAT "Congestive heart failure" MONDO_0005252 "Disgenet " 9051 PLAT Paresis "Disgenet " 9051 PLAT "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 9051 PLAT "Damage, Reperfusion" MONDO_0005203 "Disgenet " 9051 PLAT "High blood pressure" MONDO_0005044 "Disgenet " 9051 PLAT neurotoxicity MONDO_0005527 "Disgenet " 9051 PLAT Schizophrenias MONDO_0005090 "Disgenet " 9051 PLAT "Coronary Thromboses" MONDO_0005068 "Disgenet " 9052 PLAU "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 9052 PLAU "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 9052 PLAU Asthma MONDO_0004979 "Disgenet " 9052 PLAU Adenocarcinoma MONDO_0004970 "Disgenet " 9052 PLAU "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 9052 PLAU "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 9052 PLAU "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 9052 PLAU "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9052 PLAU "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 9052 PLAU "Cerebrovascular accident" MONDO_0005098 "Disgenet " 9052 PLAU "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 9052 PLAU "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 9052 PLAU "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 9052 PLAU "Quebec platelet disorder" MONDO:0011136 "ClinGen " 9052 PLAU Asthenozoospermia "Disgenet " 9052 PLAU "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 9052 PLAU "Fibrosing alveolitis" MONDO_0800029 "Disgenet " 9052 PLAU "Cerebral Infarction" MONDO_0002679 "Disgenet " 9052 PLAU "Alzheimer Disease" MONDO_0012630 "Disgenet " 9052 PLAU QPD MONDO_0011136 "Disgenet " 9053 PLAUR "Childhood autism" MONDO_0005260 "Disgenet " 9053 PLAUR "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 9053 PLAUR "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9053 PLAUR Carcinoma MONDO_0004993 "Disgenet " 9056 PLCB3 "SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY" MONDO_0030074 "Disgenet " 9059 PLCB4 "Auriculo-condylar syndrome" MONDO_0000107 "Disgenet " 9059 PLCB4 "auriculocondylar syndrome 2" MONDO:0013845 "ClinGen " 9059 PLCB4 "auriculocondylar syndrome 2" MONDO:0013845 "ClinGen " 9059 PLCB4 "MELANOMA, UVEAL" MONDO_0006486 "Disgenet " 9060 PLCD1 "LEUKONYCHIA STRIATUS" MONDO_0007900 "Disgenet " 9065 PLCG1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 9065 PLCG1 "human T cell leukemia" MONDO_0019471 "Disgenet " 9065 PLCG1 "Cutaneous T Cell Lymphoma" MONDO_0015758 "Disgenet " 9065 PLCG1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9065 PLCG1 Angiosarcomas MONDO_0016982 "Disgenet " 9066 PLCG2 FACU MONDO_0013766 "Disgenet " 9066 PLCG2 APLAID MONDO_0013944 "Disgenet " 9066 PLCG2 "Alzheimer Disease" MONDO_0012630 "Disgenet " 9066 PLCG2 "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 9067 PLD1 "CARDIAC VALVULAR DYSPLASIA 1" MONDO_0008913 "Disgenet " 9067 PLD1 "PLD1-related congenital heart disease" MONDO:1010144 "ClinGen " 9068 PLD2 "Cancer, Breast" MONDO_0007254 "Disgenet " 9069 PLEC Myopathy MONDO_0003939 "Disgenet " 9069 PLEC "Ebs With Pyloric Atresia" MONDO_0012807 "Disgenet " 9069 PLEC "Epidermolysis bullosa with pyloric atresia" MONDO_0009183 "Disgenet " 9069 PLEC LGMD2Q MONDO_0013390 "Disgenet " 9069 PLEC MDEBS MONDO_0009181 "Disgenet " 9069 PLEC "Epidermolysis bullosa simplex, Ogna type" MONDO_0007555 "Disgenet " 9069 PLEC "PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder" MONDO:1060109 "ClinGen " 9069 PLEC "Aplasia cutis congenita" MONDO_0019287 "Disgenet " 9069 PLEC "Epidermolysis Bullosa Simplex" MONDO_0007550 "Disgenet " 9069 PLEC "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 9075 SERPINF2 "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 9075 SERPINF2 "ALPHA-2-PLASMIN INHIBITOR DEFICIENCY" MONDO_0009883 "Disgenet " 9075 SERPINF2 "alpha-2-plasmin inhibitor deficiency" MONDO:0009883 "ClinGen " 9076 PLIN1 "Koberling Dunnigan Syndrome" MONDO_0020088 "Disgenet " 9076 PLIN1 Obesity MONDO_0019182 "Disgenet " 9076 PLIN1 FPLD4 MONDO_0013478 "Disgenet " 9077 PLK1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 9077 PLK1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 9077 PLK1 "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 9077 PLK1 "Glioma, malignant" MONDO_0100342 "Disgenet " 9077 PLK1 Leukemias MONDO_0005059 "Disgenet " 9077 PLK1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9077 PLK1 Gliomas MONDO_0021042 "Disgenet " 9080 PLN "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 9080 PLN Cardiomyopathy MONDO_0004994 "Disgenet " 9080 PLN "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 9080 PLN "Arrhythmogenic right ventricular dysplasia" MONDO_0016587 "Disgenet " 9080 PLN "Atrial Fibrillation" MONDO_0004981 "Disgenet " 9080 PLN "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 9080 PLN CMD1P MONDO_0012362 "Disgenet " 9080 PLN "intrinsic cardiomyopathy" MONDO:0000591 "ClinGen " 9080 PLN "arrhythmogenic right ventricular cardiomyopathy" MONDO:0016587 "ClinGen " 9081 PLOD1 "Ehlers Danlos Syndrome" MONDO_0020066 "Disgenet " 9081 PLOD1 "Ehlers-Danlos syndrome type 6" MONDO_0009242 "Disgenet " 9082 PLOD2 "BRUCK SYNDROME 2" MONDO_0012217 "Disgenet " 9082 PLOD2 "Osteogenesis Imperfecta" MONDO_0012591 "Disgenet " 9082 PLOD2 "bruck syndrome" MONDO_0017195 "Disgenet " 9083 PLOD3 "BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS" MONDO_0012892 "Disgenet " 9086 PLP1 "Cocaine abuse" MONDO_0004456 "Disgenet " 9086 PLP1 "PELIZAEUS MERZBACHER DIS CLASSIC" MONDO_0017222 "Disgenet " 9086 PLP1 HEMS "Disgenet " 9086 PLP1 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 9086 PLP1 "Pelizeaus-Merzbacher spectrum disorder" MONDO:0010714 "ClinGen " 9086 PLP1 "SPASTIC PARAPLEGIA 2, X-LINKED" MONDO_0010733 "Disgenet " 9086 PLP1 "Pelizaeus Merzbacher Disease" MONDO_0010714 "Disgenet " 9086 PLP1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 9086 PLP1 Schizophrenias MONDO_0005090 "Disgenet " 9090 PLS1 "DEAFNESS, AUTOSOMAL DOMINANT 76" MONDO_0032917 "Disgenet " 9091 PLS3 "Cancer, Breast" MONDO_0007254 "Disgenet " 9092 PLSCR1 "Disease caused by 2019 novel coronavirus" MONDO_0100096 "Disgenet " 9093 PLTP Hypertriglyceridemia MONDO_0005347 "Disgenet " 9093 PLTP Dyslipidaemia "Disgenet " 9099 PLXNA1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 91 ACADSB SBCADD MONDO_0012392 "Disgenet " 91 ACADSB "2-methylbutyryl-CoA dehydrogenase deficiency" MONDO:0012392 "ClinGen " 910 AZGP1 "Ovary Syndrome, Polycystic" MONDO_0008487 "Disgenet " 910 AZGP1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 910 AZGP1 "CARCINOMA OF PROSTATE" MONDO_0005159 "Disgenet " 910 AZGP1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9100 PLXNA2 Schizophrenias MONDO_0005090 "Disgenet " 9103 PLXNB1 "Cancer, Breast" MONDO_0007254 "Disgenet " 9107 PLXND1 "Mobius Syndrome" MONDO_0014296 "Disgenet " 9107 PLXND1 "Truncus Arteriosus, Persistent" MONDO_0018072 "Disgenet " 9108 PMAIP1 "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 9109 PMCH Obesity MONDO_0019182 "Disgenet " 9109 PMCH Depression MONDO_0002050 "Disgenet " 9109 PMCH "Affective Disorders" MONDO_0005371 "Disgenet " 9109 PMCH "Depressive neurosis" MONDO_0002050 "Disgenet " 9113 PML "PAGET'S BONE DISEASE" MONDO_0005382 "Disgenet " 9113 PML "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9113 PML "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 9113 PML Glioblastoma MONDO_0018177 "Disgenet " 9115 PMM2 "Primary ovarian failure" MONDO_0005387 "Disgenet " 9115 PMM2 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 9115 PMM2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 9115 PMM2 "hyperinsulinemic hypoglycemia with polycystic kidney disease" MONDO:1030000 "ClinGen " 9115 PMM2 "PMM2-congenital disorder of glycosylation" MONDO:0008907 "ClinGen " 9115 PMM2 CDGIa MONDO_0005500 "Disgenet " 9115 PMM2 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 9115 PMM2 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 9117 PMP2 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 9117 PMP2 CMT1G MONDO_0033135 "Disgenet " 9117 PMP2 "Charcot-Marie-Tooth disease" MONDO:0015626 "ClinGen " 9118 PMP22 "Charcot-Marie-Tooth disease type 1A" MONDO:0007309 "ClinGen " 9118 PMP22 "hereditary neuropathy with liability to pressure palsies" MONDO:0008087 "ClinGen " 9118 PMP22 "Guillain-Barre Syndrome" MONDO_0016218 "Disgenet " 9118 PMP22 "Demyelinating Disease" MONDO_0002562 "Disgenet " 9118 PMP22 CMT1E MONDO_0007311 "Disgenet " 9118 PMP22 "Roussy Levy Syndrome" MONDO_0011687 "Disgenet " 9118 PMP22 "HMSN I" MONDO_0019011 "Disgenet " 9118 PMP22 "Peripheral neuropathy" MONDO_0005244 "Disgenet " 9118 PMP22 "Dejerine Sottas Disease" MONDO_0011687 "Disgenet " 9118 PMP22 HMSN MONDO_0012250 "Disgenet " 9118 PMP22 HNPP MONDO_0008087 "Disgenet " 9118 PMP22 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 9118 PMP22 "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A" MONDO_0015626 "Disgenet " 9118 PMP22 "Charcot-Marie-Tooth disease, Type 1E" MONDO_0007311 "Disgenet " 9119 PMPCB "MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6" MONDO_0054785 "Disgenet " 9121 PMS1 "Lynch Syndrome" MONDO_0005835 "Disgenet " 9121 PMS1 "Lynch syndrome" MONDO:0005835 "ClinGen " 9121 PMS1 "Colorectal Neoplasms, Hereditary Nonpolyposis" MONDO_0005835 "Disgenet " 9121 PMS1 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 9121 PMS1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9122 PMS2 "Hereditary Breast and Ovarian Cancer Syndrome" MONDO_0003582 "Disgenet " 9122 PMS2 "COLON POLYP" MONDO_0021400 "Disgenet " 9122 PMS2 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 9122 PMS2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 9122 PMS2 "Familial Malignant Neoplasm" "Disgenet " 9122 PMS2 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 9122 PMS2 "Cancer, Breast" MONDO_0007254 "Disgenet " 9122 PMS2 "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 9122 PMS2 "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 9122 PMS2 "mismatch repair cancer syndrome 1" MONDO:0010159 "ClinGen " 9122 PMS2 "Lynch syndrome" MONDO:0005835 "ClinGen " 9122 PMS2 "hereditary breast carcinoma" MONDO:0016419 "ClinGen " 9122 PMS2 "Cancer Syndrome, Hereditary" MONDO_0015356 "Disgenet " 9122 PMS2 Lymphomas MONDO_0005062 "Disgenet " 9122 PMS2 "Lynch Syndrome" MONDO_0005835 "Disgenet " 9122 PMS2 "Colorectal Neoplasms, Hereditary Nonpolyposis" MONDO_0005835 "Disgenet " 9122 PMS2 HNPCC MONDO_0018630 "Disgenet " 9122 PMS2 "COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4" MONDO_0013699 "Disgenet " 9122 PMS2 BTPS1 MONDO_0031219 "Disgenet " 9122 PMS2 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 9122 PMS2 "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 9122 PMS2 "Constitutional Mismatch Repair Deficiency Syndrome" MONDO_0010159 "Disgenet " 9122 PMS2 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 9126 GIGYF1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 9137 EXOSC9 PCH1D MONDO_0054844 "Disgenet " 914 B2M "Hypoproteinemia, Hypercatabolic" MONDO_0009434 "Disgenet " 914 B2M "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 914 B2M "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 914 B2M "Lymphoma, Peripheral T-Cell" MONDO_0004964 "Disgenet " 914 B2M "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 914 B2M Arthritides MONDO_0005578 "Disgenet " 914 B2M "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 914 B2M "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 914 B2M "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 914 B2M "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 914 B2M "hypoproteinemia, hypercatabolic" MONDO:0009434 "ClinGen " 914 B2M "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 914 B2M Nephropathy MONDO_0005240 "Disgenet " 914 B2M "Multiple Myeloma" MONDO_0009693 "Disgenet " 914 B2M "Acute kidney injury" MONDO_0002492 "Disgenet " 9141 PMVK "Linear Porokeratosis" MONDO_0006602 "Disgenet " 9141 PMVK "Mibelli Porokeratosis" MONDO_0008290 "Disgenet " 9141 PMVK Porokeratosis MONDO_0006602 "Disgenet " 9142 PRRX1 Otocephaly MONDO_0008740 "Disgenet " 9142 PRRX1 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 9153 PNKD "Paroxysmal nonkinesigenic dyskinesia" MONDO_0700088 "Disgenet " 9153 PNKD "Paroxysmal Dyskinesia" MONDO_0001595 "Disgenet " 9153 PNKD PDC MONDO_0700089 "Disgenet " 9154 PNKP "ATAXIA-OCULOMOTOR APRAXIA 4" MONDO_0014557 "Disgenet " 9154 PNKP EIEE10 MONDO_0013254 "Disgenet " 9154 PNKP CMT2B2 MONDO_0011570 "Disgenet " 9154 PNKP "microcephaly, seizures, and developmental delay" MONDO:0013254 "ClinGen " 9154 PNKP "Global developmental delay" "Disgenet " 9154 PNKP Microcephalies MONDO_0001149 "Disgenet " 9154 PNKP "Microcephaly, congenital" "Disgenet " 9155 PNLIP "PANCREATIC LIPASE DEFICIENCY" MONDO_0013700 "Disgenet " 9160 PNMT "High blood pressure" MONDO_0005044 "Disgenet " 9163 PNOC "Depressive neurosis" MONDO_0002050 "Disgenet " 9163 PNOC Depression MONDO_0002050 "Disgenet " 9163 PNOC "Abstinence Syndromes, Neonatal" MONDO_0005566 "Disgenet " 9163 PNOC "NEUROGENIC INFLAMM" "Disgenet " 9171 PODXL "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9173 POLA1 "X-linked intellectual disability Van Esch type (disorder)" MONDO_0015601 "Disgenet " 9173 POLA1 PDR MONDO_0010523 "Disgenet " 9173 POLA1 "X-linked reticulate pigmentary disorder" MONDO:0010523 "ClinGen " 9174 POLB "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 9174 POLB "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 9174 POLB "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 9175 POLD1 PPAP MONDO_0018653 "Disgenet " 9175 POLD1 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 9175 POLD1 "Cancer, Breast" MONDO_0007254 "Disgenet " 9175 POLD1 "MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME" MONDO_0014157 "Disgenet " 9175 POLD1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 9175 POLD1 "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 9175 POLD1 Lipodystrophies MONDO_0006573 "Disgenet " 9175 POLD1 "non-severe combined immunodeficiency due to polymerase delta deficiency" MONDO:0800145 "ClinGen " 9175 POLD1 "POLD1-related polyposis and colorectal cancer syndrome" MONDO:0100351 "ClinGen " 9175 POLD1 "mandibular hypoplasia-deafness-progeroid syndrome" MONDO:0014157 "ClinGen " 9175 POLD1 "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 9176 POLD2 "non-severe combined immunodeficiency due to polymerase delta deficiency" MONDO:0800145 "ClinGen " 9177 POLE "POLE-related polyposis and colorectal cancer syndrome" MONDO:0100287 "ClinGen " 9177 POLE "Endometrioid carcinoma" MONDO_0002447 "Disgenet " 9177 POLE "Breast Neoplasms" MONDO_0021100 "Disgenet " 9177 POLE Glioblastoma MONDO_0018177 "Disgenet " 9177 POLE "Familial Malignant Neoplasm" "Disgenet " 9177 POLE "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 9177 POLE "Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies" MONDO_0013873 "Disgenet " 9177 POLE "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 9177 POLE "Cancer, Breast" MONDO_0007254 "Disgenet " 9177 POLE "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 9177 POLE "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 9177 POLE Endometrium MONDO_0011962 "Disgenet " 9177 POLE PPAP MONDO_0018653 "Disgenet " 9177 POLE "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 9177 POLE "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 9179 POLG "Disease, Alpers'" MONDO_0008758 "Disgenet " 9179 POLG SANDO MONDO_0011835 "Disgenet " 9179 POLG Parkinsonism MONDO_0021095 "Disgenet " 9179 POLG "Parkinson Disease" MONDO_0014796 "Disgenet " 9179 POLG "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 9179 POLG Epilepsies MONDO_0005027 "Disgenet " 9179 POLG "Progressive external ophthalmoplegia" MONDO_0019016 "Disgenet " 9179 POLG "MNGIE syndrome (diagnosis)" MONDO_0017575 "Disgenet " 9179 POLG Polyneuropathy MONDO_0001824 "Disgenet " 9179 POLG "Ataxia, Spinocerebellar" MONDO_0000437 "Disgenet " 9179 POLG "epileptic encephalopathy" "Disgenet " 9179 POLG "Charcot Marie Disease" MONDO_0011687 "Disgenet " 9179 POLG "MIRAS - mitochondrial recessive ataxia syndrome" MONDO_0016798 "Disgenet " 9179 POLG "MELAS Syndrome" MONDO_0010789 "Disgenet " 9179 POLG "MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)" MONDO_0013350 "Disgenet " 9179 POLG "Leigh syndrome" MONDO:0009723 "ClinGen " 9179 POLG "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1" MONDO_0009783 "Disgenet " 9179 POLG "Mitochondrial Encephalomyopathies" MONDO_0004675 "Disgenet " 9179 POLG "Encephalomyelopathies, Subacute Necrotizing" MONDO_0009723 "Disgenet " 9179 POLG "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE" MONDO_0016810 "Disgenet " 9179 POLG "Multiple Sclerosis" MONDO_0005301 "Disgenet " 9179 POLG "Mitochondrial Diseases" MONDO_0004069 "Disgenet " 9179 POLG Cardiomyopathy MONDO_0004994 "Disgenet " 9179 POLG "Affective Disorders" MONDO_0005371 "Disgenet " 9179 POLG "Infertility, Male" MONDO_0005372 "Disgenet " 9179 POLG "SPINOCEREBELLAR ATAXIA WITH EPILEPSY" MONDO_0016809 "Disgenet " 9179 POLG PEOA1 MONDO_0008003 "Disgenet " 9179 POLG "Menopause, Premature" MONDO_0001119 "Disgenet " 9179 POLG "Primary ovarian failure" MONDO_0005387 "Disgenet " 9179 POLG "mitochondrial dna depletion" MONDO_0018158 "Disgenet " 9179 POLG "adPEO - autosomal dominant progressive external ophthalmoplegia" MONDO_0008003 "Disgenet " 9179 POLG "Bipolar Disorders" MONDO_0004985 "Disgenet " 9180 POLG2 "MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE)" MONDO_0030326 "Disgenet " 9180 POLG2 "MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE)" MONDO_0032799 "Disgenet " 9180 POLG2 PEOA4 MONDO_0012415 "Disgenet " 9181 POLH "xeroderma pigmentosum variant type" MONDO:0010214 "ClinGen " 9181 POLH XPV MONDO_0010214 "Disgenet " 9181 POLH "Kaposis Disease" MONDO_0010215 "Disgenet " 9183 POLK Glioblastoma MONDO_0018177 "Disgenet " 9187 POLR2A "neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities" MONDO:0032829 "ClinGen " 9187 POLR2A NEDHIB MONDO_0032829 "Disgenet " 9187 POLR2A "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 92 ACADVL "very long chain acyl-CoA dehydrogenase deficiency" MONDO:0008723 "ClinGen " 92 ACADVL Myopathy MONDO_0003939 "Disgenet " 92 ACADVL "ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF" MONDO_0008723 "Disgenet " 9200 POLRMT "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55" MONDO_0859228 "Disgenet " 9201 POMC Nephropathy MONDO_0005240 "Disgenet " 9201 POMC "Liver Failure, Acute" MONDO_0019542 "Disgenet " 9201 POMC Osteoporoses MONDO_0005298 "Disgenet " 9201 POMC Catalepsies "Disgenet " 9201 POMC Hypernatremia "Disgenet " 9201 POMC "Congestive heart failure" MONDO_0005252 "Disgenet " 9201 POMC "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 9201 POMC "Fatty Liver" MONDO_0004790 "Disgenet " 9201 POMC Pneumonia MONDO_0005249 "Disgenet " 9201 POMC "NEUROGENIC INFLAMM" "Disgenet " 9201 POMC "Restless legs syndrome" MONDO_0005391 "Disgenet " 9201 POMC "Bile Duct Obstructions" MONDO_0001751 "Disgenet " 9201 POMC "Abuse, Alcohol" MONDO_0002046 "Disgenet " 9201 POMC Hirsutism "Disgenet " 9201 POMC "Bipolar Disorders" MONDO_0004985 "Disgenet " 9201 POMC "Depressive neurosis" MONDO_0002050 "Disgenet " 9201 POMC "Diabetes Mellitus" MONDO_0005015 "Disgenet " 9201 POMC "ACTH Syndrome, Ectopic" MONDO_0043472 "Disgenet " 9201 POMC "High blood pressure" MONDO_0005044 "Disgenet " 9201 POMC "Multiple Sclerosis" MONDO_0005301 "Disgenet " 9201 POMC Alcoholism MONDO_0002046 "Disgenet " 9201 POMC Depression MONDO_0002050 "Disgenet " 9201 POMC "Cushing Syndrome" MONDO_0003009 "Disgenet " 9201 POMC Melanoma MONDO_0005105 "Disgenet " 9201 POMC "Infantile spasms" MONDO_0018097 "Disgenet " 9201 POMC Obesity MONDO_0019182 "Disgenet " 9201 POMC "Pituitary-dependent Cushing's disease" MONDO_0020528 "Disgenet " 9201 POMC Synovitides MONDO_0002400 "Disgenet " 9201 POMC Cardiomyopathy MONDO_0004994 "Disgenet " 9201 POMC "Myasthenia Gravis" MONDO_0009688 "Disgenet " 9201 POMC "Opsoclonus Myoclonus Syndrome" MONDO_0015247 "Disgenet " 9201 POMC "Renal cell carcinoma" MONDO_0005549 "Disgenet " 9201 POMC "Childhood autism" MONDO_0005260 "Disgenet " 9201 POMC "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 9201 POMC "Diabetes Insipidus" MONDO_0004782 "Disgenet " 9201 POMC "Attacks, Salaam" MONDO_0018097 "Disgenet " 9201 POMC "Acute kidney injury" MONDO_0002492 "Disgenet " 9201 POMC Epilepsies MONDO_0005027 "Disgenet " 9201 POMC "Obesity, Early-Onset, Adrenal Insufficiency, and Red Hair" MONDO_0012335 "Disgenet " 9201 POMC "Mental Disorder" MONDO_0005084 "Disgenet " 9202 POMT1 FCMD MONDO_0000171 "Disgenet " 9202 POMT1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 9202 POMT1 "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1" MONDO_0009364 "Disgenet " 9202 POMT1 MDDGB1 MONDO_0013159 "Disgenet " 9202 POMT1 "myopathy caused by variation in POMT1" MONDO:0700070 "ClinGen " 9202 POMT1 Cardiomyopathy MONDO_0004994 "Disgenet " 9202 POMT1 Lissencephaly MONDO_0018838 "Disgenet " 9202 POMT1 Pachygyria MONDO_0013541 "Disgenet " 9202 POMT1 "Muscle-Eye-Brain Disease" MONDO_0000171 "Disgenet " 9202 POMT1 "Congenital muscular dystrophy" MONDO_0019950 "Disgenet " 9202 POMT1 alpha-Dystroglycanopathies MONDO_0000171 "Disgenet " 9202 POMT1 "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 9202 POMT1 LGMD2K MONDO_0012248 "Disgenet " 9202 POMT1 "Walker-Warburg congenital muscular dystrophy" MONDO_0000171 "Disgenet " 9205 PON2 "Cardiovascular Disease" MONDO_0004995 "Disgenet " 9205 PON2 "Alzheimer Disease" MONDO_0012630 "Disgenet " 9205 PON2 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 9205 PON2 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 9205 PON2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 9205 PON2 "Coronary Disease" MONDO_0005010 "Disgenet " 9205 PON2 "Essential Hypercholesterolemia" MONDO_0005439 "Disgenet " 9206 PON3 Atherosclerosis MONDO_0005311 "Disgenet " 9206 PON3 "Alzheimer Disease" MONDO_0012630 "Disgenet " 9208 POR "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 9208 POR "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 9208 POR "Antley-Bixter syndrome" MONDO_0008803 "Disgenet " 9208 POR ABS1 MONDO_0008803 "Disgenet " 9208 POR "Genitalia external ambiguous" MONDO_0002145 "Disgenet " 9208 POR "DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY" MONDO_0013310 "Disgenet " 9208 POR "Adrenal Hyperplasia, Congenital" MONDO_0018479 "Disgenet " 9208 POR "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis" MONDO:0008726 "ClinGen " 921 B3GAT1 Schizophrenias MONDO_0005090 "Disgenet " 9211 POU2AF1 agammaglobulinemia MONDO:0015977 "ClinGen " 9211 POU2AF1 "primary biliary cirrhosis" MONDO_0005388 "Disgenet " 9212 POU2F1 "Cancer, Breast" MONDO_0007254 "Disgenet " 9215 POU3F2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 9217 POU3F4 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 9217 POU3F4 "Congenital malformation of ear, unspecified" MONDO_0007500 "Disgenet " 9217 POU3F4 DFN3 MONDO_0010576 "Disgenet " 9218 POU4F1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 9218 POU4F1 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 922 B3GAT2 Schizophrenias MONDO_0005090 "Disgenet " 9221 POU5F1 Gliomas MONDO_0021042 "Disgenet " 9221 POU5F1 Seminoma MONDO_0003669 "Disgenet " 9221 POU5F1 carcinogenesis "Disgenet " 9221 POU5F1 "Carcinoma, Embryonal" MONDO_0005440 "Disgenet " 9221 POU5F1 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 9229 PLPP3 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 9229 PLPP3 "Coronary Disease" MONDO_0005010 "Disgenet " 923 B3GAT3 "LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY" MONDO_0009511 "Disgenet " 9232 PPARA Myopathy MONDO_0003939 "Disgenet " 9232 PPARA "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 9232 PPARA Obesity MONDO_0019182 "Disgenet " 9232 PPARA Hyperlipemias MONDO_0021187 "Disgenet " 9232 PPARA "Liver Neoplasm" MONDO_0002691 "Disgenet " 9232 PPARA "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9232 PPARA "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 9232 PPARA Dyslipidaemia "Disgenet " 9232 PPARA "Damage, Reperfusion" MONDO_0005203 "Disgenet " 9232 PPARA "Fatty Liver, Alcoholic" MONDO_0021104 "Disgenet " 9232 PPARA "Coronary Disease" MONDO_0005010 "Disgenet " 9232 PPARA "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 9232 PPARA "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 9232 PPARA "Atopic Eczema" MONDO_0011292 "Disgenet " 9232 PPARA "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 9232 PPARA Schizophrenias MONDO_0005090 "Disgenet " 9232 PPARA "Fatty Liver" MONDO_0004790 "Disgenet " 9232 PPARA Hypertriglyceridemia MONDO_0005347 "Disgenet " 9232 PPARA "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 9232 PPARA "High blood pressure" MONDO_0005044 "Disgenet " 9232 PPARA "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9232 PPARA "Alzheimer Disease" MONDO_0012630 "Disgenet " 9232 PPARA Carcinoma MONDO_0004993 "Disgenet " 9232 PPARA "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 9232 PPARA Nephropathy MONDO_0005240 "Disgenet " 9234 MED1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 9234 MED1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9235 PPARD "Bipolar Disorders" MONDO_0004985 "Disgenet " 9235 PPARD "Fatty Liver" MONDO_0004790 "Disgenet " 9235 PPARD "Neoplasm, Skin" MONDO_0002531 "Disgenet " 9235 PPARD "Liver Disease, Alcoholic" MONDO_0043693 "Disgenet " 9235 PPARD Melanoma MONDO_0005105 "Disgenet " 9235 PPARD "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 9235 PPARD Cardiomyopathy MONDO_0004994 "Disgenet " 9235 PPARD Obesity MONDO_0019182 "Disgenet " 9235 PPARD "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 9235 PPARD "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 9236 PPARG "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 9236 PPARG "Adenocarcinoma, Follicular" MONDO_0005034 "Disgenet " 9236 PPARG Dyslipidaemia "Disgenet " 9236 PPARG "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9236 PPARG "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 9236 PPARG "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 9236 PPARG "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 9236 PPARG "Follicular thyroid cancer" MONDO_0008566 "Disgenet " 9236 PPARG "Neoplasm, Thyroid" MONDO_0015074 "Disgenet " 9236 PPARG "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 9236 PPARG "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 9236 PPARG Melanoma MONDO_0005105 "Disgenet " 9236 PPARG Psoriases MONDO_0005083 "Disgenet " 9236 PPARG "Damage, Reperfusion" MONDO_0005203 "Disgenet " 9236 PPARG Adenocarcinoma MONDO_0004970 "Disgenet " 9236 PPARG "Morbid Obesities" MONDO_0005139 "Disgenet " 9236 PPARG "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 9236 PPARG "KIDNEY FAILURE" MONDO_0001106 "Disgenet " 9236 PPARG "Pituitary-dependent Cushing's disease" MONDO_0020528 "Disgenet " 9236 PPARG "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 9236 PPARG lipodystrophy MONDO:0006573 "ClinGen " 9236 PPARG FPLD3 MONDO_0020088 "Disgenet " 9236 PPARG Atherosclerosis MONDO_0005311 "Disgenet " 9236 PPARG "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 9236 PPARG Obesity MONDO_0019182 "Disgenet " 9236 PPARG "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 9236 PPARG "Alzheimer Disease" MONDO_0012630 "Disgenet " 9236 PPARG Lipodystrophies MONDO_0006573 "Disgenet " 9236 PPARG "Proliferative diabetic retinopathy" MONDO_0001660 "Disgenet " 9236 PPARG "LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2" MONDO_0020088 "Disgenet " 9236 PPARG "Well Differentiated Thyroid Carcinoma" MONDO_0015447 "Disgenet " 9236 PPARG "Anti Phospholipid Syndrome" MONDO_8000010 "Disgenet " 9236 PPARG "Hemorrhages, Subarachnoid" MONDO_0005099 "Disgenet " 9236 PPARG "Barrett Esophagus" MONDO_0013662 "Disgenet " 9236 PPARG "Acute kidney injury" MONDO_0002492 "Disgenet " 9236 PPARG "Affective Disorders" MONDO_0005371 "Disgenet " 9236 PPARG "Heart failure" MONDO_0005252 "Disgenet " 9236 PPARG "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 9236 PPARG "Koberling Dunnigan Syndrome" MONDO_0020088 "Disgenet " 9236 PPARG "Congestive heart failure" MONDO_0005252 "Disgenet " 9236 PPARG "Acute Lung Injury" MONDO_0015796 "Disgenet " 9236 PPARG "Cardiovascular Disease" MONDO_0004995 "Disgenet " 9236 PPARG "High blood pressure" MONDO_0005044 "Disgenet " 9236 PPARG "Diabetes Mellitus" MONDO_0005015 "Disgenet " 9236 PPARG "Disease, Metabolic" MONDO_0005066 "Disgenet " 9236 PPARG "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 9236 PPARG "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 9236 PPARG "Liver Neoplasm" MONDO_0002691 "Disgenet " 9236 PPARG "Familial generalized lipodystrophy" MONDO_0006536 "Disgenet " 9237 PPARGC1A "nonalcoholic steatohepatitis (diagnosis)" MONDO_0013209 "Disgenet " 9237 PPARGC1A "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 9237 PPARGC1A Schizophrenias MONDO_0005090 "Disgenet " 9237 PPARGC1A "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 9237 PPARGC1A "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 9237 PPARGC1A "Cardiovascular Disease" MONDO_0004995 "Disgenet " 9237 PPARGC1A "Heart failure" MONDO_0005252 "Disgenet " 9237 PPARGC1A "Parkinson Disease" MONDO_0014796 "Disgenet " 9237 PPARGC1A "Chorea, Huntington" MONDO_0011671 "Disgenet " 9237 PPARGC1A "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 9237 PPARGC1A "Congestive heart failure" MONDO_0005252 "Disgenet " 924 B4GALT1 "Carbohydrate Deficient Glycoprotein Syndrome" MONDO_0015286 "Disgenet " 924 B4GALT1 CDGIId MONDO_0011772 "Disgenet " 9240 PPBP "High blood pressure" MONDO_0005044 "Disgenet " 9240 PPBP "Lung Neoplasm" MONDO_0002732 "Disgenet " 9240 PPBP hypernephroma MONDO_0005086 "Disgenet " 9250 PPFIBP2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9251 CTSA GSL MONDO_0009737 "Disgenet " 9251 CTSA "Disease, Lysosomal Storage" MONDO_0002561 "Disgenet " 9251 CTSA galactosialidosis MONDO:0009737 "ClinGen " 9253 PPIA Cholangiocarcinoma MONDO_0019087 "Disgenet " 9253 PPIA "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 9253 PPIA "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 9253 PPIA "HIV infection" MONDO_0005109 "Disgenet " 9255 PPIB "OSTEOGENESIS IMPERFECTA, TYPE III" MONDO_0009804 "Disgenet " 9255 PPIB "OSTEOGENESIS IMPERFECTA, TYPE IX" MONDO_0009805 "Disgenet " 9255 PPIB "Osteogenesis Imperfecta" MONDO_0012591 "Disgenet " 9260 PPIL1 "Congenital Pontocerebellar Hypoplasia" MONDO_0020135 "Disgenet " 9260 PPIL1 "PONTOCEREBELLAR HYPOPLASIA, TYPE 14" MONDO_0030258 "Disgenet " 9276 PPM1B "2p21 microdeletion syndrome (disorder)" MONDO_0015583 "Disgenet " 9277 PPM1D "Glioma, malignant" MONDO_0100342 "Disgenet " 9277 PPM1D "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 9277 PPM1D "CARCINOMA OF LUNG" MONDO_0005138 "Disgenet " 9277 PPM1D "Cancer, Ovarian" MONDO_0008170 "Disgenet " 9277 PPM1D "syndromic intellectual disability" MONDO:0000508 "ClinGen " 9277 PPM1D "Cancer, Breast" MONDO_0007254 "Disgenet " 9277 PPM1D "Breast Neoplasms" MONDO_0021100 "Disgenet " 9277 PPM1D Gliomas MONDO_0021042 "Disgenet " 9278 PPM1G "alcohol use disorders" MONDO_0002046 "Disgenet " 9279 PDP1 Obesity MONDO_0019182 "Disgenet " 9279 PDP1 "PDHC DEFIC DIS" MONDO_0019169 "Disgenet " 9280 PPOX "variegate porphyria" MONDO:0008297 "ClinGen " 9280 PPOX VP MONDO_0008297 "Disgenet " 9282 PPP1CB "NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2" MONDO_0054588 "Disgenet " 9282 PPP1CB "Noonan Syndrome" MONDO_0018997 "Disgenet " 9282 PPP1CB "Noonan syndrome-like disorder with loose anagen hair" MONDO:0011899 "ClinGen " 9283 PPP1CC "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 9286 PPP1R1A "Congestive heart failure" MONDO_0005252 "Disgenet " 9286 PPP1R1A "Heart failure" MONDO_0005252 "Disgenet " 9286 PPP1R1A "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9287 PPP1R1B Dyskinesia MONDO_0003441 "Disgenet " 9287 PPP1R1B "Bipolar Disorders" MONDO_0004985 "Disgenet " 9287 PPP1R1B Schizophrenias MONDO_0005090 "Disgenet " 9291 PPP1R3A "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 9291 PPP1R3A "Cancer, Breast" MONDO_0007254 "Disgenet " 9298 PPP1R9B Schizophrenias MONDO_0005090 "Disgenet " 9299 PPP2CA "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 93 ACAT1 "beta-ketothiolase deficiency" MONDO:0008760 "ClinGen " 93 ACAT1 "ALPHA-METHYLACETOACETIC ACIDURIA" MONDO_0008760 "Disgenet " 93 ACAT1 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 930 B4GALT7 "Ehlers-Danlos syndrome, spondylodysplastic type, 1" MONDO:0020682 "ClinGen " 930 B4GALT7 "Ehlers Danlos Syndrome" MONDO_0020066 "Disgenet " 930 B4GALT7 "Progeroid variant of Ehlers-Danlos syndrome" MONDO_0007526 "Disgenet " 9303 PPP2R1B CRC MONDO_0005335 "Disgenet " 9303 PPP2R1B "Cancer, Lung" MONDO_0008903 "Disgenet " 9303 PPP2R1B "Lung Neoplasm" MONDO_0002732 "Disgenet " 9303 PPP2R1B "CARCINOMA OF LUNG" MONDO_0005138 "Disgenet " 9304 PPP2R2A "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9305 PPP2R2B SCA12 MONDO_0011439 "Disgenet " 9305 PPP2R2B "Cancer, Breast" MONDO_0007254 "Disgenet " 9305 PPP2R2B "Alzheimer Disease" MONDO_0012630 "Disgenet " 9305 PPP2R2B "Ataxia, Spinocerebellar" MONDO_0000437 "Disgenet " 9306 PPP2R2C "Bipolar Disorders" MONDO_0004985 "Disgenet " 9308 PTPA "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 9311 PPP2R5C "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 9312 PPP2R5D MRD35 MONDO_0014602 "Disgenet " 9312 PPP2R5D "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 9312 PPP2R5D "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 9312 PPP2R5D "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 9314 PPP3CA IECEE1 MONDO_0020627 "Disgenet " 9314 PPP3CA "epileptic encephalopathy" "Disgenet " 9314 PPP3CA "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9314 PPP3CA "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 9316 PPP3CC "Bipolar Disorders" MONDO_0004985 "Disgenet " 9316 PPP3CC Schizophrenias MONDO_0005090 "Disgenet " 9317 PPP3R1 Schizophrenias MONDO_0005090 "Disgenet " 9317 PPP3R1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 9317 PPP3R1 "Hypertrophy, Left Ventricular" "Disgenet " 9317 PPP3R1 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 9323 PPP6C Melanoma MONDO_0005105 "Disgenet " 9325 PPT1 "CEROID LIPOFUSCINOSIS, NEURONAL, 1" MONDO_0009744 "Disgenet " 9325 PPT1 "KUFS DIS" MONDO_0008768 "Disgenet " 9325 PPT1 "Jansky Bielschowsky Disease" MONDO_0008767 "Disgenet " 9325 PPT1 "Batten Spielmeyer Vogt Disease" MONDO_0012588 "Disgenet " 9325 PPT1 "Neuronal ceroid lipofuscinosis" MONDO_0008767 "Disgenet " 9325 PPT1 "neuronal ceroid lipofuscinosis" MONDO:0016295 "ClinGen " 9325 PPT1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 9325 PPT1 "CLN1 disease" "Disgenet " 9330 PQBP1 "RENPENNING SYNDROME 1" MONDO_0010653 "Disgenet " 9330 PQBP1 "Renpenning syndrome" MONDO:0010653 "ClinGen " 9330 PQBP1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 9330 PQBP1 Microcephalies MONDO_0001149 "Disgenet " 9336 PRAME Medulloblastoma MONDO_0007959 "Disgenet " 9336 PRAME "Multiple Myeloma" MONDO_0009693 "Disgenet " 9336 PRAME Melanoma MONDO_0005105 "Disgenet " 9336 PRAME Leukemias MONDO_0005059 "Disgenet " 9336 PRAME "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 9336 PRAME "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 934 BACE2 "Alzheimer Disease" MONDO_0012630 "Disgenet " 9341 PRC1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9341 PRC1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 9341 PRC1 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 9346 PRDM1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 9346 PRDM1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9346 PRDM1 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 9349 PRDM5 "Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility" MONDO_0024543 "Disgenet " 9349 PRDM5 "BRITTLE CORNEA SYNDROME 2" MONDO_0013605 "Disgenet " 9350 PRDM6 "Patent ductus arteriosus" MONDO_0011827 "Disgenet " 9350 PRDM6 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 9352 PRDX1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 9352 PRDX1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 9352 PRDX1 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 9352 PRDX1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9352 PRDX1 "METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE" MONDO_0010184 "Disgenet " 9353 PRDX2 Melanoma MONDO_0005105 "Disgenet " 9353 PRDX2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9353 PRDX2 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 9353 PRDX2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9354 PRDX3 "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32" MONDO_0859245 "Disgenet " 9355 PRDX5 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 9355 PRDX5 "Cancer, Breast" MONDO_0007254 "Disgenet " 9358 PREP Amnesia MONDO_0001152 "Disgenet " 9358 PREP Mania "Disgenet " 9359 SLC26A5 "DEAFNESS, AUTOSOMAL RECESSIVE 61" MONDO_0013471 "Disgenet " 9359 SLC26A5 Hypoacusis MONDO_0005365 "Disgenet " 9359 SLC26A5 "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 936 BAD Leukemias MONDO_0005059 "Disgenet " 936 BAD "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 936 BAD "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 936 BAD "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 936 BAD "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 936 BAD Endometrium MONDO_0011962 "Disgenet " 9360 PRF1 Flu MONDO_0005812 "Disgenet " 9360 PRF1 "Aplastic anemia" MONDO_0015909 "Disgenet " 9360 PRF1 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 9360 PRF1 "Familial hemophagocytic lymphohistiocytosis" MONDO_0009974 "Disgenet " 9360 PRF1 "familial hemophagocytic lymphohistiocytosis 2" MONDO:0011337 "ClinGen " 9360 PRF1 FHL2 MONDO_0011337 "Disgenet " 9360 PRF1 "HIV infection" MONDO_0005109 "Disgenet " 9360 PRF1 "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 9364 PRG4 CACP MONDO_0008828 "Disgenet " 9364 PRG4 Pericarditis MONDO_0005904 "Disgenet " 9364 PRG4 "camptodactyly-arthropathy-coxa vara-pericarditis syndrome" MONDO:0008828 "ClinGen " 9369 PRIM1 "primordial dwarfism-immunodeficiency-lipodystrophy syndrome" MONDO:0859276 "ClinGen " 937 BAG1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 937 BAG1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 937 BAG1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 937 BAG1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 937 BAG1 Depression MONDO_0002050 "Disgenet " 937 BAG1 "Depressive neurosis" MONDO_0002050 "Disgenet " 9376 PRKAA1 "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 9376 PRKAA1 "Chorea, Huntington" MONDO_0011671 "Disgenet " 9376 PRKAA1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 9376 PRKAA1 "Cancer, Breast" MONDO_0007254 "Disgenet " 9377 PRKAA2 "Cerebrovascular accident" MONDO_0005098 "Disgenet " 9377 PRKAA2 "Cancer, Breast" MONDO_0007254 "Disgenet " 9377 PRKAA2 Cardiomyopathy MONDO_0004994 "Disgenet " 9377 PRKAA2 "Glucose Intolerance" MONDO_0001076 "Disgenet " 9377 PRKAA2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 9380 PRKACA "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 9380 PRKACA Cholangiocarcinoma MONDO_0019087 "Disgenet " 9380 PRKACA "Adrenal Gland Neoplasm" MONDO_0002817 "Disgenet " 9380 PRKACA "Hepatocellular carcinoma, fibrolamellar" MONDO_0006210 "Disgenet " 9380 PRKACA "Primary pigmented nodular adrenocortical disease" MONDO_0015999 "Disgenet " 9380 PRKACA "Adenomas, Adrenal Cortical" MONDO_0003924 "Disgenet " 9380 PRKACA "Congestive heart failure" MONDO_0005252 "Disgenet " 9380 PRKACA "Heart failure" MONDO_0005252 "Disgenet " 9381 PRKACB "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9381 PRKACB "Cushing Syndrome" MONDO_0003009 "Disgenet " 9381 PRKACB "Adenomas, Adrenal Cortical" MONDO_0003924 "Disgenet " 9386 PRKAG2 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 9386 PRKAG2 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 9386 PRKAG2 "Diseases, Glycogen Storage" MONDO_0010362 "Disgenet " 9386 PRKAG2 CMH6 MONDO_0010946 "Disgenet " 9386 PRKAG2 "PRKAG2-related cardiomyopathy" MONDO:0800484 "ClinGen " 9386 PRKAG2 "Syndrome, Wolf-Parkinson-White" MONDO_0008685 "Disgenet " 9386 PRKAG2 Cardiomyopathy MONDO_0004994 "Disgenet " 9386 PRKAG2 "High blood pressure" MONDO_0005044 "Disgenet " 9386 PRKAG2 "Congestive heart failure" MONDO_0005252 "Disgenet " 9386 PRKAG2 "Hypertrophy, Left Ventricular" "Disgenet " 9386 PRKAG2 "Cardiomyopathy, Hypertrophic, Familial" MONDO_0024573 "Disgenet " 9386 PRKAG2 "GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL" MONDO_0009867 "Disgenet " 9388 PRKAR1A "Carney complex, type 1" MONDO:0008057 "ClinGen " 9388 PRKAR1A Obesity MONDO_0019182 "Disgenet " 9388 PRKAR1A "Cushing Syndrome" MONDO_0003009 "Disgenet " 9388 PRKAR1A "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 9388 PRKAR1A "Isolated PPNAD" MONDO_0015999 "Disgenet " 9388 PRKAR1A "Adrenal cortical carcinoma" MONDO_0006639 "Disgenet " 9388 PRKAR1A "Peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome" MONDO_0019797 "Disgenet " 9388 PRKAR1A CAR MONDO_0015285 "Disgenet " 9388 PRKAR1A CNC1 MONDO_0015285 "Disgenet " 9388 PRKAR1A "Primary pigmented nodular adrenocortical disease" MONDO_0015999 "Disgenet " 939 BAG3 Cardiomyopathy MONDO_0004994 "Disgenet " 939 BAG3 CMD1A MONDO_0005021 "Disgenet " 939 BAG3 "Familial dilated cardiomyopathy" MONDO_0016333 "Disgenet " 939 BAG3 "CARDIOMYOPATHY, DILATED, 1HH" MONDO_0013479 "Disgenet " 939 BAG3 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 939 BAG3 "myofibrillar myopathy" MONDO:0018943 "ClinGen " 939 BAG3 "Myopathy, Myofibrillar, Bag3-Related" MONDO_0013061 "Disgenet " 939 BAG3 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 939 BAG3 "Myofibrillar myopathy" MONDO_0018943 "Disgenet " 9392 PRKAR2B "Congestive heart failure" MONDO_0005252 "Disgenet " 9392 PRKAR2B "Heart failure" MONDO_0005252 "Disgenet " 9392 PRKAR2B Obesity MONDO_0019182 "Disgenet " 9393 PRKCA Gliomas MONDO_0021042 "Disgenet " 9393 PRKCA "CARCINOMA OF PROSTATE" MONDO_0005159 "Disgenet " 9393 PRKCA "Glioblastoma multiforme" MONDO_0018177 "Disgenet " 9393 PRKCA Schizophrenias MONDO_0005090 "Disgenet " 9393 PRKCA "Intestinal Neoplasm" MONDO_0005814 "Disgenet " 9393 PRKCA "Chordoid Glioma of the Third Ventricle (WHO Grade II)" MONDO_0016706 "Disgenet " 9393 PRKCA "Cancer, Ovarian" MONDO_0008170 "Disgenet " 9393 PRKCA "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 9393 PRKCA "Glioma, malignant" MONDO_0100342 "Disgenet " 9393 PRKCA "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 9393 PRKCA "adenocarcinoma of large intestine (diagnosis)" MONDO_0005008 "Disgenet " 9394 PICK1 Schizophrenias MONDO_0005090 "Disgenet " 9394 PICK1 Psychosis MONDO_0005485 "Disgenet " 9394 PICK1 "Unspecified nonorganic psychosis" "Disgenet " 9395 PRKCB "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 9395 PRKCB "Depressions, Unipolar" MONDO_0002050 "Disgenet " 9395 PRKCB "Glioblastoma multiforme" MONDO_0018177 "Disgenet " 9395 PRKCB "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 9395 PRKCB Hyperglycemia MONDO_0002909 "Disgenet " 9395 PRKCB "Childhood autism" MONDO_0005260 "Disgenet " 9395 PRKCB "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 9395 PRKCB "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 9395 PRKCB "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 9397 ZMYND8 "syndromic complex neurodevelopmental disorder" MONDO:0800439 "ClinGen " 9399 PRKCD "systemic lupus erythematosus" MONDO:0007915 "ClinGen " 9399 PRKCD neurotoxicity MONDO_0005527 "Disgenet " 9399 PRKCD "Common Variable Immunodeficiency" MONDO_0015517 "Disgenet " 9399 PRKCD "High blood pressure" MONDO_0005044 "Disgenet " 9399 PRKCD "CVID9, FORMERLY" MONDO_8000024 "Disgenet " 94 ACAT2 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 94 ACAT2 "Cytosolic acetoacetyl-CoA thiolase deficiency" MONDO_0013548 "Disgenet " 94 ACAT2 "acetyl-CoA acetyltransferase-2 deficiency" MONDO:0013548 "ClinGen " 94 ACAT2 "Coronary Disease" MONDO_0005010 "Disgenet " 9401 PRKCE "Liver Neoplasm" MONDO_0002691 "Disgenet " 9401 PRKCE "NAFLD - Nonalcoholic Fatty Liver Disease" MONDO_0013209 "Disgenet " 9401 PRKCE "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 9403 PRKCH "Ischemic stroke" "Disgenet " 9403 PRKCH "Cerebral Infarction" MONDO_0002679 "Disgenet " 9404 PRKCI "Bipolar Disorders" MONDO_0004985 "Disgenet " 9407 PRKD1 "congenital heart disorder" MONDO_0005453 "Disgenet " 9407 PRKD1 CRC MONDO_0005335 "Disgenet " 9407 PRKD1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 9407 PRKD1 Adenocarcinoma MONDO_0004970 "Disgenet " 9407 PRKD1 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 9407 PRKD1 "congenital heart disease" MONDO:0005453 "ClinGen " 9407 PRKD1 "congenital heart disease" MONDO:0005453 "ClinGen " 9407 PRKD1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 941 BAG5 "Parkinson Disease" MONDO_0014796 "Disgenet " 9410 PRKCQ "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 9411 PRKCSH "Polycystic liver disease" MONDO_0000447 "Disgenet " 9411 PRKCSH "Isolated polycystic liver disease" MONDO_0000447 "Disgenet " 9411 PRKCSH "Polycystic kidney" MONDO_0020642 "Disgenet " 9411 PRKCSH "polycystic liver disease 1" MONDO:0008265 "ClinGen " 9412 PRKCZ "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9412 PRKCZ CRC MONDO_0005335 "Disgenet " 9412 PRKCZ Leukemias MONDO_0005059 "Disgenet " 9412 PRKCZ "Bipolar Disorders" MONDO_0004985 "Disgenet " 9413 PRKDC "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 9413 PRKDC "severe combined immunodeficiency due to DNA-PKcs deficiency" MONDO:0014423 "ClinGen " 9413 PRKDC IMD26 MONDO_0014423 "Disgenet " 9413 PRKDC "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9413 PRKDC "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 9414 PRKG1 "Aortic Aneurysm, Thoracic" MONDO_0005396 "Disgenet " 9414 PRKG1 "familial thoracic aortic aneurysm and aortic dissection" MONDO:0019625 "ClinGen " 9437 EIF2AK2 Leukoencephalopathy "Disgenet " 9437 EIF2AK2 "Alzheimer Disease" MONDO_0012630 "Disgenet " 9437 EIF2AK2 "Chorea, Huntington" MONDO_0011671 "Disgenet " 9437 EIF2AK2 "Cognitive Dysfunction" "Disgenet " 9437 EIF2AK2 Dystonia MONDO_0003441 "Disgenet " 9437 EIF2AK2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9437 EIF2AK2 "Parkinson Disease" MONDO_0014796 "Disgenet " 9437 EIF2AK2 "Hepatitis B" MONDO_0005344 "Disgenet " 9437 EIF2AK2 "Status Epilepticus" MONDO_0002125 "Disgenet " 9438 PRKRA Dystonia MONDO_0003441 "Disgenet " 9438 PRKRA DYT16 MONDO_0012789 "Disgenet " 9438 PRKRA Parkinsonism MONDO_0021095 "Disgenet " 9445 PRL Adenocarcinoma MONDO_0004970 "Disgenet " 9445 PRL "Leydig Cell Tumor" MONDO_0006266 "Disgenet " 9445 PRL Parkinsonism MONDO_0021095 "Disgenet " 9445 PRL Catalepsies "Disgenet " 9445 PRL "Prostatic hypertrophy" MONDO_0010811 "Disgenet " 9445 PRL "Heart failure" MONDO_0005252 "Disgenet " 9445 PRL "Congestive heart failure" MONDO_0005252 "Disgenet " 9445 PRL Hypopituitarism MONDO_0013961 "Disgenet " 9445 PRL "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 9445 PRL "Affective Disorders" MONDO_0005371 "Disgenet " 9445 PRL "Childhood autism" MONDO_0005260 "Disgenet " 9445 PRL Gynecomastia MONDO_0001100 "Disgenet " 9445 PRL Anemia MONDO_0002280 "Disgenet " 9445 PRL Hypogonadism MONDO_0002146 "Disgenet " 9445 PRL Schizophrenias MONDO_0005090 "Disgenet " 9445 PRL "Growth Hormone-Secreting Pituitary Adenoma" MONDO_0006238 "Disgenet " 9445 PRL "Sexual Dysfunction" MONDO_0002134 "Disgenet " 9445 PRL Galactorrhea MONDO_0009256 "Disgenet " 9445 PRL Hyperprolactinemia MONDO_0005804 "Disgenet " 9445 PRL "Pituitary Adenoma, PRL-Secreting" MONDO_0010911 "Disgenet " 9445 PRL Adenoma MONDO_0004972 "Disgenet " 9445 PRL Endometrioses MONDO_0005133 "Disgenet " 9445 PRL "Dysfunction, Erectile" MONDO_0005362 "Disgenet " 9445 PRL "Neoplasm, Pituitary" MONDO_0002109 "Disgenet " 9446 PRLR Carcinoma MONDO_0004993 "Disgenet " 9446 PRLR "Familial isolated prolactin receptor deficiency" MONDO_0014250 "Disgenet " 9446 PRLR Hyperprolactinemia MONDO_0005804 "Disgenet " 9449 PRNP Kuru MONDO_0006825 "Disgenet " 9449 PRNP "Alzheimer Disease" MONDO_0012630 "Disgenet " 9449 PRNP "Creutzfeldt-Jakob Disease, Familial" MONDO_0005357 "Disgenet " 9449 PRNP "Chorea, Huntington" MONDO_0011671 "Disgenet " 9449 PRNP HLN1 MONDO_0011299 "Disgenet " 9449 PRNP "Affective Disorders" MONDO_0005371 "Disgenet " 9449 PRNP "Multiple Sclerosis" MONDO_0005301 "Disgenet " 9449 PRNP "Dementia, Vascular" MONDO_0004648 "Disgenet " 9449 PRNP "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9449 PRNP "Degeneration, Progressive Lenticular" MONDO_0010200 "Disgenet " 9449 PRNP "Depressive neurosis" MONDO_0002050 "Disgenet " 9449 PRNP "Insomnia, Fatal Familial" MONDO_0010808 "Disgenet " 9449 PRNP "Gerstmann Straussler Scheinker Disease" MONDO_0007656 "Disgenet " 9449 PRNP "Creutzfeldt Jakob Disease" MONDO_0007403 "Disgenet " 9449 PRNP "Prion Diseases" MONDO_0018926 "Disgenet " 9449 PRNP "Familial prion disease" "Disgenet " 9449 PRNP "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 9451 PROC "hereditary thrombophilia due to congenital protein C deficiency" MONDO:0019145 "ClinGen " 9451 PROC "occlusion of central retinal vein (physical finding)" MONDO_0006951 "Disgenet " 9451 PROC "THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT" MONDO_0008316 "Disgenet " 9451 PROC THPH4 MONDO_0012860 "Disgenet " 9451 PROC "Anti Phospholipid Syndrome" MONDO_8000010 "Disgenet " 9451 PROC "Deep Vein Thrombosis" "Disgenet " 9451 PROC "Venous Thromboembolism" MONDO_0005399 "Disgenet " 9451 PROC "Coagulations, Disseminated Intravascular" MONDO_0001243 "Disgenet " 9451 PROC Sepsis MONDO_0005229 "Disgenet " 9451 PROC Thrombophilia MONDO_0002305 "Disgenet " 9451 PROC "Protein C deficiency" MONDO_0019145 "Disgenet " 9451 PROC "hereditary protein C deficiency" MONDO_0019145 "Disgenet " 9451 PROC Asthma MONDO_0004979 "Disgenet " 9451 PROC "purpura fulminans" MONDO_0000809 "Disgenet " 9451 PROC "THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE" MONDO_0008560 "Disgenet " 9452 PROCR "Coronary Disease" MONDO_0005010 "Disgenet " 9452 PROCR "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 9453 PRODH "Cancer, Breast" MONDO_0007254 "Disgenet " 9453 PRODH "Bipolar Disorders" MONDO_0004985 "Disgenet " 9453 PRODH "hyperprolinemia type 1" MONDO:0009400 "ClinGen " 9453 PRODH "HYPERPROLINEMIA, TYPE I" MONDO_0009400 "Disgenet " 9453 PRODH Schizophrenias MONDO_0005090 "Disgenet " 9454 PROM1 Glioblastoma MONDO_0018177 "Disgenet " 9454 PROM1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 9454 PROM1 "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 9454 PROM1 "Macular dystrophy" "Disgenet " 9454 PROM1 "FUNDUS FLAVIMACULATUS" MONDO_0019353 "Disgenet " 9454 PROM1 "MACULAR DYSTROPHY, RETINAL, 2" MONDO_0011957 "Disgenet " 9454 PROM1 "STARGARDT DISEASE 4" MONDO_0011370 "Disgenet " 9454 PROM1 CORD12 MONDO_0012983 "Disgenet " 9454 PROM1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 9454 PROM1 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 9454 PROM1 "Primary Glioblastoma" MONDO_0018177 "Disgenet " 9454 PROM1 "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 9454 PROM1 "PROM1-related recessive retinopathy" MONDO:1040052 "ClinGen " 9454 PROM1 "Retinal dystrophy" MONDO_0019118 "Disgenet " 9456 PROS1 "Deep Vein Thrombosis" "Disgenet " 9456 PROS1 "Hereditary protein S deficiency (disorder)" MONDO_0019144 "Disgenet " 9456 PROS1 Thrombocytopenia MONDO_0002049 "Disgenet " 9456 PROS1 CRC MONDO_0005335 "Disgenet " 9456 PROS1 "Cerebral Infarction" MONDO_0002679 "Disgenet " 9456 PROS1 "protein S deficiency" MONDO:0002304 "ClinGen " 9456 PROS1 "Deficiencies, Protein S" MONDO_0002304 "Disgenet " 9456 PROS1 THPH6 MONDO_0013791 "Disgenet " 9456 PROS1 "THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT" MONDO_0012868 "Disgenet " 9457 PLPBP "EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT" MONDO_0015005 "Disgenet " 9457 PLPBP "EPILEPSY, PYRIDOXINE-DEPENDENT" MONDO_0009945 "Disgenet " 9459 PROX1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 9459 PROX1 "congenital heart disease" MONDO:0005453 "ClinGen " 946 MAGI1 Schizophrenias MONDO_0005090 "Disgenet " 946 MAGI1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 9461 PRPH "amyotrophic lateral sclerosis" MONDO:0004976 "ClinGen " 9461 PRPH "AMYOTROPHIC LATERAL SCLEROSIS 1" MONDO_0005144 "Disgenet " 9461 PRPH "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 9461 PRPH "Motor Neuron Disease" MONDO_0008780 "Disgenet " 9462 PRPS1 "PRPS1 deficiency disorder" MONDO:0100061 "ClinGen " 9462 PRPS1 "phosphoribosylpyrophosphate synthetase superactivity" MONDO:0010395 "ClinGen " 9462 PRPS1 "Charcot Marie Disease" MONDO_0011687 "Disgenet " 9462 PRPS1 CRC MONDO_0005335 "Disgenet " 9462 PRPS1 Gout MONDO_0005393 "Disgenet " 9462 PRPS1 "CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5" MONDO_0009788 "Disgenet " 9462 PRPS1 "PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY" MONDO_0010395 "Disgenet " 9462 PRPS1 DFN2 MONDO_0020768 "Disgenet " 9462 PRPS1 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 9462 PRPS1 ARTS MONDO_0010533 "Disgenet " 947 BAIAP2 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 947 BAIAP2 "Attention Deficit Disorder with Hyperactivity" MONDO_0100518 "Disgenet " 9476 HTRA1 "High blood pressure" MONDO_0005044 "Disgenet " 9476 HTRA1 "AAMD - Age related macular degeneration" MONDO_0005150 "Disgenet " 9476 HTRA1 "Cognitive Dysfunction" "Disgenet " 9476 HTRA1 "CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2" MONDO_0014768 "Disgenet " 9476 HTRA1 "EMD - Exudative macular degeneration" MONDO_0005417 "Disgenet " 9476 HTRA1 "Cerebral microangiopathy" "Disgenet " 9476 HTRA1 "CADASIL Syndrome" MONDO_0007432 "Disgenet " 9476 HTRA1 "Degeneration, Macular" MONDO_0003004 "Disgenet " 9476 HTRA1 CARASIL MONDO_0010829 "Disgenet " 9477 PRSS12 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 9477 PRSS12 "non-syndromic intellectual disability" MONDO:0000509 "ClinGen " 9477 PRSS12 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 9480 PRSS16 Schizophrenias MONDO_0005090 "Disgenet " 9486 PRSS3 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 9486 PRSS3 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 949 BAK1 "CARCINOMA OF CERVIX" MONDO_0005131 "Disgenet " 949 BAK1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 9491 PRSS8 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9498 PSAP "KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY" MONDO_0012720 "Disgenet " 9498 PSAP "Metachromatic leucodystrophy due to deficiency of cerebroside sulfatase activator (disorder)" MONDO_0009590 "Disgenet " 9498 PSAP "Globoid Cell Leukodystrophies" MONDO_0009499 "Disgenet " 9498 PSAP "GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY" MONDO_0012517 "Disgenet " 9498 PSAP "COMBINED SAPOSIN DEFICIENCY" MONDO_0012719 "Disgenet " 9498 PSAP "Leukodystrophies, Metachromatic" MONDO_0018868 "Disgenet " 9498 PSAP "metachromatic leukodystrophy due to saposin B deficiency" MONDO:0009590 "ClinGen " 9498 PSAP "Gaucher disease due to saposin C deficiency" MONDO:0012517 "ClinGen " 9498 PSAP "combined PSAP deficiency" MONDO:0012719 "ClinGen " 9498 PSAP "Krabbe disease due to saposin A deficiency" MONDO:0012720 "ClinGen " 95 SLC33A1 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 95 SLC33A1 "Congenital cataract, deafness, severe developmental delay syndrome" MONDO_0013772 "Disgenet " 95 SLC33A1 "SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT" MONDO_0012928 "Disgenet " 950 BAP1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 950 BAP1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 950 BAP1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 950 BAP1 Meningiomas MONDO_0016642 "Disgenet " 950 BAP1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 950 BAP1 hypernephroma MONDO_0005086 "Disgenet " 950 BAP1 "BAP1-related tumor predisposition syndrome" MONDO:0013692 "ClinGen " 950 BAP1 Mesothelioma MONDO_0005065 "Disgenet " 950 BAP1 "Mesothelioma, malignant" MONDO_0006292 "Disgenet " 950 BAP1 "MELANOMA, UVEAL" MONDO_0006486 "Disgenet " 950 BAP1 Cholangiocarcinoma MONDO_0019087 "Disgenet " 950 BAP1 "Cancer Syndrome, Hereditary" MONDO_0015356 "Disgenet " 950 BAP1 TPDS1 MONDO_0013692 "Disgenet " 950 BAP1 "Familial Malignant Neoplasm" "Disgenet " 950 BAP1 "Kidney Neoplasm" MONDO_0002367 "Disgenet " 950 BAP1 "BRCA1 associated protein 1 tumor predisposition syndrome" MONDO_0013692 "Disgenet " 950 BAP1 "Pleural mesothelioma" MONDO_0006292 "Disgenet " 950 BAP1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 950 BAP1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 950 BAP1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 950 BAP1 "Cancer, Lung" MONDO_0008903 "Disgenet " 950 BAP1 "Nevi and Melanomas" MONDO_0021143 "Disgenet " 950 BAP1 "Neoplasm, Uterine" MONDO_0002715 "Disgenet " 950 BAP1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 950 BAP1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 950 BAP1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 950 BAP1 "Hereditary Cutaneous Melanoma" MONDO_0018961 "Disgenet " 950 BAP1 "Liver Neoplasm" MONDO_0002691 "Disgenet " 950 BAP1 Paraganglioma MONDO_0000448 "Disgenet " 950 BAP1 Leukemias MONDO_0005059 "Disgenet " 950 BAP1 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 950 BAP1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 950 BAP1 "Mucoepidermoid carcinoma" MONDO_0003036 "Disgenet " 9500 PSCA "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 9500 PSCA "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 9500 PSCA "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 9500 PSCA "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9500 PSCA "Duodenal Ulcer" MONDO_0005412 "Disgenet " 9507 PSD Schizophrenias MONDO_0005090 "Disgenet " 9508 PSEN1 "Hidradenitis Suppurativa" MONDO_0006559 "Disgenet " 9508 PSEN1 Depression MONDO_0002050 "Disgenet " 9508 PSEN1 CMD1U MONDO_0013371 "Disgenet " 9508 PSEN1 "Heart failure" MONDO_0005252 "Disgenet " 9508 PSEN1 "Depressive neurosis" MONDO_0002050 "Disgenet " 9508 PSEN1 "Frontotemporal dementia" MONDO_0017276 "Disgenet " 9508 PSEN1 "ALZHEIMER DISEASE 3" MONDO_0011913 "Disgenet " 9508 PSEN1 "familial alzheimer's disease" MONDO_0015140 "Disgenet " 9508 PSEN1 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 9508 PSEN1 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 9508 PSEN1 "Progressive cognitive decline" "Disgenet " 9508 PSEN1 Dementia MONDO_0001627 "Disgenet " 9508 PSEN1 "Amyloid plaques" "Disgenet " 9508 PSEN1 Amyloidoses MONDO_0019065 "Disgenet " 9508 PSEN1 "Degenerative disease of nervous system, unspecified" MONDO_0005559 "Disgenet " 9508 PSEN1 "Alzheimer Disease" MONDO_0012630 "Disgenet " 9508 PSEN1 "Pick's disease" MONDO_0008243 "Disgenet " 9509 PSEN2 "Alzheimer Disease" MONDO_0012630 "Disgenet " 9509 PSEN2 "familial alzheimer's disease" MONDO_0015140 "Disgenet " 9509 PSEN2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 9509 PSEN2 Schizophrenias MONDO_0005090 "Disgenet " 9509 PSEN2 "Cancer, Breast" MONDO_0007254 "Disgenet " 9509 PSEN2 "ALZHEIMER DISEASE 4" MONDO_0011743 "Disgenet " 9509 PSEN2 "CARDIOMYOPATHY, DILATED, 1V" MONDO_0013373 "Disgenet " 9509 PSEN2 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 9509 PSEN2 "dilated cardiomyopathy" MONDO:0005021 "ClinGen " 951 NKX3-2 "SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA" MONDO_0013228 "Disgenet " 952 BARD1 Neuroblastoma MONDO_0005072 "Disgenet " 952 BARD1 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 952 BARD1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 952 BARD1 "Cancer, Breast" MONDO_0007254 "Disgenet " 952 BARD1 "familial cancer of breast" MONDO_0016419 "Disgenet " 952 BARD1 "BARD1-related cancer predisposition" MONDO:0700267 "ClinGen " 952 BARD1 "familial ovarian cancer" MONDO:0016248 "ClinGen " 952 BARD1 "uterine cancer" MONDO_0002715 "Disgenet " 952 BARD1 "Familial Malignant Neoplasm" "Disgenet " 952 BARD1 "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 952 BARD1 "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 952 BARD1 "Hereditary Breast and Ovarian Cancer Syndrome" MONDO_0003582 "Disgenet " 952 BARD1 "Cancer Syndrome, Hereditary" MONDO_0015356 "Disgenet " 952 BARD1 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 952 BARD1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 9527 PSIP1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 9535 PSMA6 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 9538 PSMB10 "PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5" MONDO_0030924 "Disgenet " 9538 PSMB10 "immunodeficiency 121 with autoinflammation" MONDO:0971001 "ClinGen " 9545 PSMB8 CANDLE MONDO_0009726 "Disgenet " 9545 PSMB8 "Nakajo syndrome" MONDO_0009726 "Disgenet " 9545 PSMB8 "Autoinflammatory disease" MONDO_0019751 "Disgenet " 9546 PSMB9 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 9546 PSMB9 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 9546 PSMB9 "Ankylosing spondylitis" MONDO_0005306 "Disgenet " 9546 PSMB9 Lymphomas MONDO_0005062 "Disgenet " 9552 PSMC5 CRC MONDO_0005335 "Disgenet " 9557 PSMD12 "Stankiewicz-Isidor syndrome" MONDO:0054591 "ClinGen " 9557 PSMD12 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 9557 PSMD12 STISS MONDO_0054591 "Disgenet " 9557 PSMD12 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 9564 PSMD6 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 9577 PSPH PSPHD MONDO_0013531 "Disgenet " 9577 PSPH "neurometabolic disorder due to serine deficiency" MONDO:0018162 "ClinGen " 9580 PSTPIP1 "Autoinflammatory disease" MONDO_0019751 "Disgenet " 9580 PSTPIP1 "Pyoderma Gangrenosum" MONDO_0018824 "Disgenet " 9580 PSTPIP1 "PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE" MONDO_0011462 "Disgenet " 9580 PSTPIP1 "Hidradenitis Suppurativa" MONDO_0006559 "Disgenet " 9580 PSTPIP1 "HYPERZINCEMIA AND HYPERCALPROTECTINEMIA" MONDO_0016676 "Disgenet " 9580 PSTPIP1 Acne MONDO_0011438 "Disgenet " 9583 PTBP1 "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 9585 PTCH1 "Basal Cell Nevus Syndrome" MONDO_0958174 "Disgenet " 9585 PTCH1 Medulloblastoma MONDO_0007959 "Disgenet " 9585 PTCH1 Rhabdomyosarcoma MONDO_0005212 "Disgenet " 9585 PTCH1 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 9585 PTCH1 "Neoplasm, Skin" MONDO_0002531 "Disgenet " 9585 PTCH1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 9585 PTCH1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 9585 PTCH1 "nevoid basal cell carcinoma syndrome" MONDO:0007187 "ClinGen " 9585 PTCH1 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 9585 PTCH1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 9585 PTCH1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 9585 PTCH1 Holoprosencephalies MONDO_0016296 "Disgenet " 9585 PTCH1 "Neoplasms, Basal Cell" MONDO_0005341 "Disgenet " 9585 PTCH1 "HOLOPROSENCEPHALY 7" MONDO_0012562 "Disgenet " 9585 PTCH1 "Neuroectodermal Tumor, Primitive" MONDO_0005462 "Disgenet " 9585 PTCH1 "Cleft Lip" MONDO_0004747 "Disgenet " 9585 PTCH1 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 9585 PTCH1 "9q22.3 Deletion" MONDO_0019179 "Disgenet " 9585 PTCH1 GIST MONDO_0011719 "Disgenet " 9585 PTCH1 "UTERUS FIBROMA" MONDO_0007886 "Disgenet " 9585 PTCH1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 9586 PTCH2 "nevoid basal cell carcinoma syndrome" MONDO:0007187 "ClinGen " 9586 PTCH2 Medulloblastoma MONDO_0007959 "Disgenet " 9586 PTCH2 "Basal Cell Nevus Syndrome" MONDO_0958174 "Disgenet " 9587 PTDSS1 "LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM" MONDO_0007892 "Disgenet " 959 BAX "Breast Neoplasms" MONDO_0021100 "Disgenet " 959 BAX ALL MONDO_0004967 "Disgenet " 959 BAX "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 959 BAX "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 959 BAX "Acute kidney injury" MONDO_0002492 "Disgenet " 959 BAX "Kidney Failure, Acute" MONDO_0002492 "Disgenet " 959 BAX "Ataxia Telangiectasia" MONDO_0008840 "Disgenet " 959 BAX "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 959 BAX "Colonic adenocarcinoma" MONDO_0005401 "Disgenet " 959 BAX "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 959 BAX "Ovary Syndrome, Polycystic" MONDO_0008487 "Disgenet " 959 BAX "Alzheimer Disease" MONDO_0012630 "Disgenet " 959 BAX "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 959 BAX "Precursor T-cell lymphoblastic leukaemia" MONDO_0020512 "Disgenet " 959 BAX "Cutaneous T Cell Lymphoma" MONDO_0015758 "Disgenet " 959 BAX "Burkitt Lymphoma" MONDO_0007243 "Disgenet " 959 BAX "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 959 BAX "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 9591 PTGDR Asthma MONDO_0004979 "Disgenet " 9592 PTGDS "Bipolar Disorders" MONDO_0004985 "Disgenet " 9594 PTGER2 Endometrioses MONDO_0005133 "Disgenet " 9596 PTGER4 "Ankylosing spondylitis" MONDO_0005306 "Disgenet " 9596 PTGER4 Endometrioses MONDO_0005133 "Disgenet " 9596 PTGER4 "Ulcerative colitis" MONDO_0005101 "Disgenet " 9599 PTGES Hydronephroses MONDO_0005510 "Disgenet " 9603 PTGIS "Lung Neoplasm" MONDO_0002732 "Disgenet " 9603 PTGIS "Essential hypertension" MONDO_0007781 "Disgenet " 9603 PTGIS "Patent ductus arteriosus" MONDO_0011827 "Disgenet " 9603 PTGIS "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 9603 PTGIS "High blood pressure" MONDO_0005044 "Disgenet " 9603 PTGIS "Cerebral Infarction" MONDO_0002679 "Disgenet " 9604 PTGS1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 9604 PTGS1 Carcinoma MONDO_0004993 "Disgenet " 9604 PTGS1 "platelet-type bleeding disorder 12" MONDO:0011588 "ClinGen " 9604 PTGS1 Schizophrenias MONDO_0005090 "Disgenet " 9604 PTGS1 "Gastric ulcer" MONDO_0001126 "Disgenet " 9604 PTGS1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 9605 PTGS2 "Depressions, Unipolar" MONDO_0002050 "Disgenet " 9605 PTGS2 "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 9605 PTGS2 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 9605 PTGS2 "Coronary Disease" MONDO_0005010 "Disgenet " 9605 PTGS2 "Bone Neoplasms" MONDO_0002129 "Disgenet " 9605 PTGS2 "Neoplasm, Tongue" MONDO_0004631 "Disgenet " 9605 PTGS2 "Gastro Esophageal Reflux" MONDO_0007186 "Disgenet " 9605 PTGS2 "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 9605 PTGS2 "Glioma, malignant" MONDO_0100342 "Disgenet " 9605 PTGS2 "B Cell Lymphoma" MONDO_0015759 "Disgenet " 9605 PTGS2 "Neoplasm, Thyroid" MONDO_0015074 "Disgenet " 9605 PTGS2 "Dysthyroid exophthalmos" MONDO_0018756 "Disgenet " 9605 PTGS2 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 9605 PTGS2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9605 PTGS2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9605 PTGS2 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 9605 PTGS2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 9605 PTGS2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 9605 PTGS2 "Cardiovascular Disease" MONDO_0004995 "Disgenet " 9605 PTGS2 "Brain Injuries" MONDO_0043510 "Disgenet " 9605 PTGS2 "Childhood autism" MONDO_0005260 "Disgenet " 9605 PTGS2 Arterioscleroses MONDO_0002277 "Disgenet " 9605 PTGS2 "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 9605 PTGS2 Adenocarcinoma MONDO_0004970 "Disgenet " 9605 PTGS2 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 9605 PTGS2 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 9605 PTGS2 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 9605 PTGS2 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 9605 PTGS2 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 9605 PTGS2 Asthma MONDO_0004979 "Disgenet " 9605 PTGS2 Obesity MONDO_0019182 "Disgenet " 9605 PTGS2 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 9605 PTGS2 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 9605 PTGS2 "Affective Disorders" MONDO_0005371 "Disgenet " 9605 PTGS2 "Abuse, Marihuana" MONDO_0005689 "Disgenet " 9605 PTGS2 Leiomyosarcoma MONDO_0005058 "Disgenet " 9605 PTGS2 "Cancer, Squamous Cell" MONDO_0002532 "Disgenet " 9605 PTGS2 "Diseases, Nervous System" MONDO_0005071 "Disgenet " 9605 PTGS2 Hyperglycemia MONDO_0002909 "Disgenet " 9605 PTGS2 Papilloma MONDO_0002363 "Disgenet " 9605 PTGS2 Colitides MONDO_0005534 "Disgenet " 9605 PTGS2 "Diseases, Lung" MONDO_0005275 "Disgenet " 9605 PTGS2 "Heart failure" MONDO_0005252 "Disgenet " 9605 PTGS2 Pancreatitis MONDO_0004982 "Disgenet " 9605 PTGS2 "Congestive heart failure" MONDO_0005252 "Disgenet " 9605 PTGS2 "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 9605 PTGS2 "Aortic Aneurysm, Abdominal" MONDO_0005350 "Disgenet " 9605 PTGS2 "Fibroses, Oral Submucous" MONDO_0018166 "Disgenet " 9605 PTGS2 "Breast cancer (ductal)" MONDO_0004953 "Disgenet " 9605 PTGS2 "Fibrosing alveolitis" MONDO_0800029 "Disgenet " 9605 PTGS2 "Carcinoma in Situ" MONDO_0004647 "Disgenet " 9605 PTGS2 "Gastric ulcer" MONDO_0001126 "Disgenet " 9605 PTGS2 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 9605 PTGS2 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 9605 PTGS2 "Disease, Schaumann" MONDO_0008399 "Disgenet " 9605 PTGS2 "Status Epilepticus" MONDO_0002125 "Disgenet " 9605 PTGS2 "Neoplasm, Skin" MONDO_0002531 "Disgenet " 9605 PTGS2 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 9605 PTGS2 "Adenomatous Polyposis Coli" MONDO_0021056 "Disgenet " 9605 PTGS2 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 9605 PTGS2 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 9605 PTGS2 "Amyotrophic Lateral Sclerosis" MONDO_0004976 "Disgenet " 9605 PTGS2 Depression MONDO_0002050 "Disgenet " 9605 PTGS2 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 9605 PTGS2 "Mouth Neoplasm" MONDO_0021245 "Disgenet " 9605 PTGS2 "Barrett Esophagus" MONDO_0013662 "Disgenet " 9605 PTGS2 COPD MONDO_0005002 "Disgenet " 9605 PTGS2 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 9605 PTGS2 Endometrioses MONDO_0005133 "Disgenet " 9605 PTGS2 Cholangiocarcinoma MONDO_0019087 "Disgenet " 9605 PTGS2 "Cerebrovascular accident" MONDO_0005098 "Disgenet " 9605 PTGS2 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 9605 PTGS2 Schizophrenias MONDO_0005090 "Disgenet " 9605 PTGS2 "High blood pressure" MONDO_0005044 "Disgenet " 9605 PTGS2 "Cystic Fibrosis" MONDO_0009061 "Disgenet " 9605 PTGS2 "Carcinomas, Infiltrating Duct" MONDO_0005590 "Disgenet " 9605 PTGS2 Nephropathy MONDO_0005240 "Disgenet " 9605 PTGS2 Carcinoma MONDO_0004993 "Disgenet " 9605 PTGS2 Esophagitides MONDO_0001409 "Disgenet " 9605 PTGS2 "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 9605 PTGS2 "Intestinal Polyp" MONDO_0005288 "Disgenet " 9605 PTGS2 "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 9605 PTGS2 "Depressive neurosis" MONDO_0002050 "Disgenet " 9605 PTGS2 "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 9605 PTGS2 Atherosclerosis MONDO_0005311 "Disgenet " 9605 PTGS2 "adenocarcinoma of esophagus (diagnosis)" MONDO_0005028 "Disgenet " 9605 PTGS2 Gliomas MONDO_0021042 "Disgenet " 9605 PTGS2 Epithelioma MONDO_0004993 "Disgenet " 9605 PTGS2 Melanoma MONDO_0005105 "Disgenet " 9605 PTGS2 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 9606 PTH Anemia MONDO_0002280 "Disgenet " 9606 PTH "Hypoparathyroidism familial isolated" MONDO_0016390 "Disgenet " 9606 PTH HYPERPHOSPHATEMIA MONDO_0000328 "Disgenet " 9606 PTH "Kidney Failure, Chronic" MONDO_0004375 "Disgenet " 9606 PTH Osteoporoses MONDO_0005298 "Disgenet " 9606 PTH "Hyperparathyroidism, Secondary" MONDO_0006964 "Disgenet " 9606 PTH Hypocalcemia "Disgenet " 9606 PTH Hypercalcemia MONDO_0001566 "Disgenet " 9606 PTH "Primary hyperparathyroidism" MONDO_0010837 "Disgenet " 9606 PTH Rickets MONDO_0005520 "Disgenet " 9606 PTH "Congestive heart failure" MONDO_0005252 "Disgenet " 9606 PTH "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 9606 PTH "Bone Losses, Perimenopausal" MONDO_0008159 "Disgenet " 9606 PTH FIH1 MONDO_0007796 "Disgenet " 9606 PTH "High blood pressure" MONDO_0005044 "Disgenet " 9606 PTH Uremia MONDO_0007008 "Disgenet " 9606 PTH "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 9606 PTH "Heart failure" MONDO_0005252 "Disgenet " 9606 PTH "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 9607 PTHLH "Breast Neoplasms" MONDO_0021100 "Disgenet " 9607 PTHLH "Cancer, Breast" MONDO_0007254 "Disgenet " 9607 PTHLH "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9607 PTHLH "Multiple Myeloma" MONDO_0009693 "Disgenet " 9607 PTHLH "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 9607 PTHLH BDE2 MONDO_0013244 "Disgenet " 9607 PTHLH "Chronic pancreatitis" MONDO_0005003 "Disgenet " 9607 PTHLH "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 9607 PTHLH BDE MONDO_0019677 "Disgenet " 9607 PTHLH Hypercalcemia MONDO_0001566 "Disgenet " 9607 PTHLH "Neuroendocrine Tumors" MONDO_0019496 "Disgenet " 9608 PTH1R "Disease, Ollier" MONDO_0013808 "Disgenet " 9608 PTH1R "Bone Modeling Defect of Hands and Feet" MONDO_0010803 "Disgenet " 9608 PTH1R Pseudohypoparathyroidism MONDO_0019992 "Disgenet " 9608 PTH1R chondrodysplasia MONDO_0022723 "Disgenet " 9608 PTH1R "METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE" MONDO_0007982 "Disgenet " 9608 PTH1R "FAILURE OF TOOTH ERUPTION, PRIMARY" MONDO_0007434 "Disgenet " 9608 PTH1R "CHONDRODYSPLASIA, BLOMSTRAND TYPE" MONDO_0008970 "Disgenet " 961 BAZ1B "Syndrome, Williams" MONDO_0008678 "Disgenet " 9611 PTK2 "Atrial Fibrillation" MONDO_0004981 "Disgenet " 9611 PTK2 "Glioblastoma multiforme" MONDO_0018177 "Disgenet " 9611 PTK2 Glioblastoma MONDO_0018177 "Disgenet " 9611 PTK2 "Fibroid Tumor" MONDO_0001572 "Disgenet " 9611 PTK2 "Melanoma metastatic" MONDO_0005191 "Disgenet " 9611 PTK2 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 9611 PTK2 "Mouth Neoplasm" MONDO_0021245 "Disgenet " 9611 PTK2 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9611 PTK2 "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 9611 PTK2 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 9612 PTK2B "Cancer, Breast" MONDO_0007254 "Disgenet " 9612 PTK2B "Alzheimer Disease" MONDO_0012630 "Disgenet " 9612 PTK2B "High blood pressure" MONDO_0005044 "Disgenet " 9612 PTK2B Melanoma MONDO_0005105 "Disgenet " 9612 PTK2B "Status Epilepticus" MONDO_0002125 "Disgenet " 962 BAZ2A "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9623 PTMA "Lung Neoplasm" MONDO_0002732 "Disgenet " 963 BAZ2B "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 9630 PTN Carcinoma MONDO_0004993 "Disgenet " 9634 PTP4A1 Alcoholism MONDO_0002046 "Disgenet " 9636 PTP4A3 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 9639 HACD1 "Congenital myopathies" MONDO_0013177 "Disgenet " 9639 HACD1 "congenital myopathy" MONDO:0019952 "ClinGen " 9642 PTPN1 Obesity MONDO_0019182 "Disgenet " 9642 PTPN1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 9642 PTPN1 Schizophrenias MONDO_0005090 "Disgenet " 9642 PTPN1 "High blood pressure" MONDO_0005044 "Disgenet " 9642 PTPN1 "Essential hypertension" MONDO_0007781 "Disgenet " 9642 PTPN1 "Rett Syndrome" MONDO_0010726 "Disgenet " 9642 PTPN1 "Hodgkin's granuloma" MONDO_0004952 "Disgenet " 9642 PTPN1 "B Cell Lymphoma" MONDO_0015759 "Disgenet " 9642 PTPN1 Hyperinsulinism MONDO_0002177 "Disgenet " 9644 PTPN11 RASopathy MONDO_0021060 "Disgenet " 9644 PTPN11 "LEOPARD SYNDROME 1" MONDO_0007893 "Disgenet " 9644 PTPN11 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 9644 PTPN11 Neuroblastoma MONDO_0005072 "Disgenet " 9644 PTPN11 METACHONDROMATOSIS MONDO_0007979 "Disgenet " 9644 PTPN11 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 9644 PTPN11 "Noonan Syndrome" MONDO_0018997 "Disgenet " 9644 PTPN11 JMML MONDO_0011908 "Disgenet " 9644 PTPN11 "multiple lentigines syndrome" MONDO_0007893 "Disgenet " 9644 PTPN11 "NOONAN SYNDROME 1" MONDO_0018997 "Disgenet " 9644 PTPN11 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 9644 PTPN11 "Cardiofaciocutaneous Syndrome" MONDO_0007265 "Disgenet " 9644 PTPN11 "NEUROFIBROMATOSIS-NOONAN SYNDROME" MONDO_0011035 "Disgenet " 9644 PTPN11 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 9644 PTPN11 Thrombocytopenia MONDO_0002049 "Disgenet " 9644 PTPN11 "Gastric adenocarcinoma" MONDO_0005036 "Disgenet " 9644 PTPN11 "Brain Neoplasms" MONDO_0021211 "Disgenet " 9644 PTPN11 "Malignant neoplasm of stomach" MONDO_0021085 "Disgenet " 9644 PTPN11 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 9644 PTPN11 Leukemias MONDO_0005059 "Disgenet " 9644 PTPN11 "cardiofaciocutaneous syndrome" MONDO:0015280 "ClinGen " 9644 PTPN11 "Noonan syndrome with multiple lentigines" MONDO:0007893 "ClinGen " 9644 PTPN11 "Costello syndrome" MONDO:0009026 "ClinGen " 9644 PTPN11 "Noonan syndrome" MONDO:0018997 "ClinGen " 9644 PTPN11 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 9644 PTPN11 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 9644 PTPN11 Astrocytoma MONDO_0019781 "Disgenet " 9644 PTPN11 Adenocarcinoma MONDO_0004970 "Disgenet " 9644 PTPN11 Blepharoptoses MONDO_0000728 "Disgenet " 9644 PTPN11 "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 9644 PTPN11 Lymphomas MONDO_0005062 "Disgenet " 9644 PTPN11 "Cartilaginous exostosis" "Disgenet " 9644 PTPN11 "Multiple Myeloma" MONDO_0009693 "Disgenet " 9644 PTPN11 "Global developmental delay" "Disgenet " 9644 PTPN11 "Atrophic Gastritides" MONDO_0006665 "Disgenet " 9644 PTPN11 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 9644 PTPN11 "COSTELLO SYNDROME" MONDO_0009026 "Disgenet " 9645 PTPN12 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 9645 PTPN12 "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 9646 PTPN13 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 9646 PTPN13 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9646 PTPN13 "Cancer, Breast" MONDO_0007254 "Disgenet " 9646 PTPN13 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 9646 PTPN13 "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 9646 PTPN13 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 9650 PTPN2 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 9650 PTPN2 "Ulcerative colitis" MONDO_0005101 "Disgenet " 9652 PTPN22 "Addisons Disease" MONDO_0100480 "Disgenet " 9652 PTPN22 "Progressive systemic sclerosis" MONDO_0005100 "Disgenet " 9652 PTPN22 "Autoimmune Thyroiditides" MONDO_0007699 "Disgenet " 9652 PTPN22 Vitiligo MONDO_0008661 "Disgenet " 9652 PTPN22 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 9652 PTPN22 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 9652 PTPN22 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 9652 PTPN22 "GRAVES DISEASE" MONDO_0005364 "Disgenet " 9652 PTPN22 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 9652 PTPN22 "Granulomatosis, Wegener" MONDO_0012105 "Disgenet " 9652 PTPN22 "Autoimmune Thrombocytopenic Purpuras" MONDO_0008558 "Disgenet " 9652 PTPN22 "Alopecia Areata" MONDO_0005340 "Disgenet " 9652 PTPN22 "Behcet Syndrome" MONDO_0007191 "Disgenet " 9652 PTPN22 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 9652 PTPN22 Endometrioses MONDO_0005133 "Disgenet " 9652 PTPN22 "Arthritic Psoriasis" MONDO_0011849 "Disgenet " 9652 PTPN22 "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 9652 PTPN22 "Tuberculosis, Pulmonary" MONDO_0957462 "Disgenet " 9652 PTPN22 Hypothyroidism MONDO_0005420 "Disgenet " 9652 PTPN22 "Arteritides, Giant Cell" MONDO_0008538 "Disgenet " 9652 PTPN22 Psoriases MONDO_0005083 "Disgenet " 9652 PTPN22 "Myasthenia Gravis" MONDO_0009688 "Disgenet " 9652 PTPN22 "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 9656 PTPN4 "Childhood autism" MONDO_0005260 "Disgenet " 9657 PTPN5 Schizophrenias MONDO_0005090 "Disgenet " 966 BBS1 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 966 BBS1 "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 966 BBS1 "BBS1-related ciliopathy" MONDO:1040043 "ClinGen " 966 BBS1 BBS1 MONDO_0008854 "Disgenet " 966 BBS1 Ciliopathies MONDO_0005308 "Disgenet " 9664 PTPRA Schizophrenias MONDO_0005090 "Disgenet " 9665 PTPRB Glioblastoma MONDO_0018177 "Disgenet " 9665 PTPRB Angiosarcomas MONDO_0016982 "Disgenet " 9666 PTPRC "Deficiency Syndrome, Immunological" MONDO_0021094 "Disgenet " 9666 PTPRC "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 9666 PTPRC "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9666 PTPRC "immunodeficiency 104" MONDO:0012163 "ClinGen " 9666 PTPRC "Cancer, Breast" MONDO_0007254 "Disgenet " 9666 PTPRC "Multiple Sclerosis" MONDO_0005301 "Disgenet " 9666 PTPRC "Combined Immunodeficiencies, Severe" MONDO_0015974 "Disgenet " 9668 PTPRD "Restless legs syndrome" MONDO_0005391 "Disgenet " 9668 PTPRD "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 9668 PTPRD "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 9668 PTPRD "Breast Neoplasms" MONDO_0021100 "Disgenet " 9668 PTPRD "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 9668 PTPRD "Diabetes Mellitus" MONDO_0005015 "Disgenet " 9668 PTPRD CRC MONDO_0005335 "Disgenet " 967 BBS2 RP74 MONDO_0014692 "Disgenet " 967 BBS2 Obesity MONDO_0019182 "Disgenet " 967 BBS2 "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 967 BBS2 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 967 BBS2 Ciliopathies MONDO_0005308 "Disgenet " 967 BBS2 "Bardet-Biedl syndrome 2" MONDO_0014432 "Disgenet " 967 BBS2 "BBS2-related ciliopathy" MONDO:1040048 "ClinGen " 9671 PTPRG "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 9673 PTPRJ "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 9673 PTPRJ "Malignant neoplasm of colon" MONDO_0021063 "Disgenet " 9673 PTPRJ Thrombocytopenia MONDO_0002049 "Disgenet " 9673 PTPRJ "thrombocytopenia 10" MONDO:0957578 "ClinGen " 9673 PTPRJ "hereditary nonpolyposis colon cancer" MONDO:0018630 "ClinGen " 9673 PTPRJ "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 9674 PTPRK Melanoma MONDO_0005105 "Disgenet " 9677 PTPRN2 "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 9679 PTPRQ "Hearing Loss, Sensorineural" MONDO_0020678 "Disgenet " 9679 PTPRQ Hypoacusis MONDO_0005365 "Disgenet " 9679 PTPRQ "DEAFNESS, AUTOSOMAL DOMINANT 73" MONDO_0033260 "Disgenet " 9679 PTPRQ DFNB84 MONDO_0013249 "Disgenet " 9679 PTPRQ "hearing loss, autosomal recessive" MONDO:0019588 "ClinGen " 9681 PTPRS CRC MONDO_0005335 "Disgenet " 9685 PTPRZ1 Schizophrenias MONDO_0005090 "Disgenet " 9688 CAVIN1 lipodystrophy MONDO:0006573 "ClinGen " 9688 CAVIN1 "Cancer, Breast" MONDO_0007254 "Disgenet " 9688 CAVIN1 CGL4 MONDO_0013225 "Disgenet " 9688 CAVIN1 "Familial generalized lipodystrophy" MONDO_0006536 "Disgenet " 9688 CAVIN1 Lipodystrophies MONDO_0006573 "Disgenet " 969 BBS4 "BBS4-related ciliopathy" MONDO:1040044 "ClinGen " 969 BBS4 Obesity MONDO_0019182 "Disgenet " 969 BBS4 "Bardet-Biedl syndrome 4" MONDO_0014433 "Disgenet " 969 BBS4 "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 9690 PTTG1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9690 PTTG1 Psoriases MONDO_0005083 "Disgenet " 9692 PTX3 "invasive aspergillosis" MONDO_0000240 "Disgenet " 9692 PTX3 "Pulmonary Fibrosis" MONDO_0002771 "Disgenet " 9692 PTX3 "Cystic Fibrosis" MONDO_0009061 "Disgenet " 970 BBS5 "BARDET-BIEDL SYNDROME 5" MONDO_0014434 "Disgenet " 970 BBS5 Ciliopathies MONDO_0005308 "Disgenet " 970 BBS5 "Syndrome, Bardet-Biedl" MONDO_0015229 "Disgenet " 970 BBS5 "BBS5-related ciliopathy" MONDO:1040047 "ClinGen " 9701 PURA "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 9701 PURA "Severe neonatal hypotonia, seizures, encephalopathy syndrome due to 5q31.3 microdeletion" MONDO_0017811 "Disgenet " 9701 PURA NEDRIHF MONDO_0014512 "Disgenet " 9701 PURA "PURA-related neurodevelopmental disorder" "Disgenet " 9701 PURA Epilepsies MONDO_0005027 "Disgenet " 9701 PURA "Global developmental delay" "Disgenet " 9701 PURA "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 9701 PURA "Neonatal hypotonia" "Disgenet " 9701 PURA "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 9704 PVALB "Bipolar Disorders" MONDO_0004985 "Disgenet " 9704 PVALB "Renal cell carcinoma" MONDO_0005549 "Disgenet " 9704 PVALB "Oxyphilic adenoma" MONDO_0003424 "Disgenet " 9704 PVALB Schizophrenias MONDO_0005090 "Disgenet " 9705 PVR "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 9705 PVR Poliomyelitis MONDO_0017373 "Disgenet " 9706 NECTIN1 "Ectodermal Dysplasias" MONDO_0019287 "Disgenet " 9706 NECTIN1 ED4 MONDO_0009151 "Disgenet " 9706 NECTIN1 "Herpes Simplex" MONDO_0004609 "Disgenet " 9706 NECTIN1 "Cleft Palate" MONDO_0016064 "Disgenet " 9706 NECTIN1 "Cleft Lip" MONDO_0004747 "Disgenet " 9706 NECTIN1 "Cleft palate with cleft lip" MONDO_0016044 "Disgenet " 9706 NECTIN1 "cleft lip/palate-ectodermal dysplasia syndrome" MONDO:0009151 "ClinGen " 9707 NECTIN2 "Cognitive Dysfunction" "Disgenet " 9707 NECTIN2 "Multiple Sclerosis" MONDO_0005301 "Disgenet " 9707 NECTIN2 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 9707 NECTIN2 "Alzheimer Disease" MONDO_0012630 "Disgenet " 9707 NECTIN2 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 9707 NECTIN2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 9707 NECTIN2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9707 NECTIN2 "Lymphoma, Peripheral T-Cell" MONDO_0004964 "Disgenet " 9709 PVT1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 971 BCAR1 "Cancer, Breast" MONDO_0007254 "Disgenet " 971 BCAR1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 971 BCAR1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 9713 PEX19 "Zellweger Syndrome" MONDO_0019609 "Disgenet " 9713 PEX19 "peroxisome biogenesis disorder" MONDO:0019234 "ClinGen " 9713 PEX19 "Disorders of peroxisome biogenesis" MONDO_0019234 "Disgenet " 9717 PEX2 "Adrenoleukodystrophies, Neonatal" MONDO_0019053 "Disgenet " 9717 PEX2 "Peroxisomal Disorder" MONDO_0019053 "Disgenet " 9717 PEX2 "Infantile Refsums Disease" MONDO_0011101 "Disgenet " 9717 PEX2 "Disorders of peroxisome biogenesis" MONDO_0019234 "Disgenet " 9717 PEX2 "Zellweger Syndrome" MONDO_0019609 "Disgenet " 9717 PEX2 "peroxisome biogenesis disorder" MONDO:0019234 "ClinGen " 9717 PEX2 "PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)" MONDO_0013932 "Disgenet " 9718 PXN "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 9719 PEX5 "RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5" MONDO_0014743 "Disgenet " 9719 PEX5 "peroxisome biogenesis disorder" MONDO:0019234 "ClinGen " 9719 PEX5 PBD2B MONDO_0008736 "Disgenet " 9719 PEX5 "Chondrodysplasia Punctata, Rhizomelic" MONDO_0015776 "Disgenet " 9719 PEX5 "Disorders of peroxisome biogenesis" MONDO_0019234 "Disgenet " 9719 PEX5 "Zellweger Syndrome" MONDO_0019609 "Disgenet " 9721 PYCR1 "CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB" MONDO_0013051 "Disgenet " 9721 PYCR1 "autosomal recessive cutis laxa type 2B" MONDO:0013051 "ClinGen " 9721 PYCR1 "Cutis Laxa" MONDO_0007411 "Disgenet " 9721 PYCR1 ARCL3B MONDO_0013755 "Disgenet " 9722 ALDH18A1 "CUTIS LAXA, AUTOSOMAL DOMINANT 3" MONDO_0014706 "Disgenet " 9722 ALDH18A1 "CATARACTS WITH MOTOR NEURONOPATHY, SHORT STATURE, AND SKELETAL ABNORMALITIES" MONDO_0011006 "Disgenet " 9722 ALDH18A1 "P5CS deficiency" MONDO:0100126 "ClinGen " 9722 ALDH18A1 "Cutis Laxa, Autosomal Dominant" MONDO_0019571 "Disgenet " 9722 ALDH18A1 ARCL3A MONDO_0009053 "Disgenet " 9722 ALDH18A1 "Hereditary Spastic Paraplegias" MONDO_0012787 "Disgenet " 9722 ALDH18A1 "Cutis Laxa" MONDO_0007411 "Disgenet " 9722 ALDH18A1 "SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE" MONDO_0014702 "Disgenet " 9725 PYGL "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9725 PYGL "Diseases, Glycogen Storage" MONDO_0010362 "Disgenet " 9725 PYGL "Glycogen Storage Disease Type VI" MONDO_0009294 "Disgenet " 9725 PYGL "glycogen storage disease VI" MONDO:0009294 "ClinGen " 9726 PYGM "glycogen storage disease V" MONDO:0009293 "ClinGen " 9726 PYGM "Diseases, Glycogen Storage" MONDO_0010362 "Disgenet " 9726 PYGM "Deficiencies, Muscle Phosphorylase" MONDO_0009293 "Disgenet " 9726 PYGM Myopathy MONDO_0003939 "Disgenet " 973 BCAR3 "Breast Neoplasms" MONDO_0021100 "Disgenet " 975 BCAS2 "Cancer, Breast" MONDO_0007254 "Disgenet " 9750 PZP CRC MONDO_0005335 "Disgenet " 9750 PZP "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9752 QDPR "dihydropteridine reductase deficiency" MONDO:0009862 "ClinGen " 9752 QDPR "Phenylketonuria II" MONDO_0009861 "Disgenet " 9752 QDPR "tetrahydrobiopterin deficiency" MONDO_0009861 "Disgenet " 9752 QDPR Phenylketonuria MONDO_0009861 "Disgenet " 9753 QPCT Melanoma MONDO_0005105 "Disgenet " 9766 RAB27A "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 9766 RAB27A "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 9766 RAB27A "Griscelli syndrome type 2" MONDO:0011872 "ClinGen " 9766 RAB27A "hypopigmentation immunodeficiency disease" MONDO_0018306 "Disgenet " 9766 RAB27A "GRISCELLI SYNDROME, TYPE 2" MONDO_0011872 "Disgenet " 9767 RAB27B "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 9767 RAB27B "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 9768 RAB28 "Retinal dystrophy" MONDO_0019118 "Disgenet " 9768 RAB28 "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 9768 RAB28 "RAB28-related retinopathy" MONDO:0100448 "ClinGen " 977 BCAT2 "hypervalinemia and hyperleucine-isoleucinemia" MONDO:0100058 "ClinGen " 977 BCAT2 "Branched Chain Ketoaciduria" MONDO_0023691 "Disgenet " 977 BCAT2 "BRANCHED-CHAIN AMINOTRANSFERASE DEFICIENCY" MONDO_0100058 "Disgenet " 9772 RAB32 "Parkinson Disease" MONDO_0014796 "Disgenet " 9787 KIF20A "congenital heart disease" MONDO:0005453 "ClinGen " 9787 KIF20A "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9801 RAC1 "Heart failure" MONDO_0005252 "Disgenet " 9801 RAC1 "Congestive heart failure" MONDO_0005252 "Disgenet " 9801 RAC1 "Malignant melanoma of skin" MONDO_0005012 "Disgenet " 9801 RAC1 "cardiac toxicity" "Disgenet " 9801 RAC1 Depression MONDO_0002050 "Disgenet " 9801 RAC1 "Global developmental delay" "Disgenet " 9801 RAC1 "SQUAMOUS CELL CARCINOMA, HEAD AND NECK" MONDO_0010150 "Disgenet " 9801 RAC1 "Depressive neurosis" MONDO_0002050 "Disgenet " 9801 RAC1 "syndromic intellectual disability" MONDO:0000508 "ClinGen " 9801 RAC1 MRD48 MONDO_0030913 "Disgenet " 9801 RAC1 "Diabetes Mellitus" MONDO_0005015 "Disgenet " 9801 RAC1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 9801 RAC1 Melanoma MONDO_0005105 "Disgenet " 9801 RAC1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9801 RAC1 CRC MONDO_0005335 "Disgenet " 9802 RAC2 IMD73B MONDO_0033554 "Disgenet " 9802 RAC2 "Combined immunodeficiencies" MONDO_0015131 "Disgenet " 9802 RAC2 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 9802 RAC2 "Deficiency Syndrome, Immunological" MONDO_0021094 "Disgenet " 9802 RAC2 "Combined Immunodeficiencies, Severe" MONDO_0015974 "Disgenet " 9802 RAC2 "Cancer, Breast" MONDO_0007254 "Disgenet " 9802 RAC2 "Neutrophil Immunodeficiency Syndrome" MONDO_0011988 "Disgenet " 9802 RAC2 "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia" MONDO:0033554 "ClinGen " 9802 RAC2 "immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia" MONDO:0033555 "ClinGen " 9802 RAC2 "neutrophil immunodeficiency syndrome" MONDO:0011988 "ClinGen " 9802 RAC2 "IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA" MONDO_0033555 "Disgenet " 9803 RAC3 "NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES" MONDO_0032820 "Disgenet " 9804 RACGAP1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9811 RAD21 CDLS4 MONDO_0013864 "Disgenet " 9811 RAD21 "MUNGAN SYNDROME" MONDO_0012657 "Disgenet " 9811 RAD21 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9811 RAD21 "De Lange Syndrome" MONDO_0016033 "Disgenet " 9811 RAD21 "Giedion Langer Syndrome" MONDO_0007874 "Disgenet " 9811 RAD21 "Endometrial Neoplasm" MONDO_0011962 "Disgenet " 9811 RAD21 Endometrium MONDO_0011962 "Disgenet " 9811 RAD21 "Cornelia de Lange syndrome" MONDO:0016033 "ClinGen " 9813 RAD23B "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9816 RAD50 "Hereditary Breast and Ovarian Cancer Syndrome" MONDO_0003582 "Disgenet " 9816 RAD50 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9816 RAD50 "NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER" MONDO_0013118 "Disgenet " 9816 RAD50 "Cancer, Breast" MONDO_0007254 "Disgenet " 9816 RAD50 "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 9816 RAD50 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 9816 RAD50 Asthma MONDO_0004979 "Disgenet " 9816 RAD50 "familial cancer of breast" MONDO_0016419 "Disgenet " 9816 RAD50 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 9816 RAD50 "hereditary breast carcinoma" MONDO:0016419 "ClinGen " 9816 RAD50 "familial ovarian cancer" MONDO:0016248 "ClinGen " 9817 RAD51 "FANCONI ANEMIA, COMPLEMENTATION GROUP R" MONDO_0014986 "Disgenet " 9817 RAD51 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 9817 RAD51 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 9817 RAD51 "Triple-Negative Breast Cancers" MONDO_0005494 "Disgenet " 9817 RAD51 "Fanconi Anemia" MONDO_0019391 "Disgenet " 9817 RAD51 "Head and Neck Neoplasms" MONDO_0005586 "Disgenet " 9817 RAD51 "familial cancer of breast" MONDO_0016419 "Disgenet " 9817 RAD51 "Breast Neoplasms" MONDO_0021100 "Disgenet " 9817 RAD51 "Cancer, Breast" MONDO_0007254 "Disgenet " 9820 RAD51C "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 9820 RAD51C "Hereditary Breast and Ovarian Cancer Syndrome" MONDO_0003582 "Disgenet " 9820 RAD51C "RAD51C-related cancer predisposition" MONDO:0700273 "ClinGen " 9820 RAD51C "Fanconi anemia complementation group O" MONDO:0013248 "ClinGen " 9820 RAD51C "Familial Malignant Neoplasm" "Disgenet " 9820 RAD51C "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 9820 RAD51C "familial cancer of breast" MONDO_0016419 "Disgenet " 9820 RAD51C "Cancer, Breast" MONDO_0007254 "Disgenet " 9820 RAD51C FANCO MONDO_0013248 "Disgenet " 9820 RAD51C "Cancer, Ovarian" MONDO_0008170 "Disgenet " 9820 RAD51C "Breast Neoplasms" MONDO_0021100 "Disgenet " 9820 RAD51C "Fanconi Anemia" MONDO_0019391 "Disgenet " 9820 RAD51C "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 9822 RAD51B "Breast Neoplasms" MONDO_0021100 "Disgenet " 9823 RAD51D "ovarian epithelial cancer" MONDO_0005140 "Disgenet " 9823 RAD51D "Cancer, Breast" MONDO_0007254 "Disgenet " 9823 RAD51D "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 9823 RAD51D "RAD51D-related cancer predisposition" MONDO:0700274 "ClinGen " 9823 RAD51D "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 9823 RAD51D "familial cancer of breast" MONDO_0016419 "Disgenet " 9823 RAD51D "Hereditary Breast and Ovarian Cancer Syndrome" MONDO_0003582 "Disgenet " 9824 RAD52 "Lung Neoplasm" MONDO_0002732 "Disgenet " 9824 RAD52 "squamous cell carcinoma of lung (diagnosis)" MONDO_0005097 "Disgenet " 9824 RAD52 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9824 RAD52 "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 9829 RAF1 Melanoma MONDO_0005105 "Disgenet " 9829 RAF1 "CARDIOMYOPATHY, DILATED, 1NN" MONDO_0014396 "Disgenet " 9829 RAF1 "LEOPARD SYNDROME 2" MONDO_0012691 "Disgenet " 9829 RAF1 "Noonan Syndrome" MONDO_0018997 "Disgenet " 9829 RAF1 "multiple lentigines syndrome" MONDO_0007893 "Disgenet " 9829 RAF1 "Noonan syndrome with multiple lentigines" MONDO:0007893 "ClinGen " 9829 RAF1 "cardiofaciocutaneous syndrome" MONDO:0015280 "ClinGen " 9829 RAF1 "Costello syndrome" MONDO:0009026 "ClinGen " 9829 RAF1 "Noonan syndrome" MONDO:0018997 "ClinGen " 9829 RAF1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9829 RAF1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 9829 RAF1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 9829 RAF1 "Hypertrophic cardiomyopathy" MONDO_0005045 "Disgenet " 9829 RAF1 "Liver Neoplasm" MONDO_0002691 "Disgenet " 9829 RAF1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 9829 RAF1 Gliomas MONDO_0021042 "Disgenet " 9829 RAF1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 9829 RAF1 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 9829 RAF1 "Cardiomyopathies, Dilated" MONDO_0011482 "Disgenet " 9829 RAF1 "COSTELLO SYNDROME" MONDO_0009026 "Disgenet " 9829 RAF1 "Cardiofaciocutaneous Syndrome" MONDO_0007265 "Disgenet " 9829 RAF1 NS5 MONDO_0012690 "Disgenet " 9829 RAF1 RASopathy MONDO_0021060 "Disgenet " 983 BCHE "Dystrophies, Muscular" MONDO_0015151 "Disgenet " 983 BCHE Neuroblastoma MONDO_0005072 "Disgenet " 983 BCHE "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 983 BCHE "Disease, Ischemic Heart" MONDO_0024644 "Disgenet " 983 BCHE Hypertriglyceridemia MONDO_0005347 "Disgenet " 983 BCHE "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 983 BCHE "Acylcholine acylhydrolase deficiency" MONDO_0015270 "Disgenet " 983 BCHE "Alzheimer Disease" MONDO_0012630 "Disgenet " 983 BCHE "Multiple Sclerosis" MONDO_0005301 "Disgenet " 983 BCHE "Pseudocholinesterase deficiency" MONDO_0015270 "Disgenet " 983 BCHE "Breast Neoplasms" MONDO_0021100 "Disgenet " 983 BCHE "Bipolar Disorders" MONDO_0004985 "Disgenet " 983 BCHE "Organophosphate poisoning" "Disgenet " 983 BCHE neurotoxicity MONDO_0005527 "Disgenet " 983 BCHE Obesity MONDO_0019182 "Disgenet " 9831 RAG1 "recombinase activating gene 1 deficiency" MONDO:0000572 "ClinGen " 9831 RAG1 "SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE" MONDO_0011086 "Disgenet " 9831 RAG1 "COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS" MONDO_0009306 "Disgenet " 9831 RAG1 "OMENN SYNDROME" MONDO_0015974 "Disgenet " 9831 RAG1 "Combined Immunodeficiencies, Severe" MONDO_0015974 "Disgenet " 9834 RAI1 "SMITH-MAGENIS SYNDROME" MONDO_0008434 "Disgenet " 9834 RAI1 "Smith-Magenis syndrome" MONDO:0008434 "ClinGen " 9834 RAI1 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 9834 RAI1 Schizophrenias MONDO_0005090 "Disgenet " 9834 RAI1 "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 9834 RAI1 "Abnormalities, Craniofacial" "Disgenet " 9834 RAI1 "Child Development Disorder" MONDO_0005287 "Disgenet " 9834 RAI1 Dyssomnias "Disgenet " 9834 RAI1 Obesity MONDO_0019182 "Disgenet " 9834 RAI1 "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 9834 RAI1 "Unspecified mental retardation" MONDO_0001071 "Disgenet " 9834 RAI1 PTLS MONDO_0012574 "Disgenet " 9835 RAI2 "congenital heart disease" MONDO:0005453 "ClinGen " 9839 RALA "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 9839 RALA "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 9841 RALBP1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9848 RANBP2 Encephalopathy MONDO_0005560 "Disgenet " 9848 RANBP2 "Inflammatory Pseudotumors" MONDO_0015798 "Disgenet " 9848 RANBP2 "Recurrent acute necrotizing encephalopathy" MONDO_0011953 "Disgenet " 9848 RANBP2 "familial acute necrotizing encephalopathy" MONDO:0011953 "ClinGen " 9848 RANBP2 "Leigh syndrome" MONDO:0009723 "ClinGen " 9854 RANGAP1 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 9857 RAP1B Thrombocytopenia MONDO_0002049 "Disgenet " 9857 RAP1B "syndromic constitutional thrombocytopenia" MONDO:0018795 "ClinGen " 9858 RAP1GAP "Cancer, Breast" MONDO_0007254 "Disgenet " 9858 RAP1GAP "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 9858 RAP1GAP Melanoma MONDO_0005105 "Disgenet " 9858 RAP1GAP "Neoplasm, Thyroid" MONDO_0015074 "Disgenet " 986 BCKDHA "Branched Chain Ketoaciduria" MONDO_0023691 "Disgenet " 986 BCKDHA "maple syrup urine disease type 1A" MONDO:0023691 "ClinGen " 9864 RARA "Acute promyelocytic leukemia" MONDO_0012883 "Disgenet " 9864 RARA Schizophrenias MONDO_0005090 "Disgenet " 9864 RARA "Phyllodes Tumor" MONDO_0015871 "Disgenet " 9864 RARA "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9864 RARA "Breast Neoplasms" MONDO_0021100 "Disgenet " 9865 RARB "Breast Neoplasms" MONDO_0021100 "Disgenet " 9865 RARB "Lung Neoplasm" MONDO_0002732 "Disgenet " 9865 RARB "microphthalmia, syndromic 12" MONDO:0014229 "ClinGen " 9865 RARB Adenocarcinoma MONDO_0004970 "Disgenet " 9865 RARB "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 9865 RARB "Cervical Neoplasm" MONDO_0021230 "Disgenet " 9865 RARB "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 9865 RARB "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 9865 RARB "MICROPHTHALMIA, SYNDROMIC 12" MONDO_0014229 "Disgenet " 9865 RARB Coloboma MONDO_0007350 "Disgenet " 9865 RARB "Head and Neck Neoplasms" MONDO_0005586 "Disgenet " 9865 RARB PMD MONDO_0011010 "Disgenet " 9865 RARB CRC MONDO_0005335 "Disgenet " 9865 RARB "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 9865 RARB "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 9865 RARB Microphthalmos MONDO_0021129 "Disgenet " 9866 RARG "Cancer, Breast" MONDO_0007254 "Disgenet " 9866 RARG "cardiac toxicity" "Disgenet " 9868 RARRES2 "Glucose Intolerance" MONDO_0001076 "Disgenet " 987 BCKDHB "Branched Chain Ketoaciduria" MONDO_0023691 "Disgenet " 987 BCKDHB "maple syrup urine disease type 1B" MONDO:0023692 "ClinGen " 9870 RARS1 "LEUKODYSTROPHY, HYPOMYELINATING, 9" MONDO_0014506 "Disgenet " 9871 RASA1 "parkes weber syndrome" MONDO_0008501 "Disgenet " 9871 RASA1 "Noonan syndrome" MONDO:0018997 "ClinGen " 9871 RASA1 "Racemose haemangioma" MONDO_0001256 "Disgenet " 9871 RASA1 "Capillary Malformation-Arteriovenous Malformation" MONDO_0012016 "Disgenet " 9871 RASA1 Carcinoma MONDO_0004993 "Disgenet " 9871 RASA1 "Basal cell carcinoma" MONDO_0020804 "Disgenet " 9871 RASA1 "Hereditary hemorrhagic telangiectasia" MONDO_0019180 "Disgenet " 9871 RASA1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 9871 RASA1 "Vascular anomaly" MONDO_0024291 "Disgenet " 9871 RASA1 "Disease, Klippel-Trenaunay" MONDO_0008800 "Disgenet " 9871 RASA1 "Port Wine Stain" MONDO_0008094 "Disgenet " 9872 RASA2 "Noonan Syndrome" MONDO_0018997 "Disgenet " 9872 RASA2 "Noonan syndrome" MONDO:0018997 "ClinGen " 9872 RASA2 Melanoma MONDO_0005105 "Disgenet " 9874 RASAL2 "Cancer, Breast" MONDO_0007254 "Disgenet " 9874 RASAL2 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 9874 RASAL2 CRC MONDO_0005335 "Disgenet " 9875 RASGRF1 Nearsightedness MONDO_0001384 "Disgenet " 9878 RASGRP1 Schizophrenias MONDO_0005090 "Disgenet " 9878 RASGRP1 "SYSTEMIC LUPUS ERYTHEMATOSIS" MONDO_0007915 "Disgenet " 9878 RASGRP1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 9878 RASGRP1 "Bipolar Disorders" MONDO_0004985 "Disgenet " 9878 RASGRP1 "immunodeficiency 64" MONDO:0032803 "ClinGen " 9878 RASGRP1 IMD64 MONDO_0032803 "Disgenet " 9878 RASGRP1 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 9879 RASGRP2 "BLEEDING DISORDER, PLATELET-TYPE, 18" MONDO_0014386 "Disgenet " 9879 RASGRP2 Thrombasthenia MONDO_0014386 "Disgenet " 9879 RASGRP2 "platelet-type bleeding disorder 18" MONDO:0014386 "ClinGen " 9882 RASSF1 Mesothelioma MONDO_0005065 "Disgenet " 9882 RASSF1 "Neuroectodermal Tumor, Primitive" MONDO_0005462 "Disgenet " 9882 RASSF1 Medulloblastoma MONDO_0007959 "Disgenet " 9882 RASSF1 "Inflammatory Bowel Diseases" MONDO_0005265 "Disgenet " 9882 RASSF1 "Malignant neoplasm of cervix uteri" MONDO_0002974 "Disgenet " 9882 RASSF1 "Endometrioid carcinoma" MONDO_0002447 "Disgenet " 9882 RASSF1 "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 9882 RASSF1 "Cervical Neoplasm" MONDO_0021230 "Disgenet " 9882 RASSF1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9882 RASSF1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 9882 RASSF1 "CARCINOMA OF ENDOMETRIUM" MONDO_0021251 "Disgenet " 9882 RASSF1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 9882 RASSF1 "Cancer, Breast" MONDO_0007254 "Disgenet " 9882 RASSF1 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 9882 RASSF1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 9882 RASSF1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 9882 RASSF1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 9882 RASSF1 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 9882 RASSF1 Adenocarcinoma MONDO_0004970 "Disgenet " 9882 RASSF1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 9883 RASSF2 CRC MONDO_0005335 "Disgenet " 9884 RB1 "Trilateral Retinoblastoma" MONDO_0003073 "Disgenet " 9884 RB1 "WELL DIFFER OLIGODENDROGLIOMA" MONDO_0016695 "Disgenet " 9884 RB1 "Adrenal cortical carcinoma" MONDO_0006639 "Disgenet " 9884 RB1 "Non-hereditary retinoblastoma" MONDO_0018161 "Disgenet " 9884 RB1 "Oral Cancer" MONDO_0023644 "Disgenet " 9884 RB1 "Squamous cell carcinoma of esophagus" MONDO_0005580 "Disgenet " 9884 RB1 Medulloblastoma MONDO_0007959 "Disgenet " 9884 RB1 retinoblastoma MONDO:0008380 "ClinGen " 9884 RB1 "Osteogenic Sarcomas" MONDO_0002629 "Disgenet " 9884 RB1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 9884 RB1 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 9884 RB1 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 9884 RB1 "Familial Retinoblastomas" MONDO_0008380 "Disgenet " 9884 RB1 "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 9884 RB1 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 9884 RB1 ALL MONDO_0004967 "Disgenet " 9884 RB1 GIST MONDO_0011719 "Disgenet " 9884 RB1 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 9884 RB1 "Osteosarcoma of Bone" MONDO_0002629 "Disgenet " 9884 RB1 "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 9884 RB1 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 9884 RB1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9884 RB1 Carcinoma MONDO_0004993 "Disgenet " 9884 RB1 "Squamous cell carcinoma" MONDO_0005096 "Disgenet " 9884 RB1 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 9884 RB1 Retinoblastoma MONDO_0008380 "Disgenet " 9884 RB1 Epithelioma MONDO_0004993 "Disgenet " 9884 RB1 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 9884 RB1 Glioblastoma MONDO_0018177 "Disgenet " 9884 RB1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 9886 KDM5A "congenital heart disease" MONDO:0005453 "ClinGen " 9886 KDM5A "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 9886 KDM5A "Ankylosing spondylitis" MONDO_0005306 "Disgenet " 989 BCL10 "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 989 BCL10 TGCT MONDO_0010108 "Disgenet " 989 BCL10 "Lymphoma, MALT" MONDO_0007650 "Disgenet " 989 BCL10 "Mesothelioma, malignant" MONDO_0006292 "Disgenet " 989 BCL10 "immunodeficiency 37" MONDO:0014491 "ClinGen " 989 BCL10 "Familial primary gastric lymphoma" MONDO_0007650 "Disgenet " 989 BCL10 "IMMUNODEFICIENCY 37" MONDO_0014491 "Disgenet " 989 BCL10 "Brill Symmers Disease" MONDO_0018906 "Disgenet " 9891 RBBP8 "SECKEL SYNDROME 2" MONDO_0011715 "Disgenet " 9891 RBBP8 "microcephaly-digital anomalies syndrome" MONDO_0009622 "Disgenet " 9891 RBBP8 "Seckel syndrome" MONDO_0019342 "Disgenet " 9894 RBL2 "Neoplasm, Ovarian" MONDO_0021068 "Disgenet " 9896 RBM10 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 9896 RBM10 CRC MONDO_0005335 "Disgenet " 9896 RBM10 TARPS MONDO_0010711 "Disgenet " 9896 RBM10 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 990 BCL2 Carcinoma MONDO_0004993 "Disgenet " 990 BCL2 "Renal cell carcinoma" MONDO_0005549 "Disgenet " 990 BCL2 Adenoma MONDO_0004972 "Disgenet " 990 BCL2 "Damage, Reperfusion" MONDO_0005203 "Disgenet " 990 BCL2 "Dysfunction, Erectile" MONDO_0005362 "Disgenet " 990 BCL2 Adenocarcinoma MONDO_0004970 "Disgenet " 990 BCL2 "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 990 BCL2 Schizophrenias MONDO_0005090 "Disgenet " 990 BCL2 "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 990 BCL2 Epithelioma MONDO_0004993 "Disgenet " 990 BCL2 "Bipolar I disorder" MONDO_0001866 "Disgenet " 990 BCL2 "Bipolar Disorders" MONDO_0004985 "Disgenet " 990 BCL2 "High-grade B-cell lymphoma, with MYC and BCL2 and/or BCL6 rearrangements" MONDO_0018813 "Disgenet " 990 BCL2 Angioendotheliomatosis MONDO_0020324 "Disgenet " 990 BCL2 "Esophageal Neoplasm" MONDO_0007576 "Disgenet " 990 BCL2 "Head and Neck Neoplasms" MONDO_0005586 "Disgenet " 990 BCL2 "Ovary Syndrome, Polycystic" MONDO_0008487 "Disgenet " 990 BCL2 "Alzheimer Disease" MONDO_0012630 "Disgenet " 990 BCL2 "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 990 BCL2 "small cell carcinoma of lung" MONDO_0008433 "Disgenet " 990 BCL2 Asthma MONDO_0004979 "Disgenet " 990 BCL2 "Transitional cell neoplasm (morphologic abnormality)" MONDO_0037254 "Disgenet " 990 BCL2 "Depressive neurosis" MONDO_0002050 "Disgenet " 990 BCL2 "Childhood autism" MONDO_0005260 "Disgenet " 990 BCL2 "High blood pressure" MONDO_0005044 "Disgenet " 990 BCL2 "Fetal Alcohol Syndrome" MONDO_0016011 "Disgenet " 990 BCL2 "Intestinal Neoplasm" MONDO_0005814 "Disgenet " 990 BCL2 "Gallbladder Neoplasm" MONDO_0005411 "Disgenet " 990 BCL2 "Fetal Alcohol Spectrum Disorder" MONDO_0000408 "Disgenet " 990 BCL2 "Diffuse Histiocytic Lymphoma" MONDO_0018905 "Disgenet " 990 BCL2 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 990 BCL2 "Chronic lymphocytic leukemia" MONDO_0004948 "Disgenet " 990 BCL2 "Neoplasm, Prostatic" MONDO_0008315 "Disgenet " 990 BCL2 "Brill Symmers Disease" MONDO_0018906 "Disgenet " 990 BCL2 "Lymphoma, Non Hodgkin's" MONDO_0018908 "Disgenet " 990 BCL2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 990 BCL2 "Multiple Myeloma" MONDO_0009693 "Disgenet " 990 BCL2 "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 990 BCL2 "Neoplasm, Bladder" MONDO_0001187 "Disgenet " 990 BCL2 "Malignant neoplasm of prostate" MONDO_0023122 "Disgenet " 990 BCL2 "Malignant neoplasm of bladder" MONDO_0001187 "Disgenet " 990 BCL2 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 990 BCL2 "Plasma Cell Tumors" MONDO_0005615 "Disgenet " 990 BCL2 "Malignant lymphoma, lymphocytic, poorly differentiated, nodular" MONDO_0018906 "Disgenet " 990 BCL2 "Lymphoma, Large-Cell, Follicular" MONDO_0018906 "Disgenet " 990 BCL2 Synoviomas MONDO_0010434 "Disgenet " 990 BCL2 "Mesenchymal chondrosarcoma" MONDO_0006853 "Disgenet " 990 BCL2 "Leukemia, T Cell" MONDO_0004963 "Disgenet " 9905 RBM8A "thrombocytopenia-absent radius syndrome" MONDO:0010121 "ClinGen " 9905 RBM8A "THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME" MONDO_0008800 "Disgenet " 9906 RBFOX2 "Hypoplastic left heart syndrome" MONDO_0004933 "Disgenet " 9906 RBFOX2 "congenital heart disease" MONDO:0005453 "ClinGen " 991 BCL2A1 "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 991 BCL2A1 "Breast Neoplasms" MONDO_0021100 "Disgenet " 9910 RBMX GUST MONDO_0010661 "Disgenet " 9919 RBP1 Carcinoma MONDO_0004993 "Disgenet " 992 BCL2L1 Adenoma MONDO_0004972 "Disgenet " 992 BCL2L1 Carcinoma MONDO_0004993 "Disgenet " 992 BCL2L1 "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 992 BCL2L1 "CARCINOMA OF PROSTATE" MONDO_0005159 "Disgenet " 992 BCL2L1 "Multiple Myeloma" MONDO_0009693 "Disgenet " 992 BCL2L1 ALL MONDO_0004967 "Disgenet " 992 BCL2L1 "Chronic myeloid leukemia" MONDO_0011996 "Disgenet " 992 BCL2L1 "Cancer, Breast" MONDO_0007254 "Disgenet " 992 BCL2L1 "Liver cell carcinoma" MONDO_0007256 "Disgenet " 992 BCL2L1 "Lung Neoplasm" MONDO_0002732 "Disgenet " 992 BCL2L1 "Diseases, Liver" MONDO_0005154 "Disgenet " 992 BCL2L1 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 992 BCL2L1 Epithelioma MONDO_0004993 "Disgenet " 992 BCL2L1 "Transitional cell carcinoma" MONDO_0006474 "Disgenet " 992 BCL2L1 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 992 BCL2L1 "Dysfunction, Erectile" MONDO_0005362 "Disgenet " 992 BCL2L1 "Head and Neck Neoplasms" MONDO_0005586 "Disgenet " 9921 RBP3 Uveitides MONDO_0020283 "Disgenet " 9921 RBP3 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 9921 RBP3 "Autosomal recessive retinitis pigmentosa" "Disgenet " 9921 RBP3 "RETINITIS PIGMENTOSA 66" MONDO_0014093 "Disgenet " 9922 RBP4 "Arterioscleroses, Coronary" MONDO_0021661 "Disgenet " 9922 RBP4 "Ovary Syndrome, Polycystic" MONDO_0008487 "Disgenet " 9922 RBP4 "Congestive heart failure" MONDO_0005252 "Disgenet " 9922 RBP4 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 9922 RBP4 "Breast Neoplasms" MONDO_0021100 "Disgenet " 9922 RBP4 Nephropathy MONDO_0005240 "Disgenet " 9922 RBP4 "Heart failure" MONDO_0005252 "Disgenet " 9922 RBP4 "Deficiencies, Vitamin A" MONDO_0007016 "Disgenet " 9922 RBP4 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 9922 RBP4 "Coronary Disease" MONDO_0005010 "Disgenet " 993 BCL2L10 "carcinoma of stomach (diagnosis)" MONDO_0004950 "Disgenet " 993 BCL2L10 "Multiple Myeloma" MONDO_0009693 "Disgenet " 9936 OPN1LW "Color Blindness, Red" MONDO_0010565 "Disgenet " 9936 OPN1LW CBBM MONDO_0010563 "Disgenet " 994 BCL2L11 "Adult-Onset Diabetes Mellitus" MONDO_0005148 "Disgenet " 9940 RDH5 Nearsightedness MONDO_0001384 "Disgenet " 9940 RDH5 "RETINITIS PUNCTATA ALBESCENS" MONDO_0018877 "Disgenet " 9940 RDH5 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 9940 RDH5 "RDH5-related retinopathy" MONDO:0100443 "ClinGen " 9940 RDH5 "FUNDUS ALBIPUNCTATUS" MONDO_0007639 "Disgenet " 9940 RDH5 "Night Blindness" MONDO_0004588 "Disgenet " 9942 PRPH2 "Patterned dystrophy of retinal pigment epithelium" MONDO_0018973 "Disgenet " 9942 PRPH2 "FUNDUS FLAVIMACULATUS" MONDO_0019353 "Disgenet " 9942 PRPH2 "Retinal dystrophy" MONDO_0019118 "Disgenet " 9942 PRPH2 "vitelliform dystrophy (diagnosis)" MONDO_0000390 "Disgenet " 9942 PRPH2 "Degeneration, Macular" MONDO_0003004 "Disgenet " 9942 PRPH2 "RETINITIS PIGMENTOSA 7" MONDO_0011974 "Disgenet " 9942 PRPH2 "MACULAR DYSTROPHY, PATTERNED, 1" MONDO_0008210 "Disgenet " 9942 PRPH2 "Butterfly-shaped pattern dystrophy" MONDO_0100466 "Disgenet " 9942 PRPH2 "Hereditary retinal dystrophy" MONDO_0013274 "Disgenet " 9942 PRPH2 BMD MONDO_0000390 "Disgenet " 9942 PRPH2 CACD MONDO_0008982 "Disgenet " 9942 PRPH2 "Leber congenital amaurosis" MONDO_0018998 "Disgenet " 9942 PRPH2 AOFMD MONDO_0024561 "Disgenet " 9942 PRPH2 "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 9942 PRPH2 "FUNDUS ALBIPUNCTATUS" MONDO_0007639 "Disgenet " 9942 PRPH2 "dystrophy cone" MONDO_0000455 "Disgenet " 9942 PRPH2 "Usher syndrome" MONDO_0019501 "Disgenet " 9942 PRPH2 "RETINITIS PUNCTATA ALBESCENS" MONDO_0018877 "Disgenet " 9942 PRPH2 "Cone-rod dystrophy" MONDO_0015993 "Disgenet " 9942 PRPH2 "Macular dystrophy" "Disgenet " 9942 PRPH2 "PRPH2-related retinopathy" MONDO:1040055 "ClinGen " 9944 RDX "nonsyndromic genetic hearing loss" MONDO:0019497 "ClinGen " 9944 RDX DFNB24 MONDO_0012602 "Disgenet " 9944 RDX "Bile Duct Obstructions" MONDO_0001751 "Disgenet " 9948 RECQL "familial cancer of breast" MONDO_0016419 "Disgenet " 9948 RECQL "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9948 RECQL "Breast Neoplasms" MONDO_0021100 "Disgenet " 9948 RECQL "Neoplasm, Pancreatic" MONDO_0009831 "Disgenet " 9948 RECQL "RECON PROGEROID SYNDROME" MONDO_0957266 "Disgenet " 9948 RECQL "hereditary breast carcinoma" MONDO:0016419 "ClinGen " 9948 RECQL "familial ovarian cancer" MONDO:0016248 "ClinGen " 9949 RECQL4 "congenital heart disease" MONDO:0005453 "ClinGen " 9949 RECQL4 "Rothmund-Thomson syndrome" MONDO:0010002 "ClinGen " 9949 RECQL4 BGS MONDO_0009039 "Disgenet " 9949 RECQL4 "Rothmund Thomson Syndrome" MONDO_0013755 "Disgenet " 9949 RECQL4 "RAPADILINO SYNDROME" MONDO_0009955 "Disgenet " 9949 RECQL4 "Cancer, Breast" MONDO_0007254 "Disgenet " 9949 RECQL4 "Cancer, Ovarian" MONDO_0008170 "Disgenet " 9951 REG1A "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 9951 REG1A "Diabetes Mellitus, Insulin-Dependent" MONDO_0013078 "Disgenet " 9954 REL "Rheumatoid arthritis" MONDO_0008383 "Disgenet " 9954 REL "Hodgkin's granuloma" MONDO_0004952 "Disgenet " 9954 REL Psoriases MONDO_0005083 "Disgenet " 9954 REL "immunodeficiency 92" MONDO:0030498 "ClinGen " 9955 RELA "combined immunodeficiency due to RELA haploinsufficiency" MONDO:0035694 "ClinGen " 9955 RELA Schizophrenias MONDO_0005090 "Disgenet " 9955 RELA Neuroblastoma MONDO_0005072 "Disgenet " 9955 RELA "Renal cell carcinoma" MONDO_0005549 "Disgenet " 9955 RELA Colitides MONDO_0005534 "Disgenet " 9955 RELA "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 9955 RELA Lymphomas MONDO_0005062 "Disgenet " 9955 RELA "Damage, Reperfusion" MONDO_0005203 "Disgenet " 9955 RELA "Carcinoma, Non Small Cell Lung" MONDO_0005233 "Disgenet " 9955 RELA "COLONIC NEOPLASM" MONDO_0005401 "Disgenet " 9955 RELA Adenocarcinoma MONDO_0004970 "Disgenet " 9955 RELA "High blood pressure" MONDO_0005044 "Disgenet " 9955 RELA "Hemorrhages, Subarachnoid" MONDO_0005099 "Disgenet " 9955 RELA "ISCHEMIC ENCEPH" MONDO_0005299 "Disgenet " 9955 RELA "Diabetic Nephropathies" MONDO_0005016 "Disgenet " 9955 RELA "Ulcerative colitis" MONDO_0005101 "Disgenet " 9955 RELA "Breast Neoplasms" MONDO_0021100 "Disgenet " 9956 RELB "Cancer, Breast" MONDO_0007254 "Disgenet " 9956 RELB "immunodeficiency 53" MONDO:0054696 "ClinGen " 9956 RELB "IMMUNODEFICIENCY 53" MONDO_0054696 "Disgenet " 9957 RELN ETL7 MONDO_0014639 "Disgenet " 9957 RELN Depression MONDO_0002050 "Disgenet " 9957 RELN "LISSENCEPHALY 2" MONDO_0009760 "Disgenet " 9957 RELN "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 9957 RELN "Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder)" MONDO_0019450 "Disgenet " 9957 RELN "Depressive neurosis" MONDO_0002050 "Disgenet " 9957 RELN "Alzheimer Disease" MONDO_0012630 "Disgenet " 9957 RELN Lissencephaly MONDO_0018838 "Disgenet " 9957 RELN "Affective Disorders" MONDO_0005371 "Disgenet " 9957 RELN ADPEAF MONDO_0010898 "Disgenet " 9957 RELN "EPILEPSY, FAMILIAL TEMPORAL LOBE, 1" MONDO_0700090 "Disgenet " 9957 RELN "MAJOR DEPRESSIVE DISORDER" MONDO_0002009 "Disgenet " 9957 RELN "Depressions, Unipolar" MONDO_0002050 "Disgenet " 9957 RELN "Childhood autism" MONDO_0005260 "Disgenet " 9957 RELN "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 9957 RELN "lissencephaly with cerebellar hypoplasia" MONDO:0019450 "ClinGen " 9957 RELN "Mental retardation, nonspecific" MONDO_0001071 "Disgenet " 9957 RELN Schizophrenias MONDO_0005090 "Disgenet " 9957 RELN "Bipolar Disorders" MONDO_0004985 "Disgenet " 9958 REN "Essential hypertension" MONDO_0007781 "Disgenet " 9958 REN "High blood pressure" MONDO_0005044 "Disgenet " 9958 REN "RENAL TUBULAR DYSGENESIS" MONDO_0017609 "Disgenet " 9958 REN "Hypertension, Malignant" MONDO_0006846 "Disgenet " 9958 REN "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 9958 REN "Depressive neurosis" MONDO_0002050 "Disgenet " 9958 REN "Heart failure" MONDO_0005252 "Disgenet " 9958 REN "Congestive heart failure" MONDO_0005252 "Disgenet " 9958 REN "Bartter Disease" MONDO_0015231 "Disgenet " 9958 REN "Hypertension, Portal" MONDO_0005080 "Disgenet " 9958 REN Anemia MONDO_0002280 "Disgenet " 9958 REN "Nephrotic Syndrome" MONDO_0005377 "Disgenet " 9958 REN Nephroses MONDO_0002331 "Disgenet " 9958 REN "Liddle's syndrome" MONDO_0008323 "Disgenet " 9958 REN HNFJ2 MONDO_0000608 "Disgenet " 9958 REN Osteoporoses MONDO_0005298 "Disgenet " 9958 REN Alcoholism MONDO_0002046 "Disgenet " 9958 REN "Alcoholic Intoxication" "Disgenet " 9958 REN "renal tubular dysgenesis of genetic origin" MONDO:0009970 "ClinGen " 9958 REN "familial juvenile hyperuricemic nephropathy type 2" MONDO:0013128 "ClinGen " 9958 REN Depression MONDO_0002050 "Disgenet " 9958 REN Nephropathy MONDO_0005240 "Disgenet " 9958 REN "Infarctions, Myocardial" MONDO_0005068 "Disgenet " 9958 REN "Hypertrophy, Left Ventricular" "Disgenet " 9958 REN "Bipolar Disorders" MONDO_0004985 "Disgenet " 9958 REN "Depressions, Unipolar" MONDO_0002050 "Disgenet " 9963 REPS2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 9964 DPF2 "Coffin-Siris syndrome" MONDO_0015452 "Disgenet " 9964 DPF2 CSS7 MONDO_0054831 "Disgenet " 9964 DPF2 "Coffin-Siris syndrome" MONDO:0015452 "ClinGen " 9965 RERE "complex neurodevelopmental disorder with or without congenital anomalies" MONDO:0100465 "ClinGen " 9965 RERE "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART" MONDO_0014857 "Disgenet " 9965 RERE "Neurodevelopmental Disorder" MONDO_0700092 "Disgenet " 9965 RERE "1p36 Deletion Syndrome" MONDO_0011929 "Disgenet " 9967 RET "Renal hypoplasia" MONDO_0019637 "Disgenet " 9967 RET "multiple endocrine neoplasia type 2B" MONDO:0008082 "ClinGen " 9967 RET "multiple endocrine neoplasia type 2A" MONDO:0008234 "ClinGen " 9967 RET "Extra-Adrenal Pheochromocytoma" MONDO_0008233 "Disgenet " 9967 RET "Liver cell carcinoma" MONDO_0007256 "Disgenet " 9967 RET Pheochromocytoma MONDO_0008233 "Disgenet " 9967 RET "Adenomatoses, Familial Endocrine" MONDO_0017169 "Disgenet " 9967 RET "medullary thyroid carcinoma" MONDO_0015277 "Disgenet " 9967 RET "MEN III" MONDO_0008082 "Disgenet " 9967 RET "Neoplasm, Thyroid" MONDO_0015074 "Disgenet " 9967 RET "Hereditary Thyroid Gland Medullary Carcinoma" MONDO_0007958 "Disgenet " 9967 RET "Papillary Thyroid Carcinoma" MONDO_0005075 "Disgenet " 9967 RET "Disease, Hirschsprung" MONDO_0018309 "Disgenet " 9967 RET "Sipple's syndrome" MONDO_0019003 "Disgenet " 9967 RET "Cancer, Ovarian" MONDO_0008170 "Disgenet " 9967 RET "Carcinoma, Medullary" "Disgenet " 9967 RET "Colorectal Neoplasm" MONDO_0005575 "Disgenet " 9967 RET "Renal agenesis, bilateral" MONDO_0015986 "Disgenet " 9967 RET CRC MONDO_0005335 "Disgenet " 9967 RET "MEN I" MONDO_0017169 "Disgenet " 9967 RET "Well Differentiated Thyroid Carcinoma" MONDO_0015447 "Disgenet " 9967 RET "CARCINOMA OF BREAST" MONDO_0021100 "Disgenet " 9967 RET "Cancer, Breast" MONDO_0007254 "Disgenet " 9967 RET "Cancer Syndrome, Hereditary" MONDO_0015356 "Disgenet " 9967 RET "Congenital central hypoventilation syndrome" MONDO_0800026 "Disgenet " 9967 RET "Multiple endocrine neoplasia Type 2" MONDO_0019003 "Disgenet " 9967 RET "Thyroid Carcinoma" MONDO_0015075 "Disgenet " 9967 RET Cakut MONDO_0019719 "Disgenet " 9968 REV3L "CARCINOMA OF COLON" MONDO_0002032 "Disgenet " 9968 REV3L "Mobius Syndrome" MONDO_0014296 "Disgenet " 9969 RFC1 "Defect, Congenital Heart" MONDO_0005453 "Disgenet " 9969 RFC1 "Ataxias, Cerebellar" MONDO_0000437 "Disgenet " 9969 RFC1 "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" MONDO:0044720 "ClinGen " 9969 RFC1 "Parkinson Disease" MONDO_0014796 "Disgenet " 9969 RFC1 "Vestibular Areflexia" "Disgenet " 9969 RFC1 CANVAS MONDO_0044720 "Disgenet " 9972 RFC4 "Lung adenocarcinoma" MONDO_0005061 "Disgenet " 9984 RFX3 "AUTISM SPECTRUM DISORDER" MONDO_0005258 "Disgenet " 9984 RFX3 "complex neurodevelopmental disorder" MONDO:0100038 "ClinGen " 9985 RFX4 "Bipolar Disorders" MONDO_0004985 "Disgenet " 9986 RFX5 "MHC class II deficiency" MONDO:0008855 "ClinGen " 9986 RFX5 BLS MONDO_0971005 "Disgenet " 9986 RFX5 "Bare Lymphocyte Syndromes" MONDO_0015974 "Disgenet " 9987 RFXANK BLS MONDO_0971005 "Disgenet " 9987 RFXANK "MHC class II deficiency" MONDO:0008855 "ClinGen " 9987 RFXANK "Bare Lymphocyte Syndromes" MONDO_0015974 "Disgenet " 9988 RFXAP "MHC class II deficiency" MONDO:0008855 "ClinGen " 9988 RFXAP "Bare Lymphocyte Syndromes" MONDO_0015974 "Disgenet " 9988 RFXAP BLS MONDO_0971005 "Disgenet " 9989 RGN "Cirrhosis, Hepatic" MONDO_0005155 "Disgenet " 9990 RGR RP44 MONDO_0013414 "Disgenet " 9990 RGR "Pigmentary Retinopathies" MONDO_0019200 "Disgenet " 9990 RGR "Retinal dystrophy" MONDO_0019118 "Disgenet " 9998 RGS2 "Acute myeloid leukemia" MONDO_0018874 "Disgenet " 9998 RGS2 Schizophrenias MONDO_0005090 "Disgenet " 9998 RGS2 "Breast Neoplasms" MONDO_0021100 "Disgenet " 9998 RGS2 "Neoplasm, Stomach" MONDO_0001056 "Disgenet " 9998 RGS2 "High blood pressure" MONDO_0005044 "Disgenet "