qGenEx® MEN. Panel Mendelioma


Lista de genes
GeneMedian coverage% covered > 10x% covered > 20xAssociated PhenotypeOMIM disease ID
A2M1090.990.99Alpha-2-macroglobulin deficiency,614036
A2M1090.990.99{Alzheimer disease, susceptibility to},104300
A4GALT123.711NOR polyagglutination syndrome,111400
A4GALT123.711[Blood group, P1Pk system, P phenotype],111400
A4GALT123.711[Blood group, P1Pk system, p phenotype],111400
AAAS77.210.97Achalasia-addisonianism-alacrimia syndrome,231550
AAGAB133.10.990.92Keratoderma, palmoplantar, punctate type IA,148600
AARS112.50.990.96Charcot-Marie-Tooth disease, axonal, type 2N,613287
AARS112.50.990.96Epileptic encephalopathy, early infantile, 29616339
AARS2109.20.990.97Combined oxidative phosphorylation deficiency 8614096
AARS2109.20.990.97Leukoencephalopathy, progressive, with ovarian failure,615889
AASS120.810.96Hyperlysinemia,238700
AASS120.810.96Saccharopinuria,268700
ABAT79.311GABA-transaminase deficiency,613163
ABCA1112.70.990.98HDL deficiency, type 2604091
ABCA1112.70.990.98Tangier disease,205400
ABCA1112.70.990.98{Coronary artery disease in familial hypercholesterolemia, protection against},143890
ABCA12131.50.990.96Ichthyosis, autosomal recessive 4B (harlequin),242500
ABCA12131.50.990.96Ichthyosis, congenital, autosomal recessive 4A,601277
ABCA3109.20.990.98Surfactant metabolism dysfunction, pulmonary, 3610921
ABCA4106.110.97Cone-rod dystrophy 3604116
ABCA4106.110.97Fundus flavimaculatus,248200
ABCA4106.110.97Retinal dystrophy, early-onset severe,248200
ABCA4106.110.97Retinitis pigmentosa 19601718
ABCA4106.110.97Stargardt disease 1248200
ABCA4106.110.97{Macular degeneration, age-related, 2},153800
ABCB11150.310.98Cholestasis, benign recurrent intrahepatic, 2605479
ABCB11150.310.98Cholestasis, progressive familial intrahepatic 2601847
ABCB4110.50.980.94Cholestasis, intrahepatic, of pregnancy, 3614972
ABCB4110.50.980.94Cholestasis, progressive familial intrahepatic 3602347
ABCB4110.50.980.94Gallbladder disease 1600803
ABCB6106.30.990.98Dyschromatosis universalis hereditaria 3615402
ABCB6106.30.990.98Microphthalmia, isolated, with coloboma 7614497
ABCB6106.30.990.98Pseudohyperkalemia, familial, 2 due to red cell leak,609153
ABCB6106.30.990.98[Blood group, Langereis system],111600
ABCB7170.510.97Anemia, sideroblastic, with ataxia,301310
ABCC2132.711Dubin-Johnson syndrome,237500
ABCC686.50.920.9Arterial calcification, generalized, of infancy, 2614473
ABCC686.50.920.9Pseudoxanthoma elasticum,264800
ABCC686.50.920.9Pseudoxanthoma elasticum, forme fruste,177850
ABCC8128.110.99Diabetes mellitus, noninsulin-dependent,125853
ABCC8128.110.99Diabetes mellitus, permanent neonatal,606176
ABCC8128.110.99Diabetes mellitus, transient neonatal 2610374
ABCC8128.110.99Hyperinsulinemic hypoglycemia, familial, 1256450
ABCC8128.110.99Hypoglycemia of infancy, leucine-sensitive,240800
ABCC9141.610.98Atrial fibrillation, familial, 12614050
ABCC9141.610.98Cardiomyopathy, dilated, 1O,608569
ABCC9141.610.98Hypertrichotic osteochondrodysplasia,239850
ABCD195.40.730.68Adrenoleukodystrophy,300100
ABCD195.40.730.68Adrenomyeloneuropathy, adult,300100
ABCD4123.510.98Methylmalonic aciduria and homocystinuria, cblJ type,614857
ABCG512911Sitosterolemia,210250
ABCG8140.810.96Sitosterolemia,210250
ABCG8140.810.96{Gallbladder disease 4},611465
ABHD1289.310.88Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract,612674
ABHD5206.111Chanarin-Dorfman syndrome,275630
ABL1121.510.99Leukemia, Philadelphia chromosome-positive, resistant to imatinib275630
ACAD8111.411Isobutyryl-CoA dehydrogenase deficiency,611283
ACAD9113.40.980.94Mitochondrial complex I deficiency due to ACAD9 deficiency,611126
ACADM94.60.980.93Acyl-CoA dehydrogenase, medium chain, deficiency of,201450
ACADS113.70.990.96Acyl-CoA dehydrogenase, short-chain, deficiency of,201470
ACADSB111.40.960.872-methylbutyrylglycinuria,610006
ACADVL103.210.95VLCAD deficiency,201475
ACAN105.30.910.82Osteochondritis dissecans, short stature, and early-onset osteoarthritis,165800
ACAN105.30.910.82Spondyloepimetaphyseal dysplasia, aggrecan type,612813
ACAN105.30.910.82Spondyloepiphyseal dysplasia, Kimberley type,608361
ACAT1106.60.960.84Alpha-methylacetoacetic aciduria,203750
ACE98.60.920.87Renal tubular dysgenesis,267430
ACE98.60.920.87[Angiotensin I-converting enzyme, benign serum increase]267430
ACE98.60.920.87{Microvascular complications of diabetes 3},612624
ACE98.60.920.87{Myocardial infarction, susceptibility to}612624
ACE98.60.920.87{SARS, progression of}612624
ACE98.60.920.87{Stroke, hemorrhagic},614519
ACO2106.80.940.88Infantile cerebellar-retinal degeneration,614559
ACO2106.80.940.88?Optic atrophy 9616289
ACOX1158.811Peroxisomal acyl-CoA oxidase deficiency,264470
ACP5179.210.97Spondyloenchondrodysplasia with immune dysregulation,607944
ACSF3123.610.98Combined malonic and methylmalonic aciduria,614265
ACSL4136.50.980.89Mental retardation, X-linked 63300387
ACSL6109.910.98Myelodysplastic syndrome300387
ACSL6109.910.98Myelogenous leukemia, acute300387
ACTA182.910.95Myopathy, actin, congenital, with cores,161800
ACTA182.910.95Myopathy, actin, congenital, with excess of thin myofilaments,161800
ACTA182.910.95Myopathy, congenital, with fiber-type disproportion 1255310
ACTA182.910.95Nemaline myopathy 3 autosomal dominant or recessive,161800
ACTA182.910.95?Myopathy, scapulohumeroperoneal,616852
ACTA2126.510.98Aortic aneurysm, familial thoracic 6611788
ACTA2126.510.98Moyamoya disease 5614042
ACTA2126.510.98Multisystemic smooth muscle dysfunction syndrome,613834
ACTB90.310.9Baraitser-Winter syndrome 1243310
ACTB90.310.9?Dystonia, juvenile-onset,607371
ACTC1143.210.99Atrial septal defect 5612794
ACTC1143.210.99Cardiomyopathy, dilated, 1R,613424
ACTC1143.210.99Cardiomyopathy, hypertrophic, 11612098
ACTC1143.210.99Left ventricular noncompaction 4613424
ACTG1101.911Baraitser-Winter syndrome 2614583
ACTG1101.911Deafness, autosomal dominant 20/26,604717
ACTG2118.90.990.96Visceral myopathy,155310
ACTN1128.710.99Bleeding disorder, platelet-type, 15615193
ACTN2132.611Cardiomyopathy, dilated, 1AA, with or without LVNC,612158
ACTN2132.611Cardiomyopathy, hypertrophic, 23 with or without LVNC,612158
ACTN411311Glomerulosclerosis, focal segmental, 1603278
ACVR1142.810.98Fibrodysplasia ossificans progressiva,135100
ACVR1B149.70.990.94Pancreatic cancer, somatic135100
ACVR2B125.80.950.9Heterotaxy, visceral, 4 autosomal,613751
ACVRL1106.20.990.97Telangiectasia, hereditary hemorrhagic, type 2600376
ACY1121.80.990.95Aminoacylase 1 deficiency,609924
ADA96.30.980.95Adenosine deaminase deficiency, partial,102700
ADA96.30.980.95Severe combined immunodeficiency due to ADA deficiency,102700
ADAM10131.10.990.98Reticulate acropigmentation of Kitamura,615537
ADAM10131.10.990.98{Alzheimer disease 18 susceptibility to},615590
ADAM9134.710.94Cone-rod dystrophy 9612775
ADAMTS10930.990.96Weill-Marchesani syndrome 1 recessive,277600
ADAMTS13930.950.91Thrombotic thrombocytopenic purpura, familial,274150
ADAMTS17105.90.880.87Weill-Marchesani-like syndrome,613195
ADAMTS18140.710.98Microcornea, myopic chorioretinal atrophy, and telecanthus,615458
ADAMTS210810.96Ehlers-Danlos syndrome, type VIIC,225410
ADAMTSL298.40.870.82Geleophysic dysplasia 1231050
ADAMTSL477.70.990.98Ectopia lentis et pupillae,225200
ADAMTSL477.70.990.98Ectopia lentis, isolated, autosomal recessive,225100
ADAR106.410.98Aicardi-Goutieres syndrome 6615010
ADAR106.410.98Dyschromatosis symmetrica hereditaria,127400
ADAT366.410.97Mental retardation, autosomal recessive 36615286
ADCK3113.710.99Coenzyme Q10 deficiency, primary, 4612016
ADCK484.710.99Nephrotic syndrome, type 9615573
ADCY5113.80.920.89Dyskinesia, familial, with facial myokymia,606703
ADD3157.70.990.98Cerebral palsy,spastic quadriplegic,3,617008
ADIPOQ11311Adiponectin deficiency,612556
ADK84.10.990.93Hypermethioninemia due to adenosine kinase deficiency,614300
ADNP210.810.99Helsmoortel-van der Aa syndrome,615873
ADRA2B172.111Epilepsy, myoclonic, familial adult, 2607876
ADSL152.211Adenylosuccinase deficiency,103050
ADSSL1109.30.980.9Myopathy, distal, 5617030
AFF215211Mental retardation, X-linked, FRAXE type,309548
AFF4101.40.960.95CHOPS syndrome,616368
AFG3L2960.890.78Ataxia, spastic, 5 autosomal recessive,614487
AFG3L2960.890.78Spinocerebellar ataxia 28610246
AGA130.411Aspartylglucosaminuria,208400
AGBL11200.990.99Corneal dystrophy, Fuchs endothelial, 8615523
AGBL596.70.990.97Retinitis pigmentosa 75,617023
AGK113.90.980.94Cataract 38 autosomal recessive,614691
AGK113.90.980.94Sengers syndrome,212350
AGL13310.97Glycogen storage disease IIIa,232400
AGL13310.97Glycogen storage disease IIIb,232400
AGPAT21030.990.94Lipodystrophy, congenital generalized, type 1608594
AGPS49.40.940.78Rhizomelic chondrodysplasia punctata, type 3600121
AGRN103.10.970.9Myasthenic syndrome, congenital, 8 with pre- and postsynaptic defects,615120
AGT157.611Renal tubular dysgenesis,267430
AGT157.611{Hypertension, essential, susceptibility to},145500
AGT157.611{Preeclampsia, susceptibility to}145500
AGTR1132.611Renal tubular dysgenesis,267430
AGTR1132.611{Hypertension, essential},145500
AGXT12511Hyperoxaluria, primary, type 1259900
AHCY106.410.98Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase,613752
AHDC1110.110.96Xia-Gibbs syndrome,615829
AHI1123.60.990.91Joubert syndrome-3,608629
AICDA1150.990.97Immunodeficiency with hyper-IgM, type 2605258
AIFM1143.511Combined oxidative phosphorylation deficiency 6300816
AIFM1143.511Cowchock syndrome,310490
AIFM1143.511Deafness, X-linked 5300614
AIMP184.30.970.91Leukodystrophy, hypomyelinating, 3260600
AIP135.30.980.95Pituitary adenoma, ACTH-secreting,219090
AIP135.30.980.95Pituitary adenoma, growth hormone-secreting,102200
AIP135.30.980.95Pituitary adenoma, prolactin-secreting,600634
AIPL1107.411Cone-rod dystrophy,604393
AIPL1107.411Leber congenital amaurosis 4604393
AIPL1107.411Retinitis pigmentosa, juvenile,604393
AIRE69.30.980.91Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia,604393
AIRE69.30.980.91Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia,240300
AK195.611Hemolytic anemia due to adenylate kinase deficiency,612631
AK291.70.970.88Reticular dysgenesis,267500
AKR1C2139.60.950.8446XY sex reversal 8614279
AKR1C2139.60.950.84Obesity, hyperphagia, and developmental delay614279
AKR1D189.30.930.87Bile acid synthesis defect, congenital, 2235555
AKT1148.410.98Breast cancer, somatic,114480
AKT1148.410.98Colorectal cancer, somatic,114500
AKT1148.410.98Cowden syndrome 6615109
AKT1148.410.98Ovarian cancer, somatic,167000
AKT1148.410.98Proteus syndrome, somatic,176920
AKT1148.410.98{Schizophrenia, susceptibility to},181500
AKT2125.50.990.98Diabetes mellitus, type II,125853
AKT2125.50.990.98Hypoinsulinemic hypoglycemia with hemihypertrophy,240900
AKT369.20.990.89Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2615937
ALAD99.911Porphyria, acute hepatic,612740
ALAD99.911{Lead poisoning, susceptibility to},612740
ALAS2110.710.96Anemia, sideroblastic, 1300751
ALAS2110.710.96Protoporphyria, erythropoietic, X-linked,300752
ALB141.410.97Analbuminemia,616000
ALB141.410.97[Dysalbuminemic hyperthyroxinemia],615999
ALDH18A1115.410.99Cutis laxa, autosomal dominant 3616603
ALDH18A1115.410.99Cutis laxa, autosomal recessive, type IIIA,219150
ALDH18A1115.410.99Spastic paraplegia 9A, autosomal dominant,601162
ALDH18A1115.410.99Spastic paraplegia 9B, autosomal recessive,616586
ALDH1A3101.20.940.91Microphthalmia, isolated 8615113
ALDH2108.710.98Alcohol sensitivity, acute,610251
ALDH2108.710.98{Esophageal cancer, alcohol-related, susceptibility to}610251
ALDH2108.710.98{Hangover, susceptibility to},610251
ALDH2108.710.98{Sublingual nitroglycerin, susceptibility to poor response to}610251
ALDH3A212211Sjogren-Larsson syndrome,270200
ALDH4A1104.20.980.97Hyperprolinemia, type II,239510
ALDH5A171.50.90.8Succinic semialdehyde dehydrogenase deficiency,271980
ALDH6A1113.111Methylmalonate semialdehyde dehydrogenase deficiency,614105
ALDH7A162.70.910.83Epilepsy, pyridoxine-dependent,266100
ALDOA148.810.96Glycogen storage disease XII,611881
ALDOB136.610.98Fructose intolerance,229600
ALG149.10.520.47Congenital disorder of glycosylation, type Ik,608540
ALG11144.711Congenital disorder of glycosylation, type Ip,613661
ALG12132.711Congenital disorder of glycosylation, type Ig,607143
ALG13105.410.96Epileptic encephalopathy, early infantile, 36300884
ALG295.511Myasthenic syndrome, congenital, 14 with tubular aggregates,616228
ALG295.511?Congenital disorder of glycosylation, type Ii,607906
ALG399.210.99Congenital disorder of glycosylation, type Id,601110
ALG690.40.950.94Congenital disorder of glycosylation, type Ic,603147
ALG8118.30.950.92Congenital disorder of glycosylation, type Ih,608104
ALG911210.98Congenital disorder of glycosylation, type Il,608776
ALG911210.98Gillessen-Kaesbach-Nishimura syndrome,263210
ALMS1157.80.990.99Alstrom syndrome,203800
ALOX12B118.110.98Ichthyosis, congenital, autosomal recessive 2242100
ALOXE3117.110.99Ichthyosis, congenital, autosomal recessive 3606545
ALPL135.211Hypophosphatasia, adult,146300
ALPL135.211Hypophosphatasia, childhood,241510
ALPL135.211Hypophosphatasia, infantile,241500
ALPL135.211Odontohypophosphatasia,146300
ALS2144.410.99Amyotrophic lateral sclerosis 2 juvenile,205100
ALS2144.410.99Primary lateral sclerosis, juvenile,606353
ALS2144.410.99Spastic paralysis, infantile onset ascending,607225
ALX3102.90.820.69Frontonasal dysplasia 1136760
ALX4102.90.940.84Frontonasal dysplasia 2613451
ALX4102.90.940.84Parietal foramina 2609597
ALX4102.90.940.84{Craniosynostosis 5 susceptibility to},615529
AMACR130.510.99Alpha-methylacyl-CoA racemase deficiency,614307
AMACR130.510.99Bile acid synthesis defect, congenital, 4214950
AMBN142.20.940.88Amelogenesis imperfecta, type IF,616270
AMELX99.810.99Amelogenesis imperfecta, type 1E,301200
AMER1108.510.99Osteopathia striata with cranial sclerosis,300373
AMH32.10.960.67Persistent Mullerian duct syndrome, type I,261550
AMHR2115.90.990.98Persistent Mullerian duct syndrome, type II,261550
AMN51.50.780.66Megaloblastic anemia-1, Norwegian type,261100
AMPD1117.111Myopathy due to myoadenylate deaminase deficiency,615511
AMPD2117.610.96Pontocerebellar hypoplasia, type 9615809
AMPD2117.610.96?Spastic paraplegia 63615686
AMT134.310.98Glycine encephalopathy,605899
ANG147.910.96Amyotrophic lateral sclerosis 9611895
ANGPTL382.20.920.88Hypobetalipoproteinemia, familial, 2605019
ANK1118.910.98Spherocytosis, type 1182900
ANK2133.80.990.99Cardiac arrhythmia, ankyrin-B-related,600919
ANK2133.80.990.99Long QT syndrome 4600919
ANKH97.511Chondrocalcinosis 2118600
ANKH97.511Craniometaphyseal dysplasia,123000
ANKK112010.98Dopamine receptor D2, reduced brain density of,608774
ANKRD1187.90.940.9KBG syndrome,148050
ANKRD26710.880.74Thrombocytopenia 2188000
ANKS679.40.910.84Nephronophthisis 16615382
ANLN129.30.980.91Focal segmental glomerulosclerosis 8616032
ANO10102.810.95Spinocerebellar ataxia, autosomal recessive 10613728
ANO3141.40.990.98Dystonia 24615034
ANO5128.60.990.95Gnathodiaphyseal dysplasia,166260
ANO5128.60.990.95Miyoshi muscular dystrophy 3613319
ANO5128.60.990.95Muscular dystrophy, limb-girdle, type 2L,611307
ANO6113.40.970.92Scott syndrome,262890
ANTXR1113.90.980.95GAPO syndrome,230740
ANTXR1113.90.980.95{Hemangioma, capillary infantile, susceptibility to},602089
ANTXR279.910.9Hyaline fibromatosis syndrome,228600
AP1S1104.810.99MEDNIK syndrome,609313
AP1S277.40.740.7Mental retardation, X-linked syndromic 5304340
AP2S1132.40.880.88Hypocalciuric hypercalcemia, familial, type III,600740
AP3B1900.930.86Hermansky-Pudlak syndrome 2608233
AP4B1131.80.990.97Spastic paraplegia 47 autosomal recessive,614066
AP4E195.110.98Spastic paraplegia 51 autosomal recessive,613744
AP4E195.110.98Stuttering, familial persistent, 1184450
AP4M198.90.990.97Spastic paraplegia 50 autosomal recessive,612936
AP4S158.70.680.68Spastic paraplegia 52 autosomal recessive,614067
AP5Z178.110.99Spastic paraplegia 48 autosomal recessive,613647
APC14310.99Adenoma, periampullary, somatic613647
APC14310.99Adenomatous polyposis coli,175100
APC14310.99Brain tumor-polyposis syndrome 2175100
APC14310.99Colorectal cancer, somatic,114500
APC14310.99Desmoid disease, hereditary,135290
APC14310.99Gardner syndrome,175100
APC14310.99Gastric cancer, somatic,613659
APC14310.99Hepatoblastoma, somatic,114550
APCDD11320.980.93Hypotrichosis 1605389
APOA181.511Amyloidosis, 3 or more types,105200
APOA181.511ApoA-I and apoC-III deficiency, combined105200
APOA181.511Corneal clouding, autosomal recessive105200
APOA181.511Hypoalphalipoproteinemia,604091
APOA2103.40.810.81Apolipoprotein A-II deficiency,107670
APOA2103.40.810.81{Hypercholesterolemia, familial, modifier of},143890
APOA5121.211Hyperchylomicronemia, late-onset,144650
APOA5121.211{Hypertriglyceridemia, susceptibility to},145750
APOB1660.990.99Hypercholesterolemia, due to ligand-defective apo B,144010
APOB1660.990.99Hypobetalipoproteinemia,615558
APOC283.211Hyperlipoproteinemia, type Ib,207750
APOC375.811Apolipoprotein C-III deficiency,614028
APOE50.30.960.85Alzheimer disease-2,104310
APOE50.30.960.85Hyperlipoproteinemia, type III104310
APOE50.30.960.85Lipoprotein glomerulopathy,611771
APOE50.30.960.85Sea-blue histiocyte disease,269600
APOE50.30.960.85{?Macular degeneration, age-related},603075
APOE50.30.960.85{Myocardial infarction susceptibility}603075
APOPT169.10.870.86Mitochondrial complex IV deficiency,220110
APP133.911Alzheimer disease 1 familial,104300
APP133.911Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants,605714
APRT56.411Adenine phosphoribosyltransferase deficiency,614723
APTX108.50.940.91Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia,208920
AQP2109.410.93Diabetes insipidus, nephrogenic,125800
AQP594.50.980.93Palmoplantar keratoderma, Bothnian type,600231
AR91.40.940.89Androgen insensitivity,300068
AR91.40.940.89Androgen insensitivity, partial, with or without breast cancer,312300
AR91.40.940.89Hypospadias 1 X-linked,300633
AR91.40.940.89Spinal and bulbar muscular atrophy of Kennedy,313200
AR91.40.940.89{Prostate cancer, susceptibility to},176807
ARFGEF2140.90.990.98Periventricular heterotopia with microcephaly,608097
ARG113111Argininemia,207800
ARHGAP26126.811Leukemia, juvenile myelomonocytic, somatic,607785
ARHGAP3198.40.990.97Adams-Oliver syndrome 1100300
ARHGDIA121.411Nephrotic syndrome, type 8615244
ARHGEF6169.90.950.93Mental retardation, X-linked 46300436
ARHGEF9106.110.99Epileptic encephalopathy, early infantile, 8300607
ARID1A112.70.930.88Coffin-Siris syndrome 2614607
ARID1B121.60.920.87Coffin-Siris syndrome 1135900
ARL13B88.610.91Joubert syndrome 8612291
ARL2BP63.30.860.76Retinitis pigmentosa with or without situs inversus,615434
ARL685.20.990.93Bardet-Biedl syndrome 3600151
ARL685.20.990.93?Retinitis pigmentosa 55613575
ARL685.20.990.93{Bardet-Biedl syndrome 1 modifier of},209900
ARMC4113.70.90.89Ciliary dyskinesia, primary, 23615451
ARMC599.810.99ACTH-independent macronodular adrenal hyperplasia 2615954
ARSA91.711Metachromatic leukodystrophy,250100
ARSB115.50.980.94Mucopolysaccharidosis type VI (Maroteaux-Lamy),253200
ARSE109.510.98Chondrodysplasia punctata, X-linked recessive,302950
ARV1122.210.98Epileptic encephalopathy, early infantile, 38617020
ARX38.50.870.73Epileptic encephalopathy, early infantile, 1308350
ARX38.50.870.73Hydranencephaly with abnormal genitalia,300215
ARX38.50.870.73Lissencephaly, X-linked 2300215
ARX38.50.870.73Mental retardation, X-linked 29 and others,300419
ARX38.50.870.73Partington syndrome,309510
ARX38.50.870.73Proud syndrome,300004
ASAH1109.10.990.84Farber lipogranulomatosis,228000
ASAH1109.10.990.84Spinal muscular atrophy with progressive myoclonic epilepsy,159950
ASB109710.99Glaucoma 1 open angle, F,603383
ASCC1141.70.930.91Barrett esophagus/esophageal adenocarcinoma,614266
ASCC1141.70.930.91?Spinal muscular atrophy with congenital bone fractures 2,616867
ASCL1155.30.790.73Central hypoventilation syndrome, congenital,209880
ASCL1155.30.790.73Haddad syndrome,209880
ASL91.710.98Argininosuccinic aciduria,207900
ASNS85.20.970.87Asparagine synthetase deficiency,615574
ASPA112.60.970.91Canavan disease,271900
ASPH105.20.970.91Traboulsi syndrome,601552
ASPM94.80.970.91Microcephaly 5 primary, autosomal recessive,608716
ASPSCR183.610.96Alveolar soft-part sarcoma,606243
ASS181.10.980.89Citrullinemia,215700
ASXL1135.30.990.98Bohring-Opitz syndrome,605039
ASXL1135.30.990.98Myelodysplastic syndrome, somatic,614286
ASXL3139.10.990.98Bainbridge-Ropers syndrome,615485
ATCAY136.610.99Ataxia, cerebellar, Cayman type,601238
ATF6122.410.99Achromatopsia 7616517
ATIC104.310.98AICA-ribosiduria due to ATIC deficiency,608688
ATL1162.10.990.93Neuropathy, hereditary sensory, type ID,613708
ATL1162.10.990.93Spastic paraplegia 3A, autosomal dominant,182600
ATL3110.40.960.93Neuropathy, hereditary sensory, type IF,615632
ATM101.40.980.92Ataxia-telangiectasia,208900
ATM101.40.980.92Lymphoma, B-cell non-Hodgkin, somatic208900
ATM101.40.980.92Lymphoma, mantle cell, somatic208900
ATM101.40.980.92T-cell prolymphocytic leukemia, somatic208900
ATM101.40.980.92{Breast cancer, susceptibility to},114480
ATN198.30.980.94Dentatorubro-pallidoluysian atrophy,125370
ATOH782.80.910.8Persistent hyperplastic primary vitreous, autosomal recessive,221900
ATP13A2106.710.98Kufor-Rakeb syndrome,606693
ATP13A2106.710.98?Ceroid lipofuscinosis, neuronal, 12606693
ATP1A2170.211Alternating hemiplegia of childhood,104290
ATP1A2170.211Migraine, familial basilar,602481
ATP1A2170.211Migraine, familial hemiplegic, 2602481
ATP1A3161.811Alternating hemiplegia of childhood 2614820
ATP1A3161.811CAPOS syndrome,601338
ATP1A3161.811Dystonia-12,128235
ATP2A1136.411Brody myopathy,601003
ATP2A2153.110.98Acrokeratosis verruciformis,101900
ATP2A2153.110.98Darier disease,124200
ATP2C1113.410.97Hailey-Hailey disease,169600
ATP6AP1128.211Immunodeficiency 47300972
ATP6V0A2122.911Cutis laxa, autosomal recessive, type IIA,219200
ATP6V0A2122.911Wrinkly skin syndrome,278250
ATP6V0A4108.70.990.97Renal tubular acidosis, distal, autosomal recessive,602722
ATP6V1B1158.911Renal tubular acidosis with deafness,267300
ATP6V1B2133.910.99Deafness, congenital, with onychodystrophy, autosomal dominant,124480
ATP6V1B2133.910.99Zimmermann-Laband syndrome 2616455
ATP7A159.50.990.98Menkes disease,309400
ATP7A159.50.990.98Occipital horn syndrome,304150
ATP7A159.50.990.98Spinal muscular atrophy, distal, X-linked 3300489
ATP7B134.610.98Wilson disease,277900
ATP8B1133.10.960.93Cholestasis, benign recurrent intrahepatic,243300
ATP8B1133.10.960.93Cholestasis, intrahepatic, of pregnancy, 1147480
ATP8B1133.10.960.93Cholestasis, progressive familial intrahepatic 1211600
ATPAF290.310.98Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1604273
ATR1290.980.95Seckel syndrome 1210600
ATR1290.980.95?Cutaneous telangiectasia and cancer syndrome, familial,614564
ATRX96.70.990.97Alpha-thalassemia myelodysplasia syndrome, somatic,300448
ATRX96.70.990.97Alpha-thalassemia/mental retardation syndrome,301040
ATRX96.70.990.97Mental retardation-hypotonic facies syndrome, X-linked,309580
ATXN1125.811Spinocerebellar ataxia 1164400
ATXN10133.10.950.92Spinocerebellar ataxia 10603516
ATXN287.70.910.79Spinocerebellar ataxia 2183090
ATXN287.70.910.79{Amyotrophic lateral sclerosis, susceptibility to, 13},183090
ATXN287.70.910.79{Parkinson disease, late-onset, susceptibility to},168600
ATXN392.80.980.9Machado-Joseph disease,109150
ATXN7110.30.950.91Spinocerebellar ataxia 7164500
ATXN7110.30.950.91ATXN8OS NC NC NC Spinocerebellar ataxia 8608768
AUH75.210.953-methylglutaconic aciduria, type I,250950
AURKC750.990.94Spermatogenic failure 5,24306250950
AUTS289.70.960.93Mental retardation, autosomal dominant 26,615834
AVP35.30.840.37Diabetes insipidus, neurohypophyseal,125700
AVPR2139.210.97Diabetes insipidus, nephrogenic,304800
AVPR2139.210.97Nephrogenic syndrome of inappropriate antidiuresis,300539
AXIN1130.60.990.97Hepatocellular carcinoma, somatic,114550
AXIN1130.60.990.97?Caudal duplication anomaly,607864
AXIN2102.610.98Colorectal cancer, somatic,114500
AXIN2102.610.98Oligodontia-colorectal cancer syndrome,608615
B2M276.511Immunodeficiency 43241600
B2M276.511?Amyloidosis, familial visceral,105200
B3GALNT2102.70.920.91Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11615181
B3GALT647.20.740.69Ehlers-Danlos syndrome, progeroid type, 2615349
B3GALT647.20.740.69Spondyloepimetaphyseal dysplasia with joint laxity, type 1 with or without fractures,271640
B3GALTL81.50.920.86Peters-plus syndrome,261540
B3GAT379.710.92Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart261540
B3GAT379.710.92defects,245600
B3GNT110311Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13615287
B4GALNT1122.60.990.9Spastic paraplegia 26 autosomal recessive,609195
B4GALT1114.610.98Congenital disorder of glycosylation, type IId,607091
B4GALT784.20.990.94Ehlers-Danlos syndrome with short stature and limb anomalies,130070
B9D282.611Meckel syndrome 10614175
BAAT112.30.970.93Hypercholanemia, familial,607748
BAG3110.610.98Cardiomyopathy, dilated, 1HH,613881
BAG3110.610.98Myopathy, myofibrillar, 6612954
BANF1600.990.95Nestor-Guillermo progeria syndrome,614008
BAP1118.910.98Tumor predisposition syndrome,614327
BAX70.40.850.84Colorectal cancer, somatic,114500
BAX70.40.850.84T-cell acute lymphoblastic leukemia, somatic,613065
BBS113411Bardet-Biedl syndrome 1209900
BBS10143.810.99Bardet-Biedl syndrome 10615987
BBS12175.611Bardet-Biedl syndrome 12615989
BBS2168.711Bardet-Biedl syndrome 2615981
BBS2168.711Retinitis pigmentosa 74616562
BBS4129.910.98Bardet-Biedl syndrome 4615982
BBS51040.960.9Bardet-Biedl syndrome 5615983
BBS7113.10.930.87Bardet-Biedl syndrome 7615984
BBS996.90.950.92Bardet-Biedl syndrome 9615986
BCAP3177.90.990.92Deafness, dystonia, and cerebral hypomyelination,300475
BCHE14710.98Apnea, postanesthetic,177400
BCKDHA140.410.98Maple syrup urine disease, type Ia,248600
BCKDHB93.90.930.9Maple syrup urine disease, type Ib,248600
BCKDK14411Branched-chain ketoacid dehydrogenase kinase deficiency,614923
BCL1082.610.98Lymphoma, MALT, somatic,137245
BCL1082.610.98?Immunodeficiency 37616098
BCL1082.610.98{Lymphoma, follicular, somatic},605027
BCL1082.610.98{Male germ cell tumor, somatic},273300
BCL1082.610.98{Mesothelioma, somatic},156240
BCL1082.610.98{Sezary syndrome, somatic},156240
BCL11A121.70.980.97Intellectual development disorder with persistence of fetal hemoglobin,617101
BCL2109.510.9Leukemia/lymphoma, B-cell, 2151430
BCL7A12711B-cell non-Hodgkin lymphoma, high-grade151430
BCMO1151.411Hypercarotenemia and vitamin A deficiency, autosomal dominant,115300
BCOR135.510.98Microphthalmia, syndromic 2300166
BCR93.80.880.82Leukemia, acute lymphocytic, somatic,613065
BCR93.80.880.82Leukemia, chronic myeloid, somatic,608232
BCS1L145.911Bjornstad syndrome,262000
BCS1L145.911GRACILE syndrome,603358
BCS1L145.911Leigh syndrome,256000
BCS1L145.911Mitochondrial complex III deficiency, nuclear type 1124000
BDNF152.911Central hypoventilation syndrome, congenital,209880
BDNF152.911{Anorexia nervosa, susceptibility to},610269
BDNF152.911{Bulimia nervosa, age of onset of weight loss in},607499
BDNF152.911{Memory impairment, susceptibility to}607499
BDNF152.911{Obsessive-compulsive disorder, protection against},164230
BEAN1102.60.970.87Spinocerebellar ataxia 31,11721164230
BEST1120.90.970.92Bestrophinopathy, autosomal recessive,611809
BEST1120.90.970.92Macular dystrophy, vitelliform, 2153700
BEST1120.90.970.92Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma,193220
BEST1120.90.970.92Retinitis pigmentosa, concentric,613194
BEST1120.90.970.92Retinitis pigmentosa-50,613194
BEST1120.90.970.92Vitreoretinochoroidopathy,193220
BFSP190.50.990.85Cataract 33611391
BFSP278.80.970.94Cataract 12 multiple types,611597
BGN136.111Spondyloepimetaphyseal dysplasia, X-linked,300106
BHLHA912.20.510.37Syndactyly, mesoaxial synostotic, with phalangeal reduction,609432
BHLHA912.20.510.37?Camptosynpolydactyly, complex,607539
BICD2125.60.990.99Spinal muscular atrophy, lower extremity-predominant, 2 AD,615290
BIN198.210.93Myopathy, centronuclear, autosomal recessive,255200
BLK95.611Maturity-onset diabetes of the young, type 11613375
BLM118.70.980.94Bloom syndrome,210900
BLNK96.20.920.88Agammaglobulinemia 4613502
BLOC1S332.80.950.7Hermansky-Pudlak syndrome 8614077
BLOC1S672.60.980.84Hermansky-pudlak syndrome 9614171
BLVRA112.310.96Hyperbiliverdinemia,614156
BMP1126.910.99Osteogenesis imperfecta, type XIII,614856
BMP15129.311Ovarian dysgenesis 2300510
BMP15129.311Premature ovarian failure 4300510
BMP2166.611Brachydactyly, type A2,112600
BMP2166.611{HFE hemochromatosis, modifier of},235200
BMP4127.210.99Microphthalmia, syndromic 6607932
BMP4127.210.99Orofacial cleft 11600625
BMPER13710.97Diaphanospondylodysostosis,608022
BMPR1A105.610.96Juvenile polyposis syndrome, infantile form,174900
BMPR1A105.610.96Polyposis syndrome, hereditary mixed, 2610069
BMPR1A105.610.96Polyposis, juvenile intestinal,174900
BMPR1B157.211Acromesomelic dysplasia, Demirhan type,609441
BMPR1B157.211Brachydactyly, type A1, D,616849
BMPR1B157.211Brachydactyly, type A2,112600
BMPR2167.311Pulmonary hypertension, familial primary, 1 with or without HHT,178600
BMPR2167.311Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated,178600
BMPR2167.311Pulmonary venoocclusive disease 1265450
BOLA344.30.940.76Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia,614299
BPGM98.911Erythrocytosis due to bisphosphoglycerate mutase deficiency,222800
BRAF64.80.850.76Adenocarcinoma of lung, somatic,211980
BRAF64.80.850.76Cardiofaciocutaneous syndrome,115150
BRAF64.80.850.76Colorectal cancer, somatic115150
BRAF64.80.850.76LEOPARD syndrome 3613707
BRAF64.80.850.76Melanoma, malignant, somatic613707
BRAF64.80.850.76Nonsmall cell lung cancer, somatic613707
BRAF64.80.850.76Noonan syndrome 7613706
BRAT187.310.96Rigidity and multifocal seizure syndrome, lethal neonatal,614498
BRCA289.30.970.95Fanconi anemia, complementation group D1,605724
BRCA289.30.970.95Wilms tumor,194070
BRCA289.30.970.95{Breast cancer, male, susceptibility to},114480
BRCA289.30.970.95{Breast-ovarian cancer, familial, 2},612555
BRCA289.30.970.95{Glioblastoma 3},613029
BRCA289.30.970.95{Medulloblastoma},155255
BRCA289.30.970.95{Pancreatic cancer 2},613347
BRCA289.30.970.95{Prostate cancer},176807
BRF191.20.950.89Cerebellofaciodental syndrome,616202
BRIP1114.310.96Breast cancer, early-onset,114480
BRIP1114.310.96Fanconi anemia, complementation group J,609054
BRWD3126.10.980.95Mental retardation, X-linked 93300659
BSCL299.311Encephalopathy, progressive, with or without lipodystrophy,615924
BSCL299.311Lipodystrophy, congenital generalized, type 2269700
BSCL299.311Neuropathy, distal hereditary motor, type VA,600794
BSCL299.311Silver spastic paraplegia syndrome,270685
BSND135.510.99Bartter syndrome, type 4a,602522
BSND135.510.99Sensorineural deafness with mild renal dysfunction,602522
BTD125.510.98Biotinidase deficiency,253260
BTK158.311Agammaglobulinemia and isolated hormone deficiency,307200
BTK158.311Agammaglobulinemia, X-linked 1300755
BUB1126.50.990.94Colorectal cancer with chromosomal instability, somatic300755
BUB1B144.30.980.97Colorectal cancer, somatic,114500
BUB1B144.30.980.97Mosaic variegated aneuploidy syndrome 1257300
BUB1B144.30.980.97[Premature chromatid separation trait],176430
C10orf11128.50.990.99Albinism, oculocutaneous, type VII,615179
C10orf2152.511Mitochondrial DNA depletion syndrome 7 (hepatocerebral type),271245
C10orf2152.511Perrault syndrome 5616138
C10orf2152.511Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3609286
C11orf73520.930.76Leukodystrophy,hypomyelinating,13,616881
C12orf57126.711Temtamy syndrome,218340
C12orf6580.10.970.91Combined oxidative phosphorylation deficiency 7613559
C12orf6580.10.970.91Spastic paraplegia 55 autosomal recessive,615035
C15orf41117.610.99Dyserythropoietic anemia, congenital, type Ib,615631
C19orf1292.210.99Neurodegeneration with brain iron accumulation 4614298
C19orf1292.210.99?Spastic paraplegia 43 autosomal recessive,615043
C1GALT1C1146.211Tn polyagglutination syndrome, somatic,300622
C1QA101.110.98C1q deficiency,613652
C1QB151.411C1q deficiency,613652
C1QC192.111C1q deficiency,613652
C1QTNF5111.50.850.67Retinal degeneration, late-onset, autosomal dominant,605670
C1S12611C1s deficiency,613783
C213.70.50.17C2 deficiency,217000
C213.70.50.17{Macular degeneration, age-related, 14 reduced risk of},615489
C21orf59124.910.99Ciliary dyskinesia, primary, 26615500
C2orf71105.90.990.97Retinitis pigmentosa 54613428
C3135.210.99C3 deficiency,613779
C3135.210.99{Hemolytic uremic syndrome, atypical, susceptibility to, 5},612925
C3135.210.99{Macular degeneration, age-related, 9},611378
C4A17.60.660.31C4a deficiency,614380
C4A17.60.660.31[Blood group, Rodgers],614374
C4B140.610.17C4B deficiency,614379
C4orf26177.711Amelogenesis imperfecta, type IIA4,614832
C5121.50.960.91C5 deficiency,609536
C5121.50.960.91[Eculizumab, poor response to],615749
C5orf42112.40.980.94Joubert syndrome 17614615
C5orf42112.40.980.94Orofaciodigital syndrome VI,277170
C6145.510.99C6 deficiency,612446
C6145.510.99Combined C6/C7 deficiency612446
C7126.210.9C7 deficiency,610102
C7orf10112.50.950.91Glutaric aciduria III,231690
C8A102.610.99C8 deficiency, type I,613790
C8B120.410.98C8 deficiency, type II,613789
C8orf37100.110.99Cone-rod dystrophy 16614500
C8orf37100.110.99Retinitis pigmentosa 64614500
C9126.810.99C9 deficiency,613825
C9126.810.99{Macular degeneration, age-related, 15 susceptibility to},615591
C9orf72104.510.95Frontotemporal dementia and/or amyotrophic lateral sclerosis 1105550
CA12103.411Hyperchlorhidrosis, isolated,143860
CA2126.810.97Osteopetrosis, autosomal recessive 3 with renal tubular acidosis,259730
CA413310.98Retinitis pigmentosa 17600852
CA5A97.710.94Hyperammonemia due to carbonic anhydrase VA deficiency,615751
CA895.60.940.89Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3613227
CABP276.50.990.95Deafness, autosomal recessive 93614899
CABP493.410.99Cone-rod synaptic disorder, congenital nonprogressive,610427
CACNA1A82.30.940.89Episodic ataxia, type 2108500
CACNA1A82.30.940.89Migraine, familial hemiplegic, 1141500
CACNA1A82.30.940.89Migraine, familial hemiplegic, 1 with progressive cerebellar ataxia,141500
CACNA1A82.30.940.89Spinocerebellar ataxia 6183086
CACNA1C134.110.98Brugada syndrome 3611875
CACNA1C134.110.98Timothy syndrome,601005
CACNA1D135.810.99Primary aldosteronism, seizures, and neurologic abnormalities,615474
CACNA1D135.810.99Sinoatrial node dysfunction and deafness,614896
CACNA1F115.310.98Aland Island eye disease,300600
CACNA1F115.310.98Cone-rod dystrophy, X-linked, 3300476
CACNA1F115.310.98Night blindness, congenital stationary (incomplete), 2A, X-linked,300071
CACNA1G115.80.990.97Spinocerebellar ataxia 42616795
CACNA1H101.10.980.95Hyperaldosteronism, familial, type IV,617027
CACNA1H101.10.980.95{Epilepsy, childhood absence, susceptibility to, 6},611942
CACNA1H101.10.980.95{Epilepsy, idiopathic generalized, susceptibility to, 6},611942
CACNA1S120.710.99Hypokalemic periodic paralysis, type 1170400
CACNA1S120.710.99{Malignant hyperthermia susceptibility 5},601887
CACNA1S120.710.99{Thyrotoxic periodic paralysis, susceptibility to, 1},188580
CACNA2D498.10.980.96Retinal cone dystrophy 4610478
CACNB2129.50.990.95Brugada syndrome 4611876
CACNB41050.980.94Episodic ataxia, type 5613855
CACNB41050.980.94{Epilepsy, idiopathic generalized, susceptibility to, 9},607682
CACNB41050.980.94{Epilepsy, juvenile myoclonic, susceptibility to, 6},607682
CACNG2130.811Mental retardation, autosomal dominant 10614256
CALM1124.211Long QT syndrome 14616247
CALM1124.211Ventricular tachycardia, catecholaminergic polymorphic, 4614916
CALM2500.670.64Long QT syndrome 15616249
CALR90.610.94Myelofibrosis, somatic,254450
CALR90.610.94Thrombocythemia, somatic,187950
CAMTA1148.810.99Cerebellar ataxia, nonprogressive, with mental retardation,614756
CANT1125.111Desbuquois dysplasia 1251450
CAPN1130.211Spastic paraplegia 76 autosomal recessive,616907
CAPN3106.50.990.94Muscular dystrophy, limb-girdle, type 2A,253600
CAPN513210.93Vitreoretinopathy, neovascular inflammatory,193235
CARD111350.980.97B-cell expansion with NFKB and T-cell anergy,616452
CARD111350.980.97Immunodeficiency 11615206
CARD1495.70.990.95Pityriasis rubra pilaris,173200
CARD1495.70.990.95Psoriasis 2602723
CARD9101.80.970.95Candidiasis, familial, 2 autosomal recessive,212050
CARS2108.911Combined oxidative phosphorylation deficiency 27616672
CASC594.50.960.93Microcephaly 4 primary, autosomal recessive,604321
CASK123.810.99FG syndrome 4300422
CASK123.810.99Mental retardation and microcephaly with pontine and cerebellar hypoplasia,300749
CASK123.810.99Mental retardation, with or without nystagmus,300422
CASP1098.10.980.95Autoimmune lymphoproliferative syndrome, type II,603909
CASP1098.10.980.95Gastric cancer, somatic,613659
CASP1098.10.980.95Lymphoma, non-Hodgkin, somatic,605027
CASP8141.510.99Hepatocellular carcinoma, somatic,114550
CASP8141.510.99?Autoimmune lymphoproliferative syndrome, type IIB,607271
CASP8141.510.99{Breast cancer, protection against},114480
CASP8141.510.99{Lung cancer, protection against},211980
CASQ1102.410.99Myopathy, vacuolar, with CASQ1 aggregates,616231
CASQ2135.510.98Ventricular tachycardia, catecholaminergic polymorphic, 2611938
CASR141.50.990.99Hypercalciuric hypercalcemia611938
CASR141.50.990.99Hyperparathyroidism, neonatal,239200
CASR141.50.990.99Hypocalcemia, autosomal dominant,601198
CASR141.50.990.99Hypocalcemia, autosomal dominant, with Bartter syndrome,601198
CASR141.50.990.99Hypocalciuric hypercalcemia, type I,145980
CASR141.50.990.99{Calcium, serum level of}145980
CASR141.50.990.99{Epilepsy idiopathic generalized, susceptibility to, 8},612899
CAST97.40.940.91Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads,616295
CAT141.311Acatalasemia,614097
CATSPER1146.610.99Spermatogenic failure 7612997
CAV1209.711Pulmonary hypertension, primary, 3615343
CAV1209.711?Lipodystrophy, congenital generalized, type 3612526
CAV1209.711?Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome,606721
CAV3219.611Cardiomyopathy, familial hypertrophic,192600
CAV3219.611Creatine phosphokinase, elevated serum,123320
CAV3219.611Long QT syndrome 9611818
CAV3219.611Muscular dystrophy, limb-girdle, type IC,607801
CAV3219.611Myopathy, distal, Tateyama type,614321
CAV3219.611Rippling muscle disease,606072
CBL117.30.990.98Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia,613563
CBL117.30.990.98?Juvenile myelomonocytic leukemia,607785
CBS97.60.960.89Homocystinuria, B6-responsive and nonresponsive types,236200
CBS97.60.960.89Thrombosis, hyperhomocysteinemic,236200
CC2D1A102.110.98Mental retardation, autosomal recessive 3608443
CC2D2A111.90.990.96COACH syndrome,216360
CC2D2A111.90.990.96Joubert syndrome 9612285
CC2D2A111.90.990.96Meckel syndrome 6612284
CCBE163.10.950.84Hennekam lymphangiectasia-lymphedema syndrome 1235510
CCDC10388.110.97Ciliary dyskinesia, primary, 17614679
CCDC111400.970.94Heterotaxy, visceral, 6 autosomal recessive,614779
CCDC114106.510.99Ciliary dyskinesia, primary, 20615067
CCDC11569.50.890.88Congenital disorder of glycosylation, type IIo,616828
CCDC151105.710.98Ciliary dyskinesia, primary, 30616037
CCDC174102.30.950.91Hypotonia, infantile, with psychomotor retardation,616816
CCDC22114.10.980.94Ritscher-Schinzel syndrome 2300963
CCDC3979.10.950.9Ciliary dyskinesia, primary, 14613807
CCDC4099.40.980.98Ciliary dyskinesia, primary, 15613808
CCDC4195.60.940.87Nephronophthisis 18615862
CCDC657910.81Ciliary dyskinesia, primary, 27615504
CCDC7897.411Myopathy, centronuclear, 4614807
CCDC882.8113-M syndrome 3614205
CCDC88A71.60.950.83PEHO syndrome,260565
CCDC88C95.40.980.95Hydrocephalus, nonsyndromic, autosomal recessive,236600
CCDC88C95.40.980.95?Spinocerebellar ataxia 40616053
CCM2132.20.970.97Cerebral cavernous malformations-2,603284
CCND2143.111Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3615938
CCNO75.20.990.94Ciliary dyskinesia, primary, 29615872
CCT512510.99Neuropathy, hereditary sensory, with spastic paraplegia,256840
CD151116.911Nephropathy with pretibial epidermolysis bullosa and deafness,609057
CD151116.911[Blood group, Raph],179620
CD1977.810.98Immunodeficiency, common variable, 3613493
CD2784.20.990.92Lymphoproliferative syndrome 2615122
CD2AP81.80.990.96Glomerulosclerosis, focal segmental, 3607832
CD32077.710.99Methylmalonic aciduria due to transcobalamin receptor defect,613646
CD36113.110.97Platelet glycoprotein IV deficiency,608404
CD36113.110.97[Macrothrombocytopenia]608404
CD36113.110.97{Coronary heart disease, susceptibility to, 7},610938
CD36113.110.97{Malaria, cerebral, reduced risk of},611162
CD36113.110.97{Malaria, cerebral, susceptibility to},611162
CD3D166.111Immunodeficiency 19615617
CD3E164.410.99Immunodeficiency 18615615
CD3E164.410.99Immunodeficiency 18 SCID variant,615615
CD3G171.811Immunodeficiency 17 CD3 gamma deficient,615607
CD491.711OKT4 epitope deficiency,613949
CD40160.110.96Immunodeficiency with hyper-IgM, type 3606843
CD40LG174.20.990.99Immunodeficiency, X-linked, with hyper-IgM,308230
CD59196.10.90.84Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy,612300
CD79A12210.97Agammaglobulinemia 3613501
CD79B194.111Agammaglobulinemia 6612692
CD8112910.99Immunodeficiency, common variable, 6613496
CD8A89.80.980.97CD8 deficiency, familial,608957
CD96148.510.99C syndrome,211750
CDAN189.10.960.94Dyserythropoietic anemia, congenital, type Ia,224120
CDC14A1330.940.88Deafness,autosomal recessive 105,616958
CDC4280.80.970.93Takenouchi-Kosaki syndrome,616737
CDC45144.30.990.97Meier-Gorlin syndrome 7617063
CDC6148.510.99Meier-Gorlin syndrome 5613805
CDC7385.810.96Hyperparathyroidism, familial primary,145000
CDC7385.810.96Hyperparathyroidism-jaw tumor syndrome,145001
CDC7385.810.96Parathyroid adenoma with cystic changes,145001
CDC7385.810.96Parathyroid carcinoma,608266
CDCA785.30.980.95Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910
CDH194.40.990.97Endometrial carcinoma, somatic,608089
CDH194.40.990.97Gastric cancer, familial diffuse, with or without cleft lip and/or palate,137215
CDH194.40.990.97Ovarian carcinoma, somatic,167000
CDH194.40.990.97{Breast cancer, lobular},114480
CDH194.40.990.97{Prostate cancer, susceptibility to},176807
CDH15107.30.990.95Mental retardation, autosomal dominant 3612580
CDH23167.610.99Deafness, autosomal recessive 12601386
CDH23167.610.99Usher syndrome, type 1D,601067
CDH23167.610.99Usher syndrome, type 1D/F digenic,601067
CDH3121.80.990.95Ectodermal dysplasia, ectrodactyly, and macular dystrophy,225280
CDH3121.80.990.95Hypotrichosis, congenital, with juvenile macular dystrophy,601553
CDHR1130.310.98Cone-rod dystrophy 15613660
CDHR1130.310.98Retinitis pigmentosa 65613660
CDK5RAP2116.70.980.97Microcephaly 3 primary, autosomal recessive,604804
CDKL5138.60.990.96Epileptic encephalopathy, early infantile, 2300672
CDKN1B62.510.89Multiple endocrine neoplasia, type IV,610755
CDKN1C32.70.740.57Beckwith-Wiedemann syndrome,130650
CDKN1C32.70.740.57IMAGE syndrome,614732
CDKN2A63.10.920.9Melanoma and neural system tumor syndrome,155755
CDKN2A63.10.920.9Orolaryngeal cancer, multiple,155755
CDKN2A63.10.920.9Pancreatic cancer/melanoma syndrome,606719
CDKN2A63.10.920.9{Melanoma, cutaneous malignant, 2},155601
CDON118.910.98Holoprosencephaly 11614226
CDSN9.70.370.11Hypotrichosis 2146520
CDSN9.70.370.11Peeling skin syndrome 1270300
CDT169.20.930.88Meier-Gorlin syndrome 4613804
CEACAM16111.110.98Deafness, autosomal dominant 4B,614614
CEBPA41.30.860.61Leukemia, acute myeloid, somatic,601626
CEBPA41.30.860.61?Leukemia, acute myeloid,601626
CEBPE62.70.980.96Specific granule deficiency,245480
CECR185.910.97Polyarteritis nodosa, childhood-onset,615688
CECR185.910.97?Sneddon syndrome,182410
CEL109.20.840.81Maturity-onset diabetes of the young, type VIII,609812
CENPF121.40.990.97Stromme syndrome,243605
CENPJ129.40.990.95Microcephaly 6 primary, autosomal recessive,608393
CENPJ129.40.990.95?Seckel syndrome 4613676
CEP104106.20.980.96Joubert syndrome 25616781
CEP120117.410.98Short-rib thoracic dysplasia 13 with or without polydactyly,616300
CEP152157.80.970.94Microcephaly 9 primary, autosomal recessive,614852
CEP152157.80.970.94Seckel syndrome 5613823
CEP16474.40.980.93Nephronophthisis 15614845
CEP19173.511Morbid obesity and spermatogenic failure,615703
CEP29064.30.850.74Joubert syndrome 5610188
CEP29064.30.850.74Leber congenital amaurosis 10611755
CEP29064.30.850.74Meckel syndrome 4611134
CEP29064.30.850.74Senior-Loken syndrome 6610189
CEP29064.30.850.74?Bardet-Biedl syndrome 14615991
CEP4176.40.940.86Joubert syndrome 15614464
CEP5791.910.92Mosaic variegated aneuploidy syndrome 2614114
CERKL80.80.970.88Retinitis pigmentosa 26608380
CERS311511Ichthyosis, congenital, autosomal recessive 9615023
CES1129.510.97Carboxylesterase 1 deficiency,114835
CETP122.311Hyperalphalipoproteinemia,143470
CETP122.311[High density lipoprotein cholesterol level QTL 10],143470
CFC146.70.760.51Heterotaxy, visceral, 2 autosomal,605376
CFD72.20.850.81Complement factor D deficiency,613912
CFH156.90.980.95Basal laminar drusen,126700
CFH156.90.980.95Complement factor H deficiency,609814
CFH156.90.980.95{Hemolytic uremic syndrome, atypical, susceptibility to, 1},235400
CFH156.90.980.95{Macular degeneration, age-related, 4},610698
CFHR592.70.980.92Nephropathy due to CFHR5 deficiency,614809
CFI140.40.970.96Complement factor I deficiency,610984
CFI140.40.970.96{Hemolytic uremic syndrome, atypical, susceptibility to, 3},612923
CFI140.40.970.96{Macular degeneration, age-related, 13 susceptibility to},615439
CFL2118.30.850.84Nemaline myopathy 7 autosomal recessive,610687
CFP101.910.96Properdin deficiency,X-linked,312060
CFTR113.20.980.92Congenital bilateral absence of vas deferens,277180
CFTR113.20.980.92Cystic fibrosis,219700
CFTR113.20.980.92Sweat chloride elevation without CF219700
CFTR113.20.980.92{Bronchiectasis with or without elevated sweat chloride 1 modifier of},211400
CFTR113.20.980.92{Hypertrypsinemia, neonatal}211400
CFTR113.20.980.92{Pancreatitis, idiopathic},167800
CHAMP1149.411Mental retardation, autosomal dominant 40616579
CHAT110.90.90.83Myasthenic syndrome, congenital, 6 presynaptic,254210
CHCHD1022.10.390.33Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911
CHCHD1022.10.390.33Spinal muscular atrophy, Jokela type,615048
CHCHD1022.10.390.33?Myopathy, isolated mitochondrial, autosomal dominant,616209
CHCHD285.10.990.87Parkinson disease 22 autosomal dominant,616710
CHD2118.60.990.95Epileptic encephalopathy, childhood-onset,615369
CHD71260.990.98CHARGE syndrome,214800
CHD71260.990.98Hypogonadotropic hypogonadism 5 with or without anosmia,612370
CHEK288.10.830.76Li-Fraumeni syndrome,609265
CHEK288.10.830.76Osteosarcoma, somatic,259500
CHEK288.10.830.76{Breast and colorectal cancer, susceptibility to}259500
CHEK288.10.830.76{Breast cancer, susceptibility to},114480
CHEK288.10.830.76{Prostate cancer, familial, susceptibility to},176807
CHKB75.20.910.9Muscular dystrophy, congenital, megaconial type,602541
CHM132.90.990.97Choroideremia,303100
CHMP1A98.211Pontocerebellar hypoplasia, type 8614961
CHMP2B74.50.940.7Amyotrophic lateral sclerosis 17614696
CHMP2B74.50.940.7Dementia, familial, nonspecific,600795
CHMP4B113.210.98Cataract 31 multiple types,605387
CHN1131.20.970.97Duane retraction syndrome 2604356
CHRDL1143.211Megalocornea 1 X-linked309300
CHRNA1110.311Multiple pterygium syndrome, lethal type,253290
CHRNA1110.311Myasthenic syndrome, congenital, 1A, slow-channel,601462
CHRNA1110.311Myasthenic syndrome, congenital, 1B, fast-channel,608930
CHRNA2193.811Epilepsy, nocturnal frontal lobe, type 4610353
CHRNA4134.30.960.95Epilepsy, nocturnal frontal lobe, 1600513
CHRNA4134.30.960.95{Nicotine addiction, susceptibility to},188890
CHRNB1137.310.98Myasthenic syndrome, congenital, 2A, slow-channel,616313
CHRNB1137.310.98?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency,616314
CHRNB2187.50.990.97Epilepsy, nocturnal frontal lobe, 3605375
CHRND143.310.99Multiple pterygium syndrome, lethal type,253290
CHRND143.310.99Myasthenic syndrome, congenital, 3B, fast-channel,616322
CHRND143.310.99?Myasthenic syndrome, congenital, 3A, slow-channel,616321
CHRND143.310.99?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency,616323
CHRNE122.710.99Myasthenic syndrome, congenital, 4A, slow-channel,605809
CHRNE122.710.99Myasthenic syndrome, congenital, 4B, fast-channel,616324
CHRNE122.710.99Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency,608931
CHRNG153.511Escobar syndrome,265000
CHRNG153.511Multiple pterygium syndrome, lethal type,253290
CHST141450.940.93Ehlers-Danlos syndrome, musculocontractural type 1601776
CHST383.910.95Spondyloepiphyseal dysplasia with congenital joint dislocations,143095
CHST6262.411Macular corneal dystrophy,217800
CHSY1119.90.940.93Temtamy preaxial brachydactyly syndrome,605282
CHUK115.610.95Cocoon syndrome,613630
CIB2201.811Deafness, autosomal recessive 48609439
CIB2201.811Usher syndrome, type IJ,614869
CIITA105.410.98Bare lymphocyte syndrome, type II, complementation group A,209920
CIITA105.410.98{Rheumatoid arthritis, susceptibility to},180300
CIRH1A16311Cirrhosis, North American Indian childhood type,604901
CISD2122.80.830.83Wolfram syndrome 2604928
CITED299.511Atrial septal defect 8614433
CITED299.511Ventricular septal defect 2614431
CKAP2L162.40.990.94Filippi syndrome,272440
CLCF192.310.97Cold-induced sweating syndrome 2610313
CLCN1122.70.990.98Myotonia congenita, dominant,160800
CLCN1122.70.990.98Myotonia congenita, recessive,255700
CLCN1122.70.990.98Myotonia levior, recessive255700
CLCN293.210.97Leukoencephalopathy with ataxia,615651
CLCN293.210.97{Epilepsy, idiopathic generalized, susceptibility to, 11},607628
CLCN293.210.97{Epilepsy, juvenile absence, susceptibility to, 2},607628
CLCN293.210.97{Epilepsy, juvenile myoclonic, susceptibility to, 8},607628
CLCN4129.311Mental retardation, X-linked 49/15,300114
CLCN5152.60.990.99Dent disease,300009
CLCN5152.60.990.99Hypophosphatemic rickets,300554
CLCN5152.60.990.99Nephrolithiasis, type I,310468
CLCN5152.60.990.99Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis,308990
CLCN71180.980.96Osteopetrosis, autosomal dominant 2166600
CLCN71180.980.96Osteopetrosis, autosomal recessive 4611490
CLCNKA890.970.9Bartter syndrome, type 4b, digenic,613090
CLCNKB88.10.960.89Bartter syndrome, type 3607364
CLCNKB88.10.960.89Bartter syndrome, type 4b, digenic,613090
CLDN1125.411Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis,607626
CLDN14102.311Deafness, autosomal recessive 29614035
CLDN1613510.99Hypomagnesemia 3 renal,248250
CLDN19111.60.960.93Hypomagnesemia 5 renal, with ocular involvement,248190
CLEC7A119.310.98Candidiasis, familial, 4 autosomal recessive,613108
CLEC7A119.310.98{Aspergillosis, susceptibility to},614079
CLMP93.110.98Congenital short bowel syndrome,615237
CLN3104.910.96Ceroid lipofuscinosis, neuronal, 3204200
CLN5136.20.930.86Ceroid lipofuscinosis, neuronal, 5256731
CLN6110.20.950.92Ceroid lipofuscinosis, neuronal, 6601780
CLN6110.20.950.92Ceroid lipofuscinosis, neuronal, Kufs type, adult onset,204300
CLN8195.111Ceroid lipofuscinosis, neuronal, 8600143
CLN8195.111Ceroid lipofuscinosis, neuronal, 8 Northern epilepsy variant,610003
CLP1147.811Pontocerebellar hypoplasia, type 10615803
CLPB118.30.960.963-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia,616271
CLPP94.80.960.87Perrault syndrome 3614129
CLRN112611Retinitis pigmentosa 61614180
CLRN112611Usher syndrome, type 3A,276902
CNBP107.611Myotonic dystrophy 2,602668
CNGA1102.30.840.8Retinitis pigmentosa 49613756
CNGA3139.410.97Achromatopsia-2,216900
CNGB190.50.980.94Retinitis pigmentosa 45613767
CNGB398.50.990.87Achromatopsia-3,262300
CNGB398.50.990.87Macular degeneration, juvenile,248200
CNNM2162.310.99Hypomagnesemia 6 renal,613882
CNNM2162.310.99Hypomagnesemia, seizures, and mental retardation,616418
CNNM4161.80.980.97Jalili syndrome,217080
CNTNAP1137.70.980.96Lethal congenital contracture syndrome 7616286
CNTNAP2121.910.99Cortical dysplasia-focal epilepsy syndrome,610042
CNTNAP2121.910.99Pitt-Hopkins like syndrome 1610042
CNTNAP2121.910.99{Autism susceptibility 15},612100
COA657.90.970.87Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501
COASY133.911Neurodegeneration with brain iron accumulation 6615643
COCH191.20.990.99Deafness, autosomal dominant 9601369
COG1109.910.99Congenital disorder of glycosylation, type IIg,611209
COG4113.310.99Congenital disorder of glycosylation, type IIj,613489
COG597.30.930.92Congenital disorder of glycosylation, type IIi,613612
COG676.50.920.79Congenital disorder of glycosylation, type IIl,614576
COG676.50.920.79Shaheen syndrome,615328
COG7115.511Congenital disorder of glycosylation, type IIe,608779
COG8103.50.990.88Congenital disorder of glycosylation, type IIh,611182
COL10A181.110.91Metaphyseal chondrodysplasia, Schmid type,156500
COL11A179.70.920.89Fibrochondrogenesis 1228520
COL11A179.70.920.89Marshall syndrome,154780
COL11A179.70.920.89Stickler syndrome, type II,604841
COL11A179.70.920.89{Lumbar disc herniation, susceptibility to},603932
COL11A210.10.410.11Deafness, autosomal dominant 13601868
COL11A210.10.410.11Deafness, autosomal recessive 53609706
COL11A210.10.410.11Fibrochondrogenesis 2614524
COL11A210.10.410.11Otospondylomegaepiphyseal dysplasia,215150
COL11A210.10.410.11Stickler syndrome, type III,184840
COL11A210.10.410.11Weissenbacher-Zweymuller syndrome,277610
COL12A1122.20.990.97Bethlem myopathy 2616471
COL12A1122.20.990.97?Ullrich congenital muscular dystrophy 2616470
COL13A175.110.96Myasthenic syndrome, congenital, 19616720
COL17A197.40.970.93Epidermolysis bullosa, junctional, localisata variant,226650
COL17A197.40.970.93Epidermolysis bullosa, junctional, non-Herlitz type,226650
COL17A197.40.970.93Epithelial recurrent erosion dystrophy,122400
COL18A175.90.930.85Knobloch syndrome, type 1267750
COL1A11180.970.94Caffey disease,114000
COL1A11180.970.94Ehlers-Danlos syndrome, classic,130000
COL1A11180.970.94Ehlers-Danlos syndrome, type VIIA,130060
COL1A11180.970.94Osteogenesis imperfecta, type I,166200
COL1A11180.970.94Osteogenesis imperfecta, type II,166210
COL1A11180.970.94Osteogenesis imperfecta, type III,259420
COL1A11180.970.94Osteogenesis imperfecta, type IV,166220
COL1A11180.970.94{Bone mineral density variation QTL, osteoporosis},166710
COL1A290.70.950.91Ehlers-Danlos syndrome, cardiac valvular form,225320
COL1A290.70.950.91Ehlers-Danlos syndrome, type VIIB,130060
COL1A290.70.950.91Osteogenesis imperfecta, type II,166210
COL1A290.70.950.91Osteogenesis imperfecta, type III,259420
COL1A290.70.950.91Osteogenesis imperfecta, type IV,166220
COL1A290.70.950.91{Osteoporosis, postmenopausal},166710
COL25A1109.30.990.92Fibrosis of extraocular muscles, congenital, 5616219
COL2A192.210.98Achondrogenesis, type II or hypochondrogenesis,200610
COL2A192.210.98Avascular necrosis of the femoral head,608805
COL2A192.210.98Czech dysplasia,609162
COL2A192.210.98Epiphyseal dysplasia, multiple, with myopia and deafness,132450
COL2A192.210.98Kniest dysplasia,156550
COL2A192.210.98Legg-Calve-Perthes disease,150600
COL2A192.210.98Osteoarthritis with mild chondrodysplasia,604864
COL2A192.210.98Otospondylomegaepiphyseal dysplasia,215150
COL2A192.210.98Platyspondylic skeletal dysplasia, Torrance type,151210
COL2A192.210.98SED congenita,183900
COL2A192.210.98SMED Strudwick type,184250
COL2A192.210.98Spondyloepiphyseal dysplasia, Stanescu type,616583
COL2A192.210.98Spondyloperipheral dysplasia,271700
COL2A192.210.98Stickler sydrome, type I, nonsyndromic ocular,609508
COL2A192.210.98Stickler syndrome, type I,108300
COL2A192.210.98Vitreoretinopathy with phalangeal epiphyseal dysplasia108300
COL3A194.90.960.86Ehlers-Danlos syndrome, type IV,130050
COL4A179.50.970.88Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps,611773
COL4A179.50.970.88Brain small vessel disease with or without ocular anomalies,607595
COL4A179.50.970.88Porencephaly 1175780
COL4A179.50.970.88?Retinal arteries, tortuosity of,180000
COL4A179.50.970.88{Hemorrhage, intracerebral, susceptibility to},614519
COL4A285.60.980.93Porencephaly 2614483
COL4A285.60.980.93{Hemorrhage, intracerebral, susceptibility to},614519
COL4A377.40.970.95Alport syndrome, autosomal dominant,104200
COL4A377.40.970.95Alport syndrome, autosomal recessive,203780
COL4A377.40.970.95Hematuria, benign familial,141200
COL4A3BP111.20.980.92Mental retardation, autosomal dominant 34616351
COL4A472.40.970.91Alport syndrome, autosomal recessive,203780
COL4A472.40.970.91Hematuria, familial benign203780
COL4A561.50.950.81Alport syndrome,301050
COL5A1105.40.990.95Ehlers-Danlos syndrome, classic type,130000
COL5A274.20.990.95Ehlers-Danlos syndrome, classic type,130000
COL6A1128.30.990.97Bethlem myopathy 1158810
COL6A1128.30.990.97Ullrich congenital muscular dystrophy 1254090
COL6A2132.410.98Bethlem myopathy 1158810
COL6A2132.410.98Ullrich congenital muscular dystrophy 1254090
COL6A2132.410.98?Myosclerosis, congenital,255600
COL6A3145.410.99Bethlem myopathy 1158810
COL6A3145.410.99Dystonia 27616411
COL6A3145.410.99Ullrich congenital muscular dystrophy 1254090
COL7A1114.80.990.97EBD inversa,226600
COL7A1114.80.990.97EBD, Bart type,132000
COL7A1114.80.990.97EBD, localisata variant132000
COL7A1114.80.990.97Epidermolysis bullosa dystrophica, AD,131750
COL7A1114.80.990.97Epidermolysis bullosa dystrophica, AR,226600
COL7A1114.80.990.97Epidermolysis bullosa pruriginosa,604129
COL7A1114.80.990.97Epidermolysis bullosa, pretibial,131850
COL7A1114.80.990.97Toenail dystrophy, isolated,607523
COL7A1114.80.990.97Transient bullous of the newborn,131705
COL8A228.70.870.7Corneal dystrophy, Fuchs endothelial, 1136800
COL8A228.70.870.7Corneal dystrophy, posterior polymorphous 2609140
COL9A1100.30.990.95Stickler syndrome, type IV,614134
COL9A1100.30.990.95/?Epiphyseal dysplasia, multiple, 6614135
COL9A252.70.960.88Epiphyseal dysplasia, multiple, 2600204
COL9A252.70.960.88?Stickler syndrome, type V,614284
COL9A252.70.960.88{Intervertebral disc disease, susceptibility to},603932
COL9A362.20.960.87Epiphyseal dysplasia, multiple, 3 with or without myopathy,600969
COL9A362.20.960.87{Intervertebral disc disease, susceptibility to},603932
COLEC11168113MC syndrome 2265050
COLQ96.910.94Myasthenic syndrome, congenital, 5603034
COMP114.50.930.92Epiphyseal dysplasia, multiple, 1132400
COMP114.50.930.92Pseudoachondroplasia,177170
COQ268.40.960.93Coenzyme Q10 deficiency, primary, 1607426
COQ268.40.960.93{Multiple system atrophy, susceptibility to},146500
COQ4760.860.83Coenzyme Q10 deficiency, primary, 7616276
COQ6114.70.990.96Coenzyme Q10 deficiency, primary, 6614650
COQ981.410.94Coenzyme Q10 deficiency, primary, 5614654
CORIN150.70.990.98Preeclampsia/eclampsia 5614595
CORO1A144.50.970.92Immunodeficiency 8615401
COX10194.911Leigh syndrome due to mitochondrial COX4 deficiency,256000
COX10194.911Mitochondrial complex IV deficiency,220110
COX1586.610.98Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119
COX1586.610.98Leigh syndrome due to cytochrome c oxidase deficiency,256000
COX2042.60.890.61Mitochondrial complex IV deficiency,220110
COX4I291.911Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis,612714
COX6A1154.411Charcot-Marie-Tooth disease, recessive intermediate D,616039
COX6B1126.511Mitochondrial complex IV deficiency,220110
COX7B52.30.770.42Linear skin defects with multiple congenital anomalies,300887
CP115.40.960.88Cerebellar ataxia,604290
CP115.40.960.88Hemosiderosis, systemic, due to aceruloplasminemia,604290
CP115.40.960.88[Hypoceruloplasminemia, hereditary],604290
CPA6113.811Epilepsy, familial temporal lobe, 5614417
CPA6113.811Febrile seizures, familial, 11614418
CPN1109.30.990.97Carboxypeptidase N deficiency,212070
CPOX95.30.960.81Coproporphyria,121300
CPOX95.30.960.81Harderoporphyria,121300
CPS113310.99Carbamoylphosphate synthetase I deficiency,237300
CPS113310.99{Pulmonary hypertension, neonatal, susceptibility to},615371
CPS113310.99{Venoocclusive disease after bone marrow transplantation}615371
CPT1A15110.97CPT deficiency, hepatic, type IA,255120
CPT2136.90.980.96CPT deficiency, hepatic, type II,600649
CPT2136.90.980.96CPT II deficiency, lethal neonatal,608836
CPT2136.90.980.96Myopathy due to CPT II deficiency,255110
CPT2136.90.980.96{Encephalopathy, acute, infection-induced, 4 susceptibility to},614212
CR2145.210.99Immunodeficiency, common variable, 7614699
CR2145.210.99{Systemic lupus erythematosus, susceptibility to, 9},610927
CRADD97.90.980.95Mental retardation, autosomal recessive 34614499
CRB1189.411Leber congenital amaurosis 8613835
CRB1189.411Pigmented paravenous chorioretinal atrophy,172870
CRB1189.411Retinitis pigmentosa-12, autosomal recessive,600105
CRB2920.990.93Focal segmental glomerulosclerosis 9616220
CRB2920.990.93Ventriculomegaly with cystic kidney disease,219730
CRBN126.210.93Mental retardation, autosomal recessive 2607417
CREB1116.10.990.86Histiocytoma, angiomatoid fibrous, somatic,612160
CREBBP115.70.990.95Rubinstein-Taybi syndrome,180849
CRELD193.511Atrioventricular septal defect, partial, with heterotaxy syndrome,606217
CRELD193.511{Atrioventricular septal defect, susceptibility to, 2},606217
CRIPT34.90.930.67Short stature with microcephaly and distinctive facies,615789
CRLF194.70.90.88Cold-induced sweating syndrome 1272430
CRTAP88.110.92Osteogenesis imperfecta, type VII,610682
CRTC1114.80.970.89Mucoepidermoid salivary gland carcinoma610682
CRX93.60.990.97Cone-rod retinal dystrophy-2,120970
CRX93.60.990.97Leber congenital amaurosis 7613829
CRYAA101.30.920.83Cataract 9 multiple types,604219
CRYAB102.60.980.93Cardiomyopathy, dilated, 1II,615184
CRYAB102.60.980.93Cataract 16 multiple types,613763
CRYAB102.60.980.93Myopathy, myofibrillar, 2608810
CRYAB102.60.980.93Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related,613869
CRYBA1120.610.99Cataract 10 multiple types,600881
CRYBA497.311Cataract 23610425
CRYBB1100.810.98Cataract 17 multiple types,611544
CRYBB2146.511Cataract 3 multiple types,601547
CRYBB3113.211Cataract 22 autosomal recessive,609741
CRYGB86.910.98Cataract 39 multiple types, autosomal dominant,615188
CRYGC109.411Cataract 2 multiple types,604307
CRYGD77.711Cataract 4 multiple types,115700
CRYGS1120.940.83Cataract 20 multiple types,116100
CRYM7910.98Deafness, autosomal dominant 40616357
CSF1R108.80.990.97Leukoencephalopathy, diffuse hereditary, with spheroids,221820
CSF2RA520.890.85Surfactant metabolism dysfunction, pulmonary, 4300770
CSF2RB78.210.99Surfactant metabolism dysfunction, pulmonary, 5614370
CSNK1D149.80.940.92Advanced sleep-phase syndrome, familial, 2615224
CSNK2A1112.50.960.84Okur-Chung neurodevelopmental syndrome,617062
CSNK2A1112.50.960.84Glaucoma, primary congenital (Lee -2011 Mol Vis 17,3583)617062
CSPP197.80.990.93Joubert syndrome 21615636
CSRP310010.99Cardiomyopathy, hypertrophic, 12612124
CSRP310010.99?Cardiomyopathy, dilated, 1M,607482
CST398.80.90.82Cerebral amyloid angiopathy,105150
CST398.80.90.82{Macular degeneration, age-related, 11},611953
CSTA92.510.99Peeling skin syndrome 4607936
CSTB90.311Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg),254800
CTC191.610.99Cerebroretinal microangiopathy with calcifications and cysts,612199
CTCF139.60.970.96Mental retardation, autosomal dominant 21615502
CTDP192.70.870.83Congenital cataracts, facial dysmorphism, and neuropathy,604168
CTH156.910.99Cystathioninuria,219500
CTH156.910.99Homocysteine, total plasma, elevated219500
CTHRC188.40.980.81Barrett esophagus/esophageal adenocarcinoma,614266
CTLA4176.411Autoimmune lymphoproliferative syndrome, type V,616100
CTLA4176.411{Celiac disease, susceptibility to, 3},609755
CTLA4176.411{Diabetes mellitus, insulin-dependent, 12},601388
CTLA4176.411{Hashimoto thyroiditis},140300
CTLA4176.411{Systemic lupus erythematosus, susceptibility to},152700
CTNNA1120.40.990.96Macular dystrophy,patterned,608970
CTNNA1120.40.990.96Gastric cancer, diffuse (Majewski -2012 J Pathol epub)608970
CTNNA3136.810.99Arrhythmogenic right ventricular dysplasia, familial, 13615616
CTNNB1142.111Colorectal cancer, somatic,114500
CTNNB1142.111Hepatocellular carcinoma, somatic,114550
CTNNB1142.111Mental retardation, autosomal dominant 19615075
CTNNB1142.111Ovarian cancer, somatic,167000
CTNNB1142.111Pilomatricoma, somatic,132600
CTNS113.811Cystinosis, atypical nephropathic,219800
CTNS113.811Cystinosis, late-onset juvenile or adolescent nephropathic,219900
CTNS113.811Cystinosis, nephropathic,219800
CTNS113.811Cystinosis, ocular nonnephropathic,219750
CTPS112111Immunodeficiency 24615897
CTSA113.111Galactosialidosis,256540
CTSC119.911Haim-Munk syndrome,245010
CTSC119.911Papillon-Lefevre syndrome,245000
CTSC119.911Periodontitis 1 juvenile,170650
CTSD152.110.97Ceroid lipofuscinosis, neuronal, 10610127
CTSF92.50.910.81Ceroid lipofuscinosis, neuronal, 13 Kufs type,615362
CTSK98.411Pycnodysostosis,265800
CUBN1130.990.96Megaloblastic anemia-1, Finnish type,261100
CUL3102.10.950.9Pseudohypoaldosteronism, type IIE,614496
CUL4B89.50.980.96Mental retardation, X-linked, syndromic 15 (Cabezas type),300354
CUL7122.310.983-M syndrome 1273750
CXCR4149.410.97Myelokathexis, isolated273750
CXCR4149.410.97WHIM syndrome,193670
CYB5A110.211Methemoglobinemia, type IV,250790
CYB5R3157.70.980.98Methemoglobinemia, type I,250800
CYB5R3157.70.980.98Methemoglobinemia, type II,250800
CYBA83.70.810.72Chronic granulomatous disease, autosomal, due to deficiency of CYBA,233690
CYBB141.611Chronic granulomatous disease, X-linked,306400
CYBB141.611Immunodeficiency 34 mycobacteriosis, X-linked,300645
CYC1159.50.870.86Mitochondrial complex III deficiency, nuclear type 6615453
CYCS66.60.990.99Thrombocytopenia 4612004
CYLD108.20.950.93Brooke-Spiegler syndrome,605041
CYLD108.20.950.93Cylindromatosis, familial,132700
CYLD108.20.950.93Trichoepithelioma, multiple familial, 1601606
CYP11A1101.70.990.96Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete,613743
CYP11B1140.111Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency,202010
CYP11B1140.111Aldosteronism, glucocorticoid-remediable,103900
CYP11B2150.411Aldosterone to renin ratio raised103900
CYP11B2150.411Hypoaldosteronism, congenital, due to CMO I deficiency,203400
CYP11B2150.411Hypoaldosteronism, congenital, due to CMO II deficiency,610600
CYP11B2150.411{Low renin hypertension, susceptibility to}610600
CYP17A1109.410.9917,20-lyase deficiency, isolated,202110
CYP17A1109.410.9917-alpha-hydroxylase/17,20-lyase deficiency,202110
CYP19A1163.611Aromatase deficiency,613546
CYP19A1163.611Aromatase excess syndrome,139300
CYP1B198.610.94Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset,231300
CYP1B198.610.94Peters anomaly,604229
CYP21A2110.480.09Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency,201910
CYP21A2110.480.09Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency,201910
CYP24A1148.910.99Hypercalcemia, infantile,143880
CYP26B1146.710.99Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies,614416
CYP26C165.510.97Focal facial dermal dysplasia 4614974
CYP27A1158.70.940.93Cerebrotendinous xanthomatosis,213700
CYP27B198.60.990.94Vitamin D-dependent rickets, type I,264700
CYP2A6119.310.96Coumarin resistance,122700
CYP2A6119.310.96{Lung cancer, resistance to},211980
CYP2A6119.310.96{Nicotine addiction, protection from},188890
CYP2C8103.40.970.95Rhabdomyolysis, cerivastatin-induced,601129
CYP2R1119.60.960.88Rickets due to defect in vitamin D 25-hydroxylation,600081
CYP2U1115.40.950.92Spastic paraplegia 56 autosomal recessive,615030
CYP4F22103.410.97Ichthyosis, congenital, autosomal recessive 5604777
CYP4V215210.98Bietti crystalline corneoretinal dystrophy,210370
CYP7B1880.960.88Bile acid synthesis defect, congenital, 3613812
CYP7B1880.960.88Spastic paraplegia 5A, autosomal recessive,270800
D2HGDH112.50.950.92D-2-hydroxyglutaric aciduria,600721
DAG1164.911Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9616538
DAG1164.911Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9613818
DARS93.30.990.93Hypomyelination with brainstem and spinal cord involvement and leg spasticity,615281
DARS2112.210.98Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation,611105
DBH124.510.99Dopamine beta-hydroxylase deficiency,223360
DBH124.510.99[Dopamine-beta-hydroxylase activity levels, plasma]223360
DBT98.90.940.94Maple syrup urine disease, type II,248600
DCAF1784.210.91Woodhouse-Sakati syndrome,241080
DCC130.511Colorectal cancer, somatic,114500
DCC130.511Esophageal carcinoma, somatic133239
DCC130.511Mirror movements 1157600
DCDC2125.610.98Nephronophthisis 19616217
DCDC2125.610.98?Deafness, autosomal recessive 66610212
DCHS1126.60.980.97Mitral valve prolapse 2607829
DCHS1126.60.980.97Van Maldergem syndrome 1601390
DCLRE1C117.30.960.9Omenn syndrome,603554
DCLRE1C117.30.960.9Severe combined immunodeficiency, Athabascan type,602450
DCN1330.950.94Corneal dystrophy, congenital stromal,610048
DCPS118.210.99Al-Raqad syndrome,616459
DCTN1110.210.99Neuropathy, distal hereditary motor, type VIIB,607641
DCTN1110.210.99Perry syndrome,168605
DCTN1110.210.99{Amyotrophic lateral sclerosis, susceptibility to},105400
DCX139.711Lissencephaly, X-linked,300067
DCX139.711Subcortical laminal heteropia, X-linked,300067
DDB2127.910.99Xeroderma pigmentosum, group E, DDB-negative subtype,278740
DDC97.610.97Aromatic L-amino acid decarboxylase deficiency,608643
DDHD1132.80.970.93Spastic paraplegia 28 autosomal recessive,609340
DDHD2148.210.99Spastic paraplegia 54 autosomal recessive,615033
DDR2133.710.98Spondylometaepiphyseal dysplasia, short limb-hand type,271665
DDX1176.10.760.73Warsaw breakage syndrome,613398
DDX3X114.80.990.97Mental retardation, X-linked 102300958
DDX58124.30.990.98Singleton-Merten syndrome 2616298
DDX59143.80.990.98Orofaciodigital syndrome V,174300
DEAF1126.70.870.83Mental retardation, autosomal dominant 24615828
DEPDC5127.20.990.99Epilepsy, familial focal, with variable foci,604364
DES105.110.96Cardiomyopathy, dilated, 1I,604765
DES105.110.96Myopathy, myofibrillar, 1601419
DES105.110.96Scapuloperoneal syndrome, neurogenic, Kaeser type,181400
DES105.110.96?Muscular dystrophy, limb-girdle, type 2R,615325
DFNA596.210.97Deafness, autosomal dominant 5600994
DFNB59127.411Deafness, autosomal recessive 59610220
DGKE126.10.960.93Nephrotic syndrome, type 7615008
DGKE126.10.960.93{Hemolytic uremic syndrome, atypical, susceptibility to, 7},615008
DGUOK117.310.97Mitochondrial DNA depletion syndrome 3 (hepatocerebral type),251880
DHCR24154.911Desmosterolosis,602398
DHCR7147.711Smith-Lemli-Opitz syndrome,270400
DHDDS89.10.960.92Retinitis pigmentosa 59613861
DHFR44.30.790.69Megaloblastic anemia due to dihydrofolate reductase deficiency,613839
DHH92.51146XY partial gonadal dysgenesis, with minifascicular neuropathy,607080
DHH92.51146XY sex reversal 7233420
DHODH91.411Miller syndrome,263750
DHTKD1130.20.990.982-aminoadipic 2-oxoadipic aciduria,204750
DHTKD1130.20.990.98?Charcot-Marie-Tooth disease, axonal, type 2Q,615025
DIABLO200.711Deafness, autosomal dominant 64614152
DIAPH1108.40.990.96Deafness, autosomal dominant 1124900
DIAPH1108.40.990.96Seizures, cortical blindness, microcephaly syndrome,616632
DIAPH271.60.940.89Premature ovarian failure,300511
DIAPH374.50.960.86Auditory neuropathy, autosomal dominant, 1609129
DICER11380.990.96Goiter, multinodular 1 with or without Sertoli-Leydig cell tumors,138800
DICER11380.990.96Pleuropulmonary blastoma,601200
DICER11380.990.96Rhabdomyosarcoma, embryonal, 2180295
DIP2B146.60.990.97Mental retardation, FRA12A type,136630
DIS3L2146.810.97Perlman syndrome,267000
DKC1143.311Dyskeratosis congenita, X-linked,305000
DLAT78.710.91Pyruvate dehydrogenase E2 deficiency,245348
DLC1167.410.98Colorectal cancer, somatic,114500
DLD110.90.980.97Dihydrolipoamide dehydrogenase deficiency,246900
DLG3114.210.98Mental retardation, X-linked 90300850
DLL358.50.880.76Spondylocostal dysostosis 1 autosomal recessive,277300
DLL4170.90.990.97Adams-Oliver syndrome 6616589
DLX3102.910.99Amelogenesis imperfecta, type IV,104510
DLX3102.910.99Trichodontoosseous syndrome,190320
DMD152.90.990.99Becker muscular dystrophy,300376
DMD152.90.990.99Cardiomyopathy, dilated, 3B,302045
DMD152.90.990.99Duchenne muscular dystrophy,310200
DMGDH138.40.980.95Dimethylglycine dehydrogenase deficiency,605850
DMP1138.40.970.96Hypophosphatemic rickets, AR,241520
DMPK980.970.89Myotonic dystrophy 1160900
DNA2120.10.990.95Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156
DNA2120.10.990.95?Seckel syndrome 8615807
DNAAF1109.910.96Ciliary dyskinesia, primary, 13613193
DNAAF290.710.94Ciliary dyskinesia, primary, 10612518
DNAAF374.50.990.9Ciliary dyskinesia, primary, 2606763
DNAH11121.40.990.97Ciliary dyskinesia, primary, 7 with or without situs inversus,611884
DNAH5114.90.990.98Ciliary dyskinesia, primary, 3 with or without situs inversus,608644
DNAI1102.10.970.95Ciliary dyskinesia, primary, 1 with or without situs inversus,244400
DNAI2129.90.950.93Ciliary dyskinesia, primary, 9 with or without situs inversus,612444
DNAJB292.710.99Spinal muscular atrophy, distal, autosomal recessive, 5614881
DNAJB653.20.930.78Muscular dystrophy, limb-girdle, type 1E,603511
DNAJC1984.50.990.983-methylglutaconic aciduria, type V,610198
DNAJC21112.70.980.96Bone marrow failure syndrome 3617052
DNAJC5166.211Ceroid lipofuscinosis, neuronal, 4 Parry type,162350
DNAJC6147.40.990.98Parkinson disease 19 juvenile-onset,615528
DNAL192.50.990.73Ciliary dyskinesia, primary, 16614017
DNASE1L3121.911Systemic lupus erythematosus 16614420
DNM1138.30.930.89Epileptic encephalopathy, early infantile, 31616346
DNM1L103.10.990.91Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission,614388
DNM2110.90.960.94Charcot-Marie-Tooth disease, axonal, type 2M,606482
DNM2110.90.960.94Charcot-Marie-Tooth disease, dominant intermediate B,606482
DNM2110.90.960.94Lethal congenital contracture syndrome 5615368
DNM2110.90.960.94Myopathy, centronuclear,160150
DNMT11070.990.99Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,604121
DNMT11070.990.99Neuropathy, hereditary sensory, type IE,614116
DNMT3A95.60.960.93Tatton-Brown-Rahman syndrome,615879
DNMT3B109.310.99Immunodeficiency-centromeric instability-facial anomalies syndrome 1242860
DOCK2126.711Immunodeficiency 40616433
DOCK6105.30.990.96Adams-Oliver syndrome 2614219
DOCK7101.10.960.93Epileptic encephalopathy, early infantile, 23615859
DOCK8122.710.99Hyper-IgE recurrent infection syndrome, autosomal recessive,243700
DOK777.50.960.91Myasthenic syndrome, congenital, 10254300
DOK777.50.960.91?Fetal akinesia deformation sequence,208150
DOLK153.710.99Congenital disorder of glycosylation, type Im,610768
DPAGT196.611Congenital disorder of glycosylation, type Ij,608093
DPAGT196.611Myasthenic syndrome, congenital, 13 with tubular aggregates,614750
DPH1148.210.99Developmental delay with short stature,dysmorphic features and sparse hair,616901
DPM1105.80.90.86Congenital disorder of glycosylation, type Ie,608799
DPM294.210.99Congenital disorder of glycosylation, type Iu,615042
DPM3147.711Congenital disorder of glycosylation, type Io,612937
DPP6121.70.990.95Mental retardation, autosomal dominant 33616311
DPP6121.70.990.95{Ventricular fibrillation, paroxysmal familial, 2},612956
DPY19L264.20.740.68Spermatogenic failure 9613958
DPYD145.10.950.935-fluorouracil toxicity,274270
DPYD145.10.950.93Dihydropyrimidine dehydrogenase deficiency,274270
DPYS109.110.99Dihydropyrimidinuria,222748
DRAM2127.211Cone-rod dystrophy 21616502
DRC18910.99Ciliary dyskinesia, primary, 21615294
DRD473.30.770.66Autonomic nervous system dysfunction615294
DRD473.30.770.66[Novelty seeking personality],601696
DRD473.30.770.66{Attention deficit-hyperactivity disorder},143465
DRD572.711Dystonia, primary cervical,126453
DRD572.711{Attention deficit-hyperactivity disorder, susceptibility to},143465
DRD572.711{Blepharospasm, primary benign},606798
DSC2124.30.990.95Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair,606798
DSC2124.30.990.95Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair,610476
DSC2124.30.990.95Arrhythmogenic right ventricular dysplasia 11610476
DSG1152.50.980.97Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE,615508
DSG1152.50.980.97Keratosis palmoplantaris striata I, AD,148700
DSG2115.310.99Arrhythmogenic right ventricular dysplasia 10610193
DSG2115.310.99Cardiomyopathy, dilated, 1BB,612877
DSG4195.10.980.94Hypotrichosis 6607903
DSP122.610.98Arrhythmogenic right ventricular dysplasia 8607450
DSP122.610.98Cardiomyopathy, dilated, with woolly hair and keratoderma,605676
DSP122.610.98Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis,615821
DSP122.610.98Epidermolysis bullosa, lethal acantholytic,609638
DSP122.610.98Keratosis palmoplantaris striata II,612908
DSP122.610.98Skin fragility-woolly hair syndrome,607655
DSPP134.711Deafness, autosomal dominant 39 with dentinogenesis,605594
DSPP134.711Dentin dysplasia, type II,125420
DSPP134.711Dentinogenesis imperfecta, Shields type II,125490
DSPP134.711Dentinogenesis imperfecta, Shields type III,125500
DST147.60.990.97Epidermolysis bullosa simplex, autosomal recessive 2615425
DST147.60.990.97?Neuropathy, hereditary sensory and autonomic, type VI,614653
DTNA146.811Left ventricular noncompaction 1 with or without congenital heart defects,604169
DTNBP1108.510.96Hermansky-Pudlak syndrome 7614076
DUOX2116.10.940.92Thryoid dyshormonogenesis 6607200
DUOXA2112.311Thyroid dyshormonogenesis 5274900
DUSP6133.410.99Hypogonadotropic hypogonadism 19 with or without anosmia,615269
DVL195.10.980.91Robinow syndrome, autosomal dominant 2616331
DVL3129.710.99Robinow syndrome, autosomal dominant 3,616894
DYM101.50.950.9Dyggve-Melchior-Clausen disease,223800
DYM101.50.950.9Smith-McCort dysplasia,607326
DYNC1H1157.810.99Charcot-Marie-Tooth disease, axonal, type 20614228
DYNC1H1157.810.99Mental retardation, autosomal dominant 13614563
DYNC1H1157.810.99Spinal muscular atrophy, lower extremity-predominant 1 AD,158600
DYNC2H1830.940.83Short-rib thoracic dysplasia 3 with or without polydactyly,613091
DYNC2LI189.210.95Short-rib thoracic dysplasia 15 with polydactyly,617088
DYRK1A136.711Mental retardation, autosomal dominant 7614104
DYRK1B86.20.940.93Abdominal obesity-metabolic syndrome 3615812
DYSF114.210.99Miyoshi muscular dystrophy 1254130
DYSF114.210.99Muscular dystrophy, limb-girdle, type 2B,253601
DYSF114.210.99Myopathy, distal, with anterior tibial onset,606768
DYX1C165.10.990.75Ciliary dyskinesia, primary, 25615482
DYX1C165.10.990.75{Dyslexia, susceptibility to, 1},127700
EARS278.80.980.96Combined oxidative phosphorylation deficiency 12614924
EBP80.210.96Chondrodysplasia punctata, X-linked dominant,302960
EBP80.210.96MEND syndrome,300960
ECE1140.10.970.93Hirschsprung disease, cardiac defects, and autonomic dysfunction,613870
ECE1140.10.970.93{Hypertension, essential, susceptibility to},145500
ECEL183.60.870.83Arthrogryposis, distal, type 5D,615065
ECHS1108.411Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency,616277
ECM1141.910.99Urbach-Wiethe disease,247100
EDA103.50.970.8Ectodermal dysplasia 1 hypohidrotic, X-linked,305100
EDA103.50.970.8Tooth agenesis, selective, X-linked 1313500
EDAR110.20.980.95Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant,129490
EDAR110.20.980.95Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive,224900
EDAR110.20.980.95[Hair morphology 1 hair thickness],612630
EDARADD87.40.990.9Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant,614940
EDARADD87.40.990.9Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive,614941
EDN1122.311Auriculocondylar syndrome 3615706
EDN1122.311Question mark ears, isolated,612798
EDN1122.311{High density lipoprotein cholesterol level QTL 7}612798
EDN3108.610.93Central hypoventilation syndrome, congenital,209880
EDN3108.610.93Waardenburg syndrome, type 4B,613265
EDN3108.610.93{Hirschsprung disease, susceptibility to, 4},613712
EDNRA166.510.98Mandibulofacial dysostosis with alopecia,616367
EDNRA166.510.98{Migraine, resistance to},157300
EDNRB115.60.930.93ABCD syndrome,600501
EDNRB115.60.930.93Waardenburg syndrome, type 4A,277580
EDNRB115.60.930.93{Hirschsprung disease, susceptibility to, 2},600155
EEF1A2168.90.990.9Epileptic encephalopathy, early infantile, 33616409
EEF1A2168.90.990.9Mental retardation, autosomal dominant 38616393
EFEMP1166.610.97Doyne honeycomb degeneration of retina,126600
EFEMP2117.611Cutis laxa, autosomal recessive, type IB,614437
EFNB1147.411Craniofrontonasal dysplasia,304110
EFTUD2100.210.99Mandibulofacial dysostosis, Guion-Almeida type,610536
EGF118.410.99Hypomagnesemia 4 renal,611718
EGFR137.710.98Adenocarcinoma of lung, response to tyrosine kinase inhibitor in,211980
EGFR137.710.98Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in,211980
EGFR137.710.98?Inflammatory skin and bowel disease, neonatal, 2616069
EGFR137.710.98{Nonsmall cell lung cancer, susceptibility to},211980
EGLN142.50.790.6Erythrocytosis, familial, 3609820
EGLN142.50.790.6[Hemoglobin, high altitude adaptation],609070
EGR2111.311Charcot-Marie-Tooth disease, type 1D,607678
EGR2111.311Dejerine-Sottas disease,145900
EGR2111.311Neuropathy, congenital hypomyelinating, 1605253
EHMT1134.60.990.95Kleefstra syndrome,610253
EIF2AK3132.90.950.92Wolcott-Rallison syndrome,226980
EIF2AK4137.410.97Pulmonary venoocclusive disease 2234810
EIF2B1118.811Leukoencephalopathy with vanishing white matter,603896
EIF2B2119.211Leukoencephalopathy with vanishing white matter,603896
EIF2B2119.211Ovarioleukodystrophy,603896
EIF2B3139.811Leukoencephalopathy with vanishing white matter,603896
EIF2B4114.80.990.96Leukoencephaly with vanishing white matter,603896
EIF2B4114.80.990.96Ovarioleukodystrophy,603896
EIF2B5105.710.98Leukoencephalopathy with vanishing white matter,603896
EIF2B5105.710.98Ovarioleukodystrophy,603896
EIF4A3101.110.99Robin sequence with cleft mandible and limb abnormalities,268305
ELAC2105.410.98Combined oxidative phosphorylation deficiency 17615440
ELAC2105.410.98{Prostate cancer, hereditary, 2 susceptibility to},614731
ELANE90.80.990.96Neutropenia, cyclic,162800
ELANE90.80.990.96Neutropenia, severe congenital 1 autosomal dominant,202700
ELN91.10.990.96Cutis laxa, AD,123700
ELN91.10.990.96Supravalvar aortic stenosis,185500
ELOVL474.40.980.97Ichthyosis, spastic quadriplegia, and mental retardation,614457
ELOVL474.40.980.97Stargardt disease 3600110
ELOVL474.40.980.97?Spinocerebellar ataxia 34133190
ELOVL5102.410.99Spinocerebellar ataxia 38615957
EMC1109.410.99Cerebellar atrophy, visual impairment, and psychomotor retardation,616875
EMD128.910.99Emery-Dreifuss muscular dystrophy 1 X-linked,310300
EMG1118.311Bowen-Conradi syndrome,211180
EMP292.310.99Nephrotic syndrome, type 10615861
EMR2142.10.970.96Vibratory urticaria,125630
EMX293.910.99Schizencephaly,269160
ENAM125.211Amelogenesis imperfecta, type IB,104500
ENAM125.211Amelogenesis imperfecta, type IC,204650
ENG111.50.940.91Telangiectasia, hereditary hemorrhagic, type 1187300
ENPP1129.90.860.76Arterial calcification, generalized, of infancy, 1208000
ENPP1129.90.860.76Cole disease,615522
ENPP1129.90.860.76Hypophosphatemic rickets, autosomal recessive, 2613312
ENPP1129.90.860.76{Diabetes mellitus, non-insulin-dependent, susceptibility to},125853
ENPP1129.90.860.76{Obesity, susceptibility to},601665
ENTPD1139.210.99Spastic paraplegia 64 autosomal recessive,615683
EOGT130.910.96Adams-Oliver syndrome 4615297
EP300161.40.990.98Colorectal cancer, somatic,114500
EP300161.40.990.98Rubinstein-Taybi syndrome 2613684
EPAS1114.80.960.94Erythrocytosis, familial, 4611783
EPB41112.50.990.96Elliptocytosis-1,611804
EPB42133.810.99Spherocytosis, type 5612690
EPCAM52.90.940.75Colorectal cancer, hereditary nonpolyposis, type 8613244
EPCAM52.90.940.75Diarrhea 5 with tufting enteropathy, congenital,613217
EPG5112.90.990.96Vici syndrome,242840
EPHA2151.50.980.97Cataract 6 multiple types,116600
EPHX1108.90.980.96Diphenylhydantoin toxicity116600
EPHX1108.90.980.96Hypercholanemia, familial,607748
EPHX1108.90.980.96?Fetal hydantoin syndrome607748
EPHX1108.90.980.96{Preeclampsia, susceptibility to},189800
EPM2A98.40.830.8Epilepsy, progressive myoclonic 2A (Lafora),254780
ERBB2115.10.980.97Adenocarcinoma of lung, somatic,211980
ERBB2115.10.980.97Gastric cancer, somatic,613659
ERBB2115.10.980.97Glioblastoma, somatic,137800
ERBB2115.10.980.97Ovarian cancer, somatic,137800
ERBB3114.20.990.98Lethal congenital contractural syndrome 2607598
ERBB41310.990.98Amyotrophic lateral sclerosis 19615515
ERCC174.210.95Cerebrooculofacioskeletal syndrome 4610758
ERCC2116.211Cerebrooculofacioskeletal syndrome 2610756
ERCC2116.211Trichothiodystrophy 1 photosensitive,601675
ERCC2116.211Xeroderma pigmentosum, group D,278730
ERCC395.910.97Trichothiodystrophy 2 photosensitive,616390
ERCC395.910.97Xeroderma pigmentosum, group B,610651
ERCC4131.50.990.97Fanconi anemia, complementation group Q,615272
ERCC4131.50.990.97Xeroderma pigmentosum, group F,278760
ERCC4131.50.990.97Xeroderma pigmentosum, type F/Cockayne syndrome,278760
ERCC4131.50.990.97?XFE progeroid syndrome,610965
ERCC5124.310.99Cerebrooculofacioskeletal syndrome 3616570
ERCC5124.310.99Xeroderma pigmentosum, group G,278780
ERCC5124.310.99Xeroderma pigmentosum, group G/Cockayne syndrome,278780
ERCC6147.511Cerebrooculofacioskeletal syndrome 1214150
ERCC6147.511Cockayne syndrome, type B,133540
ERCC6147.511De Sanctis-Cacchione syndrome,278800
ERCC6147.511Premature ovarian failure 11,616946
ERCC6147.511UV-sensitive syndrome 1600630
ERCC6147.511{Lung cancer, susceptibility to},211980
ERCC6147.511{Macular degeneration, age-related, susceptibility to 5},613761
ERCC6L2118.10.990.97Bone marrow failure syndrome 2615715
ERCC878.90.980.82Cockayne syndrome, type A,216400
ERCC878.90.980.82UV-sensitive syndrome 2614621
ERF90.710.95Craniosynostosis 4600775
ERLIN1151.111Spastic Paraplegia 62615681
ERLIN2132.610.96Spastic paraplegia 18 autosomal recessive,611225
ESCO2102.30.910.85Roberts syndrome,268300
ESCO2102.30.910.85SC phocomelia syndrome,269000
ESPN36.40.650.54Deafness, autosomal recessive 36609006
ESPN36.40.650.54Deafness, neurosensory, without vestibular involvement, autosomal dominant609006
ESR1101.20.980.97Estrogen resistance,615363
ESR1101.20.980.97{Atherosclerosis, susceptibility to}615363
ESR1101.20.980.97{Breast cancer},114480
ESR1101.20.980.97{HDL response to hormone replacement, augmented}114480
ESR1101.20.980.97{Migraine, susceptibility to},157300
ESR1101.20.980.97{Myocardial infarction, susceptibility to},608446
ESRRB98.410.99Deafness, autosomal recessive 35608565
ETFA130.511Glutaric acidemia IIA,231680
ETFB97.911Glutaric acidemia IIB,231680
ETFDH93.80.990.98Glutaric acidemia IIC,231680
ETHE165.810.87Ethylmalonic encephalopathy,602473
ETV6105.811Leukemia, acute myeloid, somatic,601626
ETV6105.811Thrombocytopenia 5616216
EVC95.80.90.85Ellis-van Creveld syndrome,225500
EVC95.80.90.85Weyers acrodental dysostosis,193530
EVC295.80.960.9Ellis-van Creveld syndrome,225500
EVC295.80.960.9Weyers acrofacial dysostosis,193530
EWSR163.70.930.86Ewing sarcoma,612219
EWSR163.70.930.86Neuroepithelioma,612219
EXOSC368.10.890.83Pontocerebellar hypoplasia, type 1B,614678
EXOSC869.10.840.68Pontocerebellar hypoplasia, type 1C,616081
EXPH5178.811Epidermolysis bullosa, nonspecific, autosomal recessive,615028
EXT177.90.970.94Chondrosarcoma,215300
EXT177.90.970.94Exostoses, multiple, type 1133700
EXT216210.98Exostoses, multiple, type 2133701
EXT216210.98?Seizures, scoliosis, and macrocephaly syndrome,616682
EYA1132.810.99Anterior segment anomalies with or without cataract,113650
EYA1132.810.99Branchiootic syndrome 1602588
EYA1132.810.99Branchiootorenal syndrome 1 with or without cataracts,113650
EYA1132.810.99?Otofaciocervical syndrome,166780
EYA4135.511Cardiomyopathy, dilated, 1J,605362
EYA4135.511Deafness, autosomal dominant 10601316
EYS127.30.980.93Retinitis pigmentosa 25602772
EZH2122.60.990.97Weaver syndrome,277590
F10128.40.980.95Factor X deficiency,227600
F11136.810.99Factor XI deficiency, autosomal dominant,612416
F11136.810.99Factor XI deficiency, autosomal recessive,612416
F1298.410.99Angioedema, hereditary, type III,610618
F1298.410.99Factor XII deficiency,234000
F13A1148.110.98Factor XIIIA deficiency,613225
F13A1148.110.98{Myocardial infarction, protection against},608446
F13A1148.110.98{Venous thrombosis, protection against},188050
F13B109.20.940.84Factor XIIIB deficiency,613235
F2101.110.97Dysprothrombinemia,613679
F2101.110.97Hypoprothrombinemia,613679
F2101.110.97Thrombophilia due to thrombin defect,188050
F2101.110.97{Pregnancy loss, recurrent, susceptibility to, 2},614390
F2101.110.97{Stroke, ischemic, susceptibility to},601367
F5162.10.980.97Factor V deficiency,227400
F5162.10.980.97Thrombophilia due to activated protein C resistance,188055
F5162.10.980.97{Budd-Chiari syndrome},600880
F5162.10.980.97{Pregnancy loss, recurrent, susceptibility to, 1},614389
F5162.10.980.97{Stroke, ischemic, susceptibility to},601367
F5162.10.980.97{Thrombophilia, susceptibility to, due to factor V Leiden},188055
F7135.411Factor VII deficiency,227500
F7135.411{Myocardial infarction, decreased susceptibility to},608446
F81510.990.99Hemophilia A,306700
F9170.710.95Hemophilia B,306900
F9170.710.95Thrombophilia, X-linked, due to factor IX defect,300807
F9170.710.95{Deep venous thrombosis, protection against},300807
F9170.710.95{Warfarin sensitivity},122700
FA2H81.60.940.79Spastic paraplegia 35 autosomal recessive,612319
FADD112.510.98Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations,612319
FADD112.510.98Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations,613759
FAH133.710.99Tyrosinemia, type I,276700
FAM105B125.20.910.87Autoinflammation,panniculitis, and dermatosis syndrome,617099
FAM111A249.911Gracile bone dysplasia,602361
FAM111A249.911Kenny-Caffey syndrome, type 2127000
FAM111B134.310.99Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis,615704
FAM126A1250.950.95Leukodystrophy, hypomyelinating, 5610532
FAM134B98.50.950.87Neuropathy, hereditary sensory and autonomic, type IIB,613115
FAM161A97.90.980.92Retinitis pigmentosa 28606068
FAM20A96.90.990.89Amelogenesis imperfecta, type IG (enamel-renal syndrome),204690
FAM20C82.410.93Raine syndrome,259775
FAM58A88.70.80.78STAR syndrome,300707
FAM83H70.90.960.87Amelogenesis imperfecta, type III,130900
FAN1131.511Interstitial nephritis, karyomegalic,614817
FANCA103.410.98Fanconi anemia, complementation group A,227650
FANCB87.20.990.93Fanconi anemia, complementation group B,300514
FANCC102.911Fanconi anemia, complementation group C,227645
FANCD2116.80.970.94Fanconi anemia, complementation group D2,227646
FANCE99.60.840.84Fanconi anemia, complementation group E,600901
FANCF11311Fanconi anemia, complementation group F,603467
FANCG117.310.99Fanconi anemia, complementation group G,614082
FANCI154.70.990.96Fanconi anemia, complementation group I,609053
FANCL67.210.96Fanconi anemia, complementation group L,614083
FAR178.20.940.9Peroxisomal fatty acyl-CoA reductase 1 disorder,616154
FARS2183.511Combined oxidative phosphorylation deficiency 14614946
FARS2183.511?Spastic paraplegia 77 autosomal recessive,617046
FAS23610.98Autoimmune lymphoproliferative syndrome, type IA,601859
FAS23610.98Squamous cell carcinoma, burn scar-related, somatic601859
FAS23610.98{Autoimmune lymphoproliferative syndrome},601859
FASLG78.110.96Autoimmune lymphoproliferative syndrome, type IB,601859
FASLG78.110.96{Lung cancer, susceptibility to},211980
FAT4186.710.99Hennekam lymphangiectasia-lymphedema syndrome 2616006
FAT4186.710.99Van Maldergem syndrome 2615546
FBLN5102.30.910.91Cutis laxa, autosomal dominant 2614434
FBLN5102.30.910.91Cutis laxa, autosomal recessive, type IA,219100
FBLN5102.30.910.91Macular degeneration, age-related, 3608895
FBLN5102.30.910.91Neuropathy, hereditary, with or without age-related macular degeneration,608895
FBN1141.210.98Acromicric dysplasia,102370
FBN1141.210.98Aortic aneurysm, ascending, and dissection102370
FBN1141.210.98Ectopia lentis, familial,129600
FBN1141.210.98Geleophysic dysplasia 2614185
FBN1141.210.98Marfan lipodystrophy syndrome,616914
FBN1141.210.98Marfan syndrome,154700
FBN1141.210.98MASS syndrome,604308
FBN1141.210.98Stiff skin syndrome,184900
FBN1141.210.98Weill-Marchesani syndrome 2 dominant,608328
FBN2145.510.99Contractural arachnodactyly, congenital,121050
FBN2145.510.99Macular degeneration, early-onset,616118
FBP1100.711Fructose-1,6-bisphosphatase deficiency,229700
FBXL4180.411Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type),615471
FBXO38142.40.990.98Neuronopathy, distal hereditary motor, type IID,615575
FBXO7192.910.98Parkinson disease 15 autosomal recessive,260300
FCGR3A156.810.98Immunodeficiency 20615707
FCGR3B1630.990.97Neutropenia, alloimmune neonatal615707
FCN3113.110.98Immunodeficiency due to ficolin 3 deficiency,613860
FDPS60.90.960.94Porokeratosis 9 multiple types,616631
FECH114.911Protoporphyria, erythropoietic, autosomal recessive,177000
FERMT187.60.970.94Kindler syndrome,173650
FERMT3107.211Leukocyte adhesion deficiency,type III,612840
FEZF1125.110.95Hypogonadotropic hypogonadism 22 with or without anosmia,616030
FGA142.60.980.94Afibrinogenemia, congenital,202400
FGA142.60.980.94Amyloidosis, familial visceral,105200
FGA142.60.980.94Dysfibrinogenemia, congenital,616004
FGA142.60.980.94Hypodysfibrinogenemia, congenital,616004
FGB16810.98Afibrinogenemia, congenital,202400
FGB16810.98Dysfibrinogenemia, congenital,616004
FGB16810.98Hypofibrinogenemia, congenital,202400
FGD1102.80.970.92Aarskog-Scott syndrome,305400
FGD1102.80.970.92Mental retardation, X-linked syndromic 16305400
FGD492.40.970.92Charcot-Marie-Tooth disease, type 4H,609311
FGF10122.611Aplasia of lacrimal and salivary glands,180920
FGF10122.611LADD syndrome,149730
FGF14168.910.98Spinocerebellar ataxia 27609307
FGF16144.610.99Metacarpal 4-maig fusion,309630
FGF17129.711Hypogonadotropic hypogonadism 20 with or without anosmia,615270
FGF2395.30.980.95Hypophosphatemic rickets, autosomal dominant,193100
FGF2395.30.980.95Osteomalacia, tumor-induced193100
FGF2395.30.980.95Tumoral calcinosis, hyperphosphatemic, familial,211900
FGF368.50.970.92Deafness, congenital with inner ear agenesis, microtia, and microdontia,610706
FGF587.210.99Trichomegaly,190330
FGF8121.50.820.75Hypogonadotropic hypogonadism 6 with or without anosmia,612702
FGFR1127.60.970.96Encephalocraniocutaneous lipomatosis,613001
FGFR1127.60.970.96Hartsfield syndrome,615465
FGFR1127.60.970.96Hypogonadotropic hypogonadism 2 with or without anosmia,147950
FGFR1127.60.970.96Jackson-Weiss syndrome,123150
FGFR1127.60.970.96Osteoglophonic dysplasia,166250
FGFR1127.60.970.96Pfeiffer syndrome,101600
FGFR1127.60.970.96Trigonocephaly 1190440
FGFR2121.80.960.95Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,207410
FGFR2121.80.960.95Apert syndrome,101200
FGFR2121.80.960.95Beare-Stevenson cutis gyrata syndrome,123790
FGFR2121.80.960.95Bent bone dysplasia syndrome,614592
FGFR2121.80.960.95Craniofacial-skeletal-dermatologic dysplasia,101600
FGFR2121.80.960.95Craniosynostosis, nonspecific101600
FGFR2121.80.960.95Crouzon syndrome,123500
FGFR2121.80.960.95Gastric cancer, somatic,613659
FGFR2121.80.960.95Jackson-Weiss syndrome,123150
FGFR2121.80.960.95LADD syndrome,149730
FGFR2121.80.960.95Pfeiffer syndrome,101600
FGFR2121.80.960.95Saethre-Chotzen syndrome,101400
FGFR2121.80.960.95Scaphocephaly and Axenfeld-Rieger anomaly101400
FGFR2121.80.960.95Scaphocephaly, maxillary retrusion, and mental retardation,609579
FGFR398.910.99Achondroplasia,100800
FGFR398.910.99Bladder cancer, somatic,109800
FGFR398.910.99CATSHL syndrome,610474
FGFR398.910.99Cervical cancer, somatic,603956
FGFR398.910.99Colorectal cancer, somatic,114500
FGFR398.910.99Crouzon syndrome with acanthosis nigricans,612247
FGFR398.910.99Hypochondroplasia,146000
FGFR398.910.99LADD syndrome,149730
FGFR398.910.99Muenke syndrome,602849
FGFR398.910.99Nevus, epidermal, somatic,162900
FGFR398.910.99SADDAN,616482
FGFR398.910.99Spermatocytic seminoma, somatic,273300
FGFR398.910.99Thanatophoric dysplasia, type I,187600
FGFR398.910.99Thanatophoric dysplasia, type II,187601
FGG131.40.980.97Afibrinogenemia, congenital,202400
FGG131.40.980.97Dysfibrinogenemia, congenital,616004
FGG131.40.980.97Hypodysfibrinogenemia,616004
FGG131.40.980.97Hypofibrinogenemia, congenital,202400
FH139.20.890.86Fumarase deficiency,606812
FH139.20.890.86Leiomyomatosis and renal cell cancer,150800
FHL198.80.980.93Emery-Dreifuss muscular dystrophy 6 X-linked,300696
FHL198.80.980.93Hemophagocytic lymphohistiocytosis, familial, 1300696
FHL198.80.980.93Myopathy, X-linked, with postural muscle atrophy,300696
FHL198.80.980.93Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset,300717
FHL198.80.980.93Reducing body myopathy, X-linked 1b, with late childhood or adult onset,300718
FHL198.80.980.93Scapuloperoneal myopathy, X-linked dominant,300695
FIG4147.410.96Amyotrophic lateral sclerosis 11612577
FIG4147.410.96Charcot-Marie-Tooth disease, type 4J,611228
FIG4147.410.96Yunis-Varon syndrome,216340
FIG4147.410.96?Polymicrogyria, bilateral temporooccipital,612691
FIGLA91.80.90.85Premature ovarian failure 6612310
FKBP10137.90.970.93Bruck syndrome 1259450
FKBP10137.90.970.93Osteogenesis imperfecta, type XI,610968
FKBP1475.60.990.93Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss,614557
FKRP74.310.99Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5613153
FKRP74.310.99Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5613153
FKRP74.310.99Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5606612
FKRP74.310.99Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5607155
FKTN128.40.990.93Cardiomyopathy, dilated, 1X,611615
FKTN128.40.990.93Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4253800
FKTN128.40.990.93Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4613152
FKTN128.40.990.93Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4611588
FLAD1141.711Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency,255100
FLCN138.810.99Birt-Hogg-Dube syndrome,135150
FLCN138.810.99Colorectal cancer, somatic,114500
FLCN138.810.99Pneumothorax, primary spontaneous,173600
FLCN138.810.99Renal carcinoma, chromophobe, somatic,144700
FLG170.810.99Ichthyosis vulgaris,146700
FLG170.810.99{Dermatitis, atopic, susceptibility to, 2},605803
FLNA163.811Cardiac valvular dysplasia, X-linked,314400
FLNA163.811Congenital short bowel syndrome,300048
FLNA163.811FG syndrome 2300321
FLNA163.811Frontometaphyseal dysplasia,305620
FLNA163.811Heterotopia, periventricular,300049
FLNA163.811Heterotopia, periventricular, ED variant,300537
FLNA163.811Intestinal pseudoobstruction, neuronal,300048
FLNA163.811Melnick-Needles syndrome,309350
FLNA163.811Otopalatodigital syndrome, type I,311300
FLNA163.811Otopalatodigital syndrome, type II,304120
FLNA163.811Terminal osseous dysplasia,300244
FLNB129.50.990.99Atelosteogenesis, type I,108720
FLNB129.50.990.99Atelosteogenesis, type III,108721
FLNB129.50.990.99Boomerang dysplasia,112310
FLNB129.50.990.99Larsen syndrome,150250
FLNB129.50.990.99Spondylocarpotarsal synostosis syndrome,272460
FLNC135.410.99Cardiomyopathy, familial hypertrophic, 26272460
FLNC135.410.99Cardiomyopathy, familial restrictive 5617047
FLNC135.410.99Myopathy, distal, 4614065
FLNC135.410.99Myopathy, myofibrillar, 5609524
FLRT3188.911Hypogonadotropic hypogonadism 21 with anosmia,615271
FLT31210.980.97Leukemia, acute lymphoblastic, somatic,613065
FLT31210.980.97Leukemia, acute myeloid, reduced survival in, somatic,601626
FLT31210.980.97Leukemia, acute myeloid, somatic,601626
FLT4143.60.990.98Hemangioma, capillary infantile, somatic,602089
FLT4143.60.990.98Lymphedema, hereditary, IA,153100
FLVCR1126.50.990.97Ataxia, posterior column, with retinitis pigmentosa,609033
FLVCR2152.611Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome,225790
FMN276.90.80.72Mental retardation, autosomal recessive 47616193
FMO3138.10.990.97Trimethylaminuria,602079
FMR194.50.960.87Fragile X syndrome,300624
FMR194.50.960.87Fragile X tremor/ataxia syndrome,300623
FMR194.50.960.87Premature ovarian failure 1311360
FN1126.810.98Glomerulopathy with fibronectin deposits 2601894
FN1126.810.98Plasma fibronectin deficiency,614101
FOLR1107.111Neurodegeneration due to cerebral folate transport deficiency,613068
FOXC132.10.970.83Axenfeld-Rieger syndrome, type 3602482
FOXC132.10.970.83Iridogoniodysgenesis, type 1601631
FOXC132.10.970.83Iris hypoplasia and glaucoma,601631
FOXC132.10.970.83Rieger or Axenfeld anomalies,602482
FOXC242.20.990.77Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus,153400
FOXC242.20.990.77Lymphedema-distichiasis syndrome,153400
FOXE124.20.70.54Bamforth-Lazarus syndrome,241850
FOXE124.20.70.54{Thyroid cancer, nonmedullary, 4},616534
FOXE316.10.570.38Anterior segment mesenchymal dysgenesis,107250
FOXE316.10.570.38Aphakia, congenital primary,610256
FOXF161.80.960.87Alveolar capillary dysplasia with misalignment of pulmonary veins,265380
FOXG193.60.790.76Rett syndrome, congenital variant,613454
FOXI1115.211Enlarged vestibular aqueduct,600791
FOXL225.30.780.55Blepharophimosis, epicanthus inversus, and ptosis, type 1110100
FOXL225.30.780.55Blepharophimosis, epicanthus inversus, and ptosis, type 2110100
FOXL225.30.780.55Premature ovarian failure 3608996
FOXN188.20.990.96T-cell immunodeficiency, congenital alopecia, and nail dystrophy,601705
FOXO1121.10.940.91Rhabdomyosarcoma,alveolar,268220
FOXP1116.710.99Mental retardation with language impairment and with or without autistic features,613670
FOXP2134.90.950.94Speech-language disorder-1,602081
FOXP313010.9Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked,304790
FOXP313010.9{Diabetes mellitus, type I, susceptibility to},222100
FOXRED1122.610.99Leigh syndrome due to mitochondrial complex I deficiency,256000
FOXRED1122.610.99Mitochondrial complex I deficiency,252010
FRAS1124.70.990.99Fraser syndrome,219000
FREM11240.990.97Bifid nose with or without anorectal and renal anomalies,608980
FREM11240.990.97Manitoba oculotrichoanal syndrome,248450
FREM11240.990.97Trigonocephaly 2614485
FREM2158.30.990.99Fraser syndrome,219000
FRMD7151.911Nystagmus 1 congenital, X-linked,310700
FRMD7151.911Nystagmus, infantile periodic alternating, X-linked,310700
FRRS1L106.30.620.62Epileptic encephalopathy, early infantile, 37616981
FSCN2130.911Retinitis pigmentosa 30607921
FSHB11811Hypogonadotropic hypogonadism 24 without anosmia,229070
FSHR1080.990.97Ovarian dysgenesis 1233300
FSHR1080.990.97Ovarian hyperstimulation syndrome,608115
FSHR1080.990.97Ovarian response to FSH stimulation,276400
FTCD75.80.920.85Glutamate formiminotransferase deficiency,229100
FTL101.310.97Hyperferritinemia-cataract syndrome,600886
FTL101.310.97L-ferritin deficiency, dominant and recessive,615604
FTL101.310.97Neurodegeneration with brain iron accumulation 3606159
FTO116.70.990.97Growth retardation, developmental delay, facial dysmorphism,612938
FTO116.70.990.97{Obesity, susceptibility to, BMIQ14},612460
FTSJ1149.310.98Mental retardation, X-linked 9309549
FUCA1121.210.99Fucosidosis,230000
FUS117.210.93Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia,608030
FUS117.210.93Tremor, hereditary essential, 4614782
FUT6151.411Fucosyltransferase 6 deficiency,613852
FUZ94.711Neural tube defects,182940
FXN59.80.750.71Friedreich ataxia with retained reflexes,229300
FXN59.80.750.71Friedreich ataxia,229300
FXYD280.611Hypomagnesemia 2 renal,154020
FYCO1106.711Cataract 18 autosomal recessive,610019
FZD4177.810.98Exudative vitreoretinopathy 1133780
FZD4177.810.98Retinopathy of prematurity,133780
FZD6179.411Nail disorder, nonsyndromic congenital, 10 (claw-shaped nails),614157
G6PC166.911Glycogen storage disease Ia,232200
G6PC3115.411Dursun syndrome,612541
G6PC3115.411Neutropenia, severe congenital 4 autosomal recessive,612541
G6PD13510.99Favism,134700
G6PD13510.99Hemolytic anemia due to G6PD deficiency,300908
G6PD13510.99{Resistance to malaria due to G6PD deficiency},611162
GAA106.310.99Glycogen storage disease II,232300
GABRA1160.511Epileptic encephalopathy, early infantile, 19615744
GABRA1160.511{Epilepsy, childhood absence, susceptibility to, 4},611136
GABRA1160.511{Epilepsy, juvenile myoclonic, susceptibility to, 5},611136
GABRG2134.80.920.92Epilepsy, generalized, with febrile seizures plus, type 3611277
GABRG2134.80.920.92Febrile seizures, familial, 8611277
GABRG2134.80.920.92{Epilepsy, childhood absence, susceptibility to, 2},607681
GALC94.20.980.91Krabbe disease,245200
GALE125.611Galactose epimerase deficiency,230350
GALK195.70.980.94Galactokinase deficiency with cataracts,230200
GALNS84.510.93Mucopolysaccharidosis IVA,253000
GALNT3118.20.970.91Tumoral calcinosis, hyperphosphatemic, familial,211900
GALT137.111Galactosemia,230400
GAMT91.20.980.88Cerebral creatine deficiency syndrome 2612736
GAN177.110.97Giant axonal neuropathy-1,256850
GANAB103.50.990.97Polycystic kidney disease 3600666
GARS120.60.990.96Charcot-Marie-Tooth disease, type 2D,601472
GARS120.60.990.96Neuropathy, distal hereditary motor, type VA,600794
GAS8137.310.99Ciliary dyskinesia, primary, 33616726
GATA192.210.99Anemia, X-linked, with/without neutropenia and/or platelet abnormalities,300835
GATA192.210.99Leukemia, megakaryoblastic, with or without Down syndrome, somatic,190685
GATA192.210.99Thrombocytopenia with beta-thalassemia, X-linked,314050
GATA192.210.99Thrombocytopenia, X-linked, with or without dyserythropoietic anemia,300367
GATA2106.110.98Emberger syndrome,614038
GATA2106.110.98Immunodeficiency 21614172
GATA2106.110.98{Leukemia, acute myeloid, susceptibility to},601626
GATA2106.110.98{Myelodysplastic syndrome, susceptibility to},614286
GATA3145.110.99Hypoparathyroidism, sensorineural deafness, and renal dysplasia,146255
GATA465.10.570.53Atrial septal defect 2607941
GATA465.10.570.53Atrioventricular septal defect 4614430
GATA465.10.570.53Tetralogy of Fallot,187500
GATA465.10.570.53Ventricular septal defect 1614429
GATA465.10.570.53?Testicular anomalies with or without congenital heart disease,615542
GATA647.20.770.63Atrial septal defect 9614475
GATA647.20.770.63Atrioventricular septal defect 5614474
GATA647.20.770.63Pancreatic agenesis and congenital heart defects,600001
GATA647.20.770.63Persistent truncus arteriosus,217095
GATA647.20.770.63Tetralogy of Fallot,187500
GATAD2B110.110.99Mental retardation, autosomal dominant 18615074
GATM140.211Cerebral creatine deficiency syndrome 3612718
GBA193.211Gaucher disease, perinatal lethal,608013
GBA193.211Gaucher disease, type I,230800
GBA193.211Gaucher disease, type II,230900
GBA193.211Gaucher disease, type III,231000
GBA193.211Gaucher disease, type IIIC,231005
GBA193.211{Lewy body dementia, susceptibility to},127750
GBA193.211{Parkinson disease, late-onset, susceptibility to},168600
GBA2145.80.990.98Spastic paraplegia 46 autosomal recessive,614409
GBE11470.990.93Glycogen storage disease IV,232500
GBE11470.990.93Polyglucosan body disease, adult form,263570
GCDH118.50.930.91Glutaricaciduria, type I,231670
GCH166.90.960.79Dystonia, DOPA-responsive, with or without hyperphenylalaninemia,128230
GCH166.90.960.79Hyperphenylalaninemia, BH4-deficient, B,233910
GCK12611Diabetes mellitus, noninsulin-dependent, late onset,125853
GCK12611Diabetes mellitus, permanent neonatal,606176
GCK12611Hyperinsulinemic hypoglycemia, familial, 3602485
GCK12611MODY, type II,125851
GCLC121.10.990.98Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency,230450
GCLC121.10.990.98{Myocardial infarction, susceptibility to},608446
GCM212711Hypoparathyroidism, familial isolated,146200
GCNT2157.911Adult i phenotype without cataract,110800
GCNT2157.911Cataract 13 with adult i phenotype,116700
GCNT2157.911[Blood group, Ii],110800
GCSH290.60.37Glycine encephalopathy,605899
GDAP1153.410.99Charcot-Marie-Tooth disease, axonal, type 2K,607831
GDAP1153.410.99Charcot-Marie-Tooth disease, axonal, with vocal cord paresis,607706
GDAP1153.410.99Charcot-Marie-Tooth disease, recessive intermediate, A,608340
GDAP1153.410.99Charcot-Marie-Tooth disease, type 4A,214400
GDF127.70.690.62Double-outlet right ventricle,217095
GDF127.70.690.62Right atrial isomerism,208530
GDF127.70.690.62Tetralogy of Fallot,187500
GDF127.70.690.62Transposition of great arteries, dextro-looped 3613854
GDF2128.511Telangiectasia, hereditary hemorrhagic, type 5615506
GDF3122.611Klippel-Feil syndrome 3 autosomal dominant,613702
GDF3122.611Microphthalmia with coloboma 6613703
GDF3122.611Microphthalmia, isolated 7613704
GDF5122.911Brachydactyly, type A1, C,615072
GDF5122.911Brachydactyly, type A2,112600
GDF5122.911Brachydactyly, type C,113100
GDF5122.911Chondrodysplasia, Grebe type,200700
GDF5122.911Du Pan syndrome,228900
GDF5122.911Multiple synostoses syndrome 2610017
GDF5122.911Symphalangism, proximal, 1B,615298
GDF5122.911?Acromesomelic dysplasia, Hunter-Thompson type,201250
GDF5122.911{Osteoarthritis-5},612400
GDF670.30.930.8Klippel-Feil syndrome 1 autosomal dominant,118100
GDF670.30.930.8Leber congenital amaurosis 17615360
GDF670.30.930.8Microphthalmia with coloboma 6 digenic,613703
GDF670.30.930.8Microphthalmia, isolated 4613094
GDI119411Mental retardation, X-linked 41300849
GDNF155.810.95Central hypoventilation syndrome,209880
GDNF155.810.95{Hirschsprung disease, susceptibility to, 3},613711
GDNF155.810.95{Pheochromocytoma, modifier of},171300
GFAP87.911Alexander disease,203450
GFER75.10.990.86Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,203450
GFER75.10.990.86Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076
GFI181.610.92Neutropenia, nonimmune chronic idiopathic, of adults,607847
GFI181.610.92Neutropenia, severe congenital 2 autosomal dominant,613107
GFI1B132.811Bleeding disorder, platelet-type, 17187900
GFM185.80.980.95Combined oxidative phosphorylation deficiency 1609060
GFPT11260.990.96Myasthenia, congenital, 12 with tubular aggregates,610542
GGCX89.80.990.96Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency,610842
GGCX89.80.990.96Vitamin K-dependent clotting factors, combined deficiency of, 1277450
GH1167.611Growth hormone deficiency, isolated, type IA,262400
GH1167.611Growth hormone deficiency, isolated, type IB,612781
GH1167.611Growth hormone deficiency, isolated, type II,173100
GH1167.611Kowarski syndrome,262650
GHR185.311Growth hormone insensitivity, partial,604271
GHR185.311Increased responsiveness to growth hormone604271
GHR185.311Laron dwarfism,262500
GHR185.311{Hypercholesterolemia, familial, modifier of},143890
GHRHR110.811Growth hormone deficiency, isolated, type IB,612781
GHSR144.60.990.97Growth hormone deficiency, isolated partial,615925
GIF135.411Intrinsic factor deficiency,261000
GIPC3100.40.90.82Deafness, autosomal recessive 15601869
GJA1182.811Atrioventricular septal defect 3600309
GJA1182.811Craniometaphyseal dysplasia, autosomal recessive,218400
GJA1182.811Erythrokeratodermia variabilis et progressiva,133200
GJA1182.811Hypoplastic left heart syndrome 1241550
GJA1182.811Oculodentodigital dysplasia,164200
GJA1182.811Oculodentodigital dysplasia, autosomal recessive,257850
GJA1182.811Palmoplantar keratoderma with congenital alopecia,104100
GJA1182.811Syndactyly, type III,186100
GJA3120.910.96Cataract 14 multiple types,601885
GJA5224.411Atrial fibrillation, familial, 11614049
GJA5224.411Atrial standstill, digenic (GJA5/SCN5A),108770
GJA811411Cataract 1 multiple types,116200
GJB1222.411Charcot-Marie-Tooth neuropathy, X-linked dominant, 1302800
GJB2190.311Bart-Pumphrey syndrome,149200
GJB2190.311Deafness, autosomal dominant 3A,601544
GJB2190.311Deafness, autosomal recessive 1A,220290
GJB2190.311Hystrix-like ichthyosis with deafness,602540
GJB2190.311Keratitis-ichthyosis-deafness syndrome,148210
GJB2190.311Keratoderma, palmoplantar, with deafness,148350
GJB2190.311Vohwinkel syndrome,124500
GJB3283.311Deafness, autosomal dominant 2B,612644
GJB3283.311Deafness, autosomal dominant, with peripheral neuropathy612644
GJB3283.311Deafness, autosomal recessive612644
GJB3283.311Deafness, digenic, GJB2/GJB3,220290
GJB3283.311Erythrokeratodermia variabilis et progressiva,133200
GJB4330.811Erythrokeratodermia variabilis with erythema gyratum repens,133200
GJB6193.111Deafness, autosomal dominant 3B,612643
GJB6193.111Deafness, autosomal recessive 1B,612645
GJB6193.111Deafness, digenic GJB2/GJB6,220290
GJB6193.111Ectodermal dysplasia 2 Clouston type,129500
GJC238.30.840.57Leukodystrophy, hypomyelinating, 2608804
GJC238.30.840.57Lymphedema, hereditary, IC,613480
GJC238.30.840.57Spastic paraplegia 44 autosomal recessive,613206
GK55.60.830.67Glycerol kinase deficiency,307030
GLA89.110.99Fabry disease,301500
GLA89.110.99Fabry disease, cardiac variant,301500
GLB172.30.990.95GM1-gangliosidosis, type I,230500
GLB172.30.990.95GM1-gangliosidosis, type II,230600
GLB172.30.990.95GM1-gangliosidosis, type III,230650
GLB172.30.990.95Mucopolysaccharidosis type IVB (Morquio),253010
GLDC690.910.81Glycine encephalopathy,605899
GLE1103.510.97Arthrogryposis, lethal, with anterior horn cell disease,611890
GLE1103.510.97Lethal congenital contracture syndrome 1253310
GLI2102.90.980.96Culler-Jones syndrome,615849
GLI2102.90.980.96Holoprosencephaly-9,610829
GLI3136.710.99Greig cephalopolysyndactyly syndrome,175700
GLI3136.710.99Pallister-Hall syndrome,146510
GLI3136.710.99Polydactyly, postaxial, types A1 and B,174200
GLI3136.710.99Polydactyly, preaxial, type IV,174700
GLI3136.710.99{Hypothalamic hamartomas, somatic},241800
GLIS29210.94Nephronophthisis 7611498
GLIS3124.310.99Diabetes mellitus, neonatal, with congenital hypothyroidism,610199
GLMN67.10.990.85Glomuvenous malformations,138000
GLRA1105.111Hyperekplexia, hereditary 1 autosomal dominant or recessive,149400
GLRB88.60.970.89Hyperekplexia 2 autosomal recessive,614619
GLRX579.20.870.81Anemia, sideroblastic, 3 pyridoxine-refractory,616860
GLRX579.20.870.81Spasticity, childhood-onset, with hyperglycinemia,616859
GLUD165.20.890.8Hyperinsulinism-hyperammonemia syndrome,606762
GLUL84.20.990.95Glutamine deficiency, congenital,610015
GLYCTK18611D-glyceric aciduria,220120
GM2A116.811GM2-gangliosidosis, AB variant,272750
GMNN93.50.930.79Meier-Gorlin syndrome 6616835
GMPPA125.411Alacrima, achalasia, and mental retardation syndrome,615510
GMPPB207.711Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14615350
GMPPB207.711Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14615351
GMPPB207.711Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14615352
GNA11136.910.99Hypocalcemia, autosomal dominant 2615361
GNA11136.910.99Hypocalciuric hypercalcemia, type II,145981
GNAI2127.811Pituitary ACTH-secreting adenoma145981
GNAI2127.811Ventricular tachycardia, idiopathic,192605
GNAI399.110.95Auriculocondylar syndrome 1602483
GNAL118.90.990.91Dystonia 25615073
GNAO1167.211Epileptic encephalopathy, early infantile, 17615473
GNAQ75.90.890.72Capillary malformations, congenital, 1 somatic, mosaic,163000
GNAQ75.90.890.72Sturge-Weber syndrome, somatic, mosaic,185300
GNAS102.20.970.95Acromegaly, somatic,102200
GNAS102.20.970.95ACTH-independent macronodular adrenal hyperplasia,219080
GNAS102.20.970.95McCune-Albright syndrome, somatic, mosaic174800
GNAS102.20.970.95Osseous heteroplasia, progressive,166350
GNAS102.20.970.95Pseudohypoparathyroidism Ia,103580
GNAS102.20.970.95Pseudohypoparathyroidism Ib,603233
GNAS102.20.970.95Pseudohypoparathyroidism Ic,612462
GNAS102.20.970.95Pseudopseudohypoparathyroidism,612463
GNAS102.20.970.95GNAS-AS1 NC NC NC Pseudohypoparathyroidism, type IB,603233
GNAT1145.811Night blindness, congenital stationary, autosomal dominant 3610444
GNAT1145.811?Night blindness, congenital stationary, type 1G,616389
GNAT2130.211Achromatopsia-4,613856
GNB1162.411Leukemia,acute lymphoblastic,somatic,613065
GNB1162.411Mental retardation, autosomal dominant 42616973
GNB3173.211Night blindness, congenital stationary, type 1H,617024
GNB3173.211{Hypertension, essential, susceptibility to},145500
GNB4133.711Charcot-Marie-Tooth disease, dominant intermediate F,615185
GNE136.110.99Nonaka myopathy,605820
GNE136.110.99Sialuria,269921
GNMT143.40.990.96Glycine N-methyltransferase deficiency,606664
GNPAT129.10.990.95Rhizomelic chondrodysplasia punctata, type 2222765
GNPTAB150.50.970.97Mucolipidosis II alpha/beta,252500
GNPTAB150.50.970.97Mucolipidosis III alpha/beta,252600
GNPTG131.60.930.84Mucolipidosis III gamma,252605
GNRHR182.511Hypogonadotropic hypogonadism 7 without anosmia,146110
GNS950.970.93Mucopolysaccharidosis type IIID,252940
GORAB151.710.99Geroderma osteodysplasticum,231070
GOSR2113.60.970.96Epilepsy, progressive myoclonic 6614018
GOT1110.110.97Aspartate aminotransferase, serum level of, QTL1,614419
GP1BA135.40.970.94Bernard-Soulier syndrome, type A1 (recessive),231200
GP1BA135.40.970.94Bernard-Soulier syndrome, type A2 (dominant),153670
GP1BA135.40.970.94von Willebrand disease, platelet-type,177820
GP1BA135.40.970.94{Nonarteritic anterior ischemic optic neuropathy, susceptibility to},258660
GP1BB30.60.690.61Bernard-Soulier syndrome, type B,231200
GP1BB30.60.690.61Giant platelet disorder, isolated,231200
GP6110.211Bleeding disorder, platelet-type, 11614201
GP960.20.990.85Bernard-Soulier syndrome, type C,231200
GPC3119.510.98Simpson-Golabi-Behmel syndrome, type 1312870
GPC3119.510.98Wilms tumor, somatic,194070
GPC6129.811Omodysplasia 1258315
GPD188.80.990.92Hypertriglyceridemia, transient infantile,614480
GPD1L13210.99Brugada syndrome 2611777
GPHN152.50.980.96Molybdenum cofactor deficiency C,615501
GPI126.711Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency,613470
GPIHBP182.610.99Hyperlipoproteinemia, type 1D,615947
GPR101152.211Pituitary adenoma, growth hormone-secreting 2300943
GPR126142.80.990.98Lethal congenital contracture syndrome 9616503
GPR14375.70.910.87Nystagmus 6 congenital, X-linked,300814
GPR14375.70.910.87Ocular albinism, type I, Nettleship-Falls type,300500
GPR17911210.99Night blindness, congenital stationary (complete), 1E, autosomal recessive,614565
GPR56141.311Polymicrogyria, bilateral frontoparietal,606854
GPR56141.311Polymicrogyria, bilateral perisylvian,615752
GPR98129.70.990.95Usher syndrome, type 2C,605472
GPR98129.70.990.95Usher syndrome, type 2C, GPR98/PDZD7 digenic,605472
GPR98129.70.990.95?Febrile seizures, familial, 4604352
GPSM299.30.980.92Chudley-McCullough syndrome,604213
GPX4165.80.850.85Spondylometaphyseal dysplasia, Sedaghatian type,250220
GRHL2120.811Deafness, autosomal dominant 28608641
GRHL2120.811Ectodermal dysplasia/short stature syndrome,616029
GRHL3131.210.99Van der Woude syndrome 2606713
GRHPR96.10.830.8Hyperoxaluria, primary, type II,260000
GRIA3115.210.98Mental retardation, X-linked 94300699
GRID2158.711Spinocerebellar ataxia, autosomal recessive 18616204
GRIK2127.90.960.94Mental retardation, autosomal recessive, 6611092
GRIN1136.710.99Mental retardation, autosomal dominant 8614254
GRIN2A138.310.99Epilepsy, focal, with speech disorder and with or without mental retardation,245570
GRIN2B162.510.99Epileptic encephalopathy, early infantile, 27616139
GRIN2B162.510.99Mental retardation, autosomal dominant 6613970
GRIP1123.511Fraser syndrome,219000
GRK1108.410.98Oguchi disease-2,613411
GRM1163.410.99Spinocerebellar ataxia, autosomal recessive 13614831
GRM6130.90.880.84Night blindness, congenital stationary (complete), 1B, autosomal recessive,257270
GRN165.411Aphasia, primary progressive,607485
GRN165.411Ceroid lipofuscinosis, neuronal, 11614706
GRN165.411Frontotemporal lobar degeneration with ubiquitin-positive inclusions,607485
GRXCR1173.311Deafness, autosomal recessive 25613285
GSC88.50.990.77Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities,602471
GSN104.70.990.92Amyloidosis, Finnish type,105120
GSS88.910.99Glutathione synthetase deficiency,266130
GSS88.910.99Hemolytic anemia due to glutathione synthetase deficiency,231900
GTF2E275.10.990.87Trichothiodystrophy 6,nonphotosensitive,616943
GTF2H5132.310.97Trichothiodystrophy 3 photosensitive,616395
GTPBP398.910.99Combined oxidative phosphorylation deficiency 23616198
GUCA1A128.211Cone dystrophy-3,602093
GUCA1A128.211Cone-rod dystrophy 14602093
GUCA1B132.711Retinitis pigmentosa 48613827
GUCY1A3151.210.97Moyamoya 6 with achalasia,615750
GUCY2C127.510.99Diarrhea 6614616
GUCY2C127.510.99Meconium ileus,614665
GUCY2D80.30.960.9Cone-rod dystrophy 6601777
GUCY2D80.30.960.9Leber congenital amaurosis 1204000
GUSB96.60.840.81Mucopolysaccharidosis VII,253220
GYG1112.910.97Polyglucosan body myopathy 2616199
GYG1112.910.97?Glycogen storage disease XV,613507
GYS196.410.98Glycogen storage disease 0 muscle,611556
GYS2147.210.95Glycogen storage disease 0 liver,240600
GYS2147.210.95H19 NC NC NC Beckwith-Wiedemann syndrome,130650
GYS2147.210.95Silver-Russell syndrome,180860
GYS2147.210.95Wilms tumor 2194071
H6PD136.20.990.98Cortisone reductase deficiency 1604931
HACE1123.60.980.92Spastic paraplegia and psychomotor retardation with or without seizures,616756
HADH97.10.990.953-hydroxyacyl-CoA dehydrogenase deficiency,231530
HADH97.10.990.95Hyperinsulinemic hypoglycemia, familial, 4609975
HADHA71.70.950.9Fatty liver, acute, of pregnancy,609016
HADHA71.70.950.9HELLP syndrome, maternal, of pregnancy,609016
HADHA71.70.950.9LCHAD deficiency,609016
HADHA71.70.950.9Trifunctional protein deficiency,609015
HADHB83.90.930.84Trifunctional protein deficiency,609015
HAMP146.211Hemochromatosis, type 2B,613313
HARS130.711Charcot-Marie-Tooth disease, axonal, type 2W,616625
HARS130.711Usher syndrome type 3B,614504
HAX111711Neutropenia, severe congenital 3 autosomal recessive,610738
HBA199.910.99Erythremias, alpha-610738
HBA199.910.99Heinz body anemias, alpha-,140700
HBA199.910.99Hemoglobin H disease, nondeletional,613978
HBA199.910.99Methemoglobinemias, alpha-613978
HBA199.910.99Thalassemias, alpha-,604131
HBA288.20.930.85Erythrocytosis604131
HBA288.20.930.85Heinz body anemia,140700
HBA288.20.930.85Hemoglobin H disease, nondeletional,613978
HBA288.20.930.85Hypochromic microcytic anemia613978
HBA288.20.930.85Thalassemia, alpha-,604131
HBB151.811Delta-beta thalassemia,141749
HBB151.811Erythremias, beta-141749
HBB151.811Heinz body anemias, beta-,140700
HBB151.811Hereditary persistence of fetal hemoglobin,141749
HBB151.811Methemoglobinemias, beta-141749
HBB151.811Sickle cell anemia,603903
HBB151.811Thalassemia-beta, dominant inclusion-body,603902
HBB151.811Thalassemias, beta-,613985
HBB151.811{Malaria, resistance to},611162
HBD189.411Thalassemia due to Hb Lepore611162
HBD189.411Thalassemia, delta-611162
HBG115310.99Fetal hemoglobin quantitative trait locus 1141749
HBG2211.311Cyanosis, transient neonatal,613977
HBG2211.311Fetal hemoglobin quantitative trait locus 1141749
HCCS11610.99Linear skin defects with multiple congenital anomalies 1309801
HCFC1124.70.990.98Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ),309541
HCN1114.510.95Epileptic encephalopathy, early infantile, 24615871
HCN477.50.980.92Brugada syndrome 8613123
HCN477.50.980.92Sick sinus syndrome 2163800
HDAC8162.111Cornelia de Lange syndrome 5300882
HEATR290.60.870.81Ciliary dyskinesia, primary, 18614874
HELLS850.910.87Immunodeficiency-centromeric instability-facial anomalies syndrome 4,616911
HEPACAM113.80.920.79Megalencephalic leukoencephalopathy with subcortical cysts 2A,613925
HEPACAM113.80.920.79Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental613925
HEPACAM113.80.920.79retardation,613926
HERC1158.50.990.99Macrocephaly, dysmorphic facies, and psychomotor retardation,617011
HERC292.40.780.74Mental retardation, autosomal recessive 38615516
HERC292.40.780.74[Skin/hair/eye pigmentation 1 blond/brown hair],227220
HERC292.40.780.74[Skin/hair/eye pigmentation 1 blue/nonblue eyes],227220
HES7340.70.63Spondylocostal dysostosis 4 autosomal recessive,613686
HESX162.80.990.88Growth hormone deficiency with pituitary anomalies,182230
HESX162.80.990.88Pituitary hormone deficiency, combined, 5182230
HESX162.80.990.88Septooptic dysplasia,182230
HEXA105.811GM2-gangliosidosis, several forms,272800
HEXA105.811Tay-Sachs disease,272800
HEXA105.811[Hex A pseudodeficiency],272800
HEXB120.70.940.85Sandhoff disease, infantile, juvenile, and adult forms,268800
HFE119.411Hemochromatosis,235200
HFE119.411[Transferrin serum level QTL2],614193
HFE119.411{Alzheimer disease, susceptibility to},104300
HFE119.411{Microvascular complications of diabetes 7},612635
HFE119.411{Porphyria cutanea tarda, susceptibility to},176100
HFE119.411{Porphyria variegata, susceptibility to},176200
HFE2106.111Hemochromatosis type 2A,602390
HFM143.90.90.8Premature ovarian failure 9615724
HGD116.411Alkaptonuria,203500
HGF128.70.990.96Deafness, autosomal recessive 39608265
HGSNAT100.10.810.81Mucopolysaccharidosis type IIIC (Sanfilippo C),252930
HGSNAT100.10.810.81Retinitis pigmentosa 73616544
HIBCH640.920.693-hydroxyisobutryl-CoA hydrolase deficiency,250620
HINT1540.990.88Neuromyotonia and axonal neuropathy, autosomal recessive,137200
HIVEP2168.211Mental retardation, autosomal dominant 43616977
HK1125.20.990.98Hemolytic anemia due to hexokinase deficiency,235700
HK1125.20.990.98Neuropathy, hereditary motor and sensory, Russe type,605285
HLCS142.811Holocarboxylase synthetase deficiency,253270
HMBS92.70.990.95Porphyria, acute intermittent,176000
HMBS92.70.990.95Porphyria, acute intermittent, nonerythroid variant,176000
HMGCL117.111HMG-CoA lyase deficiency,246450
HMGCS2122.111HMG-CoA synthase-2 deficiency,605911
HMOX11140.930.88Heme oxygenase-1 deficiency,614034
HMOX11140.930.88{Pulmonary disease, chronic obstructive, susceptibility to},606963
HMX117.60.710.36Oculoauricular syndrome,612109
HNF1A123.80.990.96Diabetes mellitus, insulin-dependent, 20612520
HNF1A123.80.990.96Hepatic adenoma, somatic,142330
HNF1A123.80.990.96MODY, type III,600496
HNF1A123.80.990.96Renal cell carcinoma,144700
HNF1A123.80.990.96{Diabetes mellitus, insulin-dependent},222100
HNF1A123.80.990.96{Diabetes mellitus, noninsulin-dependent, 2},125853
HNF1B111.311Diabetes mellitus, noninsulin-dependent,125853
HNF1B111.311Renal cysts and diabetes syndrome,137920
HNF1B111.311{Renal cell carcinoma},144700
HNF4A126.80.980.97Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young,616026
HNF4A126.80.980.97MODY, type I,125850
HNF4A126.80.980.97{Diabetes mellitus, noninsulin-dependent},125853
HNMT121.710.96Mental retardation, autosomal recessive 51616739
HNMT121.710.96{Asthma, susceptibility to},600807
HNRNPA165.50.90.74Amyotrophic lateral sclerosis 20615426
HNRNPA165.50.90.74?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3615424
HNRNPDL59.30.940.79Muscular dystrophy, limb-girdle, type 1G,609115
HNRNPK63.90.830.74Au-Kline syndrome,616580
HOGA1115.210.89Hyperoxaluria, primary, type III,613616
HOXA112711Athabaskan brainstem dysgenesis syndrome,601536
HOXA112711Bosley-Salih-Alorainy syndrome,601536
HOXA1189.90.920.79Radioulnar synostosis with amegakaryocytic thrombocytopenia 1605432
HOXA1341.50.70.62Guttmacher syndrome,176305
HOXA1341.50.70.62Hand-foot-uterus syndrome,140000
HOXB193.611Facial paresis, hereditary congenital, 3614744
HOXC1381.40.950.87Ectodermal dysplasia 9 hair/nail type,614931
HOXD10114.711Charcot-Marie-Tooth disease, foot deformity of,192950
HOXD10114.711Vertical talus, congenital,192950
HOXD1393.20.920.9Brachydactyly, type D,113200
HOXD1393.20.920.9Brachydactyly, type E,113300
HOXD1393.20.920.9Syndactyly, type V,186300
HOXD1393.20.920.9Synpolydactyly 1186000
HOXD1393.20.920.9?Brachydactyly-syndactyly syndrome,610713
HPCA223.211Dystonia 2 torsion, autosomal recessive,224500
HPD124.911Hawkinsinuria,140350
HPD124.911Tyrosinemia, type III,276710
HPGD83.410.97Cranioosteoarthropathy,259100
HPGD83.410.97Digital clubbing, isolated congenital,119900
HPGD83.410.97Hypertrophic osteoarthropathy, primary, autosomal recessive 1259100
HPRT182.30.960.89HPRT-related gout,300323
HPRT182.30.960.89Lesch-Nyhan syndrome,300322
HPS1104.910.99Hermansky-Pudlak syndrome 1203300
HPS3122.810.98Hermansky-Pudlak syndrome 3614072
HPS4124.811Hermansky-Pudlak syndrome 4614073
HPS51290.990.95Hermansky-Pudlak syndrome 5614074
HPS6107.40.980.85Hermansky-Pudlak syndrome 6614075
HPSE2107.30.930.9Urofacial syndrome 1236730
HR86.30.970.94Alopecia universalis,203655
HR86.30.970.94Atrichia with papular lesions,209500
HR86.30.970.94Hypotrichosis 4146550
HRAS164.211Congenital myopathy with excess of muscle spindles,218040
HRAS164.211Costello syndrome,218040
HRAS164.211Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic,163200
HRAS164.211{Bladder cancer, somatic},109800
HRAS164.211{Nevus sebaceous or woolly hair nevus, somatic},162900
HRAS164.211{Spitz nevus or nevus spilus, somatic},137550
HRAS164.211{Thyroid carcinoma, follicular, somatic},188470
HRG150.90.960.94Thrombophilia due to elevated HRG,613116
HRG150.90.960.94Thrombophilia due to HRG deficiency,613116
HSD11B1148.711Cortisone reductase deficiency 2614662
HSD11B2128.20.890.85Apparent mineralocorticoid excess,218030
HSD17B101191117-beta-hydroxysteroid dehydrogenase X deficiency,300438
HSD17B1011911?Mental retardation, X-linked syndromic 10300220
HSD17B3128.711Pseudohermaphroditism, male, with gynecomastia,264300
HSD17B487.30.920.89D-bifunctional protein deficiency,261515
HSD17B487.30.920.89Perrault syndrome 1233400
HSD3B2139.3113-beta-hydroxysteroid dehydrogenase, type II, deficiency,201810
HSD3B7130.410.93Bile acid synthesis defect, congenital, 1607765
HSF489.90.960.92Cataract 5 multiple types,116800
HSPA9790.860.84Anemia, sideroblastic, 4182170
HSPA9790.860.84Even-plus syndrome,616854
HSPB1390.940.82Charcot-Marie-Tooth disease, axonal, type 2F,606595
HSPB1390.940.82Neuropathy, distal hereditary motor, type IIB,608634
HSPB8128.411Charcot-Marie-Tooth disease, axonal, type 2L,608673
HSPB8128.411Neuropathy, distal hereditary motor, type IIA,158590
HSPD174.80.930.81Leukodystrophy, hypomyelinating, 4612233
HSPD174.80.930.81Spastic paraplegia 13 autosomal dominant,605280
HSPG2101.20.990.97Dyssegmental dysplasia, Silverman-Handmaker type,224410
HSPG2101.20.990.97Schwartz-Jampel syndrome, type 1255800
HTR1A161.311Periodic fever, menstrual cycle dependent,614674
HTRA183.50.830.77CARASIL syndrome,600142
HTRA183.50.830.77Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2600142
HTRA183.50.830.77Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2616779
HTRA183.50.830.77{Macular degeneration, age-related, 7},610149
HTRA183.50.830.77{Macular degeneration, age-related, neovascular type},610149
HTT129.60.980.95Huntington disease,143100
HUWE1117.80.990.98Mental retardation, X-linked syndromic, Turner type,300706
HYDIN114.60.990.99Ciliary dyskinesia, primary, 5608647
HYLS1151.811Hydrolethalus syndrome,236680
ICK125.710.99Endocrine-cerebroosteodysplasia,612651
ICOS136.611Immunodeficiency, common variable, 1607594
IDH281.110.96D-2-hydroxyglutaric aciduria 2613657
IDH3B142.911Retinitis pigmentosa 46612572
IDS112.410.98Mucopolysaccharidosis II,309900
IDUA85.10.890.82Mucopolysaccharidosis Ih,607014
IDUA85.10.890.82Mucopolysaccharidosis Ih/s,607015
IDUA85.10.890.82Mucopolysaccharidosis Is,607016
IER3IP147.10.870.77Microcephaly, epilepsy, and diabetes syndrome,614231
IFIH1109.10.970.95Aicardi-Goutieres syndrome 7615846
IFIH1109.10.970.95Singleton-Merten syndrome 1182250
IFITM555.80.930.85Osteogenesis imperfecta, type V,610967
IFNGR112510.98Immunodeficiency 27A, mycobacteriosis, AR,209950
IFNGR112510.98Immunodeficiency 27B, mycobacteriosis, AD,615978
IFNGR112510.98{H, pylori infection, susceptibility to},600263
IFNGR112510.98{Hepatitis B virus infection, susceptibility to},610424
IFNGR112510.98{Tuberculosis infection, protection against},607948
IFNGR112510.98{Tuberculosis, susceptibility to},607948
IFNGR2120.80.930.93Immunodeficiency 28 mycobacteriosis,614889
IFT122130.410.99Cranioectodermal dysplasia 1218330
IFT14098.20.990.97Short-rib thoracic dysplasia 9 with or without polydactyly,266920
IFT1721020.990.97Retinitis pigmentosa 71616394
IFT1721020.990.97Short-rib thoracic dysplasia 10 with or without polydactyly,615630
IFT43100.811Cranioectodermal dysplasia 3614099
IFT8048.70.780.54Short-rib thoracic dysplasia 2 with or without polydactyly,611263
IGBP1119.40.990.95Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia,300472
IGF1125.411Growth retardation with deafness and mental retardation due to IGF1 deficiency,608747
IGF1R121.110.98Insulin-like growth factor I, resistance to,270450
IGF2R121.10.970.96Hepatocellular carcinoma, somatic,114550
IGFALS56.410.94Acid-labile subunit, deficiency of,615961
IGFBP760.20.960.81Retinal arterial macroaneurysm with supravalvular pulmonic stenosis,614224
IGHG239.70.820.6IgG2 deficiency, selective614224
IGHM176.111Agammaglobulinemia 1601495
IGHMBP288.40.960.89Charcot-Marie-Tooth disease, axonal, type 2S,616155
IGHMBP288.40.960.89Neuronopathy, distal hereditary motor, type VI,604320
IGKC12311Kappa light chain deficiency,614102
IGLL160.70.990.95Agammaglobulinemia 2613500
IGSF110310.99Hypothyroidism, central, and testicular enlargement,300888
IHH107.711Acrocapitofemoral dysplasia,607778
IHH107.711Brachydactyly, type A1,112500
IKBKAP128.40.990.98Dysautonomia, familial,223900
IKBKB107.50.960.92Immunodeficiency 15615592
IKBKG510.90.73Ectodermal dysplasia, hypohidrotic, with immune deficiency,300291
IKBKG510.90.73Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency,300301
IKBKG510.90.73Immunodeficiency 33300636
IKBKG510.90.73Immunodeficiency, isolated,300584
IKBKG510.90.73Incontinentia pigmenti,308300
IKBKG510.90.73Invasive pneumococcal disease, recurrent isolated, 2300640
IKZF1164.111Immunodeficiency,common variable, 1,616873
IL10RA125.111Inflammatory bowel disease 28 early onset, autosomal recessive,613148
IL10RB166.20.950.95Inflammatory bowel disease 25 early onset, autosomal recessive,612567
IL10RB166.20.950.95{Hepatitis B virus, susceptibility to},610424
IL11RA122.811Craniosynostosis and dental anomalies,614188
IL12B99.410.97Immunodeficiency 29 mycobacteriosis,614890
IL12RB1110.80.960.93Immunodeficiency 30614891
IL17RC79.30.990.96Candidiasis, familial, 9616445
IL17RD114.410.96Hypogonadotropic hypogonadism 18 with or without anosmia,615267
IL1RAPL1150.311Mental retardation, X-linked 21/34,300143
IL1RN147.611Interleukin 1 receptor antagonist deficiency,612852
IL1RN147.611{Gastric cancer risk after H, pylori infection},137215
IL1RN147.611{Microvascular complications of diabetes 4},612628
IL21R116.311Immunodeficiency, primary, autosomal recessive, IL21R-related,615207
IL21R116.311[IgE, elevated level of],147050
IL2RA104.610.96Immunodeficiency 41 with lymphoproliferation and autoimmunity,606367
IL2RA104.610.96{Diabetes, mellitus, insulin-dependent, susceptibility to, 10},601942
IL2RG83.411Combined immunodeficiency, X-linked, moderate,312863
IL2RG83.411Severe combined immunodeficiency, X-linked,300400
IL31RA124.311Amyloidosis, primary localized cutaneous, 2613955
IL36RN74.611Psoriasis 14 pustular,614204
IL7R120.610.99Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type,608971
ILDR194.10.990.98Deafness, autosomal recessive 42609646
IMPAD1126.810.99Chondrodysplasia with joint dislocations, GPAPP type,614078
IMPDH1450.870.77Leber congenital amaurosis 11613837
IMPDH1450.870.77Retinitis pigmentosa 10180105
IMPG199.80.990.97Macular dystrophy, vitelliform, 4616151
IMPG2151.80.980.96Macular dystrophy, vitelliform, 5616152
IMPG2151.80.980.96Retinitis pigmentosa 56613581
INF273.60.920.89Charcot-Marie-Tooth disease, dominant intermediate E,614455
INF273.60.920.89Glomerulosclerosis, focal segmental, 5613237
ING1102.610.95Squamous cell carcinoma, head and neck, somatic,275355
INPP5E86.60.920.9Joubert syndrome 1213300
INPP5E86.60.920.9Mental retardation, truncal obesity, retinal dystrophy, and micropenis,610156
INPPL1107.80.970.9Opsismodysplasia,258480
INS84.711Diabetes mellitus, insulin-dependent, 2125852
INS84.711Diabetes mellitus, permanent neonatal,606176
INS84.711Hyperproinsulinemia,616214
INS84.711Maturity-onset diabetes of the young, type 10613370
INSL380.90.80.8Cryptorchidism,219050
INSR112.20.950.92Diabetes mellitus, insulin-resistant, with acanthosis nigricans,610549
INSR112.20.950.92Hyperinsulinemic hypoglycemia, familial, 5609968
INSR112.20.950.92Leprechaunism,246200
INSR112.20.950.92Rabson-Mendenhall syndrome,262190
INVS144.10.990.99Nephronophthisis 2 infantile,602088
IQCB187.60.860.71Senior-Loken syndrome 5609254
IQSEC272.60.950.88Mental retardation, X-linked 1/78,309530
IRAK487.910.85Invasive pneumococcal disease, recurrent isolated, 1610799
IRAK487.910.85IRAK4 deficiency,607676
IRF1143.610.98Gastric cancer, somatic,613659
IRF1143.610.98Myelodysplastic syndrome, preleukemic613659
IRF1143.610.98Myelogenous leukemia, acute613659
IRF1143.610.98Nonsmall cell lung cancer, somatic,211980
IRF6106.910.97Popliteal pterygium syndrome 1119500
IRF6106.910.97van der Woude syndrome,119300
IRF6106.910.97{Orofacial cleft 6},608864
IRF894.40.970.93Immunodeficiency 32A, mycobacteriosis, autosomal dominant,614893
IRF894.40.970.93Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive,614894
IRGM161.811Inflammatory bowel disease 19612278
IRGM161.811{Mycobacterium tuberculosis, protection against},607948
IRX5670.890.82Hamamy syndrome,611174
ISCA261.60.980.83Multiple mitochondrial dysfunctions syndrome 4616370
ISCU11211Myopathy with lactic acidosis, hereditary,255125
ISG15121.911Immunodeficiency 38616126
ISPD97.60.990.84Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7614643
ISPD97.60.990.84Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7616052
ITCH106.40.950.95Autoimmune disease, multisystem, with facial dysmorphism,613385
ITGA2B99.80.980.96Bleeding disorder, platelet-type, 16 autosomal dominant,187800
ITGA2B99.80.980.96Glanzmann thrombasthenia,273800
ITGA2B99.80.980.96Thrombocytopenia, neonatal alloimmune, BAK antigen related273800
ITGA3118.90.980.95Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital,614748
ITGA6134.20.990.98Epidermolysis bullosa, junctional, with pyloric stenosis,226730
ITGA7108.90.990.96Muscular dystrophy, congenital, due to ITGA7 deficiency,613204
ITGA81180.990.97Renal hypodysplasia/aplasia 1191830
ITGB2148.711Leukocyte adhesion deficiency,116920
ITGB3125.50.980.96Bleeding disorder, platelet-type, 16 autosomal dominant,187800
ITGB3125.50.980.96Glanzmann thrombasthenia,273800
ITGB3125.50.980.96Purpura, posttransfusion273800
ITGB3125.50.980.96Thrombocytopenia, neonatal alloimmune273800
ITGB3125.50.980.96{Myocardial infarction, susceptibility to},608446
ITGB4123.40.970.94Epidermolysis bullosa of hands and feet,131800
ITGB4123.40.970.94Epidermolysis bullosa, junctional, non-Herlitz type,226650
ITGB4123.40.970.94Epidermolysis bullosa, junctional, with pyloric atresia,226730
ITGB6126.90.950.95Amelogenesis imperfecta, type IH,616221
ITK110.810.97Lymphoproliferative syndrome 1613011
ITM2B101.910.94Dementia, familial British,176500
ITM2B101.910.94Dementia, familial Danish,117300
ITM2B101.910.94?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities,616079
ITPA112.511Epileptic encephalopathy, early infantile, 35616647
ITPA112.511[Inosine triphosphatase deficiency],613850
ITPR1135.910.98Gillespie syndrome,206700
ITPR1135.910.98Spinocerebellar ataxia 15606658
ITPR1135.910.98Spinocerebellar ataxia 29 congenital nonprogressive,117360
IVD98.710.97Isovaleric acidemia,243500
IYD101.30.980.96Thyroid dyshormonogenesis 4274800
JAG1127.40.980.97Alagille syndrome,118450
JAG1127.40.980.97Tetralogy of Fallot,187500
JAG1127.40.980.97?Deafness, congenital heart defects, and posterior embryotoxon187500
JAGN1126.111Neutropenia, severe congenital, 6 autosomal recessive,616022
JAK283.30.950.88Erythrocytosis, somatic,133100
JAK283.30.950.88Leukemia, acute myeloid, somatic,601626
JAK283.30.950.88Myelofibrosis, somatic,254450
JAK283.30.950.88Polycythemia vera, somatic,263300
JAK283.30.950.88Thrombocythemia 3614521
JAK283.30.950.88{Budd-Chiari syndrome, somatic},600800
JAK387.20.960.93SCID, autosomal recessive, T-negative/B-positive type,600802
JAM3133.810.97Hemorrhagic destruction of the brain, subependymal calcification, and cataracts,613730
JPH286.50.940.83Cardiomyopathy, hypertrophic, 17613873
JPH3117.911Huntington disease-like 2606438
JUP126.30.990.98Arrhythmogenic right ventricular dysplasia 12611528
JUP126.30.990.98Naxos disease,601214
KAL1100.60.890.86Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1),308700
KANK1133.811Cerebral palsy, spastic quadriplegic, 2612900
KANK2130.310.99Palmoplantar keratoderma and woolly hair,616099
KANSL163.30.940.85Koolen-De Vries syndrome,610443
KARS104.710.99Deafness, autosomal recessive 89613916
KARS104.710.99?Charcot-Marie-Tooth disease, recessive intermediate, B,613641
KAT6A154.110.99Mental retardation, autosomal dominant 32616268
KAT6B150.70.990.97Genitopatellar syndrome,606170
KAT6B150.70.990.97SBBYSS syndrome,603736
KATNB1125.511Lissencephaly 6 with microcephaly,616212
KBTBD1387.80.980.92Nemaline myopathy 6 autosomal dominant,609273
KCNA1124.90.990.98Episodic ataxia/myokymia syndrome,160120
KCNA2130.811Epileptic encephalopathy, early infantile, 32616366
KCNA5130.310.93Atrial fibrillation, familial, 7612240
KCNB1115.811Epileptic encephalopathy, early infantile, 26616056
KCNC115511Epilepsy, progressive myoclonic 7616187
KCNC3132.50.660.57Spinocerebellar ataxia 13605259
KCND3168.210.96Brugada syndrome 9616399
KCND3168.210.96Spinocerebellar ataxia 19607346
KCNE1388.511Jervell and Lange-Nielsen syndrome 2612347
KCNE1388.511Long QT syndrome 5613695
KCNE214210.94Atrial fibrillation, familial, 4611493
KCNE214210.94Long QT syndrome 6613693
KCNE3158.211Brugada syndrome 6613119
KCNH1157.510.99Temple-Baraitser syndrome,611816
KCNH1157.510.99Zimmermann-Laband syndrome 1135500
KCNH290.30.910.82Long QT syndrome 2613688
KCNH290.30.910.82Short QT syndrome 1609620
KCNH290.30.910.82{Long QT syndrome 2 acquired, susceptibility to},613688
KCNJ1205.111Bartter syndrome, type 2241200
KCNJ10171.310.98Enlarged vestibular aqueduct, digenic,600791
KCNJ10171.310.98SESAME syndrome,612780
KCNJ11230.511Diabetes mellitus, permanent neonatal, with neurologic features,606176
KCNJ11230.511Diabetes mellitus, transient neonatal, 3610582
KCNJ11230.511Diabetes, permanent neonatal,606176
KCNJ11230.511Hyperinsulinemic hypoglycemia, familial, 2601820
KCNJ11230.511Maturity-onset diabetes of the young, type 13616329
KCNJ11230.511{Diabetes mellitus, type 2 susceptibility to},125853
KCNJ13165.111Leber congenital amaurosis 16614186
KCNJ13165.111Snowflake vitreoretinal degeneration,193230
KCNJ2172.111Andersen syndrome,170390
KCNJ2172.111Atrial fibrillation, familial, 9613980
KCNJ2172.111Short QT syndrome 3609622
KCNJ5183.20.990.96Hyperaldosteronism, familial, type III,613677
KCNJ5183.20.990.96Long QT syndrome 13613485
KCNJ615511Keppen-Lubinsky syndrome,614098
KCNK3124.70.980.94Pulmonary hypertension, primary, 4615344
KCNK9152.411Birk-Barel mental retardation dysmorphism syndrome,612292
KCNMA1119.711Generalized epilepsy and paroxysmal dyskinesia,609446
KCNN4102.711Dehydrated hereditary stomatocytosis 2616689
KCNQ1102.60.930.91Atrial fibrillation, familial, 3607554
KCNQ1102.60.930.91Jervell and Lange-Nielsen syndrome,220400
KCNQ1102.60.930.91Long QT syndrome 1192500
KCNQ1102.60.930.91Short QT syndrome 2609621
KCNQ1102.60.930.91{Long QT syndrome 1 acquired, susceptibility to},192500
KCNQ1102.60.930.91KCNQ1OT1 NC NC NC Beckwith-Wiedemann syndrome,130650
KCNQ284.40.990.98Epileptic encephalopathy, early infantile, 7613720
KCNQ284.40.990.98Myokymia,121200
KCNQ284.40.990.98Seizures, benign neonatal, 1121200
KCNQ393.910.95Seizures, benign neonatal, type 2121201
KCNQ4119.90.940.85Deafness, autosomal dominant 2A,600101
KCNT198.70.950.89Epilepsy, nocturnal frontal lobe, 5615005
KCNT198.70.950.89Epileptic encephalopathy, early infantile, 14614959
KCNV2106.411Retinal cone dystrophy 3B,610356
KCTD1119.40.910.85Scalp-ear-nipple syndrome,181270
KCTD1790.20.970.89Dystonia 26 myoclonic,616398
KCTD7117.80.940.92Epilepsy, progressive myoclonic 3 with or without intracellular inclusions,611726
KDM1A121.40.970.93Cleft palate, psychomotor retardation, and distinctive facial features,616728
KDM5C126.40.970.96Mental retardation, X-linked, syndromic, Claes-Jensen type,300534
KDM6A127.30.940.89Kabuki syndrome 2300867
KDR128.810.99Hemangioma, capillary infantile, somatic,602089
KDR128.810.99{Hemangioma, capillary infantile, susceptibility to},602089
KERA17311Cornea plana congenita, recessive,217300
KHDC3L125.710.99Hydatidiform mole, recurrent, 2614293
KIAA0196123.80.970.95Ritscher-Schinzel syndrome 1220210
KIAA0196123.80.970.95Spastic paraplegia 8 autosomal dominant,603563
KIAA0586101.50.990.89Joubert syndrome 23616490
KIAA0586101.50.990.89Short-rib thoracic dysplasia 14 with polydactyly,616546
KIAA1279165.110.99Goldberg-Shprintzen megacolon syndrome,609460
KIAA2022186.810.99Mental retardation, X-linked 98300912
KIF1178.50.970.91Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation,152950
KIF1A112.10.990.95Mental retardation, autosomal dominant 9614255
KIF1A112.10.990.95Neuropathy, hereditary sensory, type IIC,614213
KIF1A112.10.990.95Spastic paraplegia 30 autosomal recessive,610357
KIF1B137.70.990.98Pheochromocytoma,171300
KIF1B137.70.990.98?Charcot-Marie-Tooth disease, type 2A1,118210
KIF1B137.70.990.98{Neuroblastoma, susceptibility to, 1},256700
KIF1C93.510.99Spastic ataxia 2 autosomal recessive,611302
KIF21A111.20.990.95Fibrosis of extraocular muscles, congenital, 1135700
KIF21A111.20.990.95Fibrosis of extraocular muscles, congenital, 3B,135700
KIF22127.70.990.98Spondyloepimetaphyseal dysplasia with joint laxity, type 2603546
KIF2A93.60.960.82Cortical dysplasia, complex, with other brain malformations 3615411
KIF5A111.510.99Spastic paraplegia 10 autosomal dominant,604187
KIF5C980.990.97Cortical dysplasia, complex, with other brain malformations 2615282
KIF771.10.960.84Acrocallosal syndrome,200990
KIF771.10.960.84Joubert syndrome 12200990
KIF771.10.960.84?Al-Gazali-Bakalinova syndrome,607131
KIF771.10.960.84?Hydrolethalus syndrome 2614120
KIRREL3130.210.98Mental retardation, autosomal dominant 4612581
KISS1R82.50.990.96Hypogonadotropic hypogonadism 8 with or without anosmia,614837
KISS1R82.50.990.96?Precocious puberty, central, 1176400
KIT140.510.99Gastrointestinal stromal tumor, familial,606764
KIT140.510.99Germ cell tumors,273300
KIT140.510.99Leukemia, acute myeloid,601626
KIT140.510.99Mast cell disease,154800
KIT140.510.99Piebaldism,172800
KITLG75.40.920.85Deafness, congenital, unilateral or asymmetric,616697
KITLG75.40.920.85Hyperpigmentation with or without hypopigmentation,145250
KITLG75.40.920.85[Skin/hair/eye pigmentation 7 blond/brown hair],611664
KIZ155.910.95Retinitis pigmentosa 69615780
KL150.20.950.94Tumoral calcinosis, hyperphosphatemic,211900
KL150.20.950.94{Coronary artery disease, susceptibility to}211900
KLC2100.910.98Spastic paraplegia, optic atrophy, and neuropathy,609541
KLF148.60.90.83Blood group--Lutheran inhibitor,111150
KLF148.60.90.83Dyserythropoietic anemia, congenital, type IV,613673
KLF148.60.90.83[Hereditary persistence of fetal hemoglobin],613566
KLF11145.511Maturity-onset diabetes of the young, type VII,610508
KLF6115.110.96Gastric cancer, somatic,613659
KLF6115.110.96Prostate cancer, somatic,176807
KLHL10177.610.98Spermatogenic failure 11615081
KLHL3122.50.990.99Pseudohypoaldosteronism, type IID,614495
KLHL40113.811Nemaline myopathy 8 autosomal recessive,615348
KLHL41173.410.99Nemaline myopathy 9615731
KLHL7112.90.980.96Cold induced sweating syndrome 3617055
KLHL7112.90.980.96Retinitis pigmentosa 42612943
KLK4170.710.98Amelogenesis imperfecta, type IIA1,204700
KLKB1142.20.930.92Fletcher factor (prekallikrein) deficiency,612423
KLLN108.611Cowden syndrome 4615107
KMT2A141.30.990.98Leukemia, myeloid/lymphoid or mixed-lineage615107
KMT2A141.30.990.98Wiedemann-Steiner syndrome,605130
KMT2D126.410.99Kabuki syndrome 1147920
KPTN96.110.98Mental retardation, autosomal recessive 41615637
KRAS54.910.99Bladder cancer, somatic,109800
KRAS54.910.99Breast cancer, somatic,114480
KRAS54.910.99Cardiofaciocutaneous syndrome 2615278
KRAS54.910.99Gastric cancer, somatic,137215
KRAS54.910.99Leukemia, acute myeloid,601626
KRAS54.910.99Lung cancer, somatic,211980
KRAS54.910.99Noonan syndrome 3609942
KRAS54.910.99Pancreatic carcinoma, somatic,260350
KRAS54.910.99RAS-associated autoimmune leukoproliferative disorder,614470
KRAS54.910.99Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic,163200
KRIT176.60.980.9Cavernous malformations of CNS and retina,116860
KRIT176.60.980.9Cerebral cavernous malformations-1,116860
KRIT176.60.980.9Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary116860
KRIT176.60.980.9malformations,116860
KRT112111Epidermolytic hyperkeratosis,113800
KRT112111Ichthyosis histrix, Curth-Macklin type,146590
KRT112111Ichthyosis, cyclic, with epidermolytic hyperkeratosis,607602
KRT112111Keratosis palmoplantaris striata III,607654
KRT112111Palmoplantar keratoderma, epidermolytic,144200
KRT112111Palmoplantar keratoderma, nonepidermolytic,600962
KRT1089.50.990.9Epidermolytic hyperkeratosis,113800
KRT1089.50.990.9Ichthyosis with confetti,609165
KRT1089.50.990.9Ichthyosis, cyclic, with epidermolytic hyperkeratosis,607602
KRT1298.70.970.93Meesmann corneal dystrophy,122100
KRT13103.310.99White sponge nevus 2615785
KRT1447.90.870.78Dermatopathia pigmentosa reticularis,125595
KRT1447.90.870.78Epidermolysis bullosa simplex, Dowling-Meara type,131760
KRT1447.90.870.78Epidermolysis bullosa simplex, Koebner type,131900
KRT1447.90.870.78Epidermolysis bullosa simplex, recessive 1601001
KRT1447.90.870.78Epidermolysis bullosa simplex, Weber-Cockayne type,131800
KRT1447.90.870.78Naegeli-Franceschetti-Jadassohn syndrome,161000
KRT1634.10.730.53Pachyonychia congenita 1167200
KRT1634.10.730.53Palmoplantar keratoderma, nonepidermolytic, focal,613000
KRT1718.50.50.34Pachyonychia congenita 2167210
KRT1718.50.50.34Steatocystoma multiplex,184500
KRT1827.90.640.6Cirrhosis, cryptogenic,215600
KRT1827.90.640.6{Cirrhosis, noncryptogenic, susceptibility to},215600
KRT2107.40.980.97Ichthyosis bullosa of Siemens,146800
KRT25127.711Woolly hair, autosomal recessive 3616760
KRT383.210.99Meesmann corneal dystrophy,122100
KRT4101.711White sponge nevus 1193900
KRT5103.111Dowling-Degos disease 1179850
KRT5103.111Epidermolysis bullosa simplex, Dowling-Meara type,131760
KRT5103.111Epidermolysis bullosa simplex, Koebner type,131900
KRT5103.111Epidermolysis bullosa simplex, recessive 1601001
KRT5103.111Epidermolysis bullosa simplex, Weber-Cockayne type,131800
KRT5103.111Epidermolysis bullosa simplex-MP,131960
KRT5103.111Epidermylysis bullosa simplex-MCR,609352
KRT6A137.90.90.83Pachyonychia congenita 3615726
KRT6B136.60.880.85Pachyonychia congenita 4615728
KRT6C129.40.840.77Palmoplantar keratoderma, nonepidermolytic, focal or diffuse,615735
KRT74118.711Woolly hair, autosomal dominant,194300
KRT74118.711?Ectodermal dysplasia 7 hair/nail type,614929
KRT74118.711?Hypotrichosis 3613981
KRT831.50.890.67Cirrhosis, cryptogenic,215600
KRT831.50.890.67{Cirrhosis, noncryptogenic, susceptibility to},215600
KRT8181.110.92Monilethrix,158000
KRT8590.40.990.94Ectodermal dysplasia 4 hair/nail type,602032
KRT8688.210.93Monilethrix,158000
KRT967.10.950.93Palmoplantar keratoderma, epidermolytic,144200
L1CAM153.410.99Corpus callosum, partial agenesis of,304100
L1CAM153.410.99CRASH syndrome,303350
L1CAM153.410.99Hydrocephalus due to aqueductal stenosis,307000
L1CAM153.410.99Hydrocephalus with congenital idiopathic intestinal pseudoobstruction,307000
L1CAM153.410.99Hydrocephalus with Hirschsprung disease,307000
L1CAM153.410.99MASA syndrome,303350
L2HGDH116.20.970.94L-2-hydroxyglutaric aciduria,236792
LAMA1124.110.99Poretti-Boltshauser syndrome,615960
LAMA2134.30.990.99Muscular dystrophy, congenital merosin-deficient,607855
LAMA2134.30.990.99Muscular dystrophy, congenital, due to partial LAMA2 deficiency,607855
LAMA3134.40.990.98Epidermolysis bullosa, generalized atrophic benign,226650
LAMA3134.40.990.98Epidermolysis bullosa, junctional, Herlitz type,226700
LAMA3134.40.990.98Laryngoonychocutaneous syndrome,245660
LAMA4121.310.99Cardiomyopathy, dilated, 1JJ,615235
LAMB1150.610.98Lissencephaly 5615191
LAMB2162.40.990.98Nephrotic syndrome, type 5 with or without ocular abnormalities,614199
LAMB2162.40.990.98Pierson syndrome,609049
LAMB3105.810.98Amelogenesis imperfecta, type IA,104530
LAMB3105.810.98Epidermolysis bullosa, junctional, Herlitz type,226700
LAMB3105.810.98Epidermolysis bullosa, junctional, non-Herlitz type,226650
LAMC2105.10.990.96Epidermolysis bullosa, junctional, Herlitz type,226700
LAMC2105.10.990.96Epidermolysis bullosa, junctional, non-Herlitz type,226650
LAMC3101.40.970.93Cortical malformations, occipital,614115
LAMP2143.80.920.92Danon disease,300257
LAMTOR2149.811Immunodeficiency due to defect in MAPBP-interacting protein,610798
LARGE113.710.98Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6613154
LARGE113.710.98Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6608840
LARP7460.790.59Alazami syndrome,615071
LARS2119.811Perrault syndrome 4615300
LARS2119.811?Hydrops, lactic acidosis, and sideroblastic anemia,617021
LAS1L110.510.99Wilson-Turner syndrome,309585
LBR72.70.930.77Greenberg skeletal dysplasia,215140
LBR72.70.930.77Pelger-Huet anomaly,169400
LBR72.70.930.77?Reynolds syndrome,613471
LCA5112.20.990.95Leber congenital amaurosis 5604537
LCAT131.810.88Fish-eye disease,136120
LCAT131.810.88Norum disease,245900
LCT1110.990.96Lactase deficiency, congenital,223000
LDB3106.80.940.93Cardiomyopathy, dilated, 1C, with or without LVNC,601493
LDB3106.80.940.93Cardiomyopathy, hypertrophic, 24601493
LDB3106.80.940.93Left ventricular noncompaction 3601493
LDB3106.80.940.93Myopathy, myofibrillar, 4609452
LDHA48.50.910.84Glycogen storage disease XI,612933
LDLR147.60.970.95Hypercholesterolemia, familial,143890
LDLR147.60.970.95LDL cholesterol level QTL2,143890
LDLRAP1130.310.9Hypercholesterolemia, familial, autosomal recessive,603813
LEF1103.911Sebaceous tumors, somatic,153245
LEFTY240.20.850.71Left-right axis malformations,601877
LEMD260.40.950.8Cataract 46 juvenile-onset,212500
LEMD387.90.950.9Buschke-Ollendorff syndrome,166700
LEMD387.90.950.9Melorheostosis with osteopoikilosis,155950
LEMD387.90.950.9Osteopoikilosis,166700
LEP161.710.96Obesity, morbid, due to leptin deficiency,614962
LEPR103.70.930.89Obesity, morbid, due to leptin receptor deficiency,614963
LEPRE111811Osteogenesis imperfecta, type VIII,610915
LEPREL189.10.990.91Myopia, high, with cataract and vitreoretinal degeneration,614292
LGI1177.410.92Epilepsy, familial temporal lobe, 1600512
LHB26.20.990.74Hypogonadotropic hypogonadism 23 with or without anosmia,228300
LHCGR141.90.920.92Leydig cell adenoma, somatic, with precocious puberty,176410
LHCGR141.90.920.92Leydig cell hypoplasia with hypergonadotropic hypogonadism,238320
LHCGR141.90.920.92Leydig cell hypoplasia with pseudohermaphroditism,238320
LHCGR141.90.920.92Luteinizing hormone resistance, female,238320
LHCGR141.90.920.92Precocious puberty, male,176410
LHFPL5215.911Deafness, autosomal recessive 67610265
LHX388.210.96Pituitary hormone deficiency, combined, 3221750
LHX4109.611Pituitary hormone deficiency, combined, 4262700
LIAS135.110.97Hyperglycinemia, lactic acidosis, and seizures,614462
LIFR112.90.960.89Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome,601559
LIG181.710.97DNA ligase I deficiency601559
LIG4150.311LIG4 syndrome,606593
LIG4150.311{Multiple myeloma, resistance to},254500
LIM289.210.98Cataract 19 multiple types,615277
LIMS299.50.930.92Muscular dystrophy, limb-girdle, type 2W,616827
LINS11910.97Mental retardation, autosomal recessive 27614340
LIPA104.10.950.93Cholesteryl ester storage disease,278000
LIPA104.10.950.93Wolman disease,278000
LIPC101.310.98Hepatic lipase deficiency,614025
LIPC101.310.98[High density lipoprotein cholesterol level QTL 12],612797
LIPC101.310.98{Diabetes mellitus, noninsulin-dependent},125853
LIPE93.50.980.97Lipodystrophy, familial partial, type 6615980
LIPH111.611Hypotrichosis 7604379
LIPH111.611Woolly hair, autosomal recessive 2 with or without hypotrichosis,604379
LIPN120.410.92Ichthyosis, congenital, autosomal recessive 8613943
LIPT1218.411Lipoyltransferase 1 deficiency,616299
LITAF100.40.970.9Charcot-Marie-Tooth disease, type 1C,601098
LMAN1116.10.960.87Combined factor V and VIII deficiency,227300
LMBR190.20.980.92Acheiropody,200500
LMBR190.20.980.92Hypoplastic or aplastic tibia with polydactyly,188740
LMBR190.20.980.92Laurin-Sandrow syndrome,135750
LMBR190.20.980.92Polydactyly, preaxial type II,174500
LMBR190.20.980.92Syndactyly, type IV,186200
LMBR190.20.980.92Triphalangeal thumb, type I,174500
LMBR190.20.980.92Triphalangeal thumb-polysyndactyly syndrome,174500
LMBRD165.80.890.81Methylmalonic aciduria and homocystinuria, cblF type,277380
LMF1125.210.98Lipase deficiency, combined,246650
LMNA69.20.910.86Cardiomyopathy, dilated, 1A,115200
LMNA69.20.910.86Charcot-Marie-Tooth disease, type 2B1,605588
LMNA69.20.910.86Emery-Dreifuss muscular dystrophy 2 AD,181350
LMNA69.20.910.86Emery-Dreifuss muscular dystrophy 3 AR,616516
LMNA69.20.910.86Heart-hand syndrome, Slovenian type,610140
LMNA69.20.910.86Hutchinson-Gilford progeria,176670
LMNA69.20.910.86Lipodystrophy, familial partial, 2151660
LMNA69.20.910.86Malouf syndrome,212112
LMNA69.20.910.86Mandibuloacral dysplasia,248370
LMNA69.20.910.86Muscular dystrophy, congenital,613205
LMNA69.20.910.86Muscular dystrophy, limb-girdle, type 1B,159001
LMNA69.20.910.86Restrictive dermopathy, lethal,275210
LMNB111110.97Leukodystrophy, adult-onset, autosomal dominant,169500
LMOD3130.110.99Nemaline myopathy 10616165
LMX1B99.410.88Nail-patella syndrome,161200
LONP1131.60.960.9CODAS syndrome,600373
LOR14.20.80.25Vohwinkel syndrome with ichthyosis,604117
LOXHD1114.710.98Deafness, autosomal recessive 77613079
LPAR697.40.960.93Hypotrichosis 8278150
LPAR697.40.960.93Woolly hair, autosomal recessive 1 with or without hypotrichosis,278150
LPIN1118.60.980.9Myoglobinuria, acute recurrent, autosomal recessive,268200
LPIN210911Majeed syndrome,609628
LPL137.810.99Combined hyperlipidemia, familial,144250
LPL137.810.99Lipoprotein lipase deficiency,238600
LPL137.810.99[High density lipoprotein cholesterol level QTL 11]238600
LPP112.711Leukemia, acute myeloid,601626
LPP112.711Lipoma601626
LRAT239.211Leber congenital amaurosis 14613341
LRAT239.211Retinal dystrophy, early-onset severe,613341
LRAT239.211Retinitis pigmentosa, juvenile,613341
LRBA120.20.980.95Immunodeficiency, common variable, 8 with autoimmunity,614700
LRIG2138.60.970.97Urofacial syndrome 2615112
LRIT3138.90.930.92Night blindness, congenital stationary (complete), 1F, autosomal recessive,615058
LRP2154.410.99Donnai-Barrow syndrome,222448
LRP4141.20.980.98Cenani-Lenz syndactyly syndrome,212780
LRP4141.20.980.98Sclerosteosis 2614305
LRP4141.20.980.98?Myasthenic syndrome, congenital, 17616304
LRP51550.990.98Exudative vitreoretinopathy 4601813
LRP51550.990.98Hyperostosis, endosteal,144750
LRP51550.990.98Osteopetrosis, autosomal dominant 1607634
LRP51550.990.98Osteoporosis-pseudoglioma syndrome,259770
LRP51550.990.98Osteosclerosis,144750
LRP51550.990.98van Buchem disease, type 2607636
LRP51550.990.98[Bone mineral density variability 1],601884
LRP51550.990.98{Osteoporosis},166710
LRP6136.310.99Tooth agenesis, selective, 7616724
LRP6136.310.99{Coronary artery disease, autosomal dominant, 2},610947
LRPAP1121.10.970.9Myopia 23 autosomal recessive,615431
LRPPRC1130.990.95Leigh syndrome, French-Canadian type,220111
LRRC6152.60.950.89Ciliary dyskinesia, primary, 19614935
LRRC8A222.910.99Agammaglobulinemia 5613506
LRSAM11230.990.98Charcot-Marie-Toothe disease, axonal, type 2P,614436
LRTOMT108.80.930.91Deafness, autosomal recessive 63611451
LSS101.410.98Cataract 44616509
LTBP2890.990.97Glaucoma 3 primary congenital, D,613086
LTBP2890.990.97Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma,613086
LTBP2890.990.97Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma,251750
LTBP2890.990.97Weill-Marchesani syndrome 3 recessive,614819
LTBP399.30.970.95Dental anomalies and short stature,601216
LTBP496.20.990.94Cutis laxa, autosomal recessive, type IC,613177
LYRM736.10.820.57Mitochondrial complex III deficiency, nuclear type 8615838
LYST122.80.980.92Chediak-Higashi syndrome,214500
LYZ156.811Amyloidosis, renal,105200
LZTFL1111.60.990.92Bardet-Biedl syndrome 17615994
LZTR1124.510.97Noonan syndrome 10616564
LZTR1124.510.97{Schwannomatosis-2, susceptibility to},615670
LZTS178.811Esophageal squamous cell carcinoma,133239
MAB21L2206.111Microphthalmia, syndromic 14615877
MAD1L18710.93Lymphoma, somatic615877
MAD1L18710.93Prostate cancer, somatic,176807
MAF48.50.740.69Ayme-Gripp syndrome,601088
MAF48.50.740.69Cataract 21 multiple types,610202
MAFB95.610.98Duane retraction syndrome 3617041
MAFB95.610.98Multicentric carpotarsal osteolysis syndrome,166300
MAG121.410.99Spastic paraplegia 75 autosomal recessive,616680
MAGED29010.99Bartter syndrome, type 5,antenatal,transient,300971
MAGEL2115.511Schaaf-Yang syndrome,615547
MAGT1136.60.980.98Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia,300853
MAK134.30.930.93Retinitis pigmentosa 62614181
MALT1125.30.90.83Immunodeficiency 12615468
MAML2110.611Mucoepidermoid salivary gland carcinoma615468
MAMLD1144.710.99Hypospadias 2 X-linked,300758
MAN1B1128.510.99Mental retardation, autosomal recessive 15614202
MAN2B11080.980.94Mannosidosis, alpha-, types I and II,248500
MANBA112.510.93Mannosidosis, beta,248510
MAOA14811Brunner syndrome,300615
MAOA14811{Antisocial behavior},300615
MAP2K186.910.92Cardiofaciocutaneous syndrome 3615279
MAP2K292.20.940.88Cardiofaciocutaneous syndrome 4615280
MAP3K1143.40.920.8846XY sex reversal 6613762
MAP3K8140.211Lung cancer, somatic,211980
MAPRE2175.810.99Symmetric circumferential skin creases, congenital, 2616734
MAPT55.90.990.87Dementia, frontotemporal, with or without parkinsonism,600274
MAPT55.90.990.87Pick disease,172700
MAPT55.90.990.87Supranuclear palsy, progressive atypical,260540
MAPT55.90.990.87Supranuclear palsy, progressive,601104
MAPT55.90.990.87{Parkinson disease, susceptibility to},168600
MARS112.510.96Charcot-Marie-Tooth disease, axonal, type 2U,616280
MARS112.510.96Interstitial lung and liver disease,615486
MARS2128.611Spastic ataxia 3 autosomal recessive,611390
MARS2128.611?Combined oxidative phosphorylation deficiency 25616430
MARVELD2142.20.940.92Deafness, autosomal recessive 49610153
MASP1123.710.993MC syndrome 1257920
MASP21250.990.95MASP2 deficiency,613791
MAT1A141.90.970.94Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III613791
MAT1A141.90.970.94deficiency,250850
MAT1A141.90.970.94Methionine adenosyltransferase deficiency, autosomal recessive,250850
MATN3100.10.840.84Epiphyseal dysplasia, multiple, 5607078
MATN3100.10.840.84Spondyloepimetaphyseal dysplasia,608728
MATN3100.10.840.84{Osteoarthritis susceptibility 2},140600
MATR374.30.950.86Amyotrophic lateral sclerosis 21606070
MBD5160.911Mental retardation, autosomal dominant 1156200
MBTPS2147.410.98IFAP syndrome with or without BRESHECK syndrome,308205
MBTPS2147.410.98Keratosis follicularis spinulosa decalvans, X-linked,308800
MBTPS2147.410.98?Olmsted syndrome, X-linked,300918
MC2R165.910.98Glucocorticoid deficiency, due to ACTH unresponsiveness,202200
MC4R263.311Obesity, autosomal dominant,601665
MCC125.40.990.98Colorectal cancer, somatic,114500
MCCC1131.210.993-Methylcrotonyl-CoA carboxylase 1 deficiency,210200
MCCC2116.70.990.973-Methylcrotonyl-CoA carboxylase 2 deficiency,210210
MCEE8911Methylmalonyl-CoA epimerase deficiency,251120
MCFD290.911Factor V and factor VIII, combined deficiency of,613625
MCM4145.910.99Natural killer cell and glucocorticoid deficiency with DNA repair defect,609981
MCM6150.211Lactase persistence/nonpersistence,223100
MCM9128.711Ovarian dysgenesis 4616185
MCOLN1129.30.990.96Mucolipidosis IV,252650
MCPH1123.80.990.95Microcephaly 1 primary, autosomal recessive,251200
MECOM133.90.990.97Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738
MECP2100.510.97Encephalopathy, neonatal severe,300673
MECP2100.510.97Mental retardation, X-linked syndromic, Lubs type,300260
MECP2100.510.97Mental retardation, X-linked, syndromic 13300055
MECP2100.510.97Rett syndrome,312750
MECP2100.510.97Rett syndrome, atypical,312750
MECP2100.510.97Rett syndrome, preserved speech variant,312750
MECP2100.510.97{Autism susceptibility, X-linked 3},300496
MED12118.110.97Lujan-Fryns syndrome,309520
MED12118.110.97Ohdo syndrome, X-linked,300895
MED12118.110.97Opitz-Kaveggia syndrome,305450
MED13L118.30.990.97Mental retardation and distinctive facial features with or without cardiac defects,616789
MED13L118.30.990.97Transposition of the great arteries, dextro-looped 1608808
MED17116.50.980.93Microcephaly, postnatal progressive, with seizures and brain atrophy,613668
MED23116.30.990.97Mental retardation, autosomal recessive 18614249
MED2590.70.980.94Basel-Vanagait-Smirin-Yosef syndrome,616449
MED2590.70.980.94?Charcot-Marie-Tooth disease, type 2B2,605589
MEF2C121.40.910.88Chromosome 5q14,3 deletion syndrome,613443
MEF2C121.40.910.88Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations,613443
MEFV104.90.940.89Familial Mediterranean fever, AD,134610
MEFV104.90.940.89Familial Mediterranean fever, AR,249100
MEGF10133.411Myopathy, areflexia, respiratory distress, and dysphagia, early-onset,614399
MEGF10133.411Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant,614399
MEGF8103.70.990.96Carpenter syndrome 2614976
MEN1103.70.990.92Adrenal adenoma, somatic614976
MEN1103.70.990.92Angiofibroma, somatic614976
MEN1103.70.990.92Carcinoid tumor of lung614976
MEN1103.70.990.92Lipoma, somatic614976
MEN1103.70.990.92Multiple endocrine neoplasia 1131100
MEN1103.70.990.92Parathyroid adenoma, somatic131100
MEOX182.20.950.92Klippel-Feil syndrome 2214300
MERTK151.410.98Retinitis pigmentosa 38613862
MESP261.20.890.81Spondylocostal dysostosis 2 autosomal recessive,608681
MET169.110.99Hepatocellular carcinoma, childhood type, somatic,114550
MET169.110.99Renal cell carcinoma, papillary, 1 familial and somatic,605074
MET169.110.99?Deafness, autosomal recessive 97616705
MET169.110.99{Osteofibrous dysplasia,susceptibility to},607278
METTL23119.111Mental retardation, autosomal recessive 44615942
MFAP5107.510.99Aortic aneurysm, familial thoracic 9616166
MFN2120.810.99Charcot-Marie-Tooth disease, type 2A2,609260
MFN2120.810.99Hereditary motor and sensory neuropathy VIA,601152
MFRP118.711Microphthalmia, isolated 5611040
MFRP118.711Nanophthalmos 2609549
MFSD2A109.311Microcephaly 15 primary, autosomal recessive,616486
MFSD8111.810.99Ceroid lipofuscinosis, neuronal, 7610951
MFSD8111.810.99Macular dystrophy with central cone involvement,616170
MGAT211710.99Congenital disorder of glycosylation, type IIa,212066
MGME1161.510.99Mitochondrial DNA depletion syndrome 11615084
MGP139.70.910.91Keutel syndrome,245150
MIB1131.710.98Left ventricular noncompaction 7615092
MICU1109.50.960.92Myopathy with extrapyramidal signs,615673
MID1182.311Opitz GBBB syndrome, type I,300000
MINPP1137.60.990.96Thyroid carcinoma, follicular,188470
MIP99.20.90.85Cataract 15 multiple types,615274
MIP99.20.90.85MIR17HG NC NC NC Feingold syndrome 2614326
MIP99.20.90.85MIR184 NC NC NC EDICT syndrome,614303
MIP99.20.90.85MIR96 NC NC NC Deafness, autosomal dominant 50613074
MITF128.311Tietz albinism-deafness syndrome,103500
MITF128.311Waardenburg syndrome, type 2A,193510
MITF128.311Waardenburg syndrome/ocular albinism, digenic,103470
MITF128.311{Melanoma, cutaneous malignant, susceptibility to, 8},614456
MKKS185.30.890.89Bardet-Biedl syndrome 6605231
MKKS185.30.890.89McKusick-Kaufman syndrome,236700
MKL197.50.960.88Megakaryoblastic leukemia, acute236700
MKRN396.110.98Precocious puberty, central, 2615346
MKS1870.990.97Bardet-Biedl syndrome 13615990
MKS1870.990.97Meckel syndrome 1249000
MLC195.310.98Megalencephalic leukoencephalopathy with subcortical cysts,604004
MLH1147.810.99Colorectal cancer, hereditary nonpolyposis, type 2609310
MLH1147.810.99Mismatch repair cancer syndrome,276300
MLH1147.810.99Muir-Torre syndrome,158320
MLH3143.810.99Colorectal cancer, hereditary nonpolyposis, type 7614385
MLH3143.810.99Colorectal cancer, somatic,114500
MLH3143.810.99{Endometrial cancer, susceptibility to},608089
MLLT10121.20.950.9Leukemia,acute myeloid,601626
MLLT1179.510.97Leukemia, acute myelomonocytic, somatic,607785
MLPH85.810.98Griscelli syndrome, type 3609227
MLYCD68.70.920.89Malonyl-CoA decarboxylase deficiency,248360
MMAA156.211Methylmalonic aciduria, vitamin B12-responsive,251100
MMAB88.310.97Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB251100
MMAB88.310.97complementation type,251110
MMACHC159.511Methylmalonic aciduria and homocystinuria, cblC type,277400
MMADHC58.50.820.64Homocystinuria, cblD type, variant 1277410
MMADHC58.50.820.64Methylmalonic aciduria and homocystinuria, cblD type,277410
MMADHC58.50.820.64Methylmalonic aciduria, cblD type, variant 2277410
MME88.80.960.89Charcot-Marie-Tooth disease, axonal, type 2T,617017
MME88.80.960.89?Spinocerebellar ataxia 43617018
MMP1147.310.97COPD, rate of decline of lung function in,606963
MMP1147.310.97{Epidermolysis bullosa dystrophica, autosomal recessive, modifier of},226600
MMP13114.20.920.91Metaphyseal anadysplasia 1602111
MMP13114.20.920.91Spondyloepimetaphyseal dysplasia, Missouri type,602111
MMP19109.210.99Cavitary optic disc anomalies,611543
MMP213210.99Multicentric osteolysis, nodulosis, and arthropathy,259600
MMP2090.510.99Amelogenesis imperfecta, type IIA2,612529
MMP2197.70.890.83Heterotaxy, visceral, 7 autosomal,616749
MMP997.710.98Metaphyseal anadysplasia 2613073
MN185.90.960.93Meningioma,607174
MNX128.90.730.55Currarino syndrome,176450
MOCOS152.810.98Xanthinuria, type II,603592
MOCS176.90.930.88Molybdenum cofactor deficiency A,252150
MOCS2128.20.990.98Molybdenum cofactor deficiency B,252160
MOGS94.60.990.98Congenital disorder of glycosylation, type IIb,606056
MORC2120.110.99Charcot-Marie-Tooth disease, axonal, type 2Z,616688
MPC111410.98Mitochondrial pyruvate carrier deficiency,614741
MPDU1112.510.98Congenital disorder of glycosylation, type If,609180
MPDZ141.40.980.95Hydrocephalus, nonsyndromic, autosomal recessive 2615219
MPI108.910.99Congenital disorder of glycosylation, type Ib,602579
MPL121.90.990.93Myelofibrosis with myeloid metaplasia, somatic,254450
MPL121.90.990.93Thrombocythemia 2601977
MPL121.90.990.93Thrombocytopenia, congenital amegakaryocytic,604498
MPLKIP73.80.980.74Trichothiodystrophy 4 nonphotosensitive,234050
MPO134.210.99Myeloperoxidase deficiency,254600
MPO134.210.99{Alzheimer disease, susceptibility to},104300
MPO134.210.99{Lung cancer, protection against, in smokers}104300
MPV17101.410.99Mitochondrial DNA depletion syndrome 6 (hepatocerebral type),256810
MPZ92.910.96Charcot-Marie-Tooth disease, dominant intermediate D,607791
MPZ92.910.96Charcot-Marie-Tooth disease, type 1B,118200
MPZ92.910.96Charcot-Marie-Tooth disease, type 2I,607677
MPZ92.910.96Charcot-Marie-Tooth disease, type 2J,607736
MPZ92.910.96Dejerine-Sottas disease,145900
MPZ92.910.96Neuropathy, congenital hypomyelinating,605253
MPZ92.910.96Roussy-Levy syndrome,180800
MRAP137.411Glucocorticoid deficiency 2607398
MRE11A48.80.980.85Ataxia-telangiectasia-like disorder,604391
MRPL354.40.940.82Combined oxidative phosphorylation deficiency 9614582
MRPS16117.411Combined oxidative phosphorylation deficiency 2610498
MRPS22125.40.980.89Combined oxidative phosphorylation deficiency 5611719
MS4A1106.710.93Immunodeficiency, common variable, 5613495
MSH291.80.950.87Colorectal cancer, hereditary nonpolyposis, type 1120435
MSH291.80.950.87Mismatch repair cancer syndrome,276300
MSH291.80.950.87Muir-Torre syndrome,158320
MSH3101.50.990.94Endometrial carcinoma, somatic,608089
MSH3101.50.990.94Familial adenomatous polyposis 4,6171608089
MSH6142.610.99Colorectal cancer, hereditary nonpolyposis, type 5614350
MSH6142.610.99Endometrial cancer, familial,608089
MSH6142.610.99Mismatch repair cancer syndrome,276300
MSMO1350.850.7Microcephaly, congenital cataract, and psoriasiform dermatitis,616834
MSR1173.311Barrett esophagus/esophageal adenocarcinoma,614266
MSR1173.311Prostate cancer, hereditary,176807
MSRB3122.910.95Deafness, autosomal recessive 74613718
MSTN176.710.98Muscle hypertrophy,614160
MSX156.20.960.91Ectodermal dysplasia 3 Witkop type,189500
MSX156.20.960.91Orofacial cleft 5608874
MSX156.20.960.91Tooth agenesis, selective, 1 with or without orofacial cleft,106600
MSX28110.84Craniosynostosis, type 2604757
MSX28110.84Parietal foramina 1168500
MSX28110.84Parietal foramina with cleidocranial dysplasia,168550
MTAP98.30.90.84Diaphyseal medullary stenosis with malignant fibrous histiocytoma,112250
MTFMT122.30.980.94Combined oxidative phosphorylation deficiency 15614947
MTHFR117.311Homocystinuria due to MTHFR deficiency,236250
MTHFR117.311{Neural tube defects, susceptibility to},601634
MTHFR117.311{Schizophrenia, susceptibility to},181500
MTHFR117.311{Thromboembolism, susceptibility to},188050
MTHFR117.311{Vascular disease, susceptibility to}188050
MTM1115.20.990.97Myotubular myopathy, X-linked,310400
MTMR2107.311Charcot-Marie-Tooth disease, type 4B1,601382
MTO1140.90.890.85Combined oxidative phosphorylation deficiency 10614702
MTOR117.20.990.99Smith-Kingsmore syndrome,616638
MTPAP108.70.970.84Ataxia, spastic, 4613672
MTR126.410.99Homocystinuria-megaloblastic anemia, cblG complementation type,250940
MTR126.410.99{Neural tube defects, folate-sensitive, susceptibility to},601634
MTRR114.90.990.97Homocystinuria-megaloblastic anemia, cbl E type,236270
MTRR114.90.990.97{Neural tube defects, folate-sensitive, susceptibility to},601634
MTTP12210.96Abetalipoproteinemia,200100
MTTP12210.96{Metabolic syndrome, protection against},605552
MUC188.70.970.92Medullary cystic kidney disease 1174000
MUSK146.211Fetal akinesia deformation sequence,208150
MUSK146.211Myasthenic syndrome, congenital, 9 associated with acetylcholine receptor deficiency,616325
MUT105.10.970.91Methylmalonic aciduria, mut(0) type,251000
MUTYH126.510.97Adenomas, multiple colorectal,608456
MUTYH126.510.97Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas,132600
MUTYH126.510.97Gastric cancer, somatic,613659
MVD9511Porokeratosis 7 multiple types,614714
MVK120.911Hyper-IgD syndrome,260920
MVK120.911Mevalonic aciduria,610377
MVK120.911Porokeratosis 3 multiple types,175900
MXI197.90.880.83Neurofibrosarcoma175900
MXI197.90.880.83{Prostate cancer, susceptibility to},176807
MYBPC114510.99Arthrogryposis, distal, type 1B,614335
MYBPC114510.99Lethal congenital contracture syndrome 4614915
MYBPC3118.70.990.94Cardiomyopathy, dilated, 1MM,615396
MYBPC3118.70.990.94Cardiomyopathy, hypertrophic, 4115197
MYBPC3118.70.990.94Left ventricular noncompaction 10615396
MYC151.511Burkitt lymphoma,113970
MYCN80.10.990.89Feingold syndrome,164280
MYD88145.110.98Macroglobulinemia, Waldenstrom, somatic,153600
MYD88145.110.98Pyogenic bacterial infections, recurrent, due to MYD88 deficiency,612260
MYF6100.211Myopathy, centronuclear, 3614408
MYH11109.210.98Aortic aneurysm, familial thoracic 4132900
MYH1489.20.950.85Deafness, autosomal dominant 4A,600652
MYH1489.20.950.85?Peripheral neuropathy, myopathy, hoarseness, and hearing loss,614369
MYH2111.70.980.96Proximal myopathy and ophthalmoplegia,605637
MYH396.30.990.96Arthrogryposis, distal, type 2A,193700
MYH396.30.990.96Arthrogryposis, distal, type 2B,601680
MYH396.30.990.96Arthrogryposis, distal, type 8178110
MYH699.90.990.9Atrial septal defect 3614089
MYH699.90.990.9Cardiomyopathy, dilated, 1EE,613252
MYH699.90.990.9Cardiomyopathy, hypertrophic, 14613251
MYH699.90.990.9{Sick sinus syndrome 3},614090
MYH798.10.970.94Cardiomyopathy, dilated, 1S,613426
MYH798.10.970.94Cardiomyopathy, hypertrophic, 1192600
MYH798.10.970.94Left ventricular noncompaction 5613426
MYH798.10.970.94Liang distal myopathy,160500
MYH798.10.970.94Myopathy, myosin storage, autosomal dominant,608358
MYH798.10.970.94Myopathy, myosin storage, autosomal recessive,255160
MYH798.10.970.94Scapuloperoneal syndrome, myopathic type,181430
MYH8115.70.990.98Carney complex variant,608837
MYH8115.70.990.98Trismus-pseudocamptodactyly syndrome,158300
MYH9115.90.990.97Deafness, autosomal dominant 17603622
MYH9115.90.990.97Epstein syndrome,153650
MYH9115.90.990.97Fechtner syndrome,153640
MYH9115.90.990.97Macrothrombocytopenia and progressive sensorineural deafness,600208
MYH9115.90.990.97May-Hegglin anomaly,155100
MYH9115.90.990.97Sebastian syndrome,605249
MYL2131.20.990.94Cardiomyopathy, hypertrophic, 10608758
MYL3101.811Cardiomyopathy, hypertrophic, 8608751
MYLK133.80.990.99Aortic aneurysm, familial thoracic 7613780
MYLK293.510.98Cardiomyopathy, hypertrophic, 1 digenic,192600
MYO15A96.80.950.91Deafness, autosomal recessive 3600316
MYO18B110.70.990.97Klippel-Feil syndrome 4 autosomal recessive, with myopathy and facial dysmorphism,616549
MYO1E118.80.970.92Glomerulosclerosis, focal segmental, 6614131
MYO3A107.90.960.91Deafness, autosomal recessive 30607101
MYO5A114.310.98Griscelli syndrome, type 1214450
MYO5B124.70.970.96Microvillus inclusion disease,251850
MYO678.60.950.89Deafness, autosomal dominant 22606346
MYO678.60.950.89Deafness, autosomal dominant 22 with hypertrophic cardiomyopathy,606346
MYO678.60.950.89Deafness, autosomal recessive 37607821
MYO7A120.10.980.95Deafness, autosomal dominant 11601317
MYO7A120.10.980.95Deafness, autosomal recessive 2600060
MYO7A120.10.980.95Usher syndrome, type 1B,276900
MYOC141.510.99Glaucoma 1A, primary open angle,137750
MYOT130.70.960.88Muscular dystrophy, limb-girdle, type 1A,159000
MYOT130.70.960.88Myopathy, myofibrillar, 3609200
MYOT130.70.960.88Myopathy, spheroid body,182920
MYOZ2138.411Cardiomyopathy, hypertrophic, 16613838
MYPN129.70.990.98Cardiomyopathy, dilated, 1KK,615248
MYPN129.70.990.98Cardiomyopathy, familial restrictive, 4615248
MYPN129.70.990.98Cardiomyopathy, hypertrophic, 22615248
MYT1L1530.990.99Mental retardation, autosomal dominant 39616521
NAA10112.310.97Ogden syndrome,300855
NAA10112.310.97?Microphthalmia, syndromic 1309800
NAGA118.411Kanzaki disease,609242
NAGA118.411Schindler disease, type I,609241
NAGA118.411Schindler disease, type III,609241
NAGLU97.60.940.91Mucopolysaccharidosis type IIIB (Sanfilippo B),252920
NAGLU97.60.940.91?Charcot-Marie-Tooth disease, axonal, type 2V,616491
NAGS61.610.92N-acetylglutamate synthase deficiency,237310
NALCN12710.97Congenital contractures of the limbs and face, hypotonia, and developmental delay,616266
NALCN12710.97Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419
NANOS132.30.930.74Spermatogenic failure 12615413
NANS102.311Sponyloepimetaphyseal dysplasia, Genevieve type,610442
NARS2127.10.970.96Combined oxidative phosphorylation deficiency 24616239
NBAS131.90.980.96Infantile liver failure syndrome 2616483
NBAS131.90.980.96Short stature, optic nerve atrophy, and Pelger-Huet anomaly,614800
NBEAL2147.30.990.99Gray platelet syndrome,139090
NBN74.30.960.92Aplastic anemia,609135
NBN74.30.960.92Leukemia, acute lymphoblastic,613065
NBN74.30.960.92Nijmegen breakage syndrome,251260
NCF114.40.250.2Chronic granulomatous disease due to deficiency of NCF-1,233700
NCF2104.80.980.96Chronic granulomatous disease due to deficiency of NCF-2,233710
NCF4138.611Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III,613960
NCSTN107.411Acne inversa, familial, 1142690
NDE184.311Lissencephaly 4 (with microcephaly),614019
NDE184.311?Microhydranencephaly,605013
NDN71.30.810.7Prader-Willi syndrome,176270
NDP152.611Exudative vitreoretinopathy 2 X-linked,305390
NDP152.611Norrie disease,310600
NDRG1114.111Charcot-Marie-Tooth disease, type 4D,601455
NDST1164.711Mental retardation, autosomal recessive 46616116
NDUFA1215.211Mitochondrial complex I deficiency,252010
NDUFA1176.610.9Mitochondrial complex I deficiency,252010
NDUFA12129.111Leigh syndrome due to mitochondrial complex 1 deficiency,256000
NDUFA2112.511Leigh syndrome due to mitochondrial complex I deficiency,256000
NDUFA91200.990.95Leigh syndrome due to mitochondrial complex I deficiency,256000
NDUFAF185.610.99Mitochondrial complex I deficiency,252010
NDUFAF252.40.820.7Leigh syndrome,256000
NDUFAF252.40.820.7Mitochondrial complex I deficiency,252010
NDUFAF396.511Mitochondrial complex I deficiency,252010
NDUFAF485.60.990.96Mitochondrial complex I deficiency,252010
NDUFAF596.40.940.93Mitochondrial complex 1 deficiency,252010
NDUFAF673.70.990.9Leigh syndrome due to mitochondrial complex I deficiency,256000
NDUFB11109.90.940.87Linear skin defects with multiple congenital anomalies 3300952
NDUFB312.30.620.28Mitochondrial complex I deficiency,252010
NDUFS1122.410.99Mitochondrial complex I deficiency,252010
NDUFS2940.990.98Mitochondrial complex I deficiency,252010
NDUFS3117.10.90.9Leigh syndrome due to mitochondrial complex I deficiency,256000
NDUFS3117.10.90.9Mitochondrial complex I deficiency,252010
NDUFS4141.610.99Leigh syndrome,256000
NDUFS4141.610.99Mitochondrial complex I deficiency,252010
NDUFS6121.311Mitochondrial complex I deficiency,252010
NDUFS711310.98Leigh syndrome,256000
NDUFS8102.111Leigh syndrome due to mitochondrial complex I deficiency,256000
NDUFV1133.910.97Mitochondrial complex I deficiency,252010
NDUFV258.20.830.49Mitochondrial complex I deficiency,252010
NEB114.40.820.81Nemaline myopathy 2 autosomal recessive,256030
NEFH83.70.980.97Charcot-Marie-Tooth disease,axonal,type 2CC,616924
NEFH83.70.980.97?{Amyotrophic lateral sclerosis, susceptibility to},105400
NEFL127.70.990.96Charcot-Marie-Tooth disease, type 1F,607734
NEFL127.70.990.96Charcot-Marie-Tooth disease, type 2E,607684
NEK199.10.970.91Short-rib thoracic dysplasia 6 with or without polydactyly,263520
NEK9123.70.990.96Lethal congenital contracture syndrome 10617022
NEK9123.70.990.96Nevus comedonicus, somatic,617025
NEK9123.70.990.96?Arthrogryposis, Perthes disease, and upward gaze palsy,614262
NEU112.20.610.15Sialidosis, type I,256550
NEU112.20.610.15Sialidosis, type II,256550
NEUROD1139.911Maturity-onset diabetes of the young 6606394
NEUROD1139.911{Diabetes mellitus, noninsulin-dependent},125853
NEUROG385.510.95Diarrhea 4 malabsorptive, congenital,610370
NEXN650.880.76Cardiomyopathy, dilated, 1CC,613122
NEXN650.880.76Cardiomyopathy, hypertrophic, 20613876
NF1110.40.920.87Leukemia, juvenile myelomonocytic,607785
NF1110.40.920.87Neurofibromatosis, familial spinal,162210
NF1110.40.920.87Neurofibromatosis, type 1162200
NF1110.40.920.87Neurofibromatosis-Noonan syndrome,601321
NF1110.40.920.87Watson syndrome,193520
NF289.610.99Meningioma, NF2-related, somatic,607174
NF289.610.99Neurofibromatosis, type 2101000
NF289.610.99Schwannomatosis,162091
NFIX127.60.980.97Marshall-Smith syndrome,602535
NFIX127.60.980.97Sotos syndrome 2614753
NFKB198.20.990.9Immunodeficiency, common variable, 12616576
NFKB2109.80.960.91Immunodeficiency, common variable, 10615577
NFKBIA94.60.940.91Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency,612132
NFU143.50.980.81Multiple mitochondrial dysfunctions syndrome 1605711
NGF218.411Neuropathy, hereditary sensory and autonomic, type V,608654
NGLY1117.110.99Congenital disorder of deglycosylation,615273
NHEJ167.811Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing615273
NHEJ167.811radiation,611291
NHLRC112611Epilepsy, progressive myoclonic 2B (Lafora),254780
NHP27110.99Dyskeratosis congenita, autosomal recessive 2613987
NHS144.90.950.93Cataract 40 X-linked,302200
NHS144.90.950.93Nance-Horan syndrome,302350
NIN1390.990.97Seckel syndrome 7614851
NIPA113510.97Spastic paraplegia 6 autosomal dominant,600363
NIPAL4129.510.97Ichthyosis, congenital, autosomal recessive 6612281
NIPBL99.70.960.95Cornelia de Lange syndrome 1122470
NKX2-139.210.91Chorea, hereditary benign,118700
NKX2-139.210.91Choreoathetosis, hypothyroidism, and neonatal respiratory distress,610978
NKX2-139.210.91{Thyroid cancer, monmedullary, 1},188550
NKX2-576.50.990.99Atrial septal defect 7 with or without AV conduction defects,108900
NKX2-576.50.990.99Conotruncal heart malformations, variable,217095
NKX2-576.50.990.99Hypoplastic left heart syndrome 2614435
NKX2-576.50.990.99Hypothyroidism, congenital nongoitrous, 5225250
NKX2-576.50.990.99Tetrology of Fallot,187500
NKX2-576.50.990.99Ventricular septal defect 3614432
NKX2-690.110.99Conotruncal heart malformations,217095
NKX2-690.110.99Persistent truncus arteriosus,217095
NKX3-2420.790.55Spondylo-megaepiphyseal-metaphyseal dysplasia,613330
NLGN4X188.310.97Mental retardation, X-linked,300495
NLGN4X188.310.97{Asperger syndrome susceptibility, X-linked 2},300497
NLGN4X188.310.97{Autism susceptibility, X-linked 2},300495
NLRC4146.410.99Autoinflammation with infantile enterocolitis,616050
NLRC4146.410.99?Familial cold autoinflammatory syndrome 4616115
NLRP121310.990.99Familial cold autoinflammatory syndrome 2611762
NLRP3128.610.99CINCA syndrome,607115
NLRP3128.610.99Familial cold-induced inflammatory syndrome 1120100
NLRP3128.610.99Muckle-Wells syndrome,191900
NLRP7120.90.990.97Hydatidiform mole,recurrent, 1,23109191900
NME180.510.96Neuroblastoma,256700
NME895.60.960.9Ciliary dyskinesia, primary, 6610852
NMNAT1114.710.96Leber congenital amaurosis 9608553
NNT127.70.970.96Glucocorticoid deficiency 4614736
NOBOX67.310.95Premature ovarian failure 5611548
NOD2122.610.99Blau syndrome,186580
NOD2122.610.99Sarcoidosis, early-onset,609464
NOD2122.610.99{Inflammatory bowel disease 1},266600
NOD2122.610.99{Psoriatic arthritis, susceptibility to},607507
NODAL131.211Heterotaxy, visceral, 5270100
NOG148.211Brachydactyly, type B2,611377
NOG148.211Multiple synostoses syndrome 1186500
NOG148.211Stapes ankylosis with broad thumb and toes,184460
NOG148.211Symphalangism, proximal, 1A,185800
NOG148.211Tarsal-carpal coalition syndrome,186570
NOL371.20.910.8Myoclonus, familial cortical,614937
NONO110.210.98Mental retardation, X-linked, syndromic 34300967
NOP10148.811Dyskeratosis congenita, autosomal recessive 1224230
NOP56111.50.980.95Spinocerebellar ataxia 36614153
NOTCH1125.30.990.97Adams-Oliver syndrome 5616028
NOTCH1125.30.990.97Aortic valve disease 1109730
NOTCH2150.510.99Alagille syndrome 2610205
NOTCH2150.510.99Hajdu-Cheney syndrome,102500
NOTCH398.30.940.89Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1125310
NOTCH398.30.940.89Lateral meningocele syndrome,130720
NOTCH398.30.940.89?Myofibromatosis, infantile 2615293
NPC1126.20.990.97Niemann-Pick disease, type C1,257220
NPC1126.20.990.97Niemann-Pick disease, type D,257220
NPC1126.20.990.97{Nasopharyngeal carcinoma 1}257220
NPC2121.911Niemann-pick disease, type C2,607625
NPHP1118.50.980.97Joubert syndrome 4609583
NPHP1118.50.980.97Nephronophthisis 1 juvenile,256100
NPHP1118.50.980.97Senior-Loken syndrome-1,266900
NPHP31050.970.91Meckel syndrome 7267010
NPHP31050.970.91Nephronophthisis 3604387
NPHP31050.970.91Renal-hepatic-pancreatic dysplasia 1208540
NPHP4122.110.99Nephronophthisis 4606966
NPHP4122.110.99Senior-Loken syndrome 4606996
NPHS190.70.990.96Nephrotic syndrome, type 1256300
NPHS293.310.98Nephrotic syndrome, type 2600995
NPM163.20.880.77Leukemia, acute myeloid, somatic,601626
NPPA89.210.99Atrial fibrillation, familial, 6612201
NPPA89.210.99Atrial standstill 2615745
NPR2148.311Acromesomelic dysplasia, Maroteaux type,602875
NPR2148.311Epiphyseal chondrodysplasia, Miura type,615923
NPR2148.311Short stature with nonspecific skeletal abnormalities,616255
NR0B1131.41146XY sex reversal 2 dosage-sensitive,300018
NR0B1131.411Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism,300200
NR0B278.411Obesity, mild, early-onset,601665
NR1H4138.60.960.89Cholestasis, progressive familial intrahepatic 5617049
NR2E384.711Enhanced S-cone syndrome,268100
NR2E384.711Retinitis pigmentosa 37611131
NR2F1164.311Bosch-Boonstra-Schaaf optic atrophy syndrome,615722
NR2F2170.20.940.91Congenital heart defects, multiple types, 4615779
NR3C1134.110.99Glucocorticoid resistance,615962
NR3C2149.90.990.95Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy,605115
NR3C2149.90.990.95Pseudohypoaldosteronism type I, autosomal dominant,177735
NR4A388.50.990.87Chondrosarcoma,extraskeletal myxoid,612237
NR5A174.810.9946XY sex reversal 3612965
NR5A174.810.99Adrenocortical insufficiency612965
NR5A174.810.99Premature ovarian failure 7612964
NR5A174.810.99Spermatogenic failure 8613957
NRAS175.311Colorectal cancer, somatic,114500
NRAS175.311Epidermal nevus, somatic,162900
NRAS175.311Melanocytic nevus syndrome, congenital, somatic,137550
NRAS175.311Neurocutaneous melanosis, somatic,249400
NRAS175.311Noonan syndrome 6613224
NRAS175.311Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic,163200
NRAS175.311Thyroid carcinoma, follicular, somatic,188470
NRAS175.311?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic,614470
NRL61.30.990.85Retinal degeneration, autosomal recessive, clumped pigment type614470
NRL61.30.990.85Retinitis pigmentosa 27613750
NRXN1142.90.980.97Pitt-Hopkins-like syndrome 2614325
NRXN1142.90.980.97{Schizophrenia, susceptibility to, 17},614332
NSD1139.411Beckwith-Wiedemann syndrome,130650
NSD1139.411Leukemia, acute myeloid,601626
NSD1139.411Sotos syndrome 1117550
NSDHL204.811CHILD syndrome,308050
NSDHL204.811CK syndrome,300831
NSMF91.70.960.94Hypogonadotropic hypogonadism 9 with or without anosmia,614838
NSUN298.80.940.87Mental retardation, autosomal recessive 5611091
NT5C2126.30.960.94Spastic paraplegia 45 autosomal recessive,613162
NT5C3A570.840.66Anemia, hemolytic, due to UMPH1 deficiency,266120
NT5E150.710.98Calcification of joints and arteries,211800
NTF449.90.920.81Glaucoma 1 open angle, 1O,613100
NTHL199.30.960.93Familial adenomatous polyposis 3616415
NTRK1111.110.97Insensitivity to pain, congenital, with anhidrosis,256800
NTRK1111.110.97Medullary thyroid carcinoma, familial,155240
NUBPL81.50.90.82Mitochondrial complex I deficiency,252010
NUMA1103.710.99Leukemia, acute promyelocytic, somatic,612376
NUP107104.80.980.9Nephrotic syndrome, type 11616730
NUP21413910.99Leukemia, acute myeloid, somatic,601626
NUP21413910.99Leukemia, T-cell acute lymphoblastic, somatic,613065
NUP62109.311Striatonigral degeneration, infantile,271930
NUP931210.960.93Nephrotic syndrome, type 12,616892
NYX86.70.970.96Night blindness, congenital stationary (complete), 1A, X-linked,310500
OAT73.40.70.65Gyrate atrophy of choroid and retina with or without ornithinemia,258870
OBSL1115.80.980.953-M syndrome 2612921
OCA2120.20.970.96Albinism, brown oculocutaneous,203200
OCA2120.20.970.96Albinism, oculocutaneous, type II,203200
OCA2120.20.970.96[Skin/hair/eye pigmentation 1 blond/brown hair],227220
OCA2120.20.970.96[Skin/hair/eye pigmentation 1 blue/nonblue eyes],227220
OCLN218.411Band-like calcification with simplified gyration and polymicrogyria,251290
OCRL164.310.99Dent disease 2300555
OCRL164.310.99Lowe syndrome,309000
OFD157.70.880.78Joubert syndrome 10300804
OFD157.70.880.78Orofaciodigital syndrome I,311200
OFD157.70.880.78Simpson-Golabi-Behmel syndrome, type 2300209
OFD157.70.880.78?Retinitis pigmentosa 23300424
OGG1121.411Renal cell carcinoma, clear cell, somatic,144700
OPA1113.80.970.92Behr syndrome,210000
OPA1113.80.970.92Optic atrophy 1165500
OPA1113.80.970.92Optic atrophy plus syndrome,125250
OPA1113.80.970.92?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type),616896
OPA1113.80.970.92{Glaucoma, normal tension, susceptibility to},606657
OPA390.60.970.943-methylglutaconic aciduria, type III,258501
OPA390.60.970.94Optic atrophy 3 with cataract,165300
OPHN1117.610.99Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance,300486
OPLAH94.310.975-oxoprolinase deficiency,260005
OPN1LW78.30.710.66Blue cone monochromacy,303700
OPN1LW78.30.710.66Colorblindness, protan,303900
OPN1MW40.70.660.62Blue cone monochromacy,303700
OPN1MW40.70.660.62Colorblindness, deutan,303800
OPN1SW103.411Colorblindness, tritan,190900
OPTN95.510.99Amyotrophic lateral sclerosis 12613435
OPTN95.510.99Glaucoma 1 open angle, E,137760
OPTN95.510.99{Glaucoma, normal tension, susceptibility to},606657
ORAI1175.40.930.89Immunodeficiency 9612782
ORAI1175.40.930.89Myopathy, tubular aggregate, 2615883
ORC195.70.980.93Meier-Gorlin syndrome 1224690
ORC459.10.950.85Meier-Gorlin syndrome 2613800
ORC6122.811Meier-Gorlin syndrome 3613803
OSBPL2130.311Deafness, autosomal dominant 67616340
OSMR120.910.99Amyloidosis, primary localized cutaneous, 1105250
OSTM153.70.90.83Osteopetrosis, autosomal recessive 5259720
OTC139.111Ornithine transcarbamylase deficiency,311250
OTOA99.50.980.95Deafness, autosomal recessive 22607039
OTOF116.60.990.98Auditory neuropathy, autosomal recessive, 1601071
OTOF116.60.990.98Deafness, autosomal recessive 9601071
OTOG1190.990.97Deafness, autosomal recessive 18B,614945
OTOGL110.80.980.93Deafness, autosomal recessive 84B,614944
OTX2119.310.98Microphthalmia, syndromic 5610125
OTX2119.310.98Pituitary hormone deficiency, combined, 6613986
OTX2119.310.98Retinal dystrophy, early-onset, with or without pituitary dysfunction,610125
OVOL2105.310.97Corneal dystrophy, posterior polymorphous, 1122000
OXCT110610.96Succinyl CoA:3-oxoacid CoA transferase deficiency,245050
P2RX1104.90.990.97Bleeding disorder due to P2RX1 defect, somatic,609821
P2RX2108.610.97Deafness, autosomal dominant 41608224
P2RY12187.511Bleeding disorder, platelet-type, 8609821
P4HB102.10.940.94Cole-Carpenter syndrome 1112240
PABPN170.40.650.58Oculopharyngeal muscular dystrophy,164300
PACS1102.20.970.95Schuss-Hoeijmakers-syndrome,615009
PAFAH1B193.50.880.78Lissencephaly 1607432
PAFAH1B193.50.880.78Subcortical laminar heterotopia,607432
PAH153.311Phenylketonuria,261600
PAH153.311[Hyperphenylalaninemia, non-PKU mild],261600
PAK3104.50.970.92Mental retardation, X-linked 30/47,300558
PALB2149.211Fanconi anemia, complementation group N,610832
PALB2149.211{Breast cancer, susceptibility to},114480
PALB2149.211{Pancreatic cancer, susceptibility to, 3},613348
PAM1643.80.650.64Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type,613320
PANK2147.70.980.93HARP syndrome,607236
PANK2147.70.980.93Neurodegeneration with brain iron accumulation 1234200
PAPSS286.810.98Brachyolmia 4 with mild epiphyseal and metaphyseal changes,612847
PARK2109.511Adenocarcinoma of lung, somatic,211980
PARK2109.511Adenocarcinoma, ovarian, somatic,167000
PARK2109.511Parkinson disease, juvenile, type 2600116
PARK2109.511{Leprosy, susceptibility to},607572
PARK774.210.97Parkinson disease 7,autosomal recessive early-onset,606324
PARN114.710.96Dyskeratosis congenita, autosomal recessive 6616353
PARN114.710.96Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4616371
PAX2149.311Glomerulosclerosis, focal segmental, 7616002
PAX2149.311Papillorenal syndrome,120330
PAX3100.810.99Craniofacial-deafness-hand syndrome,122880
PAX3100.810.99Rhabdomyosarcoma 2 alveolar,268220
PAX3100.810.99Waardenburg syndrome, type 1193500
PAX3100.810.99Waardenburg syndrome, type 3148820
PAX483.310.98Diabetes mellitus, type 2125853
PAX483.310.98Maturity-onset diabetes of the young, type IX,612225
PAX483.310.98{Diabetes mellitus, ketosis-prone, susceptibility to},612227
PAX6123.511Aniridia,106210
PAX6123.511Cataract with late-onset corneal dystrophy,106210
PAX6123.511Coloboma of optic nerve,120430
PAX6123.511Coloboma, ocular,120200
PAX6123.511Foveal hypoplasia 1136520
PAX6123.511Keratitis,148190
PAX6123.511Optic nerve hypoplasia,165550
PAX6123.511Peters anomaly,604229
PAX6123.511?Morning glory disc anomaly,120430
PAX793.810.99Rhabdomyosarcoma 2 alveolar,268220
PAX889.510.99Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia,218700
PAX9201.10.990.95Tooth agenesis, selective, 3604625
PC1260.970.93Pyruvate carboxylase deficiency,266150
PCBD199.40.990.99Hyperphenylalaninemia, BH4-deficient, D,264070
PCCA91.10.950.88Propionicacidemia,606054
PCCB124.70.960.94Propionicacidemia,606054
PCDH15146.80.990.99Deafness, autosomal recessive 23609533
PCDH15146.80.990.99Usher syndrome, type 1D/F digenic,601067
PCDH15146.80.990.99Usher syndrome, type 1F,602083
PCDH1921511Epileptic encephalopathy, early infantile, 9300088
PCNT99.70.970.94Microcephalic osteodysplastic primordial dwarfism, type II,210720
PCSK1130.710.98Obesity with impaired prohormone processing,600955
PCSK1130.710.98{Obesity, susceptibility to, BMIQ12},612362
PCSK9870.930.91Hypercholesterolemia, familial, 3603776
PCSK9870.930.91{Low density lipoprotein cholesterol level QTL 1},603776
PCYT1A92.90.990.95Spondylometaphyseal dysplasia with cone-rod dystrophy,608940
PDCD1077.70.980.74Cerebral cavernous malformations 3603285
PDE10A133.510.99Dyskinesia,limb and orofacial,infantile-onset,616921
PDE10A133.510.99Striatal degeneration,autosomal dominant,616922
PDE11A138.711Pigmented nodular adrenocortical disease, primary, 2610475
PDE3A1040.990.98Hypertension and brachydactyly syndrome,112410
PDE4D1010.980.94Acrodysostosis 2 with or without hormone resistance,614613
PDE4D1010.980.94{Stroke, susceptibility to, 1},606799
PDE6A104.911Retinitis pigmentosa 43613810
PDE6B133.611Night blindness, congenital stationary, autosomal dominant 2163500
PDE6B133.611Retinitis pigmentosa-40,613801
PDE6C124.10.970.96Cone dystrophy 4613093
PDE6G77.30.960.92Retinitis pigmentosa 57613582
PDE6H51.20.740.48Achromatopsia 6610024
PDE6H51.20.740.48Retinal cone dystrophy 3610024
PDE8B99.410.99Pigmented nodular adrenocortical disease, primary, 3614190
PDE8B99.410.99Striatal degeneration, autosomal dominant,609161
PDGFB90.811Basal ganglia calcification, idiopathic, 5615483
PDGFB90.811Dermatofibrosarcoma protuberans,607907
PDGFB90.811Meningioma, SIS-related,607174
PDGFRA135.810.99Gastrointestinal stromal tumor, somatic,606764
PDGFRA135.810.99Hypereosinophilic syndrome, idiopathic, resistant to imatinib,607685
PDGFRB131.10.980.95Basal ganglia calcification, idiopathic, 4615007
PDGFRB131.10.980.95Kosaki overgrowth syndrome,616592
PDGFRB131.10.980.95Myeloproliferative disorder with eosinophilia,131440
PDGFRB131.10.980.95Myofibromatosis, infantile, 1228550
PDGFRB131.10.980.95Premature aging syndrome, Penttinen type,601812
PDGFRL122.310.98Colorectal cancer, somatic,114500
PDGFRL122.310.98Hepatocellular cancer, somatic,114550
PDHA1125.50.990.92Pyruvate dehydrogenase E1-alpha deficiency,312170
PDHB118.60.970.94Pyruvate dehydrogenase E1-beta deficiency,614111
PDHX1120.970.95Lacticacidemia due to PDX1 deficiency,245349
PDP1148.811Pyruvate dehydrogenase phosphatase deficiency,608782
PDSS1104.50.890.82Coenzyme Q10 deficiency, primary, 2614651
PDSS299.70.940.94Coenzyme Q10 deficiency, primary, 3614652
PDX120.50.690.46MODY, type IV,606392
PDX120.50.690.46Pancreatic agenesis 1260370
PDX120.50.690.46{Diabetes mellitus, type II, susceptibility to},125853
PDYN10011Spinocerebellar ataxia 23610245
PDZD784.810.97Usher syndrome, type IIC, GPR98/PDZD7 digenic,605472
PDZD784.810.97{Retinal disease in Usher syndrome type IIA, modifier of},276901
PEPD99.111Prolidase deficiency,170100
PER28810.99Advanced sleep phase syndrome, familial, 1604348
PET1001140.840.72Mitochondrial complex IV deficiency,220110
PEX11010.980.97Heimler syndrome 1234580
PEX11010.980.97Peroxisome biogenesis disorder 1A (Zellweger),214100
PEX11010.980.97Peroxisome biogenesis disorder 1B (NALD/IRD),601539
PEX1099.10.960.9Peroxisome biogenesis disorder 6A (Zellweger),614870
PEX1099.10.960.9Peroxisome biogenesis disorder 6B,614871
PEX11B9411Peroxisome biogenesis disorder 14B,614920
PEX12113.80.990.98Peroxisome biogenesis disorder 3A (Zellweger),614859
PEX12113.80.990.98Peroxisome biogenesis disorder 3B,266510
PEX13172.40.980.95Peroxisome biogenesis disorder 11A (Zellweger),614883
PEX13172.40.980.95Peroxisome biogenesis disorder 11B,614885
PEX141160.990.96Peroxisome biogenesis disorder 13A (Zellweger),614887
PEX16112.60.990.93Peroxisome biogenesis disorder 8A, (Zellweger),614876
PEX16112.60.990.93Peroxisome biogenesis disorder 8B,614877
PEX1998.210.99Peroxisome biogenesis disorder 12A (Zellweger),614886
PEX2134.911Peroxisome biogenesis disorder 5A (Zellweger),614866
PEX2134.911Peroxisome biogenesis disorder 5B,614867
PEX2663.510.98Peroxisome biogenesis disorder 7A (Zellweger),614872
PEX2663.510.98Peroxisome biogenesis disorder 7B,614873
PEX383.40.950.92Peroxisome biogenesis disorder 10A (Zellweger),614882
PEX592.310.96Peroxisome biogenesis disorder 2A (Zellweger),214110
PEX592.310.96Peroxisome biogenesis disorder 2B,202370
PEX592.310.96Rhizomelic chondrodysplasia punctata, type 5616716
PEX668.50.90.81Heimler syndrome 2616617
PEX668.50.90.81Peroxisome biogenesis disorder 4A (Zellweger),614862
PEX668.50.90.81Peroxisome biogenesis disorder 4B,614863
PEX7114.50.890.84Peroxisome biogenesis disorder 9B,614879
PEX7114.50.890.84Rhizomelic chondrodysplasia punctata, type 1215100
PFKM140.310.99Glycogen storage disease VII,232800
PFN1139.111Amyotrophic lateral sclerosis 18614808
PGAM2122.811Glycogen storage disease X,261670
PGAP190.90.910.88Mental retardation, autosomal recessive 42615802
PGAP2134.110.99Hyperphosphatasia with mental retardation syndrome 3614207
PGAP3109.30.960.92Hyperphosphatasia with mental retardation syndrome 4615716
PGK160.90.90.84Phosphoglycerate kinase 1 deficiency,300653
PGM1119.611Congenital disorder of glycosylation, type It,614921
PGM317111Immunodeficiency 23615816
PHEX153.10.980.96Hypophosphatemic rickets, X-linked dominant,307800
PHF679.40.910.91Borjeson-Forssman-Lehmann syndrome,301900
PHF8112.210.99Mental retardation syndrome, X-linked, Siderius type,300263
PHGDH105.910.99Neu-Laxova syndrome 1256520
PHGDH105.910.99Phosphoglycerate dehydrogenase deficiency,601815
PHKA1134.70.990.97Muscle glycogenosis,300559
PHKA2130.211Glycogen storage disease, type IXa1,306000
PHKA2130.211Glycogen storage disease, type IXa2,306000
PHKB12611Phosphorylase kinase deficiency of liver and muscle, autosomal recessive,261750
PHKG2132.311Cirrhosis due to liver phosphorylase kinase deficiency261750
PHKG2132.311Glycogen storage disease IXc,613027
PHOX2A33.90.490.22Fibrosis of extraocular muscles, congenital, 2602078
PHOX2B94.30.930.87Central hypoventilation syndrome, congenital, with or without Hirschsprung disease,209880
PHOX2B94.30.930.87Neuroblastoma with Hirschsprung disease,613013
PHOX2B94.30.930.87{Neuroblastoma, susceptibility to, 2},613013
PHYH63.60.970.88Refsum disease,266500
PI4KA99.20.910.83Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis,616531
PICALM99.710.93Leukemia, acute myeloid, somatic,601626
PIEZO1128.60.990.97Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema,601626
PIEZO1128.60.990.97Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema,194380
PIEZO1128.60.990.97Lymphedema, hereditary, III,616843
PIEZO2112.20.990.98Arthrogryposis, distal, type 3114300
PIEZO2112.20.990.98Arthrogryposis, distal, type 5108145
PIEZO2112.20.990.98?Marden-Walker syndrome,248700
PIGA1040.980.87Multiple congenital anomalies-hypotonia-seizures syndrome 2300868
PIGA1040.980.87Paroxysmal nocturnal hemoglobinuria, somatic,300818
PIGG151.510.96Mental retardation,autosomal recessive 53,616917
PIGL111.811CHIME syndrome,280000
PIGM128.611Glycosylphosphatidylinositol deficiency,610293
PIGN104.40.950.86Multiple congenital anomalies-hypotonia-seizures syndrome 1614080
PIGO103.310.99Hyperphosphatasia with mental retardation syndrome 2614749
PIGT127.610.97Multiple congenital anomalies-hypotonia-seizures syndrome 3615398
PIGT127.610.97?Paroxysmal nocturnal hemoglobinuria 2615399
PIGV144.411Hyperphosphatasia with mental retardation syndrome 1239300
PIGY86.210.99Hyperphosphatasia with mental retardation syndrome 6616809
PIK3CA109.90.990.97Breast cancer, somatic,114480
PIK3CA109.90.990.97CLOVE syndrome, somatic,612918
PIK3CA109.90.990.97Colorectal cancer, somatic,114500
PIK3CA109.90.990.97Cowden syndrome 5615108
PIK3CA109.90.990.97Gastric cancer, somatic,613659
PIK3CA109.90.990.97Hepatocellular carcinoma, somatic,114550
PIK3CA109.90.990.97Keratosis, seborrheic, somatic,182000
PIK3CA109.90.990.97Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic,602501
PIK3CA109.90.990.97Nevus, epidermal, somatic,162900
PIK3CA109.90.990.97Nonsmall cell lung cancer, somatic,211980
PIK3CA109.90.990.97Ovarian cancer, somatic,167000
PIK3CD112.70.980.95Immunodeficiency 14615513
PIK3R1120.610.97Immunodeficiency 36616005
PIK3R1120.610.97SHORT syndrome,269880
PIK3R1120.610.97?Agammaglobulinemia 7 autosomal recessive,615214
PIK3R280.10.880.86Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387
PIK3R599.60.990.98Ataxia-oculomotor apraxia 3615217
PIKFYVE128.30.990.93Corneal fleck dystrophy,121850
PINK186.30.930.89Parkinson disease 6 early onset,605909
PIP5K1C1060.970.93Lethal congenital contractural syndrome 3611369
PITPNM3930.980.95Cone-rod dystrophy 5600977
PITX1122.90.920.88Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly,119800
PITX1122.90.920.88Liebenberg syndrome,186550
PITX2122.40.980.95Axenfeld-Rieger syndrome, type 1180500
PITX2122.40.980.95Iridogoniodysgenesis, type 2137600
PITX2122.40.980.95Peters anomaly,604229
PITX2122.40.980.95Ring dermoid of cornea,180550
PITX351.910.95Anterior segment mesenchymal dysgenesis,107250
PITX351.910.95Cataract 11 multiple types,610623
PITX351.910.95Cataract 11 syndromic,610623
PKD122.70.40.29Polycystic kidney disease, adult type I,173900
PKD296.70.90.86Polycystic kidney disease 2613095
PKHD1138.410.99Polycystic kidney and hepatic disease,263200
PKLR14210.99Adenosine triphosphate, elevated, of erythrocytes,102900
PKLR14210.99Pyruvate kinase deficiency,266200
PKP1107.510.98Ectodermal dysplasia/skin fragility syndrome,604536
PKP288.10.960.89Arrhythmogenic right ventricular dysplasia 9609040
PLA2G4A125.310.99Phospholipase A2, group IV A, deficiency of,600522
PLA2G699.60.990.97Infantile neuroaxonal dystrophy 1256600
PLA2G699.60.990.97Neurodegeneration with brain iron accumulation 2B,610217
PLA2G699.60.990.97Parkinson disease 14 autosomal recessive,612953
PLA2G7121.110.96Platelet-activating factor acetylhydrolase deficiency,614278
PLA2G7121.110.96{Asthma, susceptibility to},600807
PLA2G7121.110.96{Atopy, susceptibility to},147050
PLAG1194.811Adenomas, salivary gland pleomorphic, somatic,181030
PLAU102.610.95Quebec platelet disorder,601709
PLAU102.610.95{Alzheimer disease, late-onset, susceptibility to},104300
PLCB1138.510.99Epileptic encephalopathy, early infantile, 12613722
PLCB4123.40.990.93Auriculocondylar syndrome 2614669
PLCD1103.20.990.95Nail disorder, nonsyndromic congenital, 3 (leukonychia),151600
PLCE11340.990.98Nephrotic syndrome, type 3610725
PLCG21020.990.98Autoinflammation, antibody deficiency, and immune dysregulation syndrome,614878
PLCG21020.990.98Familial cold autoinflammatory syndrome 3614468
PLEC92.80.990.98Epidermolysis bullosa simplex with muscular dystrophy,226670
PLEC92.80.990.98Epidermolysis bullosa simplex with pyloric atresia,612138
PLEC92.80.990.98Epidermolysis bullosa simplex, Ogna type,131950
PLEC92.80.990.98Muscular dystrophy, limb-girdle, type 2Q,613723
PLEC92.80.990.98?Epidermolysis bullosa simplex with nail dystrophy,616487
PLEKHG2105.710.99Leukodystrophy and acquired microcephaly with or without dystonia,616763
PLEKHG5770.930.86Charcot-Marie-Tooth disease, recessive intermediate C,615376
PLEKHG5770.930.86Spinal muscular atrophy, distal, autosomal recessive, 4611067
PLEKHM15110.94Osteopetrosis, autosomal recessive 6611497
PLG102.80.870.85Dysplasminogenemia,217090
PLG102.80.870.85Plasminogen deficiency, type I,217090
PLIN174.60.970.84Lipodystrophy, familial partial, type 4613877
PLK41310.980.95Microcephaly and chorioretinopathy, autosomal recessive, 2616171
PLN188.811Cardiomyopathy, dilated, 1P,609909
PLN188.811Cardiomyopathy, hypertrophic, 18613874
PLOD11190.990.97Ehlers-Danlos syndrome, type VI,225400
PLOD2102.50.980.9Bruck syndrome 2609220
PLOD3101.810.99Lysyl hydroxylase 3 deficiency,612394
PLP1160.911Pelizaeus-Merzbacher disease,312080
PLP1160.911Spastic paraplegia 2 X-linked,312920
PLS3181.211Bone mineral density QTL18, osteoporosis,300910
PML96.410.99Leukemia, acute promyelocytic, PML/RARA type300910
PMM2153.511Congenital disorder of glycosylation, type Ia,212065
PMP2291.60.90.88Charcot-Marie-Tooth disease, type 1A,118220
PMP2291.60.90.88Charcot-Marie-Tooth disease, type 1E,118300
PMP2291.60.90.88Dejerine-Sottas disease,145900
PMP2291.60.90.88Neuropathy, inflammatory demyelinating,139393
PMP2291.60.90.88Neuropathy, recurrent, with pressure palsies,162500
PMP2291.60.90.88Roussy-Levy syndrome,180800
PMPCA111.30.940.91Spinocerebellar ataxia, autosomal recessive 2213200
PMS276.80.830.81Colorectal cancer, hereditary nonpolyposis, type 4614337
PMS276.80.830.81Mismatch repair cancer syndrome,276300
PMVK104.610.96Porokeratosis 1 multiple types,175800
PNKD90.210.96Paroxysmal nonkinesigenic dyskinesia,118800
PNKP8110.96Ataxia-oculomotor apraxia 4616267
PNKP8110.96Microcephaly, seizures, and developmental delay,613402
PNP122.811Immunodeficiency due to purine nucleoside phosphorylase deficiency,613179
PNPLA1146.10.990.98Ichthyosis, congenital, autosomal recessive 10615024
PNPLA2101.310.96Neutral lipid storage disease with myopathy,610717
PNPLA6112.60.990.98Boucher-Neuhauser syndrome,215470
PNPLA6112.60.990.98Oliver-McFarlane syndrome,275400
PNPLA6112.60.990.98Spastic paraplegia 39 autosomal recessive,612020
PNPLA6112.60.990.98?Laurence-Moon syndrome,245800
PNPO6310.96Pyridoxamine 5'-phosphate oxidase deficiency,610090
PNPT146.40.930.81Combined oxidative phosphorylation deficiency 13614932
PNPT146.40.930.81Deafness, autosomal recessive 70614934
POC1A112.911Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis,614813
POC1B81.20.960.91Cone-rod dystrophy 20615973
POF1B100.90.930.88Premature ovarian failure 2B,300604
POFUT1118.611Dowling-Degos disease 2615327
POGLUT1121.510.91Dowling-Degos disease 4615696
POGZ141.20.990.97White-Sutton syndrome,616364
POLA1147.910.98Pigmentary disorder, reticulate, with systemic manifestations, X-linked,301220
POLD188.80.950.9Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome,615381
POLD188.80.950.9{Colorectal cancer, susceptibility to, 10},612591
POLE1290.990.98FILS syndrome,615139
POLE1290.990.98{Colorectal cancer, susceptibility to, 12},615083
POLG100.711Mitochondrial DNA depletion syndrome 4A (Alpers type),203700
POLG100.711Mitochondrial DNA depletion syndrome 4B (MNGIE type),613662
POLG100.711Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE),607459
POLG100.711Progressive external ophthalmoplegia, autosomal dominant 1157640
POLG100.711Progressive external ophthalmoplegia, autosomal recessive 1258450
POLG21430.990.97Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4610131
POLH135.110.98Xeroderma pigmentosum, variant type,278750
POLR1A1080.990.97Acrofacial dysostosis, Cincinnati type,616462
POLR1C108.20.990.95Leukodystrophy, hypomyelinating, 11616494
POLR1C108.20.990.95Treacher Collins syndrome 3248390
POLR1D162.211Treacher Collins syndrome 2613717
POLR3A12610.99Leukodystrophy, hypomyelinating, 7 with or without oligodontia and/or hypogonadotropic613717
POLR3A12610.99hypogonadism,607694
POLR3B135.810.97Leukodystrophy, hypomyelinating, 8 with or without oligodontia and/or hypogonadotropic607694
POLR3B135.810.97hypogonadism,614381
POMC84.611Obesity, adrenal insufficiency, and red hair due to POMC deficiency,609734
POMC84.611{Obesity, early-onset, susceptibility to},601665
POMGNT1100.30.980.92Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3253280
POMGNT1100.30.980.92Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3613151
POMGNT1100.30.980.92Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3613157
POMGNT2216.411Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8614830
POMK163.311Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12615249
POMK163.311?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12616094
POMP118.10.860.85Keratosis linearis with ichthyosis congenita and sclerosing keratoderma,601952
POMT1143.70.980.95Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1236670
POMT1143.70.980.95Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1613155
POMT1143.70.980.95Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1609308
POMT296.30.970.95Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2613150
POMT296.30.970.95Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2613156
POMT296.30.970.95Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2613158
POR126.911Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis,201750
POR126.911Disordered steroidogenesis due to cytochrome P450 oxidoreductase,613571
PORCN142.711Focal dermal hypoplasia,305600
POU1F1107.30.990.9Pituitary hormone deficiency, combined, 1613038
POU3F4141.111Deafness, X-linked 2304400
POU4F3204.911Deafness, autosomal dominant 15602459
PPARG132.111Carotid intimal medial thickness 1609338
PPARG132.111Insulin resistance, severe, digenic,604367
PPARG132.111Lipodystrophy, familial partial, type 3604367
PPARG132.111Obesity, severe,601665
PPARG132.111[Obesity, resistance to]601665
PPARG132.111{Diabetes, type 2},125853
PPIB10211Osteogenesis imperfecta, type IX,259440
PPM1D133.210.97Breast cancer,114480
PPOX89.50.980.96Porphyria variegata,176200
PPP1R15B120.50.990.97Microcephaly, short stature, and impaired glucose metabolism 2616817
PPP1R3A135.70.990.97Insulin resistance, severe, digenic,604367
PPP2R1A119.70.930.91Mental retardation, autosomal dominant 36616362
PPP2R1B15211Lung cancer,211980
PPP2R2B136.110.99Spinocerebellar ataxia 12604326
PPP2R5D129.811Mental retardation, autosomal dominant 35616355
PPT1153.911Ceroid lipofuscinosis, neuronal, 1256730
PQBP1181.60.970.97Renpenning syndrome,309500
PRCC108.60.980.9Renal cell carcinoma, papillary,605074
PRCD86.511Retinitis pigmentosa 36610599
PRDM1292.40.880.8Neuropathy, hereditary sensory and autonomic, type VIII,616488
PRDM16136.90.990.98Cardiomyopathy, dilated, 1LL,615373
PRDM16136.90.990.98Left ventricular noncompaction 8615373
PRDM5113.60.970.91Brittle cornea syndrome 2614170
PRDM678.40.810.73Patent ductus arteriosus 3617039
PRF1102.510.98Aplastic anemia,609135
PRF1102.510.98Hemophagocytic lymphohistiocytosis, familial, 2603553
PRF1102.510.98Lymphoma, non-Hodgkin,605027
PRG4123.90.950.83Camptodactyly-arthropathy-coxa vara-pericarditis syndrome,208250
PRICKLE1109.811Epilepsy, progressive myoclonic 1B,612437
PRIMPOL98.10.940.9Myopia 22,autosomal dominant,615420
PRKAG2122.60.970.86Cardiomyopathy, hypertrophic 6600858
PRKAG2122.60.970.86Glycogen storage disease of heart, lethal congenital,261740
PRKAG2122.60.970.86Wolff-Parkinson-White syndrome,194200
PRKAR1A82.310.91Acrodysostosis 1 with or without hormone resistance,101800
PRKAR1A82.310.91Adrenocortical tumor, somatic,101800
PRKAR1A82.310.91Carney complex, type 1160980
PRKAR1A82.310.91Myxoma, intracardiac,255960
PRKAR1A82.310.91Pigmented nodular adrenocortical disease, primary, 1610489
PRKCA153.311Pituitary tumor, invasive610489
PRKCD164.211Autoimmune lymphoproliferative syndrome, type III,615559
PRKCG101.60.970.92Spinocerebellar ataxia 14605361
PRKCSH113.80.990.87Polycystic liver disease,174050
PRKDC94.70.970.92Immunodeficiency 26 with or without neurologic abnormalities,615966
PRKG1105.80.990.86Aortic aneurysm, familial thoracic 8615436
PRKRA127.610.99Dystonia 16612067
PRLR130.511Multiple fibroadenomas of the breast,615554
PRLR130.511?Hyperprolactinemia,615555
PRNP140.111Cerebral amyloid angiopathy, PRNP-related,137440
PRNP140.111Creutzfeldt-Jakob disease,123400
PRNP140.111Gerstmann-Straussler disease,137440
PRNP140.111Huntington disease-like 1603218
PRNP140.111Insomnia, fatal familial,600072
PRNP140.111Prion disease with protracted course,606688
PRNP140.111{Kuru, susceptibility to},245300
PROC111.40.990.94Thrombophilia due to protein C deficiency, autosomal dominant,176860
PROC111.40.990.94Thrombophilia due to protein C deficiency, autosomal recessive,612304
PRODH102.30.840.82Hyperprolinemia, type I,239500
PRODH102.30.840.82{Schizophrenia, susceptibility to, 4},600850
PROK274.90.970.89Hypogonadotropic hypogonadism 4 with or without anosmia,610628
PROKR2284.611Hypogonadotropic hypogonadism 3 with or without anosmia,244200
PROM1111.10.960.92Cone-rod dystrophy 12612657
PROM1111.10.960.92Macular dystrophy, retinal, 2608051
PROM1111.10.960.92Retinitis pigmentosa 41612095
PROM1111.10.960.92Stargardt disease 4603786
PROP192.50.910.87Pituitary hormone deficiency, combined, 2262600
PROS168.40.960.91Thrombophilia due to protein S deficiency, autosomal dominant,612336
PROS168.40.960.91Thrombophilia due to protein S deficiency, autosomal recessive,614514
PRPF374.70.970.92Retinitis pigmentosa 18601414
PRPF3199.210.94Retinitis pigmentosa 11600138
PRPF4137.210.97Retinitis pigmentosa 70615922
PRPF6114.311Retinitis pigmentosa 60613983
PRPF8121.50.990.97Retinitis pigmentosa 13600059
PRPH2202.711Choriodal dystrophy, central areolar 2613105
PRPH2202.711Leber congenital amaurosis 18608133
PRPH2202.711Macular dystrophy, patterned, 1169150
PRPH2202.711Macular dystrophy, vitelliform, 3608161
PRPH2202.711Retinitis pigmentosa 7 and digenic,608133
PRPH2202.711Retinitis punctata albescens,136880
PRPS1200.611Arts syndrome,301835
PRPS1200.611Charcot-Marie-Tooth disease, X-linked recessive, 5311070
PRPS1200.611Deafness, X-linked 1304500
PRPS1200.611Gout, PRPS-related,300661
PRPS1200.611Phosphoribosylpyrophosphate synthetase superactivity,300661
PRRT266.30.970.96Convulsions, familial infantile, with paroxysmal choreoathetosis,602066
PRRT266.30.970.96Episodic kinesigenic dyskinesia 1128200
PRRT266.30.970.96Seizures, benign familial infantile, 2605751
PRRX175.611Agnathia-otocephaly complex,202650
PRSS1166.111Pancreatitis, hereditary,167800
PRSS1166.111Trypsinogen deficiency,614044
PRSS12122.20.990.96Mental retardation, autosomal recessive 1249500
PRSS5645.70.920.81Microphthalmia, isolated 6613517
PRX86.410.99Charcot-Marie-Tooth disease, type 4F,614895
PRX86.410.99Dejerine-Sottas disease,145900
PSAP96.80.990.95Combined SAP deficiency,611721
PSAP96.80.990.95Gaucher disease, atypical,610539
PSAP96.80.990.95Krabbe disease, atypical,611722
PSAP96.80.990.95Metachromatic leukodystrophy due to SAP-b deficiency,249900
PSAT140.70.80.7Neu-Laxova syndrome 2616038
PSAT140.70.80.7?Phosphoserine aminotransferase deficiency,610992
PSEN1129.310.99Acne inversa, familial, 3613737
PSEN1129.310.99Alzheimer disease, type 3607822
PSEN1129.310.99Alzheimer disease, type 3 with spastic paraparesis and apraxia,607822
PSEN1129.310.99Alzheimer disease, type 3 with spastic paraparesis and unusual plaques,607822
PSEN1129.310.99Cardiomyopathy, dilated, 1U,613694
PSEN1129.310.99Dementia, frontotemporal,600274
PSEN1129.310.99Pick disease,172700
PSEN2114.111Alzheimer disease-4,606889
PSEN2114.111Cardiomyopathy, dilated, 1V,613697
PSENEN60.711Acne inversa, familial, 2613736
PSMB815.10.450.32Autoinflammation, lipodystrophy, and dermatosis syndrome,256040
PSMC3IP98.410.94Ovarian dysgenesis 3614324
PSPH10910.96Phosphoserine phosphatase deficiency,614023
PSTPIP178.410.91Pyogenic sterile arthritis, pyoderma gangrenosum, and acne,604416
PTCH1109.50.980.95Basal cell carcinoma, somatic,605462
PTCH1109.50.980.95Basal cell nevus syndrome,109400
PTCH1109.50.980.95Holoprosencephaly-7,610828
PTCH295.50.980.95Basal cell carcinoma, somatic,605462
PTCH295.50.980.95Basal cell nevus syndrome,109400
PTCH295.50.980.95Medulloblastoma,155255
PTDSS1121.711Lenz-Majewski hyperostotic dwarfism,151050
PTEN120.710.99Bannayan-Riley-Ruvalcaba syndrome,153480
PTEN120.710.99Cowden syndrome 1158350
PTEN120.710.99Endometrial carcinoma, somatic,608089
PTEN120.710.99Lhermitte-Duclos syndrome,158350
PTEN120.710.99Macrocephaly/autism syndrome,605309
PTEN120.710.99Malignant melanoma, somatic,155600
PTEN120.710.99PTEN hamartoma tumor syndrome155600
PTEN120.710.99Squamous cell carcinoma, head and neck, somatic,275355
PTEN120.710.99VATER association with macrocephaly and ventriculomegaly,276950
PTEN120.710.99{Glioma susceptibility 2},613028
PTEN120.710.99{Meningioma},607174
PTEN120.710.99{Prostate cancer, somatic},176807
PTF1A67.30.830.74Pancreatic agenesis 2615935
PTF1A67.30.830.74Pancreatic and cerebellar agenesis,609069
PTGIS104.90.970.95Hypertension, essential,145500
PTH105.610.99Hypoparathyroidism, autosomal dominant,146200
PTH105.610.99Hypoparathyroidism, autosomal recessive,146200
PTH1R87.20.990.98Chondrodysplasia, Blomstrand type,215045
PTH1R87.20.990.98Eiken syndrome,600002
PTH1R87.20.990.98Failure of tooth eruption, primary,125350
PTH1R87.20.990.98Metaphyseal chondrodysplasia, Murk Jansen type,156400
PTHLH117.910.82Brachydactyly, type E2,613382
PTHLH117.910.82Humoral hypercalcemia of malignancy613382
PTPN1174.90.960.86LEOPARD syndrome 1151100
PTPN1174.90.960.86Leukemia, juvenile myelomonocytic, somatic,607785
PTPN1174.90.960.86Metachondromatosis,156250
PTPN1174.90.960.86Noonan syndrome 1163950
PTPN12122.50.950.9Colon cancer, somatic,114500
PTPN14158.20.980.97Choanal atresia and lymphedema,613611
PTPRC91.60.890.8Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive,608971
PTPRC91.60.890.8{Hepatitic C virus, susceptibility to},609532
PTPRJ150.70.960.95Colon cancer, somatic,114500
PTPRO1370.990.98Nephrotic syndrome, type 6614196
PTPRQ98.60.90.87Deafness, autosomal recessive 84A,613391
PTRF107.410.98Lipodystrophy, congenital generalized, type 4613327
PTRH2237.111Infantile-onset multisystem neurologic, endocrine, and pancreatic disease,616263
PTS94.20.940.83Hyperphenylalaninemia, BH4-deficient, A,261640
PUF60142.810.96Verheij syndrome,615583
PURA117.210.91Mental retardation, autosomal dominant 31616158
PUS112610.95Myopathy, lactic acidosis, and sideroblastic anemia 1600462
PVRL1130.811Cleft lip/palate-ectodermal dysplasia syndrome,225060
PVRL1130.811Orofacial cleft 7225060
PVRL4118.810.98Ectodermal dysplasia-syndactyly syndrome 1613573
PXDN1430.990.98Corneal opacification and other ocular anomalies,269400
PYCR182.70.970.95Cutis laxa, autosomal recessive, type IIB,612940
PYCR182.70.970.95Cutis laxa, autosomal recessive, type IIIB,614438
PYCR2113.810.95Leukodystrophy, hypomyelinating, 10616420
PYGL148.111Glycogen storage disease VI,232700
PYGM123.610.99McArdle disease,232600
QARS128.610.99Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy,615760
QDPR65.911Hyperphenylalaninemia, BH4-deficient, C,261630
RAB1881.20.990.78Warburg micro syndrome 3614222
RAB23105.210.99Carpenter syndrome,201000
RAB27A137.711Griscelli syndrome, type 2607624
RAB2849.90.990.85Cone-rod dystrophy 18615374
RAB33B20611Smith-McCort dysplasia 2615222
RAB39B144.111Mental retardation, X-linked 72300271
RAB39B144.111?Waisman syndrome,311510
RAB3GAP1112.30.990.96Warburg micro syndrome 1600118
RAB3GAP284.50.970.91Martsolf syndrome,212720
RAB3GAP284.50.970.91Warburg micro syndrome 2614225
RAB7A135.911Charcot-Marie-Tooth disease,type 2B,600882
RAC2106.411Neutrophil immunodeficiency syndrome,608203
RAD2184.40.990.94Cornelia de Lange syndrome 4614701
RAD5088.50.930.88Nijmegen breakage syndrome-like disorder,613078
RAD51122.70.890.89Mirror movements 2614508
RAD51122.70.890.89{Breast cancer, susceptibility to},114480
RAD51C121.911Fanconi anemia, complementation group O,613390
RAD51C121.911{Breast-ovarian cancer, familial, susceptibility to, 3},613399
RAD54B87.90.950.85Colon cancer, somatic,114500
RAD54B87.90.950.85Lymphoma, non-Hodgkin, somatic,605027
RAD54L97.90.990.97Adenocarcinoma, colonic, somatic605027
RAD54L97.90.990.97Lymphoma, non-Hodgkin, somatic,605027
RAD54L97.90.990.97{Breast cancer, invasive ductal},114480
RAF1105.411Cardiomyopathy, dilated, 1NN,615916
RAF1105.411LEOPARD syndrome 2611554
RAF1105.411Noonan syndrome 5611553
RAG1183.411Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and611553
RAG1183.411autoimmunity,609889
RAG1183.411Combined cellular and humoral immune defects with granulomas,233650
RAG1183.411Omenn syndrome,603554
RAG1183.411Severe combined immunodeficiency, B cell-negative,601457
RAG2214.711Combined cellular and humoral immune defects with granulomas,233650
RAG2214.711Omenn syndrome,603554
RAG2214.711Severe combined immunodeficiency, B cell-negative,601457
RAI11110.990.99Smith-Magenis syndrome,182290
RAP1GDS181.50.980.86Lymphocytic leukemia, acute T-cell182290
RAPSN105.80.930.93Fetal akinesia deformation sequence,208150
RAPSN105.80.930.93Myasthenic syndrome, congenital, 11 associated with acetylcholine receptor deficiency,616326
RARB118.711Microphthalmia, syndromic 12615524
RARS76.70.980.92Leukodystrophy, hypomyelinating, 9616140
RARS2100.20.990.96Pontocerebellar hypoplasia, type 6611523
RASA188.70.930.79Basal cell carcinoma, somatic,605462
RASA188.70.930.79Capillary malformation-arteriovenous malformation,608354
RASA188.70.930.79Parkes Weber syndrome,608355
RAX73.40.910.81Microphthalmia, isolated 3611038
RAX251.90.990.78Macular degeneration, age-related, 6613757
RAX251.90.990.78?Cone-rod dystrophy 11610381
RB175.20.90.75Bladder cancer, somatic,109800
RB175.20.90.75Osteosarcoma, somatic,259500
RB175.20.90.75Retinoblastoma,180200
RB175.20.90.75Retinoblastoma, trilateral,180200
RB175.20.90.75Small cell cancer of the lung, somatic,182280
RB1CC1104.70.940.87Breast cancer, somatic,114480
RBBP895.80.990.94Jawad syndrome,251255
RBBP895.80.990.94Pancreatic carcinoma, somatic251255
RBBP895.80.990.94Seckel syndrome 2606744
RBCK192.40.980.94Polyglucosan body myopathy 1 with or without immunodeficiency,615895
RBM10122.110.99TARP syndrome,311900
RBM20154.30.990.95Cardiomyopathy, dilated, 1DD,613172
RBM8A100.810.95Thrombocytopenia-absent radius syndrome,274000
RBP493.10.930.89Microphthalmia, isolated, with coloboma 10616428
RBP493.10.930.89Retinal dystrophy, iris coloboma, and comedogenic acne syndrome,615147
RBPJ67.20.870.76Adams-Oliver syndrome 3614814
RD314211Leber congenital amaurosis 12610612
RDH1278.50.970.91Leber congenital amaurosis 13612712
RDH5148.711Fundus albipunctatus,136880
RDX35.30.660.55Deafness, autosomal recessive 24611022
RECQL4127.60.970.96Baller-Gerold syndrome,218600
RECQL4127.60.970.96RAPADILINO syndrome,266280
RECQL4127.60.970.96Rothmund-Thomson syndrome,268400
REEP191.310.95Spastic paraplegia 31 autosomal dominant,610250
REEP191.310.95?Neuronopathy, distal hereditary motor, type VB,614751
RELN14710.99Lissencephaly 2 (Norman-Roberts type),257320
RELN14710.99{Epilepsy, familial temporal lobe, 7},616436
REN13411Hyperuricemic nephropathy, familial juvenile 2613092
REN13411Renal tubular dysgenesis,267430
REN13411[Hyperproreninemia]267430
RERE67.50.960.91Neurodevelopmental disorder with or without anomalies of the brain,eye or heart,616975
RET127.80.980.96Central hypoventilation syndrome, congenital,209880
RET127.80.980.96Medullary thyroid carcinoma,155240
RET127.80.980.96Multiple endocrine neoplasia IIA,171400
RET127.80.980.96Multiple endocrine neoplasia IIB,162300
RET127.80.980.96Pheochromocytoma,171300
RET127.80.980.96{Hirschsprung disease, susceptibility to, 1},142623
RFT197.610.95Congenital disorder of glycosylation, type In,612015
RFX593.90.980.95Bare lymphocyte syndrome, type II, complementation group C,209920
RFX593.90.980.95Bare lymphocyte syndrome, type II, complementation group E,209920
RFX6135.611Mitchell-Riley syndrome,615710
RFXANK97.711MHC class II deficiency, complementation group B,209920
RFXAP100.90.940.93Bare lymphocyte syndrome, type II, complementation group D,209920
RGR111.511Retinitis pigmentosa 44613769
RGS991.210.94Bradyopsia,608415
RGS9BP65.810.99Bradyopsia,608415
RHAG147.510.96Anemia, hemolytic, Rh-null, regulator type,268150
RHAG147.510.96Overhydrated hereditary stomatocytosis,185000
RHAG147.510.96Rh-mod syndrome185000
RHBDF292.30.970.95Tylosis with esophageal cancer,148500
RHCE1530.990.99Rh-null disease, amorph type,111700
RHCE1530.990.99[Blood group, Rhesus],111690
RHO186.411Night blindness, congenital stationary, autosomal dominant 1610445
RHO186.411Retinitis pigmentosa 4 autosomal dominant or recessive,613731
RHO186.411Retinitis punctata albescens,136880
RIMS1102.90.990.94Cone-rod dystrophy 7603649
RIN296.210.99Macrocephaly, alopecia, cutis laxa, and scoliosis,613075
RIPK4125.910.99Popliteal pterygium syndrome, Bartsocas-Papas type,263650
RIT1145.211Noonan syndrome 8615355
RLBP1109.611Bothnia retinal dystrophy,607475
RLBP1109.611Fundus albipunctatus,136880
RLBP1109.611Newfoundland rod-cone dystrophy,607476
RLBP1109.611Retinitis punctata albescens,136880
RLIM140.411Mental Retardation, X-linked 61300978
RMND1117.80.990.96Combined oxidative phosphorylation deficiency 11614922
RMND1117.80.990.96RMRP NC NC NC Anauxetic dysplasia,607095
RMND1117.80.990.96Cartilage-hair hypoplasia,250250
RMND1117.80.990.96Metaphyseal dysplasia without hypotrichosis,250460
RNASEH1920.940.91Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479
RNASEH2A111.110.99Aicardi-Goutieres syndrome 4610333
RNASEH2B101.20.90.87Aicardi-Goutieres syndrome 2610181
RNASEH2C156.210.99Aicardi-Goutieres syndrome 3610329
RNASEL121.70.990.98Prostate cancer 1601518
RNASET273.70.930.85Leukoencephalopathy, cystic, without megalencephaly,612951
RNF125148.210.98Tenorio syndrome,616260
RNF135690.930.87Macrocephaly, macrosomia, facial dysmorphism syndrome,614192
RNF139199.911Renal cell carcinoma,144700
RNF168202.210.98RIDDLE syndrome,611943
RNF170112.10.960.93Ataxia, sensory, 1 autosomal dominant,608984
RNF212100.90.990.95Recombination rate QTL 1612042
RNF216122.40.990.95Cerebellar ataxia and hypogonadotropic hypogonadism,212840
RNF6175.311Esophageal carcinoma, somatic,133239
RNF6175.311RNU4ATAC NC NC NC Microcephalic osteodysplastic primordial dwarfism, type I,210710
RNF6175.311Roifman syndrome,616651
ROBO2127.40.970.96Vesicoureteral reflux 2610878
ROBO384.90.980.93Gaze palsy, horizontal, with progressive scoliosis,607313
ROGDI106.50.950.94Kohlschutter-Tonz syndrome,226750
ROM1100.910.98Retinitis pigmentosa 7 digenic,608133
ROR2153.60.990.98Brachydactyly, type B1,113000
ROR2153.60.990.98Robinow syndrome, autosomal recessive,268310
RORC11410.99Immunodeficiency 42616622
RP1112.710.98Retinitis pigmentosa 1180100
RP1L186.710.99Occult macular dystrophy,613587
RP2213.411Retinitis pigmentosa 2312600
RPE65122.80.990.98Leber congenital amaurosis 2204100
RPE65122.80.990.98Retinitis pigmentosa 20613794
RPGR108.10.850.78Cone-rod dystrophy, X-linked, 1304020
RPGR108.10.850.78Macular degeneration, X-linked atrophic,300834
RPGR108.10.850.78Retinitis pigmentosa 3300029
RPGR108.10.850.78Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness,300455
RPGRIP1132.610.99Cone-rod dystrophy 13608194
RPGRIP1132.610.99Leber congenital amaurosis 6613826
RPGRIP1L128.50.960.93COACH syndrome,216360
RPGRIP1L128.50.960.93Joubert syndrome 7611560
RPGRIP1L128.50.960.93Meckel syndrome 5611561
RPL1183.910.99Diamond-Blackfan anemia 7612562
RPL2172.10.80.65Hypotrichosis 12615885
RPL35A59.20.930.81Diamond-Blackfan anemia 5612528
RPL530.20.690.55Diamond-Blackfan anemia 6612561
RPS1097.40.990.89Diamond-Blackfan anemia 9613308
RPS14111.10.960.92Macrocytic anemia, refractory, due to 5q deletion, somatic,153550
RPS1740.60.690.69Diamond-Blackfan anemia 4612527
RPS1966.210.99Diamond-Blackfan anemia 1105650
RPS2488.70.870.87Diamond-blackfan anemia 3610629
RPS26770.990.91Diamond-Blackfan anemia 10613309
RPS2834.80.930.82Diamond Blackfan anemia 15 with mandibulofacial dysostosis,606164
RPS2957.50.990.93Diamond-Blackfan anemia 13615909
RPS6KA398.80.980.93Coffin-Lowry syndrome,303600
RPS6KA398.80.980.93Mental retardation, X-linked 19300844
RPS789.70.860.63Diamond-Blackfan anemia 8612563
RPSA6211Asplenia, isolated congenital,271400
RRAS270.80.810.75Ovarian carcinoma271400
RRM2B133.10.990.97Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy),612075
RRM2B133.10.990.97Mitochondrial DNA depletion syndrome 8B (MNGIE type),612075
RRM2B133.10.990.97Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5613077
RS164.10.990.95Retinoschisis,312700
RSPH1148.311Ciliary dyskinesia, primary, 24615481
RSPH3110.80.980.96Ciliary dyskinesia, primary, 32616481
RSPH4A123.70.960.94Ciliary dyskinesia, primary, 11612649
RSPH9130.210.99Ciliary dyskinesia, primary, 12612650
RSPO197.911Palmoplantar hyperkeratosis and true hermaphroditism,610644
RSPO197.911Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal,610644
RSPO4103.611Anonychia congenita,206800
RSPRY1141.310.99Spondylopeimetaphyseal dsyplasia, Faden-Alkuraya type,616723
RTEL11100.990.96Dyskeratosis congenita, autosomal dominant 4615190
RTEL11100.990.96Dyskeratosis congenita, autosomal recessive 5615190
RTEL11100.990.96Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3616373
RTN297.10.960.9Spastic paraplegia 12 autosomal dominant,604805
RTN4IP182.50.980.96Optic atrophy 10 with or without ataxia, mental retardation, and seizures,616732
RTTN121.20.970.94Microcephaly,short stature,and polymicrogyria with seizures,614833
RUNX195.20.950.91Leukemia, acute myeloid,601626
RUNX195.20.950.91Platelet disorder, familial, with associated myeloid malignancy,601399
RUNX282.10.740.74Cleidocranial dysplasia,119600
RUNX282.10.740.74Cleidocranial dysplasia, forme fruste, dental anomalies only,119600
RUNX282.10.740.74Cleidocranial dysplasia, forme fruste, with brachydactyly,119600
RUNX282.10.740.74Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly,156510
RYR1102.90.960.92Central core disease,117000
RYR1102.90.960.92King-Denborough syndrome,145600
RYR1102.90.960.92Minicore myopathy with external ophthalmoplegia,255320
RYR1102.90.960.92Neuromuscular disease, congenital, with uniform type 1 fiber,117000
RYR1102.90.960.92{Malignant hyperthermia susceptibility 1},145600
RYR2124.40.990.97Arrhythmogenic right ventricular dysplasia 2600996
RYR2124.40.990.97Ventricular tachycardia, catecholaminergic polymorphic, 1604772
S1PR2191.70.90.88Deafness, autosomal recessive 68610419
SACS142.50.990.99Spastic ataxia, Charlevoix-Saguenay type,270550
SAG119.911Oguchi disease-1,258100
SAG119.911Retinitis pigmentosa 47613758
SALL1115.30.980.98Townes-Brocks branchiootorenal-like syndrome,107480
SALL1115.30.980.98Townes-Brocks syndrome,107480
SALL4120.30.970.95Duane-radial ray syndrome,607323
SALL4120.30.970.95IVIC syndrome,147750
SAMD9158.110.99MIRAGE syndrome,617053
SAMD9158.110.99Tumoral calcinosis, familial, normophosphatemic,610455
SAMD9L145.211Ataxia-pancytopenia syndrome,159550
SAMHD1120.610.98Aicardi-Goutieres syndrome 5612952
SAMHD1120.610.98?Chilblain lupus 2614415
SAR1B125.60.890.88Chylomicron retention disease,246700
SARS297.20.960.95Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis,613845
SATB297.50.970.86Glass syndrome,612313
SBDS163.610.99Shwachman-Diamond syndrome,260400
SBDS163.610.99{Aplastic anemia, susceptibility to},609135
SBF185.10.990.94Charcot-Marie-Tooth disease, type 4B3,615284
SBF2112.70.980.96Charcot-Marie-Tooth disease, type 4B2,604563
SC5D169.710.97Lathosterolosis,607330
SCARB2113.410.97Epilepsy, progressive myoclonic 4 with or without renal failure,254900
SCARF262.80.880.73Van den Ende-Gupta syndrome,600920
SCN10A15510.99Episodic pain syndrome, familial, 2615551
SCN11A127.10.990.97Episodic pain syndrome, familial, 3615552
SCN11A127.10.990.97Neuropathy, hereditary sensory and autonomic, type VII,615548
SCN1A122.50.990.96Dravet syndrome,607208
SCN1A122.50.990.96Epilepsy, generalized, with febrile seizures plus, type 2604403
SCN1A122.50.990.96Febrile seizures, familial, 3A,604403
SCN1A122.50.990.96Migraine, familial hemiplegic, 3609634
SCN1B146.710.96Atrial fibrillation, familial, 13615377
SCN1B146.710.96Brugada syndrome 5612838
SCN1B146.710.96Cardiac conduction defect, nonspecific,612838
SCN1B146.710.96Epilepsy, generalized, with febrile seizures plus, type 1604233
SCN2A132.40.990.96Epileptic encephalopathy, early infantile, 11613721
SCN2A132.40.990.96Seizures, benign familial infantile, 3607745
SCN2B170.411Atrial fibrillation, familial, 14615378
SCN3B132.411Atrial fibrillation, familial, 16613120
SCN3B132.411Brugada syndrome 7613120
SCN4A188.510.99Hyperkalemic periodic paralysis, type 2170500
SCN4A188.510.99Hypokalemic periodic paralysis, type 2613345
SCN4A188.510.99Myasthenic syndrome, congenital, 16614198
SCN4A188.510.99Myotonia congenita, atypical, acetazolamide-responsive,608390
SCN4A188.510.99Paramyotonia congenita,168300
SCN4B64.310.97Atrial fibrillation, familial, 17611819
SCN4B64.310.97Long QT syndrome-10,611819
SCN5A145.711Atrial fibrillation, familial, 10614022
SCN5A145.711Brugada syndrome 1601144
SCN5A145.711Cardiomyopathy, dilated, 1E,601154
SCN5A145.711Heart block, nonprogressive,113900
SCN5A145.711Heart block, progressive, type IA,113900
SCN5A145.711Long QT syndrome-3,603830
SCN5A145.711Sick sinus syndrome 1608567
SCN5A145.711Ventricular fibrillation, familial, 1603829
SCN5A145.711{Sudden infant death syndrome, susceptibility to},272120
SCN8A180.810.99Epileptic encephalopathy, early infantile, 13614558
SCN8A180.810.99?Cognitive impairment with or without cerebellar ataxia,614306
SCN9A128.50.980.94Epilepsy, generalized, with febrile seizures plus, type 7613863
SCN9A128.50.980.94Erythermalgia, primary,133020
SCN9A128.50.980.94Febrile seizures, familial, 3B,613863
SCN9A128.50.980.94HSAN2D, autosomal recessive,243000
SCN9A128.50.980.94Insensitivity to pain, congenital,243000
SCN9A128.50.980.94Paroxysmal extreme pain disorder,167400
SCN9A128.50.980.94Small fiber neuropathy,133020
SCN9A128.50.980.94{Dravet syndrome, modifier of},607208
SCNN1A109.40.970.93Bronchiectasis with or without elevated sweat chloride 2613021
SCNN1A109.40.970.93Pseudohypoaldosteronism, type I,264350