qGenEx® MEN. Panel Mendelioma
Lista de genes
| Gene | Median coverage | % covered > 10x | % covered > 20x | Associated Phenotype | OMIM disease ID |
|---|---|---|---|---|---|
| A2M | 109 | 0.99 | 0.99 | Alpha-2-macroglobulin deficiency, | 614036 |
| A2M | 109 | 0.99 | 0.99 | {Alzheimer disease, susceptibility to}, | 104300 |
| A4GALT | 123.7 | 1 | 1 | NOR polyagglutination syndrome, | 111400 |
| A4GALT | 123.7 | 1 | 1 | [Blood group, P1Pk system, P phenotype], | 111400 |
| A4GALT | 123.7 | 1 | 1 | [Blood group, P1Pk system, p phenotype], | 111400 |
| AAAS | 77.2 | 1 | 0.97 | Achalasia-addisonianism-alacrimia syndrome, | 231550 |
| AAGAB | 133.1 | 0.99 | 0.92 | Keratoderma, palmoplantar, punctate type IA, | 148600 |
| AARS | 112.5 | 0.99 | 0.96 | Charcot-Marie-Tooth disease, axonal, type 2N, | 613287 |
| AARS | 112.5 | 0.99 | 0.96 | Epileptic encephalopathy, early infantile, 29 | 616339 |
| AARS2 | 109.2 | 0.99 | 0.97 | Combined oxidative phosphorylation deficiency 8 | 614096 |
| AARS2 | 109.2 | 0.99 | 0.97 | Leukoencephalopathy, progressive, with ovarian failure, | 615889 |
| AASS | 120.8 | 1 | 0.96 | Hyperlysinemia, | 238700 |
| AASS | 120.8 | 1 | 0.96 | Saccharopinuria, | 268700 |
| ABAT | 79.3 | 1 | 1 | GABA-transaminase deficiency, | 613163 |
| ABCA1 | 112.7 | 0.99 | 0.98 | HDL deficiency, type 2 | 604091 |
| ABCA1 | 112.7 | 0.99 | 0.98 | Tangier disease, | 205400 |
| ABCA1 | 112.7 | 0.99 | 0.98 | {Coronary artery disease in familial hypercholesterolemia, protection against}, | 143890 |
| ABCA12 | 131.5 | 0.99 | 0.96 | Ichthyosis, autosomal recessive 4B (harlequin), | 242500 |
| ABCA12 | 131.5 | 0.99 | 0.96 | Ichthyosis, congenital, autosomal recessive 4A, | 601277 |
| ABCA3 | 109.2 | 0.99 | 0.98 | Surfactant metabolism dysfunction, pulmonary, 3 | 610921 |
| ABCA4 | 106.1 | 1 | 0.97 | Cone-rod dystrophy 3 | 604116 |
| ABCA4 | 106.1 | 1 | 0.97 | Fundus flavimaculatus, | 248200 |
| ABCA4 | 106.1 | 1 | 0.97 | Retinal dystrophy, early-onset severe, | 248200 |
| ABCA4 | 106.1 | 1 | 0.97 | Retinitis pigmentosa 19 | 601718 |
| ABCA4 | 106.1 | 1 | 0.97 | Stargardt disease 1 | 248200 |
| ABCA4 | 106.1 | 1 | 0.97 | {Macular degeneration, age-related, 2}, | 153800 |
| ABCB11 | 150.3 | 1 | 0.98 | Cholestasis, benign recurrent intrahepatic, 2 | 605479 |
| ABCB11 | 150.3 | 1 | 0.98 | Cholestasis, progressive familial intrahepatic 2 | 601847 |
| ABCB4 | 110.5 | 0.98 | 0.94 | Cholestasis, intrahepatic, of pregnancy, 3 | 614972 |
| ABCB4 | 110.5 | 0.98 | 0.94 | Cholestasis, progressive familial intrahepatic 3 | 602347 |
| ABCB4 | 110.5 | 0.98 | 0.94 | Gallbladder disease 1 | 600803 |
| ABCB6 | 106.3 | 0.99 | 0.98 | Dyschromatosis universalis hereditaria 3 | 615402 |
| ABCB6 | 106.3 | 0.99 | 0.98 | Microphthalmia, isolated, with coloboma 7 | 614497 |
| ABCB6 | 106.3 | 0.99 | 0.98 | Pseudohyperkalemia, familial, 2 due to red cell leak, | 609153 |
| ABCB6 | 106.3 | 0.99 | 0.98 | [Blood group, Langereis system], | 111600 |
| ABCB7 | 170.5 | 1 | 0.97 | Anemia, sideroblastic, with ataxia, | 301310 |
| ABCC2 | 132.7 | 1 | 1 | Dubin-Johnson syndrome, | 237500 |
| ABCC6 | 86.5 | 0.92 | 0.9 | Arterial calcification, generalized, of infancy, 2 | 614473 |
| ABCC6 | 86.5 | 0.92 | 0.9 | Pseudoxanthoma elasticum, | 264800 |
| ABCC6 | 86.5 | 0.92 | 0.9 | Pseudoxanthoma elasticum, forme fruste, | 177850 |
| ABCC8 | 128.1 | 1 | 0.99 | Diabetes mellitus, noninsulin-dependent, | 125853 |
| ABCC8 | 128.1 | 1 | 0.99 | Diabetes mellitus, permanent neonatal, | 606176 |
| ABCC8 | 128.1 | 1 | 0.99 | Diabetes mellitus, transient neonatal 2 | 610374 |
| ABCC8 | 128.1 | 1 | 0.99 | Hyperinsulinemic hypoglycemia, familial, 1 | 256450 |
| ABCC8 | 128.1 | 1 | 0.99 | Hypoglycemia of infancy, leucine-sensitive, | 240800 |
| ABCC9 | 141.6 | 1 | 0.98 | Atrial fibrillation, familial, 12 | 614050 |
| ABCC9 | 141.6 | 1 | 0.98 | Cardiomyopathy, dilated, 1O, | 608569 |
| ABCC9 | 141.6 | 1 | 0.98 | Hypertrichotic osteochondrodysplasia, | 239850 |
| ABCD1 | 95.4 | 0.73 | 0.68 | Adrenoleukodystrophy, | 300100 |
| ABCD1 | 95.4 | 0.73 | 0.68 | Adrenomyeloneuropathy, adult, | 300100 |
| ABCD4 | 123.5 | 1 | 0.98 | Methylmalonic aciduria and homocystinuria, cblJ type, | 614857 |
| ABCG5 | 129 | 1 | 1 | Sitosterolemia, | 210250 |
| ABCG8 | 140.8 | 1 | 0.96 | Sitosterolemia, | 210250 |
| ABCG8 | 140.8 | 1 | 0.96 | {Gallbladder disease 4}, | 611465 |
| ABHD12 | 89.3 | 1 | 0.88 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, | 612674 |
| ABHD5 | 206.1 | 1 | 1 | Chanarin-Dorfman syndrome, | 275630 |
| ABL1 | 121.5 | 1 | 0.99 | Leukemia, Philadelphia chromosome-positive, resistant to imatinib | 275630 |
| ACAD8 | 111.4 | 1 | 1 | Isobutyryl-CoA dehydrogenase deficiency, | 611283 |
| ACAD9 | 113.4 | 0.98 | 0.94 | Mitochondrial complex I deficiency due to ACAD9 deficiency, | 611126 |
| ACADM | 94.6 | 0.98 | 0.93 | Acyl-CoA dehydrogenase, medium chain, deficiency of, | 201450 |
| ACADS | 113.7 | 0.99 | 0.96 | Acyl-CoA dehydrogenase, short-chain, deficiency of, | 201470 |
| ACADSB | 111.4 | 0.96 | 0.87 | 2-methylbutyrylglycinuria, | 610006 |
| ACADVL | 103.2 | 1 | 0.95 | VLCAD deficiency, | 201475 |
| ACAN | 105.3 | 0.91 | 0.82 | Osteochondritis dissecans, short stature, and early-onset osteoarthritis, | 165800 |
| ACAN | 105.3 | 0.91 | 0.82 | Spondyloepimetaphyseal dysplasia, aggrecan type, | 612813 |
| ACAN | 105.3 | 0.91 | 0.82 | Spondyloepiphyseal dysplasia, Kimberley type, | 608361 |
| ACAT1 | 106.6 | 0.96 | 0.84 | Alpha-methylacetoacetic aciduria, | 203750 |
| ACE | 98.6 | 0.92 | 0.87 | Renal tubular dysgenesis, | 267430 |
| ACE | 98.6 | 0.92 | 0.87 | [Angiotensin I-converting enzyme, benign serum increase] | 267430 |
| ACE | 98.6 | 0.92 | 0.87 | {Microvascular complications of diabetes 3}, | 612624 |
| ACE | 98.6 | 0.92 | 0.87 | {Myocardial infarction, susceptibility to} | 612624 |
| ACE | 98.6 | 0.92 | 0.87 | {SARS, progression of} | 612624 |
| ACE | 98.6 | 0.92 | 0.87 | {Stroke, hemorrhagic}, | 614519 |
| ACO2 | 106.8 | 0.94 | 0.88 | Infantile cerebellar-retinal degeneration, | 614559 |
| ACO2 | 106.8 | 0.94 | 0.88 | ?Optic atrophy 9 | 616289 |
| ACOX1 | 158.8 | 1 | 1 | Peroxisomal acyl-CoA oxidase deficiency, | 264470 |
| ACP5 | 179.2 | 1 | 0.97 | Spondyloenchondrodysplasia with immune dysregulation, | 607944 |
| ACSF3 | 123.6 | 1 | 0.98 | Combined malonic and methylmalonic aciduria, | 614265 |
| ACSL4 | 136.5 | 0.98 | 0.89 | Mental retardation, X-linked 63 | 300387 |
| ACSL6 | 109.9 | 1 | 0.98 | Myelodysplastic syndrome | 300387 |
| ACSL6 | 109.9 | 1 | 0.98 | Myelogenous leukemia, acute | 300387 |
| ACTA1 | 82.9 | 1 | 0.95 | Myopathy, actin, congenital, with cores, | 161800 |
| ACTA1 | 82.9 | 1 | 0.95 | Myopathy, actin, congenital, with excess of thin myofilaments, | 161800 |
| ACTA1 | 82.9 | 1 | 0.95 | Myopathy, congenital, with fiber-type disproportion 1 | 255310 |
| ACTA1 | 82.9 | 1 | 0.95 | Nemaline myopathy 3 autosomal dominant or recessive, | 161800 |
| ACTA1 | 82.9 | 1 | 0.95 | ?Myopathy, scapulohumeroperoneal, | 616852 |
| ACTA2 | 126.5 | 1 | 0.98 | Aortic aneurysm, familial thoracic 6 | 611788 |
| ACTA2 | 126.5 | 1 | 0.98 | Moyamoya disease 5 | 614042 |
| ACTA2 | 126.5 | 1 | 0.98 | Multisystemic smooth muscle dysfunction syndrome, | 613834 |
| ACTB | 90.3 | 1 | 0.9 | Baraitser-Winter syndrome 1 | 243310 |
| ACTB | 90.3 | 1 | 0.9 | ?Dystonia, juvenile-onset, | 607371 |
| ACTC1 | 143.2 | 1 | 0.99 | Atrial septal defect 5 | 612794 |
| ACTC1 | 143.2 | 1 | 0.99 | Cardiomyopathy, dilated, 1R, | 613424 |
| ACTC1 | 143.2 | 1 | 0.99 | Cardiomyopathy, hypertrophic, 11 | 612098 |
| ACTC1 | 143.2 | 1 | 0.99 | Left ventricular noncompaction 4 | 613424 |
| ACTG1 | 101.9 | 1 | 1 | Baraitser-Winter syndrome 2 | 614583 |
| ACTG1 | 101.9 | 1 | 1 | Deafness, autosomal dominant 20/26, | 604717 |
| ACTG2 | 118.9 | 0.99 | 0.96 | Visceral myopathy, | 155310 |
| ACTN1 | 128.7 | 1 | 0.99 | Bleeding disorder, platelet-type, 15 | 615193 |
| ACTN2 | 132.6 | 1 | 1 | Cardiomyopathy, dilated, 1AA, with or without LVNC, | 612158 |
| ACTN2 | 132.6 | 1 | 1 | Cardiomyopathy, hypertrophic, 23 with or without LVNC, | 612158 |
| ACTN4 | 113 | 1 | 1 | Glomerulosclerosis, focal segmental, 1 | 603278 |
| ACVR1 | 142.8 | 1 | 0.98 | Fibrodysplasia ossificans progressiva, | 135100 |
| ACVR1B | 149.7 | 0.99 | 0.94 | Pancreatic cancer, somatic | 135100 |
| ACVR2B | 125.8 | 0.95 | 0.9 | Heterotaxy, visceral, 4 autosomal, | 613751 |
| ACVRL1 | 106.2 | 0.99 | 0.97 | Telangiectasia, hereditary hemorrhagic, type 2 | 600376 |
| ACY1 | 121.8 | 0.99 | 0.95 | Aminoacylase 1 deficiency, | 609924 |
| ADA | 96.3 | 0.98 | 0.95 | Adenosine deaminase deficiency, partial, | 102700 |
| ADA | 96.3 | 0.98 | 0.95 | Severe combined immunodeficiency due to ADA deficiency, | 102700 |
| ADAM10 | 131.1 | 0.99 | 0.98 | Reticulate acropigmentation of Kitamura, | 615537 |
| ADAM10 | 131.1 | 0.99 | 0.98 | {Alzheimer disease 18 susceptibility to}, | 615590 |
| ADAM9 | 134.7 | 1 | 0.94 | Cone-rod dystrophy 9 | 612775 |
| ADAMTS10 | 93 | 0.99 | 0.96 | Weill-Marchesani syndrome 1 recessive, | 277600 |
| ADAMTS13 | 93 | 0.95 | 0.91 | Thrombotic thrombocytopenic purpura, familial, | 274150 |
| ADAMTS17 | 105.9 | 0.88 | 0.87 | Weill-Marchesani-like syndrome, | 613195 |
| ADAMTS18 | 140.7 | 1 | 0.98 | Microcornea, myopic chorioretinal atrophy, and telecanthus, | 615458 |
| ADAMTS2 | 108 | 1 | 0.96 | Ehlers-Danlos syndrome, type VIIC, | 225410 |
| ADAMTSL2 | 98.4 | 0.87 | 0.82 | Geleophysic dysplasia 1 | 231050 |
| ADAMTSL4 | 77.7 | 0.99 | 0.98 | Ectopia lentis et pupillae, | 225200 |
| ADAMTSL4 | 77.7 | 0.99 | 0.98 | Ectopia lentis, isolated, autosomal recessive, | 225100 |
| ADAR | 106.4 | 1 | 0.98 | Aicardi-Goutieres syndrome 6 | 615010 |
| ADAR | 106.4 | 1 | 0.98 | Dyschromatosis symmetrica hereditaria, | 127400 |
| ADAT3 | 66.4 | 1 | 0.97 | Mental retardation, autosomal recessive 36 | 615286 |
| ADCK3 | 113.7 | 1 | 0.99 | Coenzyme Q10 deficiency, primary, 4 | 612016 |
| ADCK4 | 84.7 | 1 | 0.99 | Nephrotic syndrome, type 9 | 615573 |
| ADCY5 | 113.8 | 0.92 | 0.89 | Dyskinesia, familial, with facial myokymia, | 606703 |
| ADD3 | 157.7 | 0.99 | 0.98 | Cerebral palsy,spastic quadriplegic,3, | 617008 |
| ADIPOQ | 113 | 1 | 1 | Adiponectin deficiency, | 612556 |
| ADK | 84.1 | 0.99 | 0.93 | Hypermethioninemia due to adenosine kinase deficiency, | 614300 |
| ADNP | 210.8 | 1 | 0.99 | Helsmoortel-van der Aa syndrome, | 615873 |
| ADRA2B | 172.1 | 1 | 1 | Epilepsy, myoclonic, familial adult, 2 | 607876 |
| ADSL | 152.2 | 1 | 1 | Adenylosuccinase deficiency, | 103050 |
| ADSSL1 | 109.3 | 0.98 | 0.9 | Myopathy, distal, 5 | 617030 |
| AFF2 | 152 | 1 | 1 | Mental retardation, X-linked, FRAXE type, | 309548 |
| AFF4 | 101.4 | 0.96 | 0.95 | CHOPS syndrome, | 616368 |
| AFG3L2 | 96 | 0.89 | 0.78 | Ataxia, spastic, 5 autosomal recessive, | 614487 |
| AFG3L2 | 96 | 0.89 | 0.78 | Spinocerebellar ataxia 28 | 610246 |
| AGA | 130.4 | 1 | 1 | Aspartylglucosaminuria, | 208400 |
| AGBL1 | 120 | 0.99 | 0.99 | Corneal dystrophy, Fuchs endothelial, 8 | 615523 |
| AGBL5 | 96.7 | 0.99 | 0.97 | Retinitis pigmentosa 75, | 617023 |
| AGK | 113.9 | 0.98 | 0.94 | Cataract 38 autosomal recessive, | 614691 |
| AGK | 113.9 | 0.98 | 0.94 | Sengers syndrome, | 212350 |
| AGL | 133 | 1 | 0.97 | Glycogen storage disease IIIa, | 232400 |
| AGL | 133 | 1 | 0.97 | Glycogen storage disease IIIb, | 232400 |
| AGPAT2 | 103 | 0.99 | 0.94 | Lipodystrophy, congenital generalized, type 1 | 608594 |
| AGPS | 49.4 | 0.94 | 0.78 | Rhizomelic chondrodysplasia punctata, type 3 | 600121 |
| AGRN | 103.1 | 0.97 | 0.9 | Myasthenic syndrome, congenital, 8 with pre- and postsynaptic defects, | 615120 |
| AGT | 157.6 | 1 | 1 | Renal tubular dysgenesis, | 267430 |
| AGT | 157.6 | 1 | 1 | {Hypertension, essential, susceptibility to}, | 145500 |
| AGT | 157.6 | 1 | 1 | {Preeclampsia, susceptibility to} | 145500 |
| AGTR1 | 132.6 | 1 | 1 | Renal tubular dysgenesis, | 267430 |
| AGTR1 | 132.6 | 1 | 1 | {Hypertension, essential}, | 145500 |
| AGXT | 125 | 1 | 1 | Hyperoxaluria, primary, type 1 | 259900 |
| AHCY | 106.4 | 1 | 0.98 | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, | 613752 |
| AHDC1 | 110.1 | 1 | 0.96 | Xia-Gibbs syndrome, | 615829 |
| AHI1 | 123.6 | 0.99 | 0.91 | Joubert syndrome-3, | 608629 |
| AICDA | 115 | 0.99 | 0.97 | Immunodeficiency with hyper-IgM, type 2 | 605258 |
| AIFM1 | 143.5 | 1 | 1 | Combined oxidative phosphorylation deficiency 6 | 300816 |
| AIFM1 | 143.5 | 1 | 1 | Cowchock syndrome, | 310490 |
| AIFM1 | 143.5 | 1 | 1 | Deafness, X-linked 5 | 300614 |
| AIMP1 | 84.3 | 0.97 | 0.91 | Leukodystrophy, hypomyelinating, 3 | 260600 |
| AIP | 135.3 | 0.98 | 0.95 | Pituitary adenoma, ACTH-secreting, | 219090 |
| AIP | 135.3 | 0.98 | 0.95 | Pituitary adenoma, growth hormone-secreting, | 102200 |
| AIP | 135.3 | 0.98 | 0.95 | Pituitary adenoma, prolactin-secreting, | 600634 |
| AIPL1 | 107.4 | 1 | 1 | Cone-rod dystrophy, | 604393 |
| AIPL1 | 107.4 | 1 | 1 | Leber congenital amaurosis 4 | 604393 |
| AIPL1 | 107.4 | 1 | 1 | Retinitis pigmentosa, juvenile, | 604393 |
| AIRE | 69.3 | 0.98 | 0.91 | Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, | 604393 |
| AIRE | 69.3 | 0.98 | 0.91 | Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, | 240300 |
| AK1 | 95.6 | 1 | 1 | Hemolytic anemia due to adenylate kinase deficiency, | 612631 |
| AK2 | 91.7 | 0.97 | 0.88 | Reticular dysgenesis, | 267500 |
| AKR1C2 | 139.6 | 0.95 | 0.84 | 46XY sex reversal 8 | 614279 |
| AKR1C2 | 139.6 | 0.95 | 0.84 | Obesity, hyperphagia, and developmental delay | 614279 |
| AKR1D1 | 89.3 | 0.93 | 0.87 | Bile acid synthesis defect, congenital, 2 | 235555 |
| AKT1 | 148.4 | 1 | 0.98 | Breast cancer, somatic, | 114480 |
| AKT1 | 148.4 | 1 | 0.98 | Colorectal cancer, somatic, | 114500 |
| AKT1 | 148.4 | 1 | 0.98 | Cowden syndrome 6 | 615109 |
| AKT1 | 148.4 | 1 | 0.98 | Ovarian cancer, somatic, | 167000 |
| AKT1 | 148.4 | 1 | 0.98 | Proteus syndrome, somatic, | 176920 |
| AKT1 | 148.4 | 1 | 0.98 | {Schizophrenia, susceptibility to}, | 181500 |
| AKT2 | 125.5 | 0.99 | 0.98 | Diabetes mellitus, type II, | 125853 |
| AKT2 | 125.5 | 0.99 | 0.98 | Hypoinsulinemic hypoglycemia with hemihypertrophy, | 240900 |
| AKT3 | 69.2 | 0.99 | 0.89 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 615937 |
| ALAD | 99.9 | 1 | 1 | Porphyria, acute hepatic, | 612740 |
| ALAD | 99.9 | 1 | 1 | {Lead poisoning, susceptibility to}, | 612740 |
| ALAS2 | 110.7 | 1 | 0.96 | Anemia, sideroblastic, 1 | 300751 |
| ALAS2 | 110.7 | 1 | 0.96 | Protoporphyria, erythropoietic, X-linked, | 300752 |
| ALB | 141.4 | 1 | 0.97 | Analbuminemia, | 616000 |
| ALB | 141.4 | 1 | 0.97 | [Dysalbuminemic hyperthyroxinemia], | 615999 |
| ALDH18A1 | 115.4 | 1 | 0.99 | Cutis laxa, autosomal dominant 3 | 616603 |
| ALDH18A1 | 115.4 | 1 | 0.99 | Cutis laxa, autosomal recessive, type IIIA, | 219150 |
| ALDH18A1 | 115.4 | 1 | 0.99 | Spastic paraplegia 9A, autosomal dominant, | 601162 |
| ALDH18A1 | 115.4 | 1 | 0.99 | Spastic paraplegia 9B, autosomal recessive, | 616586 |
| ALDH1A3 | 101.2 | 0.94 | 0.91 | Microphthalmia, isolated 8 | 615113 |
| ALDH2 | 108.7 | 1 | 0.98 | Alcohol sensitivity, acute, | 610251 |
| ALDH2 | 108.7 | 1 | 0.98 | {Esophageal cancer, alcohol-related, susceptibility to} | 610251 |
| ALDH2 | 108.7 | 1 | 0.98 | {Hangover, susceptibility to}, | 610251 |
| ALDH2 | 108.7 | 1 | 0.98 | {Sublingual nitroglycerin, susceptibility to poor response to} | 610251 |
| ALDH3A2 | 122 | 1 | 1 | Sjogren-Larsson syndrome, | 270200 |
| ALDH4A1 | 104.2 | 0.98 | 0.97 | Hyperprolinemia, type II, | 239510 |
| ALDH5A1 | 71.5 | 0.9 | 0.8 | Succinic semialdehyde dehydrogenase deficiency, | 271980 |
| ALDH6A1 | 113.1 | 1 | 1 | Methylmalonate semialdehyde dehydrogenase deficiency, | 614105 |
| ALDH7A1 | 62.7 | 0.91 | 0.83 | Epilepsy, pyridoxine-dependent, | 266100 |
| ALDOA | 148.8 | 1 | 0.96 | Glycogen storage disease XII, | 611881 |
| ALDOB | 136.6 | 1 | 0.98 | Fructose intolerance, | 229600 |
| ALG1 | 49.1 | 0.52 | 0.47 | Congenital disorder of glycosylation, type Ik, | 608540 |
| ALG11 | 144.7 | 1 | 1 | Congenital disorder of glycosylation, type Ip, | 613661 |
| ALG12 | 132.7 | 1 | 1 | Congenital disorder of glycosylation, type Ig, | 607143 |
| ALG13 | 105.4 | 1 | 0.96 | Epileptic encephalopathy, early infantile, 36 | 300884 |
| ALG2 | 95.5 | 1 | 1 | Myasthenic syndrome, congenital, 14 with tubular aggregates, | 616228 |
| ALG2 | 95.5 | 1 | 1 | ?Congenital disorder of glycosylation, type Ii, | 607906 |
| ALG3 | 99.2 | 1 | 0.99 | Congenital disorder of glycosylation, type Id, | 601110 |
| ALG6 | 90.4 | 0.95 | 0.94 | Congenital disorder of glycosylation, type Ic, | 603147 |
| ALG8 | 118.3 | 0.95 | 0.92 | Congenital disorder of glycosylation, type Ih, | 608104 |
| ALG9 | 112 | 1 | 0.98 | Congenital disorder of glycosylation, type Il, | 608776 |
| ALG9 | 112 | 1 | 0.98 | Gillessen-Kaesbach-Nishimura syndrome, | 263210 |
| ALMS1 | 157.8 | 0.99 | 0.99 | Alstrom syndrome, | 203800 |
| ALOX12B | 118.1 | 1 | 0.98 | Ichthyosis, congenital, autosomal recessive 2 | 242100 |
| ALOXE3 | 117.1 | 1 | 0.99 | Ichthyosis, congenital, autosomal recessive 3 | 606545 |
| ALPL | 135.2 | 1 | 1 | Hypophosphatasia, adult, | 146300 |
| ALPL | 135.2 | 1 | 1 | Hypophosphatasia, childhood, | 241510 |
| ALPL | 135.2 | 1 | 1 | Hypophosphatasia, infantile, | 241500 |
| ALPL | 135.2 | 1 | 1 | Odontohypophosphatasia, | 146300 |
| ALS2 | 144.4 | 1 | 0.99 | Amyotrophic lateral sclerosis 2 juvenile, | 205100 |
| ALS2 | 144.4 | 1 | 0.99 | Primary lateral sclerosis, juvenile, | 606353 |
| ALS2 | 144.4 | 1 | 0.99 | Spastic paralysis, infantile onset ascending, | 607225 |
| ALX3 | 102.9 | 0.82 | 0.69 | Frontonasal dysplasia 1 | 136760 |
| ALX4 | 102.9 | 0.94 | 0.84 | Frontonasal dysplasia 2 | 613451 |
| ALX4 | 102.9 | 0.94 | 0.84 | Parietal foramina 2 | 609597 |
| ALX4 | 102.9 | 0.94 | 0.84 | {Craniosynostosis 5 susceptibility to}, | 615529 |
| AMACR | 130.5 | 1 | 0.99 | Alpha-methylacyl-CoA racemase deficiency, | 614307 |
| AMACR | 130.5 | 1 | 0.99 | Bile acid synthesis defect, congenital, 4 | 214950 |
| AMBN | 142.2 | 0.94 | 0.88 | Amelogenesis imperfecta, type IF, | 616270 |
| AMELX | 99.8 | 1 | 0.99 | Amelogenesis imperfecta, type 1E, | 301200 |
| AMER1 | 108.5 | 1 | 0.99 | Osteopathia striata with cranial sclerosis, | 300373 |
| AMH | 32.1 | 0.96 | 0.67 | Persistent Mullerian duct syndrome, type I, | 261550 |
| AMHR2 | 115.9 | 0.99 | 0.98 | Persistent Mullerian duct syndrome, type II, | 261550 |
| AMN | 51.5 | 0.78 | 0.66 | Megaloblastic anemia-1, Norwegian type, | 261100 |
| AMPD1 | 117.1 | 1 | 1 | Myopathy due to myoadenylate deaminase deficiency, | 615511 |
| AMPD2 | 117.6 | 1 | 0.96 | Pontocerebellar hypoplasia, type 9 | 615809 |
| AMPD2 | 117.6 | 1 | 0.96 | ?Spastic paraplegia 63 | 615686 |
| AMT | 134.3 | 1 | 0.98 | Glycine encephalopathy, | 605899 |
| ANG | 147.9 | 1 | 0.96 | Amyotrophic lateral sclerosis 9 | 611895 |
| ANGPTL3 | 82.2 | 0.92 | 0.88 | Hypobetalipoproteinemia, familial, 2 | 605019 |
| ANK1 | 118.9 | 1 | 0.98 | Spherocytosis, type 1 | 182900 |
| ANK2 | 133.8 | 0.99 | 0.99 | Cardiac arrhythmia, ankyrin-B-related, | 600919 |
| ANK2 | 133.8 | 0.99 | 0.99 | Long QT syndrome 4 | 600919 |
| ANKH | 97.5 | 1 | 1 | Chondrocalcinosis 2 | 118600 |
| ANKH | 97.5 | 1 | 1 | Craniometaphyseal dysplasia, | 123000 |
| ANKK1 | 120 | 1 | 0.98 | Dopamine receptor D2, reduced brain density of, | 608774 |
| ANKRD11 | 87.9 | 0.94 | 0.9 | KBG syndrome, | 148050 |
| ANKRD26 | 71 | 0.88 | 0.74 | Thrombocytopenia 2 | 188000 |
| ANKS6 | 79.4 | 0.91 | 0.84 | Nephronophthisis 16 | 615382 |
| ANLN | 129.3 | 0.98 | 0.91 | Focal segmental glomerulosclerosis 8 | 616032 |
| ANO10 | 102.8 | 1 | 0.95 | Spinocerebellar ataxia, autosomal recessive 10 | 613728 |
| ANO3 | 141.4 | 0.99 | 0.98 | Dystonia 24 | 615034 |
| ANO5 | 128.6 | 0.99 | 0.95 | Gnathodiaphyseal dysplasia, | 166260 |
| ANO5 | 128.6 | 0.99 | 0.95 | Miyoshi muscular dystrophy 3 | 613319 |
| ANO5 | 128.6 | 0.99 | 0.95 | Muscular dystrophy, limb-girdle, type 2L, | 611307 |
| ANO6 | 113.4 | 0.97 | 0.92 | Scott syndrome, | 262890 |
| ANTXR1 | 113.9 | 0.98 | 0.95 | GAPO syndrome, | 230740 |
| ANTXR1 | 113.9 | 0.98 | 0.95 | {Hemangioma, capillary infantile, susceptibility to}, | 602089 |
| ANTXR2 | 79.9 | 1 | 0.9 | Hyaline fibromatosis syndrome, | 228600 |
| AP1S1 | 104.8 | 1 | 0.99 | MEDNIK syndrome, | 609313 |
| AP1S2 | 77.4 | 0.74 | 0.7 | Mental retardation, X-linked syndromic 5 | 304340 |
| AP2S1 | 132.4 | 0.88 | 0.88 | Hypocalciuric hypercalcemia, familial, type III, | 600740 |
| AP3B1 | 90 | 0.93 | 0.86 | Hermansky-Pudlak syndrome 2 | 608233 |
| AP4B1 | 131.8 | 0.99 | 0.97 | Spastic paraplegia 47 autosomal recessive, | 614066 |
| AP4E1 | 95.1 | 1 | 0.98 | Spastic paraplegia 51 autosomal recessive, | 613744 |
| AP4E1 | 95.1 | 1 | 0.98 | Stuttering, familial persistent, 1 | 184450 |
| AP4M1 | 98.9 | 0.99 | 0.97 | Spastic paraplegia 50 autosomal recessive, | 612936 |
| AP4S1 | 58.7 | 0.68 | 0.68 | Spastic paraplegia 52 autosomal recessive, | 614067 |
| AP5Z1 | 78.1 | 1 | 0.99 | Spastic paraplegia 48 autosomal recessive, | 613647 |
| APC | 143 | 1 | 0.99 | Adenoma, periampullary, somatic | 613647 |
| APC | 143 | 1 | 0.99 | Adenomatous polyposis coli, | 175100 |
| APC | 143 | 1 | 0.99 | Brain tumor-polyposis syndrome 2 | 175100 |
| APC | 143 | 1 | 0.99 | Colorectal cancer, somatic, | 114500 |
| APC | 143 | 1 | 0.99 | Desmoid disease, hereditary, | 135290 |
| APC | 143 | 1 | 0.99 | Gardner syndrome, | 175100 |
| APC | 143 | 1 | 0.99 | Gastric cancer, somatic, | 613659 |
| APC | 143 | 1 | 0.99 | Hepatoblastoma, somatic, | 114550 |
| APCDD1 | 132 | 0.98 | 0.93 | Hypotrichosis 1 | 605389 |
| APOA1 | 81.5 | 1 | 1 | Amyloidosis, 3 or more types, | 105200 |
| APOA1 | 81.5 | 1 | 1 | ApoA-I and apoC-III deficiency, combined | 105200 |
| APOA1 | 81.5 | 1 | 1 | Corneal clouding, autosomal recessive | 105200 |
| APOA1 | 81.5 | 1 | 1 | Hypoalphalipoproteinemia, | 604091 |
| APOA2 | 103.4 | 0.81 | 0.81 | Apolipoprotein A-II deficiency, | 107670 |
| APOA2 | 103.4 | 0.81 | 0.81 | {Hypercholesterolemia, familial, modifier of}, | 143890 |
| APOA5 | 121.2 | 1 | 1 | Hyperchylomicronemia, late-onset, | 144650 |
| APOA5 | 121.2 | 1 | 1 | {Hypertriglyceridemia, susceptibility to}, | 145750 |
| APOB | 166 | 0.99 | 0.99 | Hypercholesterolemia, due to ligand-defective apo B, | 144010 |
| APOB | 166 | 0.99 | 0.99 | Hypobetalipoproteinemia, | 615558 |
| APOC2 | 83.2 | 1 | 1 | Hyperlipoproteinemia, type Ib, | 207750 |
| APOC3 | 75.8 | 1 | 1 | Apolipoprotein C-III deficiency, | 614028 |
| APOE | 50.3 | 0.96 | 0.85 | Alzheimer disease-2, | 104310 |
| APOE | 50.3 | 0.96 | 0.85 | Hyperlipoproteinemia, type III | 104310 |
| APOE | 50.3 | 0.96 | 0.85 | Lipoprotein glomerulopathy, | 611771 |
| APOE | 50.3 | 0.96 | 0.85 | Sea-blue histiocyte disease, | 269600 |
| APOE | 50.3 | 0.96 | 0.85 | {?Macular degeneration, age-related}, | 603075 |
| APOE | 50.3 | 0.96 | 0.85 | {Myocardial infarction susceptibility} | 603075 |
| APOPT1 | 69.1 | 0.87 | 0.86 | Mitochondrial complex IV deficiency, | 220110 |
| APP | 133.9 | 1 | 1 | Alzheimer disease 1 familial, | 104300 |
| APP | 133.9 | 1 | 1 | Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, | 605714 |
| APRT | 56.4 | 1 | 1 | Adenine phosphoribosyltransferase deficiency, | 614723 |
| APTX | 108.5 | 0.94 | 0.91 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, | 208920 |
| AQP2 | 109.4 | 1 | 0.93 | Diabetes insipidus, nephrogenic, | 125800 |
| AQP5 | 94.5 | 0.98 | 0.93 | Palmoplantar keratoderma, Bothnian type, | 600231 |
| AR | 91.4 | 0.94 | 0.89 | Androgen insensitivity, | 300068 |
| AR | 91.4 | 0.94 | 0.89 | Androgen insensitivity, partial, with or without breast cancer, | 312300 |
| AR | 91.4 | 0.94 | 0.89 | Hypospadias 1 X-linked, | 300633 |
| AR | 91.4 | 0.94 | 0.89 | Spinal and bulbar muscular atrophy of Kennedy, | 313200 |
| AR | 91.4 | 0.94 | 0.89 | {Prostate cancer, susceptibility to}, | 176807 |
| ARFGEF2 | 140.9 | 0.99 | 0.98 | Periventricular heterotopia with microcephaly, | 608097 |
| ARG1 | 131 | 1 | 1 | Argininemia, | 207800 |
| ARHGAP26 | 126.8 | 1 | 1 | Leukemia, juvenile myelomonocytic, somatic, | 607785 |
| ARHGAP31 | 98.4 | 0.99 | 0.97 | Adams-Oliver syndrome 1 | 100300 |
| ARHGDIA | 121.4 | 1 | 1 | Nephrotic syndrome, type 8 | 615244 |
| ARHGEF6 | 169.9 | 0.95 | 0.93 | Mental retardation, X-linked 46 | 300436 |
| ARHGEF9 | 106.1 | 1 | 0.99 | Epileptic encephalopathy, early infantile, 8 | 300607 |
| ARID1A | 112.7 | 0.93 | 0.88 | Coffin-Siris syndrome 2 | 614607 |
| ARID1B | 121.6 | 0.92 | 0.87 | Coffin-Siris syndrome 1 | 135900 |
| ARL13B | 88.6 | 1 | 0.91 | Joubert syndrome 8 | 612291 |
| ARL2BP | 63.3 | 0.86 | 0.76 | Retinitis pigmentosa with or without situs inversus, | 615434 |
| ARL6 | 85.2 | 0.99 | 0.93 | Bardet-Biedl syndrome 3 | 600151 |
| ARL6 | 85.2 | 0.99 | 0.93 | ?Retinitis pigmentosa 55 | 613575 |
| ARL6 | 85.2 | 0.99 | 0.93 | {Bardet-Biedl syndrome 1 modifier of}, | 209900 |
| ARMC4 | 113.7 | 0.9 | 0.89 | Ciliary dyskinesia, primary, 23 | 615451 |
| ARMC5 | 99.8 | 1 | 0.99 | ACTH-independent macronodular adrenal hyperplasia 2 | 615954 |
| ARSA | 91.7 | 1 | 1 | Metachromatic leukodystrophy, | 250100 |
| ARSB | 115.5 | 0.98 | 0.94 | Mucopolysaccharidosis type VI (Maroteaux-Lamy), | 253200 |
| ARSE | 109.5 | 1 | 0.98 | Chondrodysplasia punctata, X-linked recessive, | 302950 |
| ARV1 | 122.2 | 1 | 0.98 | Epileptic encephalopathy, early infantile, 38 | 617020 |
| ARX | 38.5 | 0.87 | 0.73 | Epileptic encephalopathy, early infantile, 1 | 308350 |
| ARX | 38.5 | 0.87 | 0.73 | Hydranencephaly with abnormal genitalia, | 300215 |
| ARX | 38.5 | 0.87 | 0.73 | Lissencephaly, X-linked 2 | 300215 |
| ARX | 38.5 | 0.87 | 0.73 | Mental retardation, X-linked 29 and others, | 300419 |
| ARX | 38.5 | 0.87 | 0.73 | Partington syndrome, | 309510 |
| ARX | 38.5 | 0.87 | 0.73 | Proud syndrome, | 300004 |
| ASAH1 | 109.1 | 0.99 | 0.84 | Farber lipogranulomatosis, | 228000 |
| ASAH1 | 109.1 | 0.99 | 0.84 | Spinal muscular atrophy with progressive myoclonic epilepsy, | 159950 |
| ASB10 | 97 | 1 | 0.99 | Glaucoma 1 open angle, F, | 603383 |
| ASCC1 | 141.7 | 0.93 | 0.91 | Barrett esophagus/esophageal adenocarcinoma, | 614266 |
| ASCC1 | 141.7 | 0.93 | 0.91 | ?Spinal muscular atrophy with congenital bone fractures 2, | 616867 |
| ASCL1 | 155.3 | 0.79 | 0.73 | Central hypoventilation syndrome, congenital, | 209880 |
| ASCL1 | 155.3 | 0.79 | 0.73 | Haddad syndrome, | 209880 |
| ASL | 91.7 | 1 | 0.98 | Argininosuccinic aciduria, | 207900 |
| ASNS | 85.2 | 0.97 | 0.87 | Asparagine synthetase deficiency, | 615574 |
| ASPA | 112.6 | 0.97 | 0.91 | Canavan disease, | 271900 |
| ASPH | 105.2 | 0.97 | 0.91 | Traboulsi syndrome, | 601552 |
| ASPM | 94.8 | 0.97 | 0.91 | Microcephaly 5 primary, autosomal recessive, | 608716 |
| ASPSCR1 | 83.6 | 1 | 0.96 | Alveolar soft-part sarcoma, | 606243 |
| ASS1 | 81.1 | 0.98 | 0.89 | Citrullinemia, | 215700 |
| ASXL1 | 135.3 | 0.99 | 0.98 | Bohring-Opitz syndrome, | 605039 |
| ASXL1 | 135.3 | 0.99 | 0.98 | Myelodysplastic syndrome, somatic, | 614286 |
| ASXL3 | 139.1 | 0.99 | 0.98 | Bainbridge-Ropers syndrome, | 615485 |
| ATCAY | 136.6 | 1 | 0.99 | Ataxia, cerebellar, Cayman type, | 601238 |
| ATF6 | 122.4 | 1 | 0.99 | Achromatopsia 7 | 616517 |
| ATIC | 104.3 | 1 | 0.98 | AICA-ribosiduria due to ATIC deficiency, | 608688 |
| ATL1 | 162.1 | 0.99 | 0.93 | Neuropathy, hereditary sensory, type ID, | 613708 |
| ATL1 | 162.1 | 0.99 | 0.93 | Spastic paraplegia 3A, autosomal dominant, | 182600 |
| ATL3 | 110.4 | 0.96 | 0.93 | Neuropathy, hereditary sensory, type IF, | 615632 |
| ATM | 101.4 | 0.98 | 0.92 | Ataxia-telangiectasia, | 208900 |
| ATM | 101.4 | 0.98 | 0.92 | Lymphoma, B-cell non-Hodgkin, somatic | 208900 |
| ATM | 101.4 | 0.98 | 0.92 | Lymphoma, mantle cell, somatic | 208900 |
| ATM | 101.4 | 0.98 | 0.92 | T-cell prolymphocytic leukemia, somatic | 208900 |
| ATM | 101.4 | 0.98 | 0.92 | {Breast cancer, susceptibility to}, | 114480 |
| ATN1 | 98.3 | 0.98 | 0.94 | Dentatorubro-pallidoluysian atrophy, | 125370 |
| ATOH7 | 82.8 | 0.91 | 0.8 | Persistent hyperplastic primary vitreous, autosomal recessive, | 221900 |
| ATP13A2 | 106.7 | 1 | 0.98 | Kufor-Rakeb syndrome, | 606693 |
| ATP13A2 | 106.7 | 1 | 0.98 | ?Ceroid lipofuscinosis, neuronal, 12 | 606693 |
| ATP1A2 | 170.2 | 1 | 1 | Alternating hemiplegia of childhood, | 104290 |
| ATP1A2 | 170.2 | 1 | 1 | Migraine, familial basilar, | 602481 |
| ATP1A2 | 170.2 | 1 | 1 | Migraine, familial hemiplegic, 2 | 602481 |
| ATP1A3 | 161.8 | 1 | 1 | Alternating hemiplegia of childhood 2 | 614820 |
| ATP1A3 | 161.8 | 1 | 1 | CAPOS syndrome, | 601338 |
| ATP1A3 | 161.8 | 1 | 1 | Dystonia-12, | 128235 |
| ATP2A1 | 136.4 | 1 | 1 | Brody myopathy, | 601003 |
| ATP2A2 | 153.1 | 1 | 0.98 | Acrokeratosis verruciformis, | 101900 |
| ATP2A2 | 153.1 | 1 | 0.98 | Darier disease, | 124200 |
| ATP2C1 | 113.4 | 1 | 0.97 | Hailey-Hailey disease, | 169600 |
| ATP6AP1 | 128.2 | 1 | 1 | Immunodeficiency 47 | 300972 |
| ATP6V0A2 | 122.9 | 1 | 1 | Cutis laxa, autosomal recessive, type IIA, | 219200 |
| ATP6V0A2 | 122.9 | 1 | 1 | Wrinkly skin syndrome, | 278250 |
| ATP6V0A4 | 108.7 | 0.99 | 0.97 | Renal tubular acidosis, distal, autosomal recessive, | 602722 |
| ATP6V1B1 | 158.9 | 1 | 1 | Renal tubular acidosis with deafness, | 267300 |
| ATP6V1B2 | 133.9 | 1 | 0.99 | Deafness, congenital, with onychodystrophy, autosomal dominant, | 124480 |
| ATP6V1B2 | 133.9 | 1 | 0.99 | Zimmermann-Laband syndrome 2 | 616455 |
| ATP7A | 159.5 | 0.99 | 0.98 | Menkes disease, | 309400 |
| ATP7A | 159.5 | 0.99 | 0.98 | Occipital horn syndrome, | 304150 |
| ATP7A | 159.5 | 0.99 | 0.98 | Spinal muscular atrophy, distal, X-linked 3 | 300489 |
| ATP7B | 134.6 | 1 | 0.98 | Wilson disease, | 277900 |
| ATP8B1 | 133.1 | 0.96 | 0.93 | Cholestasis, benign recurrent intrahepatic, | 243300 |
| ATP8B1 | 133.1 | 0.96 | 0.93 | Cholestasis, intrahepatic, of pregnancy, 1 | 147480 |
| ATP8B1 | 133.1 | 0.96 | 0.93 | Cholestasis, progressive familial intrahepatic 1 | 211600 |
| ATPAF2 | 90.3 | 1 | 0.98 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | 604273 |
| ATR | 129 | 0.98 | 0.95 | Seckel syndrome 1 | 210600 |
| ATR | 129 | 0.98 | 0.95 | ?Cutaneous telangiectasia and cancer syndrome, familial, | 614564 |
| ATRX | 96.7 | 0.99 | 0.97 | Alpha-thalassemia myelodysplasia syndrome, somatic, | 300448 |
| ATRX | 96.7 | 0.99 | 0.97 | Alpha-thalassemia/mental retardation syndrome, | 301040 |
| ATRX | 96.7 | 0.99 | 0.97 | Mental retardation-hypotonic facies syndrome, X-linked, | 309580 |
| ATXN1 | 125.8 | 1 | 1 | Spinocerebellar ataxia 1 | 164400 |
| ATXN10 | 133.1 | 0.95 | 0.92 | Spinocerebellar ataxia 10 | 603516 |
| ATXN2 | 87.7 | 0.91 | 0.79 | Spinocerebellar ataxia 2 | 183090 |
| ATXN2 | 87.7 | 0.91 | 0.79 | {Amyotrophic lateral sclerosis, susceptibility to, 13}, | 183090 |
| ATXN2 | 87.7 | 0.91 | 0.79 | {Parkinson disease, late-onset, susceptibility to}, | 168600 |
| ATXN3 | 92.8 | 0.98 | 0.9 | Machado-Joseph disease, | 109150 |
| ATXN7 | 110.3 | 0.95 | 0.91 | Spinocerebellar ataxia 7 | 164500 |
| ATXN7 | 110.3 | 0.95 | 0.91 | ATXN8OS NC NC NC Spinocerebellar ataxia 8 | 608768 |
| AUH | 75.2 | 1 | 0.95 | 3-methylglutaconic aciduria, type I, | 250950 |
| AURKC | 75 | 0.99 | 0.94 | Spermatogenic failure 5,24306 | 250950 |
| AUTS2 | 89.7 | 0.96 | 0.93 | Mental retardation, autosomal dominant 26, | 615834 |
| AVP | 35.3 | 0.84 | 0.37 | Diabetes insipidus, neurohypophyseal, | 125700 |
| AVPR2 | 139.2 | 1 | 0.97 | Diabetes insipidus, nephrogenic, | 304800 |
| AVPR2 | 139.2 | 1 | 0.97 | Nephrogenic syndrome of inappropriate antidiuresis, | 300539 |
| AXIN1 | 130.6 | 0.99 | 0.97 | Hepatocellular carcinoma, somatic, | 114550 |
| AXIN1 | 130.6 | 0.99 | 0.97 | ?Caudal duplication anomaly, | 607864 |
| AXIN2 | 102.6 | 1 | 0.98 | Colorectal cancer, somatic, | 114500 |
| AXIN2 | 102.6 | 1 | 0.98 | Oligodontia-colorectal cancer syndrome, | 608615 |
| B2M | 276.5 | 1 | 1 | Immunodeficiency 43 | 241600 |
| B2M | 276.5 | 1 | 1 | ?Amyloidosis, familial visceral, | 105200 |
| B3GALNT2 | 102.7 | 0.92 | 0.91 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 | 615181 |
| B3GALT6 | 47.2 | 0.74 | 0.69 | Ehlers-Danlos syndrome, progeroid type, 2 | 615349 |
| B3GALT6 | 47.2 | 0.74 | 0.69 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1 with or without fractures, | 271640 |
| B3GALTL | 81.5 | 0.92 | 0.86 | Peters-plus syndrome, | 261540 |
| B3GAT3 | 79.7 | 1 | 0.92 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart | 261540 |
| B3GAT3 | 79.7 | 1 | 0.92 | defects, | 245600 |
| B3GNT1 | 103 | 1 | 1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 | 615287 |
| B4GALNT1 | 122.6 | 0.99 | 0.9 | Spastic paraplegia 26 autosomal recessive, | 609195 |
| B4GALT1 | 114.6 | 1 | 0.98 | Congenital disorder of glycosylation, type IId, | 607091 |
| B4GALT7 | 84.2 | 0.99 | 0.94 | Ehlers-Danlos syndrome with short stature and limb anomalies, | 130070 |
| B9D2 | 82.6 | 1 | 1 | Meckel syndrome 10 | 614175 |
| BAAT | 112.3 | 0.97 | 0.93 | Hypercholanemia, familial, | 607748 |
| BAG3 | 110.6 | 1 | 0.98 | Cardiomyopathy, dilated, 1HH, | 613881 |
| BAG3 | 110.6 | 1 | 0.98 | Myopathy, myofibrillar, 6 | 612954 |
| BANF1 | 60 | 0.99 | 0.95 | Nestor-Guillermo progeria syndrome, | 614008 |
| BAP1 | 118.9 | 1 | 0.98 | Tumor predisposition syndrome, | 614327 |
| BAX | 70.4 | 0.85 | 0.84 | Colorectal cancer, somatic, | 114500 |
| BAX | 70.4 | 0.85 | 0.84 | T-cell acute lymphoblastic leukemia, somatic, | 613065 |
| BBS1 | 134 | 1 | 1 | Bardet-Biedl syndrome 1 | 209900 |
| BBS10 | 143.8 | 1 | 0.99 | Bardet-Biedl syndrome 10 | 615987 |
| BBS12 | 175.6 | 1 | 1 | Bardet-Biedl syndrome 12 | 615989 |
| BBS2 | 168.7 | 1 | 1 | Bardet-Biedl syndrome 2 | 615981 |
| BBS2 | 168.7 | 1 | 1 | Retinitis pigmentosa 74 | 616562 |
| BBS4 | 129.9 | 1 | 0.98 | Bardet-Biedl syndrome 4 | 615982 |
| BBS5 | 104 | 0.96 | 0.9 | Bardet-Biedl syndrome 5 | 615983 |
| BBS7 | 113.1 | 0.93 | 0.87 | Bardet-Biedl syndrome 7 | 615984 |
| BBS9 | 96.9 | 0.95 | 0.92 | Bardet-Biedl syndrome 9 | 615986 |
| BCAP31 | 77.9 | 0.99 | 0.92 | Deafness, dystonia, and cerebral hypomyelination, | 300475 |
| BCHE | 147 | 1 | 0.98 | Apnea, postanesthetic, | 177400 |
| BCKDHA | 140.4 | 1 | 0.98 | Maple syrup urine disease, type Ia, | 248600 |
| BCKDHB | 93.9 | 0.93 | 0.9 | Maple syrup urine disease, type Ib, | 248600 |
| BCKDK | 144 | 1 | 1 | Branched-chain ketoacid dehydrogenase kinase deficiency, | 614923 |
| BCL10 | 82.6 | 1 | 0.98 | Lymphoma, MALT, somatic, | 137245 |
| BCL10 | 82.6 | 1 | 0.98 | ?Immunodeficiency 37 | 616098 |
| BCL10 | 82.6 | 1 | 0.98 | {Lymphoma, follicular, somatic}, | 605027 |
| BCL10 | 82.6 | 1 | 0.98 | {Male germ cell tumor, somatic}, | 273300 |
| BCL10 | 82.6 | 1 | 0.98 | {Mesothelioma, somatic}, | 156240 |
| BCL10 | 82.6 | 1 | 0.98 | {Sezary syndrome, somatic}, | 156240 |
| BCL11A | 121.7 | 0.98 | 0.97 | Intellectual development disorder with persistence of fetal hemoglobin, | 617101 |
| BCL2 | 109.5 | 1 | 0.9 | Leukemia/lymphoma, B-cell, 2 | 151430 |
| BCL7A | 127 | 1 | 1 | B-cell non-Hodgkin lymphoma, high-grade | 151430 |
| BCMO1 | 151.4 | 1 | 1 | Hypercarotenemia and vitamin A deficiency, autosomal dominant, | 115300 |
| BCOR | 135.5 | 1 | 0.98 | Microphthalmia, syndromic 2 | 300166 |
| BCR | 93.8 | 0.88 | 0.82 | Leukemia, acute lymphocytic, somatic, | 613065 |
| BCR | 93.8 | 0.88 | 0.82 | Leukemia, chronic myeloid, somatic, | 608232 |
| BCS1L | 145.9 | 1 | 1 | Bjornstad syndrome, | 262000 |
| BCS1L | 145.9 | 1 | 1 | GRACILE syndrome, | 603358 |
| BCS1L | 145.9 | 1 | 1 | Leigh syndrome, | 256000 |
| BCS1L | 145.9 | 1 | 1 | Mitochondrial complex III deficiency, nuclear type 1 | 124000 |
| BDNF | 152.9 | 1 | 1 | Central hypoventilation syndrome, congenital, | 209880 |
| BDNF | 152.9 | 1 | 1 | {Anorexia nervosa, susceptibility to}, | 610269 |
| BDNF | 152.9 | 1 | 1 | {Bulimia nervosa, age of onset of weight loss in}, | 607499 |
| BDNF | 152.9 | 1 | 1 | {Memory impairment, susceptibility to} | 607499 |
| BDNF | 152.9 | 1 | 1 | {Obsessive-compulsive disorder, protection against}, | 164230 |
| BEAN1 | 102.6 | 0.97 | 0.87 | Spinocerebellar ataxia 31,11721 | 164230 |
| BEST1 | 120.9 | 0.97 | 0.92 | Bestrophinopathy, autosomal recessive, | 611809 |
| BEST1 | 120.9 | 0.97 | 0.92 | Macular dystrophy, vitelliform, 2 | 153700 |
| BEST1 | 120.9 | 0.97 | 0.92 | Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, | 193220 |
| BEST1 | 120.9 | 0.97 | 0.92 | Retinitis pigmentosa, concentric, | 613194 |
| BEST1 | 120.9 | 0.97 | 0.92 | Retinitis pigmentosa-50, | 613194 |
| BEST1 | 120.9 | 0.97 | 0.92 | Vitreoretinochoroidopathy, | 193220 |
| BFSP1 | 90.5 | 0.99 | 0.85 | Cataract 33 | 611391 |
| BFSP2 | 78.8 | 0.97 | 0.94 | Cataract 12 multiple types, | 611597 |
| BGN | 136.1 | 1 | 1 | Spondyloepimetaphyseal dysplasia, X-linked, | 300106 |
| BHLHA9 | 12.2 | 0.51 | 0.37 | Syndactyly, mesoaxial synostotic, with phalangeal reduction, | 609432 |
| BHLHA9 | 12.2 | 0.51 | 0.37 | ?Camptosynpolydactyly, complex, | 607539 |
| BICD2 | 125.6 | 0.99 | 0.99 | Spinal muscular atrophy, lower extremity-predominant, 2 AD, | 615290 |
| BIN1 | 98.2 | 1 | 0.93 | Myopathy, centronuclear, autosomal recessive, | 255200 |
| BLK | 95.6 | 1 | 1 | Maturity-onset diabetes of the young, type 11 | 613375 |
| BLM | 118.7 | 0.98 | 0.94 | Bloom syndrome, | 210900 |
| BLNK | 96.2 | 0.92 | 0.88 | Agammaglobulinemia 4 | 613502 |
| BLOC1S3 | 32.8 | 0.95 | 0.7 | Hermansky-Pudlak syndrome 8 | 614077 |
| BLOC1S6 | 72.6 | 0.98 | 0.84 | Hermansky-pudlak syndrome 9 | 614171 |
| BLVRA | 112.3 | 1 | 0.96 | Hyperbiliverdinemia, | 614156 |
| BMP1 | 126.9 | 1 | 0.99 | Osteogenesis imperfecta, type XIII, | 614856 |
| BMP15 | 129.3 | 1 | 1 | Ovarian dysgenesis 2 | 300510 |
| BMP15 | 129.3 | 1 | 1 | Premature ovarian failure 4 | 300510 |
| BMP2 | 166.6 | 1 | 1 | Brachydactyly, type A2, | 112600 |
| BMP2 | 166.6 | 1 | 1 | {HFE hemochromatosis, modifier of}, | 235200 |
| BMP4 | 127.2 | 1 | 0.99 | Microphthalmia, syndromic 6 | 607932 |
| BMP4 | 127.2 | 1 | 0.99 | Orofacial cleft 11 | 600625 |
| BMPER | 137 | 1 | 0.97 | Diaphanospondylodysostosis, | 608022 |
| BMPR1A | 105.6 | 1 | 0.96 | Juvenile polyposis syndrome, infantile form, | 174900 |
| BMPR1A | 105.6 | 1 | 0.96 | Polyposis syndrome, hereditary mixed, 2 | 610069 |
| BMPR1A | 105.6 | 1 | 0.96 | Polyposis, juvenile intestinal, | 174900 |
| BMPR1B | 157.2 | 1 | 1 | Acromesomelic dysplasia, Demirhan type, | 609441 |
| BMPR1B | 157.2 | 1 | 1 | Brachydactyly, type A1, D, | 616849 |
| BMPR1B | 157.2 | 1 | 1 | Brachydactyly, type A2, | 112600 |
| BMPR2 | 167.3 | 1 | 1 | Pulmonary hypertension, familial primary, 1 with or without HHT, | 178600 |
| BMPR2 | 167.3 | 1 | 1 | Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, | 178600 |
| BMPR2 | 167.3 | 1 | 1 | Pulmonary venoocclusive disease 1 | 265450 |
| BOLA3 | 44.3 | 0.94 | 0.76 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, | 614299 |
| BPGM | 98.9 | 1 | 1 | Erythrocytosis due to bisphosphoglycerate mutase deficiency, | 222800 |
| BRAF | 64.8 | 0.85 | 0.76 | Adenocarcinoma of lung, somatic, | 211980 |
| BRAF | 64.8 | 0.85 | 0.76 | Cardiofaciocutaneous syndrome, | 115150 |
| BRAF | 64.8 | 0.85 | 0.76 | Colorectal cancer, somatic | 115150 |
| BRAF | 64.8 | 0.85 | 0.76 | LEOPARD syndrome 3 | 613707 |
| BRAF | 64.8 | 0.85 | 0.76 | Melanoma, malignant, somatic | 613707 |
| BRAF | 64.8 | 0.85 | 0.76 | Nonsmall cell lung cancer, somatic | 613707 |
| BRAF | 64.8 | 0.85 | 0.76 | Noonan syndrome 7 | 613706 |
| BRAT1 | 87.3 | 1 | 0.96 | Rigidity and multifocal seizure syndrome, lethal neonatal, | 614498 |
| BRCA2 | 89.3 | 0.97 | 0.95 | Fanconi anemia, complementation group D1, | 605724 |
| BRCA2 | 89.3 | 0.97 | 0.95 | Wilms tumor, | 194070 |
| BRCA2 | 89.3 | 0.97 | 0.95 | {Breast cancer, male, susceptibility to}, | 114480 |
| BRCA2 | 89.3 | 0.97 | 0.95 | {Breast-ovarian cancer, familial, 2}, | 612555 |
| BRCA2 | 89.3 | 0.97 | 0.95 | {Glioblastoma 3}, | 613029 |
| BRCA2 | 89.3 | 0.97 | 0.95 | {Medulloblastoma}, | 155255 |
| BRCA2 | 89.3 | 0.97 | 0.95 | {Pancreatic cancer 2}, | 613347 |
| BRCA2 | 89.3 | 0.97 | 0.95 | {Prostate cancer}, | 176807 |
| BRF1 | 91.2 | 0.95 | 0.89 | Cerebellofaciodental syndrome, | 616202 |
| BRIP1 | 114.3 | 1 | 0.96 | Breast cancer, early-onset, | 114480 |
| BRIP1 | 114.3 | 1 | 0.96 | Fanconi anemia, complementation group J, | 609054 |
| BRWD3 | 126.1 | 0.98 | 0.95 | Mental retardation, X-linked 93 | 300659 |
| BSCL2 | 99.3 | 1 | 1 | Encephalopathy, progressive, with or without lipodystrophy, | 615924 |
| BSCL2 | 99.3 | 1 | 1 | Lipodystrophy, congenital generalized, type 2 | 269700 |
| BSCL2 | 99.3 | 1 | 1 | Neuropathy, distal hereditary motor, type VA, | 600794 |
| BSCL2 | 99.3 | 1 | 1 | Silver spastic paraplegia syndrome, | 270685 |
| BSND | 135.5 | 1 | 0.99 | Bartter syndrome, type 4a, | 602522 |
| BSND | 135.5 | 1 | 0.99 | Sensorineural deafness with mild renal dysfunction, | 602522 |
| BTD | 125.5 | 1 | 0.98 | Biotinidase deficiency, | 253260 |
| BTK | 158.3 | 1 | 1 | Agammaglobulinemia and isolated hormone deficiency, | 307200 |
| BTK | 158.3 | 1 | 1 | Agammaglobulinemia, X-linked 1 | 300755 |
| BUB1 | 126.5 | 0.99 | 0.94 | Colorectal cancer with chromosomal instability, somatic | 300755 |
| BUB1B | 144.3 | 0.98 | 0.97 | Colorectal cancer, somatic, | 114500 |
| BUB1B | 144.3 | 0.98 | 0.97 | Mosaic variegated aneuploidy syndrome 1 | 257300 |
| BUB1B | 144.3 | 0.98 | 0.97 | [Premature chromatid separation trait], | 176430 |
| C10orf11 | 128.5 | 0.99 | 0.99 | Albinism, oculocutaneous, type VII, | 615179 |
| C10orf2 | 152.5 | 1 | 1 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), | 271245 |
| C10orf2 | 152.5 | 1 | 1 | Perrault syndrome 5 | 616138 |
| C10orf2 | 152.5 | 1 | 1 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 609286 |
| C11orf73 | 52 | 0.93 | 0.76 | Leukodystrophy,hypomyelinating,13, | 616881 |
| C12orf57 | 126.7 | 1 | 1 | Temtamy syndrome, | 218340 |
| C12orf65 | 80.1 | 0.97 | 0.91 | Combined oxidative phosphorylation deficiency 7 | 613559 |
| C12orf65 | 80.1 | 0.97 | 0.91 | Spastic paraplegia 55 autosomal recessive, | 615035 |
| C15orf41 | 117.6 | 1 | 0.99 | Dyserythropoietic anemia, congenital, type Ib, | 615631 |
| C19orf12 | 92.2 | 1 | 0.99 | Neurodegeneration with brain iron accumulation 4 | 614298 |
| C19orf12 | 92.2 | 1 | 0.99 | ?Spastic paraplegia 43 autosomal recessive, | 615043 |
| C1GALT1C1 | 146.2 | 1 | 1 | Tn polyagglutination syndrome, somatic, | 300622 |
| C1QA | 101.1 | 1 | 0.98 | C1q deficiency, | 613652 |
| C1QB | 151.4 | 1 | 1 | C1q deficiency, | 613652 |
| C1QC | 192.1 | 1 | 1 | C1q deficiency, | 613652 |
| C1QTNF5 | 111.5 | 0.85 | 0.67 | Retinal degeneration, late-onset, autosomal dominant, | 605670 |
| C1S | 126 | 1 | 1 | C1s deficiency, | 613783 |
| C2 | 13.7 | 0.5 | 0.17 | C2 deficiency, | 217000 |
| C2 | 13.7 | 0.5 | 0.17 | {Macular degeneration, age-related, 14 reduced risk of}, | 615489 |
| C21orf59 | 124.9 | 1 | 0.99 | Ciliary dyskinesia, primary, 26 | 615500 |
| C2orf71 | 105.9 | 0.99 | 0.97 | Retinitis pigmentosa 54 | 613428 |
| C3 | 135.2 | 1 | 0.99 | C3 deficiency, | 613779 |
| C3 | 135.2 | 1 | 0.99 | {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, | 612925 |
| C3 | 135.2 | 1 | 0.99 | {Macular degeneration, age-related, 9}, | 611378 |
| C4A | 17.6 | 0.66 | 0.31 | C4a deficiency, | 614380 |
| C4A | 17.6 | 0.66 | 0.31 | [Blood group, Rodgers], | 614374 |
| C4B | 14 | 0.61 | 0.17 | C4B deficiency, | 614379 |
| C4orf26 | 177.7 | 1 | 1 | Amelogenesis imperfecta, type IIA4, | 614832 |
| C5 | 121.5 | 0.96 | 0.91 | C5 deficiency, | 609536 |
| C5 | 121.5 | 0.96 | 0.91 | [Eculizumab, poor response to], | 615749 |
| C5orf42 | 112.4 | 0.98 | 0.94 | Joubert syndrome 17 | 614615 |
| C5orf42 | 112.4 | 0.98 | 0.94 | Orofaciodigital syndrome VI, | 277170 |
| C6 | 145.5 | 1 | 0.99 | C6 deficiency, | 612446 |
| C6 | 145.5 | 1 | 0.99 | Combined C6/C7 deficiency | 612446 |
| C7 | 126.2 | 1 | 0.9 | C7 deficiency, | 610102 |
| C7orf10 | 112.5 | 0.95 | 0.91 | Glutaric aciduria III, | 231690 |
| C8A | 102.6 | 1 | 0.99 | C8 deficiency, type I, | 613790 |
| C8B | 120.4 | 1 | 0.98 | C8 deficiency, type II, | 613789 |
| C8orf37 | 100.1 | 1 | 0.99 | Cone-rod dystrophy 16 | 614500 |
| C8orf37 | 100.1 | 1 | 0.99 | Retinitis pigmentosa 64 | 614500 |
| C9 | 126.8 | 1 | 0.99 | C9 deficiency, | 613825 |
| C9 | 126.8 | 1 | 0.99 | {Macular degeneration, age-related, 15 susceptibility to}, | 615591 |
| C9orf72 | 104.5 | 1 | 0.95 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | 105550 |
| CA12 | 103.4 | 1 | 1 | Hyperchlorhidrosis, isolated, | 143860 |
| CA2 | 126.8 | 1 | 0.97 | Osteopetrosis, autosomal recessive 3 with renal tubular acidosis, | 259730 |
| CA4 | 133 | 1 | 0.98 | Retinitis pigmentosa 17 | 600852 |
| CA5A | 97.7 | 1 | 0.94 | Hyperammonemia due to carbonic anhydrase VA deficiency, | 615751 |
| CA8 | 95.6 | 0.94 | 0.89 | Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 | 613227 |
| CABP2 | 76.5 | 0.99 | 0.95 | Deafness, autosomal recessive 93 | 614899 |
| CABP4 | 93.4 | 1 | 0.99 | Cone-rod synaptic disorder, congenital nonprogressive, | 610427 |
| CACNA1A | 82.3 | 0.94 | 0.89 | Episodic ataxia, type 2 | 108500 |
| CACNA1A | 82.3 | 0.94 | 0.89 | Migraine, familial hemiplegic, 1 | 141500 |
| CACNA1A | 82.3 | 0.94 | 0.89 | Migraine, familial hemiplegic, 1 with progressive cerebellar ataxia, | 141500 |
| CACNA1A | 82.3 | 0.94 | 0.89 | Spinocerebellar ataxia 6 | 183086 |
| CACNA1C | 134.1 | 1 | 0.98 | Brugada syndrome 3 | 611875 |
| CACNA1C | 134.1 | 1 | 0.98 | Timothy syndrome, | 601005 |
| CACNA1D | 135.8 | 1 | 0.99 | Primary aldosteronism, seizures, and neurologic abnormalities, | 615474 |
| CACNA1D | 135.8 | 1 | 0.99 | Sinoatrial node dysfunction and deafness, | 614896 |
| CACNA1F | 115.3 | 1 | 0.98 | Aland Island eye disease, | 300600 |
| CACNA1F | 115.3 | 1 | 0.98 | Cone-rod dystrophy, X-linked, 3 | 300476 |
| CACNA1F | 115.3 | 1 | 0.98 | Night blindness, congenital stationary (incomplete), 2A, X-linked, | 300071 |
| CACNA1G | 115.8 | 0.99 | 0.97 | Spinocerebellar ataxia 42 | 616795 |
| CACNA1H | 101.1 | 0.98 | 0.95 | Hyperaldosteronism, familial, type IV, | 617027 |
| CACNA1H | 101.1 | 0.98 | 0.95 | {Epilepsy, childhood absence, susceptibility to, 6}, | 611942 |
| CACNA1H | 101.1 | 0.98 | 0.95 | {Epilepsy, idiopathic generalized, susceptibility to, 6}, | 611942 |
| CACNA1S | 120.7 | 1 | 0.99 | Hypokalemic periodic paralysis, type 1 | 170400 |
| CACNA1S | 120.7 | 1 | 0.99 | {Malignant hyperthermia susceptibility 5}, | 601887 |
| CACNA1S | 120.7 | 1 | 0.99 | {Thyrotoxic periodic paralysis, susceptibility to, 1}, | 188580 |
| CACNA2D4 | 98.1 | 0.98 | 0.96 | Retinal cone dystrophy 4 | 610478 |
| CACNB2 | 129.5 | 0.99 | 0.95 | Brugada syndrome 4 | 611876 |
| CACNB4 | 105 | 0.98 | 0.94 | Episodic ataxia, type 5 | 613855 |
| CACNB4 | 105 | 0.98 | 0.94 | {Epilepsy, idiopathic generalized, susceptibility to, 9}, | 607682 |
| CACNB4 | 105 | 0.98 | 0.94 | {Epilepsy, juvenile myoclonic, susceptibility to, 6}, | 607682 |
| CACNG2 | 130.8 | 1 | 1 | Mental retardation, autosomal dominant 10 | 614256 |
| CALM1 | 124.2 | 1 | 1 | Long QT syndrome 14 | 616247 |
| CALM1 | 124.2 | 1 | 1 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | 614916 |
| CALM2 | 50 | 0.67 | 0.64 | Long QT syndrome 15 | 616249 |
| CALR | 90.6 | 1 | 0.94 | Myelofibrosis, somatic, | 254450 |
| CALR | 90.6 | 1 | 0.94 | Thrombocythemia, somatic, | 187950 |
| CAMTA1 | 148.8 | 1 | 0.99 | Cerebellar ataxia, nonprogressive, with mental retardation, | 614756 |
| CANT1 | 125.1 | 1 | 1 | Desbuquois dysplasia 1 | 251450 |
| CAPN1 | 130.2 | 1 | 1 | Spastic paraplegia 76 autosomal recessive, | 616907 |
| CAPN3 | 106.5 | 0.99 | 0.94 | Muscular dystrophy, limb-girdle, type 2A, | 253600 |
| CAPN5 | 132 | 1 | 0.93 | Vitreoretinopathy, neovascular inflammatory, | 193235 |
| CARD11 | 135 | 0.98 | 0.97 | B-cell expansion with NFKB and T-cell anergy, | 616452 |
| CARD11 | 135 | 0.98 | 0.97 | Immunodeficiency 11 | 615206 |
| CARD14 | 95.7 | 0.99 | 0.95 | Pityriasis rubra pilaris, | 173200 |
| CARD14 | 95.7 | 0.99 | 0.95 | Psoriasis 2 | 602723 |
| CARD9 | 101.8 | 0.97 | 0.95 | Candidiasis, familial, 2 autosomal recessive, | 212050 |
| CARS2 | 108.9 | 1 | 1 | Combined oxidative phosphorylation deficiency 27 | 616672 |
| CASC5 | 94.5 | 0.96 | 0.93 | Microcephaly 4 primary, autosomal recessive, | 604321 |
| CASK | 123.8 | 1 | 0.99 | FG syndrome 4 | 300422 |
| CASK | 123.8 | 1 | 0.99 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia, | 300749 |
| CASK | 123.8 | 1 | 0.99 | Mental retardation, with or without nystagmus, | 300422 |
| CASP10 | 98.1 | 0.98 | 0.95 | Autoimmune lymphoproliferative syndrome, type II, | 603909 |
| CASP10 | 98.1 | 0.98 | 0.95 | Gastric cancer, somatic, | 613659 |
| CASP10 | 98.1 | 0.98 | 0.95 | Lymphoma, non-Hodgkin, somatic, | 605027 |
| CASP8 | 141.5 | 1 | 0.99 | Hepatocellular carcinoma, somatic, | 114550 |
| CASP8 | 141.5 | 1 | 0.99 | ?Autoimmune lymphoproliferative syndrome, type IIB, | 607271 |
| CASP8 | 141.5 | 1 | 0.99 | {Breast cancer, protection against}, | 114480 |
| CASP8 | 141.5 | 1 | 0.99 | {Lung cancer, protection against}, | 211980 |
| CASQ1 | 102.4 | 1 | 0.99 | Myopathy, vacuolar, with CASQ1 aggregates, | 616231 |
| CASQ2 | 135.5 | 1 | 0.98 | Ventricular tachycardia, catecholaminergic polymorphic, 2 | 611938 |
| CASR | 141.5 | 0.99 | 0.99 | Hypercalciuric hypercalcemia | 611938 |
| CASR | 141.5 | 0.99 | 0.99 | Hyperparathyroidism, neonatal, | 239200 |
| CASR | 141.5 | 0.99 | 0.99 | Hypocalcemia, autosomal dominant, | 601198 |
| CASR | 141.5 | 0.99 | 0.99 | Hypocalcemia, autosomal dominant, with Bartter syndrome, | 601198 |
| CASR | 141.5 | 0.99 | 0.99 | Hypocalciuric hypercalcemia, type I, | 145980 |
| CASR | 141.5 | 0.99 | 0.99 | {Calcium, serum level of} | 145980 |
| CASR | 141.5 | 0.99 | 0.99 | {Epilepsy idiopathic generalized, susceptibility to, 8}, | 612899 |
| CAST | 97.4 | 0.94 | 0.91 | Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, | 616295 |
| CAT | 141.3 | 1 | 1 | Acatalasemia, | 614097 |
| CATSPER1 | 146.6 | 1 | 0.99 | Spermatogenic failure 7 | 612997 |
| CAV1 | 209.7 | 1 | 1 | Pulmonary hypertension, primary, 3 | 615343 |
| CAV1 | 209.7 | 1 | 1 | ?Lipodystrophy, congenital generalized, type 3 | 612526 |
| CAV1 | 209.7 | 1 | 1 | ?Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, | 606721 |
| CAV3 | 219.6 | 1 | 1 | Cardiomyopathy, familial hypertrophic, | 192600 |
| CAV3 | 219.6 | 1 | 1 | Creatine phosphokinase, elevated serum, | 123320 |
| CAV3 | 219.6 | 1 | 1 | Long QT syndrome 9 | 611818 |
| CAV3 | 219.6 | 1 | 1 | Muscular dystrophy, limb-girdle, type IC, | 607801 |
| CAV3 | 219.6 | 1 | 1 | Myopathy, distal, Tateyama type, | 614321 |
| CAV3 | 219.6 | 1 | 1 | Rippling muscle disease, | 606072 |
| CBL | 117.3 | 0.99 | 0.98 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, | 613563 |
| CBL | 117.3 | 0.99 | 0.98 | ?Juvenile myelomonocytic leukemia, | 607785 |
| CBS | 97.6 | 0.96 | 0.89 | Homocystinuria, B6-responsive and nonresponsive types, | 236200 |
| CBS | 97.6 | 0.96 | 0.89 | Thrombosis, hyperhomocysteinemic, | 236200 |
| CC2D1A | 102.1 | 1 | 0.98 | Mental retardation, autosomal recessive 3 | 608443 |
| CC2D2A | 111.9 | 0.99 | 0.96 | COACH syndrome, | 216360 |
| CC2D2A | 111.9 | 0.99 | 0.96 | Joubert syndrome 9 | 612285 |
| CC2D2A | 111.9 | 0.99 | 0.96 | Meckel syndrome 6 | 612284 |
| CCBE1 | 63.1 | 0.95 | 0.84 | Hennekam lymphangiectasia-lymphedema syndrome 1 | 235510 |
| CCDC103 | 88.1 | 1 | 0.97 | Ciliary dyskinesia, primary, 17 | 614679 |
| CCDC11 | 140 | 0.97 | 0.94 | Heterotaxy, visceral, 6 autosomal recessive, | 614779 |
| CCDC114 | 106.5 | 1 | 0.99 | Ciliary dyskinesia, primary, 20 | 615067 |
| CCDC115 | 69.5 | 0.89 | 0.88 | Congenital disorder of glycosylation, type IIo, | 616828 |
| CCDC151 | 105.7 | 1 | 0.98 | Ciliary dyskinesia, primary, 30 | 616037 |
| CCDC174 | 102.3 | 0.95 | 0.91 | Hypotonia, infantile, with psychomotor retardation, | 616816 |
| CCDC22 | 114.1 | 0.98 | 0.94 | Ritscher-Schinzel syndrome 2 | 300963 |
| CCDC39 | 79.1 | 0.95 | 0.9 | Ciliary dyskinesia, primary, 14 | 613807 |
| CCDC40 | 99.4 | 0.98 | 0.98 | Ciliary dyskinesia, primary, 15 | 613808 |
| CCDC41 | 95.6 | 0.94 | 0.87 | Nephronophthisis 18 | 615862 |
| CCDC65 | 79 | 1 | 0.81 | Ciliary dyskinesia, primary, 27 | 615504 |
| CCDC78 | 97.4 | 1 | 1 | Myopathy, centronuclear, 4 | 614807 |
| CCDC8 | 82.8 | 1 | 1 | 3-M syndrome 3 | 614205 |
| CCDC88A | 71.6 | 0.95 | 0.83 | PEHO syndrome, | 260565 |
| CCDC88C | 95.4 | 0.98 | 0.95 | Hydrocephalus, nonsyndromic, autosomal recessive, | 236600 |
| CCDC88C | 95.4 | 0.98 | 0.95 | ?Spinocerebellar ataxia 40 | 616053 |
| CCM2 | 132.2 | 0.97 | 0.97 | Cerebral cavernous malformations-2, | 603284 |
| CCND2 | 143.1 | 1 | 1 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 615938 |
| CCNO | 75.2 | 0.99 | 0.94 | Ciliary dyskinesia, primary, 29 | 615872 |
| CCT5 | 125 | 1 | 0.99 | Neuropathy, hereditary sensory, with spastic paraplegia, | 256840 |
| CD151 | 116.9 | 1 | 1 | Nephropathy with pretibial epidermolysis bullosa and deafness, | 609057 |
| CD151 | 116.9 | 1 | 1 | [Blood group, Raph], | 179620 |
| CD19 | 77.8 | 1 | 0.98 | Immunodeficiency, common variable, 3 | 613493 |
| CD27 | 84.2 | 0.99 | 0.92 | Lymphoproliferative syndrome 2 | 615122 |
| CD2AP | 81.8 | 0.99 | 0.96 | Glomerulosclerosis, focal segmental, 3 | 607832 |
| CD320 | 77.7 | 1 | 0.99 | Methylmalonic aciduria due to transcobalamin receptor defect, | 613646 |
| CD36 | 113.1 | 1 | 0.97 | Platelet glycoprotein IV deficiency, | 608404 |
| CD36 | 113.1 | 1 | 0.97 | [Macrothrombocytopenia] | 608404 |
| CD36 | 113.1 | 1 | 0.97 | {Coronary heart disease, susceptibility to, 7}, | 610938 |
| CD36 | 113.1 | 1 | 0.97 | {Malaria, cerebral, reduced risk of}, | 611162 |
| CD36 | 113.1 | 1 | 0.97 | {Malaria, cerebral, susceptibility to}, | 611162 |
| CD3D | 166.1 | 1 | 1 | Immunodeficiency 19 | 615617 |
| CD3E | 164.4 | 1 | 0.99 | Immunodeficiency 18 | 615615 |
| CD3E | 164.4 | 1 | 0.99 | Immunodeficiency 18 SCID variant, | 615615 |
| CD3G | 171.8 | 1 | 1 | Immunodeficiency 17 CD3 gamma deficient, | 615607 |
| CD4 | 91.7 | 1 | 1 | OKT4 epitope deficiency, | 613949 |
| CD40 | 160.1 | 1 | 0.96 | Immunodeficiency with hyper-IgM, type 3 | 606843 |
| CD40LG | 174.2 | 0.99 | 0.99 | Immunodeficiency, X-linked, with hyper-IgM, | 308230 |
| CD59 | 196.1 | 0.9 | 0.84 | Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, | 612300 |
| CD79A | 122 | 1 | 0.97 | Agammaglobulinemia 3 | 613501 |
| CD79B | 194.1 | 1 | 1 | Agammaglobulinemia 6 | 612692 |
| CD81 | 129 | 1 | 0.99 | Immunodeficiency, common variable, 6 | 613496 |
| CD8A | 89.8 | 0.98 | 0.97 | CD8 deficiency, familial, | 608957 |
| CD96 | 148.5 | 1 | 0.99 | C syndrome, | 211750 |
| CDAN1 | 89.1 | 0.96 | 0.94 | Dyserythropoietic anemia, congenital, type Ia, | 224120 |
| CDC14A | 133 | 0.94 | 0.88 | Deafness,autosomal recessive 105, | 616958 |
| CDC42 | 80.8 | 0.97 | 0.93 | Takenouchi-Kosaki syndrome, | 616737 |
| CDC45 | 144.3 | 0.99 | 0.97 | Meier-Gorlin syndrome 7 | 617063 |
| CDC6 | 148.5 | 1 | 0.99 | Meier-Gorlin syndrome 5 | 613805 |
| CDC73 | 85.8 | 1 | 0.96 | Hyperparathyroidism, familial primary, | 145000 |
| CDC73 | 85.8 | 1 | 0.96 | Hyperparathyroidism-jaw tumor syndrome, | 145001 |
| CDC73 | 85.8 | 1 | 0.96 | Parathyroid adenoma with cystic changes, | 145001 |
| CDC73 | 85.8 | 1 | 0.96 | Parathyroid carcinoma, | 608266 |
| CDCA7 | 85.3 | 0.98 | 0.95 | Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | 616910 |
| CDH1 | 94.4 | 0.99 | 0.97 | Endometrial carcinoma, somatic, | 608089 |
| CDH1 | 94.4 | 0.99 | 0.97 | Gastric cancer, familial diffuse, with or without cleft lip and/or palate, | 137215 |
| CDH1 | 94.4 | 0.99 | 0.97 | Ovarian carcinoma, somatic, | 167000 |
| CDH1 | 94.4 | 0.99 | 0.97 | {Breast cancer, lobular}, | 114480 |
| CDH1 | 94.4 | 0.99 | 0.97 | {Prostate cancer, susceptibility to}, | 176807 |
| CDH15 | 107.3 | 0.99 | 0.95 | Mental retardation, autosomal dominant 3 | 612580 |
| CDH23 | 167.6 | 1 | 0.99 | Deafness, autosomal recessive 12 | 601386 |
| CDH23 | 167.6 | 1 | 0.99 | Usher syndrome, type 1D, | 601067 |
| CDH23 | 167.6 | 1 | 0.99 | Usher syndrome, type 1D/F digenic, | 601067 |
| CDH3 | 121.8 | 0.99 | 0.95 | Ectodermal dysplasia, ectrodactyly, and macular dystrophy, | 225280 |
| CDH3 | 121.8 | 0.99 | 0.95 | Hypotrichosis, congenital, with juvenile macular dystrophy, | 601553 |
| CDHR1 | 130.3 | 1 | 0.98 | Cone-rod dystrophy 15 | 613660 |
| CDHR1 | 130.3 | 1 | 0.98 | Retinitis pigmentosa 65 | 613660 |
| CDK5RAP2 | 116.7 | 0.98 | 0.97 | Microcephaly 3 primary, autosomal recessive, | 604804 |
| CDKL5 | 138.6 | 0.99 | 0.96 | Epileptic encephalopathy, early infantile, 2 | 300672 |
| CDKN1B | 62.5 | 1 | 0.89 | Multiple endocrine neoplasia, type IV, | 610755 |
| CDKN1C | 32.7 | 0.74 | 0.57 | Beckwith-Wiedemann syndrome, | 130650 |
| CDKN1C | 32.7 | 0.74 | 0.57 | IMAGE syndrome, | 614732 |
| CDKN2A | 63.1 | 0.92 | 0.9 | Melanoma and neural system tumor syndrome, | 155755 |
| CDKN2A | 63.1 | 0.92 | 0.9 | Orolaryngeal cancer, multiple, | 155755 |
| CDKN2A | 63.1 | 0.92 | 0.9 | Pancreatic cancer/melanoma syndrome, | 606719 |
| CDKN2A | 63.1 | 0.92 | 0.9 | {Melanoma, cutaneous malignant, 2}, | 155601 |
| CDON | 118.9 | 1 | 0.98 | Holoprosencephaly 11 | 614226 |
| CDSN | 9.7 | 0.37 | 0.11 | Hypotrichosis 2 | 146520 |
| CDSN | 9.7 | 0.37 | 0.11 | Peeling skin syndrome 1 | 270300 |
| CDT1 | 69.2 | 0.93 | 0.88 | Meier-Gorlin syndrome 4 | 613804 |
| CEACAM16 | 111.1 | 1 | 0.98 | Deafness, autosomal dominant 4B, | 614614 |
| CEBPA | 41.3 | 0.86 | 0.61 | Leukemia, acute myeloid, somatic, | 601626 |
| CEBPA | 41.3 | 0.86 | 0.61 | ?Leukemia, acute myeloid, | 601626 |
| CEBPE | 62.7 | 0.98 | 0.96 | Specific granule deficiency, | 245480 |
| CECR1 | 85.9 | 1 | 0.97 | Polyarteritis nodosa, childhood-onset, | 615688 |
| CECR1 | 85.9 | 1 | 0.97 | ?Sneddon syndrome, | 182410 |
| CEL | 109.2 | 0.84 | 0.81 | Maturity-onset diabetes of the young, type VIII, | 609812 |
| CENPF | 121.4 | 0.99 | 0.97 | Stromme syndrome, | 243605 |
| CENPJ | 129.4 | 0.99 | 0.95 | Microcephaly 6 primary, autosomal recessive, | 608393 |
| CENPJ | 129.4 | 0.99 | 0.95 | ?Seckel syndrome 4 | 613676 |
| CEP104 | 106.2 | 0.98 | 0.96 | Joubert syndrome 25 | 616781 |
| CEP120 | 117.4 | 1 | 0.98 | Short-rib thoracic dysplasia 13 with or without polydactyly, | 616300 |
| CEP152 | 157.8 | 0.97 | 0.94 | Microcephaly 9 primary, autosomal recessive, | 614852 |
| CEP152 | 157.8 | 0.97 | 0.94 | Seckel syndrome 5 | 613823 |
| CEP164 | 74.4 | 0.98 | 0.93 | Nephronophthisis 15 | 614845 |
| CEP19 | 173.5 | 1 | 1 | Morbid obesity and spermatogenic failure, | 615703 |
| CEP290 | 64.3 | 0.85 | 0.74 | Joubert syndrome 5 | 610188 |
| CEP290 | 64.3 | 0.85 | 0.74 | Leber congenital amaurosis 10 | 611755 |
| CEP290 | 64.3 | 0.85 | 0.74 | Meckel syndrome 4 | 611134 |
| CEP290 | 64.3 | 0.85 | 0.74 | Senior-Loken syndrome 6 | 610189 |
| CEP290 | 64.3 | 0.85 | 0.74 | ?Bardet-Biedl syndrome 14 | 615991 |
| CEP41 | 76.4 | 0.94 | 0.86 | Joubert syndrome 15 | 614464 |
| CEP57 | 91.9 | 1 | 0.92 | Mosaic variegated aneuploidy syndrome 2 | 614114 |
| CERKL | 80.8 | 0.97 | 0.88 | Retinitis pigmentosa 26 | 608380 |
| CERS3 | 115 | 1 | 1 | Ichthyosis, congenital, autosomal recessive 9 | 615023 |
| CES1 | 129.5 | 1 | 0.97 | Carboxylesterase 1 deficiency, | 114835 |
| CETP | 122.3 | 1 | 1 | Hyperalphalipoproteinemia, | 143470 |
| CETP | 122.3 | 1 | 1 | [High density lipoprotein cholesterol level QTL 10], | 143470 |
| CFC1 | 46.7 | 0.76 | 0.51 | Heterotaxy, visceral, 2 autosomal, | 605376 |
| CFD | 72.2 | 0.85 | 0.81 | Complement factor D deficiency, | 613912 |
| CFH | 156.9 | 0.98 | 0.95 | Basal laminar drusen, | 126700 |
| CFH | 156.9 | 0.98 | 0.95 | Complement factor H deficiency, | 609814 |
| CFH | 156.9 | 0.98 | 0.95 | {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, | 235400 |
| CFH | 156.9 | 0.98 | 0.95 | {Macular degeneration, age-related, 4}, | 610698 |
| CFHR5 | 92.7 | 0.98 | 0.92 | Nephropathy due to CFHR5 deficiency, | 614809 |
| CFI | 140.4 | 0.97 | 0.96 | Complement factor I deficiency, | 610984 |
| CFI | 140.4 | 0.97 | 0.96 | {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, | 612923 |
| CFI | 140.4 | 0.97 | 0.96 | {Macular degeneration, age-related, 13 susceptibility to}, | 615439 |
| CFL2 | 118.3 | 0.85 | 0.84 | Nemaline myopathy 7 autosomal recessive, | 610687 |
| CFP | 101.9 | 1 | 0.96 | Properdin deficiency,X-linked, | 312060 |
| CFTR | 113.2 | 0.98 | 0.92 | Congenital bilateral absence of vas deferens, | 277180 |
| CFTR | 113.2 | 0.98 | 0.92 | Cystic fibrosis, | 219700 |
| CFTR | 113.2 | 0.98 | 0.92 | Sweat chloride elevation without CF | 219700 |
| CFTR | 113.2 | 0.98 | 0.92 | {Bronchiectasis with or without elevated sweat chloride 1 modifier of}, | 211400 |
| CFTR | 113.2 | 0.98 | 0.92 | {Hypertrypsinemia, neonatal} | 211400 |
| CFTR | 113.2 | 0.98 | 0.92 | {Pancreatitis, idiopathic}, | 167800 |
| CHAMP1 | 149.4 | 1 | 1 | Mental retardation, autosomal dominant 40 | 616579 |
| CHAT | 110.9 | 0.9 | 0.83 | Myasthenic syndrome, congenital, 6 presynaptic, | 254210 |
| CHCHD10 | 22.1 | 0.39 | 0.33 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 |
| CHCHD10 | 22.1 | 0.39 | 0.33 | Spinal muscular atrophy, Jokela type, | 615048 |
| CHCHD10 | 22.1 | 0.39 | 0.33 | ?Myopathy, isolated mitochondrial, autosomal dominant, | 616209 |
| CHCHD2 | 85.1 | 0.99 | 0.87 | Parkinson disease 22 autosomal dominant, | 616710 |
| CHD2 | 118.6 | 0.99 | 0.95 | Epileptic encephalopathy, childhood-onset, | 615369 |
| CHD7 | 126 | 0.99 | 0.98 | CHARGE syndrome, | 214800 |
| CHD7 | 126 | 0.99 | 0.98 | Hypogonadotropic hypogonadism 5 with or without anosmia, | 612370 |
| CHEK2 | 88.1 | 0.83 | 0.76 | Li-Fraumeni syndrome, | 609265 |
| CHEK2 | 88.1 | 0.83 | 0.76 | Osteosarcoma, somatic, | 259500 |
| CHEK2 | 88.1 | 0.83 | 0.76 | {Breast and colorectal cancer, susceptibility to} | 259500 |
| CHEK2 | 88.1 | 0.83 | 0.76 | {Breast cancer, susceptibility to}, | 114480 |
| CHEK2 | 88.1 | 0.83 | 0.76 | {Prostate cancer, familial, susceptibility to}, | 176807 |
| CHKB | 75.2 | 0.91 | 0.9 | Muscular dystrophy, congenital, megaconial type, | 602541 |
| CHM | 132.9 | 0.99 | 0.97 | Choroideremia, | 303100 |
| CHMP1A | 98.2 | 1 | 1 | Pontocerebellar hypoplasia, type 8 | 614961 |
| CHMP2B | 74.5 | 0.94 | 0.7 | Amyotrophic lateral sclerosis 17 | 614696 |
| CHMP2B | 74.5 | 0.94 | 0.7 | Dementia, familial, nonspecific, | 600795 |
| CHMP4B | 113.2 | 1 | 0.98 | Cataract 31 multiple types, | 605387 |
| CHN1 | 131.2 | 0.97 | 0.97 | Duane retraction syndrome 2 | 604356 |
| CHRDL1 | 143.2 | 1 | 1 | Megalocornea 1 X-linked | 309300 |
| CHRNA1 | 110.3 | 1 | 1 | Multiple pterygium syndrome, lethal type, | 253290 |
| CHRNA1 | 110.3 | 1 | 1 | Myasthenic syndrome, congenital, 1A, slow-channel, | 601462 |
| CHRNA1 | 110.3 | 1 | 1 | Myasthenic syndrome, congenital, 1B, fast-channel, | 608930 |
| CHRNA2 | 193.8 | 1 | 1 | Epilepsy, nocturnal frontal lobe, type 4 | 610353 |
| CHRNA4 | 134.3 | 0.96 | 0.95 | Epilepsy, nocturnal frontal lobe, 1 | 600513 |
| CHRNA4 | 134.3 | 0.96 | 0.95 | {Nicotine addiction, susceptibility to}, | 188890 |
| CHRNB1 | 137.3 | 1 | 0.98 | Myasthenic syndrome, congenital, 2A, slow-channel, | 616313 |
| CHRNB1 | 137.3 | 1 | 0.98 | ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, | 616314 |
| CHRNB2 | 187.5 | 0.99 | 0.97 | Epilepsy, nocturnal frontal lobe, 3 | 605375 |
| CHRND | 143.3 | 1 | 0.99 | Multiple pterygium syndrome, lethal type, | 253290 |
| CHRND | 143.3 | 1 | 0.99 | Myasthenic syndrome, congenital, 3B, fast-channel, | 616322 |
| CHRND | 143.3 | 1 | 0.99 | ?Myasthenic syndrome, congenital, 3A, slow-channel, | 616321 |
| CHRND | 143.3 | 1 | 0.99 | ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, | 616323 |
| CHRNE | 122.7 | 1 | 0.99 | Myasthenic syndrome, congenital, 4A, slow-channel, | 605809 |
| CHRNE | 122.7 | 1 | 0.99 | Myasthenic syndrome, congenital, 4B, fast-channel, | 616324 |
| CHRNE | 122.7 | 1 | 0.99 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, | 608931 |
| CHRNG | 153.5 | 1 | 1 | Escobar syndrome, | 265000 |
| CHRNG | 153.5 | 1 | 1 | Multiple pterygium syndrome, lethal type, | 253290 |
| CHST14 | 145 | 0.94 | 0.93 | Ehlers-Danlos syndrome, musculocontractural type 1 | 601776 |
| CHST3 | 83.9 | 1 | 0.95 | Spondyloepiphyseal dysplasia with congenital joint dislocations, | 143095 |
| CHST6 | 262.4 | 1 | 1 | Macular corneal dystrophy, | 217800 |
| CHSY1 | 119.9 | 0.94 | 0.93 | Temtamy preaxial brachydactyly syndrome, | 605282 |
| CHUK | 115.6 | 1 | 0.95 | Cocoon syndrome, | 613630 |
| CIB2 | 201.8 | 1 | 1 | Deafness, autosomal recessive 48 | 609439 |
| CIB2 | 201.8 | 1 | 1 | Usher syndrome, type IJ, | 614869 |
| CIITA | 105.4 | 1 | 0.98 | Bare lymphocyte syndrome, type II, complementation group A, | 209920 |
| CIITA | 105.4 | 1 | 0.98 | {Rheumatoid arthritis, susceptibility to}, | 180300 |
| CIRH1A | 163 | 1 | 1 | Cirrhosis, North American Indian childhood type, | 604901 |
| CISD2 | 122.8 | 0.83 | 0.83 | Wolfram syndrome 2 | 604928 |
| CITED2 | 99.5 | 1 | 1 | Atrial septal defect 8 | 614433 |
| CITED2 | 99.5 | 1 | 1 | Ventricular septal defect 2 | 614431 |
| CKAP2L | 162.4 | 0.99 | 0.94 | Filippi syndrome, | 272440 |
| CLCF1 | 92.3 | 1 | 0.97 | Cold-induced sweating syndrome 2 | 610313 |
| CLCN1 | 122.7 | 0.99 | 0.98 | Myotonia congenita, dominant, | 160800 |
| CLCN1 | 122.7 | 0.99 | 0.98 | Myotonia congenita, recessive, | 255700 |
| CLCN1 | 122.7 | 0.99 | 0.98 | Myotonia levior, recessive | 255700 |
| CLCN2 | 93.2 | 1 | 0.97 | Leukoencephalopathy with ataxia, | 615651 |
| CLCN2 | 93.2 | 1 | 0.97 | {Epilepsy, idiopathic generalized, susceptibility to, 11}, | 607628 |
| CLCN2 | 93.2 | 1 | 0.97 | {Epilepsy, juvenile absence, susceptibility to, 2}, | 607628 |
| CLCN2 | 93.2 | 1 | 0.97 | {Epilepsy, juvenile myoclonic, susceptibility to, 8}, | 607628 |
| CLCN4 | 129.3 | 1 | 1 | Mental retardation, X-linked 49/15, | 300114 |
| CLCN5 | 152.6 | 0.99 | 0.99 | Dent disease, | 300009 |
| CLCN5 | 152.6 | 0.99 | 0.99 | Hypophosphatemic rickets, | 300554 |
| CLCN5 | 152.6 | 0.99 | 0.99 | Nephrolithiasis, type I, | 310468 |
| CLCN5 | 152.6 | 0.99 | 0.99 | Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, | 308990 |
| CLCN7 | 118 | 0.98 | 0.96 | Osteopetrosis, autosomal dominant 2 | 166600 |
| CLCN7 | 118 | 0.98 | 0.96 | Osteopetrosis, autosomal recessive 4 | 611490 |
| CLCNKA | 89 | 0.97 | 0.9 | Bartter syndrome, type 4b, digenic, | 613090 |
| CLCNKB | 88.1 | 0.96 | 0.89 | Bartter syndrome, type 3 | 607364 |
| CLCNKB | 88.1 | 0.96 | 0.89 | Bartter syndrome, type 4b, digenic, | 613090 |
| CLDN1 | 125.4 | 1 | 1 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, | 607626 |
| CLDN14 | 102.3 | 1 | 1 | Deafness, autosomal recessive 29 | 614035 |
| CLDN16 | 135 | 1 | 0.99 | Hypomagnesemia 3 renal, | 248250 |
| CLDN19 | 111.6 | 0.96 | 0.93 | Hypomagnesemia 5 renal, with ocular involvement, | 248190 |
| CLEC7A | 119.3 | 1 | 0.98 | Candidiasis, familial, 4 autosomal recessive, | 613108 |
| CLEC7A | 119.3 | 1 | 0.98 | {Aspergillosis, susceptibility to}, | 614079 |
| CLMP | 93.1 | 1 | 0.98 | Congenital short bowel syndrome, | 615237 |
| CLN3 | 104.9 | 1 | 0.96 | Ceroid lipofuscinosis, neuronal, 3 | 204200 |
| CLN5 | 136.2 | 0.93 | 0.86 | Ceroid lipofuscinosis, neuronal, 5 | 256731 |
| CLN6 | 110.2 | 0.95 | 0.92 | Ceroid lipofuscinosis, neuronal, 6 | 601780 |
| CLN6 | 110.2 | 0.95 | 0.92 | Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, | 204300 |
| CLN8 | 195.1 | 1 | 1 | Ceroid lipofuscinosis, neuronal, 8 | 600143 |
| CLN8 | 195.1 | 1 | 1 | Ceroid lipofuscinosis, neuronal, 8 Northern epilepsy variant, | 610003 |
| CLP1 | 147.8 | 1 | 1 | Pontocerebellar hypoplasia, type 10 | 615803 |
| CLPB | 118.3 | 0.96 | 0.96 | 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, | 616271 |
| CLPP | 94.8 | 0.96 | 0.87 | Perrault syndrome 3 | 614129 |
| CLRN1 | 126 | 1 | 1 | Retinitis pigmentosa 61 | 614180 |
| CLRN1 | 126 | 1 | 1 | Usher syndrome, type 3A, | 276902 |
| CNBP | 107.6 | 1 | 1 | Myotonic dystrophy 2, | 602668 |
| CNGA1 | 102.3 | 0.84 | 0.8 | Retinitis pigmentosa 49 | 613756 |
| CNGA3 | 139.4 | 1 | 0.97 | Achromatopsia-2, | 216900 |
| CNGB1 | 90.5 | 0.98 | 0.94 | Retinitis pigmentosa 45 | 613767 |
| CNGB3 | 98.5 | 0.99 | 0.87 | Achromatopsia-3, | 262300 |
| CNGB3 | 98.5 | 0.99 | 0.87 | Macular degeneration, juvenile, | 248200 |
| CNNM2 | 162.3 | 1 | 0.99 | Hypomagnesemia 6 renal, | 613882 |
| CNNM2 | 162.3 | 1 | 0.99 | Hypomagnesemia, seizures, and mental retardation, | 616418 |
| CNNM4 | 161.8 | 0.98 | 0.97 | Jalili syndrome, | 217080 |
| CNTNAP1 | 137.7 | 0.98 | 0.96 | Lethal congenital contracture syndrome 7 | 616286 |
| CNTNAP2 | 121.9 | 1 | 0.99 | Cortical dysplasia-focal epilepsy syndrome, | 610042 |
| CNTNAP2 | 121.9 | 1 | 0.99 | Pitt-Hopkins like syndrome 1 | 610042 |
| CNTNAP2 | 121.9 | 1 | 0.99 | {Autism susceptibility 15}, | 612100 |
| COA6 | 57.9 | 0.97 | 0.87 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | 616501 |
| COASY | 133.9 | 1 | 1 | Neurodegeneration with brain iron accumulation 6 | 615643 |
| COCH | 191.2 | 0.99 | 0.99 | Deafness, autosomal dominant 9 | 601369 |
| COG1 | 109.9 | 1 | 0.99 | Congenital disorder of glycosylation, type IIg, | 611209 |
| COG4 | 113.3 | 1 | 0.99 | Congenital disorder of glycosylation, type IIj, | 613489 |
| COG5 | 97.3 | 0.93 | 0.92 | Congenital disorder of glycosylation, type IIi, | 613612 |
| COG6 | 76.5 | 0.92 | 0.79 | Congenital disorder of glycosylation, type IIl, | 614576 |
| COG6 | 76.5 | 0.92 | 0.79 | Shaheen syndrome, | 615328 |
| COG7 | 115.5 | 1 | 1 | Congenital disorder of glycosylation, type IIe, | 608779 |
| COG8 | 103.5 | 0.99 | 0.88 | Congenital disorder of glycosylation, type IIh, | 611182 |
| COL10A1 | 81.1 | 1 | 0.91 | Metaphyseal chondrodysplasia, Schmid type, | 156500 |
| COL11A1 | 79.7 | 0.92 | 0.89 | Fibrochondrogenesis 1 | 228520 |
| COL11A1 | 79.7 | 0.92 | 0.89 | Marshall syndrome, | 154780 |
| COL11A1 | 79.7 | 0.92 | 0.89 | Stickler syndrome, type II, | 604841 |
| COL11A1 | 79.7 | 0.92 | 0.89 | {Lumbar disc herniation, susceptibility to}, | 603932 |
| COL11A2 | 10.1 | 0.41 | 0.11 | Deafness, autosomal dominant 13 | 601868 |
| COL11A2 | 10.1 | 0.41 | 0.11 | Deafness, autosomal recessive 53 | 609706 |
| COL11A2 | 10.1 | 0.41 | 0.11 | Fibrochondrogenesis 2 | 614524 |
| COL11A2 | 10.1 | 0.41 | 0.11 | Otospondylomegaepiphyseal dysplasia, | 215150 |
| COL11A2 | 10.1 | 0.41 | 0.11 | Stickler syndrome, type III, | 184840 |
| COL11A2 | 10.1 | 0.41 | 0.11 | Weissenbacher-Zweymuller syndrome, | 277610 |
| COL12A1 | 122.2 | 0.99 | 0.97 | Bethlem myopathy 2 | 616471 |
| COL12A1 | 122.2 | 0.99 | 0.97 | ?Ullrich congenital muscular dystrophy 2 | 616470 |
| COL13A1 | 75.1 | 1 | 0.96 | Myasthenic syndrome, congenital, 19 | 616720 |
| COL17A1 | 97.4 | 0.97 | 0.93 | Epidermolysis bullosa, junctional, localisata variant, | 226650 |
| COL17A1 | 97.4 | 0.97 | 0.93 | Epidermolysis bullosa, junctional, non-Herlitz type, | 226650 |
| COL17A1 | 97.4 | 0.97 | 0.93 | Epithelial recurrent erosion dystrophy, | 122400 |
| COL18A1 | 75.9 | 0.93 | 0.85 | Knobloch syndrome, type 1 | 267750 |
| COL1A1 | 118 | 0.97 | 0.94 | Caffey disease, | 114000 |
| COL1A1 | 118 | 0.97 | 0.94 | Ehlers-Danlos syndrome, classic, | 130000 |
| COL1A1 | 118 | 0.97 | 0.94 | Ehlers-Danlos syndrome, type VIIA, | 130060 |
| COL1A1 | 118 | 0.97 | 0.94 | Osteogenesis imperfecta, type I, | 166200 |
| COL1A1 | 118 | 0.97 | 0.94 | Osteogenesis imperfecta, type II, | 166210 |
| COL1A1 | 118 | 0.97 | 0.94 | Osteogenesis imperfecta, type III, | 259420 |
| COL1A1 | 118 | 0.97 | 0.94 | Osteogenesis imperfecta, type IV, | 166220 |
| COL1A1 | 118 | 0.97 | 0.94 | {Bone mineral density variation QTL, osteoporosis}, | 166710 |
| COL1A2 | 90.7 | 0.95 | 0.91 | Ehlers-Danlos syndrome, cardiac valvular form, | 225320 |
| COL1A2 | 90.7 | 0.95 | 0.91 | Ehlers-Danlos syndrome, type VIIB, | 130060 |
| COL1A2 | 90.7 | 0.95 | 0.91 | Osteogenesis imperfecta, type II, | 166210 |
| COL1A2 | 90.7 | 0.95 | 0.91 | Osteogenesis imperfecta, type III, | 259420 |
| COL1A2 | 90.7 | 0.95 | 0.91 | Osteogenesis imperfecta, type IV, | 166220 |
| COL1A2 | 90.7 | 0.95 | 0.91 | {Osteoporosis, postmenopausal}, | 166710 |
| COL25A1 | 109.3 | 0.99 | 0.92 | Fibrosis of extraocular muscles, congenital, 5 | 616219 |
| COL2A1 | 92.2 | 1 | 0.98 | Achondrogenesis, type II or hypochondrogenesis, | 200610 |
| COL2A1 | 92.2 | 1 | 0.98 | Avascular necrosis of the femoral head, | 608805 |
| COL2A1 | 92.2 | 1 | 0.98 | Czech dysplasia, | 609162 |
| COL2A1 | 92.2 | 1 | 0.98 | Epiphyseal dysplasia, multiple, with myopia and deafness, | 132450 |
| COL2A1 | 92.2 | 1 | 0.98 | Kniest dysplasia, | 156550 |
| COL2A1 | 92.2 | 1 | 0.98 | Legg-Calve-Perthes disease, | 150600 |
| COL2A1 | 92.2 | 1 | 0.98 | Osteoarthritis with mild chondrodysplasia, | 604864 |
| COL2A1 | 92.2 | 1 | 0.98 | Otospondylomegaepiphyseal dysplasia, | 215150 |
| COL2A1 | 92.2 | 1 | 0.98 | Platyspondylic skeletal dysplasia, Torrance type, | 151210 |
| COL2A1 | 92.2 | 1 | 0.98 | SED congenita, | 183900 |
| COL2A1 | 92.2 | 1 | 0.98 | SMED Strudwick type, | 184250 |
| COL2A1 | 92.2 | 1 | 0.98 | Spondyloepiphyseal dysplasia, Stanescu type, | 616583 |
| COL2A1 | 92.2 | 1 | 0.98 | Spondyloperipheral dysplasia, | 271700 |
| COL2A1 | 92.2 | 1 | 0.98 | Stickler sydrome, type I, nonsyndromic ocular, | 609508 |
| COL2A1 | 92.2 | 1 | 0.98 | Stickler syndrome, type I, | 108300 |
| COL2A1 | 92.2 | 1 | 0.98 | Vitreoretinopathy with phalangeal epiphyseal dysplasia | 108300 |
| COL3A1 | 94.9 | 0.96 | 0.86 | Ehlers-Danlos syndrome, type IV, | 130050 |
| COL4A1 | 79.5 | 0.97 | 0.88 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, | 611773 |
| COL4A1 | 79.5 | 0.97 | 0.88 | Brain small vessel disease with or without ocular anomalies, | 607595 |
| COL4A1 | 79.5 | 0.97 | 0.88 | Porencephaly 1 | 175780 |
| COL4A1 | 79.5 | 0.97 | 0.88 | ?Retinal arteries, tortuosity of, | 180000 |
| COL4A1 | 79.5 | 0.97 | 0.88 | {Hemorrhage, intracerebral, susceptibility to}, | 614519 |
| COL4A2 | 85.6 | 0.98 | 0.93 | Porencephaly 2 | 614483 |
| COL4A2 | 85.6 | 0.98 | 0.93 | {Hemorrhage, intracerebral, susceptibility to}, | 614519 |
| COL4A3 | 77.4 | 0.97 | 0.95 | Alport syndrome, autosomal dominant, | 104200 |
| COL4A3 | 77.4 | 0.97 | 0.95 | Alport syndrome, autosomal recessive, | 203780 |
| COL4A3 | 77.4 | 0.97 | 0.95 | Hematuria, benign familial, | 141200 |
| COL4A3BP | 111.2 | 0.98 | 0.92 | Mental retardation, autosomal dominant 34 | 616351 |
| COL4A4 | 72.4 | 0.97 | 0.91 | Alport syndrome, autosomal recessive, | 203780 |
| COL4A4 | 72.4 | 0.97 | 0.91 | Hematuria, familial benign | 203780 |
| COL4A5 | 61.5 | 0.95 | 0.81 | Alport syndrome, | 301050 |
| COL5A1 | 105.4 | 0.99 | 0.95 | Ehlers-Danlos syndrome, classic type, | 130000 |
| COL5A2 | 74.2 | 0.99 | 0.95 | Ehlers-Danlos syndrome, classic type, | 130000 |
| COL6A1 | 128.3 | 0.99 | 0.97 | Bethlem myopathy 1 | 158810 |
| COL6A1 | 128.3 | 0.99 | 0.97 | Ullrich congenital muscular dystrophy 1 | 254090 |
| COL6A2 | 132.4 | 1 | 0.98 | Bethlem myopathy 1 | 158810 |
| COL6A2 | 132.4 | 1 | 0.98 | Ullrich congenital muscular dystrophy 1 | 254090 |
| COL6A2 | 132.4 | 1 | 0.98 | ?Myosclerosis, congenital, | 255600 |
| COL6A3 | 145.4 | 1 | 0.99 | Bethlem myopathy 1 | 158810 |
| COL6A3 | 145.4 | 1 | 0.99 | Dystonia 27 | 616411 |
| COL6A3 | 145.4 | 1 | 0.99 | Ullrich congenital muscular dystrophy 1 | 254090 |
| COL7A1 | 114.8 | 0.99 | 0.97 | EBD inversa, | 226600 |
| COL7A1 | 114.8 | 0.99 | 0.97 | EBD, Bart type, | 132000 |
| COL7A1 | 114.8 | 0.99 | 0.97 | EBD, localisata variant | 132000 |
| COL7A1 | 114.8 | 0.99 | 0.97 | Epidermolysis bullosa dystrophica, AD, | 131750 |
| COL7A1 | 114.8 | 0.99 | 0.97 | Epidermolysis bullosa dystrophica, AR, | 226600 |
| COL7A1 | 114.8 | 0.99 | 0.97 | Epidermolysis bullosa pruriginosa, | 604129 |
| COL7A1 | 114.8 | 0.99 | 0.97 | Epidermolysis bullosa, pretibial, | 131850 |
| COL7A1 | 114.8 | 0.99 | 0.97 | Toenail dystrophy, isolated, | 607523 |
| COL7A1 | 114.8 | 0.99 | 0.97 | Transient bullous of the newborn, | 131705 |
| COL8A2 | 28.7 | 0.87 | 0.7 | Corneal dystrophy, Fuchs endothelial, 1 | 136800 |
| COL8A2 | 28.7 | 0.87 | 0.7 | Corneal dystrophy, posterior polymorphous 2 | 609140 |
| COL9A1 | 100.3 | 0.99 | 0.95 | Stickler syndrome, type IV, | 614134 |
| COL9A1 | 100.3 | 0.99 | 0.95 | /?Epiphyseal dysplasia, multiple, 6 | 614135 |
| COL9A2 | 52.7 | 0.96 | 0.88 | Epiphyseal dysplasia, multiple, 2 | 600204 |
| COL9A2 | 52.7 | 0.96 | 0.88 | ?Stickler syndrome, type V, | 614284 |
| COL9A2 | 52.7 | 0.96 | 0.88 | {Intervertebral disc disease, susceptibility to}, | 603932 |
| COL9A3 | 62.2 | 0.96 | 0.87 | Epiphyseal dysplasia, multiple, 3 with or without myopathy, | 600969 |
| COL9A3 | 62.2 | 0.96 | 0.87 | {Intervertebral disc disease, susceptibility to}, | 603932 |
| COLEC11 | 168 | 1 | 1 | 3MC syndrome 2 | 265050 |
| COLQ | 96.9 | 1 | 0.94 | Myasthenic syndrome, congenital, 5 | 603034 |
| COMP | 114.5 | 0.93 | 0.92 | Epiphyseal dysplasia, multiple, 1 | 132400 |
| COMP | 114.5 | 0.93 | 0.92 | Pseudoachondroplasia, | 177170 |
| COQ2 | 68.4 | 0.96 | 0.93 | Coenzyme Q10 deficiency, primary, 1 | 607426 |
| COQ2 | 68.4 | 0.96 | 0.93 | {Multiple system atrophy, susceptibility to}, | 146500 |
| COQ4 | 76 | 0.86 | 0.83 | Coenzyme Q10 deficiency, primary, 7 | 616276 |
| COQ6 | 114.7 | 0.99 | 0.96 | Coenzyme Q10 deficiency, primary, 6 | 614650 |
| COQ9 | 81.4 | 1 | 0.94 | Coenzyme Q10 deficiency, primary, 5 | 614654 |
| CORIN | 150.7 | 0.99 | 0.98 | Preeclampsia/eclampsia 5 | 614595 |
| CORO1A | 144.5 | 0.97 | 0.92 | Immunodeficiency 8 | 615401 |
| COX10 | 194.9 | 1 | 1 | Leigh syndrome due to mitochondrial COX4 deficiency, | 256000 |
| COX10 | 194.9 | 1 | 1 | Mitochondrial complex IV deficiency, | 220110 |
| COX15 | 86.6 | 1 | 0.98 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 |
| COX15 | 86.6 | 1 | 0.98 | Leigh syndrome due to cytochrome c oxidase deficiency, | 256000 |
| COX20 | 42.6 | 0.89 | 0.61 | Mitochondrial complex IV deficiency, | 220110 |
| COX4I2 | 91.9 | 1 | 1 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, | 612714 |
| COX6A1 | 154.4 | 1 | 1 | Charcot-Marie-Tooth disease, recessive intermediate D, | 616039 |
| COX6B1 | 126.5 | 1 | 1 | Mitochondrial complex IV deficiency, | 220110 |
| COX7B | 52.3 | 0.77 | 0.42 | Linear skin defects with multiple congenital anomalies, | 300887 |
| CP | 115.4 | 0.96 | 0.88 | Cerebellar ataxia, | 604290 |
| CP | 115.4 | 0.96 | 0.88 | Hemosiderosis, systemic, due to aceruloplasminemia, | 604290 |
| CP | 115.4 | 0.96 | 0.88 | [Hypoceruloplasminemia, hereditary], | 604290 |
| CPA6 | 113.8 | 1 | 1 | Epilepsy, familial temporal lobe, 5 | 614417 |
| CPA6 | 113.8 | 1 | 1 | Febrile seizures, familial, 11 | 614418 |
| CPN1 | 109.3 | 0.99 | 0.97 | Carboxypeptidase N deficiency, | 212070 |
| CPOX | 95.3 | 0.96 | 0.81 | Coproporphyria, | 121300 |
| CPOX | 95.3 | 0.96 | 0.81 | Harderoporphyria, | 121300 |
| CPS1 | 133 | 1 | 0.99 | Carbamoylphosphate synthetase I deficiency, | 237300 |
| CPS1 | 133 | 1 | 0.99 | {Pulmonary hypertension, neonatal, susceptibility to}, | 615371 |
| CPS1 | 133 | 1 | 0.99 | {Venoocclusive disease after bone marrow transplantation} | 615371 |
| CPT1A | 151 | 1 | 0.97 | CPT deficiency, hepatic, type IA, | 255120 |
| CPT2 | 136.9 | 0.98 | 0.96 | CPT deficiency, hepatic, type II, | 600649 |
| CPT2 | 136.9 | 0.98 | 0.96 | CPT II deficiency, lethal neonatal, | 608836 |
| CPT2 | 136.9 | 0.98 | 0.96 | Myopathy due to CPT II deficiency, | 255110 |
| CPT2 | 136.9 | 0.98 | 0.96 | {Encephalopathy, acute, infection-induced, 4 susceptibility to}, | 614212 |
| CR2 | 145.2 | 1 | 0.99 | Immunodeficiency, common variable, 7 | 614699 |
| CR2 | 145.2 | 1 | 0.99 | {Systemic lupus erythematosus, susceptibility to, 9}, | 610927 |
| CRADD | 97.9 | 0.98 | 0.95 | Mental retardation, autosomal recessive 34 | 614499 |
| CRB1 | 189.4 | 1 | 1 | Leber congenital amaurosis 8 | 613835 |
| CRB1 | 189.4 | 1 | 1 | Pigmented paravenous chorioretinal atrophy, | 172870 |
| CRB1 | 189.4 | 1 | 1 | Retinitis pigmentosa-12, autosomal recessive, | 600105 |
| CRB2 | 92 | 0.99 | 0.93 | Focal segmental glomerulosclerosis 9 | 616220 |
| CRB2 | 92 | 0.99 | 0.93 | Ventriculomegaly with cystic kidney disease, | 219730 |
| CRBN | 126.2 | 1 | 0.93 | Mental retardation, autosomal recessive 2 | 607417 |
| CREB1 | 116.1 | 0.99 | 0.86 | Histiocytoma, angiomatoid fibrous, somatic, | 612160 |
| CREBBP | 115.7 | 0.99 | 0.95 | Rubinstein-Taybi syndrome, | 180849 |
| CRELD1 | 93.5 | 1 | 1 | Atrioventricular septal defect, partial, with heterotaxy syndrome, | 606217 |
| CRELD1 | 93.5 | 1 | 1 | {Atrioventricular septal defect, susceptibility to, 2}, | 606217 |
| CRIPT | 34.9 | 0.93 | 0.67 | Short stature with microcephaly and distinctive facies, | 615789 |
| CRLF1 | 94.7 | 0.9 | 0.88 | Cold-induced sweating syndrome 1 | 272430 |
| CRTAP | 88.1 | 1 | 0.92 | Osteogenesis imperfecta, type VII, | 610682 |
| CRTC1 | 114.8 | 0.97 | 0.89 | Mucoepidermoid salivary gland carcinoma | 610682 |
| CRX | 93.6 | 0.99 | 0.97 | Cone-rod retinal dystrophy-2, | 120970 |
| CRX | 93.6 | 0.99 | 0.97 | Leber congenital amaurosis 7 | 613829 |
| CRYAA | 101.3 | 0.92 | 0.83 | Cataract 9 multiple types, | 604219 |
| CRYAB | 102.6 | 0.98 | 0.93 | Cardiomyopathy, dilated, 1II, | 615184 |
| CRYAB | 102.6 | 0.98 | 0.93 | Cataract 16 multiple types, | 613763 |
| CRYAB | 102.6 | 0.98 | 0.93 | Myopathy, myofibrillar, 2 | 608810 |
| CRYAB | 102.6 | 0.98 | 0.93 | Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related, | 613869 |
| CRYBA1 | 120.6 | 1 | 0.99 | Cataract 10 multiple types, | 600881 |
| CRYBA4 | 97.3 | 1 | 1 | Cataract 23 | 610425 |
| CRYBB1 | 100.8 | 1 | 0.98 | Cataract 17 multiple types, | 611544 |
| CRYBB2 | 146.5 | 1 | 1 | Cataract 3 multiple types, | 601547 |
| CRYBB3 | 113.2 | 1 | 1 | Cataract 22 autosomal recessive, | 609741 |
| CRYGB | 86.9 | 1 | 0.98 | Cataract 39 multiple types, autosomal dominant, | 615188 |
| CRYGC | 109.4 | 1 | 1 | Cataract 2 multiple types, | 604307 |
| CRYGD | 77.7 | 1 | 1 | Cataract 4 multiple types, | 115700 |
| CRYGS | 112 | 0.94 | 0.83 | Cataract 20 multiple types, | 116100 |
| CRYM | 79 | 1 | 0.98 | Deafness, autosomal dominant 40 | 616357 |
| CSF1R | 108.8 | 0.99 | 0.97 | Leukoencephalopathy, diffuse hereditary, with spheroids, | 221820 |
| CSF2RA | 52 | 0.89 | 0.85 | Surfactant metabolism dysfunction, pulmonary, 4 | 300770 |
| CSF2RB | 78.2 | 1 | 0.99 | Surfactant metabolism dysfunction, pulmonary, 5 | 614370 |
| CSNK1D | 149.8 | 0.94 | 0.92 | Advanced sleep-phase syndrome, familial, 2 | 615224 |
| CSNK2A1 | 112.5 | 0.96 | 0.84 | Okur-Chung neurodevelopmental syndrome, | 617062 |
| CSNK2A1 | 112.5 | 0.96 | 0.84 | Glaucoma, primary congenital (Lee -2011 Mol Vis 17,3583) | 617062 |
| CSPP1 | 97.8 | 0.99 | 0.93 | Joubert syndrome 21 | 615636 |
| CSRP3 | 100 | 1 | 0.99 | Cardiomyopathy, hypertrophic, 12 | 612124 |
| CSRP3 | 100 | 1 | 0.99 | ?Cardiomyopathy, dilated, 1M, | 607482 |
| CST3 | 98.8 | 0.9 | 0.82 | Cerebral amyloid angiopathy, | 105150 |
| CST3 | 98.8 | 0.9 | 0.82 | {Macular degeneration, age-related, 11}, | 611953 |
| CSTA | 92.5 | 1 | 0.99 | Peeling skin syndrome 4 | 607936 |
| CSTB | 90.3 | 1 | 1 | Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), | 254800 |
| CTC1 | 91.6 | 1 | 0.99 | Cerebroretinal microangiopathy with calcifications and cysts, | 612199 |
| CTCF | 139.6 | 0.97 | 0.96 | Mental retardation, autosomal dominant 21 | 615502 |
| CTDP1 | 92.7 | 0.87 | 0.83 | Congenital cataracts, facial dysmorphism, and neuropathy, | 604168 |
| CTH | 156.9 | 1 | 0.99 | Cystathioninuria, | 219500 |
| CTH | 156.9 | 1 | 0.99 | Homocysteine, total plasma, elevated | 219500 |
| CTHRC1 | 88.4 | 0.98 | 0.81 | Barrett esophagus/esophageal adenocarcinoma, | 614266 |
| CTLA4 | 176.4 | 1 | 1 | Autoimmune lymphoproliferative syndrome, type V, | 616100 |
| CTLA4 | 176.4 | 1 | 1 | {Celiac disease, susceptibility to, 3}, | 609755 |
| CTLA4 | 176.4 | 1 | 1 | {Diabetes mellitus, insulin-dependent, 12}, | 601388 |
| CTLA4 | 176.4 | 1 | 1 | {Hashimoto thyroiditis}, | 140300 |
| CTLA4 | 176.4 | 1 | 1 | {Systemic lupus erythematosus, susceptibility to}, | 152700 |
| CTNNA1 | 120.4 | 0.99 | 0.96 | Macular dystrophy,patterned, | 608970 |
| CTNNA1 | 120.4 | 0.99 | 0.96 | Gastric cancer, diffuse (Majewski -2012 J Pathol epub) | 608970 |
| CTNNA3 | 136.8 | 1 | 0.99 | Arrhythmogenic right ventricular dysplasia, familial, 13 | 615616 |
| CTNNB1 | 142.1 | 1 | 1 | Colorectal cancer, somatic, | 114500 |
| CTNNB1 | 142.1 | 1 | 1 | Hepatocellular carcinoma, somatic, | 114550 |
| CTNNB1 | 142.1 | 1 | 1 | Mental retardation, autosomal dominant 19 | 615075 |
| CTNNB1 | 142.1 | 1 | 1 | Ovarian cancer, somatic, | 167000 |
| CTNNB1 | 142.1 | 1 | 1 | Pilomatricoma, somatic, | 132600 |
| CTNS | 113.8 | 1 | 1 | Cystinosis, atypical nephropathic, | 219800 |
| CTNS | 113.8 | 1 | 1 | Cystinosis, late-onset juvenile or adolescent nephropathic, | 219900 |
| CTNS | 113.8 | 1 | 1 | Cystinosis, nephropathic, | 219800 |
| CTNS | 113.8 | 1 | 1 | Cystinosis, ocular nonnephropathic, | 219750 |
| CTPS1 | 121 | 1 | 1 | Immunodeficiency 24 | 615897 |
| CTSA | 113.1 | 1 | 1 | Galactosialidosis, | 256540 |
| CTSC | 119.9 | 1 | 1 | Haim-Munk syndrome, | 245010 |
| CTSC | 119.9 | 1 | 1 | Papillon-Lefevre syndrome, | 245000 |
| CTSC | 119.9 | 1 | 1 | Periodontitis 1 juvenile, | 170650 |
| CTSD | 152.1 | 1 | 0.97 | Ceroid lipofuscinosis, neuronal, 10 | 610127 |
| CTSF | 92.5 | 0.91 | 0.81 | Ceroid lipofuscinosis, neuronal, 13 Kufs type, | 615362 |
| CTSK | 98.4 | 1 | 1 | Pycnodysostosis, | 265800 |
| CUBN | 113 | 0.99 | 0.96 | Megaloblastic anemia-1, Finnish type, | 261100 |
| CUL3 | 102.1 | 0.95 | 0.9 | Pseudohypoaldosteronism, type IIE, | 614496 |
| CUL4B | 89.5 | 0.98 | 0.96 | Mental retardation, X-linked, syndromic 15 (Cabezas type), | 300354 |
| CUL7 | 122.3 | 1 | 0.98 | 3-M syndrome 1 | 273750 |
| CXCR4 | 149.4 | 1 | 0.97 | Myelokathexis, isolated | 273750 |
| CXCR4 | 149.4 | 1 | 0.97 | WHIM syndrome, | 193670 |
| CYB5A | 110.2 | 1 | 1 | Methemoglobinemia, type IV, | 250790 |
| CYB5R3 | 157.7 | 0.98 | 0.98 | Methemoglobinemia, type I, | 250800 |
| CYB5R3 | 157.7 | 0.98 | 0.98 | Methemoglobinemia, type II, | 250800 |
| CYBA | 83.7 | 0.81 | 0.72 | Chronic granulomatous disease, autosomal, due to deficiency of CYBA, | 233690 |
| CYBB | 141.6 | 1 | 1 | Chronic granulomatous disease, X-linked, | 306400 |
| CYBB | 141.6 | 1 | 1 | Immunodeficiency 34 mycobacteriosis, X-linked, | 300645 |
| CYC1 | 159.5 | 0.87 | 0.86 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 |
| CYCS | 66.6 | 0.99 | 0.99 | Thrombocytopenia 4 | 612004 |
| CYLD | 108.2 | 0.95 | 0.93 | Brooke-Spiegler syndrome, | 605041 |
| CYLD | 108.2 | 0.95 | 0.93 | Cylindromatosis, familial, | 132700 |
| CYLD | 108.2 | 0.95 | 0.93 | Trichoepithelioma, multiple familial, 1 | 601606 |
| CYP11A1 | 101.7 | 0.99 | 0.96 | Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, | 613743 |
| CYP11B1 | 140.1 | 1 | 1 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, | 202010 |
| CYP11B1 | 140.1 | 1 | 1 | Aldosteronism, glucocorticoid-remediable, | 103900 |
| CYP11B2 | 150.4 | 1 | 1 | Aldosterone to renin ratio raised | 103900 |
| CYP11B2 | 150.4 | 1 | 1 | Hypoaldosteronism, congenital, due to CMO I deficiency, | 203400 |
| CYP11B2 | 150.4 | 1 | 1 | Hypoaldosteronism, congenital, due to CMO II deficiency, | 610600 |
| CYP11B2 | 150.4 | 1 | 1 | {Low renin hypertension, susceptibility to} | 610600 |
| CYP17A1 | 109.4 | 1 | 0.99 | 17,20-lyase deficiency, isolated, | 202110 |
| CYP17A1 | 109.4 | 1 | 0.99 | 17-alpha-hydroxylase/17,20-lyase deficiency, | 202110 |
| CYP19A1 | 163.6 | 1 | 1 | Aromatase deficiency, | 613546 |
| CYP19A1 | 163.6 | 1 | 1 | Aromatase excess syndrome, | 139300 |
| CYP1B1 | 98.6 | 1 | 0.94 | Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, | 231300 |
| CYP1B1 | 98.6 | 1 | 0.94 | Peters anomaly, | 604229 |
| CYP21A2 | 11 | 0.48 | 0.09 | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, | 201910 |
| CYP21A2 | 11 | 0.48 | 0.09 | Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, | 201910 |
| CYP24A1 | 148.9 | 1 | 0.99 | Hypercalcemia, infantile, | 143880 |
| CYP26B1 | 146.7 | 1 | 0.99 | Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, | 614416 |
| CYP26C1 | 65.5 | 1 | 0.97 | Focal facial dermal dysplasia 4 | 614974 |
| CYP27A1 | 158.7 | 0.94 | 0.93 | Cerebrotendinous xanthomatosis, | 213700 |
| CYP27B1 | 98.6 | 0.99 | 0.94 | Vitamin D-dependent rickets, type I, | 264700 |
| CYP2A6 | 119.3 | 1 | 0.96 | Coumarin resistance, | 122700 |
| CYP2A6 | 119.3 | 1 | 0.96 | {Lung cancer, resistance to}, | 211980 |
| CYP2A6 | 119.3 | 1 | 0.96 | {Nicotine addiction, protection from}, | 188890 |
| CYP2C8 | 103.4 | 0.97 | 0.95 | Rhabdomyolysis, cerivastatin-induced, | 601129 |
| CYP2R1 | 119.6 | 0.96 | 0.88 | Rickets due to defect in vitamin D 25-hydroxylation, | 600081 |
| CYP2U1 | 115.4 | 0.95 | 0.92 | Spastic paraplegia 56 autosomal recessive, | 615030 |
| CYP4F22 | 103.4 | 1 | 0.97 | Ichthyosis, congenital, autosomal recessive 5 | 604777 |
| CYP4V2 | 152 | 1 | 0.98 | Bietti crystalline corneoretinal dystrophy, | 210370 |
| CYP7B1 | 88 | 0.96 | 0.88 | Bile acid synthesis defect, congenital, 3 | 613812 |
| CYP7B1 | 88 | 0.96 | 0.88 | Spastic paraplegia 5A, autosomal recessive, | 270800 |
| D2HGDH | 112.5 | 0.95 | 0.92 | D-2-hydroxyglutaric aciduria, | 600721 |
| DAG1 | 164.9 | 1 | 1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 | 616538 |
| DAG1 | 164.9 | 1 | 1 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 | 613818 |
| DARS | 93.3 | 0.99 | 0.93 | Hypomyelination with brainstem and spinal cord involvement and leg spasticity, | 615281 |
| DARS2 | 112.2 | 1 | 0.98 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, | 611105 |
| DBH | 124.5 | 1 | 0.99 | Dopamine beta-hydroxylase deficiency, | 223360 |
| DBH | 124.5 | 1 | 0.99 | [Dopamine-beta-hydroxylase activity levels, plasma] | 223360 |
| DBT | 98.9 | 0.94 | 0.94 | Maple syrup urine disease, type II, | 248600 |
| DCAF17 | 84.2 | 1 | 0.91 | Woodhouse-Sakati syndrome, | 241080 |
| DCC | 130.5 | 1 | 1 | Colorectal cancer, somatic, | 114500 |
| DCC | 130.5 | 1 | 1 | Esophageal carcinoma, somatic | 133239 |
| DCC | 130.5 | 1 | 1 | Mirror movements 1 | 157600 |
| DCDC2 | 125.6 | 1 | 0.98 | Nephronophthisis 19 | 616217 |
| DCDC2 | 125.6 | 1 | 0.98 | ?Deafness, autosomal recessive 66 | 610212 |
| DCHS1 | 126.6 | 0.98 | 0.97 | Mitral valve prolapse 2 | 607829 |
| DCHS1 | 126.6 | 0.98 | 0.97 | Van Maldergem syndrome 1 | 601390 |
| DCLRE1C | 117.3 | 0.96 | 0.9 | Omenn syndrome, | 603554 |
| DCLRE1C | 117.3 | 0.96 | 0.9 | Severe combined immunodeficiency, Athabascan type, | 602450 |
| DCN | 133 | 0.95 | 0.94 | Corneal dystrophy, congenital stromal, | 610048 |
| DCPS | 118.2 | 1 | 0.99 | Al-Raqad syndrome, | 616459 |
| DCTN1 | 110.2 | 1 | 0.99 | Neuropathy, distal hereditary motor, type VIIB, | 607641 |
| DCTN1 | 110.2 | 1 | 0.99 | Perry syndrome, | 168605 |
| DCTN1 | 110.2 | 1 | 0.99 | {Amyotrophic lateral sclerosis, susceptibility to}, | 105400 |
| DCX | 139.7 | 1 | 1 | Lissencephaly, X-linked, | 300067 |
| DCX | 139.7 | 1 | 1 | Subcortical laminal heteropia, X-linked, | 300067 |
| DDB2 | 127.9 | 1 | 0.99 | Xeroderma pigmentosum, group E, DDB-negative subtype, | 278740 |
| DDC | 97.6 | 1 | 0.97 | Aromatic L-amino acid decarboxylase deficiency, | 608643 |
| DDHD1 | 132.8 | 0.97 | 0.93 | Spastic paraplegia 28 autosomal recessive, | 609340 |
| DDHD2 | 148.2 | 1 | 0.99 | Spastic paraplegia 54 autosomal recessive, | 615033 |
| DDR2 | 133.7 | 1 | 0.98 | Spondylometaepiphyseal dysplasia, short limb-hand type, | 271665 |
| DDX11 | 76.1 | 0.76 | 0.73 | Warsaw breakage syndrome, | 613398 |
| DDX3X | 114.8 | 0.99 | 0.97 | Mental retardation, X-linked 102 | 300958 |
| DDX58 | 124.3 | 0.99 | 0.98 | Singleton-Merten syndrome 2 | 616298 |
| DDX59 | 143.8 | 0.99 | 0.98 | Orofaciodigital syndrome V, | 174300 |
| DEAF1 | 126.7 | 0.87 | 0.83 | Mental retardation, autosomal dominant 24 | 615828 |
| DEPDC5 | 127.2 | 0.99 | 0.99 | Epilepsy, familial focal, with variable foci, | 604364 |
| DES | 105.1 | 1 | 0.96 | Cardiomyopathy, dilated, 1I, | 604765 |
| DES | 105.1 | 1 | 0.96 | Myopathy, myofibrillar, 1 | 601419 |
| DES | 105.1 | 1 | 0.96 | Scapuloperoneal syndrome, neurogenic, Kaeser type, | 181400 |
| DES | 105.1 | 1 | 0.96 | ?Muscular dystrophy, limb-girdle, type 2R, | 615325 |
| DFNA5 | 96.2 | 1 | 0.97 | Deafness, autosomal dominant 5 | 600994 |
| DFNB59 | 127.4 | 1 | 1 | Deafness, autosomal recessive 59 | 610220 |
| DGKE | 126.1 | 0.96 | 0.93 | Nephrotic syndrome, type 7 | 615008 |
| DGKE | 126.1 | 0.96 | 0.93 | {Hemolytic uremic syndrome, atypical, susceptibility to, 7}, | 615008 |
| DGUOK | 117.3 | 1 | 0.97 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), | 251880 |
| DHCR24 | 154.9 | 1 | 1 | Desmosterolosis, | 602398 |
| DHCR7 | 147.7 | 1 | 1 | Smith-Lemli-Opitz syndrome, | 270400 |
| DHDDS | 89.1 | 0.96 | 0.92 | Retinitis pigmentosa 59 | 613861 |
| DHFR | 44.3 | 0.79 | 0.69 | Megaloblastic anemia due to dihydrofolate reductase deficiency, | 613839 |
| DHH | 92.5 | 1 | 1 | 46XY partial gonadal dysgenesis, with minifascicular neuropathy, | 607080 |
| DHH | 92.5 | 1 | 1 | 46XY sex reversal 7 | 233420 |
| DHODH | 91.4 | 1 | 1 | Miller syndrome, | 263750 |
| DHTKD1 | 130.2 | 0.99 | 0.98 | 2-aminoadipic 2-oxoadipic aciduria, | 204750 |
| DHTKD1 | 130.2 | 0.99 | 0.98 | ?Charcot-Marie-Tooth disease, axonal, type 2Q, | 615025 |
| DIABLO | 200.7 | 1 | 1 | Deafness, autosomal dominant 64 | 614152 |
| DIAPH1 | 108.4 | 0.99 | 0.96 | Deafness, autosomal dominant 1 | 124900 |
| DIAPH1 | 108.4 | 0.99 | 0.96 | Seizures, cortical blindness, microcephaly syndrome, | 616632 |
| DIAPH2 | 71.6 | 0.94 | 0.89 | Premature ovarian failure, | 300511 |
| DIAPH3 | 74.5 | 0.96 | 0.86 | Auditory neuropathy, autosomal dominant, 1 | 609129 |
| DICER1 | 138 | 0.99 | 0.96 | Goiter, multinodular 1 with or without Sertoli-Leydig cell tumors, | 138800 |
| DICER1 | 138 | 0.99 | 0.96 | Pleuropulmonary blastoma, | 601200 |
| DICER1 | 138 | 0.99 | 0.96 | Rhabdomyosarcoma, embryonal, 2 | 180295 |
| DIP2B | 146.6 | 0.99 | 0.97 | Mental retardation, FRA12A type, | 136630 |
| DIS3L2 | 146.8 | 1 | 0.97 | Perlman syndrome, | 267000 |
| DKC1 | 143.3 | 1 | 1 | Dyskeratosis congenita, X-linked, | 305000 |
| DLAT | 78.7 | 1 | 0.91 | Pyruvate dehydrogenase E2 deficiency, | 245348 |
| DLC1 | 167.4 | 1 | 0.98 | Colorectal cancer, somatic, | 114500 |
| DLD | 110.9 | 0.98 | 0.97 | Dihydrolipoamide dehydrogenase deficiency, | 246900 |
| DLG3 | 114.2 | 1 | 0.98 | Mental retardation, X-linked 90 | 300850 |
| DLL3 | 58.5 | 0.88 | 0.76 | Spondylocostal dysostosis 1 autosomal recessive, | 277300 |
| DLL4 | 170.9 | 0.99 | 0.97 | Adams-Oliver syndrome 6 | 616589 |
| DLX3 | 102.9 | 1 | 0.99 | Amelogenesis imperfecta, type IV, | 104510 |
| DLX3 | 102.9 | 1 | 0.99 | Trichodontoosseous syndrome, | 190320 |
| DMD | 152.9 | 0.99 | 0.99 | Becker muscular dystrophy, | 300376 |
| DMD | 152.9 | 0.99 | 0.99 | Cardiomyopathy, dilated, 3B, | 302045 |
| DMD | 152.9 | 0.99 | 0.99 | Duchenne muscular dystrophy, | 310200 |
| DMGDH | 138.4 | 0.98 | 0.95 | Dimethylglycine dehydrogenase deficiency, | 605850 |
| DMP1 | 138.4 | 0.97 | 0.96 | Hypophosphatemic rickets, AR, | 241520 |
| DMPK | 98 | 0.97 | 0.89 | Myotonic dystrophy 1 | 160900 |
| DNA2 | 120.1 | 0.99 | 0.95 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 | 615156 |
| DNA2 | 120.1 | 0.99 | 0.95 | ?Seckel syndrome 8 | 615807 |
| DNAAF1 | 109.9 | 1 | 0.96 | Ciliary dyskinesia, primary, 13 | 613193 |
| DNAAF2 | 90.7 | 1 | 0.94 | Ciliary dyskinesia, primary, 10 | 612518 |
| DNAAF3 | 74.5 | 0.99 | 0.9 | Ciliary dyskinesia, primary, 2 | 606763 |
| DNAH11 | 121.4 | 0.99 | 0.97 | Ciliary dyskinesia, primary, 7 with or without situs inversus, | 611884 |
| DNAH5 | 114.9 | 0.99 | 0.98 | Ciliary dyskinesia, primary, 3 with or without situs inversus, | 608644 |
| DNAI1 | 102.1 | 0.97 | 0.95 | Ciliary dyskinesia, primary, 1 with or without situs inversus, | 244400 |
| DNAI2 | 129.9 | 0.95 | 0.93 | Ciliary dyskinesia, primary, 9 with or without situs inversus, | 612444 |
| DNAJB2 | 92.7 | 1 | 0.99 | Spinal muscular atrophy, distal, autosomal recessive, 5 | 614881 |
| DNAJB6 | 53.2 | 0.93 | 0.78 | Muscular dystrophy, limb-girdle, type 1E, | 603511 |
| DNAJC19 | 84.5 | 0.99 | 0.98 | 3-methylglutaconic aciduria, type V, | 610198 |
| DNAJC21 | 112.7 | 0.98 | 0.96 | Bone marrow failure syndrome 3 | 617052 |
| DNAJC5 | 166.2 | 1 | 1 | Ceroid lipofuscinosis, neuronal, 4 Parry type, | 162350 |
| DNAJC6 | 147.4 | 0.99 | 0.98 | Parkinson disease 19 juvenile-onset, | 615528 |
| DNAL1 | 92.5 | 0.99 | 0.73 | Ciliary dyskinesia, primary, 16 | 614017 |
| DNASE1L3 | 121.9 | 1 | 1 | Systemic lupus erythematosus 16 | 614420 |
| DNM1 | 138.3 | 0.93 | 0.89 | Epileptic encephalopathy, early infantile, 31 | 616346 |
| DNM1L | 103.1 | 0.99 | 0.91 | Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, | 614388 |
| DNM2 | 110.9 | 0.96 | 0.94 | Charcot-Marie-Tooth disease, axonal, type 2M, | 606482 |
| DNM2 | 110.9 | 0.96 | 0.94 | Charcot-Marie-Tooth disease, dominant intermediate B, | 606482 |
| DNM2 | 110.9 | 0.96 | 0.94 | Lethal congenital contracture syndrome 5 | 615368 |
| DNM2 | 110.9 | 0.96 | 0.94 | Myopathy, centronuclear, | 160150 |
| DNMT1 | 107 | 0.99 | 0.99 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, | 604121 |
| DNMT1 | 107 | 0.99 | 0.99 | Neuropathy, hereditary sensory, type IE, | 614116 |
| DNMT3A | 95.6 | 0.96 | 0.93 | Tatton-Brown-Rahman syndrome, | 615879 |
| DNMT3B | 109.3 | 1 | 0.99 | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | 242860 |
| DOCK2 | 126.7 | 1 | 1 | Immunodeficiency 40 | 616433 |
| DOCK6 | 105.3 | 0.99 | 0.96 | Adams-Oliver syndrome 2 | 614219 |
| DOCK7 | 101.1 | 0.96 | 0.93 | Epileptic encephalopathy, early infantile, 23 | 615859 |
| DOCK8 | 122.7 | 1 | 0.99 | Hyper-IgE recurrent infection syndrome, autosomal recessive, | 243700 |
| DOK7 | 77.5 | 0.96 | 0.91 | Myasthenic syndrome, congenital, 10 | 254300 |
| DOK7 | 77.5 | 0.96 | 0.91 | ?Fetal akinesia deformation sequence, | 208150 |
| DOLK | 153.7 | 1 | 0.99 | Congenital disorder of glycosylation, type Im, | 610768 |
| DPAGT1 | 96.6 | 1 | 1 | Congenital disorder of glycosylation, type Ij, | 608093 |
| DPAGT1 | 96.6 | 1 | 1 | Myasthenic syndrome, congenital, 13 with tubular aggregates, | 614750 |
| DPH1 | 148.2 | 1 | 0.99 | Developmental delay with short stature,dysmorphic features and sparse hair, | 616901 |
| DPM1 | 105.8 | 0.9 | 0.86 | Congenital disorder of glycosylation, type Ie, | 608799 |
| DPM2 | 94.2 | 1 | 0.99 | Congenital disorder of glycosylation, type Iu, | 615042 |
| DPM3 | 147.7 | 1 | 1 | Congenital disorder of glycosylation, type Io, | 612937 |
| DPP6 | 121.7 | 0.99 | 0.95 | Mental retardation, autosomal dominant 33 | 616311 |
| DPP6 | 121.7 | 0.99 | 0.95 | {Ventricular fibrillation, paroxysmal familial, 2}, | 612956 |
| DPY19L2 | 64.2 | 0.74 | 0.68 | Spermatogenic failure 9 | 613958 |
| DPYD | 145.1 | 0.95 | 0.93 | 5-fluorouracil toxicity, | 274270 |
| DPYD | 145.1 | 0.95 | 0.93 | Dihydropyrimidine dehydrogenase deficiency, | 274270 |
| DPYS | 109.1 | 1 | 0.99 | Dihydropyrimidinuria, | 222748 |
| DRAM2 | 127.2 | 1 | 1 | Cone-rod dystrophy 21 | 616502 |
| DRC1 | 89 | 1 | 0.99 | Ciliary dyskinesia, primary, 21 | 615294 |
| DRD4 | 73.3 | 0.77 | 0.66 | Autonomic nervous system dysfunction | 615294 |
| DRD4 | 73.3 | 0.77 | 0.66 | [Novelty seeking personality], | 601696 |
| DRD4 | 73.3 | 0.77 | 0.66 | {Attention deficit-hyperactivity disorder}, | 143465 |
| DRD5 | 72.7 | 1 | 1 | Dystonia, primary cervical, | 126453 |
| DRD5 | 72.7 | 1 | 1 | {Attention deficit-hyperactivity disorder, susceptibility to}, | 143465 |
| DRD5 | 72.7 | 1 | 1 | {Blepharospasm, primary benign}, | 606798 |
| DSC2 | 124.3 | 0.99 | 0.95 | Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, | 606798 |
| DSC2 | 124.3 | 0.99 | 0.95 | Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, | 610476 |
| DSC2 | 124.3 | 0.99 | 0.95 | Arrhythmogenic right ventricular dysplasia 11 | 610476 |
| DSG1 | 152.5 | 0.98 | 0.97 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, | 615508 |
| DSG1 | 152.5 | 0.98 | 0.97 | Keratosis palmoplantaris striata I, AD, | 148700 |
| DSG2 | 115.3 | 1 | 0.99 | Arrhythmogenic right ventricular dysplasia 10 | 610193 |
| DSG2 | 115.3 | 1 | 0.99 | Cardiomyopathy, dilated, 1BB, | 612877 |
| DSG4 | 195.1 | 0.98 | 0.94 | Hypotrichosis 6 | 607903 |
| DSP | 122.6 | 1 | 0.98 | Arrhythmogenic right ventricular dysplasia 8 | 607450 |
| DSP | 122.6 | 1 | 0.98 | Cardiomyopathy, dilated, with woolly hair and keratoderma, | 605676 |
| DSP | 122.6 | 1 | 0.98 | Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, | 615821 |
| DSP | 122.6 | 1 | 0.98 | Epidermolysis bullosa, lethal acantholytic, | 609638 |
| DSP | 122.6 | 1 | 0.98 | Keratosis palmoplantaris striata II, | 612908 |
| DSP | 122.6 | 1 | 0.98 | Skin fragility-woolly hair syndrome, | 607655 |
| DSPP | 134.7 | 1 | 1 | Deafness, autosomal dominant 39 with dentinogenesis, | 605594 |
| DSPP | 134.7 | 1 | 1 | Dentin dysplasia, type II, | 125420 |
| DSPP | 134.7 | 1 | 1 | Dentinogenesis imperfecta, Shields type II, | 125490 |
| DSPP | 134.7 | 1 | 1 | Dentinogenesis imperfecta, Shields type III, | 125500 |
| DST | 147.6 | 0.99 | 0.97 | Epidermolysis bullosa simplex, autosomal recessive 2 | 615425 |
| DST | 147.6 | 0.99 | 0.97 | ?Neuropathy, hereditary sensory and autonomic, type VI, | 614653 |
| DTNA | 146.8 | 1 | 1 | Left ventricular noncompaction 1 with or without congenital heart defects, | 604169 |
| DTNBP1 | 108.5 | 1 | 0.96 | Hermansky-Pudlak syndrome 7 | 614076 |
| DUOX2 | 116.1 | 0.94 | 0.92 | Thryoid dyshormonogenesis 6 | 607200 |
| DUOXA2 | 112.3 | 1 | 1 | Thyroid dyshormonogenesis 5 | 274900 |
| DUSP6 | 133.4 | 1 | 0.99 | Hypogonadotropic hypogonadism 19 with or without anosmia, | 615269 |
| DVL1 | 95.1 | 0.98 | 0.91 | Robinow syndrome, autosomal dominant 2 | 616331 |
| DVL3 | 129.7 | 1 | 0.99 | Robinow syndrome, autosomal dominant 3, | 616894 |
| DYM | 101.5 | 0.95 | 0.9 | Dyggve-Melchior-Clausen disease, | 223800 |
| DYM | 101.5 | 0.95 | 0.9 | Smith-McCort dysplasia, | 607326 |
| DYNC1H1 | 157.8 | 1 | 0.99 | Charcot-Marie-Tooth disease, axonal, type 20 | 614228 |
| DYNC1H1 | 157.8 | 1 | 0.99 | Mental retardation, autosomal dominant 13 | 614563 |
| DYNC1H1 | 157.8 | 1 | 0.99 | Spinal muscular atrophy, lower extremity-predominant 1 AD, | 158600 |
| DYNC2H1 | 83 | 0.94 | 0.83 | Short-rib thoracic dysplasia 3 with or without polydactyly, | 613091 |
| DYNC2LI1 | 89.2 | 1 | 0.95 | Short-rib thoracic dysplasia 15 with polydactyly, | 617088 |
| DYRK1A | 136.7 | 1 | 1 | Mental retardation, autosomal dominant 7 | 614104 |
| DYRK1B | 86.2 | 0.94 | 0.93 | Abdominal obesity-metabolic syndrome 3 | 615812 |
| DYSF | 114.2 | 1 | 0.99 | Miyoshi muscular dystrophy 1 | 254130 |
| DYSF | 114.2 | 1 | 0.99 | Muscular dystrophy, limb-girdle, type 2B, | 253601 |
| DYSF | 114.2 | 1 | 0.99 | Myopathy, distal, with anterior tibial onset, | 606768 |
| DYX1C1 | 65.1 | 0.99 | 0.75 | Ciliary dyskinesia, primary, 25 | 615482 |
| DYX1C1 | 65.1 | 0.99 | 0.75 | {Dyslexia, susceptibility to, 1}, | 127700 |
| EARS2 | 78.8 | 0.98 | 0.96 | Combined oxidative phosphorylation deficiency 12 | 614924 |
| EBP | 80.2 | 1 | 0.96 | Chondrodysplasia punctata, X-linked dominant, | 302960 |
| EBP | 80.2 | 1 | 0.96 | MEND syndrome, | 300960 |
| ECE1 | 140.1 | 0.97 | 0.93 | Hirschsprung disease, cardiac defects, and autonomic dysfunction, | 613870 |
| ECE1 | 140.1 | 0.97 | 0.93 | {Hypertension, essential, susceptibility to}, | 145500 |
| ECEL1 | 83.6 | 0.87 | 0.83 | Arthrogryposis, distal, type 5D, | 615065 |
| ECHS1 | 108.4 | 1 | 1 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, | 616277 |
| ECM1 | 141.9 | 1 | 0.99 | Urbach-Wiethe disease, | 247100 |
| EDA | 103.5 | 0.97 | 0.8 | Ectodermal dysplasia 1 hypohidrotic, X-linked, | 305100 |
| EDA | 103.5 | 0.97 | 0.8 | Tooth agenesis, selective, X-linked 1 | 313500 |
| EDAR | 110.2 | 0.98 | 0.95 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, | 129490 |
| EDAR | 110.2 | 0.98 | 0.95 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, | 224900 |
| EDAR | 110.2 | 0.98 | 0.95 | [Hair morphology 1 hair thickness], | 612630 |
| EDARADD | 87.4 | 0.99 | 0.9 | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, | 614940 |
| EDARADD | 87.4 | 0.99 | 0.9 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, | 614941 |
| EDN1 | 122.3 | 1 | 1 | Auriculocondylar syndrome 3 | 615706 |
| EDN1 | 122.3 | 1 | 1 | Question mark ears, isolated, | 612798 |
| EDN1 | 122.3 | 1 | 1 | {High density lipoprotein cholesterol level QTL 7} | 612798 |
| EDN3 | 108.6 | 1 | 0.93 | Central hypoventilation syndrome, congenital, | 209880 |
| EDN3 | 108.6 | 1 | 0.93 | Waardenburg syndrome, type 4B, | 613265 |
| EDN3 | 108.6 | 1 | 0.93 | {Hirschsprung disease, susceptibility to, 4}, | 613712 |
| EDNRA | 166.5 | 1 | 0.98 | Mandibulofacial dysostosis with alopecia, | 616367 |
| EDNRA | 166.5 | 1 | 0.98 | {Migraine, resistance to}, | 157300 |
| EDNRB | 115.6 | 0.93 | 0.93 | ABCD syndrome, | 600501 |
| EDNRB | 115.6 | 0.93 | 0.93 | Waardenburg syndrome, type 4A, | 277580 |
| EDNRB | 115.6 | 0.93 | 0.93 | {Hirschsprung disease, susceptibility to, 2}, | 600155 |
| EEF1A2 | 168.9 | 0.99 | 0.9 | Epileptic encephalopathy, early infantile, 33 | 616409 |
| EEF1A2 | 168.9 | 0.99 | 0.9 | Mental retardation, autosomal dominant 38 | 616393 |
| EFEMP1 | 166.6 | 1 | 0.97 | Doyne honeycomb degeneration of retina, | 126600 |
| EFEMP2 | 117.6 | 1 | 1 | Cutis laxa, autosomal recessive, type IB, | 614437 |
| EFNB1 | 147.4 | 1 | 1 | Craniofrontonasal dysplasia, | 304110 |
| EFTUD2 | 100.2 | 1 | 0.99 | Mandibulofacial dysostosis, Guion-Almeida type, | 610536 |
| EGF | 118.4 | 1 | 0.99 | Hypomagnesemia 4 renal, | 611718 |
| EGFR | 137.7 | 1 | 0.98 | Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, | 211980 |
| EGFR | 137.7 | 1 | 0.98 | Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, | 211980 |
| EGFR | 137.7 | 1 | 0.98 | ?Inflammatory skin and bowel disease, neonatal, 2 | 616069 |
| EGFR | 137.7 | 1 | 0.98 | {Nonsmall cell lung cancer, susceptibility to}, | 211980 |
| EGLN1 | 42.5 | 0.79 | 0.6 | Erythrocytosis, familial, 3 | 609820 |
| EGLN1 | 42.5 | 0.79 | 0.6 | [Hemoglobin, high altitude adaptation], | 609070 |
| EGR2 | 111.3 | 1 | 1 | Charcot-Marie-Tooth disease, type 1D, | 607678 |
| EGR2 | 111.3 | 1 | 1 | Dejerine-Sottas disease, | 145900 |
| EGR2 | 111.3 | 1 | 1 | Neuropathy, congenital hypomyelinating, 1 | 605253 |
| EHMT1 | 134.6 | 0.99 | 0.95 | Kleefstra syndrome, | 610253 |
| EIF2AK3 | 132.9 | 0.95 | 0.92 | Wolcott-Rallison syndrome, | 226980 |
| EIF2AK4 | 137.4 | 1 | 0.97 | Pulmonary venoocclusive disease 2 | 234810 |
| EIF2B1 | 118.8 | 1 | 1 | Leukoencephalopathy with vanishing white matter, | 603896 |
| EIF2B2 | 119.2 | 1 | 1 | Leukoencephalopathy with vanishing white matter, | 603896 |
| EIF2B2 | 119.2 | 1 | 1 | Ovarioleukodystrophy, | 603896 |
| EIF2B3 | 139.8 | 1 | 1 | Leukoencephalopathy with vanishing white matter, | 603896 |
| EIF2B4 | 114.8 | 0.99 | 0.96 | Leukoencephaly with vanishing white matter, | 603896 |
| EIF2B4 | 114.8 | 0.99 | 0.96 | Ovarioleukodystrophy, | 603896 |
| EIF2B5 | 105.7 | 1 | 0.98 | Leukoencephalopathy with vanishing white matter, | 603896 |
| EIF2B5 | 105.7 | 1 | 0.98 | Ovarioleukodystrophy, | 603896 |
| EIF4A3 | 101.1 | 1 | 0.99 | Robin sequence with cleft mandible and limb abnormalities, | 268305 |
| ELAC2 | 105.4 | 1 | 0.98 | Combined oxidative phosphorylation deficiency 17 | 615440 |
| ELAC2 | 105.4 | 1 | 0.98 | {Prostate cancer, hereditary, 2 susceptibility to}, | 614731 |
| ELANE | 90.8 | 0.99 | 0.96 | Neutropenia, cyclic, | 162800 |
| ELANE | 90.8 | 0.99 | 0.96 | Neutropenia, severe congenital 1 autosomal dominant, | 202700 |
| ELN | 91.1 | 0.99 | 0.96 | Cutis laxa, AD, | 123700 |
| ELN | 91.1 | 0.99 | 0.96 | Supravalvar aortic stenosis, | 185500 |
| ELOVL4 | 74.4 | 0.98 | 0.97 | Ichthyosis, spastic quadriplegia, and mental retardation, | 614457 |
| ELOVL4 | 74.4 | 0.98 | 0.97 | Stargardt disease 3 | 600110 |
| ELOVL4 | 74.4 | 0.98 | 0.97 | ?Spinocerebellar ataxia 34 | 133190 |
| ELOVL5 | 102.4 | 1 | 0.99 | Spinocerebellar ataxia 38 | 615957 |
| EMC1 | 109.4 | 1 | 0.99 | Cerebellar atrophy, visual impairment, and psychomotor retardation, | 616875 |
| EMD | 128.9 | 1 | 0.99 | Emery-Dreifuss muscular dystrophy 1 X-linked, | 310300 |
| EMG1 | 118.3 | 1 | 1 | Bowen-Conradi syndrome, | 211180 |
| EMP2 | 92.3 | 1 | 0.99 | Nephrotic syndrome, type 10 | 615861 |
| EMR2 | 142.1 | 0.97 | 0.96 | Vibratory urticaria, | 125630 |
| EMX2 | 93.9 | 1 | 0.99 | Schizencephaly, | 269160 |
| ENAM | 125.2 | 1 | 1 | Amelogenesis imperfecta, type IB, | 104500 |
| ENAM | 125.2 | 1 | 1 | Amelogenesis imperfecta, type IC, | 204650 |
| ENG | 111.5 | 0.94 | 0.91 | Telangiectasia, hereditary hemorrhagic, type 1 | 187300 |
| ENPP1 | 129.9 | 0.86 | 0.76 | Arterial calcification, generalized, of infancy, 1 | 208000 |
| ENPP1 | 129.9 | 0.86 | 0.76 | Cole disease, | 615522 |
| ENPP1 | 129.9 | 0.86 | 0.76 | Hypophosphatemic rickets, autosomal recessive, 2 | 613312 |
| ENPP1 | 129.9 | 0.86 | 0.76 | {Diabetes mellitus, non-insulin-dependent, susceptibility to}, | 125853 |
| ENPP1 | 129.9 | 0.86 | 0.76 | {Obesity, susceptibility to}, | 601665 |
| ENTPD1 | 139.2 | 1 | 0.99 | Spastic paraplegia 64 autosomal recessive, | 615683 |
| EOGT | 130.9 | 1 | 0.96 | Adams-Oliver syndrome 4 | 615297 |
| EP300 | 161.4 | 0.99 | 0.98 | Colorectal cancer, somatic, | 114500 |
| EP300 | 161.4 | 0.99 | 0.98 | Rubinstein-Taybi syndrome 2 | 613684 |
| EPAS1 | 114.8 | 0.96 | 0.94 | Erythrocytosis, familial, 4 | 611783 |
| EPB41 | 112.5 | 0.99 | 0.96 | Elliptocytosis-1, | 611804 |
| EPB42 | 133.8 | 1 | 0.99 | Spherocytosis, type 5 | 612690 |
| EPCAM | 52.9 | 0.94 | 0.75 | Colorectal cancer, hereditary nonpolyposis, type 8 | 613244 |
| EPCAM | 52.9 | 0.94 | 0.75 | Diarrhea 5 with tufting enteropathy, congenital, | 613217 |
| EPG5 | 112.9 | 0.99 | 0.96 | Vici syndrome, | 242840 |
| EPHA2 | 151.5 | 0.98 | 0.97 | Cataract 6 multiple types, | 116600 |
| EPHX1 | 108.9 | 0.98 | 0.96 | Diphenylhydantoin toxicity | 116600 |
| EPHX1 | 108.9 | 0.98 | 0.96 | Hypercholanemia, familial, | 607748 |
| EPHX1 | 108.9 | 0.98 | 0.96 | ?Fetal hydantoin syndrome | 607748 |
| EPHX1 | 108.9 | 0.98 | 0.96 | {Preeclampsia, susceptibility to}, | 189800 |
| EPM2A | 98.4 | 0.83 | 0.8 | Epilepsy, progressive myoclonic 2A (Lafora), | 254780 |
| ERBB2 | 115.1 | 0.98 | 0.97 | Adenocarcinoma of lung, somatic, | 211980 |
| ERBB2 | 115.1 | 0.98 | 0.97 | Gastric cancer, somatic, | 613659 |
| ERBB2 | 115.1 | 0.98 | 0.97 | Glioblastoma, somatic, | 137800 |
| ERBB2 | 115.1 | 0.98 | 0.97 | Ovarian cancer, somatic, | 137800 |
| ERBB3 | 114.2 | 0.99 | 0.98 | Lethal congenital contractural syndrome 2 | 607598 |
| ERBB4 | 131 | 0.99 | 0.98 | Amyotrophic lateral sclerosis 19 | 615515 |
| ERCC1 | 74.2 | 1 | 0.95 | Cerebrooculofacioskeletal syndrome 4 | 610758 |
| ERCC2 | 116.2 | 1 | 1 | Cerebrooculofacioskeletal syndrome 2 | 610756 |
| ERCC2 | 116.2 | 1 | 1 | Trichothiodystrophy 1 photosensitive, | 601675 |
| ERCC2 | 116.2 | 1 | 1 | Xeroderma pigmentosum, group D, | 278730 |
| ERCC3 | 95.9 | 1 | 0.97 | Trichothiodystrophy 2 photosensitive, | 616390 |
| ERCC3 | 95.9 | 1 | 0.97 | Xeroderma pigmentosum, group B, | 610651 |
| ERCC4 | 131.5 | 0.99 | 0.97 | Fanconi anemia, complementation group Q, | 615272 |
| ERCC4 | 131.5 | 0.99 | 0.97 | Xeroderma pigmentosum, group F, | 278760 |
| ERCC4 | 131.5 | 0.99 | 0.97 | Xeroderma pigmentosum, type F/Cockayne syndrome, | 278760 |
| ERCC4 | 131.5 | 0.99 | 0.97 | ?XFE progeroid syndrome, | 610965 |
| ERCC5 | 124.3 | 1 | 0.99 | Cerebrooculofacioskeletal syndrome 3 | 616570 |
| ERCC5 | 124.3 | 1 | 0.99 | Xeroderma pigmentosum, group G, | 278780 |
| ERCC5 | 124.3 | 1 | 0.99 | Xeroderma pigmentosum, group G/Cockayne syndrome, | 278780 |
| ERCC6 | 147.5 | 1 | 1 | Cerebrooculofacioskeletal syndrome 1 | 214150 |
| ERCC6 | 147.5 | 1 | 1 | Cockayne syndrome, type B, | 133540 |
| ERCC6 | 147.5 | 1 | 1 | De Sanctis-Cacchione syndrome, | 278800 |
| ERCC6 | 147.5 | 1 | 1 | Premature ovarian failure 11, | 616946 |
| ERCC6 | 147.5 | 1 | 1 | UV-sensitive syndrome 1 | 600630 |
| ERCC6 | 147.5 | 1 | 1 | {Lung cancer, susceptibility to}, | 211980 |
| ERCC6 | 147.5 | 1 | 1 | {Macular degeneration, age-related, susceptibility to 5}, | 613761 |
| ERCC6L2 | 118.1 | 0.99 | 0.97 | Bone marrow failure syndrome 2 | 615715 |
| ERCC8 | 78.9 | 0.98 | 0.82 | Cockayne syndrome, type A, | 216400 |
| ERCC8 | 78.9 | 0.98 | 0.82 | UV-sensitive syndrome 2 | 614621 |
| ERF | 90.7 | 1 | 0.95 | Craniosynostosis 4 | 600775 |
| ERLIN1 | 151.1 | 1 | 1 | Spastic Paraplegia 62 | 615681 |
| ERLIN2 | 132.6 | 1 | 0.96 | Spastic paraplegia 18 autosomal recessive, | 611225 |
| ESCO2 | 102.3 | 0.91 | 0.85 | Roberts syndrome, | 268300 |
| ESCO2 | 102.3 | 0.91 | 0.85 | SC phocomelia syndrome, | 269000 |
| ESPN | 36.4 | 0.65 | 0.54 | Deafness, autosomal recessive 36 | 609006 |
| ESPN | 36.4 | 0.65 | 0.54 | Deafness, neurosensory, without vestibular involvement, autosomal dominant | 609006 |
| ESR1 | 101.2 | 0.98 | 0.97 | Estrogen resistance, | 615363 |
| ESR1 | 101.2 | 0.98 | 0.97 | {Atherosclerosis, susceptibility to} | 615363 |
| ESR1 | 101.2 | 0.98 | 0.97 | {Breast cancer}, | 114480 |
| ESR1 | 101.2 | 0.98 | 0.97 | {HDL response to hormone replacement, augmented} | 114480 |
| ESR1 | 101.2 | 0.98 | 0.97 | {Migraine, susceptibility to}, | 157300 |
| ESR1 | 101.2 | 0.98 | 0.97 | {Myocardial infarction, susceptibility to}, | 608446 |
| ESRRB | 98.4 | 1 | 0.99 | Deafness, autosomal recessive 35 | 608565 |
| ETFA | 130.5 | 1 | 1 | Glutaric acidemia IIA, | 231680 |
| ETFB | 97.9 | 1 | 1 | Glutaric acidemia IIB, | 231680 |
| ETFDH | 93.8 | 0.99 | 0.98 | Glutaric acidemia IIC, | 231680 |
| ETHE1 | 65.8 | 1 | 0.87 | Ethylmalonic encephalopathy, | 602473 |
| ETV6 | 105.8 | 1 | 1 | Leukemia, acute myeloid, somatic, | 601626 |
| ETV6 | 105.8 | 1 | 1 | Thrombocytopenia 5 | 616216 |
| EVC | 95.8 | 0.9 | 0.85 | Ellis-van Creveld syndrome, | 225500 |
| EVC | 95.8 | 0.9 | 0.85 | Weyers acrodental dysostosis, | 193530 |
| EVC2 | 95.8 | 0.96 | 0.9 | Ellis-van Creveld syndrome, | 225500 |
| EVC2 | 95.8 | 0.96 | 0.9 | Weyers acrofacial dysostosis, | 193530 |
| EWSR1 | 63.7 | 0.93 | 0.86 | Ewing sarcoma, | 612219 |
| EWSR1 | 63.7 | 0.93 | 0.86 | Neuroepithelioma, | 612219 |
| EXOSC3 | 68.1 | 0.89 | 0.83 | Pontocerebellar hypoplasia, type 1B, | 614678 |
| EXOSC8 | 69.1 | 0.84 | 0.68 | Pontocerebellar hypoplasia, type 1C, | 616081 |
| EXPH5 | 178.8 | 1 | 1 | Epidermolysis bullosa, nonspecific, autosomal recessive, | 615028 |
| EXT1 | 77.9 | 0.97 | 0.94 | Chondrosarcoma, | 215300 |
| EXT1 | 77.9 | 0.97 | 0.94 | Exostoses, multiple, type 1 | 133700 |
| EXT2 | 162 | 1 | 0.98 | Exostoses, multiple, type 2 | 133701 |
| EXT2 | 162 | 1 | 0.98 | ?Seizures, scoliosis, and macrocephaly syndrome, | 616682 |
| EYA1 | 132.8 | 1 | 0.99 | Anterior segment anomalies with or without cataract, | 113650 |
| EYA1 | 132.8 | 1 | 0.99 | Branchiootic syndrome 1 | 602588 |
| EYA1 | 132.8 | 1 | 0.99 | Branchiootorenal syndrome 1 with or without cataracts, | 113650 |
| EYA1 | 132.8 | 1 | 0.99 | ?Otofaciocervical syndrome, | 166780 |
| EYA4 | 135.5 | 1 | 1 | Cardiomyopathy, dilated, 1J, | 605362 |
| EYA4 | 135.5 | 1 | 1 | Deafness, autosomal dominant 10 | 601316 |
| EYS | 127.3 | 0.98 | 0.93 | Retinitis pigmentosa 25 | 602772 |
| EZH2 | 122.6 | 0.99 | 0.97 | Weaver syndrome, | 277590 |
| F10 | 128.4 | 0.98 | 0.95 | Factor X deficiency, | 227600 |
| F11 | 136.8 | 1 | 0.99 | Factor XI deficiency, autosomal dominant, | 612416 |
| F11 | 136.8 | 1 | 0.99 | Factor XI deficiency, autosomal recessive, | 612416 |
| F12 | 98.4 | 1 | 0.99 | Angioedema, hereditary, type III, | 610618 |
| F12 | 98.4 | 1 | 0.99 | Factor XII deficiency, | 234000 |
| F13A1 | 148.1 | 1 | 0.98 | Factor XIIIA deficiency, | 613225 |
| F13A1 | 148.1 | 1 | 0.98 | {Myocardial infarction, protection against}, | 608446 |
| F13A1 | 148.1 | 1 | 0.98 | {Venous thrombosis, protection against}, | 188050 |
| F13B | 109.2 | 0.94 | 0.84 | Factor XIIIB deficiency, | 613235 |
| F2 | 101.1 | 1 | 0.97 | Dysprothrombinemia, | 613679 |
| F2 | 101.1 | 1 | 0.97 | Hypoprothrombinemia, | 613679 |
| F2 | 101.1 | 1 | 0.97 | Thrombophilia due to thrombin defect, | 188050 |
| F2 | 101.1 | 1 | 0.97 | {Pregnancy loss, recurrent, susceptibility to, 2}, | 614390 |
| F2 | 101.1 | 1 | 0.97 | {Stroke, ischemic, susceptibility to}, | 601367 |
| F5 | 162.1 | 0.98 | 0.97 | Factor V deficiency, | 227400 |
| F5 | 162.1 | 0.98 | 0.97 | Thrombophilia due to activated protein C resistance, | 188055 |
| F5 | 162.1 | 0.98 | 0.97 | {Budd-Chiari syndrome}, | 600880 |
| F5 | 162.1 | 0.98 | 0.97 | {Pregnancy loss, recurrent, susceptibility to, 1}, | 614389 |
| F5 | 162.1 | 0.98 | 0.97 | {Stroke, ischemic, susceptibility to}, | 601367 |
| F5 | 162.1 | 0.98 | 0.97 | {Thrombophilia, susceptibility to, due to factor V Leiden}, | 188055 |
| F7 | 135.4 | 1 | 1 | Factor VII deficiency, | 227500 |
| F7 | 135.4 | 1 | 1 | {Myocardial infarction, decreased susceptibility to}, | 608446 |
| F8 | 151 | 0.99 | 0.99 | Hemophilia A, | 306700 |
| F9 | 170.7 | 1 | 0.95 | Hemophilia B, | 306900 |
| F9 | 170.7 | 1 | 0.95 | Thrombophilia, X-linked, due to factor IX defect, | 300807 |
| F9 | 170.7 | 1 | 0.95 | {Deep venous thrombosis, protection against}, | 300807 |
| F9 | 170.7 | 1 | 0.95 | {Warfarin sensitivity}, | 122700 |
| FA2H | 81.6 | 0.94 | 0.79 | Spastic paraplegia 35 autosomal recessive, | 612319 |
| FADD | 112.5 | 1 | 0.98 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, | 612319 |
| FADD | 112.5 | 1 | 0.98 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, | 613759 |
| FAH | 133.7 | 1 | 0.99 | Tyrosinemia, type I, | 276700 |
| FAM105B | 125.2 | 0.91 | 0.87 | Autoinflammation,panniculitis, and dermatosis syndrome, | 617099 |
| FAM111A | 249.9 | 1 | 1 | Gracile bone dysplasia, | 602361 |
| FAM111A | 249.9 | 1 | 1 | Kenny-Caffey syndrome, type 2 | 127000 |
| FAM111B | 134.3 | 1 | 0.99 | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, | 615704 |
| FAM126A | 125 | 0.95 | 0.95 | Leukodystrophy, hypomyelinating, 5 | 610532 |
| FAM134B | 98.5 | 0.95 | 0.87 | Neuropathy, hereditary sensory and autonomic, type IIB, | 613115 |
| FAM161A | 97.9 | 0.98 | 0.92 | Retinitis pigmentosa 28 | 606068 |
| FAM20A | 96.9 | 0.99 | 0.89 | Amelogenesis imperfecta, type IG (enamel-renal syndrome), | 204690 |
| FAM20C | 82.4 | 1 | 0.93 | Raine syndrome, | 259775 |
| FAM58A | 88.7 | 0.8 | 0.78 | STAR syndrome, | 300707 |
| FAM83H | 70.9 | 0.96 | 0.87 | Amelogenesis imperfecta, type III, | 130900 |
| FAN1 | 131.5 | 1 | 1 | Interstitial nephritis, karyomegalic, | 614817 |
| FANCA | 103.4 | 1 | 0.98 | Fanconi anemia, complementation group A, | 227650 |
| FANCB | 87.2 | 0.99 | 0.93 | Fanconi anemia, complementation group B, | 300514 |
| FANCC | 102.9 | 1 | 1 | Fanconi anemia, complementation group C, | 227645 |
| FANCD2 | 116.8 | 0.97 | 0.94 | Fanconi anemia, complementation group D2, | 227646 |
| FANCE | 99.6 | 0.84 | 0.84 | Fanconi anemia, complementation group E, | 600901 |
| FANCF | 113 | 1 | 1 | Fanconi anemia, complementation group F, | 603467 |
| FANCG | 117.3 | 1 | 0.99 | Fanconi anemia, complementation group G, | 614082 |
| FANCI | 154.7 | 0.99 | 0.96 | Fanconi anemia, complementation group I, | 609053 |
| FANCL | 67.2 | 1 | 0.96 | Fanconi anemia, complementation group L, | 614083 |
| FAR1 | 78.2 | 0.94 | 0.9 | Peroxisomal fatty acyl-CoA reductase 1 disorder, | 616154 |
| FARS2 | 183.5 | 1 | 1 | Combined oxidative phosphorylation deficiency 14 | 614946 |
| FARS2 | 183.5 | 1 | 1 | ?Spastic paraplegia 77 autosomal recessive, | 617046 |
| FAS | 236 | 1 | 0.98 | Autoimmune lymphoproliferative syndrome, type IA, | 601859 |
| FAS | 236 | 1 | 0.98 | Squamous cell carcinoma, burn scar-related, somatic | 601859 |
| FAS | 236 | 1 | 0.98 | {Autoimmune lymphoproliferative syndrome}, | 601859 |
| FASLG | 78.1 | 1 | 0.96 | Autoimmune lymphoproliferative syndrome, type IB, | 601859 |
| FASLG | 78.1 | 1 | 0.96 | {Lung cancer, susceptibility to}, | 211980 |
| FAT4 | 186.7 | 1 | 0.99 | Hennekam lymphangiectasia-lymphedema syndrome 2 | 616006 |
| FAT4 | 186.7 | 1 | 0.99 | Van Maldergem syndrome 2 | 615546 |
| FBLN5 | 102.3 | 0.91 | 0.91 | Cutis laxa, autosomal dominant 2 | 614434 |
| FBLN5 | 102.3 | 0.91 | 0.91 | Cutis laxa, autosomal recessive, type IA, | 219100 |
| FBLN5 | 102.3 | 0.91 | 0.91 | Macular degeneration, age-related, 3 | 608895 |
| FBLN5 | 102.3 | 0.91 | 0.91 | Neuropathy, hereditary, with or without age-related macular degeneration, | 608895 |
| FBN1 | 141.2 | 1 | 0.98 | Acromicric dysplasia, | 102370 |
| FBN1 | 141.2 | 1 | 0.98 | Aortic aneurysm, ascending, and dissection | 102370 |
| FBN1 | 141.2 | 1 | 0.98 | Ectopia lentis, familial, | 129600 |
| FBN1 | 141.2 | 1 | 0.98 | Geleophysic dysplasia 2 | 614185 |
| FBN1 | 141.2 | 1 | 0.98 | Marfan lipodystrophy syndrome, | 616914 |
| FBN1 | 141.2 | 1 | 0.98 | Marfan syndrome, | 154700 |
| FBN1 | 141.2 | 1 | 0.98 | MASS syndrome, | 604308 |
| FBN1 | 141.2 | 1 | 0.98 | Stiff skin syndrome, | 184900 |
| FBN1 | 141.2 | 1 | 0.98 | Weill-Marchesani syndrome 2 dominant, | 608328 |
| FBN2 | 145.5 | 1 | 0.99 | Contractural arachnodactyly, congenital, | 121050 |
| FBN2 | 145.5 | 1 | 0.99 | Macular degeneration, early-onset, | 616118 |
| FBP1 | 100.7 | 1 | 1 | Fructose-1,6-bisphosphatase deficiency, | 229700 |
| FBXL4 | 180.4 | 1 | 1 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), | 615471 |
| FBXO38 | 142.4 | 0.99 | 0.98 | Neuronopathy, distal hereditary motor, type IID, | 615575 |
| FBXO7 | 192.9 | 1 | 0.98 | Parkinson disease 15 autosomal recessive, | 260300 |
| FCGR3A | 156.8 | 1 | 0.98 | Immunodeficiency 20 | 615707 |
| FCGR3B | 163 | 0.99 | 0.97 | Neutropenia, alloimmune neonatal | 615707 |
| FCN3 | 113.1 | 1 | 0.98 | Immunodeficiency due to ficolin 3 deficiency, | 613860 |
| FDPS | 60.9 | 0.96 | 0.94 | Porokeratosis 9 multiple types, | 616631 |
| FECH | 114.9 | 1 | 1 | Protoporphyria, erythropoietic, autosomal recessive, | 177000 |
| FERMT1 | 87.6 | 0.97 | 0.94 | Kindler syndrome, | 173650 |
| FERMT3 | 107.2 | 1 | 1 | Leukocyte adhesion deficiency,type III, | 612840 |
| FEZF1 | 125.1 | 1 | 0.95 | Hypogonadotropic hypogonadism 22 with or without anosmia, | 616030 |
| FGA | 142.6 | 0.98 | 0.94 | Afibrinogenemia, congenital, | 202400 |
| FGA | 142.6 | 0.98 | 0.94 | Amyloidosis, familial visceral, | 105200 |
| FGA | 142.6 | 0.98 | 0.94 | Dysfibrinogenemia, congenital, | 616004 |
| FGA | 142.6 | 0.98 | 0.94 | Hypodysfibrinogenemia, congenital, | 616004 |
| FGB | 168 | 1 | 0.98 | Afibrinogenemia, congenital, | 202400 |
| FGB | 168 | 1 | 0.98 | Dysfibrinogenemia, congenital, | 616004 |
| FGB | 168 | 1 | 0.98 | Hypofibrinogenemia, congenital, | 202400 |
| FGD1 | 102.8 | 0.97 | 0.92 | Aarskog-Scott syndrome, | 305400 |
| FGD1 | 102.8 | 0.97 | 0.92 | Mental retardation, X-linked syndromic 16 | 305400 |
| FGD4 | 92.4 | 0.97 | 0.92 | Charcot-Marie-Tooth disease, type 4H, | 609311 |
| FGF10 | 122.6 | 1 | 1 | Aplasia of lacrimal and salivary glands, | 180920 |
| FGF10 | 122.6 | 1 | 1 | LADD syndrome, | 149730 |
| FGF14 | 168.9 | 1 | 0.98 | Spinocerebellar ataxia 27 | 609307 |
| FGF16 | 144.6 | 1 | 0.99 | Metacarpal 4-maig fusion, | 309630 |
| FGF17 | 129.7 | 1 | 1 | Hypogonadotropic hypogonadism 20 with or without anosmia, | 615270 |
| FGF23 | 95.3 | 0.98 | 0.95 | Hypophosphatemic rickets, autosomal dominant, | 193100 |
| FGF23 | 95.3 | 0.98 | 0.95 | Osteomalacia, tumor-induced | 193100 |
| FGF23 | 95.3 | 0.98 | 0.95 | Tumoral calcinosis, hyperphosphatemic, familial, | 211900 |
| FGF3 | 68.5 | 0.97 | 0.92 | Deafness, congenital with inner ear agenesis, microtia, and microdontia, | 610706 |
| FGF5 | 87.2 | 1 | 0.99 | Trichomegaly, | 190330 |
| FGF8 | 121.5 | 0.82 | 0.75 | Hypogonadotropic hypogonadism 6 with or without anosmia, | 612702 |
| FGFR1 | 127.6 | 0.97 | 0.96 | Encephalocraniocutaneous lipomatosis, | 613001 |
| FGFR1 | 127.6 | 0.97 | 0.96 | Hartsfield syndrome, | 615465 |
| FGFR1 | 127.6 | 0.97 | 0.96 | Hypogonadotropic hypogonadism 2 with or without anosmia, | 147950 |
| FGFR1 | 127.6 | 0.97 | 0.96 | Jackson-Weiss syndrome, | 123150 |
| FGFR1 | 127.6 | 0.97 | 0.96 | Osteoglophonic dysplasia, | 166250 |
| FGFR1 | 127.6 | 0.97 | 0.96 | Pfeiffer syndrome, | 101600 |
| FGFR1 | 127.6 | 0.97 | 0.96 | Trigonocephaly 1 | 190440 |
| FGFR2 | 121.8 | 0.96 | 0.95 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, | 207410 |
| FGFR2 | 121.8 | 0.96 | 0.95 | Apert syndrome, | 101200 |
| FGFR2 | 121.8 | 0.96 | 0.95 | Beare-Stevenson cutis gyrata syndrome, | 123790 |
| FGFR2 | 121.8 | 0.96 | 0.95 | Bent bone dysplasia syndrome, | 614592 |
| FGFR2 | 121.8 | 0.96 | 0.95 | Craniofacial-skeletal-dermatologic dysplasia, | 101600 |
| FGFR2 | 121.8 | 0.96 | 0.95 | Craniosynostosis, nonspecific | 101600 |
| FGFR2 | 121.8 | 0.96 | 0.95 | Crouzon syndrome, | 123500 |
| FGFR2 | 121.8 | 0.96 | 0.95 | Gastric cancer, somatic, | 613659 |
| FGFR2 | 121.8 | 0.96 | 0.95 | Jackson-Weiss syndrome, | 123150 |
| FGFR2 | 121.8 | 0.96 | 0.95 | LADD syndrome, | 149730 |
| FGFR2 | 121.8 | 0.96 | 0.95 | Pfeiffer syndrome, | 101600 |
| FGFR2 | 121.8 | 0.96 | 0.95 | Saethre-Chotzen syndrome, | 101400 |
| FGFR2 | 121.8 | 0.96 | 0.95 | Scaphocephaly and Axenfeld-Rieger anomaly | 101400 |
| FGFR2 | 121.8 | 0.96 | 0.95 | Scaphocephaly, maxillary retrusion, and mental retardation, | 609579 |
| FGFR3 | 98.9 | 1 | 0.99 | Achondroplasia, | 100800 |
| FGFR3 | 98.9 | 1 | 0.99 | Bladder cancer, somatic, | 109800 |
| FGFR3 | 98.9 | 1 | 0.99 | CATSHL syndrome, | 610474 |
| FGFR3 | 98.9 | 1 | 0.99 | Cervical cancer, somatic, | 603956 |
| FGFR3 | 98.9 | 1 | 0.99 | Colorectal cancer, somatic, | 114500 |
| FGFR3 | 98.9 | 1 | 0.99 | Crouzon syndrome with acanthosis nigricans, | 612247 |
| FGFR3 | 98.9 | 1 | 0.99 | Hypochondroplasia, | 146000 |
| FGFR3 | 98.9 | 1 | 0.99 | LADD syndrome, | 149730 |
| FGFR3 | 98.9 | 1 | 0.99 | Muenke syndrome, | 602849 |
| FGFR3 | 98.9 | 1 | 0.99 | Nevus, epidermal, somatic, | 162900 |
| FGFR3 | 98.9 | 1 | 0.99 | SADDAN, | 616482 |
| FGFR3 | 98.9 | 1 | 0.99 | Spermatocytic seminoma, somatic, | 273300 |
| FGFR3 | 98.9 | 1 | 0.99 | Thanatophoric dysplasia, type I, | 187600 |
| FGFR3 | 98.9 | 1 | 0.99 | Thanatophoric dysplasia, type II, | 187601 |
| FGG | 131.4 | 0.98 | 0.97 | Afibrinogenemia, congenital, | 202400 |
| FGG | 131.4 | 0.98 | 0.97 | Dysfibrinogenemia, congenital, | 616004 |
| FGG | 131.4 | 0.98 | 0.97 | Hypodysfibrinogenemia, | 616004 |
| FGG | 131.4 | 0.98 | 0.97 | Hypofibrinogenemia, congenital, | 202400 |
| FH | 139.2 | 0.89 | 0.86 | Fumarase deficiency, | 606812 |
| FH | 139.2 | 0.89 | 0.86 | Leiomyomatosis and renal cell cancer, | 150800 |
| FHL1 | 98.8 | 0.98 | 0.93 | Emery-Dreifuss muscular dystrophy 6 X-linked, | 300696 |
| FHL1 | 98.8 | 0.98 | 0.93 | Hemophagocytic lymphohistiocytosis, familial, 1 | 300696 |
| FHL1 | 98.8 | 0.98 | 0.93 | Myopathy, X-linked, with postural muscle atrophy, | 300696 |
| FHL1 | 98.8 | 0.98 | 0.93 | Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, | 300717 |
| FHL1 | 98.8 | 0.98 | 0.93 | Reducing body myopathy, X-linked 1b, with late childhood or adult onset, | 300718 |
| FHL1 | 98.8 | 0.98 | 0.93 | Scapuloperoneal myopathy, X-linked dominant, | 300695 |
| FIG4 | 147.4 | 1 | 0.96 | Amyotrophic lateral sclerosis 11 | 612577 |
| FIG4 | 147.4 | 1 | 0.96 | Charcot-Marie-Tooth disease, type 4J, | 611228 |
| FIG4 | 147.4 | 1 | 0.96 | Yunis-Varon syndrome, | 216340 |
| FIG4 | 147.4 | 1 | 0.96 | ?Polymicrogyria, bilateral temporooccipital, | 612691 |
| FIGLA | 91.8 | 0.9 | 0.85 | Premature ovarian failure 6 | 612310 |
| FKBP10 | 137.9 | 0.97 | 0.93 | Bruck syndrome 1 | 259450 |
| FKBP10 | 137.9 | 0.97 | 0.93 | Osteogenesis imperfecta, type XI, | 610968 |
| FKBP14 | 75.6 | 0.99 | 0.93 | Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, | 614557 |
| FKRP | 74.3 | 1 | 0.99 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 | 613153 |
| FKRP | 74.3 | 1 | 0.99 | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 | 613153 |
| FKRP | 74.3 | 1 | 0.99 | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 | 606612 |
| FKRP | 74.3 | 1 | 0.99 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | 607155 |
| FKTN | 128.4 | 0.99 | 0.93 | Cardiomyopathy, dilated, 1X, | 611615 |
| FKTN | 128.4 | 0.99 | 0.93 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 253800 |
| FKTN | 128.4 | 0.99 | 0.93 | Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 | 613152 |
| FKTN | 128.4 | 0.99 | 0.93 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | 611588 |
| FLAD1 | 141.7 | 1 | 1 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, | 255100 |
| FLCN | 138.8 | 1 | 0.99 | Birt-Hogg-Dube syndrome, | 135150 |
| FLCN | 138.8 | 1 | 0.99 | Colorectal cancer, somatic, | 114500 |
| FLCN | 138.8 | 1 | 0.99 | Pneumothorax, primary spontaneous, | 173600 |
| FLCN | 138.8 | 1 | 0.99 | Renal carcinoma, chromophobe, somatic, | 144700 |
| FLG | 170.8 | 1 | 0.99 | Ichthyosis vulgaris, | 146700 |
| FLG | 170.8 | 1 | 0.99 | {Dermatitis, atopic, susceptibility to, 2}, | 605803 |
| FLNA | 163.8 | 1 | 1 | Cardiac valvular dysplasia, X-linked, | 314400 |
| FLNA | 163.8 | 1 | 1 | Congenital short bowel syndrome, | 300048 |
| FLNA | 163.8 | 1 | 1 | FG syndrome 2 | 300321 |
| FLNA | 163.8 | 1 | 1 | Frontometaphyseal dysplasia, | 305620 |
| FLNA | 163.8 | 1 | 1 | Heterotopia, periventricular, | 300049 |
| FLNA | 163.8 | 1 | 1 | Heterotopia, periventricular, ED variant, | 300537 |
| FLNA | 163.8 | 1 | 1 | Intestinal pseudoobstruction, neuronal, | 300048 |
| FLNA | 163.8 | 1 | 1 | Melnick-Needles syndrome, | 309350 |
| FLNA | 163.8 | 1 | 1 | Otopalatodigital syndrome, type I, | 311300 |
| FLNA | 163.8 | 1 | 1 | Otopalatodigital syndrome, type II, | 304120 |
| FLNA | 163.8 | 1 | 1 | Terminal osseous dysplasia, | 300244 |
| FLNB | 129.5 | 0.99 | 0.99 | Atelosteogenesis, type I, | 108720 |
| FLNB | 129.5 | 0.99 | 0.99 | Atelosteogenesis, type III, | 108721 |
| FLNB | 129.5 | 0.99 | 0.99 | Boomerang dysplasia, | 112310 |
| FLNB | 129.5 | 0.99 | 0.99 | Larsen syndrome, | 150250 |
| FLNB | 129.5 | 0.99 | 0.99 | Spondylocarpotarsal synostosis syndrome, | 272460 |
| FLNC | 135.4 | 1 | 0.99 | Cardiomyopathy, familial hypertrophic, 26 | 272460 |
| FLNC | 135.4 | 1 | 0.99 | Cardiomyopathy, familial restrictive 5 | 617047 |
| FLNC | 135.4 | 1 | 0.99 | Myopathy, distal, 4 | 614065 |
| FLNC | 135.4 | 1 | 0.99 | Myopathy, myofibrillar, 5 | 609524 |
| FLRT3 | 188.9 | 1 | 1 | Hypogonadotropic hypogonadism 21 with anosmia, | 615271 |
| FLT3 | 121 | 0.98 | 0.97 | Leukemia, acute lymphoblastic, somatic, | 613065 |
| FLT3 | 121 | 0.98 | 0.97 | Leukemia, acute myeloid, reduced survival in, somatic, | 601626 |
| FLT3 | 121 | 0.98 | 0.97 | Leukemia, acute myeloid, somatic, | 601626 |
| FLT4 | 143.6 | 0.99 | 0.98 | Hemangioma, capillary infantile, somatic, | 602089 |
| FLT4 | 143.6 | 0.99 | 0.98 | Lymphedema, hereditary, IA, | 153100 |
| FLVCR1 | 126.5 | 0.99 | 0.97 | Ataxia, posterior column, with retinitis pigmentosa, | 609033 |
| FLVCR2 | 152.6 | 1 | 1 | Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, | 225790 |
| FMN2 | 76.9 | 0.8 | 0.72 | Mental retardation, autosomal recessive 47 | 616193 |
| FMO3 | 138.1 | 0.99 | 0.97 | Trimethylaminuria, | 602079 |
| FMR1 | 94.5 | 0.96 | 0.87 | Fragile X syndrome, | 300624 |
| FMR1 | 94.5 | 0.96 | 0.87 | Fragile X tremor/ataxia syndrome, | 300623 |
| FMR1 | 94.5 | 0.96 | 0.87 | Premature ovarian failure 1 | 311360 |
| FN1 | 126.8 | 1 | 0.98 | Glomerulopathy with fibronectin deposits 2 | 601894 |
| FN1 | 126.8 | 1 | 0.98 | Plasma fibronectin deficiency, | 614101 |
| FOLR1 | 107.1 | 1 | 1 | Neurodegeneration due to cerebral folate transport deficiency, | 613068 |
| FOXC1 | 32.1 | 0.97 | 0.83 | Axenfeld-Rieger syndrome, type 3 | 602482 |
| FOXC1 | 32.1 | 0.97 | 0.83 | Iridogoniodysgenesis, type 1 | 601631 |
| FOXC1 | 32.1 | 0.97 | 0.83 | Iris hypoplasia and glaucoma, | 601631 |
| FOXC1 | 32.1 | 0.97 | 0.83 | Rieger or Axenfeld anomalies, | 602482 |
| FOXC2 | 42.2 | 0.99 | 0.77 | Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, | 153400 |
| FOXC2 | 42.2 | 0.99 | 0.77 | Lymphedema-distichiasis syndrome, | 153400 |
| FOXE1 | 24.2 | 0.7 | 0.54 | Bamforth-Lazarus syndrome, | 241850 |
| FOXE1 | 24.2 | 0.7 | 0.54 | {Thyroid cancer, nonmedullary, 4}, | 616534 |
| FOXE3 | 16.1 | 0.57 | 0.38 | Anterior segment mesenchymal dysgenesis, | 107250 |
| FOXE3 | 16.1 | 0.57 | 0.38 | Aphakia, congenital primary, | 610256 |
| FOXF1 | 61.8 | 0.96 | 0.87 | Alveolar capillary dysplasia with misalignment of pulmonary veins, | 265380 |
| FOXG1 | 93.6 | 0.79 | 0.76 | Rett syndrome, congenital variant, | 613454 |
| FOXI1 | 115.2 | 1 | 1 | Enlarged vestibular aqueduct, | 600791 |
| FOXL2 | 25.3 | 0.78 | 0.55 | Blepharophimosis, epicanthus inversus, and ptosis, type 1 | 110100 |
| FOXL2 | 25.3 | 0.78 | 0.55 | Blepharophimosis, epicanthus inversus, and ptosis, type 2 | 110100 |
| FOXL2 | 25.3 | 0.78 | 0.55 | Premature ovarian failure 3 | 608996 |
| FOXN1 | 88.2 | 0.99 | 0.96 | T-cell immunodeficiency, congenital alopecia, and nail dystrophy, | 601705 |
| FOXO1 | 121.1 | 0.94 | 0.91 | Rhabdomyosarcoma,alveolar, | 268220 |
| FOXP1 | 116.7 | 1 | 0.99 | Mental retardation with language impairment and with or without autistic features, | 613670 |
| FOXP2 | 134.9 | 0.95 | 0.94 | Speech-language disorder-1, | 602081 |
| FOXP3 | 130 | 1 | 0.9 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, | 304790 |
| FOXP3 | 130 | 1 | 0.9 | {Diabetes mellitus, type I, susceptibility to}, | 222100 |
| FOXRED1 | 122.6 | 1 | 0.99 | Leigh syndrome due to mitochondrial complex I deficiency, | 256000 |
| FOXRED1 | 122.6 | 1 | 0.99 | Mitochondrial complex I deficiency, | 252010 |
| FRAS1 | 124.7 | 0.99 | 0.99 | Fraser syndrome, | 219000 |
| FREM1 | 124 | 0.99 | 0.97 | Bifid nose with or without anorectal and renal anomalies, | 608980 |
| FREM1 | 124 | 0.99 | 0.97 | Manitoba oculotrichoanal syndrome, | 248450 |
| FREM1 | 124 | 0.99 | 0.97 | Trigonocephaly 2 | 614485 |
| FREM2 | 158.3 | 0.99 | 0.99 | Fraser syndrome, | 219000 |
| FRMD7 | 151.9 | 1 | 1 | Nystagmus 1 congenital, X-linked, | 310700 |
| FRMD7 | 151.9 | 1 | 1 | Nystagmus, infantile periodic alternating, X-linked, | 310700 |
| FRRS1L | 106.3 | 0.62 | 0.62 | Epileptic encephalopathy, early infantile, 37 | 616981 |
| FSCN2 | 130.9 | 1 | 1 | Retinitis pigmentosa 30 | 607921 |
| FSHB | 118 | 1 | 1 | Hypogonadotropic hypogonadism 24 without anosmia, | 229070 |
| FSHR | 108 | 0.99 | 0.97 | Ovarian dysgenesis 1 | 233300 |
| FSHR | 108 | 0.99 | 0.97 | Ovarian hyperstimulation syndrome, | 608115 |
| FSHR | 108 | 0.99 | 0.97 | Ovarian response to FSH stimulation, | 276400 |
| FTCD | 75.8 | 0.92 | 0.85 | Glutamate formiminotransferase deficiency, | 229100 |
| FTL | 101.3 | 1 | 0.97 | Hyperferritinemia-cataract syndrome, | 600886 |
| FTL | 101.3 | 1 | 0.97 | L-ferritin deficiency, dominant and recessive, | 615604 |
| FTL | 101.3 | 1 | 0.97 | Neurodegeneration with brain iron accumulation 3 | 606159 |
| FTO | 116.7 | 0.99 | 0.97 | Growth retardation, developmental delay, facial dysmorphism, | 612938 |
| FTO | 116.7 | 0.99 | 0.97 | {Obesity, susceptibility to, BMIQ14}, | 612460 |
| FTSJ1 | 149.3 | 1 | 0.98 | Mental retardation, X-linked 9 | 309549 |
| FUCA1 | 121.2 | 1 | 0.99 | Fucosidosis, | 230000 |
| FUS | 117.2 | 1 | 0.93 | Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia, | 608030 |
| FUS | 117.2 | 1 | 0.93 | Tremor, hereditary essential, 4 | 614782 |
| FUT6 | 151.4 | 1 | 1 | Fucosyltransferase 6 deficiency, | 613852 |
| FUZ | 94.7 | 1 | 1 | Neural tube defects, | 182940 |
| FXN | 59.8 | 0.75 | 0.71 | Friedreich ataxia with retained reflexes, | 229300 |
| FXN | 59.8 | 0.75 | 0.71 | Friedreich ataxia, | 229300 |
| FXYD2 | 80.6 | 1 | 1 | Hypomagnesemia 2 renal, | 154020 |
| FYCO1 | 106.7 | 1 | 1 | Cataract 18 autosomal recessive, | 610019 |
| FZD4 | 177.8 | 1 | 0.98 | Exudative vitreoretinopathy 1 | 133780 |
| FZD4 | 177.8 | 1 | 0.98 | Retinopathy of prematurity, | 133780 |
| FZD6 | 179.4 | 1 | 1 | Nail disorder, nonsyndromic congenital, 10 (claw-shaped nails), | 614157 |
| G6PC | 166.9 | 1 | 1 | Glycogen storage disease Ia, | 232200 |
| G6PC3 | 115.4 | 1 | 1 | Dursun syndrome, | 612541 |
| G6PC3 | 115.4 | 1 | 1 | Neutropenia, severe congenital 4 autosomal recessive, | 612541 |
| G6PD | 135 | 1 | 0.99 | Favism, | 134700 |
| G6PD | 135 | 1 | 0.99 | Hemolytic anemia due to G6PD deficiency, | 300908 |
| G6PD | 135 | 1 | 0.99 | {Resistance to malaria due to G6PD deficiency}, | 611162 |
| GAA | 106.3 | 1 | 0.99 | Glycogen storage disease II, | 232300 |
| GABRA1 | 160.5 | 1 | 1 | Epileptic encephalopathy, early infantile, 19 | 615744 |
| GABRA1 | 160.5 | 1 | 1 | {Epilepsy, childhood absence, susceptibility to, 4}, | 611136 |
| GABRA1 | 160.5 | 1 | 1 | {Epilepsy, juvenile myoclonic, susceptibility to, 5}, | 611136 |
| GABRG2 | 134.8 | 0.92 | 0.92 | Epilepsy, generalized, with febrile seizures plus, type 3 | 611277 |
| GABRG2 | 134.8 | 0.92 | 0.92 | Febrile seizures, familial, 8 | 611277 |
| GABRG2 | 134.8 | 0.92 | 0.92 | {Epilepsy, childhood absence, susceptibility to, 2}, | 607681 |
| GALC | 94.2 | 0.98 | 0.91 | Krabbe disease, | 245200 |
| GALE | 125.6 | 1 | 1 | Galactose epimerase deficiency, | 230350 |
| GALK1 | 95.7 | 0.98 | 0.94 | Galactokinase deficiency with cataracts, | 230200 |
| GALNS | 84.5 | 1 | 0.93 | Mucopolysaccharidosis IVA, | 253000 |
| GALNT3 | 118.2 | 0.97 | 0.91 | Tumoral calcinosis, hyperphosphatemic, familial, | 211900 |
| GALT | 137.1 | 1 | 1 | Galactosemia, | 230400 |
| GAMT | 91.2 | 0.98 | 0.88 | Cerebral creatine deficiency syndrome 2 | 612736 |
| GAN | 177.1 | 1 | 0.97 | Giant axonal neuropathy-1, | 256850 |
| GANAB | 103.5 | 0.99 | 0.97 | Polycystic kidney disease 3 | 600666 |
| GARS | 120.6 | 0.99 | 0.96 | Charcot-Marie-Tooth disease, type 2D, | 601472 |
| GARS | 120.6 | 0.99 | 0.96 | Neuropathy, distal hereditary motor, type VA, | 600794 |
| GAS8 | 137.3 | 1 | 0.99 | Ciliary dyskinesia, primary, 33 | 616726 |
| GATA1 | 92.2 | 1 | 0.99 | Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, | 300835 |
| GATA1 | 92.2 | 1 | 0.99 | Leukemia, megakaryoblastic, with or without Down syndrome, somatic, | 190685 |
| GATA1 | 92.2 | 1 | 0.99 | Thrombocytopenia with beta-thalassemia, X-linked, | 314050 |
| GATA1 | 92.2 | 1 | 0.99 | Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, | 300367 |
| GATA2 | 106.1 | 1 | 0.98 | Emberger syndrome, | 614038 |
| GATA2 | 106.1 | 1 | 0.98 | Immunodeficiency 21 | 614172 |
| GATA2 | 106.1 | 1 | 0.98 | {Leukemia, acute myeloid, susceptibility to}, | 601626 |
| GATA2 | 106.1 | 1 | 0.98 | {Myelodysplastic syndrome, susceptibility to}, | 614286 |
| GATA3 | 145.1 | 1 | 0.99 | Hypoparathyroidism, sensorineural deafness, and renal dysplasia, | 146255 |
| GATA4 | 65.1 | 0.57 | 0.53 | Atrial septal defect 2 | 607941 |
| GATA4 | 65.1 | 0.57 | 0.53 | Atrioventricular septal defect 4 | 614430 |
| GATA4 | 65.1 | 0.57 | 0.53 | Tetralogy of Fallot, | 187500 |
| GATA4 | 65.1 | 0.57 | 0.53 | Ventricular septal defect 1 | 614429 |
| GATA4 | 65.1 | 0.57 | 0.53 | ?Testicular anomalies with or without congenital heart disease, | 615542 |
| GATA6 | 47.2 | 0.77 | 0.63 | Atrial septal defect 9 | 614475 |
| GATA6 | 47.2 | 0.77 | 0.63 | Atrioventricular septal defect 5 | 614474 |
| GATA6 | 47.2 | 0.77 | 0.63 | Pancreatic agenesis and congenital heart defects, | 600001 |
| GATA6 | 47.2 | 0.77 | 0.63 | Persistent truncus arteriosus, | 217095 |
| GATA6 | 47.2 | 0.77 | 0.63 | Tetralogy of Fallot, | 187500 |
| GATAD2B | 110.1 | 1 | 0.99 | Mental retardation, autosomal dominant 18 | 615074 |
| GATM | 140.2 | 1 | 1 | Cerebral creatine deficiency syndrome 3 | 612718 |
| GBA | 193.2 | 1 | 1 | Gaucher disease, perinatal lethal, | 608013 |
| GBA | 193.2 | 1 | 1 | Gaucher disease, type I, | 230800 |
| GBA | 193.2 | 1 | 1 | Gaucher disease, type II, | 230900 |
| GBA | 193.2 | 1 | 1 | Gaucher disease, type III, | 231000 |
| GBA | 193.2 | 1 | 1 | Gaucher disease, type IIIC, | 231005 |
| GBA | 193.2 | 1 | 1 | {Lewy body dementia, susceptibility to}, | 127750 |
| GBA | 193.2 | 1 | 1 | {Parkinson disease, late-onset, susceptibility to}, | 168600 |
| GBA2 | 145.8 | 0.99 | 0.98 | Spastic paraplegia 46 autosomal recessive, | 614409 |
| GBE1 | 147 | 0.99 | 0.93 | Glycogen storage disease IV, | 232500 |
| GBE1 | 147 | 0.99 | 0.93 | Polyglucosan body disease, adult form, | 263570 |
| GCDH | 118.5 | 0.93 | 0.91 | Glutaricaciduria, type I, | 231670 |
| GCH1 | 66.9 | 0.96 | 0.79 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, | 128230 |
| GCH1 | 66.9 | 0.96 | 0.79 | Hyperphenylalaninemia, BH4-deficient, B, | 233910 |
| GCK | 126 | 1 | 1 | Diabetes mellitus, noninsulin-dependent, late onset, | 125853 |
| GCK | 126 | 1 | 1 | Diabetes mellitus, permanent neonatal, | 606176 |
| GCK | 126 | 1 | 1 | Hyperinsulinemic hypoglycemia, familial, 3 | 602485 |
| GCK | 126 | 1 | 1 | MODY, type II, | 125851 |
| GCLC | 121.1 | 0.99 | 0.98 | Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, | 230450 |
| GCLC | 121.1 | 0.99 | 0.98 | {Myocardial infarction, susceptibility to}, | 608446 |
| GCM2 | 127 | 1 | 1 | Hypoparathyroidism, familial isolated, | 146200 |
| GCNT2 | 157.9 | 1 | 1 | Adult i phenotype without cataract, | 110800 |
| GCNT2 | 157.9 | 1 | 1 | Cataract 13 with adult i phenotype, | 116700 |
| GCNT2 | 157.9 | 1 | 1 | [Blood group, Ii], | 110800 |
| GCSH | 29 | 0.6 | 0.37 | Glycine encephalopathy, | 605899 |
| GDAP1 | 153.4 | 1 | 0.99 | Charcot-Marie-Tooth disease, axonal, type 2K, | 607831 |
| GDAP1 | 153.4 | 1 | 0.99 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, | 607706 |
| GDAP1 | 153.4 | 1 | 0.99 | Charcot-Marie-Tooth disease, recessive intermediate, A, | 608340 |
| GDAP1 | 153.4 | 1 | 0.99 | Charcot-Marie-Tooth disease, type 4A, | 214400 |
| GDF1 | 27.7 | 0.69 | 0.62 | Double-outlet right ventricle, | 217095 |
| GDF1 | 27.7 | 0.69 | 0.62 | Right atrial isomerism, | 208530 |
| GDF1 | 27.7 | 0.69 | 0.62 | Tetralogy of Fallot, | 187500 |
| GDF1 | 27.7 | 0.69 | 0.62 | Transposition of great arteries, dextro-looped 3 | 613854 |
| GDF2 | 128.5 | 1 | 1 | Telangiectasia, hereditary hemorrhagic, type 5 | 615506 |
| GDF3 | 122.6 | 1 | 1 | Klippel-Feil syndrome 3 autosomal dominant, | 613702 |
| GDF3 | 122.6 | 1 | 1 | Microphthalmia with coloboma 6 | 613703 |
| GDF3 | 122.6 | 1 | 1 | Microphthalmia, isolated 7 | 613704 |
| GDF5 | 122.9 | 1 | 1 | Brachydactyly, type A1, C, | 615072 |
| GDF5 | 122.9 | 1 | 1 | Brachydactyly, type A2, | 112600 |
| GDF5 | 122.9 | 1 | 1 | Brachydactyly, type C, | 113100 |
| GDF5 | 122.9 | 1 | 1 | Chondrodysplasia, Grebe type, | 200700 |
| GDF5 | 122.9 | 1 | 1 | Du Pan syndrome, | 228900 |
| GDF5 | 122.9 | 1 | 1 | Multiple synostoses syndrome 2 | 610017 |
| GDF5 | 122.9 | 1 | 1 | Symphalangism, proximal, 1B, | 615298 |
| GDF5 | 122.9 | 1 | 1 | ?Acromesomelic dysplasia, Hunter-Thompson type, | 201250 |
| GDF5 | 122.9 | 1 | 1 | {Osteoarthritis-5}, | 612400 |
| GDF6 | 70.3 | 0.93 | 0.8 | Klippel-Feil syndrome 1 autosomal dominant, | 118100 |
| GDF6 | 70.3 | 0.93 | 0.8 | Leber congenital amaurosis 17 | 615360 |
| GDF6 | 70.3 | 0.93 | 0.8 | Microphthalmia with coloboma 6 digenic, | 613703 |
| GDF6 | 70.3 | 0.93 | 0.8 | Microphthalmia, isolated 4 | 613094 |
| GDI1 | 194 | 1 | 1 | Mental retardation, X-linked 41 | 300849 |
| GDNF | 155.8 | 1 | 0.95 | Central hypoventilation syndrome, | 209880 |
| GDNF | 155.8 | 1 | 0.95 | {Hirschsprung disease, susceptibility to, 3}, | 613711 |
| GDNF | 155.8 | 1 | 0.95 | {Pheochromocytoma, modifier of}, | 171300 |
| GFAP | 87.9 | 1 | 1 | Alexander disease, | 203450 |
| GFER | 75.1 | 0.99 | 0.86 | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, | 203450 |
| GFER | 75.1 | 0.99 | 0.86 | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, | 613076 |
| GFI1 | 81.6 | 1 | 0.92 | Neutropenia, nonimmune chronic idiopathic, of adults, | 607847 |
| GFI1 | 81.6 | 1 | 0.92 | Neutropenia, severe congenital 2 autosomal dominant, | 613107 |
| GFI1B | 132.8 | 1 | 1 | Bleeding disorder, platelet-type, 17 | 187900 |
| GFM1 | 85.8 | 0.98 | 0.95 | Combined oxidative phosphorylation deficiency 1 | 609060 |
| GFPT1 | 126 | 0.99 | 0.96 | Myasthenia, congenital, 12 with tubular aggregates, | 610542 |
| GGCX | 89.8 | 0.99 | 0.96 | Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, | 610842 |
| GGCX | 89.8 | 0.99 | 0.96 | Vitamin K-dependent clotting factors, combined deficiency of, 1 | 277450 |
| GH1 | 167.6 | 1 | 1 | Growth hormone deficiency, isolated, type IA, | 262400 |
| GH1 | 167.6 | 1 | 1 | Growth hormone deficiency, isolated, type IB, | 612781 |
| GH1 | 167.6 | 1 | 1 | Growth hormone deficiency, isolated, type II, | 173100 |
| GH1 | 167.6 | 1 | 1 | Kowarski syndrome, | 262650 |
| GHR | 185.3 | 1 | 1 | Growth hormone insensitivity, partial, | 604271 |
| GHR | 185.3 | 1 | 1 | Increased responsiveness to growth hormone | 604271 |
| GHR | 185.3 | 1 | 1 | Laron dwarfism, | 262500 |
| GHR | 185.3 | 1 | 1 | {Hypercholesterolemia, familial, modifier of}, | 143890 |
| GHRHR | 110.8 | 1 | 1 | Growth hormone deficiency, isolated, type IB, | 612781 |
| GHSR | 144.6 | 0.99 | 0.97 | Growth hormone deficiency, isolated partial, | 615925 |
| GIF | 135.4 | 1 | 1 | Intrinsic factor deficiency, | 261000 |
| GIPC3 | 100.4 | 0.9 | 0.82 | Deafness, autosomal recessive 15 | 601869 |
| GJA1 | 182.8 | 1 | 1 | Atrioventricular septal defect 3 | 600309 |
| GJA1 | 182.8 | 1 | 1 | Craniometaphyseal dysplasia, autosomal recessive, | 218400 |
| GJA1 | 182.8 | 1 | 1 | Erythrokeratodermia variabilis et progressiva, | 133200 |
| GJA1 | 182.8 | 1 | 1 | Hypoplastic left heart syndrome 1 | 241550 |
| GJA1 | 182.8 | 1 | 1 | Oculodentodigital dysplasia, | 164200 |
| GJA1 | 182.8 | 1 | 1 | Oculodentodigital dysplasia, autosomal recessive, | 257850 |
| GJA1 | 182.8 | 1 | 1 | Palmoplantar keratoderma with congenital alopecia, | 104100 |
| GJA1 | 182.8 | 1 | 1 | Syndactyly, type III, | 186100 |
| GJA3 | 120.9 | 1 | 0.96 | Cataract 14 multiple types, | 601885 |
| GJA5 | 224.4 | 1 | 1 | Atrial fibrillation, familial, 11 | 614049 |
| GJA5 | 224.4 | 1 | 1 | Atrial standstill, digenic (GJA5/SCN5A), | 108770 |
| GJA8 | 114 | 1 | 1 | Cataract 1 multiple types, | 116200 |
| GJB1 | 222.4 | 1 | 1 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | 302800 |
| GJB2 | 190.3 | 1 | 1 | Bart-Pumphrey syndrome, | 149200 |
| GJB2 | 190.3 | 1 | 1 | Deafness, autosomal dominant 3A, | 601544 |
| GJB2 | 190.3 | 1 | 1 | Deafness, autosomal recessive 1A, | 220290 |
| GJB2 | 190.3 | 1 | 1 | Hystrix-like ichthyosis with deafness, | 602540 |
| GJB2 | 190.3 | 1 | 1 | Keratitis-ichthyosis-deafness syndrome, | 148210 |
| GJB2 | 190.3 | 1 | 1 | Keratoderma, palmoplantar, with deafness, | 148350 |
| GJB2 | 190.3 | 1 | 1 | Vohwinkel syndrome, | 124500 |
| GJB3 | 283.3 | 1 | 1 | Deafness, autosomal dominant 2B, | 612644 |
| GJB3 | 283.3 | 1 | 1 | Deafness, autosomal dominant, with peripheral neuropathy | 612644 |
| GJB3 | 283.3 | 1 | 1 | Deafness, autosomal recessive | 612644 |
| GJB3 | 283.3 | 1 | 1 | Deafness, digenic, GJB2/GJB3, | 220290 |
| GJB3 | 283.3 | 1 | 1 | Erythrokeratodermia variabilis et progressiva, | 133200 |
| GJB4 | 330.8 | 1 | 1 | Erythrokeratodermia variabilis with erythema gyratum repens, | 133200 |
| GJB6 | 193.1 | 1 | 1 | Deafness, autosomal dominant 3B, | 612643 |
| GJB6 | 193.1 | 1 | 1 | Deafness, autosomal recessive 1B, | 612645 |
| GJB6 | 193.1 | 1 | 1 | Deafness, digenic GJB2/GJB6, | 220290 |
| GJB6 | 193.1 | 1 | 1 | Ectodermal dysplasia 2 Clouston type, | 129500 |
| GJC2 | 38.3 | 0.84 | 0.57 | Leukodystrophy, hypomyelinating, 2 | 608804 |
| GJC2 | 38.3 | 0.84 | 0.57 | Lymphedema, hereditary, IC, | 613480 |
| GJC2 | 38.3 | 0.84 | 0.57 | Spastic paraplegia 44 autosomal recessive, | 613206 |
| GK | 55.6 | 0.83 | 0.67 | Glycerol kinase deficiency, | 307030 |
| GLA | 89.1 | 1 | 0.99 | Fabry disease, | 301500 |
| GLA | 89.1 | 1 | 0.99 | Fabry disease, cardiac variant, | 301500 |
| GLB1 | 72.3 | 0.99 | 0.95 | GM1-gangliosidosis, type I, | 230500 |
| GLB1 | 72.3 | 0.99 | 0.95 | GM1-gangliosidosis, type II, | 230600 |
| GLB1 | 72.3 | 0.99 | 0.95 | GM1-gangliosidosis, type III, | 230650 |
| GLB1 | 72.3 | 0.99 | 0.95 | Mucopolysaccharidosis type IVB (Morquio), | 253010 |
| GLDC | 69 | 0.91 | 0.81 | Glycine encephalopathy, | 605899 |
| GLE1 | 103.5 | 1 | 0.97 | Arthrogryposis, lethal, with anterior horn cell disease, | 611890 |
| GLE1 | 103.5 | 1 | 0.97 | Lethal congenital contracture syndrome 1 | 253310 |
| GLI2 | 102.9 | 0.98 | 0.96 | Culler-Jones syndrome, | 615849 |
| GLI2 | 102.9 | 0.98 | 0.96 | Holoprosencephaly-9, | 610829 |
| GLI3 | 136.7 | 1 | 0.99 | Greig cephalopolysyndactyly syndrome, | 175700 |
| GLI3 | 136.7 | 1 | 0.99 | Pallister-Hall syndrome, | 146510 |
| GLI3 | 136.7 | 1 | 0.99 | Polydactyly, postaxial, types A1 and B, | 174200 |
| GLI3 | 136.7 | 1 | 0.99 | Polydactyly, preaxial, type IV, | 174700 |
| GLI3 | 136.7 | 1 | 0.99 | {Hypothalamic hamartomas, somatic}, | 241800 |
| GLIS2 | 92 | 1 | 0.94 | Nephronophthisis 7 | 611498 |
| GLIS3 | 124.3 | 1 | 0.99 | Diabetes mellitus, neonatal, with congenital hypothyroidism, | 610199 |
| GLMN | 67.1 | 0.99 | 0.85 | Glomuvenous malformations, | 138000 |
| GLRA1 | 105.1 | 1 | 1 | Hyperekplexia, hereditary 1 autosomal dominant or recessive, | 149400 |
| GLRB | 88.6 | 0.97 | 0.89 | Hyperekplexia 2 autosomal recessive, | 614619 |
| GLRX5 | 79.2 | 0.87 | 0.81 | Anemia, sideroblastic, 3 pyridoxine-refractory, | 616860 |
| GLRX5 | 79.2 | 0.87 | 0.81 | Spasticity, childhood-onset, with hyperglycinemia, | 616859 |
| GLUD1 | 65.2 | 0.89 | 0.8 | Hyperinsulinism-hyperammonemia syndrome, | 606762 |
| GLUL | 84.2 | 0.99 | 0.95 | Glutamine deficiency, congenital, | 610015 |
| GLYCTK | 186 | 1 | 1 | D-glyceric aciduria, | 220120 |
| GM2A | 116.8 | 1 | 1 | GM2-gangliosidosis, AB variant, | 272750 |
| GMNN | 93.5 | 0.93 | 0.79 | Meier-Gorlin syndrome 6 | 616835 |
| GMPPA | 125.4 | 1 | 1 | Alacrima, achalasia, and mental retardation syndrome, | 615510 |
| GMPPB | 207.7 | 1 | 1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 | 615350 |
| GMPPB | 207.7 | 1 | 1 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 | 615351 |
| GMPPB | 207.7 | 1 | 1 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 | 615352 |
| GNA11 | 136.9 | 1 | 0.99 | Hypocalcemia, autosomal dominant 2 | 615361 |
| GNA11 | 136.9 | 1 | 0.99 | Hypocalciuric hypercalcemia, type II, | 145981 |
| GNAI2 | 127.8 | 1 | 1 | Pituitary ACTH-secreting adenoma | 145981 |
| GNAI2 | 127.8 | 1 | 1 | Ventricular tachycardia, idiopathic, | 192605 |
| GNAI3 | 99.1 | 1 | 0.95 | Auriculocondylar syndrome 1 | 602483 |
| GNAL | 118.9 | 0.99 | 0.91 | Dystonia 25 | 615073 |
| GNAO1 | 167.2 | 1 | 1 | Epileptic encephalopathy, early infantile, 17 | 615473 |
| GNAQ | 75.9 | 0.89 | 0.72 | Capillary malformations, congenital, 1 somatic, mosaic, | 163000 |
| GNAQ | 75.9 | 0.89 | 0.72 | Sturge-Weber syndrome, somatic, mosaic, | 185300 |
| GNAS | 102.2 | 0.97 | 0.95 | Acromegaly, somatic, | 102200 |
| GNAS | 102.2 | 0.97 | 0.95 | ACTH-independent macronodular adrenal hyperplasia, | 219080 |
| GNAS | 102.2 | 0.97 | 0.95 | McCune-Albright syndrome, somatic, mosaic | 174800 |
| GNAS | 102.2 | 0.97 | 0.95 | Osseous heteroplasia, progressive, | 166350 |
| GNAS | 102.2 | 0.97 | 0.95 | Pseudohypoparathyroidism Ia, | 103580 |
| GNAS | 102.2 | 0.97 | 0.95 | Pseudohypoparathyroidism Ib, | 603233 |
| GNAS | 102.2 | 0.97 | 0.95 | Pseudohypoparathyroidism Ic, | 612462 |
| GNAS | 102.2 | 0.97 | 0.95 | Pseudopseudohypoparathyroidism, | 612463 |
| GNAS | 102.2 | 0.97 | 0.95 | GNAS-AS1 NC NC NC Pseudohypoparathyroidism, type IB, | 603233 |
| GNAT1 | 145.8 | 1 | 1 | Night blindness, congenital stationary, autosomal dominant 3 | 610444 |
| GNAT1 | 145.8 | 1 | 1 | ?Night blindness, congenital stationary, type 1G, | 616389 |
| GNAT2 | 130.2 | 1 | 1 | Achromatopsia-4, | 613856 |
| GNB1 | 162.4 | 1 | 1 | Leukemia,acute lymphoblastic,somatic, | 613065 |
| GNB1 | 162.4 | 1 | 1 | Mental retardation, autosomal dominant 42 | 616973 |
| GNB3 | 173.2 | 1 | 1 | Night blindness, congenital stationary, type 1H, | 617024 |
| GNB3 | 173.2 | 1 | 1 | {Hypertension, essential, susceptibility to}, | 145500 |
| GNB4 | 133.7 | 1 | 1 | Charcot-Marie-Tooth disease, dominant intermediate F, | 615185 |
| GNE | 136.1 | 1 | 0.99 | Nonaka myopathy, | 605820 |
| GNE | 136.1 | 1 | 0.99 | Sialuria, | 269921 |
| GNMT | 143.4 | 0.99 | 0.96 | Glycine N-methyltransferase deficiency, | 606664 |
| GNPAT | 129.1 | 0.99 | 0.95 | Rhizomelic chondrodysplasia punctata, type 2 | 222765 |
| GNPTAB | 150.5 | 0.97 | 0.97 | Mucolipidosis II alpha/beta, | 252500 |
| GNPTAB | 150.5 | 0.97 | 0.97 | Mucolipidosis III alpha/beta, | 252600 |
| GNPTG | 131.6 | 0.93 | 0.84 | Mucolipidosis III gamma, | 252605 |
| GNRHR | 182.5 | 1 | 1 | Hypogonadotropic hypogonadism 7 without anosmia, | 146110 |
| GNS | 95 | 0.97 | 0.93 | Mucopolysaccharidosis type IIID, | 252940 |
| GORAB | 151.7 | 1 | 0.99 | Geroderma osteodysplasticum, | 231070 |
| GOSR2 | 113.6 | 0.97 | 0.96 | Epilepsy, progressive myoclonic 6 | 614018 |
| GOT1 | 110.1 | 1 | 0.97 | Aspartate aminotransferase, serum level of, QTL1, | 614419 |
| GP1BA | 135.4 | 0.97 | 0.94 | Bernard-Soulier syndrome, type A1 (recessive), | 231200 |
| GP1BA | 135.4 | 0.97 | 0.94 | Bernard-Soulier syndrome, type A2 (dominant), | 153670 |
| GP1BA | 135.4 | 0.97 | 0.94 | von Willebrand disease, platelet-type, | 177820 |
| GP1BA | 135.4 | 0.97 | 0.94 | {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, | 258660 |
| GP1BB | 30.6 | 0.69 | 0.61 | Bernard-Soulier syndrome, type B, | 231200 |
| GP1BB | 30.6 | 0.69 | 0.61 | Giant platelet disorder, isolated, | 231200 |
| GP6 | 110.2 | 1 | 1 | Bleeding disorder, platelet-type, 11 | 614201 |
| GP9 | 60.2 | 0.99 | 0.85 | Bernard-Soulier syndrome, type C, | 231200 |
| GPC3 | 119.5 | 1 | 0.98 | Simpson-Golabi-Behmel syndrome, type 1 | 312870 |
| GPC3 | 119.5 | 1 | 0.98 | Wilms tumor, somatic, | 194070 |
| GPC6 | 129.8 | 1 | 1 | Omodysplasia 1 | 258315 |
| GPD1 | 88.8 | 0.99 | 0.92 | Hypertriglyceridemia, transient infantile, | 614480 |
| GPD1L | 132 | 1 | 0.99 | Brugada syndrome 2 | 611777 |
| GPHN | 152.5 | 0.98 | 0.96 | Molybdenum cofactor deficiency C, | 615501 |
| GPI | 126.7 | 1 | 1 | Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, | 613470 |
| GPIHBP1 | 82.6 | 1 | 0.99 | Hyperlipoproteinemia, type 1D, | 615947 |
| GPR101 | 152.2 | 1 | 1 | Pituitary adenoma, growth hormone-secreting 2 | 300943 |
| GPR126 | 142.8 | 0.99 | 0.98 | Lethal congenital contracture syndrome 9 | 616503 |
| GPR143 | 75.7 | 0.91 | 0.87 | Nystagmus 6 congenital, X-linked, | 300814 |
| GPR143 | 75.7 | 0.91 | 0.87 | Ocular albinism, type I, Nettleship-Falls type, | 300500 |
| GPR179 | 112 | 1 | 0.99 | Night blindness, congenital stationary (complete), 1E, autosomal recessive, | 614565 |
| GPR56 | 141.3 | 1 | 1 | Polymicrogyria, bilateral frontoparietal, | 606854 |
| GPR56 | 141.3 | 1 | 1 | Polymicrogyria, bilateral perisylvian, | 615752 |
| GPR98 | 129.7 | 0.99 | 0.95 | Usher syndrome, type 2C, | 605472 |
| GPR98 | 129.7 | 0.99 | 0.95 | Usher syndrome, type 2C, GPR98/PDZD7 digenic, | 605472 |
| GPR98 | 129.7 | 0.99 | 0.95 | ?Febrile seizures, familial, 4 | 604352 |
| GPSM2 | 99.3 | 0.98 | 0.92 | Chudley-McCullough syndrome, | 604213 |
| GPX4 | 165.8 | 0.85 | 0.85 | Spondylometaphyseal dysplasia, Sedaghatian type, | 250220 |
| GRHL2 | 120.8 | 1 | 1 | Deafness, autosomal dominant 28 | 608641 |
| GRHL2 | 120.8 | 1 | 1 | Ectodermal dysplasia/short stature syndrome, | 616029 |
| GRHL3 | 131.2 | 1 | 0.99 | Van der Woude syndrome 2 | 606713 |
| GRHPR | 96.1 | 0.83 | 0.8 | Hyperoxaluria, primary, type II, | 260000 |
| GRIA3 | 115.2 | 1 | 0.98 | Mental retardation, X-linked 94 | 300699 |
| GRID2 | 158.7 | 1 | 1 | Spinocerebellar ataxia, autosomal recessive 18 | 616204 |
| GRIK2 | 127.9 | 0.96 | 0.94 | Mental retardation, autosomal recessive, 6 | 611092 |
| GRIN1 | 136.7 | 1 | 0.99 | Mental retardation, autosomal dominant 8 | 614254 |
| GRIN2A | 138.3 | 1 | 0.99 | Epilepsy, focal, with speech disorder and with or without mental retardation, | 245570 |
| GRIN2B | 162.5 | 1 | 0.99 | Epileptic encephalopathy, early infantile, 27 | 616139 |
| GRIN2B | 162.5 | 1 | 0.99 | Mental retardation, autosomal dominant 6 | 613970 |
| GRIP1 | 123.5 | 1 | 1 | Fraser syndrome, | 219000 |
| GRK1 | 108.4 | 1 | 0.98 | Oguchi disease-2, | 613411 |
| GRM1 | 163.4 | 1 | 0.99 | Spinocerebellar ataxia, autosomal recessive 13 | 614831 |
| GRM6 | 130.9 | 0.88 | 0.84 | Night blindness, congenital stationary (complete), 1B, autosomal recessive, | 257270 |
| GRN | 165.4 | 1 | 1 | Aphasia, primary progressive, | 607485 |
| GRN | 165.4 | 1 | 1 | Ceroid lipofuscinosis, neuronal, 11 | 614706 |
| GRN | 165.4 | 1 | 1 | Frontotemporal lobar degeneration with ubiquitin-positive inclusions, | 607485 |
| GRXCR1 | 173.3 | 1 | 1 | Deafness, autosomal recessive 25 | 613285 |
| GSC | 88.5 | 0.99 | 0.77 | Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, | 602471 |
| GSN | 104.7 | 0.99 | 0.92 | Amyloidosis, Finnish type, | 105120 |
| GSS | 88.9 | 1 | 0.99 | Glutathione synthetase deficiency, | 266130 |
| GSS | 88.9 | 1 | 0.99 | Hemolytic anemia due to glutathione synthetase deficiency, | 231900 |
| GTF2E2 | 75.1 | 0.99 | 0.87 | Trichothiodystrophy 6,nonphotosensitive, | 616943 |
| GTF2H5 | 132.3 | 1 | 0.97 | Trichothiodystrophy 3 photosensitive, | 616395 |
| GTPBP3 | 98.9 | 1 | 0.99 | Combined oxidative phosphorylation deficiency 23 | 616198 |
| GUCA1A | 128.2 | 1 | 1 | Cone dystrophy-3, | 602093 |
| GUCA1A | 128.2 | 1 | 1 | Cone-rod dystrophy 14 | 602093 |
| GUCA1B | 132.7 | 1 | 1 | Retinitis pigmentosa 48 | 613827 |
| GUCY1A3 | 151.2 | 1 | 0.97 | Moyamoya 6 with achalasia, | 615750 |
| GUCY2C | 127.5 | 1 | 0.99 | Diarrhea 6 | 614616 |
| GUCY2C | 127.5 | 1 | 0.99 | Meconium ileus, | 614665 |
| GUCY2D | 80.3 | 0.96 | 0.9 | Cone-rod dystrophy 6 | 601777 |
| GUCY2D | 80.3 | 0.96 | 0.9 | Leber congenital amaurosis 1 | 204000 |
| GUSB | 96.6 | 0.84 | 0.81 | Mucopolysaccharidosis VII, | 253220 |
| GYG1 | 112.9 | 1 | 0.97 | Polyglucosan body myopathy 2 | 616199 |
| GYG1 | 112.9 | 1 | 0.97 | ?Glycogen storage disease XV, | 613507 |
| GYS1 | 96.4 | 1 | 0.98 | Glycogen storage disease 0 muscle, | 611556 |
| GYS2 | 147.2 | 1 | 0.95 | Glycogen storage disease 0 liver, | 240600 |
| GYS2 | 147.2 | 1 | 0.95 | H19 NC NC NC Beckwith-Wiedemann syndrome, | 130650 |
| GYS2 | 147.2 | 1 | 0.95 | Silver-Russell syndrome, | 180860 |
| GYS2 | 147.2 | 1 | 0.95 | Wilms tumor 2 | 194071 |
| H6PD | 136.2 | 0.99 | 0.98 | Cortisone reductase deficiency 1 | 604931 |
| HACE1 | 123.6 | 0.98 | 0.92 | Spastic paraplegia and psychomotor retardation with or without seizures, | 616756 |
| HADH | 97.1 | 0.99 | 0.95 | 3-hydroxyacyl-CoA dehydrogenase deficiency, | 231530 |
| HADH | 97.1 | 0.99 | 0.95 | Hyperinsulinemic hypoglycemia, familial, 4 | 609975 |
| HADHA | 71.7 | 0.95 | 0.9 | Fatty liver, acute, of pregnancy, | 609016 |
| HADHA | 71.7 | 0.95 | 0.9 | HELLP syndrome, maternal, of pregnancy, | 609016 |
| HADHA | 71.7 | 0.95 | 0.9 | LCHAD deficiency, | 609016 |
| HADHA | 71.7 | 0.95 | 0.9 | Trifunctional protein deficiency, | 609015 |
| HADHB | 83.9 | 0.93 | 0.84 | Trifunctional protein deficiency, | 609015 |
| HAMP | 146.2 | 1 | 1 | Hemochromatosis, type 2B, | 613313 |
| HARS | 130.7 | 1 | 1 | Charcot-Marie-Tooth disease, axonal, type 2W, | 616625 |
| HARS | 130.7 | 1 | 1 | Usher syndrome type 3B, | 614504 |
| HAX1 | 117 | 1 | 1 | Neutropenia, severe congenital 3 autosomal recessive, | 610738 |
| HBA1 | 99.9 | 1 | 0.99 | Erythremias, alpha- | 610738 |
| HBA1 | 99.9 | 1 | 0.99 | Heinz body anemias, alpha-, | 140700 |
| HBA1 | 99.9 | 1 | 0.99 | Hemoglobin H disease, nondeletional, | 613978 |
| HBA1 | 99.9 | 1 | 0.99 | Methemoglobinemias, alpha- | 613978 |
| HBA1 | 99.9 | 1 | 0.99 | Thalassemias, alpha-, | 604131 |
| HBA2 | 88.2 | 0.93 | 0.85 | Erythrocytosis | 604131 |
| HBA2 | 88.2 | 0.93 | 0.85 | Heinz body anemia, | 140700 |
| HBA2 | 88.2 | 0.93 | 0.85 | Hemoglobin H disease, nondeletional, | 613978 |
| HBA2 | 88.2 | 0.93 | 0.85 | Hypochromic microcytic anemia | 613978 |
| HBA2 | 88.2 | 0.93 | 0.85 | Thalassemia, alpha-, | 604131 |
| HBB | 151.8 | 1 | 1 | Delta-beta thalassemia, | 141749 |
| HBB | 151.8 | 1 | 1 | Erythremias, beta- | 141749 |
| HBB | 151.8 | 1 | 1 | Heinz body anemias, beta-, | 140700 |
| HBB | 151.8 | 1 | 1 | Hereditary persistence of fetal hemoglobin, | 141749 |
| HBB | 151.8 | 1 | 1 | Methemoglobinemias, beta- | 141749 |
| HBB | 151.8 | 1 | 1 | Sickle cell anemia, | 603903 |
| HBB | 151.8 | 1 | 1 | Thalassemia-beta, dominant inclusion-body, | 603902 |
| HBB | 151.8 | 1 | 1 | Thalassemias, beta-, | 613985 |
| HBB | 151.8 | 1 | 1 | {Malaria, resistance to}, | 611162 |
| HBD | 189.4 | 1 | 1 | Thalassemia due to Hb Lepore | 611162 |
| HBD | 189.4 | 1 | 1 | Thalassemia, delta- | 611162 |
| HBG1 | 153 | 1 | 0.99 | Fetal hemoglobin quantitative trait locus 1 | 141749 |
| HBG2 | 211.3 | 1 | 1 | Cyanosis, transient neonatal, | 613977 |
| HBG2 | 211.3 | 1 | 1 | Fetal hemoglobin quantitative trait locus 1 | 141749 |
| HCCS | 116 | 1 | 0.99 | Linear skin defects with multiple congenital anomalies 1 | 309801 |
| HCFC1 | 124.7 | 0.99 | 0.98 | Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), | 309541 |
| HCN1 | 114.5 | 1 | 0.95 | Epileptic encephalopathy, early infantile, 24 | 615871 |
| HCN4 | 77.5 | 0.98 | 0.92 | Brugada syndrome 8 | 613123 |
| HCN4 | 77.5 | 0.98 | 0.92 | Sick sinus syndrome 2 | 163800 |
| HDAC8 | 162.1 | 1 | 1 | Cornelia de Lange syndrome 5 | 300882 |
| HEATR2 | 90.6 | 0.87 | 0.81 | Ciliary dyskinesia, primary, 18 | 614874 |
| HELLS | 85 | 0.91 | 0.87 | Immunodeficiency-centromeric instability-facial anomalies syndrome 4, | 616911 |
| HEPACAM | 113.8 | 0.92 | 0.79 | Megalencephalic leukoencephalopathy with subcortical cysts 2A, | 613925 |
| HEPACAM | 113.8 | 0.92 | 0.79 | Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental | 613925 |
| HEPACAM | 113.8 | 0.92 | 0.79 | retardation, | 613926 |
| HERC1 | 158.5 | 0.99 | 0.99 | Macrocephaly, dysmorphic facies, and psychomotor retardation, | 617011 |
| HERC2 | 92.4 | 0.78 | 0.74 | Mental retardation, autosomal recessive 38 | 615516 |
| HERC2 | 92.4 | 0.78 | 0.74 | [Skin/hair/eye pigmentation 1 blond/brown hair], | 227220 |
| HERC2 | 92.4 | 0.78 | 0.74 | [Skin/hair/eye pigmentation 1 blue/nonblue eyes], | 227220 |
| HES7 | 34 | 0.7 | 0.63 | Spondylocostal dysostosis 4 autosomal recessive, | 613686 |
| HESX1 | 62.8 | 0.99 | 0.88 | Growth hormone deficiency with pituitary anomalies, | 182230 |
| HESX1 | 62.8 | 0.99 | 0.88 | Pituitary hormone deficiency, combined, 5 | 182230 |
| HESX1 | 62.8 | 0.99 | 0.88 | Septooptic dysplasia, | 182230 |
| HEXA | 105.8 | 1 | 1 | GM2-gangliosidosis, several forms, | 272800 |
| HEXA | 105.8 | 1 | 1 | Tay-Sachs disease, | 272800 |
| HEXA | 105.8 | 1 | 1 | [Hex A pseudodeficiency], | 272800 |
| HEXB | 120.7 | 0.94 | 0.85 | Sandhoff disease, infantile, juvenile, and adult forms, | 268800 |
| HFE | 119.4 | 1 | 1 | Hemochromatosis, | 235200 |
| HFE | 119.4 | 1 | 1 | [Transferrin serum level QTL2], | 614193 |
| HFE | 119.4 | 1 | 1 | {Alzheimer disease, susceptibility to}, | 104300 |
| HFE | 119.4 | 1 | 1 | {Microvascular complications of diabetes 7}, | 612635 |
| HFE | 119.4 | 1 | 1 | {Porphyria cutanea tarda, susceptibility to}, | 176100 |
| HFE | 119.4 | 1 | 1 | {Porphyria variegata, susceptibility to}, | 176200 |
| HFE2 | 106.1 | 1 | 1 | Hemochromatosis type 2A, | 602390 |
| HFM1 | 43.9 | 0.9 | 0.8 | Premature ovarian failure 9 | 615724 |
| HGD | 116.4 | 1 | 1 | Alkaptonuria, | 203500 |
| HGF | 128.7 | 0.99 | 0.96 | Deafness, autosomal recessive 39 | 608265 |
| HGSNAT | 100.1 | 0.81 | 0.81 | Mucopolysaccharidosis type IIIC (Sanfilippo C), | 252930 |
| HGSNAT | 100.1 | 0.81 | 0.81 | Retinitis pigmentosa 73 | 616544 |
| HIBCH | 64 | 0.92 | 0.69 | 3-hydroxyisobutryl-CoA hydrolase deficiency, | 250620 |
| HINT1 | 54 | 0.99 | 0.88 | Neuromyotonia and axonal neuropathy, autosomal recessive, | 137200 |
| HIVEP2 | 168.2 | 1 | 1 | Mental retardation, autosomal dominant 43 | 616977 |
| HK1 | 125.2 | 0.99 | 0.98 | Hemolytic anemia due to hexokinase deficiency, | 235700 |
| HK1 | 125.2 | 0.99 | 0.98 | Neuropathy, hereditary motor and sensory, Russe type, | 605285 |
| HLCS | 142.8 | 1 | 1 | Holocarboxylase synthetase deficiency, | 253270 |
| HMBS | 92.7 | 0.99 | 0.95 | Porphyria, acute intermittent, | 176000 |
| HMBS | 92.7 | 0.99 | 0.95 | Porphyria, acute intermittent, nonerythroid variant, | 176000 |
| HMGCL | 117.1 | 1 | 1 | HMG-CoA lyase deficiency, | 246450 |
| HMGCS2 | 122.1 | 1 | 1 | HMG-CoA synthase-2 deficiency, | 605911 |
| HMOX1 | 114 | 0.93 | 0.88 | Heme oxygenase-1 deficiency, | 614034 |
| HMOX1 | 114 | 0.93 | 0.88 | {Pulmonary disease, chronic obstructive, susceptibility to}, | 606963 |
| HMX1 | 17.6 | 0.71 | 0.36 | Oculoauricular syndrome, | 612109 |
| HNF1A | 123.8 | 0.99 | 0.96 | Diabetes mellitus, insulin-dependent, 20 | 612520 |
| HNF1A | 123.8 | 0.99 | 0.96 | Hepatic adenoma, somatic, | 142330 |
| HNF1A | 123.8 | 0.99 | 0.96 | MODY, type III, | 600496 |
| HNF1A | 123.8 | 0.99 | 0.96 | Renal cell carcinoma, | 144700 |
| HNF1A | 123.8 | 0.99 | 0.96 | {Diabetes mellitus, insulin-dependent}, | 222100 |
| HNF1A | 123.8 | 0.99 | 0.96 | {Diabetes mellitus, noninsulin-dependent, 2}, | 125853 |
| HNF1B | 111.3 | 1 | 1 | Diabetes mellitus, noninsulin-dependent, | 125853 |
| HNF1B | 111.3 | 1 | 1 | Renal cysts and diabetes syndrome, | 137920 |
| HNF1B | 111.3 | 1 | 1 | {Renal cell carcinoma}, | 144700 |
| HNF4A | 126.8 | 0.98 | 0.97 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young, | 616026 |
| HNF4A | 126.8 | 0.98 | 0.97 | MODY, type I, | 125850 |
| HNF4A | 126.8 | 0.98 | 0.97 | {Diabetes mellitus, noninsulin-dependent}, | 125853 |
| HNMT | 121.7 | 1 | 0.96 | Mental retardation, autosomal recessive 51 | 616739 |
| HNMT | 121.7 | 1 | 0.96 | {Asthma, susceptibility to}, | 600807 |
| HNRNPA1 | 65.5 | 0.9 | 0.74 | Amyotrophic lateral sclerosis 20 | 615426 |
| HNRNPA1 | 65.5 | 0.9 | 0.74 | ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 | 615424 |
| HNRNPDL | 59.3 | 0.94 | 0.79 | Muscular dystrophy, limb-girdle, type 1G, | 609115 |
| HNRNPK | 63.9 | 0.83 | 0.74 | Au-Kline syndrome, | 616580 |
| HOGA1 | 115.2 | 1 | 0.89 | Hyperoxaluria, primary, type III, | 613616 |
| HOXA1 | 127 | 1 | 1 | Athabaskan brainstem dysgenesis syndrome, | 601536 |
| HOXA1 | 127 | 1 | 1 | Bosley-Salih-Alorainy syndrome, | 601536 |
| HOXA11 | 89.9 | 0.92 | 0.79 | Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 | 605432 |
| HOXA13 | 41.5 | 0.7 | 0.62 | Guttmacher syndrome, | 176305 |
| HOXA13 | 41.5 | 0.7 | 0.62 | Hand-foot-uterus syndrome, | 140000 |
| HOXB1 | 93.6 | 1 | 1 | Facial paresis, hereditary congenital, 3 | 614744 |
| HOXC13 | 81.4 | 0.95 | 0.87 | Ectodermal dysplasia 9 hair/nail type, | 614931 |
| HOXD10 | 114.7 | 1 | 1 | Charcot-Marie-Tooth disease, foot deformity of, | 192950 |
| HOXD10 | 114.7 | 1 | 1 | Vertical talus, congenital, | 192950 |
| HOXD13 | 93.2 | 0.92 | 0.9 | Brachydactyly, type D, | 113200 |
| HOXD13 | 93.2 | 0.92 | 0.9 | Brachydactyly, type E, | 113300 |
| HOXD13 | 93.2 | 0.92 | 0.9 | Syndactyly, type V, | 186300 |
| HOXD13 | 93.2 | 0.92 | 0.9 | Synpolydactyly 1 | 186000 |
| HOXD13 | 93.2 | 0.92 | 0.9 | ?Brachydactyly-syndactyly syndrome, | 610713 |
| HPCA | 223.2 | 1 | 1 | Dystonia 2 torsion, autosomal recessive, | 224500 |
| HPD | 124.9 | 1 | 1 | Hawkinsinuria, | 140350 |
| HPD | 124.9 | 1 | 1 | Tyrosinemia, type III, | 276710 |
| HPGD | 83.4 | 1 | 0.97 | Cranioosteoarthropathy, | 259100 |
| HPGD | 83.4 | 1 | 0.97 | Digital clubbing, isolated congenital, | 119900 |
| HPGD | 83.4 | 1 | 0.97 | Hypertrophic osteoarthropathy, primary, autosomal recessive 1 | 259100 |
| HPRT1 | 82.3 | 0.96 | 0.89 | HPRT-related gout, | 300323 |
| HPRT1 | 82.3 | 0.96 | 0.89 | Lesch-Nyhan syndrome, | 300322 |
| HPS1 | 104.9 | 1 | 0.99 | Hermansky-Pudlak syndrome 1 | 203300 |
| HPS3 | 122.8 | 1 | 0.98 | Hermansky-Pudlak syndrome 3 | 614072 |
| HPS4 | 124.8 | 1 | 1 | Hermansky-Pudlak syndrome 4 | 614073 |
| HPS5 | 129 | 0.99 | 0.95 | Hermansky-Pudlak syndrome 5 | 614074 |
| HPS6 | 107.4 | 0.98 | 0.85 | Hermansky-Pudlak syndrome 6 | 614075 |
| HPSE2 | 107.3 | 0.93 | 0.9 | Urofacial syndrome 1 | 236730 |
| HR | 86.3 | 0.97 | 0.94 | Alopecia universalis, | 203655 |
| HR | 86.3 | 0.97 | 0.94 | Atrichia with papular lesions, | 209500 |
| HR | 86.3 | 0.97 | 0.94 | Hypotrichosis 4 | 146550 |
| HRAS | 164.2 | 1 | 1 | Congenital myopathy with excess of muscle spindles, | 218040 |
| HRAS | 164.2 | 1 | 1 | Costello syndrome, | 218040 |
| HRAS | 164.2 | 1 | 1 | Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, | 163200 |
| HRAS | 164.2 | 1 | 1 | {Bladder cancer, somatic}, | 109800 |
| HRAS | 164.2 | 1 | 1 | {Nevus sebaceous or woolly hair nevus, somatic}, | 162900 |
| HRAS | 164.2 | 1 | 1 | {Spitz nevus or nevus spilus, somatic}, | 137550 |
| HRAS | 164.2 | 1 | 1 | {Thyroid carcinoma, follicular, somatic}, | 188470 |
| HRG | 150.9 | 0.96 | 0.94 | Thrombophilia due to elevated HRG, | 613116 |
| HRG | 150.9 | 0.96 | 0.94 | Thrombophilia due to HRG deficiency, | 613116 |
| HSD11B1 | 148.7 | 1 | 1 | Cortisone reductase deficiency 2 | 614662 |
| HSD11B2 | 128.2 | 0.89 | 0.85 | Apparent mineralocorticoid excess, | 218030 |
| HSD17B10 | 119 | 1 | 1 | 17-beta-hydroxysteroid dehydrogenase X deficiency, | 300438 |
| HSD17B10 | 119 | 1 | 1 | ?Mental retardation, X-linked syndromic 10 | 300220 |
| HSD17B3 | 128.7 | 1 | 1 | Pseudohermaphroditism, male, with gynecomastia, | 264300 |
| HSD17B4 | 87.3 | 0.92 | 0.89 | D-bifunctional protein deficiency, | 261515 |
| HSD17B4 | 87.3 | 0.92 | 0.89 | Perrault syndrome 1 | 233400 |
| HSD3B2 | 139.3 | 1 | 1 | 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, | 201810 |
| HSD3B7 | 130.4 | 1 | 0.93 | Bile acid synthesis defect, congenital, 1 | 607765 |
| HSF4 | 89.9 | 0.96 | 0.92 | Cataract 5 multiple types, | 116800 |
| HSPA9 | 79 | 0.86 | 0.84 | Anemia, sideroblastic, 4 | 182170 |
| HSPA9 | 79 | 0.86 | 0.84 | Even-plus syndrome, | 616854 |
| HSPB1 | 39 | 0.94 | 0.82 | Charcot-Marie-Tooth disease, axonal, type 2F, | 606595 |
| HSPB1 | 39 | 0.94 | 0.82 | Neuropathy, distal hereditary motor, type IIB, | 608634 |
| HSPB8 | 128.4 | 1 | 1 | Charcot-Marie-Tooth disease, axonal, type 2L, | 608673 |
| HSPB8 | 128.4 | 1 | 1 | Neuropathy, distal hereditary motor, type IIA, | 158590 |
| HSPD1 | 74.8 | 0.93 | 0.81 | Leukodystrophy, hypomyelinating, 4 | 612233 |
| HSPD1 | 74.8 | 0.93 | 0.81 | Spastic paraplegia 13 autosomal dominant, | 605280 |
| HSPG2 | 101.2 | 0.99 | 0.97 | Dyssegmental dysplasia, Silverman-Handmaker type, | 224410 |
| HSPG2 | 101.2 | 0.99 | 0.97 | Schwartz-Jampel syndrome, type 1 | 255800 |
| HTR1A | 161.3 | 1 | 1 | Periodic fever, menstrual cycle dependent, | 614674 |
| HTRA1 | 83.5 | 0.83 | 0.77 | CARASIL syndrome, | 600142 |
| HTRA1 | 83.5 | 0.83 | 0.77 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 600142 |
| HTRA1 | 83.5 | 0.83 | 0.77 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 616779 |
| HTRA1 | 83.5 | 0.83 | 0.77 | {Macular degeneration, age-related, 7}, | 610149 |
| HTRA1 | 83.5 | 0.83 | 0.77 | {Macular degeneration, age-related, neovascular type}, | 610149 |
| HTT | 129.6 | 0.98 | 0.95 | Huntington disease, | 143100 |
| HUWE1 | 117.8 | 0.99 | 0.98 | Mental retardation, X-linked syndromic, Turner type, | 300706 |
| HYDIN | 114.6 | 0.99 | 0.99 | Ciliary dyskinesia, primary, 5 | 608647 |
| HYLS1 | 151.8 | 1 | 1 | Hydrolethalus syndrome, | 236680 |
| ICK | 125.7 | 1 | 0.99 | Endocrine-cerebroosteodysplasia, | 612651 |
| ICOS | 136.6 | 1 | 1 | Immunodeficiency, common variable, 1 | 607594 |
| IDH2 | 81.1 | 1 | 0.96 | D-2-hydroxyglutaric aciduria 2 | 613657 |
| IDH3B | 142.9 | 1 | 1 | Retinitis pigmentosa 46 | 612572 |
| IDS | 112.4 | 1 | 0.98 | Mucopolysaccharidosis II, | 309900 |
| IDUA | 85.1 | 0.89 | 0.82 | Mucopolysaccharidosis Ih, | 607014 |
| IDUA | 85.1 | 0.89 | 0.82 | Mucopolysaccharidosis Ih/s, | 607015 |
| IDUA | 85.1 | 0.89 | 0.82 | Mucopolysaccharidosis Is, | 607016 |
| IER3IP1 | 47.1 | 0.87 | 0.77 | Microcephaly, epilepsy, and diabetes syndrome, | 614231 |
| IFIH1 | 109.1 | 0.97 | 0.95 | Aicardi-Goutieres syndrome 7 | 615846 |
| IFIH1 | 109.1 | 0.97 | 0.95 | Singleton-Merten syndrome 1 | 182250 |
| IFITM5 | 55.8 | 0.93 | 0.85 | Osteogenesis imperfecta, type V, | 610967 |
| IFNGR1 | 125 | 1 | 0.98 | Immunodeficiency 27A, mycobacteriosis, AR, | 209950 |
| IFNGR1 | 125 | 1 | 0.98 | Immunodeficiency 27B, mycobacteriosis, AD, | 615978 |
| IFNGR1 | 125 | 1 | 0.98 | {H, pylori infection, susceptibility to}, | 600263 |
| IFNGR1 | 125 | 1 | 0.98 | {Hepatitis B virus infection, susceptibility to}, | 610424 |
| IFNGR1 | 125 | 1 | 0.98 | {Tuberculosis infection, protection against}, | 607948 |
| IFNGR1 | 125 | 1 | 0.98 | {Tuberculosis, susceptibility to}, | 607948 |
| IFNGR2 | 120.8 | 0.93 | 0.93 | Immunodeficiency 28 mycobacteriosis, | 614889 |
| IFT122 | 130.4 | 1 | 0.99 | Cranioectodermal dysplasia 1 | 218330 |
| IFT140 | 98.2 | 0.99 | 0.97 | Short-rib thoracic dysplasia 9 with or without polydactyly, | 266920 |
| IFT172 | 102 | 0.99 | 0.97 | Retinitis pigmentosa 71 | 616394 |
| IFT172 | 102 | 0.99 | 0.97 | Short-rib thoracic dysplasia 10 with or without polydactyly, | 615630 |
| IFT43 | 100.8 | 1 | 1 | Cranioectodermal dysplasia 3 | 614099 |
| IFT80 | 48.7 | 0.78 | 0.54 | Short-rib thoracic dysplasia 2 with or without polydactyly, | 611263 |
| IGBP1 | 119.4 | 0.99 | 0.95 | Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, | 300472 |
| IGF1 | 125.4 | 1 | 1 | Growth retardation with deafness and mental retardation due to IGF1 deficiency, | 608747 |
| IGF1R | 121.1 | 1 | 0.98 | Insulin-like growth factor I, resistance to, | 270450 |
| IGF2R | 121.1 | 0.97 | 0.96 | Hepatocellular carcinoma, somatic, | 114550 |
| IGFALS | 56.4 | 1 | 0.94 | Acid-labile subunit, deficiency of, | 615961 |
| IGFBP7 | 60.2 | 0.96 | 0.81 | Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, | 614224 |
| IGHG2 | 39.7 | 0.82 | 0.6 | IgG2 deficiency, selective | 614224 |
| IGHM | 176.1 | 1 | 1 | Agammaglobulinemia 1 | 601495 |
| IGHMBP2 | 88.4 | 0.96 | 0.89 | Charcot-Marie-Tooth disease, axonal, type 2S, | 616155 |
| IGHMBP2 | 88.4 | 0.96 | 0.89 | Neuronopathy, distal hereditary motor, type VI, | 604320 |
| IGKC | 123 | 1 | 1 | Kappa light chain deficiency, | 614102 |
| IGLL1 | 60.7 | 0.99 | 0.95 | Agammaglobulinemia 2 | 613500 |
| IGSF1 | 103 | 1 | 0.99 | Hypothyroidism, central, and testicular enlargement, | 300888 |
| IHH | 107.7 | 1 | 1 | Acrocapitofemoral dysplasia, | 607778 |
| IHH | 107.7 | 1 | 1 | Brachydactyly, type A1, | 112500 |
| IKBKAP | 128.4 | 0.99 | 0.98 | Dysautonomia, familial, | 223900 |
| IKBKB | 107.5 | 0.96 | 0.92 | Immunodeficiency 15 | 615592 |
| IKBKG | 51 | 0.9 | 0.73 | Ectodermal dysplasia, hypohidrotic, with immune deficiency, | 300291 |
| IKBKG | 51 | 0.9 | 0.73 | Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, | 300301 |
| IKBKG | 51 | 0.9 | 0.73 | Immunodeficiency 33 | 300636 |
| IKBKG | 51 | 0.9 | 0.73 | Immunodeficiency, isolated, | 300584 |
| IKBKG | 51 | 0.9 | 0.73 | Incontinentia pigmenti, | 308300 |
| IKBKG | 51 | 0.9 | 0.73 | Invasive pneumococcal disease, recurrent isolated, 2 | 300640 |
| IKZF1 | 164.1 | 1 | 1 | Immunodeficiency,common variable, 1, | 616873 |
| IL10RA | 125.1 | 1 | 1 | Inflammatory bowel disease 28 early onset, autosomal recessive, | 613148 |
| IL10RB | 166.2 | 0.95 | 0.95 | Inflammatory bowel disease 25 early onset, autosomal recessive, | 612567 |
| IL10RB | 166.2 | 0.95 | 0.95 | {Hepatitis B virus, susceptibility to}, | 610424 |
| IL11RA | 122.8 | 1 | 1 | Craniosynostosis and dental anomalies, | 614188 |
| IL12B | 99.4 | 1 | 0.97 | Immunodeficiency 29 mycobacteriosis, | 614890 |
| IL12RB1 | 110.8 | 0.96 | 0.93 | Immunodeficiency 30 | 614891 |
| IL17RC | 79.3 | 0.99 | 0.96 | Candidiasis, familial, 9 | 616445 |
| IL17RD | 114.4 | 1 | 0.96 | Hypogonadotropic hypogonadism 18 with or without anosmia, | 615267 |
| IL1RAPL1 | 150.3 | 1 | 1 | Mental retardation, X-linked 21/34, | 300143 |
| IL1RN | 147.6 | 1 | 1 | Interleukin 1 receptor antagonist deficiency, | 612852 |
| IL1RN | 147.6 | 1 | 1 | {Gastric cancer risk after H, pylori infection}, | 137215 |
| IL1RN | 147.6 | 1 | 1 | {Microvascular complications of diabetes 4}, | 612628 |
| IL21R | 116.3 | 1 | 1 | Immunodeficiency, primary, autosomal recessive, IL21R-related, | 615207 |
| IL21R | 116.3 | 1 | 1 | [IgE, elevated level of], | 147050 |
| IL2RA | 104.6 | 1 | 0.96 | Immunodeficiency 41 with lymphoproliferation and autoimmunity, | 606367 |
| IL2RA | 104.6 | 1 | 0.96 | {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, | 601942 |
| IL2RG | 83.4 | 1 | 1 | Combined immunodeficiency, X-linked, moderate, | 312863 |
| IL2RG | 83.4 | 1 | 1 | Severe combined immunodeficiency, X-linked, | 300400 |
| IL31RA | 124.3 | 1 | 1 | Amyloidosis, primary localized cutaneous, 2 | 613955 |
| IL36RN | 74.6 | 1 | 1 | Psoriasis 14 pustular, | 614204 |
| IL7R | 120.6 | 1 | 0.99 | Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, | 608971 |
| ILDR1 | 94.1 | 0.99 | 0.98 | Deafness, autosomal recessive 42 | 609646 |
| IMPAD1 | 126.8 | 1 | 0.99 | Chondrodysplasia with joint dislocations, GPAPP type, | 614078 |
| IMPDH1 | 45 | 0.87 | 0.77 | Leber congenital amaurosis 11 | 613837 |
| IMPDH1 | 45 | 0.87 | 0.77 | Retinitis pigmentosa 10 | 180105 |
| IMPG1 | 99.8 | 0.99 | 0.97 | Macular dystrophy, vitelliform, 4 | 616151 |
| IMPG2 | 151.8 | 0.98 | 0.96 | Macular dystrophy, vitelliform, 5 | 616152 |
| IMPG2 | 151.8 | 0.98 | 0.96 | Retinitis pigmentosa 56 | 613581 |
| INF2 | 73.6 | 0.92 | 0.89 | Charcot-Marie-Tooth disease, dominant intermediate E, | 614455 |
| INF2 | 73.6 | 0.92 | 0.89 | Glomerulosclerosis, focal segmental, 5 | 613237 |
| ING1 | 102.6 | 1 | 0.95 | Squamous cell carcinoma, head and neck, somatic, | 275355 |
| INPP5E | 86.6 | 0.92 | 0.9 | Joubert syndrome 1 | 213300 |
| INPP5E | 86.6 | 0.92 | 0.9 | Mental retardation, truncal obesity, retinal dystrophy, and micropenis, | 610156 |
| INPPL1 | 107.8 | 0.97 | 0.9 | Opsismodysplasia, | 258480 |
| INS | 84.7 | 1 | 1 | Diabetes mellitus, insulin-dependent, 2 | 125852 |
| INS | 84.7 | 1 | 1 | Diabetes mellitus, permanent neonatal, | 606176 |
| INS | 84.7 | 1 | 1 | Hyperproinsulinemia, | 616214 |
| INS | 84.7 | 1 | 1 | Maturity-onset diabetes of the young, type 10 | 613370 |
| INSL3 | 80.9 | 0.8 | 0.8 | Cryptorchidism, | 219050 |
| INSR | 112.2 | 0.95 | 0.92 | Diabetes mellitus, insulin-resistant, with acanthosis nigricans, | 610549 |
| INSR | 112.2 | 0.95 | 0.92 | Hyperinsulinemic hypoglycemia, familial, 5 | 609968 |
| INSR | 112.2 | 0.95 | 0.92 | Leprechaunism, | 246200 |
| INSR | 112.2 | 0.95 | 0.92 | Rabson-Mendenhall syndrome, | 262190 |
| INVS | 144.1 | 0.99 | 0.99 | Nephronophthisis 2 infantile, | 602088 |
| IQCB1 | 87.6 | 0.86 | 0.71 | Senior-Loken syndrome 5 | 609254 |
| IQSEC2 | 72.6 | 0.95 | 0.88 | Mental retardation, X-linked 1/78, | 309530 |
| IRAK4 | 87.9 | 1 | 0.85 | Invasive pneumococcal disease, recurrent isolated, 1 | 610799 |
| IRAK4 | 87.9 | 1 | 0.85 | IRAK4 deficiency, | 607676 |
| IRF1 | 143.6 | 1 | 0.98 | Gastric cancer, somatic, | 613659 |
| IRF1 | 143.6 | 1 | 0.98 | Myelodysplastic syndrome, preleukemic | 613659 |
| IRF1 | 143.6 | 1 | 0.98 | Myelogenous leukemia, acute | 613659 |
| IRF1 | 143.6 | 1 | 0.98 | Nonsmall cell lung cancer, somatic, | 211980 |
| IRF6 | 106.9 | 1 | 0.97 | Popliteal pterygium syndrome 1 | 119500 |
| IRF6 | 106.9 | 1 | 0.97 | van der Woude syndrome, | 119300 |
| IRF6 | 106.9 | 1 | 0.97 | {Orofacial cleft 6}, | 608864 |
| IRF8 | 94.4 | 0.97 | 0.93 | Immunodeficiency 32A, mycobacteriosis, autosomal dominant, | 614893 |
| IRF8 | 94.4 | 0.97 | 0.93 | Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, | 614894 |
| IRGM | 161.8 | 1 | 1 | Inflammatory bowel disease 19 | 612278 |
| IRGM | 161.8 | 1 | 1 | {Mycobacterium tuberculosis, protection against}, | 607948 |
| IRX5 | 67 | 0.89 | 0.82 | Hamamy syndrome, | 611174 |
| ISCA2 | 61.6 | 0.98 | 0.83 | Multiple mitochondrial dysfunctions syndrome 4 | 616370 |
| ISCU | 112 | 1 | 1 | Myopathy with lactic acidosis, hereditary, | 255125 |
| ISG15 | 121.9 | 1 | 1 | Immunodeficiency 38 | 616126 |
| ISPD | 97.6 | 0.99 | 0.84 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | 614643 |
| ISPD | 97.6 | 0.99 | 0.84 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 | 616052 |
| ITCH | 106.4 | 0.95 | 0.95 | Autoimmune disease, multisystem, with facial dysmorphism, | 613385 |
| ITGA2B | 99.8 | 0.98 | 0.96 | Bleeding disorder, platelet-type, 16 autosomal dominant, | 187800 |
| ITGA2B | 99.8 | 0.98 | 0.96 | Glanzmann thrombasthenia, | 273800 |
| ITGA2B | 99.8 | 0.98 | 0.96 | Thrombocytopenia, neonatal alloimmune, BAK antigen related | 273800 |
| ITGA3 | 118.9 | 0.98 | 0.95 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, | 614748 |
| ITGA6 | 134.2 | 0.99 | 0.98 | Epidermolysis bullosa, junctional, with pyloric stenosis, | 226730 |
| ITGA7 | 108.9 | 0.99 | 0.96 | Muscular dystrophy, congenital, due to ITGA7 deficiency, | 613204 |
| ITGA8 | 118 | 0.99 | 0.97 | Renal hypodysplasia/aplasia 1 | 191830 |
| ITGB2 | 148.7 | 1 | 1 | Leukocyte adhesion deficiency, | 116920 |
| ITGB3 | 125.5 | 0.98 | 0.96 | Bleeding disorder, platelet-type, 16 autosomal dominant, | 187800 |
| ITGB3 | 125.5 | 0.98 | 0.96 | Glanzmann thrombasthenia, | 273800 |
| ITGB3 | 125.5 | 0.98 | 0.96 | Purpura, posttransfusion | 273800 |
| ITGB3 | 125.5 | 0.98 | 0.96 | Thrombocytopenia, neonatal alloimmune | 273800 |
| ITGB3 | 125.5 | 0.98 | 0.96 | {Myocardial infarction, susceptibility to}, | 608446 |
| ITGB4 | 123.4 | 0.97 | 0.94 | Epidermolysis bullosa of hands and feet, | 131800 |
| ITGB4 | 123.4 | 0.97 | 0.94 | Epidermolysis bullosa, junctional, non-Herlitz type, | 226650 |
| ITGB4 | 123.4 | 0.97 | 0.94 | Epidermolysis bullosa, junctional, with pyloric atresia, | 226730 |
| ITGB6 | 126.9 | 0.95 | 0.95 | Amelogenesis imperfecta, type IH, | 616221 |
| ITK | 110.8 | 1 | 0.97 | Lymphoproliferative syndrome 1 | 613011 |
| ITM2B | 101.9 | 1 | 0.94 | Dementia, familial British, | 176500 |
| ITM2B | 101.9 | 1 | 0.94 | Dementia, familial Danish, | 117300 |
| ITM2B | 101.9 | 1 | 0.94 | ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities, | 616079 |
| ITPA | 112.5 | 1 | 1 | Epileptic encephalopathy, early infantile, 35 | 616647 |
| ITPA | 112.5 | 1 | 1 | [Inosine triphosphatase deficiency], | 613850 |
| ITPR1 | 135.9 | 1 | 0.98 | Gillespie syndrome, | 206700 |
| ITPR1 | 135.9 | 1 | 0.98 | Spinocerebellar ataxia 15 | 606658 |
| ITPR1 | 135.9 | 1 | 0.98 | Spinocerebellar ataxia 29 congenital nonprogressive, | 117360 |
| IVD | 98.7 | 1 | 0.97 | Isovaleric acidemia, | 243500 |
| IYD | 101.3 | 0.98 | 0.96 | Thyroid dyshormonogenesis 4 | 274800 |
| JAG1 | 127.4 | 0.98 | 0.97 | Alagille syndrome, | 118450 |
| JAG1 | 127.4 | 0.98 | 0.97 | Tetralogy of Fallot, | 187500 |
| JAG1 | 127.4 | 0.98 | 0.97 | ?Deafness, congenital heart defects, and posterior embryotoxon | 187500 |
| JAGN1 | 126.1 | 1 | 1 | Neutropenia, severe congenital, 6 autosomal recessive, | 616022 |
| JAK2 | 83.3 | 0.95 | 0.88 | Erythrocytosis, somatic, | 133100 |
| JAK2 | 83.3 | 0.95 | 0.88 | Leukemia, acute myeloid, somatic, | 601626 |
| JAK2 | 83.3 | 0.95 | 0.88 | Myelofibrosis, somatic, | 254450 |
| JAK2 | 83.3 | 0.95 | 0.88 | Polycythemia vera, somatic, | 263300 |
| JAK2 | 83.3 | 0.95 | 0.88 | Thrombocythemia 3 | 614521 |
| JAK2 | 83.3 | 0.95 | 0.88 | {Budd-Chiari syndrome, somatic}, | 600800 |
| JAK3 | 87.2 | 0.96 | 0.93 | SCID, autosomal recessive, T-negative/B-positive type, | 600802 |
| JAM3 | 133.8 | 1 | 0.97 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, | 613730 |
| JPH2 | 86.5 | 0.94 | 0.83 | Cardiomyopathy, hypertrophic, 17 | 613873 |
| JPH3 | 117.9 | 1 | 1 | Huntington disease-like 2 | 606438 |
| JUP | 126.3 | 0.99 | 0.98 | Arrhythmogenic right ventricular dysplasia 12 | 611528 |
| JUP | 126.3 | 0.99 | 0.98 | Naxos disease, | 601214 |
| KAL1 | 100.6 | 0.89 | 0.86 | Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), | 308700 |
| KANK1 | 133.8 | 1 | 1 | Cerebral palsy, spastic quadriplegic, 2 | 612900 |
| KANK2 | 130.3 | 1 | 0.99 | Palmoplantar keratoderma and woolly hair, | 616099 |
| KANSL1 | 63.3 | 0.94 | 0.85 | Koolen-De Vries syndrome, | 610443 |
| KARS | 104.7 | 1 | 0.99 | Deafness, autosomal recessive 89 | 613916 |
| KARS | 104.7 | 1 | 0.99 | ?Charcot-Marie-Tooth disease, recessive intermediate, B, | 613641 |
| KAT6A | 154.1 | 1 | 0.99 | Mental retardation, autosomal dominant 32 | 616268 |
| KAT6B | 150.7 | 0.99 | 0.97 | Genitopatellar syndrome, | 606170 |
| KAT6B | 150.7 | 0.99 | 0.97 | SBBYSS syndrome, | 603736 |
| KATNB1 | 125.5 | 1 | 1 | Lissencephaly 6 with microcephaly, | 616212 |
| KBTBD13 | 87.8 | 0.98 | 0.92 | Nemaline myopathy 6 autosomal dominant, | 609273 |
| KCNA1 | 124.9 | 0.99 | 0.98 | Episodic ataxia/myokymia syndrome, | 160120 |
| KCNA2 | 130.8 | 1 | 1 | Epileptic encephalopathy, early infantile, 32 | 616366 |
| KCNA5 | 130.3 | 1 | 0.93 | Atrial fibrillation, familial, 7 | 612240 |
| KCNB1 | 115.8 | 1 | 1 | Epileptic encephalopathy, early infantile, 26 | 616056 |
| KCNC1 | 155 | 1 | 1 | Epilepsy, progressive myoclonic 7 | 616187 |
| KCNC3 | 132.5 | 0.66 | 0.57 | Spinocerebellar ataxia 13 | 605259 |
| KCND3 | 168.2 | 1 | 0.96 | Brugada syndrome 9 | 616399 |
| KCND3 | 168.2 | 1 | 0.96 | Spinocerebellar ataxia 19 | 607346 |
| KCNE1 | 388.5 | 1 | 1 | Jervell and Lange-Nielsen syndrome 2 | 612347 |
| KCNE1 | 388.5 | 1 | 1 | Long QT syndrome 5 | 613695 |
| KCNE2 | 142 | 1 | 0.94 | Atrial fibrillation, familial, 4 | 611493 |
| KCNE2 | 142 | 1 | 0.94 | Long QT syndrome 6 | 613693 |
| KCNE3 | 158.2 | 1 | 1 | Brugada syndrome 6 | 613119 |
| KCNH1 | 157.5 | 1 | 0.99 | Temple-Baraitser syndrome, | 611816 |
| KCNH1 | 157.5 | 1 | 0.99 | Zimmermann-Laband syndrome 1 | 135500 |
| KCNH2 | 90.3 | 0.91 | 0.82 | Long QT syndrome 2 | 613688 |
| KCNH2 | 90.3 | 0.91 | 0.82 | Short QT syndrome 1 | 609620 |
| KCNH2 | 90.3 | 0.91 | 0.82 | {Long QT syndrome 2 acquired, susceptibility to}, | 613688 |
| KCNJ1 | 205.1 | 1 | 1 | Bartter syndrome, type 2 | 241200 |
| KCNJ10 | 171.3 | 1 | 0.98 | Enlarged vestibular aqueduct, digenic, | 600791 |
| KCNJ10 | 171.3 | 1 | 0.98 | SESAME syndrome, | 612780 |
| KCNJ11 | 230.5 | 1 | 1 | Diabetes mellitus, permanent neonatal, with neurologic features, | 606176 |
| KCNJ11 | 230.5 | 1 | 1 | Diabetes mellitus, transient neonatal, 3 | 610582 |
| KCNJ11 | 230.5 | 1 | 1 | Diabetes, permanent neonatal, | 606176 |
| KCNJ11 | 230.5 | 1 | 1 | Hyperinsulinemic hypoglycemia, familial, 2 | 601820 |
| KCNJ11 | 230.5 | 1 | 1 | Maturity-onset diabetes of the young, type 13 | 616329 |
| KCNJ11 | 230.5 | 1 | 1 | {Diabetes mellitus, type 2 susceptibility to}, | 125853 |
| KCNJ13 | 165.1 | 1 | 1 | Leber congenital amaurosis 16 | 614186 |
| KCNJ13 | 165.1 | 1 | 1 | Snowflake vitreoretinal degeneration, | 193230 |
| KCNJ2 | 172.1 | 1 | 1 | Andersen syndrome, | 170390 |
| KCNJ2 | 172.1 | 1 | 1 | Atrial fibrillation, familial, 9 | 613980 |
| KCNJ2 | 172.1 | 1 | 1 | Short QT syndrome 3 | 609622 |
| KCNJ5 | 183.2 | 0.99 | 0.96 | Hyperaldosteronism, familial, type III, | 613677 |
| KCNJ5 | 183.2 | 0.99 | 0.96 | Long QT syndrome 13 | 613485 |
| KCNJ6 | 155 | 1 | 1 | Keppen-Lubinsky syndrome, | 614098 |
| KCNK3 | 124.7 | 0.98 | 0.94 | Pulmonary hypertension, primary, 4 | 615344 |
| KCNK9 | 152.4 | 1 | 1 | Birk-Barel mental retardation dysmorphism syndrome, | 612292 |
| KCNMA1 | 119.7 | 1 | 1 | Generalized epilepsy and paroxysmal dyskinesia, | 609446 |
| KCNN4 | 102.7 | 1 | 1 | Dehydrated hereditary stomatocytosis 2 | 616689 |
| KCNQ1 | 102.6 | 0.93 | 0.91 | Atrial fibrillation, familial, 3 | 607554 |
| KCNQ1 | 102.6 | 0.93 | 0.91 | Jervell and Lange-Nielsen syndrome, | 220400 |
| KCNQ1 | 102.6 | 0.93 | 0.91 | Long QT syndrome 1 | 192500 |
| KCNQ1 | 102.6 | 0.93 | 0.91 | Short QT syndrome 2 | 609621 |
| KCNQ1 | 102.6 | 0.93 | 0.91 | {Long QT syndrome 1 acquired, susceptibility to}, | 192500 |
| KCNQ1 | 102.6 | 0.93 | 0.91 | KCNQ1OT1 NC NC NC Beckwith-Wiedemann syndrome, | 130650 |
| KCNQ2 | 84.4 | 0.99 | 0.98 | Epileptic encephalopathy, early infantile, 7 | 613720 |
| KCNQ2 | 84.4 | 0.99 | 0.98 | Myokymia, | 121200 |
| KCNQ2 | 84.4 | 0.99 | 0.98 | Seizures, benign neonatal, 1 | 121200 |
| KCNQ3 | 93.9 | 1 | 0.95 | Seizures, benign neonatal, type 2 | 121201 |
| KCNQ4 | 119.9 | 0.94 | 0.85 | Deafness, autosomal dominant 2A, | 600101 |
| KCNT1 | 98.7 | 0.95 | 0.89 | Epilepsy, nocturnal frontal lobe, 5 | 615005 |
| KCNT1 | 98.7 | 0.95 | 0.89 | Epileptic encephalopathy, early infantile, 14 | 614959 |
| KCNV2 | 106.4 | 1 | 1 | Retinal cone dystrophy 3B, | 610356 |
| KCTD1 | 119.4 | 0.91 | 0.85 | Scalp-ear-nipple syndrome, | 181270 |
| KCTD17 | 90.2 | 0.97 | 0.89 | Dystonia 26 myoclonic, | 616398 |
| KCTD7 | 117.8 | 0.94 | 0.92 | Epilepsy, progressive myoclonic 3 with or without intracellular inclusions, | 611726 |
| KDM1A | 121.4 | 0.97 | 0.93 | Cleft palate, psychomotor retardation, and distinctive facial features, | 616728 |
| KDM5C | 126.4 | 0.97 | 0.96 | Mental retardation, X-linked, syndromic, Claes-Jensen type, | 300534 |
| KDM6A | 127.3 | 0.94 | 0.89 | Kabuki syndrome 2 | 300867 |
| KDR | 128.8 | 1 | 0.99 | Hemangioma, capillary infantile, somatic, | 602089 |
| KDR | 128.8 | 1 | 0.99 | {Hemangioma, capillary infantile, susceptibility to}, | 602089 |
| KERA | 173 | 1 | 1 | Cornea plana congenita, recessive, | 217300 |
| KHDC3L | 125.7 | 1 | 0.99 | Hydatidiform mole, recurrent, 2 | 614293 |
| KIAA0196 | 123.8 | 0.97 | 0.95 | Ritscher-Schinzel syndrome 1 | 220210 |
| KIAA0196 | 123.8 | 0.97 | 0.95 | Spastic paraplegia 8 autosomal dominant, | 603563 |
| KIAA0586 | 101.5 | 0.99 | 0.89 | Joubert syndrome 23 | 616490 |
| KIAA0586 | 101.5 | 0.99 | 0.89 | Short-rib thoracic dysplasia 14 with polydactyly, | 616546 |
| KIAA1279 | 165.1 | 1 | 0.99 | Goldberg-Shprintzen megacolon syndrome, | 609460 |
| KIAA2022 | 186.8 | 1 | 0.99 | Mental retardation, X-linked 98 | 300912 |
| KIF11 | 78.5 | 0.97 | 0.91 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, | 152950 |
| KIF1A | 112.1 | 0.99 | 0.95 | Mental retardation, autosomal dominant 9 | 614255 |
| KIF1A | 112.1 | 0.99 | 0.95 | Neuropathy, hereditary sensory, type IIC, | 614213 |
| KIF1A | 112.1 | 0.99 | 0.95 | Spastic paraplegia 30 autosomal recessive, | 610357 |
| KIF1B | 137.7 | 0.99 | 0.98 | Pheochromocytoma, | 171300 |
| KIF1B | 137.7 | 0.99 | 0.98 | ?Charcot-Marie-Tooth disease, type 2A1, | 118210 |
| KIF1B | 137.7 | 0.99 | 0.98 | {Neuroblastoma, susceptibility to, 1}, | 256700 |
| KIF1C | 93.5 | 1 | 0.99 | Spastic ataxia 2 autosomal recessive, | 611302 |
| KIF21A | 111.2 | 0.99 | 0.95 | Fibrosis of extraocular muscles, congenital, 1 | 135700 |
| KIF21A | 111.2 | 0.99 | 0.95 | Fibrosis of extraocular muscles, congenital, 3B, | 135700 |
| KIF22 | 127.7 | 0.99 | 0.98 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 | 603546 |
| KIF2A | 93.6 | 0.96 | 0.82 | Cortical dysplasia, complex, with other brain malformations 3 | 615411 |
| KIF5A | 111.5 | 1 | 0.99 | Spastic paraplegia 10 autosomal dominant, | 604187 |
| KIF5C | 98 | 0.99 | 0.97 | Cortical dysplasia, complex, with other brain malformations 2 | 615282 |
| KIF7 | 71.1 | 0.96 | 0.84 | Acrocallosal syndrome, | 200990 |
| KIF7 | 71.1 | 0.96 | 0.84 | Joubert syndrome 12 | 200990 |
| KIF7 | 71.1 | 0.96 | 0.84 | ?Al-Gazali-Bakalinova syndrome, | 607131 |
| KIF7 | 71.1 | 0.96 | 0.84 | ?Hydrolethalus syndrome 2 | 614120 |
| KIRREL3 | 130.2 | 1 | 0.98 | Mental retardation, autosomal dominant 4 | 612581 |
| KISS1R | 82.5 | 0.99 | 0.96 | Hypogonadotropic hypogonadism 8 with or without anosmia, | 614837 |
| KISS1R | 82.5 | 0.99 | 0.96 | ?Precocious puberty, central, 1 | 176400 |
| KIT | 140.5 | 1 | 0.99 | Gastrointestinal stromal tumor, familial, | 606764 |
| KIT | 140.5 | 1 | 0.99 | Germ cell tumors, | 273300 |
| KIT | 140.5 | 1 | 0.99 | Leukemia, acute myeloid, | 601626 |
| KIT | 140.5 | 1 | 0.99 | Mast cell disease, | 154800 |
| KIT | 140.5 | 1 | 0.99 | Piebaldism, | 172800 |
| KITLG | 75.4 | 0.92 | 0.85 | Deafness, congenital, unilateral or asymmetric, | 616697 |
| KITLG | 75.4 | 0.92 | 0.85 | Hyperpigmentation with or without hypopigmentation, | 145250 |
| KITLG | 75.4 | 0.92 | 0.85 | [Skin/hair/eye pigmentation 7 blond/brown hair], | 611664 |
| KIZ | 155.9 | 1 | 0.95 | Retinitis pigmentosa 69 | 615780 |
| KL | 150.2 | 0.95 | 0.94 | Tumoral calcinosis, hyperphosphatemic, | 211900 |
| KL | 150.2 | 0.95 | 0.94 | {Coronary artery disease, susceptibility to} | 211900 |
| KLC2 | 100.9 | 1 | 0.98 | Spastic paraplegia, optic atrophy, and neuropathy, | 609541 |
| KLF1 | 48.6 | 0.9 | 0.83 | Blood group--Lutheran inhibitor, | 111150 |
| KLF1 | 48.6 | 0.9 | 0.83 | Dyserythropoietic anemia, congenital, type IV, | 613673 |
| KLF1 | 48.6 | 0.9 | 0.83 | [Hereditary persistence of fetal hemoglobin], | 613566 |
| KLF11 | 145.5 | 1 | 1 | Maturity-onset diabetes of the young, type VII, | 610508 |
| KLF6 | 115.1 | 1 | 0.96 | Gastric cancer, somatic, | 613659 |
| KLF6 | 115.1 | 1 | 0.96 | Prostate cancer, somatic, | 176807 |
| KLHL10 | 177.6 | 1 | 0.98 | Spermatogenic failure 11 | 615081 |
| KLHL3 | 122.5 | 0.99 | 0.99 | Pseudohypoaldosteronism, type IID, | 614495 |
| KLHL40 | 113.8 | 1 | 1 | Nemaline myopathy 8 autosomal recessive, | 615348 |
| KLHL41 | 173.4 | 1 | 0.99 | Nemaline myopathy 9 | 615731 |
| KLHL7 | 112.9 | 0.98 | 0.96 | Cold induced sweating syndrome 3 | 617055 |
| KLHL7 | 112.9 | 0.98 | 0.96 | Retinitis pigmentosa 42 | 612943 |
| KLK4 | 170.7 | 1 | 0.98 | Amelogenesis imperfecta, type IIA1, | 204700 |
| KLKB1 | 142.2 | 0.93 | 0.92 | Fletcher factor (prekallikrein) deficiency, | 612423 |
| KLLN | 108.6 | 1 | 1 | Cowden syndrome 4 | 615107 |
| KMT2A | 141.3 | 0.99 | 0.98 | Leukemia, myeloid/lymphoid or mixed-lineage | 615107 |
| KMT2A | 141.3 | 0.99 | 0.98 | Wiedemann-Steiner syndrome, | 605130 |
| KMT2D | 126.4 | 1 | 0.99 | Kabuki syndrome 1 | 147920 |
| KPTN | 96.1 | 1 | 0.98 | Mental retardation, autosomal recessive 41 | 615637 |
| KRAS | 54.9 | 1 | 0.99 | Bladder cancer, somatic, | 109800 |
| KRAS | 54.9 | 1 | 0.99 | Breast cancer, somatic, | 114480 |
| KRAS | 54.9 | 1 | 0.99 | Cardiofaciocutaneous syndrome 2 | 615278 |
| KRAS | 54.9 | 1 | 0.99 | Gastric cancer, somatic, | 137215 |
| KRAS | 54.9 | 1 | 0.99 | Leukemia, acute myeloid, | 601626 |
| KRAS | 54.9 | 1 | 0.99 | Lung cancer, somatic, | 211980 |
| KRAS | 54.9 | 1 | 0.99 | Noonan syndrome 3 | 609942 |
| KRAS | 54.9 | 1 | 0.99 | Pancreatic carcinoma, somatic, | 260350 |
| KRAS | 54.9 | 1 | 0.99 | RAS-associated autoimmune leukoproliferative disorder, | 614470 |
| KRAS | 54.9 | 1 | 0.99 | Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, | 163200 |
| KRIT1 | 76.6 | 0.98 | 0.9 | Cavernous malformations of CNS and retina, | 116860 |
| KRIT1 | 76.6 | 0.98 | 0.9 | Cerebral cavernous malformations-1, | 116860 |
| KRIT1 | 76.6 | 0.98 | 0.9 | Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary | 116860 |
| KRIT1 | 76.6 | 0.98 | 0.9 | malformations, | 116860 |
| KRT1 | 121 | 1 | 1 | Epidermolytic hyperkeratosis, | 113800 |
| KRT1 | 121 | 1 | 1 | Ichthyosis histrix, Curth-Macklin type, | 146590 |
| KRT1 | 121 | 1 | 1 | Ichthyosis, cyclic, with epidermolytic hyperkeratosis, | 607602 |
| KRT1 | 121 | 1 | 1 | Keratosis palmoplantaris striata III, | 607654 |
| KRT1 | 121 | 1 | 1 | Palmoplantar keratoderma, epidermolytic, | 144200 |
| KRT1 | 121 | 1 | 1 | Palmoplantar keratoderma, nonepidermolytic, | 600962 |
| KRT10 | 89.5 | 0.99 | 0.9 | Epidermolytic hyperkeratosis, | 113800 |
| KRT10 | 89.5 | 0.99 | 0.9 | Ichthyosis with confetti, | 609165 |
| KRT10 | 89.5 | 0.99 | 0.9 | Ichthyosis, cyclic, with epidermolytic hyperkeratosis, | 607602 |
| KRT12 | 98.7 | 0.97 | 0.93 | Meesmann corneal dystrophy, | 122100 |
| KRT13 | 103.3 | 1 | 0.99 | White sponge nevus 2 | 615785 |
| KRT14 | 47.9 | 0.87 | 0.78 | Dermatopathia pigmentosa reticularis, | 125595 |
| KRT14 | 47.9 | 0.87 | 0.78 | Epidermolysis bullosa simplex, Dowling-Meara type, | 131760 |
| KRT14 | 47.9 | 0.87 | 0.78 | Epidermolysis bullosa simplex, Koebner type, | 131900 |
| KRT14 | 47.9 | 0.87 | 0.78 | Epidermolysis bullosa simplex, recessive 1 | 601001 |
| KRT14 | 47.9 | 0.87 | 0.78 | Epidermolysis bullosa simplex, Weber-Cockayne type, | 131800 |
| KRT14 | 47.9 | 0.87 | 0.78 | Naegeli-Franceschetti-Jadassohn syndrome, | 161000 |
| KRT16 | 34.1 | 0.73 | 0.53 | Pachyonychia congenita 1 | 167200 |
| KRT16 | 34.1 | 0.73 | 0.53 | Palmoplantar keratoderma, nonepidermolytic, focal, | 613000 |
| KRT17 | 18.5 | 0.5 | 0.34 | Pachyonychia congenita 2 | 167210 |
| KRT17 | 18.5 | 0.5 | 0.34 | Steatocystoma multiplex, | 184500 |
| KRT18 | 27.9 | 0.64 | 0.6 | Cirrhosis, cryptogenic, | 215600 |
| KRT18 | 27.9 | 0.64 | 0.6 | {Cirrhosis, noncryptogenic, susceptibility to}, | 215600 |
| KRT2 | 107.4 | 0.98 | 0.97 | Ichthyosis bullosa of Siemens, | 146800 |
| KRT25 | 127.7 | 1 | 1 | Woolly hair, autosomal recessive 3 | 616760 |
| KRT3 | 83.2 | 1 | 0.99 | Meesmann corneal dystrophy, | 122100 |
| KRT4 | 101.7 | 1 | 1 | White sponge nevus 1 | 193900 |
| KRT5 | 103.1 | 1 | 1 | Dowling-Degos disease 1 | 179850 |
| KRT5 | 103.1 | 1 | 1 | Epidermolysis bullosa simplex, Dowling-Meara type, | 131760 |
| KRT5 | 103.1 | 1 | 1 | Epidermolysis bullosa simplex, Koebner type, | 131900 |
| KRT5 | 103.1 | 1 | 1 | Epidermolysis bullosa simplex, recessive 1 | 601001 |
| KRT5 | 103.1 | 1 | 1 | Epidermolysis bullosa simplex, Weber-Cockayne type, | 131800 |
| KRT5 | 103.1 | 1 | 1 | Epidermolysis bullosa simplex-MP, | 131960 |
| KRT5 | 103.1 | 1 | 1 | Epidermylysis bullosa simplex-MCR, | 609352 |
| KRT6A | 137.9 | 0.9 | 0.83 | Pachyonychia congenita 3 | 615726 |
| KRT6B | 136.6 | 0.88 | 0.85 | Pachyonychia congenita 4 | 615728 |
| KRT6C | 129.4 | 0.84 | 0.77 | Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, | 615735 |
| KRT74 | 118.7 | 1 | 1 | Woolly hair, autosomal dominant, | 194300 |
| KRT74 | 118.7 | 1 | 1 | ?Ectodermal dysplasia 7 hair/nail type, | 614929 |
| KRT74 | 118.7 | 1 | 1 | ?Hypotrichosis 3 | 613981 |
| KRT8 | 31.5 | 0.89 | 0.67 | Cirrhosis, cryptogenic, | 215600 |
| KRT8 | 31.5 | 0.89 | 0.67 | {Cirrhosis, noncryptogenic, susceptibility to}, | 215600 |
| KRT81 | 81.1 | 1 | 0.92 | Monilethrix, | 158000 |
| KRT85 | 90.4 | 0.99 | 0.94 | Ectodermal dysplasia 4 hair/nail type, | 602032 |
| KRT86 | 88.2 | 1 | 0.93 | Monilethrix, | 158000 |
| KRT9 | 67.1 | 0.95 | 0.93 | Palmoplantar keratoderma, epidermolytic, | 144200 |
| L1CAM | 153.4 | 1 | 0.99 | Corpus callosum, partial agenesis of, | 304100 |
| L1CAM | 153.4 | 1 | 0.99 | CRASH syndrome, | 303350 |
| L1CAM | 153.4 | 1 | 0.99 | Hydrocephalus due to aqueductal stenosis, | 307000 |
| L1CAM | 153.4 | 1 | 0.99 | Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, | 307000 |
| L1CAM | 153.4 | 1 | 0.99 | Hydrocephalus with Hirschsprung disease, | 307000 |
| L1CAM | 153.4 | 1 | 0.99 | MASA syndrome, | 303350 |
| L2HGDH | 116.2 | 0.97 | 0.94 | L-2-hydroxyglutaric aciduria, | 236792 |
| LAMA1 | 124.1 | 1 | 0.99 | Poretti-Boltshauser syndrome, | 615960 |
| LAMA2 | 134.3 | 0.99 | 0.99 | Muscular dystrophy, congenital merosin-deficient, | 607855 |
| LAMA2 | 134.3 | 0.99 | 0.99 | Muscular dystrophy, congenital, due to partial LAMA2 deficiency, | 607855 |
| LAMA3 | 134.4 | 0.99 | 0.98 | Epidermolysis bullosa, generalized atrophic benign, | 226650 |
| LAMA3 | 134.4 | 0.99 | 0.98 | Epidermolysis bullosa, junctional, Herlitz type, | 226700 |
| LAMA3 | 134.4 | 0.99 | 0.98 | Laryngoonychocutaneous syndrome, | 245660 |
| LAMA4 | 121.3 | 1 | 0.99 | Cardiomyopathy, dilated, 1JJ, | 615235 |
| LAMB1 | 150.6 | 1 | 0.98 | Lissencephaly 5 | 615191 |
| LAMB2 | 162.4 | 0.99 | 0.98 | Nephrotic syndrome, type 5 with or without ocular abnormalities, | 614199 |
| LAMB2 | 162.4 | 0.99 | 0.98 | Pierson syndrome, | 609049 |
| LAMB3 | 105.8 | 1 | 0.98 | Amelogenesis imperfecta, type IA, | 104530 |
| LAMB3 | 105.8 | 1 | 0.98 | Epidermolysis bullosa, junctional, Herlitz type, | 226700 |
| LAMB3 | 105.8 | 1 | 0.98 | Epidermolysis bullosa, junctional, non-Herlitz type, | 226650 |
| LAMC2 | 105.1 | 0.99 | 0.96 | Epidermolysis bullosa, junctional, Herlitz type, | 226700 |
| LAMC2 | 105.1 | 0.99 | 0.96 | Epidermolysis bullosa, junctional, non-Herlitz type, | 226650 |
| LAMC3 | 101.4 | 0.97 | 0.93 | Cortical malformations, occipital, | 614115 |
| LAMP2 | 143.8 | 0.92 | 0.92 | Danon disease, | 300257 |
| LAMTOR2 | 149.8 | 1 | 1 | Immunodeficiency due to defect in MAPBP-interacting protein, | 610798 |
| LARGE | 113.7 | 1 | 0.98 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 | 613154 |
| LARGE | 113.7 | 1 | 0.98 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 | 608840 |
| LARP7 | 46 | 0.79 | 0.59 | Alazami syndrome, | 615071 |
| LARS2 | 119.8 | 1 | 1 | Perrault syndrome 4 | 615300 |
| LARS2 | 119.8 | 1 | 1 | ?Hydrops, lactic acidosis, and sideroblastic anemia, | 617021 |
| LAS1L | 110.5 | 1 | 0.99 | Wilson-Turner syndrome, | 309585 |
| LBR | 72.7 | 0.93 | 0.77 | Greenberg skeletal dysplasia, | 215140 |
| LBR | 72.7 | 0.93 | 0.77 | Pelger-Huet anomaly, | 169400 |
| LBR | 72.7 | 0.93 | 0.77 | ?Reynolds syndrome, | 613471 |
| LCA5 | 112.2 | 0.99 | 0.95 | Leber congenital amaurosis 5 | 604537 |
| LCAT | 131.8 | 1 | 0.88 | Fish-eye disease, | 136120 |
| LCAT | 131.8 | 1 | 0.88 | Norum disease, | 245900 |
| LCT | 111 | 0.99 | 0.96 | Lactase deficiency, congenital, | 223000 |
| LDB3 | 106.8 | 0.94 | 0.93 | Cardiomyopathy, dilated, 1C, with or without LVNC, | 601493 |
| LDB3 | 106.8 | 0.94 | 0.93 | Cardiomyopathy, hypertrophic, 24 | 601493 |
| LDB3 | 106.8 | 0.94 | 0.93 | Left ventricular noncompaction 3 | 601493 |
| LDB3 | 106.8 | 0.94 | 0.93 | Myopathy, myofibrillar, 4 | 609452 |
| LDHA | 48.5 | 0.91 | 0.84 | Glycogen storage disease XI, | 612933 |
| LDLR | 147.6 | 0.97 | 0.95 | Hypercholesterolemia, familial, | 143890 |
| LDLR | 147.6 | 0.97 | 0.95 | LDL cholesterol level QTL2, | 143890 |
| LDLRAP1 | 130.3 | 1 | 0.9 | Hypercholesterolemia, familial, autosomal recessive, | 603813 |
| LEF1 | 103.9 | 1 | 1 | Sebaceous tumors, somatic, | 153245 |
| LEFTY2 | 40.2 | 0.85 | 0.71 | Left-right axis malformations, | 601877 |
| LEMD2 | 60.4 | 0.95 | 0.8 | Cataract 46 juvenile-onset, | 212500 |
| LEMD3 | 87.9 | 0.95 | 0.9 | Buschke-Ollendorff syndrome, | 166700 |
| LEMD3 | 87.9 | 0.95 | 0.9 | Melorheostosis with osteopoikilosis, | 155950 |
| LEMD3 | 87.9 | 0.95 | 0.9 | Osteopoikilosis, | 166700 |
| LEP | 161.7 | 1 | 0.96 | Obesity, morbid, due to leptin deficiency, | 614962 |
| LEPR | 103.7 | 0.93 | 0.89 | Obesity, morbid, due to leptin receptor deficiency, | 614963 |
| LEPRE1 | 118 | 1 | 1 | Osteogenesis imperfecta, type VIII, | 610915 |
| LEPREL1 | 89.1 | 0.99 | 0.91 | Myopia, high, with cataract and vitreoretinal degeneration, | 614292 |
| LGI1 | 177.4 | 1 | 0.92 | Epilepsy, familial temporal lobe, 1 | 600512 |
| LHB | 26.2 | 0.99 | 0.74 | Hypogonadotropic hypogonadism 23 with or without anosmia, | 228300 |
| LHCGR | 141.9 | 0.92 | 0.92 | Leydig cell adenoma, somatic, with precocious puberty, | 176410 |
| LHCGR | 141.9 | 0.92 | 0.92 | Leydig cell hypoplasia with hypergonadotropic hypogonadism, | 238320 |
| LHCGR | 141.9 | 0.92 | 0.92 | Leydig cell hypoplasia with pseudohermaphroditism, | 238320 |
| LHCGR | 141.9 | 0.92 | 0.92 | Luteinizing hormone resistance, female, | 238320 |
| LHCGR | 141.9 | 0.92 | 0.92 | Precocious puberty, male, | 176410 |
| LHFPL5 | 215.9 | 1 | 1 | Deafness, autosomal recessive 67 | 610265 |
| LHX3 | 88.2 | 1 | 0.96 | Pituitary hormone deficiency, combined, 3 | 221750 |
| LHX4 | 109.6 | 1 | 1 | Pituitary hormone deficiency, combined, 4 | 262700 |
| LIAS | 135.1 | 1 | 0.97 | Hyperglycinemia, lactic acidosis, and seizures, | 614462 |
| LIFR | 112.9 | 0.96 | 0.89 | Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, | 601559 |
| LIG1 | 81.7 | 1 | 0.97 | DNA ligase I deficiency | 601559 |
| LIG4 | 150.3 | 1 | 1 | LIG4 syndrome, | 606593 |
| LIG4 | 150.3 | 1 | 1 | {Multiple myeloma, resistance to}, | 254500 |
| LIM2 | 89.2 | 1 | 0.98 | Cataract 19 multiple types, | 615277 |
| LIMS2 | 99.5 | 0.93 | 0.92 | Muscular dystrophy, limb-girdle, type 2W, | 616827 |
| LINS | 119 | 1 | 0.97 | Mental retardation, autosomal recessive 27 | 614340 |
| LIPA | 104.1 | 0.95 | 0.93 | Cholesteryl ester storage disease, | 278000 |
| LIPA | 104.1 | 0.95 | 0.93 | Wolman disease, | 278000 |
| LIPC | 101.3 | 1 | 0.98 | Hepatic lipase deficiency, | 614025 |
| LIPC | 101.3 | 1 | 0.98 | [High density lipoprotein cholesterol level QTL 12], | 612797 |
| LIPC | 101.3 | 1 | 0.98 | {Diabetes mellitus, noninsulin-dependent}, | 125853 |
| LIPE | 93.5 | 0.98 | 0.97 | Lipodystrophy, familial partial, type 6 | 615980 |
| LIPH | 111.6 | 1 | 1 | Hypotrichosis 7 | 604379 |
| LIPH | 111.6 | 1 | 1 | Woolly hair, autosomal recessive 2 with or without hypotrichosis, | 604379 |
| LIPN | 120.4 | 1 | 0.92 | Ichthyosis, congenital, autosomal recessive 8 | 613943 |
| LIPT1 | 218.4 | 1 | 1 | Lipoyltransferase 1 deficiency, | 616299 |
| LITAF | 100.4 | 0.97 | 0.9 | Charcot-Marie-Tooth disease, type 1C, | 601098 |
| LMAN1 | 116.1 | 0.96 | 0.87 | Combined factor V and VIII deficiency, | 227300 |
| LMBR1 | 90.2 | 0.98 | 0.92 | Acheiropody, | 200500 |
| LMBR1 | 90.2 | 0.98 | 0.92 | Hypoplastic or aplastic tibia with polydactyly, | 188740 |
| LMBR1 | 90.2 | 0.98 | 0.92 | Laurin-Sandrow syndrome, | 135750 |
| LMBR1 | 90.2 | 0.98 | 0.92 | Polydactyly, preaxial type II, | 174500 |
| LMBR1 | 90.2 | 0.98 | 0.92 | Syndactyly, type IV, | 186200 |
| LMBR1 | 90.2 | 0.98 | 0.92 | Triphalangeal thumb, type I, | 174500 |
| LMBR1 | 90.2 | 0.98 | 0.92 | Triphalangeal thumb-polysyndactyly syndrome, | 174500 |
| LMBRD1 | 65.8 | 0.89 | 0.81 | Methylmalonic aciduria and homocystinuria, cblF type, | 277380 |
| LMF1 | 125.2 | 1 | 0.98 | Lipase deficiency, combined, | 246650 |
| LMNA | 69.2 | 0.91 | 0.86 | Cardiomyopathy, dilated, 1A, | 115200 |
| LMNA | 69.2 | 0.91 | 0.86 | Charcot-Marie-Tooth disease, type 2B1, | 605588 |
| LMNA | 69.2 | 0.91 | 0.86 | Emery-Dreifuss muscular dystrophy 2 AD, | 181350 |
| LMNA | 69.2 | 0.91 | 0.86 | Emery-Dreifuss muscular dystrophy 3 AR, | 616516 |
| LMNA | 69.2 | 0.91 | 0.86 | Heart-hand syndrome, Slovenian type, | 610140 |
| LMNA | 69.2 | 0.91 | 0.86 | Hutchinson-Gilford progeria, | 176670 |
| LMNA | 69.2 | 0.91 | 0.86 | Lipodystrophy, familial partial, 2 | 151660 |
| LMNA | 69.2 | 0.91 | 0.86 | Malouf syndrome, | 212112 |
| LMNA | 69.2 | 0.91 | 0.86 | Mandibuloacral dysplasia, | 248370 |
| LMNA | 69.2 | 0.91 | 0.86 | Muscular dystrophy, congenital, | 613205 |
| LMNA | 69.2 | 0.91 | 0.86 | Muscular dystrophy, limb-girdle, type 1B, | 159001 |
| LMNA | 69.2 | 0.91 | 0.86 | Restrictive dermopathy, lethal, | 275210 |
| LMNB1 | 111 | 1 | 0.97 | Leukodystrophy, adult-onset, autosomal dominant, | 169500 |
| LMOD3 | 130.1 | 1 | 0.99 | Nemaline myopathy 10 | 616165 |
| LMX1B | 99.4 | 1 | 0.88 | Nail-patella syndrome, | 161200 |
| LONP1 | 131.6 | 0.96 | 0.9 | CODAS syndrome, | 600373 |
| LOR | 14.2 | 0.8 | 0.25 | Vohwinkel syndrome with ichthyosis, | 604117 |
| LOXHD1 | 114.7 | 1 | 0.98 | Deafness, autosomal recessive 77 | 613079 |
| LPAR6 | 97.4 | 0.96 | 0.93 | Hypotrichosis 8 | 278150 |
| LPAR6 | 97.4 | 0.96 | 0.93 | Woolly hair, autosomal recessive 1 with or without hypotrichosis, | 278150 |
| LPIN1 | 118.6 | 0.98 | 0.9 | Myoglobinuria, acute recurrent, autosomal recessive, | 268200 |
| LPIN2 | 109 | 1 | 1 | Majeed syndrome, | 609628 |
| LPL | 137.8 | 1 | 0.99 | Combined hyperlipidemia, familial, | 144250 |
| LPL | 137.8 | 1 | 0.99 | Lipoprotein lipase deficiency, | 238600 |
| LPL | 137.8 | 1 | 0.99 | [High density lipoprotein cholesterol level QTL 11] | 238600 |
| LPP | 112.7 | 1 | 1 | Leukemia, acute myeloid, | 601626 |
| LPP | 112.7 | 1 | 1 | Lipoma | 601626 |
| LRAT | 239.2 | 1 | 1 | Leber congenital amaurosis 14 | 613341 |
| LRAT | 239.2 | 1 | 1 | Retinal dystrophy, early-onset severe, | 613341 |
| LRAT | 239.2 | 1 | 1 | Retinitis pigmentosa, juvenile, | 613341 |
| LRBA | 120.2 | 0.98 | 0.95 | Immunodeficiency, common variable, 8 with autoimmunity, | 614700 |
| LRIG2 | 138.6 | 0.97 | 0.97 | Urofacial syndrome 2 | 615112 |
| LRIT3 | 138.9 | 0.93 | 0.92 | Night blindness, congenital stationary (complete), 1F, autosomal recessive, | 615058 |
| LRP2 | 154.4 | 1 | 0.99 | Donnai-Barrow syndrome, | 222448 |
| LRP4 | 141.2 | 0.98 | 0.98 | Cenani-Lenz syndactyly syndrome, | 212780 |
| LRP4 | 141.2 | 0.98 | 0.98 | Sclerosteosis 2 | 614305 |
| LRP4 | 141.2 | 0.98 | 0.98 | ?Myasthenic syndrome, congenital, 17 | 616304 |
| LRP5 | 155 | 0.99 | 0.98 | Exudative vitreoretinopathy 4 | 601813 |
| LRP5 | 155 | 0.99 | 0.98 | Hyperostosis, endosteal, | 144750 |
| LRP5 | 155 | 0.99 | 0.98 | Osteopetrosis, autosomal dominant 1 | 607634 |
| LRP5 | 155 | 0.99 | 0.98 | Osteoporosis-pseudoglioma syndrome, | 259770 |
| LRP5 | 155 | 0.99 | 0.98 | Osteosclerosis, | 144750 |
| LRP5 | 155 | 0.99 | 0.98 | van Buchem disease, type 2 | 607636 |
| LRP5 | 155 | 0.99 | 0.98 | [Bone mineral density variability 1], | 601884 |
| LRP5 | 155 | 0.99 | 0.98 | {Osteoporosis}, | 166710 |
| LRP6 | 136.3 | 1 | 0.99 | Tooth agenesis, selective, 7 | 616724 |
| LRP6 | 136.3 | 1 | 0.99 | {Coronary artery disease, autosomal dominant, 2}, | 610947 |
| LRPAP1 | 121.1 | 0.97 | 0.9 | Myopia 23 autosomal recessive, | 615431 |
| LRPPRC | 113 | 0.99 | 0.95 | Leigh syndrome, French-Canadian type, | 220111 |
| LRRC6 | 152.6 | 0.95 | 0.89 | Ciliary dyskinesia, primary, 19 | 614935 |
| LRRC8A | 222.9 | 1 | 0.99 | Agammaglobulinemia 5 | 613506 |
| LRSAM1 | 123 | 0.99 | 0.98 | Charcot-Marie-Toothe disease, axonal, type 2P, | 614436 |
| LRTOMT | 108.8 | 0.93 | 0.91 | Deafness, autosomal recessive 63 | 611451 |
| LSS | 101.4 | 1 | 0.98 | Cataract 44 | 616509 |
| LTBP2 | 89 | 0.99 | 0.97 | Glaucoma 3 primary congenital, D, | 613086 |
| LTBP2 | 89 | 0.99 | 0.97 | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, | 613086 |
| LTBP2 | 89 | 0.99 | 0.97 | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, | 251750 |
| LTBP2 | 89 | 0.99 | 0.97 | Weill-Marchesani syndrome 3 recessive, | 614819 |
| LTBP3 | 99.3 | 0.97 | 0.95 | Dental anomalies and short stature, | 601216 |
| LTBP4 | 96.2 | 0.99 | 0.94 | Cutis laxa, autosomal recessive, type IC, | 613177 |
| LYRM7 | 36.1 | 0.82 | 0.57 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 |
| LYST | 122.8 | 0.98 | 0.92 | Chediak-Higashi syndrome, | 214500 |
| LYZ | 156.8 | 1 | 1 | Amyloidosis, renal, | 105200 |
| LZTFL1 | 111.6 | 0.99 | 0.92 | Bardet-Biedl syndrome 17 | 615994 |
| LZTR1 | 124.5 | 1 | 0.97 | Noonan syndrome 10 | 616564 |
| LZTR1 | 124.5 | 1 | 0.97 | {Schwannomatosis-2, susceptibility to}, | 615670 |
| LZTS1 | 78.8 | 1 | 1 | Esophageal squamous cell carcinoma, | 133239 |
| MAB21L2 | 206.1 | 1 | 1 | Microphthalmia, syndromic 14 | 615877 |
| MAD1L1 | 87 | 1 | 0.93 | Lymphoma, somatic | 615877 |
| MAD1L1 | 87 | 1 | 0.93 | Prostate cancer, somatic, | 176807 |
| MAF | 48.5 | 0.74 | 0.69 | Ayme-Gripp syndrome, | 601088 |
| MAF | 48.5 | 0.74 | 0.69 | Cataract 21 multiple types, | 610202 |
| MAFB | 95.6 | 1 | 0.98 | Duane retraction syndrome 3 | 617041 |
| MAFB | 95.6 | 1 | 0.98 | Multicentric carpotarsal osteolysis syndrome, | 166300 |
| MAG | 121.4 | 1 | 0.99 | Spastic paraplegia 75 autosomal recessive, | 616680 |
| MAGED2 | 90 | 1 | 0.99 | Bartter syndrome, type 5,antenatal,transient, | 300971 |
| MAGEL2 | 115.5 | 1 | 1 | Schaaf-Yang syndrome, | 615547 |
| MAGT1 | 136.6 | 0.98 | 0.98 | Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, | 300853 |
| MAK | 134.3 | 0.93 | 0.93 | Retinitis pigmentosa 62 | 614181 |
| MALT1 | 125.3 | 0.9 | 0.83 | Immunodeficiency 12 | 615468 |
| MAML2 | 110.6 | 1 | 1 | Mucoepidermoid salivary gland carcinoma | 615468 |
| MAMLD1 | 144.7 | 1 | 0.99 | Hypospadias 2 X-linked, | 300758 |
| MAN1B1 | 128.5 | 1 | 0.99 | Mental retardation, autosomal recessive 15 | 614202 |
| MAN2B1 | 108 | 0.98 | 0.94 | Mannosidosis, alpha-, types I and II, | 248500 |
| MANBA | 112.5 | 1 | 0.93 | Mannosidosis, beta, | 248510 |
| MAOA | 148 | 1 | 1 | Brunner syndrome, | 300615 |
| MAOA | 148 | 1 | 1 | {Antisocial behavior}, | 300615 |
| MAP2K1 | 86.9 | 1 | 0.92 | Cardiofaciocutaneous syndrome 3 | 615279 |
| MAP2K2 | 92.2 | 0.94 | 0.88 | Cardiofaciocutaneous syndrome 4 | 615280 |
| MAP3K1 | 143.4 | 0.92 | 0.88 | 46XY sex reversal 6 | 613762 |
| MAP3K8 | 140.2 | 1 | 1 | Lung cancer, somatic, | 211980 |
| MAPRE2 | 175.8 | 1 | 0.99 | Symmetric circumferential skin creases, congenital, 2 | 616734 |
| MAPT | 55.9 | 0.99 | 0.87 | Dementia, frontotemporal, with or without parkinsonism, | 600274 |
| MAPT | 55.9 | 0.99 | 0.87 | Pick disease, | 172700 |
| MAPT | 55.9 | 0.99 | 0.87 | Supranuclear palsy, progressive atypical, | 260540 |
| MAPT | 55.9 | 0.99 | 0.87 | Supranuclear palsy, progressive, | 601104 |
| MAPT | 55.9 | 0.99 | 0.87 | {Parkinson disease, susceptibility to}, | 168600 |
| MARS | 112.5 | 1 | 0.96 | Charcot-Marie-Tooth disease, axonal, type 2U, | 616280 |
| MARS | 112.5 | 1 | 0.96 | Interstitial lung and liver disease, | 615486 |
| MARS2 | 128.6 | 1 | 1 | Spastic ataxia 3 autosomal recessive, | 611390 |
| MARS2 | 128.6 | 1 | 1 | ?Combined oxidative phosphorylation deficiency 25 | 616430 |
| MARVELD2 | 142.2 | 0.94 | 0.92 | Deafness, autosomal recessive 49 | 610153 |
| MASP1 | 123.7 | 1 | 0.99 | 3MC syndrome 1 | 257920 |
| MASP2 | 125 | 0.99 | 0.95 | MASP2 deficiency, | 613791 |
| MAT1A | 141.9 | 0.97 | 0.94 | Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III | 613791 |
| MAT1A | 141.9 | 0.97 | 0.94 | deficiency, | 250850 |
| MAT1A | 141.9 | 0.97 | 0.94 | Methionine adenosyltransferase deficiency, autosomal recessive, | 250850 |
| MATN3 | 100.1 | 0.84 | 0.84 | Epiphyseal dysplasia, multiple, 5 | 607078 |
| MATN3 | 100.1 | 0.84 | 0.84 | Spondyloepimetaphyseal dysplasia, | 608728 |
| MATN3 | 100.1 | 0.84 | 0.84 | {Osteoarthritis susceptibility 2}, | 140600 |
| MATR3 | 74.3 | 0.95 | 0.86 | Amyotrophic lateral sclerosis 21 | 606070 |
| MBD5 | 160.9 | 1 | 1 | Mental retardation, autosomal dominant 1 | 156200 |
| MBTPS2 | 147.4 | 1 | 0.98 | IFAP syndrome with or without BRESHECK syndrome, | 308205 |
| MBTPS2 | 147.4 | 1 | 0.98 | Keratosis follicularis spinulosa decalvans, X-linked, | 308800 |
| MBTPS2 | 147.4 | 1 | 0.98 | ?Olmsted syndrome, X-linked, | 300918 |
| MC2R | 165.9 | 1 | 0.98 | Glucocorticoid deficiency, due to ACTH unresponsiveness, | 202200 |
| MC4R | 263.3 | 1 | 1 | Obesity, autosomal dominant, | 601665 |
| MCC | 125.4 | 0.99 | 0.98 | Colorectal cancer, somatic, | 114500 |
| MCCC1 | 131.2 | 1 | 0.99 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency, | 210200 |
| MCCC2 | 116.7 | 0.99 | 0.97 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency, | 210210 |
| MCEE | 89 | 1 | 1 | Methylmalonyl-CoA epimerase deficiency, | 251120 |
| MCFD2 | 90.9 | 1 | 1 | Factor V and factor VIII, combined deficiency of, | 613625 |
| MCM4 | 145.9 | 1 | 0.99 | Natural killer cell and glucocorticoid deficiency with DNA repair defect, | 609981 |
| MCM6 | 150.2 | 1 | 1 | Lactase persistence/nonpersistence, | 223100 |
| MCM9 | 128.7 | 1 | 1 | Ovarian dysgenesis 4 | 616185 |
| MCOLN1 | 129.3 | 0.99 | 0.96 | Mucolipidosis IV, | 252650 |
| MCPH1 | 123.8 | 0.99 | 0.95 | Microcephaly 1 primary, autosomal recessive, | 251200 |
| MECOM | 133.9 | 0.99 | 0.97 | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 616738 |
| MECP2 | 100.5 | 1 | 0.97 | Encephalopathy, neonatal severe, | 300673 |
| MECP2 | 100.5 | 1 | 0.97 | Mental retardation, X-linked syndromic, Lubs type, | 300260 |
| MECP2 | 100.5 | 1 | 0.97 | Mental retardation, X-linked, syndromic 13 | 300055 |
| MECP2 | 100.5 | 1 | 0.97 | Rett syndrome, | 312750 |
| MECP2 | 100.5 | 1 | 0.97 | Rett syndrome, atypical, | 312750 |
| MECP2 | 100.5 | 1 | 0.97 | Rett syndrome, preserved speech variant, | 312750 |
| MECP2 | 100.5 | 1 | 0.97 | {Autism susceptibility, X-linked 3}, | 300496 |
| MED12 | 118.1 | 1 | 0.97 | Lujan-Fryns syndrome, | 309520 |
| MED12 | 118.1 | 1 | 0.97 | Ohdo syndrome, X-linked, | 300895 |
| MED12 | 118.1 | 1 | 0.97 | Opitz-Kaveggia syndrome, | 305450 |
| MED13L | 118.3 | 0.99 | 0.97 | Mental retardation and distinctive facial features with or without cardiac defects, | 616789 |
| MED13L | 118.3 | 0.99 | 0.97 | Transposition of the great arteries, dextro-looped 1 | 608808 |
| MED17 | 116.5 | 0.98 | 0.93 | Microcephaly, postnatal progressive, with seizures and brain atrophy, | 613668 |
| MED23 | 116.3 | 0.99 | 0.97 | Mental retardation, autosomal recessive 18 | 614249 |
| MED25 | 90.7 | 0.98 | 0.94 | Basel-Vanagait-Smirin-Yosef syndrome, | 616449 |
| MED25 | 90.7 | 0.98 | 0.94 | ?Charcot-Marie-Tooth disease, type 2B2, | 605589 |
| MEF2C | 121.4 | 0.91 | 0.88 | Chromosome 5q14,3 deletion syndrome, | 613443 |
| MEF2C | 121.4 | 0.91 | 0.88 | Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, | 613443 |
| MEFV | 104.9 | 0.94 | 0.89 | Familial Mediterranean fever, AD, | 134610 |
| MEFV | 104.9 | 0.94 | 0.89 | Familial Mediterranean fever, AR, | 249100 |
| MEGF10 | 133.4 | 1 | 1 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, | 614399 |
| MEGF10 | 133.4 | 1 | 1 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, | 614399 |
| MEGF8 | 103.7 | 0.99 | 0.96 | Carpenter syndrome 2 | 614976 |
| MEN1 | 103.7 | 0.99 | 0.92 | Adrenal adenoma, somatic | 614976 |
| MEN1 | 103.7 | 0.99 | 0.92 | Angiofibroma, somatic | 614976 |
| MEN1 | 103.7 | 0.99 | 0.92 | Carcinoid tumor of lung | 614976 |
| MEN1 | 103.7 | 0.99 | 0.92 | Lipoma, somatic | 614976 |
| MEN1 | 103.7 | 0.99 | 0.92 | Multiple endocrine neoplasia 1 | 131100 |
| MEN1 | 103.7 | 0.99 | 0.92 | Parathyroid adenoma, somatic | 131100 |
| MEOX1 | 82.2 | 0.95 | 0.92 | Klippel-Feil syndrome 2 | 214300 |
| MERTK | 151.4 | 1 | 0.98 | Retinitis pigmentosa 38 | 613862 |
| MESP2 | 61.2 | 0.89 | 0.81 | Spondylocostal dysostosis 2 autosomal recessive, | 608681 |
| MET | 169.1 | 1 | 0.99 | Hepatocellular carcinoma, childhood type, somatic, | 114550 |
| MET | 169.1 | 1 | 0.99 | Renal cell carcinoma, papillary, 1 familial and somatic, | 605074 |
| MET | 169.1 | 1 | 0.99 | ?Deafness, autosomal recessive 97 | 616705 |
| MET | 169.1 | 1 | 0.99 | {Osteofibrous dysplasia,susceptibility to}, | 607278 |
| METTL23 | 119.1 | 1 | 1 | Mental retardation, autosomal recessive 44 | 615942 |
| MFAP5 | 107.5 | 1 | 0.99 | Aortic aneurysm, familial thoracic 9 | 616166 |
| MFN2 | 120.8 | 1 | 0.99 | Charcot-Marie-Tooth disease, type 2A2, | 609260 |
| MFN2 | 120.8 | 1 | 0.99 | Hereditary motor and sensory neuropathy VIA, | 601152 |
| MFRP | 118.7 | 1 | 1 | Microphthalmia, isolated 5 | 611040 |
| MFRP | 118.7 | 1 | 1 | Nanophthalmos 2 | 609549 |
| MFSD2A | 109.3 | 1 | 1 | Microcephaly 15 primary, autosomal recessive, | 616486 |
| MFSD8 | 111.8 | 1 | 0.99 | Ceroid lipofuscinosis, neuronal, 7 | 610951 |
| MFSD8 | 111.8 | 1 | 0.99 | Macular dystrophy with central cone involvement, | 616170 |
| MGAT2 | 117 | 1 | 0.99 | Congenital disorder of glycosylation, type IIa, | 212066 |
| MGME1 | 161.5 | 1 | 0.99 | Mitochondrial DNA depletion syndrome 11 | 615084 |
| MGP | 139.7 | 0.91 | 0.91 | Keutel syndrome, | 245150 |
| MIB1 | 131.7 | 1 | 0.98 | Left ventricular noncompaction 7 | 615092 |
| MICU1 | 109.5 | 0.96 | 0.92 | Myopathy with extrapyramidal signs, | 615673 |
| MID1 | 182.3 | 1 | 1 | Opitz GBBB syndrome, type I, | 300000 |
| MINPP1 | 137.6 | 0.99 | 0.96 | Thyroid carcinoma, follicular, | 188470 |
| MIP | 99.2 | 0.9 | 0.85 | Cataract 15 multiple types, | 615274 |
| MIP | 99.2 | 0.9 | 0.85 | MIR17HG NC NC NC Feingold syndrome 2 | 614326 |
| MIP | 99.2 | 0.9 | 0.85 | MIR184 NC NC NC EDICT syndrome, | 614303 |
| MIP | 99.2 | 0.9 | 0.85 | MIR96 NC NC NC Deafness, autosomal dominant 50 | 613074 |
| MITF | 128.3 | 1 | 1 | Tietz albinism-deafness syndrome, | 103500 |
| MITF | 128.3 | 1 | 1 | Waardenburg syndrome, type 2A, | 193510 |
| MITF | 128.3 | 1 | 1 | Waardenburg syndrome/ocular albinism, digenic, | 103470 |
| MITF | 128.3 | 1 | 1 | {Melanoma, cutaneous malignant, susceptibility to, 8}, | 614456 |
| MKKS | 185.3 | 0.89 | 0.89 | Bardet-Biedl syndrome 6 | 605231 |
| MKKS | 185.3 | 0.89 | 0.89 | McKusick-Kaufman syndrome, | 236700 |
| MKL1 | 97.5 | 0.96 | 0.88 | Megakaryoblastic leukemia, acute | 236700 |
| MKRN3 | 96.1 | 1 | 0.98 | Precocious puberty, central, 2 | 615346 |
| MKS1 | 87 | 0.99 | 0.97 | Bardet-Biedl syndrome 13 | 615990 |
| MKS1 | 87 | 0.99 | 0.97 | Meckel syndrome 1 | 249000 |
| MLC1 | 95.3 | 1 | 0.98 | Megalencephalic leukoencephalopathy with subcortical cysts, | 604004 |
| MLH1 | 147.8 | 1 | 0.99 | Colorectal cancer, hereditary nonpolyposis, type 2 | 609310 |
| MLH1 | 147.8 | 1 | 0.99 | Mismatch repair cancer syndrome, | 276300 |
| MLH1 | 147.8 | 1 | 0.99 | Muir-Torre syndrome, | 158320 |
| MLH3 | 143.8 | 1 | 0.99 | Colorectal cancer, hereditary nonpolyposis, type 7 | 614385 |
| MLH3 | 143.8 | 1 | 0.99 | Colorectal cancer, somatic, | 114500 |
| MLH3 | 143.8 | 1 | 0.99 | {Endometrial cancer, susceptibility to}, | 608089 |
| MLLT10 | 121.2 | 0.95 | 0.9 | Leukemia,acute myeloid, | 601626 |
| MLLT11 | 79.5 | 1 | 0.97 | Leukemia, acute myelomonocytic, somatic, | 607785 |
| MLPH | 85.8 | 1 | 0.98 | Griscelli syndrome, type 3 | 609227 |
| MLYCD | 68.7 | 0.92 | 0.89 | Malonyl-CoA decarboxylase deficiency, | 248360 |
| MMAA | 156.2 | 1 | 1 | Methylmalonic aciduria, vitamin B12-responsive, | 251100 |
| MMAB | 88.3 | 1 | 0.97 | Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB | 251100 |
| MMAB | 88.3 | 1 | 0.97 | complementation type, | 251110 |
| MMACHC | 159.5 | 1 | 1 | Methylmalonic aciduria and homocystinuria, cblC type, | 277400 |
| MMADHC | 58.5 | 0.82 | 0.64 | Homocystinuria, cblD type, variant 1 | 277410 |
| MMADHC | 58.5 | 0.82 | 0.64 | Methylmalonic aciduria and homocystinuria, cblD type, | 277410 |
| MMADHC | 58.5 | 0.82 | 0.64 | Methylmalonic aciduria, cblD type, variant 2 | 277410 |
| MME | 88.8 | 0.96 | 0.89 | Charcot-Marie-Tooth disease, axonal, type 2T, | 617017 |
| MME | 88.8 | 0.96 | 0.89 | ?Spinocerebellar ataxia 43 | 617018 |
| MMP1 | 147.3 | 1 | 0.97 | COPD, rate of decline of lung function in, | 606963 |
| MMP1 | 147.3 | 1 | 0.97 | {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, | 226600 |
| MMP13 | 114.2 | 0.92 | 0.91 | Metaphyseal anadysplasia 1 | 602111 |
| MMP13 | 114.2 | 0.92 | 0.91 | Spondyloepimetaphyseal dysplasia, Missouri type, | 602111 |
| MMP19 | 109.2 | 1 | 0.99 | Cavitary optic disc anomalies, | 611543 |
| MMP2 | 132 | 1 | 0.99 | Multicentric osteolysis, nodulosis, and arthropathy, | 259600 |
| MMP20 | 90.5 | 1 | 0.99 | Amelogenesis imperfecta, type IIA2, | 612529 |
| MMP21 | 97.7 | 0.89 | 0.83 | Heterotaxy, visceral, 7 autosomal, | 616749 |
| MMP9 | 97.7 | 1 | 0.98 | Metaphyseal anadysplasia 2 | 613073 |
| MN1 | 85.9 | 0.96 | 0.93 | Meningioma, | 607174 |
| MNX1 | 28.9 | 0.73 | 0.55 | Currarino syndrome, | 176450 |
| MOCOS | 152.8 | 1 | 0.98 | Xanthinuria, type II, | 603592 |
| MOCS1 | 76.9 | 0.93 | 0.88 | Molybdenum cofactor deficiency A, | 252150 |
| MOCS2 | 128.2 | 0.99 | 0.98 | Molybdenum cofactor deficiency B, | 252160 |
| MOGS | 94.6 | 0.99 | 0.98 | Congenital disorder of glycosylation, type IIb, | 606056 |
| MORC2 | 120.1 | 1 | 0.99 | Charcot-Marie-Tooth disease, axonal, type 2Z, | 616688 |
| MPC1 | 114 | 1 | 0.98 | Mitochondrial pyruvate carrier deficiency, | 614741 |
| MPDU1 | 112.5 | 1 | 0.98 | Congenital disorder of glycosylation, type If, | 609180 |
| MPDZ | 141.4 | 0.98 | 0.95 | Hydrocephalus, nonsyndromic, autosomal recessive 2 | 615219 |
| MPI | 108.9 | 1 | 0.99 | Congenital disorder of glycosylation, type Ib, | 602579 |
| MPL | 121.9 | 0.99 | 0.93 | Myelofibrosis with myeloid metaplasia, somatic, | 254450 |
| MPL | 121.9 | 0.99 | 0.93 | Thrombocythemia 2 | 601977 |
| MPL | 121.9 | 0.99 | 0.93 | Thrombocytopenia, congenital amegakaryocytic, | 604498 |
| MPLKIP | 73.8 | 0.98 | 0.74 | Trichothiodystrophy 4 nonphotosensitive, | 234050 |
| MPO | 134.2 | 1 | 0.99 | Myeloperoxidase deficiency, | 254600 |
| MPO | 134.2 | 1 | 0.99 | {Alzheimer disease, susceptibility to}, | 104300 |
| MPO | 134.2 | 1 | 0.99 | {Lung cancer, protection against, in smokers} | 104300 |
| MPV17 | 101.4 | 1 | 0.99 | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), | 256810 |
| MPZ | 92.9 | 1 | 0.96 | Charcot-Marie-Tooth disease, dominant intermediate D, | 607791 |
| MPZ | 92.9 | 1 | 0.96 | Charcot-Marie-Tooth disease, type 1B, | 118200 |
| MPZ | 92.9 | 1 | 0.96 | Charcot-Marie-Tooth disease, type 2I, | 607677 |
| MPZ | 92.9 | 1 | 0.96 | Charcot-Marie-Tooth disease, type 2J, | 607736 |
| MPZ | 92.9 | 1 | 0.96 | Dejerine-Sottas disease, | 145900 |
| MPZ | 92.9 | 1 | 0.96 | Neuropathy, congenital hypomyelinating, | 605253 |
| MPZ | 92.9 | 1 | 0.96 | Roussy-Levy syndrome, | 180800 |
| MRAP | 137.4 | 1 | 1 | Glucocorticoid deficiency 2 | 607398 |
| MRE11A | 48.8 | 0.98 | 0.85 | Ataxia-telangiectasia-like disorder, | 604391 |
| MRPL3 | 54.4 | 0.94 | 0.82 | Combined oxidative phosphorylation deficiency 9 | 614582 |
| MRPS16 | 117.4 | 1 | 1 | Combined oxidative phosphorylation deficiency 2 | 610498 |
| MRPS22 | 125.4 | 0.98 | 0.89 | Combined oxidative phosphorylation deficiency 5 | 611719 |
| MS4A1 | 106.7 | 1 | 0.93 | Immunodeficiency, common variable, 5 | 613495 |
| MSH2 | 91.8 | 0.95 | 0.87 | Colorectal cancer, hereditary nonpolyposis, type 1 | 120435 |
| MSH2 | 91.8 | 0.95 | 0.87 | Mismatch repair cancer syndrome, | 276300 |
| MSH2 | 91.8 | 0.95 | 0.87 | Muir-Torre syndrome, | 158320 |
| MSH3 | 101.5 | 0.99 | 0.94 | Endometrial carcinoma, somatic, | 608089 |
| MSH3 | 101.5 | 0.99 | 0.94 | Familial adenomatous polyposis 4,6171 | 608089 |
| MSH6 | 142.6 | 1 | 0.99 | Colorectal cancer, hereditary nonpolyposis, type 5 | 614350 |
| MSH6 | 142.6 | 1 | 0.99 | Endometrial cancer, familial, | 608089 |
| MSH6 | 142.6 | 1 | 0.99 | Mismatch repair cancer syndrome, | 276300 |
| MSMO1 | 35 | 0.85 | 0.7 | Microcephaly, congenital cataract, and psoriasiform dermatitis, | 616834 |
| MSR1 | 173.3 | 1 | 1 | Barrett esophagus/esophageal adenocarcinoma, | 614266 |
| MSR1 | 173.3 | 1 | 1 | Prostate cancer, hereditary, | 176807 |
| MSRB3 | 122.9 | 1 | 0.95 | Deafness, autosomal recessive 74 | 613718 |
| MSTN | 176.7 | 1 | 0.98 | Muscle hypertrophy, | 614160 |
| MSX1 | 56.2 | 0.96 | 0.91 | Ectodermal dysplasia 3 Witkop type, | 189500 |
| MSX1 | 56.2 | 0.96 | 0.91 | Orofacial cleft 5 | 608874 |
| MSX1 | 56.2 | 0.96 | 0.91 | Tooth agenesis, selective, 1 with or without orofacial cleft, | 106600 |
| MSX2 | 81 | 1 | 0.84 | Craniosynostosis, type 2 | 604757 |
| MSX2 | 81 | 1 | 0.84 | Parietal foramina 1 | 168500 |
| MSX2 | 81 | 1 | 0.84 | Parietal foramina with cleidocranial dysplasia, | 168550 |
| MTAP | 98.3 | 0.9 | 0.84 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma, | 112250 |
| MTFMT | 122.3 | 0.98 | 0.94 | Combined oxidative phosphorylation deficiency 15 | 614947 |
| MTHFR | 117.3 | 1 | 1 | Homocystinuria due to MTHFR deficiency, | 236250 |
| MTHFR | 117.3 | 1 | 1 | {Neural tube defects, susceptibility to}, | 601634 |
| MTHFR | 117.3 | 1 | 1 | {Schizophrenia, susceptibility to}, | 181500 |
| MTHFR | 117.3 | 1 | 1 | {Thromboembolism, susceptibility to}, | 188050 |
| MTHFR | 117.3 | 1 | 1 | {Vascular disease, susceptibility to} | 188050 |
| MTM1 | 115.2 | 0.99 | 0.97 | Myotubular myopathy, X-linked, | 310400 |
| MTMR2 | 107.3 | 1 | 1 | Charcot-Marie-Tooth disease, type 4B1, | 601382 |
| MTO1 | 140.9 | 0.89 | 0.85 | Combined oxidative phosphorylation deficiency 10 | 614702 |
| MTOR | 117.2 | 0.99 | 0.99 | Smith-Kingsmore syndrome, | 616638 |
| MTPAP | 108.7 | 0.97 | 0.84 | Ataxia, spastic, 4 | 613672 |
| MTR | 126.4 | 1 | 0.99 | Homocystinuria-megaloblastic anemia, cblG complementation type, | 250940 |
| MTR | 126.4 | 1 | 0.99 | {Neural tube defects, folate-sensitive, susceptibility to}, | 601634 |
| MTRR | 114.9 | 0.99 | 0.97 | Homocystinuria-megaloblastic anemia, cbl E type, | 236270 |
| MTRR | 114.9 | 0.99 | 0.97 | {Neural tube defects, folate-sensitive, susceptibility to}, | 601634 |
| MTTP | 122 | 1 | 0.96 | Abetalipoproteinemia, | 200100 |
| MTTP | 122 | 1 | 0.96 | {Metabolic syndrome, protection against}, | 605552 |
| MUC1 | 88.7 | 0.97 | 0.92 | Medullary cystic kidney disease 1 | 174000 |
| MUSK | 146.2 | 1 | 1 | Fetal akinesia deformation sequence, | 208150 |
| MUSK | 146.2 | 1 | 1 | Myasthenic syndrome, congenital, 9 associated with acetylcholine receptor deficiency, | 616325 |
| MUT | 105.1 | 0.97 | 0.91 | Methylmalonic aciduria, mut(0) type, | 251000 |
| MUTYH | 126.5 | 1 | 0.97 | Adenomas, multiple colorectal, | 608456 |
| MUTYH | 126.5 | 1 | 0.97 | Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, | 132600 |
| MUTYH | 126.5 | 1 | 0.97 | Gastric cancer, somatic, | 613659 |
| MVD | 95 | 1 | 1 | Porokeratosis 7 multiple types, | 614714 |
| MVK | 120.9 | 1 | 1 | Hyper-IgD syndrome, | 260920 |
| MVK | 120.9 | 1 | 1 | Mevalonic aciduria, | 610377 |
| MVK | 120.9 | 1 | 1 | Porokeratosis 3 multiple types, | 175900 |
| MXI1 | 97.9 | 0.88 | 0.83 | Neurofibrosarcoma | 175900 |
| MXI1 | 97.9 | 0.88 | 0.83 | {Prostate cancer, susceptibility to}, | 176807 |
| MYBPC1 | 145 | 1 | 0.99 | Arthrogryposis, distal, type 1B, | 614335 |
| MYBPC1 | 145 | 1 | 0.99 | Lethal congenital contracture syndrome 4 | 614915 |
| MYBPC3 | 118.7 | 0.99 | 0.94 | Cardiomyopathy, dilated, 1MM, | 615396 |
| MYBPC3 | 118.7 | 0.99 | 0.94 | Cardiomyopathy, hypertrophic, 4 | 115197 |
| MYBPC3 | 118.7 | 0.99 | 0.94 | Left ventricular noncompaction 10 | 615396 |
| MYC | 151.5 | 1 | 1 | Burkitt lymphoma, | 113970 |
| MYCN | 80.1 | 0.99 | 0.89 | Feingold syndrome, | 164280 |
| MYD88 | 145.1 | 1 | 0.98 | Macroglobulinemia, Waldenstrom, somatic, | 153600 |
| MYD88 | 145.1 | 1 | 0.98 | Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, | 612260 |
| MYF6 | 100.2 | 1 | 1 | Myopathy, centronuclear, 3 | 614408 |
| MYH11 | 109.2 | 1 | 0.98 | Aortic aneurysm, familial thoracic 4 | 132900 |
| MYH14 | 89.2 | 0.95 | 0.85 | Deafness, autosomal dominant 4A, | 600652 |
| MYH14 | 89.2 | 0.95 | 0.85 | ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, | 614369 |
| MYH2 | 111.7 | 0.98 | 0.96 | Proximal myopathy and ophthalmoplegia, | 605637 |
| MYH3 | 96.3 | 0.99 | 0.96 | Arthrogryposis, distal, type 2A, | 193700 |
| MYH3 | 96.3 | 0.99 | 0.96 | Arthrogryposis, distal, type 2B, | 601680 |
| MYH3 | 96.3 | 0.99 | 0.96 | Arthrogryposis, distal, type 8 | 178110 |
| MYH6 | 99.9 | 0.99 | 0.9 | Atrial septal defect 3 | 614089 |
| MYH6 | 99.9 | 0.99 | 0.9 | Cardiomyopathy, dilated, 1EE, | 613252 |
| MYH6 | 99.9 | 0.99 | 0.9 | Cardiomyopathy, hypertrophic, 14 | 613251 |
| MYH6 | 99.9 | 0.99 | 0.9 | {Sick sinus syndrome 3}, | 614090 |
| MYH7 | 98.1 | 0.97 | 0.94 | Cardiomyopathy, dilated, 1S, | 613426 |
| MYH7 | 98.1 | 0.97 | 0.94 | Cardiomyopathy, hypertrophic, 1 | 192600 |
| MYH7 | 98.1 | 0.97 | 0.94 | Left ventricular noncompaction 5 | 613426 |
| MYH7 | 98.1 | 0.97 | 0.94 | Liang distal myopathy, | 160500 |
| MYH7 | 98.1 | 0.97 | 0.94 | Myopathy, myosin storage, autosomal dominant, | 608358 |
| MYH7 | 98.1 | 0.97 | 0.94 | Myopathy, myosin storage, autosomal recessive, | 255160 |
| MYH7 | 98.1 | 0.97 | 0.94 | Scapuloperoneal syndrome, myopathic type, | 181430 |
| MYH8 | 115.7 | 0.99 | 0.98 | Carney complex variant, | 608837 |
| MYH8 | 115.7 | 0.99 | 0.98 | Trismus-pseudocamptodactyly syndrome, | 158300 |
| MYH9 | 115.9 | 0.99 | 0.97 | Deafness, autosomal dominant 17 | 603622 |
| MYH9 | 115.9 | 0.99 | 0.97 | Epstein syndrome, | 153650 |
| MYH9 | 115.9 | 0.99 | 0.97 | Fechtner syndrome, | 153640 |
| MYH9 | 115.9 | 0.99 | 0.97 | Macrothrombocytopenia and progressive sensorineural deafness, | 600208 |
| MYH9 | 115.9 | 0.99 | 0.97 | May-Hegglin anomaly, | 155100 |
| MYH9 | 115.9 | 0.99 | 0.97 | Sebastian syndrome, | 605249 |
| MYL2 | 131.2 | 0.99 | 0.94 | Cardiomyopathy, hypertrophic, 10 | 608758 |
| MYL3 | 101.8 | 1 | 1 | Cardiomyopathy, hypertrophic, 8 | 608751 |
| MYLK | 133.8 | 0.99 | 0.99 | Aortic aneurysm, familial thoracic 7 | 613780 |
| MYLK2 | 93.5 | 1 | 0.98 | Cardiomyopathy, hypertrophic, 1 digenic, | 192600 |
| MYO15A | 96.8 | 0.95 | 0.91 | Deafness, autosomal recessive 3 | 600316 |
| MYO18B | 110.7 | 0.99 | 0.97 | Klippel-Feil syndrome 4 autosomal recessive, with myopathy and facial dysmorphism, | 616549 |
| MYO1E | 118.8 | 0.97 | 0.92 | Glomerulosclerosis, focal segmental, 6 | 614131 |
| MYO3A | 107.9 | 0.96 | 0.91 | Deafness, autosomal recessive 30 | 607101 |
| MYO5A | 114.3 | 1 | 0.98 | Griscelli syndrome, type 1 | 214450 |
| MYO5B | 124.7 | 0.97 | 0.96 | Microvillus inclusion disease, | 251850 |
| MYO6 | 78.6 | 0.95 | 0.89 | Deafness, autosomal dominant 22 | 606346 |
| MYO6 | 78.6 | 0.95 | 0.89 | Deafness, autosomal dominant 22 with hypertrophic cardiomyopathy, | 606346 |
| MYO6 | 78.6 | 0.95 | 0.89 | Deafness, autosomal recessive 37 | 607821 |
| MYO7A | 120.1 | 0.98 | 0.95 | Deafness, autosomal dominant 11 | 601317 |
| MYO7A | 120.1 | 0.98 | 0.95 | Deafness, autosomal recessive 2 | 600060 |
| MYO7A | 120.1 | 0.98 | 0.95 | Usher syndrome, type 1B, | 276900 |
| MYOC | 141.5 | 1 | 0.99 | Glaucoma 1A, primary open angle, | 137750 |
| MYOT | 130.7 | 0.96 | 0.88 | Muscular dystrophy, limb-girdle, type 1A, | 159000 |
| MYOT | 130.7 | 0.96 | 0.88 | Myopathy, myofibrillar, 3 | 609200 |
| MYOT | 130.7 | 0.96 | 0.88 | Myopathy, spheroid body, | 182920 |
| MYOZ2 | 138.4 | 1 | 1 | Cardiomyopathy, hypertrophic, 16 | 613838 |
| MYPN | 129.7 | 0.99 | 0.98 | Cardiomyopathy, dilated, 1KK, | 615248 |
| MYPN | 129.7 | 0.99 | 0.98 | Cardiomyopathy, familial restrictive, 4 | 615248 |
| MYPN | 129.7 | 0.99 | 0.98 | Cardiomyopathy, hypertrophic, 22 | 615248 |
| MYT1L | 153 | 0.99 | 0.99 | Mental retardation, autosomal dominant 39 | 616521 |
| NAA10 | 112.3 | 1 | 0.97 | Ogden syndrome, | 300855 |
| NAA10 | 112.3 | 1 | 0.97 | ?Microphthalmia, syndromic 1 | 309800 |
| NAGA | 118.4 | 1 | 1 | Kanzaki disease, | 609242 |
| NAGA | 118.4 | 1 | 1 | Schindler disease, type I, | 609241 |
| NAGA | 118.4 | 1 | 1 | Schindler disease, type III, | 609241 |
| NAGLU | 97.6 | 0.94 | 0.91 | Mucopolysaccharidosis type IIIB (Sanfilippo B), | 252920 |
| NAGLU | 97.6 | 0.94 | 0.91 | ?Charcot-Marie-Tooth disease, axonal, type 2V, | 616491 |
| NAGS | 61.6 | 1 | 0.92 | N-acetylglutamate synthase deficiency, | 237310 |
| NALCN | 127 | 1 | 0.97 | Congenital contractures of the limbs and face, hypotonia, and developmental delay, | 616266 |
| NALCN | 127 | 1 | 0.97 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 615419 |
| NANOS1 | 32.3 | 0.93 | 0.74 | Spermatogenic failure 12 | 615413 |
| NANS | 102.3 | 1 | 1 | Sponyloepimetaphyseal dysplasia, Genevieve type, | 610442 |
| NARS2 | 127.1 | 0.97 | 0.96 | Combined oxidative phosphorylation deficiency 24 | 616239 |
| NBAS | 131.9 | 0.98 | 0.96 | Infantile liver failure syndrome 2 | 616483 |
| NBAS | 131.9 | 0.98 | 0.96 | Short stature, optic nerve atrophy, and Pelger-Huet anomaly, | 614800 |
| NBEAL2 | 147.3 | 0.99 | 0.99 | Gray platelet syndrome, | 139090 |
| NBN | 74.3 | 0.96 | 0.92 | Aplastic anemia, | 609135 |
| NBN | 74.3 | 0.96 | 0.92 | Leukemia, acute lymphoblastic, | 613065 |
| NBN | 74.3 | 0.96 | 0.92 | Nijmegen breakage syndrome, | 251260 |
| NCF1 | 14.4 | 0.25 | 0.2 | Chronic granulomatous disease due to deficiency of NCF-1, | 233700 |
| NCF2 | 104.8 | 0.98 | 0.96 | Chronic granulomatous disease due to deficiency of NCF-2, | 233710 |
| NCF4 | 138.6 | 1 | 1 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, | 613960 |
| NCSTN | 107.4 | 1 | 1 | Acne inversa, familial, 1 | 142690 |
| NDE1 | 84.3 | 1 | 1 | Lissencephaly 4 (with microcephaly), | 614019 |
| NDE1 | 84.3 | 1 | 1 | ?Microhydranencephaly, | 605013 |
| NDN | 71.3 | 0.81 | 0.7 | Prader-Willi syndrome, | 176270 |
| NDP | 152.6 | 1 | 1 | Exudative vitreoretinopathy 2 X-linked, | 305390 |
| NDP | 152.6 | 1 | 1 | Norrie disease, | 310600 |
| NDRG1 | 114.1 | 1 | 1 | Charcot-Marie-Tooth disease, type 4D, | 601455 |
| NDST1 | 164.7 | 1 | 1 | Mental retardation, autosomal recessive 46 | 616116 |
| NDUFA1 | 215.2 | 1 | 1 | Mitochondrial complex I deficiency, | 252010 |
| NDUFA11 | 76.6 | 1 | 0.9 | Mitochondrial complex I deficiency, | 252010 |
| NDUFA12 | 129.1 | 1 | 1 | Leigh syndrome due to mitochondrial complex 1 deficiency, | 256000 |
| NDUFA2 | 112.5 | 1 | 1 | Leigh syndrome due to mitochondrial complex I deficiency, | 256000 |
| NDUFA9 | 120 | 0.99 | 0.95 | Leigh syndrome due to mitochondrial complex I deficiency, | 256000 |
| NDUFAF1 | 85.6 | 1 | 0.99 | Mitochondrial complex I deficiency, | 252010 |
| NDUFAF2 | 52.4 | 0.82 | 0.7 | Leigh syndrome, | 256000 |
| NDUFAF2 | 52.4 | 0.82 | 0.7 | Mitochondrial complex I deficiency, | 252010 |
| NDUFAF3 | 96.5 | 1 | 1 | Mitochondrial complex I deficiency, | 252010 |
| NDUFAF4 | 85.6 | 0.99 | 0.96 | Mitochondrial complex I deficiency, | 252010 |
| NDUFAF5 | 96.4 | 0.94 | 0.93 | Mitochondrial complex 1 deficiency, | 252010 |
| NDUFAF6 | 73.7 | 0.99 | 0.9 | Leigh syndrome due to mitochondrial complex I deficiency, | 256000 |
| NDUFB11 | 109.9 | 0.94 | 0.87 | Linear skin defects with multiple congenital anomalies 3 | 300952 |
| NDUFB3 | 12.3 | 0.62 | 0.28 | Mitochondrial complex I deficiency, | 252010 |
| NDUFS1 | 122.4 | 1 | 0.99 | Mitochondrial complex I deficiency, | 252010 |
| NDUFS2 | 94 | 0.99 | 0.98 | Mitochondrial complex I deficiency, | 252010 |
| NDUFS3 | 117.1 | 0.9 | 0.9 | Leigh syndrome due to mitochondrial complex I deficiency, | 256000 |
| NDUFS3 | 117.1 | 0.9 | 0.9 | Mitochondrial complex I deficiency, | 252010 |
| NDUFS4 | 141.6 | 1 | 0.99 | Leigh syndrome, | 256000 |
| NDUFS4 | 141.6 | 1 | 0.99 | Mitochondrial complex I deficiency, | 252010 |
| NDUFS6 | 121.3 | 1 | 1 | Mitochondrial complex I deficiency, | 252010 |
| NDUFS7 | 113 | 1 | 0.98 | Leigh syndrome, | 256000 |
| NDUFS8 | 102.1 | 1 | 1 | Leigh syndrome due to mitochondrial complex I deficiency, | 256000 |
| NDUFV1 | 133.9 | 1 | 0.97 | Mitochondrial complex I deficiency, | 252010 |
| NDUFV2 | 58.2 | 0.83 | 0.49 | Mitochondrial complex I deficiency, | 252010 |
| NEB | 114.4 | 0.82 | 0.81 | Nemaline myopathy 2 autosomal recessive, | 256030 |
| NEFH | 83.7 | 0.98 | 0.97 | Charcot-Marie-Tooth disease,axonal,type 2CC, | 616924 |
| NEFH | 83.7 | 0.98 | 0.97 | ?{Amyotrophic lateral sclerosis, susceptibility to}, | 105400 |
| NEFL | 127.7 | 0.99 | 0.96 | Charcot-Marie-Tooth disease, type 1F, | 607734 |
| NEFL | 127.7 | 0.99 | 0.96 | Charcot-Marie-Tooth disease, type 2E, | 607684 |
| NEK1 | 99.1 | 0.97 | 0.91 | Short-rib thoracic dysplasia 6 with or without polydactyly, | 263520 |
| NEK9 | 123.7 | 0.99 | 0.96 | Lethal congenital contracture syndrome 10 | 617022 |
| NEK9 | 123.7 | 0.99 | 0.96 | Nevus comedonicus, somatic, | 617025 |
| NEK9 | 123.7 | 0.99 | 0.96 | ?Arthrogryposis, Perthes disease, and upward gaze palsy, | 614262 |
| NEU1 | 12.2 | 0.61 | 0.15 | Sialidosis, type I, | 256550 |
| NEU1 | 12.2 | 0.61 | 0.15 | Sialidosis, type II, | 256550 |
| NEUROD1 | 139.9 | 1 | 1 | Maturity-onset diabetes of the young 6 | 606394 |
| NEUROD1 | 139.9 | 1 | 1 | {Diabetes mellitus, noninsulin-dependent}, | 125853 |
| NEUROG3 | 85.5 | 1 | 0.95 | Diarrhea 4 malabsorptive, congenital, | 610370 |
| NEXN | 65 | 0.88 | 0.76 | Cardiomyopathy, dilated, 1CC, | 613122 |
| NEXN | 65 | 0.88 | 0.76 | Cardiomyopathy, hypertrophic, 20 | 613876 |
| NF1 | 110.4 | 0.92 | 0.87 | Leukemia, juvenile myelomonocytic, | 607785 |
| NF1 | 110.4 | 0.92 | 0.87 | Neurofibromatosis, familial spinal, | 162210 |
| NF1 | 110.4 | 0.92 | 0.87 | Neurofibromatosis, type 1 | 162200 |
| NF1 | 110.4 | 0.92 | 0.87 | Neurofibromatosis-Noonan syndrome, | 601321 |
| NF1 | 110.4 | 0.92 | 0.87 | Watson syndrome, | 193520 |
| NF2 | 89.6 | 1 | 0.99 | Meningioma, NF2-related, somatic, | 607174 |
| NF2 | 89.6 | 1 | 0.99 | Neurofibromatosis, type 2 | 101000 |
| NF2 | 89.6 | 1 | 0.99 | Schwannomatosis, | 162091 |
| NFIX | 127.6 | 0.98 | 0.97 | Marshall-Smith syndrome, | 602535 |
| NFIX | 127.6 | 0.98 | 0.97 | Sotos syndrome 2 | 614753 |
| NFKB1 | 98.2 | 0.99 | 0.9 | Immunodeficiency, common variable, 12 | 616576 |
| NFKB2 | 109.8 | 0.96 | 0.91 | Immunodeficiency, common variable, 10 | 615577 |
| NFKBIA | 94.6 | 0.94 | 0.91 | Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, | 612132 |
| NFU1 | 43.5 | 0.98 | 0.81 | Multiple mitochondrial dysfunctions syndrome 1 | 605711 |
| NGF | 218.4 | 1 | 1 | Neuropathy, hereditary sensory and autonomic, type V, | 608654 |
| NGLY1 | 117.1 | 1 | 0.99 | Congenital disorder of deglycosylation, | 615273 |
| NHEJ1 | 67.8 | 1 | 1 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing | 615273 |
| NHEJ1 | 67.8 | 1 | 1 | radiation, | 611291 |
| NHLRC1 | 126 | 1 | 1 | Epilepsy, progressive myoclonic 2B (Lafora), | 254780 |
| NHP2 | 71 | 1 | 0.99 | Dyskeratosis congenita, autosomal recessive 2 | 613987 |
| NHS | 144.9 | 0.95 | 0.93 | Cataract 40 X-linked, | 302200 |
| NHS | 144.9 | 0.95 | 0.93 | Nance-Horan syndrome, | 302350 |
| NIN | 139 | 0.99 | 0.97 | Seckel syndrome 7 | 614851 |
| NIPA1 | 135 | 1 | 0.97 | Spastic paraplegia 6 autosomal dominant, | 600363 |
| NIPAL4 | 129.5 | 1 | 0.97 | Ichthyosis, congenital, autosomal recessive 6 | 612281 |
| NIPBL | 99.7 | 0.96 | 0.95 | Cornelia de Lange syndrome 1 | 122470 |
| NKX2-1 | 39.2 | 1 | 0.91 | Chorea, hereditary benign, | 118700 |
| NKX2-1 | 39.2 | 1 | 0.91 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress, | 610978 |
| NKX2-1 | 39.2 | 1 | 0.91 | {Thyroid cancer, monmedullary, 1}, | 188550 |
| NKX2-5 | 76.5 | 0.99 | 0.99 | Atrial septal defect 7 with or without AV conduction defects, | 108900 |
| NKX2-5 | 76.5 | 0.99 | 0.99 | Conotruncal heart malformations, variable, | 217095 |
| NKX2-5 | 76.5 | 0.99 | 0.99 | Hypoplastic left heart syndrome 2 | 614435 |
| NKX2-5 | 76.5 | 0.99 | 0.99 | Hypothyroidism, congenital nongoitrous, 5 | 225250 |
| NKX2-5 | 76.5 | 0.99 | 0.99 | Tetrology of Fallot, | 187500 |
| NKX2-5 | 76.5 | 0.99 | 0.99 | Ventricular septal defect 3 | 614432 |
| NKX2-6 | 90.1 | 1 | 0.99 | Conotruncal heart malformations, | 217095 |
| NKX2-6 | 90.1 | 1 | 0.99 | Persistent truncus arteriosus, | 217095 |
| NKX3-2 | 42 | 0.79 | 0.55 | Spondylo-megaepiphyseal-metaphyseal dysplasia, | 613330 |
| NLGN4X | 188.3 | 1 | 0.97 | Mental retardation, X-linked, | 300495 |
| NLGN4X | 188.3 | 1 | 0.97 | {Asperger syndrome susceptibility, X-linked 2}, | 300497 |
| NLGN4X | 188.3 | 1 | 0.97 | {Autism susceptibility, X-linked 2}, | 300495 |
| NLRC4 | 146.4 | 1 | 0.99 | Autoinflammation with infantile enterocolitis, | 616050 |
| NLRC4 | 146.4 | 1 | 0.99 | ?Familial cold autoinflammatory syndrome 4 | 616115 |
| NLRP12 | 131 | 0.99 | 0.99 | Familial cold autoinflammatory syndrome 2 | 611762 |
| NLRP3 | 128.6 | 1 | 0.99 | CINCA syndrome, | 607115 |
| NLRP3 | 128.6 | 1 | 0.99 | Familial cold-induced inflammatory syndrome 1 | 120100 |
| NLRP3 | 128.6 | 1 | 0.99 | Muckle-Wells syndrome, | 191900 |
| NLRP7 | 120.9 | 0.99 | 0.97 | Hydatidiform mole,recurrent, 1,23109 | 191900 |
| NME1 | 80.5 | 1 | 0.96 | Neuroblastoma, | 256700 |
| NME8 | 95.6 | 0.96 | 0.9 | Ciliary dyskinesia, primary, 6 | 610852 |
| NMNAT1 | 114.7 | 1 | 0.96 | Leber congenital amaurosis 9 | 608553 |
| NNT | 127.7 | 0.97 | 0.96 | Glucocorticoid deficiency 4 | 614736 |
| NOBOX | 67.3 | 1 | 0.95 | Premature ovarian failure 5 | 611548 |
| NOD2 | 122.6 | 1 | 0.99 | Blau syndrome, | 186580 |
| NOD2 | 122.6 | 1 | 0.99 | Sarcoidosis, early-onset, | 609464 |
| NOD2 | 122.6 | 1 | 0.99 | {Inflammatory bowel disease 1}, | 266600 |
| NOD2 | 122.6 | 1 | 0.99 | {Psoriatic arthritis, susceptibility to}, | 607507 |
| NODAL | 131.2 | 1 | 1 | Heterotaxy, visceral, 5 | 270100 |
| NOG | 148.2 | 1 | 1 | Brachydactyly, type B2, | 611377 |
| NOG | 148.2 | 1 | 1 | Multiple synostoses syndrome 1 | 186500 |
| NOG | 148.2 | 1 | 1 | Stapes ankylosis with broad thumb and toes, | 184460 |
| NOG | 148.2 | 1 | 1 | Symphalangism, proximal, 1A, | 185800 |
| NOG | 148.2 | 1 | 1 | Tarsal-carpal coalition syndrome, | 186570 |
| NOL3 | 71.2 | 0.91 | 0.8 | Myoclonus, familial cortical, | 614937 |
| NONO | 110.2 | 1 | 0.98 | Mental retardation, X-linked, syndromic 34 | 300967 |
| NOP10 | 148.8 | 1 | 1 | Dyskeratosis congenita, autosomal recessive 1 | 224230 |
| NOP56 | 111.5 | 0.98 | 0.95 | Spinocerebellar ataxia 36 | 614153 |
| NOTCH1 | 125.3 | 0.99 | 0.97 | Adams-Oliver syndrome 5 | 616028 |
| NOTCH1 | 125.3 | 0.99 | 0.97 | Aortic valve disease 1 | 109730 |
| NOTCH2 | 150.5 | 1 | 0.99 | Alagille syndrome 2 | 610205 |
| NOTCH2 | 150.5 | 1 | 0.99 | Hajdu-Cheney syndrome, | 102500 |
| NOTCH3 | 98.3 | 0.94 | 0.89 | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 | 125310 |
| NOTCH3 | 98.3 | 0.94 | 0.89 | Lateral meningocele syndrome, | 130720 |
| NOTCH3 | 98.3 | 0.94 | 0.89 | ?Myofibromatosis, infantile 2 | 615293 |
| NPC1 | 126.2 | 0.99 | 0.97 | Niemann-Pick disease, type C1, | 257220 |
| NPC1 | 126.2 | 0.99 | 0.97 | Niemann-Pick disease, type D, | 257220 |
| NPC1 | 126.2 | 0.99 | 0.97 | {Nasopharyngeal carcinoma 1} | 257220 |
| NPC2 | 121.9 | 1 | 1 | Niemann-pick disease, type C2, | 607625 |
| NPHP1 | 118.5 | 0.98 | 0.97 | Joubert syndrome 4 | 609583 |
| NPHP1 | 118.5 | 0.98 | 0.97 | Nephronophthisis 1 juvenile, | 256100 |
| NPHP1 | 118.5 | 0.98 | 0.97 | Senior-Loken syndrome-1, | 266900 |
| NPHP3 | 105 | 0.97 | 0.91 | Meckel syndrome 7 | 267010 |
| NPHP3 | 105 | 0.97 | 0.91 | Nephronophthisis 3 | 604387 |
| NPHP3 | 105 | 0.97 | 0.91 | Renal-hepatic-pancreatic dysplasia 1 | 208540 |
| NPHP4 | 122.1 | 1 | 0.99 | Nephronophthisis 4 | 606966 |
| NPHP4 | 122.1 | 1 | 0.99 | Senior-Loken syndrome 4 | 606996 |
| NPHS1 | 90.7 | 0.99 | 0.96 | Nephrotic syndrome, type 1 | 256300 |
| NPHS2 | 93.3 | 1 | 0.98 | Nephrotic syndrome, type 2 | 600995 |
| NPM1 | 63.2 | 0.88 | 0.77 | Leukemia, acute myeloid, somatic, | 601626 |
| NPPA | 89.2 | 1 | 0.99 | Atrial fibrillation, familial, 6 | 612201 |
| NPPA | 89.2 | 1 | 0.99 | Atrial standstill 2 | 615745 |
| NPR2 | 148.3 | 1 | 1 | Acromesomelic dysplasia, Maroteaux type, | 602875 |
| NPR2 | 148.3 | 1 | 1 | Epiphyseal chondrodysplasia, Miura type, | 615923 |
| NPR2 | 148.3 | 1 | 1 | Short stature with nonspecific skeletal abnormalities, | 616255 |
| NR0B1 | 131.4 | 1 | 1 | 46XY sex reversal 2 dosage-sensitive, | 300018 |
| NR0B1 | 131.4 | 1 | 1 | Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism, | 300200 |
| NR0B2 | 78.4 | 1 | 1 | Obesity, mild, early-onset, | 601665 |
| NR1H4 | 138.6 | 0.96 | 0.89 | Cholestasis, progressive familial intrahepatic 5 | 617049 |
| NR2E3 | 84.7 | 1 | 1 | Enhanced S-cone syndrome, | 268100 |
| NR2E3 | 84.7 | 1 | 1 | Retinitis pigmentosa 37 | 611131 |
| NR2F1 | 164.3 | 1 | 1 | Bosch-Boonstra-Schaaf optic atrophy syndrome, | 615722 |
| NR2F2 | 170.2 | 0.94 | 0.91 | Congenital heart defects, multiple types, 4 | 615779 |
| NR3C1 | 134.1 | 1 | 0.99 | Glucocorticoid resistance, | 615962 |
| NR3C2 | 149.9 | 0.99 | 0.95 | Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, | 605115 |
| NR3C2 | 149.9 | 0.99 | 0.95 | Pseudohypoaldosteronism type I, autosomal dominant, | 177735 |
| NR4A3 | 88.5 | 0.99 | 0.87 | Chondrosarcoma,extraskeletal myxoid, | 612237 |
| NR5A1 | 74.8 | 1 | 0.99 | 46XY sex reversal 3 | 612965 |
| NR5A1 | 74.8 | 1 | 0.99 | Adrenocortical insufficiency | 612965 |
| NR5A1 | 74.8 | 1 | 0.99 | Premature ovarian failure 7 | 612964 |
| NR5A1 | 74.8 | 1 | 0.99 | Spermatogenic failure 8 | 613957 |
| NRAS | 175.3 | 1 | 1 | Colorectal cancer, somatic, | 114500 |
| NRAS | 175.3 | 1 | 1 | Epidermal nevus, somatic, | 162900 |
| NRAS | 175.3 | 1 | 1 | Melanocytic nevus syndrome, congenital, somatic, | 137550 |
| NRAS | 175.3 | 1 | 1 | Neurocutaneous melanosis, somatic, | 249400 |
| NRAS | 175.3 | 1 | 1 | Noonan syndrome 6 | 613224 |
| NRAS | 175.3 | 1 | 1 | Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, | 163200 |
| NRAS | 175.3 | 1 | 1 | Thyroid carcinoma, follicular, somatic, | 188470 |
| NRAS | 175.3 | 1 | 1 | ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic, | 614470 |
| NRL | 61.3 | 0.99 | 0.85 | Retinal degeneration, autosomal recessive, clumped pigment type | 614470 |
| NRL | 61.3 | 0.99 | 0.85 | Retinitis pigmentosa 27 | 613750 |
| NRXN1 | 142.9 | 0.98 | 0.97 | Pitt-Hopkins-like syndrome 2 | 614325 |
| NRXN1 | 142.9 | 0.98 | 0.97 | {Schizophrenia, susceptibility to, 17}, | 614332 |
| NSD1 | 139.4 | 1 | 1 | Beckwith-Wiedemann syndrome, | 130650 |
| NSD1 | 139.4 | 1 | 1 | Leukemia, acute myeloid, | 601626 |
| NSD1 | 139.4 | 1 | 1 | Sotos syndrome 1 | 117550 |
| NSDHL | 204.8 | 1 | 1 | CHILD syndrome, | 308050 |
| NSDHL | 204.8 | 1 | 1 | CK syndrome, | 300831 |
| NSMF | 91.7 | 0.96 | 0.94 | Hypogonadotropic hypogonadism 9 with or without anosmia, | 614838 |
| NSUN2 | 98.8 | 0.94 | 0.87 | Mental retardation, autosomal recessive 5 | 611091 |
| NT5C2 | 126.3 | 0.96 | 0.94 | Spastic paraplegia 45 autosomal recessive, | 613162 |
| NT5C3A | 57 | 0.84 | 0.66 | Anemia, hemolytic, due to UMPH1 deficiency, | 266120 |
| NT5E | 150.7 | 1 | 0.98 | Calcification of joints and arteries, | 211800 |
| NTF4 | 49.9 | 0.92 | 0.81 | Glaucoma 1 open angle, 1O, | 613100 |
| NTHL1 | 99.3 | 0.96 | 0.93 | Familial adenomatous polyposis 3 | 616415 |
| NTRK1 | 111.1 | 1 | 0.97 | Insensitivity to pain, congenital, with anhidrosis, | 256800 |
| NTRK1 | 111.1 | 1 | 0.97 | Medullary thyroid carcinoma, familial, | 155240 |
| NUBPL | 81.5 | 0.9 | 0.82 | Mitochondrial complex I deficiency, | 252010 |
| NUMA1 | 103.7 | 1 | 0.99 | Leukemia, acute promyelocytic, somatic, | 612376 |
| NUP107 | 104.8 | 0.98 | 0.9 | Nephrotic syndrome, type 11 | 616730 |
| NUP214 | 139 | 1 | 0.99 | Leukemia, acute myeloid, somatic, | 601626 |
| NUP214 | 139 | 1 | 0.99 | Leukemia, T-cell acute lymphoblastic, somatic, | 613065 |
| NUP62 | 109.3 | 1 | 1 | Striatonigral degeneration, infantile, | 271930 |
| NUP93 | 121 | 0.96 | 0.93 | Nephrotic syndrome, type 12, | 616892 |
| NYX | 86.7 | 0.97 | 0.96 | Night blindness, congenital stationary (complete), 1A, X-linked, | 310500 |
| OAT | 73.4 | 0.7 | 0.65 | Gyrate atrophy of choroid and retina with or without ornithinemia, | 258870 |
| OBSL1 | 115.8 | 0.98 | 0.95 | 3-M syndrome 2 | 612921 |
| OCA2 | 120.2 | 0.97 | 0.96 | Albinism, brown oculocutaneous, | 203200 |
| OCA2 | 120.2 | 0.97 | 0.96 | Albinism, oculocutaneous, type II, | 203200 |
| OCA2 | 120.2 | 0.97 | 0.96 | [Skin/hair/eye pigmentation 1 blond/brown hair], | 227220 |
| OCA2 | 120.2 | 0.97 | 0.96 | [Skin/hair/eye pigmentation 1 blue/nonblue eyes], | 227220 |
| OCLN | 218.4 | 1 | 1 | Band-like calcification with simplified gyration and polymicrogyria, | 251290 |
| OCRL | 164.3 | 1 | 0.99 | Dent disease 2 | 300555 |
| OCRL | 164.3 | 1 | 0.99 | Lowe syndrome, | 309000 |
| OFD1 | 57.7 | 0.88 | 0.78 | Joubert syndrome 10 | 300804 |
| OFD1 | 57.7 | 0.88 | 0.78 | Orofaciodigital syndrome I, | 311200 |
| OFD1 | 57.7 | 0.88 | 0.78 | Simpson-Golabi-Behmel syndrome, type 2 | 300209 |
| OFD1 | 57.7 | 0.88 | 0.78 | ?Retinitis pigmentosa 23 | 300424 |
| OGG1 | 121.4 | 1 | 1 | Renal cell carcinoma, clear cell, somatic, | 144700 |
| OPA1 | 113.8 | 0.97 | 0.92 | Behr syndrome, | 210000 |
| OPA1 | 113.8 | 0.97 | 0.92 | Optic atrophy 1 | 165500 |
| OPA1 | 113.8 | 0.97 | 0.92 | Optic atrophy plus syndrome, | 125250 |
| OPA1 | 113.8 | 0.97 | 0.92 | ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), | 616896 |
| OPA1 | 113.8 | 0.97 | 0.92 | {Glaucoma, normal tension, susceptibility to}, | 606657 |
| OPA3 | 90.6 | 0.97 | 0.94 | 3-methylglutaconic aciduria, type III, | 258501 |
| OPA3 | 90.6 | 0.97 | 0.94 | Optic atrophy 3 with cataract, | 165300 |
| OPHN1 | 117.6 | 1 | 0.99 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, | 300486 |
| OPLAH | 94.3 | 1 | 0.97 | 5-oxoprolinase deficiency, | 260005 |
| OPN1LW | 78.3 | 0.71 | 0.66 | Blue cone monochromacy, | 303700 |
| OPN1LW | 78.3 | 0.71 | 0.66 | Colorblindness, protan, | 303900 |
| OPN1MW | 40.7 | 0.66 | 0.62 | Blue cone monochromacy, | 303700 |
| OPN1MW | 40.7 | 0.66 | 0.62 | Colorblindness, deutan, | 303800 |
| OPN1SW | 103.4 | 1 | 1 | Colorblindness, tritan, | 190900 |
| OPTN | 95.5 | 1 | 0.99 | Amyotrophic lateral sclerosis 12 | 613435 |
| OPTN | 95.5 | 1 | 0.99 | Glaucoma 1 open angle, E, | 137760 |
| OPTN | 95.5 | 1 | 0.99 | {Glaucoma, normal tension, susceptibility to}, | 606657 |
| ORAI1 | 175.4 | 0.93 | 0.89 | Immunodeficiency 9 | 612782 |
| ORAI1 | 175.4 | 0.93 | 0.89 | Myopathy, tubular aggregate, 2 | 615883 |
| ORC1 | 95.7 | 0.98 | 0.93 | Meier-Gorlin syndrome 1 | 224690 |
| ORC4 | 59.1 | 0.95 | 0.85 | Meier-Gorlin syndrome 2 | 613800 |
| ORC6 | 122.8 | 1 | 1 | Meier-Gorlin syndrome 3 | 613803 |
| OSBPL2 | 130.3 | 1 | 1 | Deafness, autosomal dominant 67 | 616340 |
| OSMR | 120.9 | 1 | 0.99 | Amyloidosis, primary localized cutaneous, 1 | 105250 |
| OSTM1 | 53.7 | 0.9 | 0.83 | Osteopetrosis, autosomal recessive 5 | 259720 |
| OTC | 139.1 | 1 | 1 | Ornithine transcarbamylase deficiency, | 311250 |
| OTOA | 99.5 | 0.98 | 0.95 | Deafness, autosomal recessive 22 | 607039 |
| OTOF | 116.6 | 0.99 | 0.98 | Auditory neuropathy, autosomal recessive, 1 | 601071 |
| OTOF | 116.6 | 0.99 | 0.98 | Deafness, autosomal recessive 9 | 601071 |
| OTOG | 119 | 0.99 | 0.97 | Deafness, autosomal recessive 18B, | 614945 |
| OTOGL | 110.8 | 0.98 | 0.93 | Deafness, autosomal recessive 84B, | 614944 |
| OTX2 | 119.3 | 1 | 0.98 | Microphthalmia, syndromic 5 | 610125 |
| OTX2 | 119.3 | 1 | 0.98 | Pituitary hormone deficiency, combined, 6 | 613986 |
| OTX2 | 119.3 | 1 | 0.98 | Retinal dystrophy, early-onset, with or without pituitary dysfunction, | 610125 |
| OVOL2 | 105.3 | 1 | 0.97 | Corneal dystrophy, posterior polymorphous, 1 | 122000 |
| OXCT1 | 106 | 1 | 0.96 | Succinyl CoA:3-oxoacid CoA transferase deficiency, | 245050 |
| P2RX1 | 104.9 | 0.99 | 0.97 | Bleeding disorder due to P2RX1 defect, somatic, | 609821 |
| P2RX2 | 108.6 | 1 | 0.97 | Deafness, autosomal dominant 41 | 608224 |
| P2RY12 | 187.5 | 1 | 1 | Bleeding disorder, platelet-type, 8 | 609821 |
| P4HB | 102.1 | 0.94 | 0.94 | Cole-Carpenter syndrome 1 | 112240 |
| PABPN1 | 70.4 | 0.65 | 0.58 | Oculopharyngeal muscular dystrophy, | 164300 |
| PACS1 | 102.2 | 0.97 | 0.95 | Schuss-Hoeijmakers-syndrome, | 615009 |
| PAFAH1B1 | 93.5 | 0.88 | 0.78 | Lissencephaly 1 | 607432 |
| PAFAH1B1 | 93.5 | 0.88 | 0.78 | Subcortical laminar heterotopia, | 607432 |
| PAH | 153.3 | 1 | 1 | Phenylketonuria, | 261600 |
| PAH | 153.3 | 1 | 1 | [Hyperphenylalaninemia, non-PKU mild], | 261600 |
| PAK3 | 104.5 | 0.97 | 0.92 | Mental retardation, X-linked 30/47, | 300558 |
| PALB2 | 149.2 | 1 | 1 | Fanconi anemia, complementation group N, | 610832 |
| PALB2 | 149.2 | 1 | 1 | {Breast cancer, susceptibility to}, | 114480 |
| PALB2 | 149.2 | 1 | 1 | {Pancreatic cancer, susceptibility to, 3}, | 613348 |
| PAM16 | 43.8 | 0.65 | 0.64 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, | 613320 |
| PANK2 | 147.7 | 0.98 | 0.93 | HARP syndrome, | 607236 |
| PANK2 | 147.7 | 0.98 | 0.93 | Neurodegeneration with brain iron accumulation 1 | 234200 |
| PAPSS2 | 86.8 | 1 | 0.98 | Brachyolmia 4 with mild epiphyseal and metaphyseal changes, | 612847 |
| PARK2 | 109.5 | 1 | 1 | Adenocarcinoma of lung, somatic, | 211980 |
| PARK2 | 109.5 | 1 | 1 | Adenocarcinoma, ovarian, somatic, | 167000 |
| PARK2 | 109.5 | 1 | 1 | Parkinson disease, juvenile, type 2 | 600116 |
| PARK2 | 109.5 | 1 | 1 | {Leprosy, susceptibility to}, | 607572 |
| PARK7 | 74.2 | 1 | 0.97 | Parkinson disease 7,autosomal recessive early-onset, | 606324 |
| PARN | 114.7 | 1 | 0.96 | Dyskeratosis congenita, autosomal recessive 6 | 616353 |
| PARN | 114.7 | 1 | 0.96 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 | 616371 |
| PAX2 | 149.3 | 1 | 1 | Glomerulosclerosis, focal segmental, 7 | 616002 |
| PAX2 | 149.3 | 1 | 1 | Papillorenal syndrome, | 120330 |
| PAX3 | 100.8 | 1 | 0.99 | Craniofacial-deafness-hand syndrome, | 122880 |
| PAX3 | 100.8 | 1 | 0.99 | Rhabdomyosarcoma 2 alveolar, | 268220 |
| PAX3 | 100.8 | 1 | 0.99 | Waardenburg syndrome, type 1 | 193500 |
| PAX3 | 100.8 | 1 | 0.99 | Waardenburg syndrome, type 3 | 148820 |
| PAX4 | 83.3 | 1 | 0.98 | Diabetes mellitus, type 2 | 125853 |
| PAX4 | 83.3 | 1 | 0.98 | Maturity-onset diabetes of the young, type IX, | 612225 |
| PAX4 | 83.3 | 1 | 0.98 | {Diabetes mellitus, ketosis-prone, susceptibility to}, | 612227 |
| PAX6 | 123.5 | 1 | 1 | Aniridia, | 106210 |
| PAX6 | 123.5 | 1 | 1 | Cataract with late-onset corneal dystrophy, | 106210 |
| PAX6 | 123.5 | 1 | 1 | Coloboma of optic nerve, | 120430 |
| PAX6 | 123.5 | 1 | 1 | Coloboma, ocular, | 120200 |
| PAX6 | 123.5 | 1 | 1 | Foveal hypoplasia 1 | 136520 |
| PAX6 | 123.5 | 1 | 1 | Keratitis, | 148190 |
| PAX6 | 123.5 | 1 | 1 | Optic nerve hypoplasia, | 165550 |
| PAX6 | 123.5 | 1 | 1 | Peters anomaly, | 604229 |
| PAX6 | 123.5 | 1 | 1 | ?Morning glory disc anomaly, | 120430 |
| PAX7 | 93.8 | 1 | 0.99 | Rhabdomyosarcoma 2 alveolar, | 268220 |
| PAX8 | 89.5 | 1 | 0.99 | Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, | 218700 |
| PAX9 | 201.1 | 0.99 | 0.95 | Tooth agenesis, selective, 3 | 604625 |
| PC | 126 | 0.97 | 0.93 | Pyruvate carboxylase deficiency, | 266150 |
| PCBD1 | 99.4 | 0.99 | 0.99 | Hyperphenylalaninemia, BH4-deficient, D, | 264070 |
| PCCA | 91.1 | 0.95 | 0.88 | Propionicacidemia, | 606054 |
| PCCB | 124.7 | 0.96 | 0.94 | Propionicacidemia, | 606054 |
| PCDH15 | 146.8 | 0.99 | 0.99 | Deafness, autosomal recessive 23 | 609533 |
| PCDH15 | 146.8 | 0.99 | 0.99 | Usher syndrome, type 1D/F digenic, | 601067 |
| PCDH15 | 146.8 | 0.99 | 0.99 | Usher syndrome, type 1F, | 602083 |
| PCDH19 | 215 | 1 | 1 | Epileptic encephalopathy, early infantile, 9 | 300088 |
| PCNT | 99.7 | 0.97 | 0.94 | Microcephalic osteodysplastic primordial dwarfism, type II, | 210720 |
| PCSK1 | 130.7 | 1 | 0.98 | Obesity with impaired prohormone processing, | 600955 |
| PCSK1 | 130.7 | 1 | 0.98 | {Obesity, susceptibility to, BMIQ12}, | 612362 |
| PCSK9 | 87 | 0.93 | 0.91 | Hypercholesterolemia, familial, 3 | 603776 |
| PCSK9 | 87 | 0.93 | 0.91 | {Low density lipoprotein cholesterol level QTL 1}, | 603776 |
| PCYT1A | 92.9 | 0.99 | 0.95 | Spondylometaphyseal dysplasia with cone-rod dystrophy, | 608940 |
| PDCD10 | 77.7 | 0.98 | 0.74 | Cerebral cavernous malformations 3 | 603285 |
| PDE10A | 133.5 | 1 | 0.99 | Dyskinesia,limb and orofacial,infantile-onset, | 616921 |
| PDE10A | 133.5 | 1 | 0.99 | Striatal degeneration,autosomal dominant, | 616922 |
| PDE11A | 138.7 | 1 | 1 | Pigmented nodular adrenocortical disease, primary, 2 | 610475 |
| PDE3A | 104 | 0.99 | 0.98 | Hypertension and brachydactyly syndrome, | 112410 |
| PDE4D | 101 | 0.98 | 0.94 | Acrodysostosis 2 with or without hormone resistance, | 614613 |
| PDE4D | 101 | 0.98 | 0.94 | {Stroke, susceptibility to, 1}, | 606799 |
| PDE6A | 104.9 | 1 | 1 | Retinitis pigmentosa 43 | 613810 |
| PDE6B | 133.6 | 1 | 1 | Night blindness, congenital stationary, autosomal dominant 2 | 163500 |
| PDE6B | 133.6 | 1 | 1 | Retinitis pigmentosa-40, | 613801 |
| PDE6C | 124.1 | 0.97 | 0.96 | Cone dystrophy 4 | 613093 |
| PDE6G | 77.3 | 0.96 | 0.92 | Retinitis pigmentosa 57 | 613582 |
| PDE6H | 51.2 | 0.74 | 0.48 | Achromatopsia 6 | 610024 |
| PDE6H | 51.2 | 0.74 | 0.48 | Retinal cone dystrophy 3 | 610024 |
| PDE8B | 99.4 | 1 | 0.99 | Pigmented nodular adrenocortical disease, primary, 3 | 614190 |
| PDE8B | 99.4 | 1 | 0.99 | Striatal degeneration, autosomal dominant, | 609161 |
| PDGFB | 90.8 | 1 | 1 | Basal ganglia calcification, idiopathic, 5 | 615483 |
| PDGFB | 90.8 | 1 | 1 | Dermatofibrosarcoma protuberans, | 607907 |
| PDGFB | 90.8 | 1 | 1 | Meningioma, SIS-related, | 607174 |
| PDGFRA | 135.8 | 1 | 0.99 | Gastrointestinal stromal tumor, somatic, | 606764 |
| PDGFRA | 135.8 | 1 | 0.99 | Hypereosinophilic syndrome, idiopathic, resistant to imatinib, | 607685 |
| PDGFRB | 131.1 | 0.98 | 0.95 | Basal ganglia calcification, idiopathic, 4 | 615007 |
| PDGFRB | 131.1 | 0.98 | 0.95 | Kosaki overgrowth syndrome, | 616592 |
| PDGFRB | 131.1 | 0.98 | 0.95 | Myeloproliferative disorder with eosinophilia, | 131440 |
| PDGFRB | 131.1 | 0.98 | 0.95 | Myofibromatosis, infantile, 1 | 228550 |
| PDGFRB | 131.1 | 0.98 | 0.95 | Premature aging syndrome, Penttinen type, | 601812 |
| PDGFRL | 122.3 | 1 | 0.98 | Colorectal cancer, somatic, | 114500 |
| PDGFRL | 122.3 | 1 | 0.98 | Hepatocellular cancer, somatic, | 114550 |
| PDHA1 | 125.5 | 0.99 | 0.92 | Pyruvate dehydrogenase E1-alpha deficiency, | 312170 |
| PDHB | 118.6 | 0.97 | 0.94 | Pyruvate dehydrogenase E1-beta deficiency, | 614111 |
| PDHX | 112 | 0.97 | 0.95 | Lacticacidemia due to PDX1 deficiency, | 245349 |
| PDP1 | 148.8 | 1 | 1 | Pyruvate dehydrogenase phosphatase deficiency, | 608782 |
| PDSS1 | 104.5 | 0.89 | 0.82 | Coenzyme Q10 deficiency, primary, 2 | 614651 |
| PDSS2 | 99.7 | 0.94 | 0.94 | Coenzyme Q10 deficiency, primary, 3 | 614652 |
| PDX1 | 20.5 | 0.69 | 0.46 | MODY, type IV, | 606392 |
| PDX1 | 20.5 | 0.69 | 0.46 | Pancreatic agenesis 1 | 260370 |
| PDX1 | 20.5 | 0.69 | 0.46 | {Diabetes mellitus, type II, susceptibility to}, | 125853 |
| PDYN | 100 | 1 | 1 | Spinocerebellar ataxia 23 | 610245 |
| PDZD7 | 84.8 | 1 | 0.97 | Usher syndrome, type IIC, GPR98/PDZD7 digenic, | 605472 |
| PDZD7 | 84.8 | 1 | 0.97 | {Retinal disease in Usher syndrome type IIA, modifier of}, | 276901 |
| PEPD | 99.1 | 1 | 1 | Prolidase deficiency, | 170100 |
| PER2 | 88 | 1 | 0.99 | Advanced sleep phase syndrome, familial, 1 | 604348 |
| PET100 | 114 | 0.84 | 0.72 | Mitochondrial complex IV deficiency, | 220110 |
| PEX1 | 101 | 0.98 | 0.97 | Heimler syndrome 1 | 234580 |
| PEX1 | 101 | 0.98 | 0.97 | Peroxisome biogenesis disorder 1A (Zellweger), | 214100 |
| PEX1 | 101 | 0.98 | 0.97 | Peroxisome biogenesis disorder 1B (NALD/IRD), | 601539 |
| PEX10 | 99.1 | 0.96 | 0.9 | Peroxisome biogenesis disorder 6A (Zellweger), | 614870 |
| PEX10 | 99.1 | 0.96 | 0.9 | Peroxisome biogenesis disorder 6B, | 614871 |
| PEX11B | 94 | 1 | 1 | Peroxisome biogenesis disorder 14B, | 614920 |
| PEX12 | 113.8 | 0.99 | 0.98 | Peroxisome biogenesis disorder 3A (Zellweger), | 614859 |
| PEX12 | 113.8 | 0.99 | 0.98 | Peroxisome biogenesis disorder 3B, | 266510 |
| PEX13 | 172.4 | 0.98 | 0.95 | Peroxisome biogenesis disorder 11A (Zellweger), | 614883 |
| PEX13 | 172.4 | 0.98 | 0.95 | Peroxisome biogenesis disorder 11B, | 614885 |
| PEX14 | 116 | 0.99 | 0.96 | Peroxisome biogenesis disorder 13A (Zellweger), | 614887 |
| PEX16 | 112.6 | 0.99 | 0.93 | Peroxisome biogenesis disorder 8A, (Zellweger), | 614876 |
| PEX16 | 112.6 | 0.99 | 0.93 | Peroxisome biogenesis disorder 8B, | 614877 |
| PEX19 | 98.2 | 1 | 0.99 | Peroxisome biogenesis disorder 12A (Zellweger), | 614886 |
| PEX2 | 134.9 | 1 | 1 | Peroxisome biogenesis disorder 5A (Zellweger), | 614866 |
| PEX2 | 134.9 | 1 | 1 | Peroxisome biogenesis disorder 5B, | 614867 |
| PEX26 | 63.5 | 1 | 0.98 | Peroxisome biogenesis disorder 7A (Zellweger), | 614872 |
| PEX26 | 63.5 | 1 | 0.98 | Peroxisome biogenesis disorder 7B, | 614873 |
| PEX3 | 83.4 | 0.95 | 0.92 | Peroxisome biogenesis disorder 10A (Zellweger), | 614882 |
| PEX5 | 92.3 | 1 | 0.96 | Peroxisome biogenesis disorder 2A (Zellweger), | 214110 |
| PEX5 | 92.3 | 1 | 0.96 | Peroxisome biogenesis disorder 2B, | 202370 |
| PEX5 | 92.3 | 1 | 0.96 | Rhizomelic chondrodysplasia punctata, type 5 | 616716 |
| PEX6 | 68.5 | 0.9 | 0.81 | Heimler syndrome 2 | 616617 |
| PEX6 | 68.5 | 0.9 | 0.81 | Peroxisome biogenesis disorder 4A (Zellweger), | 614862 |
| PEX6 | 68.5 | 0.9 | 0.81 | Peroxisome biogenesis disorder 4B, | 614863 |
| PEX7 | 114.5 | 0.89 | 0.84 | Peroxisome biogenesis disorder 9B, | 614879 |
| PEX7 | 114.5 | 0.89 | 0.84 | Rhizomelic chondrodysplasia punctata, type 1 | 215100 |
| PFKM | 140.3 | 1 | 0.99 | Glycogen storage disease VII, | 232800 |
| PFN1 | 139.1 | 1 | 1 | Amyotrophic lateral sclerosis 18 | 614808 |
| PGAM2 | 122.8 | 1 | 1 | Glycogen storage disease X, | 261670 |
| PGAP1 | 90.9 | 0.91 | 0.88 | Mental retardation, autosomal recessive 42 | 615802 |
| PGAP2 | 134.1 | 1 | 0.99 | Hyperphosphatasia with mental retardation syndrome 3 | 614207 |
| PGAP3 | 109.3 | 0.96 | 0.92 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 |
| PGK1 | 60.9 | 0.9 | 0.84 | Phosphoglycerate kinase 1 deficiency, | 300653 |
| PGM1 | 119.6 | 1 | 1 | Congenital disorder of glycosylation, type It, | 614921 |
| PGM3 | 171 | 1 | 1 | Immunodeficiency 23 | 615816 |
| PHEX | 153.1 | 0.98 | 0.96 | Hypophosphatemic rickets, X-linked dominant, | 307800 |
| PHF6 | 79.4 | 0.91 | 0.91 | Borjeson-Forssman-Lehmann syndrome, | 301900 |
| PHF8 | 112.2 | 1 | 0.99 | Mental retardation syndrome, X-linked, Siderius type, | 300263 |
| PHGDH | 105.9 | 1 | 0.99 | Neu-Laxova syndrome 1 | 256520 |
| PHGDH | 105.9 | 1 | 0.99 | Phosphoglycerate dehydrogenase deficiency, | 601815 |
| PHKA1 | 134.7 | 0.99 | 0.97 | Muscle glycogenosis, | 300559 |
| PHKA2 | 130.2 | 1 | 1 | Glycogen storage disease, type IXa1, | 306000 |
| PHKA2 | 130.2 | 1 | 1 | Glycogen storage disease, type IXa2, | 306000 |
| PHKB | 126 | 1 | 1 | Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, | 261750 |
| PHKG2 | 132.3 | 1 | 1 | Cirrhosis due to liver phosphorylase kinase deficiency | 261750 |
| PHKG2 | 132.3 | 1 | 1 | Glycogen storage disease IXc, | 613027 |
| PHOX2A | 33.9 | 0.49 | 0.22 | Fibrosis of extraocular muscles, congenital, 2 | 602078 |
| PHOX2B | 94.3 | 0.93 | 0.87 | Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, | 209880 |
| PHOX2B | 94.3 | 0.93 | 0.87 | Neuroblastoma with Hirschsprung disease, | 613013 |
| PHOX2B | 94.3 | 0.93 | 0.87 | {Neuroblastoma, susceptibility to, 2}, | 613013 |
| PHYH | 63.6 | 0.97 | 0.88 | Refsum disease, | 266500 |
| PI4KA | 99.2 | 0.91 | 0.83 | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, | 616531 |
| PICALM | 99.7 | 1 | 0.93 | Leukemia, acute myeloid, somatic, | 601626 |
| PIEZO1 | 128.6 | 0.99 | 0.97 | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, | 601626 |
| PIEZO1 | 128.6 | 0.99 | 0.97 | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, | 194380 |
| PIEZO1 | 128.6 | 0.99 | 0.97 | Lymphedema, hereditary, III, | 616843 |
| PIEZO2 | 112.2 | 0.99 | 0.98 | Arthrogryposis, distal, type 3 | 114300 |
| PIEZO2 | 112.2 | 0.99 | 0.98 | Arthrogryposis, distal, type 5 | 108145 |
| PIEZO2 | 112.2 | 0.99 | 0.98 | ?Marden-Walker syndrome, | 248700 |
| PIGA | 104 | 0.98 | 0.87 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 |
| PIGA | 104 | 0.98 | 0.87 | Paroxysmal nocturnal hemoglobinuria, somatic, | 300818 |
| PIGG | 151.5 | 1 | 0.96 | Mental retardation,autosomal recessive 53, | 616917 |
| PIGL | 111.8 | 1 | 1 | CHIME syndrome, | 280000 |
| PIGM | 128.6 | 1 | 1 | Glycosylphosphatidylinositol deficiency, | 610293 |
| PIGN | 104.4 | 0.95 | 0.86 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 614080 |
| PIGO | 103.3 | 1 | 0.99 | Hyperphosphatasia with mental retardation syndrome 2 | 614749 |
| PIGT | 127.6 | 1 | 0.97 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 615398 |
| PIGT | 127.6 | 1 | 0.97 | ?Paroxysmal nocturnal hemoglobinuria 2 | 615399 |
| PIGV | 144.4 | 1 | 1 | Hyperphosphatasia with mental retardation syndrome 1 | 239300 |
| PIGY | 86.2 | 1 | 0.99 | Hyperphosphatasia with mental retardation syndrome 6 | 616809 |
| PIK3CA | 109.9 | 0.99 | 0.97 | Breast cancer, somatic, | 114480 |
| PIK3CA | 109.9 | 0.99 | 0.97 | CLOVE syndrome, somatic, | 612918 |
| PIK3CA | 109.9 | 0.99 | 0.97 | Colorectal cancer, somatic, | 114500 |
| PIK3CA | 109.9 | 0.99 | 0.97 | Cowden syndrome 5 | 615108 |
| PIK3CA | 109.9 | 0.99 | 0.97 | Gastric cancer, somatic, | 613659 |
| PIK3CA | 109.9 | 0.99 | 0.97 | Hepatocellular carcinoma, somatic, | 114550 |
| PIK3CA | 109.9 | 0.99 | 0.97 | Keratosis, seborrheic, somatic, | 182000 |
| PIK3CA | 109.9 | 0.99 | 0.97 | Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, | 602501 |
| PIK3CA | 109.9 | 0.99 | 0.97 | Nevus, epidermal, somatic, | 162900 |
| PIK3CA | 109.9 | 0.99 | 0.97 | Nonsmall cell lung cancer, somatic, | 211980 |
| PIK3CA | 109.9 | 0.99 | 0.97 | Ovarian cancer, somatic, | 167000 |
| PIK3CD | 112.7 | 0.98 | 0.95 | Immunodeficiency 14 | 615513 |
| PIK3R1 | 120.6 | 1 | 0.97 | Immunodeficiency 36 | 616005 |
| PIK3R1 | 120.6 | 1 | 0.97 | SHORT syndrome, | 269880 |
| PIK3R1 | 120.6 | 1 | 0.97 | ?Agammaglobulinemia 7 autosomal recessive, | 615214 |
| PIK3R2 | 80.1 | 0.88 | 0.86 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 603387 |
| PIK3R5 | 99.6 | 0.99 | 0.98 | Ataxia-oculomotor apraxia 3 | 615217 |
| PIKFYVE | 128.3 | 0.99 | 0.93 | Corneal fleck dystrophy, | 121850 |
| PINK1 | 86.3 | 0.93 | 0.89 | Parkinson disease 6 early onset, | 605909 |
| PIP5K1C | 106 | 0.97 | 0.93 | Lethal congenital contractural syndrome 3 | 611369 |
| PITPNM3 | 93 | 0.98 | 0.95 | Cone-rod dystrophy 5 | 600977 |
| PITX1 | 122.9 | 0.92 | 0.88 | Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, | 119800 |
| PITX1 | 122.9 | 0.92 | 0.88 | Liebenberg syndrome, | 186550 |
| PITX2 | 122.4 | 0.98 | 0.95 | Axenfeld-Rieger syndrome, type 1 | 180500 |
| PITX2 | 122.4 | 0.98 | 0.95 | Iridogoniodysgenesis, type 2 | 137600 |
| PITX2 | 122.4 | 0.98 | 0.95 | Peters anomaly, | 604229 |
| PITX2 | 122.4 | 0.98 | 0.95 | Ring dermoid of cornea, | 180550 |
| PITX3 | 51.9 | 1 | 0.95 | Anterior segment mesenchymal dysgenesis, | 107250 |
| PITX3 | 51.9 | 1 | 0.95 | Cataract 11 multiple types, | 610623 |
| PITX3 | 51.9 | 1 | 0.95 | Cataract 11 syndromic, | 610623 |
| PKD1 | 22.7 | 0.4 | 0.29 | Polycystic kidney disease, adult type I, | 173900 |
| PKD2 | 96.7 | 0.9 | 0.86 | Polycystic kidney disease 2 | 613095 |
| PKHD1 | 138.4 | 1 | 0.99 | Polycystic kidney and hepatic disease, | 263200 |
| PKLR | 142 | 1 | 0.99 | Adenosine triphosphate, elevated, of erythrocytes, | 102900 |
| PKLR | 142 | 1 | 0.99 | Pyruvate kinase deficiency, | 266200 |
| PKP1 | 107.5 | 1 | 0.98 | Ectodermal dysplasia/skin fragility syndrome, | 604536 |
| PKP2 | 88.1 | 0.96 | 0.89 | Arrhythmogenic right ventricular dysplasia 9 | 609040 |
| PLA2G4A | 125.3 | 1 | 0.99 | Phospholipase A2, group IV A, deficiency of, | 600522 |
| PLA2G6 | 99.6 | 0.99 | 0.97 | Infantile neuroaxonal dystrophy 1 | 256600 |
| PLA2G6 | 99.6 | 0.99 | 0.97 | Neurodegeneration with brain iron accumulation 2B, | 610217 |
| PLA2G6 | 99.6 | 0.99 | 0.97 | Parkinson disease 14 autosomal recessive, | 612953 |
| PLA2G7 | 121.1 | 1 | 0.96 | Platelet-activating factor acetylhydrolase deficiency, | 614278 |
| PLA2G7 | 121.1 | 1 | 0.96 | {Asthma, susceptibility to}, | 600807 |
| PLA2G7 | 121.1 | 1 | 0.96 | {Atopy, susceptibility to}, | 147050 |
| PLAG1 | 194.8 | 1 | 1 | Adenomas, salivary gland pleomorphic, somatic, | 181030 |
| PLAU | 102.6 | 1 | 0.95 | Quebec platelet disorder, | 601709 |
| PLAU | 102.6 | 1 | 0.95 | {Alzheimer disease, late-onset, susceptibility to}, | 104300 |
| PLCB1 | 138.5 | 1 | 0.99 | Epileptic encephalopathy, early infantile, 12 | 613722 |
| PLCB4 | 123.4 | 0.99 | 0.93 | Auriculocondylar syndrome 2 | 614669 |
| PLCD1 | 103.2 | 0.99 | 0.95 | Nail disorder, nonsyndromic congenital, 3 (leukonychia), | 151600 |
| PLCE1 | 134 | 0.99 | 0.98 | Nephrotic syndrome, type 3 | 610725 |
| PLCG2 | 102 | 0.99 | 0.98 | Autoinflammation, antibody deficiency, and immune dysregulation syndrome, | 614878 |
| PLCG2 | 102 | 0.99 | 0.98 | Familial cold autoinflammatory syndrome 3 | 614468 |
| PLEC | 92.8 | 0.99 | 0.98 | Epidermolysis bullosa simplex with muscular dystrophy, | 226670 |
| PLEC | 92.8 | 0.99 | 0.98 | Epidermolysis bullosa simplex with pyloric atresia, | 612138 |
| PLEC | 92.8 | 0.99 | 0.98 | Epidermolysis bullosa simplex, Ogna type, | 131950 |
| PLEC | 92.8 | 0.99 | 0.98 | Muscular dystrophy, limb-girdle, type 2Q, | 613723 |
| PLEC | 92.8 | 0.99 | 0.98 | ?Epidermolysis bullosa simplex with nail dystrophy, | 616487 |
| PLEKHG2 | 105.7 | 1 | 0.99 | Leukodystrophy and acquired microcephaly with or without dystonia, | 616763 |
| PLEKHG5 | 77 | 0.93 | 0.86 | Charcot-Marie-Tooth disease, recessive intermediate C, | 615376 |
| PLEKHG5 | 77 | 0.93 | 0.86 | Spinal muscular atrophy, distal, autosomal recessive, 4 | 611067 |
| PLEKHM1 | 51 | 1 | 0.94 | Osteopetrosis, autosomal recessive 6 | 611497 |
| PLG | 102.8 | 0.87 | 0.85 | Dysplasminogenemia, | 217090 |
| PLG | 102.8 | 0.87 | 0.85 | Plasminogen deficiency, type I, | 217090 |
| PLIN1 | 74.6 | 0.97 | 0.84 | Lipodystrophy, familial partial, type 4 | 613877 |
| PLK4 | 131 | 0.98 | 0.95 | Microcephaly and chorioretinopathy, autosomal recessive, 2 | 616171 |
| PLN | 188.8 | 1 | 1 | Cardiomyopathy, dilated, 1P, | 609909 |
| PLN | 188.8 | 1 | 1 | Cardiomyopathy, hypertrophic, 18 | 613874 |
| PLOD1 | 119 | 0.99 | 0.97 | Ehlers-Danlos syndrome, type VI, | 225400 |
| PLOD2 | 102.5 | 0.98 | 0.9 | Bruck syndrome 2 | 609220 |
| PLOD3 | 101.8 | 1 | 0.99 | Lysyl hydroxylase 3 deficiency, | 612394 |
| PLP1 | 160.9 | 1 | 1 | Pelizaeus-Merzbacher disease, | 312080 |
| PLP1 | 160.9 | 1 | 1 | Spastic paraplegia 2 X-linked, | 312920 |
| PLS3 | 181.2 | 1 | 1 | Bone mineral density QTL18, osteoporosis, | 300910 |
| PML | 96.4 | 1 | 0.99 | Leukemia, acute promyelocytic, PML/RARA type | 300910 |
| PMM2 | 153.5 | 1 | 1 | Congenital disorder of glycosylation, type Ia, | 212065 |
| PMP22 | 91.6 | 0.9 | 0.88 | Charcot-Marie-Tooth disease, type 1A, | 118220 |
| PMP22 | 91.6 | 0.9 | 0.88 | Charcot-Marie-Tooth disease, type 1E, | 118300 |
| PMP22 | 91.6 | 0.9 | 0.88 | Dejerine-Sottas disease, | 145900 |
| PMP22 | 91.6 | 0.9 | 0.88 | Neuropathy, inflammatory demyelinating, | 139393 |
| PMP22 | 91.6 | 0.9 | 0.88 | Neuropathy, recurrent, with pressure palsies, | 162500 |
| PMP22 | 91.6 | 0.9 | 0.88 | Roussy-Levy syndrome, | 180800 |
| PMPCA | 111.3 | 0.94 | 0.91 | Spinocerebellar ataxia, autosomal recessive 2 | 213200 |
| PMS2 | 76.8 | 0.83 | 0.81 | Colorectal cancer, hereditary nonpolyposis, type 4 | 614337 |
| PMS2 | 76.8 | 0.83 | 0.81 | Mismatch repair cancer syndrome, | 276300 |
| PMVK | 104.6 | 1 | 0.96 | Porokeratosis 1 multiple types, | 175800 |
| PNKD | 90.2 | 1 | 0.96 | Paroxysmal nonkinesigenic dyskinesia, | 118800 |
| PNKP | 81 | 1 | 0.96 | Ataxia-oculomotor apraxia 4 | 616267 |
| PNKP | 81 | 1 | 0.96 | Microcephaly, seizures, and developmental delay, | 613402 |
| PNP | 122.8 | 1 | 1 | Immunodeficiency due to purine nucleoside phosphorylase deficiency, | 613179 |
| PNPLA1 | 146.1 | 0.99 | 0.98 | Ichthyosis, congenital, autosomal recessive 10 | 615024 |
| PNPLA2 | 101.3 | 1 | 0.96 | Neutral lipid storage disease with myopathy, | 610717 |
| PNPLA6 | 112.6 | 0.99 | 0.98 | Boucher-Neuhauser syndrome, | 215470 |
| PNPLA6 | 112.6 | 0.99 | 0.98 | Oliver-McFarlane syndrome, | 275400 |
| PNPLA6 | 112.6 | 0.99 | 0.98 | Spastic paraplegia 39 autosomal recessive, | 612020 |
| PNPLA6 | 112.6 | 0.99 | 0.98 | ?Laurence-Moon syndrome, | 245800 |
| PNPO | 63 | 1 | 0.96 | Pyridoxamine 5'-phosphate oxidase deficiency, | 610090 |
| PNPT1 | 46.4 | 0.93 | 0.81 | Combined oxidative phosphorylation deficiency 13 | 614932 |
| PNPT1 | 46.4 | 0.93 | 0.81 | Deafness, autosomal recessive 70 | 614934 |
| POC1A | 112.9 | 1 | 1 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, | 614813 |
| POC1B | 81.2 | 0.96 | 0.91 | Cone-rod dystrophy 20 | 615973 |
| POF1B | 100.9 | 0.93 | 0.88 | Premature ovarian failure 2B, | 300604 |
| POFUT1 | 118.6 | 1 | 1 | Dowling-Degos disease 2 | 615327 |
| POGLUT1 | 121.5 | 1 | 0.91 | Dowling-Degos disease 4 | 615696 |
| POGZ | 141.2 | 0.99 | 0.97 | White-Sutton syndrome, | 616364 |
| POLA1 | 147.9 | 1 | 0.98 | Pigmentary disorder, reticulate, with systemic manifestations, X-linked, | 301220 |
| POLD1 | 88.8 | 0.95 | 0.9 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, | 615381 |
| POLD1 | 88.8 | 0.95 | 0.9 | {Colorectal cancer, susceptibility to, 10}, | 612591 |
| POLE | 129 | 0.99 | 0.98 | FILS syndrome, | 615139 |
| POLE | 129 | 0.99 | 0.98 | {Colorectal cancer, susceptibility to, 12}, | 615083 |
| POLG | 100.7 | 1 | 1 | Mitochondrial DNA depletion syndrome 4A (Alpers type), | 203700 |
| POLG | 100.7 | 1 | 1 | Mitochondrial DNA depletion syndrome 4B (MNGIE type), | 613662 |
| POLG | 100.7 | 1 | 1 | Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), | 607459 |
| POLG | 100.7 | 1 | 1 | Progressive external ophthalmoplegia, autosomal dominant 1 | 157640 |
| POLG | 100.7 | 1 | 1 | Progressive external ophthalmoplegia, autosomal recessive 1 | 258450 |
| POLG2 | 143 | 0.99 | 0.97 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 610131 |
| POLH | 135.1 | 1 | 0.98 | Xeroderma pigmentosum, variant type, | 278750 |
| POLR1A | 108 | 0.99 | 0.97 | Acrofacial dysostosis, Cincinnati type, | 616462 |
| POLR1C | 108.2 | 0.99 | 0.95 | Leukodystrophy, hypomyelinating, 11 | 616494 |
| POLR1C | 108.2 | 0.99 | 0.95 | Treacher Collins syndrome 3 | 248390 |
| POLR1D | 162.2 | 1 | 1 | Treacher Collins syndrome 2 | 613717 |
| POLR3A | 126 | 1 | 0.99 | Leukodystrophy, hypomyelinating, 7 with or without oligodontia and/or hypogonadotropic | 613717 |
| POLR3A | 126 | 1 | 0.99 | hypogonadism, | 607694 |
| POLR3B | 135.8 | 1 | 0.97 | Leukodystrophy, hypomyelinating, 8 with or without oligodontia and/or hypogonadotropic | 607694 |
| POLR3B | 135.8 | 1 | 0.97 | hypogonadism, | 614381 |
| POMC | 84.6 | 1 | 1 | Obesity, adrenal insufficiency, and red hair due to POMC deficiency, | 609734 |
| POMC | 84.6 | 1 | 1 | {Obesity, early-onset, susceptibility to}, | 601665 |
| POMGNT1 | 100.3 | 0.98 | 0.92 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | 253280 |
| POMGNT1 | 100.3 | 0.98 | 0.92 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 | 613151 |
| POMGNT1 | 100.3 | 0.98 | 0.92 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | 613157 |
| POMGNT2 | 216.4 | 1 | 1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 | 614830 |
| POMK | 163.3 | 1 | 1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 | 615249 |
| POMK | 163.3 | 1 | 1 | ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 | 616094 |
| POMP | 118.1 | 0.86 | 0.85 | Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, | 601952 |
| POMT1 | 143.7 | 0.98 | 0.95 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | 236670 |
| POMT1 | 143.7 | 0.98 | 0.95 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 | 613155 |
| POMT1 | 143.7 | 0.98 | 0.95 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 | 609308 |
| POMT2 | 96.3 | 0.97 | 0.95 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | 613150 |
| POMT2 | 96.3 | 0.97 | 0.95 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 | 613156 |
| POMT2 | 96.3 | 0.97 | 0.95 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 | 613158 |
| POR | 126.9 | 1 | 1 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, | 201750 |
| POR | 126.9 | 1 | 1 | Disordered steroidogenesis due to cytochrome P450 oxidoreductase, | 613571 |
| PORCN | 142.7 | 1 | 1 | Focal dermal hypoplasia, | 305600 |
| POU1F1 | 107.3 | 0.99 | 0.9 | Pituitary hormone deficiency, combined, 1 | 613038 |
| POU3F4 | 141.1 | 1 | 1 | Deafness, X-linked 2 | 304400 |
| POU4F3 | 204.9 | 1 | 1 | Deafness, autosomal dominant 15 | 602459 |
| PPARG | 132.1 | 1 | 1 | Carotid intimal medial thickness 1 | 609338 |
| PPARG | 132.1 | 1 | 1 | Insulin resistance, severe, digenic, | 604367 |
| PPARG | 132.1 | 1 | 1 | Lipodystrophy, familial partial, type 3 | 604367 |
| PPARG | 132.1 | 1 | 1 | Obesity, severe, | 601665 |
| PPARG | 132.1 | 1 | 1 | [Obesity, resistance to] | 601665 |
| PPARG | 132.1 | 1 | 1 | {Diabetes, type 2}, | 125853 |
| PPIB | 102 | 1 | 1 | Osteogenesis imperfecta, type IX, | 259440 |
| PPM1D | 133.2 | 1 | 0.97 | Breast cancer, | 114480 |
| PPOX | 89.5 | 0.98 | 0.96 | Porphyria variegata, | 176200 |
| PPP1R15B | 120.5 | 0.99 | 0.97 | Microcephaly, short stature, and impaired glucose metabolism 2 | 616817 |
| PPP1R3A | 135.7 | 0.99 | 0.97 | Insulin resistance, severe, digenic, | 604367 |
| PPP2R1A | 119.7 | 0.93 | 0.91 | Mental retardation, autosomal dominant 36 | 616362 |
| PPP2R1B | 152 | 1 | 1 | Lung cancer, | 211980 |
| PPP2R2B | 136.1 | 1 | 0.99 | Spinocerebellar ataxia 12 | 604326 |
| PPP2R5D | 129.8 | 1 | 1 | Mental retardation, autosomal dominant 35 | 616355 |
| PPT1 | 153.9 | 1 | 1 | Ceroid lipofuscinosis, neuronal, 1 | 256730 |
| PQBP1 | 181.6 | 0.97 | 0.97 | Renpenning syndrome, | 309500 |
| PRCC | 108.6 | 0.98 | 0.9 | Renal cell carcinoma, papillary, | 605074 |
| PRCD | 86.5 | 1 | 1 | Retinitis pigmentosa 36 | 610599 |
| PRDM12 | 92.4 | 0.88 | 0.8 | Neuropathy, hereditary sensory and autonomic, type VIII, | 616488 |
| PRDM16 | 136.9 | 0.99 | 0.98 | Cardiomyopathy, dilated, 1LL, | 615373 |
| PRDM16 | 136.9 | 0.99 | 0.98 | Left ventricular noncompaction 8 | 615373 |
| PRDM5 | 113.6 | 0.97 | 0.91 | Brittle cornea syndrome 2 | 614170 |
| PRDM6 | 78.4 | 0.81 | 0.73 | Patent ductus arteriosus 3 | 617039 |
| PRF1 | 102.5 | 1 | 0.98 | Aplastic anemia, | 609135 |
| PRF1 | 102.5 | 1 | 0.98 | Hemophagocytic lymphohistiocytosis, familial, 2 | 603553 |
| PRF1 | 102.5 | 1 | 0.98 | Lymphoma, non-Hodgkin, | 605027 |
| PRG4 | 123.9 | 0.95 | 0.83 | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, | 208250 |
| PRICKLE1 | 109.8 | 1 | 1 | Epilepsy, progressive myoclonic 1B, | 612437 |
| PRIMPOL | 98.1 | 0.94 | 0.9 | Myopia 22,autosomal dominant, | 615420 |
| PRKAG2 | 122.6 | 0.97 | 0.86 | Cardiomyopathy, hypertrophic 6 | 600858 |
| PRKAG2 | 122.6 | 0.97 | 0.86 | Glycogen storage disease of heart, lethal congenital, | 261740 |
| PRKAG2 | 122.6 | 0.97 | 0.86 | Wolff-Parkinson-White syndrome, | 194200 |
| PRKAR1A | 82.3 | 1 | 0.91 | Acrodysostosis 1 with or without hormone resistance, | 101800 |
| PRKAR1A | 82.3 | 1 | 0.91 | Adrenocortical tumor, somatic, | 101800 |
| PRKAR1A | 82.3 | 1 | 0.91 | Carney complex, type 1 | 160980 |
| PRKAR1A | 82.3 | 1 | 0.91 | Myxoma, intracardiac, | 255960 |
| PRKAR1A | 82.3 | 1 | 0.91 | Pigmented nodular adrenocortical disease, primary, 1 | 610489 |
| PRKCA | 153.3 | 1 | 1 | Pituitary tumor, invasive | 610489 |
| PRKCD | 164.2 | 1 | 1 | Autoimmune lymphoproliferative syndrome, type III, | 615559 |
| PRKCG | 101.6 | 0.97 | 0.92 | Spinocerebellar ataxia 14 | 605361 |
| PRKCSH | 113.8 | 0.99 | 0.87 | Polycystic liver disease, | 174050 |
| PRKDC | 94.7 | 0.97 | 0.92 | Immunodeficiency 26 with or without neurologic abnormalities, | 615966 |
| PRKG1 | 105.8 | 0.99 | 0.86 | Aortic aneurysm, familial thoracic 8 | 615436 |
| PRKRA | 127.6 | 1 | 0.99 | Dystonia 16 | 612067 |
| PRLR | 130.5 | 1 | 1 | Multiple fibroadenomas of the breast, | 615554 |
| PRLR | 130.5 | 1 | 1 | ?Hyperprolactinemia, | 615555 |
| PRNP | 140.1 | 1 | 1 | Cerebral amyloid angiopathy, PRNP-related, | 137440 |
| PRNP | 140.1 | 1 | 1 | Creutzfeldt-Jakob disease, | 123400 |
| PRNP | 140.1 | 1 | 1 | Gerstmann-Straussler disease, | 137440 |
| PRNP | 140.1 | 1 | 1 | Huntington disease-like 1 | 603218 |
| PRNP | 140.1 | 1 | 1 | Insomnia, fatal familial, | 600072 |
| PRNP | 140.1 | 1 | 1 | Prion disease with protracted course, | 606688 |
| PRNP | 140.1 | 1 | 1 | {Kuru, susceptibility to}, | 245300 |
| PROC | 111.4 | 0.99 | 0.94 | Thrombophilia due to protein C deficiency, autosomal dominant, | 176860 |
| PROC | 111.4 | 0.99 | 0.94 | Thrombophilia due to protein C deficiency, autosomal recessive, | 612304 |
| PRODH | 102.3 | 0.84 | 0.82 | Hyperprolinemia, type I, | 239500 |
| PRODH | 102.3 | 0.84 | 0.82 | {Schizophrenia, susceptibility to, 4}, | 600850 |
| PROK2 | 74.9 | 0.97 | 0.89 | Hypogonadotropic hypogonadism 4 with or without anosmia, | 610628 |
| PROKR2 | 284.6 | 1 | 1 | Hypogonadotropic hypogonadism 3 with or without anosmia, | 244200 |
| PROM1 | 111.1 | 0.96 | 0.92 | Cone-rod dystrophy 12 | 612657 |
| PROM1 | 111.1 | 0.96 | 0.92 | Macular dystrophy, retinal, 2 | 608051 |
| PROM1 | 111.1 | 0.96 | 0.92 | Retinitis pigmentosa 41 | 612095 |
| PROM1 | 111.1 | 0.96 | 0.92 | Stargardt disease 4 | 603786 |
| PROP1 | 92.5 | 0.91 | 0.87 | Pituitary hormone deficiency, combined, 2 | 262600 |
| PROS1 | 68.4 | 0.96 | 0.91 | Thrombophilia due to protein S deficiency, autosomal dominant, | 612336 |
| PROS1 | 68.4 | 0.96 | 0.91 | Thrombophilia due to protein S deficiency, autosomal recessive, | 614514 |
| PRPF3 | 74.7 | 0.97 | 0.92 | Retinitis pigmentosa 18 | 601414 |
| PRPF31 | 99.2 | 1 | 0.94 | Retinitis pigmentosa 11 | 600138 |
| PRPF4 | 137.2 | 1 | 0.97 | Retinitis pigmentosa 70 | 615922 |
| PRPF6 | 114.3 | 1 | 1 | Retinitis pigmentosa 60 | 613983 |
| PRPF8 | 121.5 | 0.99 | 0.97 | Retinitis pigmentosa 13 | 600059 |
| PRPH2 | 202.7 | 1 | 1 | Choriodal dystrophy, central areolar 2 | 613105 |
| PRPH2 | 202.7 | 1 | 1 | Leber congenital amaurosis 18 | 608133 |
| PRPH2 | 202.7 | 1 | 1 | Macular dystrophy, patterned, 1 | 169150 |
| PRPH2 | 202.7 | 1 | 1 | Macular dystrophy, vitelliform, 3 | 608161 |
| PRPH2 | 202.7 | 1 | 1 | Retinitis pigmentosa 7 and digenic, | 608133 |
| PRPH2 | 202.7 | 1 | 1 | Retinitis punctata albescens, | 136880 |
| PRPS1 | 200.6 | 1 | 1 | Arts syndrome, | 301835 |
| PRPS1 | 200.6 | 1 | 1 | Charcot-Marie-Tooth disease, X-linked recessive, 5 | 311070 |
| PRPS1 | 200.6 | 1 | 1 | Deafness, X-linked 1 | 304500 |
| PRPS1 | 200.6 | 1 | 1 | Gout, PRPS-related, | 300661 |
| PRPS1 | 200.6 | 1 | 1 | Phosphoribosylpyrophosphate synthetase superactivity, | 300661 |
| PRRT2 | 66.3 | 0.97 | 0.96 | Convulsions, familial infantile, with paroxysmal choreoathetosis, | 602066 |
| PRRT2 | 66.3 | 0.97 | 0.96 | Episodic kinesigenic dyskinesia 1 | 128200 |
| PRRT2 | 66.3 | 0.97 | 0.96 | Seizures, benign familial infantile, 2 | 605751 |
| PRRX1 | 75.6 | 1 | 1 | Agnathia-otocephaly complex, | 202650 |
| PRSS1 | 166.1 | 1 | 1 | Pancreatitis, hereditary, | 167800 |
| PRSS1 | 166.1 | 1 | 1 | Trypsinogen deficiency, | 614044 |
| PRSS12 | 122.2 | 0.99 | 0.96 | Mental retardation, autosomal recessive 1 | 249500 |
| PRSS56 | 45.7 | 0.92 | 0.81 | Microphthalmia, isolated 6 | 613517 |
| PRX | 86.4 | 1 | 0.99 | Charcot-Marie-Tooth disease, type 4F, | 614895 |
| PRX | 86.4 | 1 | 0.99 | Dejerine-Sottas disease, | 145900 |
| PSAP | 96.8 | 0.99 | 0.95 | Combined SAP deficiency, | 611721 |
| PSAP | 96.8 | 0.99 | 0.95 | Gaucher disease, atypical, | 610539 |
| PSAP | 96.8 | 0.99 | 0.95 | Krabbe disease, atypical, | 611722 |
| PSAP | 96.8 | 0.99 | 0.95 | Metachromatic leukodystrophy due to SAP-b deficiency, | 249900 |
| PSAT1 | 40.7 | 0.8 | 0.7 | Neu-Laxova syndrome 2 | 616038 |
| PSAT1 | 40.7 | 0.8 | 0.7 | ?Phosphoserine aminotransferase deficiency, | 610992 |
| PSEN1 | 129.3 | 1 | 0.99 | Acne inversa, familial, 3 | 613737 |
| PSEN1 | 129.3 | 1 | 0.99 | Alzheimer disease, type 3 | 607822 |
| PSEN1 | 129.3 | 1 | 0.99 | Alzheimer disease, type 3 with spastic paraparesis and apraxia, | 607822 |
| PSEN1 | 129.3 | 1 | 0.99 | Alzheimer disease, type 3 with spastic paraparesis and unusual plaques, | 607822 |
| PSEN1 | 129.3 | 1 | 0.99 | Cardiomyopathy, dilated, 1U, | 613694 |
| PSEN1 | 129.3 | 1 | 0.99 | Dementia, frontotemporal, | 600274 |
| PSEN1 | 129.3 | 1 | 0.99 | Pick disease, | 172700 |
| PSEN2 | 114.1 | 1 | 1 | Alzheimer disease-4, | 606889 |
| PSEN2 | 114.1 | 1 | 1 | Cardiomyopathy, dilated, 1V, | 613697 |
| PSENEN | 60.7 | 1 | 1 | Acne inversa, familial, 2 | 613736 |
| PSMB8 | 15.1 | 0.45 | 0.32 | Autoinflammation, lipodystrophy, and dermatosis syndrome, | 256040 |
| PSMC3IP | 98.4 | 1 | 0.94 | Ovarian dysgenesis 3 | 614324 |
| PSPH | 109 | 1 | 0.96 | Phosphoserine phosphatase deficiency, | 614023 |
| PSTPIP1 | 78.4 | 1 | 0.91 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, | 604416 |
| PTCH1 | 109.5 | 0.98 | 0.95 | Basal cell carcinoma, somatic, | 605462 |
| PTCH1 | 109.5 | 0.98 | 0.95 | Basal cell nevus syndrome, | 109400 |
| PTCH1 | 109.5 | 0.98 | 0.95 | Holoprosencephaly-7, | 610828 |
| PTCH2 | 95.5 | 0.98 | 0.95 | Basal cell carcinoma, somatic, | 605462 |
| PTCH2 | 95.5 | 0.98 | 0.95 | Basal cell nevus syndrome, | 109400 |
| PTCH2 | 95.5 | 0.98 | 0.95 | Medulloblastoma, | 155255 |
| PTDSS1 | 121.7 | 1 | 1 | Lenz-Majewski hyperostotic dwarfism, | 151050 |
| PTEN | 120.7 | 1 | 0.99 | Bannayan-Riley-Ruvalcaba syndrome, | 153480 |
| PTEN | 120.7 | 1 | 0.99 | Cowden syndrome 1 | 158350 |
| PTEN | 120.7 | 1 | 0.99 | Endometrial carcinoma, somatic, | 608089 |
| PTEN | 120.7 | 1 | 0.99 | Lhermitte-Duclos syndrome, | 158350 |
| PTEN | 120.7 | 1 | 0.99 | Macrocephaly/autism syndrome, | 605309 |
| PTEN | 120.7 | 1 | 0.99 | Malignant melanoma, somatic, | 155600 |
| PTEN | 120.7 | 1 | 0.99 | PTEN hamartoma tumor syndrome | 155600 |
| PTEN | 120.7 | 1 | 0.99 | Squamous cell carcinoma, head and neck, somatic, | 275355 |
| PTEN | 120.7 | 1 | 0.99 | VATER association with macrocephaly and ventriculomegaly, | 276950 |
| PTEN | 120.7 | 1 | 0.99 | {Glioma susceptibility 2}, | 613028 |
| PTEN | 120.7 | 1 | 0.99 | {Meningioma}, | 607174 |
| PTEN | 120.7 | 1 | 0.99 | {Prostate cancer, somatic}, | 176807 |
| PTF1A | 67.3 | 0.83 | 0.74 | Pancreatic agenesis 2 | 615935 |
| PTF1A | 67.3 | 0.83 | 0.74 | Pancreatic and cerebellar agenesis, | 609069 |
| PTGIS | 104.9 | 0.97 | 0.95 | Hypertension, essential, | 145500 |
| PTH | 105.6 | 1 | 0.99 | Hypoparathyroidism, autosomal dominant, | 146200 |
| PTH | 105.6 | 1 | 0.99 | Hypoparathyroidism, autosomal recessive, | 146200 |
| PTH1R | 87.2 | 0.99 | 0.98 | Chondrodysplasia, Blomstrand type, | 215045 |
| PTH1R | 87.2 | 0.99 | 0.98 | Eiken syndrome, | 600002 |
| PTH1R | 87.2 | 0.99 | 0.98 | Failure of tooth eruption, primary, | 125350 |
| PTH1R | 87.2 | 0.99 | 0.98 | Metaphyseal chondrodysplasia, Murk Jansen type, | 156400 |
| PTHLH | 117.9 | 1 | 0.82 | Brachydactyly, type E2, | 613382 |
| PTHLH | 117.9 | 1 | 0.82 | Humoral hypercalcemia of malignancy | 613382 |
| PTPN11 | 74.9 | 0.96 | 0.86 | LEOPARD syndrome 1 | 151100 |
| PTPN11 | 74.9 | 0.96 | 0.86 | Leukemia, juvenile myelomonocytic, somatic, | 607785 |
| PTPN11 | 74.9 | 0.96 | 0.86 | Metachondromatosis, | 156250 |
| PTPN11 | 74.9 | 0.96 | 0.86 | Noonan syndrome 1 | 163950 |
| PTPN12 | 122.5 | 0.95 | 0.9 | Colon cancer, somatic, | 114500 |
| PTPN14 | 158.2 | 0.98 | 0.97 | Choanal atresia and lymphedema, | 613611 |
| PTPRC | 91.6 | 0.89 | 0.8 | Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, | 608971 |
| PTPRC | 91.6 | 0.89 | 0.8 | {Hepatitic C virus, susceptibility to}, | 609532 |
| PTPRJ | 150.7 | 0.96 | 0.95 | Colon cancer, somatic, | 114500 |
| PTPRO | 137 | 0.99 | 0.98 | Nephrotic syndrome, type 6 | 614196 |
| PTPRQ | 98.6 | 0.9 | 0.87 | Deafness, autosomal recessive 84A, | 613391 |
| PTRF | 107.4 | 1 | 0.98 | Lipodystrophy, congenital generalized, type 4 | 613327 |
| PTRH2 | 237.1 | 1 | 1 | Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, | 616263 |
| PTS | 94.2 | 0.94 | 0.83 | Hyperphenylalaninemia, BH4-deficient, A, | 261640 |
| PUF60 | 142.8 | 1 | 0.96 | Verheij syndrome, | 615583 |
| PURA | 117.2 | 1 | 0.91 | Mental retardation, autosomal dominant 31 | 616158 |
| PUS1 | 126 | 1 | 0.95 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | 600462 |
| PVRL1 | 130.8 | 1 | 1 | Cleft lip/palate-ectodermal dysplasia syndrome, | 225060 |
| PVRL1 | 130.8 | 1 | 1 | Orofacial cleft 7 | 225060 |
| PVRL4 | 118.8 | 1 | 0.98 | Ectodermal dysplasia-syndactyly syndrome 1 | 613573 |
| PXDN | 143 | 0.99 | 0.98 | Corneal opacification and other ocular anomalies, | 269400 |
| PYCR1 | 82.7 | 0.97 | 0.95 | Cutis laxa, autosomal recessive, type IIB, | 612940 |
| PYCR1 | 82.7 | 0.97 | 0.95 | Cutis laxa, autosomal recessive, type IIIB, | 614438 |
| PYCR2 | 113.8 | 1 | 0.95 | Leukodystrophy, hypomyelinating, 10 | 616420 |
| PYGL | 148.1 | 1 | 1 | Glycogen storage disease VI, | 232700 |
| PYGM | 123.6 | 1 | 0.99 | McArdle disease, | 232600 |
| QARS | 128.6 | 1 | 0.99 | Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, | 615760 |
| QDPR | 65.9 | 1 | 1 | Hyperphenylalaninemia, BH4-deficient, C, | 261630 |
| RAB18 | 81.2 | 0.99 | 0.78 | Warburg micro syndrome 3 | 614222 |
| RAB23 | 105.2 | 1 | 0.99 | Carpenter syndrome, | 201000 |
| RAB27A | 137.7 | 1 | 1 | Griscelli syndrome, type 2 | 607624 |
| RAB28 | 49.9 | 0.99 | 0.85 | Cone-rod dystrophy 18 | 615374 |
| RAB33B | 206 | 1 | 1 | Smith-McCort dysplasia 2 | 615222 |
| RAB39B | 144.1 | 1 | 1 | Mental retardation, X-linked 72 | 300271 |
| RAB39B | 144.1 | 1 | 1 | ?Waisman syndrome, | 311510 |
| RAB3GAP1 | 112.3 | 0.99 | 0.96 | Warburg micro syndrome 1 | 600118 |
| RAB3GAP2 | 84.5 | 0.97 | 0.91 | Martsolf syndrome, | 212720 |
| RAB3GAP2 | 84.5 | 0.97 | 0.91 | Warburg micro syndrome 2 | 614225 |
| RAB7A | 135.9 | 1 | 1 | Charcot-Marie-Tooth disease,type 2B, | 600882 |
| RAC2 | 106.4 | 1 | 1 | Neutrophil immunodeficiency syndrome, | 608203 |
| RAD21 | 84.4 | 0.99 | 0.94 | Cornelia de Lange syndrome 4 | 614701 |
| RAD50 | 88.5 | 0.93 | 0.88 | Nijmegen breakage syndrome-like disorder, | 613078 |
| RAD51 | 122.7 | 0.89 | 0.89 | Mirror movements 2 | 614508 |
| RAD51 | 122.7 | 0.89 | 0.89 | {Breast cancer, susceptibility to}, | 114480 |
| RAD51C | 121.9 | 1 | 1 | Fanconi anemia, complementation group O, | 613390 |
| RAD51C | 121.9 | 1 | 1 | {Breast-ovarian cancer, familial, susceptibility to, 3}, | 613399 |
| RAD54B | 87.9 | 0.95 | 0.85 | Colon cancer, somatic, | 114500 |
| RAD54B | 87.9 | 0.95 | 0.85 | Lymphoma, non-Hodgkin, somatic, | 605027 |
| RAD54L | 97.9 | 0.99 | 0.97 | Adenocarcinoma, colonic, somatic | 605027 |
| RAD54L | 97.9 | 0.99 | 0.97 | Lymphoma, non-Hodgkin, somatic, | 605027 |
| RAD54L | 97.9 | 0.99 | 0.97 | {Breast cancer, invasive ductal}, | 114480 |
| RAF1 | 105.4 | 1 | 1 | Cardiomyopathy, dilated, 1NN, | 615916 |
| RAF1 | 105.4 | 1 | 1 | LEOPARD syndrome 2 | 611554 |
| RAF1 | 105.4 | 1 | 1 | Noonan syndrome 5 | 611553 |
| RAG1 | 183.4 | 1 | 1 | Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and | 611553 |
| RAG1 | 183.4 | 1 | 1 | autoimmunity, | 609889 |
| RAG1 | 183.4 | 1 | 1 | Combined cellular and humoral immune defects with granulomas, | 233650 |
| RAG1 | 183.4 | 1 | 1 | Omenn syndrome, | 603554 |
| RAG1 | 183.4 | 1 | 1 | Severe combined immunodeficiency, B cell-negative, | 601457 |
| RAG2 | 214.7 | 1 | 1 | Combined cellular and humoral immune defects with granulomas, | 233650 |
| RAG2 | 214.7 | 1 | 1 | Omenn syndrome, | 603554 |
| RAG2 | 214.7 | 1 | 1 | Severe combined immunodeficiency, B cell-negative, | 601457 |
| RAI1 | 111 | 0.99 | 0.99 | Smith-Magenis syndrome, | 182290 |
| RAP1GDS1 | 81.5 | 0.98 | 0.86 | Lymphocytic leukemia, acute T-cell | 182290 |
| RAPSN | 105.8 | 0.93 | 0.93 | Fetal akinesia deformation sequence, | 208150 |
| RAPSN | 105.8 | 0.93 | 0.93 | Myasthenic syndrome, congenital, 11 associated with acetylcholine receptor deficiency, | 616326 |
| RARB | 118.7 | 1 | 1 | Microphthalmia, syndromic 12 | 615524 |
| RARS | 76.7 | 0.98 | 0.92 | Leukodystrophy, hypomyelinating, 9 | 616140 |
| RARS2 | 100.2 | 0.99 | 0.96 | Pontocerebellar hypoplasia, type 6 | 611523 |
| RASA1 | 88.7 | 0.93 | 0.79 | Basal cell carcinoma, somatic, | 605462 |
| RASA1 | 88.7 | 0.93 | 0.79 | Capillary malformation-arteriovenous malformation, | 608354 |
| RASA1 | 88.7 | 0.93 | 0.79 | Parkes Weber syndrome, | 608355 |
| RAX | 73.4 | 0.91 | 0.81 | Microphthalmia, isolated 3 | 611038 |
| RAX2 | 51.9 | 0.99 | 0.78 | Macular degeneration, age-related, 6 | 613757 |
| RAX2 | 51.9 | 0.99 | 0.78 | ?Cone-rod dystrophy 11 | 610381 |
| RB1 | 75.2 | 0.9 | 0.75 | Bladder cancer, somatic, | 109800 |
| RB1 | 75.2 | 0.9 | 0.75 | Osteosarcoma, somatic, | 259500 |
| RB1 | 75.2 | 0.9 | 0.75 | Retinoblastoma, | 180200 |
| RB1 | 75.2 | 0.9 | 0.75 | Retinoblastoma, trilateral, | 180200 |
| RB1 | 75.2 | 0.9 | 0.75 | Small cell cancer of the lung, somatic, | 182280 |
| RB1CC1 | 104.7 | 0.94 | 0.87 | Breast cancer, somatic, | 114480 |
| RBBP8 | 95.8 | 0.99 | 0.94 | Jawad syndrome, | 251255 |
| RBBP8 | 95.8 | 0.99 | 0.94 | Pancreatic carcinoma, somatic | 251255 |
| RBBP8 | 95.8 | 0.99 | 0.94 | Seckel syndrome 2 | 606744 |
| RBCK1 | 92.4 | 0.98 | 0.94 | Polyglucosan body myopathy 1 with or without immunodeficiency, | 615895 |
| RBM10 | 122.1 | 1 | 0.99 | TARP syndrome, | 311900 |
| RBM20 | 154.3 | 0.99 | 0.95 | Cardiomyopathy, dilated, 1DD, | 613172 |
| RBM8A | 100.8 | 1 | 0.95 | Thrombocytopenia-absent radius syndrome, | 274000 |
| RBP4 | 93.1 | 0.93 | 0.89 | Microphthalmia, isolated, with coloboma 10 | 616428 |
| RBP4 | 93.1 | 0.93 | 0.89 | Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, | 615147 |
| RBPJ | 67.2 | 0.87 | 0.76 | Adams-Oliver syndrome 3 | 614814 |
| RD3 | 142 | 1 | 1 | Leber congenital amaurosis 12 | 610612 |
| RDH12 | 78.5 | 0.97 | 0.91 | Leber congenital amaurosis 13 | 612712 |
| RDH5 | 148.7 | 1 | 1 | Fundus albipunctatus, | 136880 |
| RDX | 35.3 | 0.66 | 0.55 | Deafness, autosomal recessive 24 | 611022 |
| RECQL4 | 127.6 | 0.97 | 0.96 | Baller-Gerold syndrome, | 218600 |
| RECQL4 | 127.6 | 0.97 | 0.96 | RAPADILINO syndrome, | 266280 |
| RECQL4 | 127.6 | 0.97 | 0.96 | Rothmund-Thomson syndrome, | 268400 |
| REEP1 | 91.3 | 1 | 0.95 | Spastic paraplegia 31 autosomal dominant, | 610250 |
| REEP1 | 91.3 | 1 | 0.95 | ?Neuronopathy, distal hereditary motor, type VB, | 614751 |
| RELN | 147 | 1 | 0.99 | Lissencephaly 2 (Norman-Roberts type), | 257320 |
| RELN | 147 | 1 | 0.99 | {Epilepsy, familial temporal lobe, 7}, | 616436 |
| REN | 134 | 1 | 1 | Hyperuricemic nephropathy, familial juvenile 2 | 613092 |
| REN | 134 | 1 | 1 | Renal tubular dysgenesis, | 267430 |
| REN | 134 | 1 | 1 | [Hyperproreninemia] | 267430 |
| RERE | 67.5 | 0.96 | 0.91 | Neurodevelopmental disorder with or without anomalies of the brain,eye or heart, | 616975 |
| RET | 127.8 | 0.98 | 0.96 | Central hypoventilation syndrome, congenital, | 209880 |
| RET | 127.8 | 0.98 | 0.96 | Medullary thyroid carcinoma, | 155240 |
| RET | 127.8 | 0.98 | 0.96 | Multiple endocrine neoplasia IIA, | 171400 |
| RET | 127.8 | 0.98 | 0.96 | Multiple endocrine neoplasia IIB, | 162300 |
| RET | 127.8 | 0.98 | 0.96 | Pheochromocytoma, | 171300 |
| RET | 127.8 | 0.98 | 0.96 | {Hirschsprung disease, susceptibility to, 1}, | 142623 |
| RFT1 | 97.6 | 1 | 0.95 | Congenital disorder of glycosylation, type In, | 612015 |
| RFX5 | 93.9 | 0.98 | 0.95 | Bare lymphocyte syndrome, type II, complementation group C, | 209920 |
| RFX5 | 93.9 | 0.98 | 0.95 | Bare lymphocyte syndrome, type II, complementation group E, | 209920 |
| RFX6 | 135.6 | 1 | 1 | Mitchell-Riley syndrome, | 615710 |
| RFXANK | 97.7 | 1 | 1 | MHC class II deficiency, complementation group B, | 209920 |
| RFXAP | 100.9 | 0.94 | 0.93 | Bare lymphocyte syndrome, type II, complementation group D, | 209920 |
| RGR | 111.5 | 1 | 1 | Retinitis pigmentosa 44 | 613769 |
| RGS9 | 91.2 | 1 | 0.94 | Bradyopsia, | 608415 |
| RGS9BP | 65.8 | 1 | 0.99 | Bradyopsia, | 608415 |
| RHAG | 147.5 | 1 | 0.96 | Anemia, hemolytic, Rh-null, regulator type, | 268150 |
| RHAG | 147.5 | 1 | 0.96 | Overhydrated hereditary stomatocytosis, | 185000 |
| RHAG | 147.5 | 1 | 0.96 | Rh-mod syndrome | 185000 |
| RHBDF2 | 92.3 | 0.97 | 0.95 | Tylosis with esophageal cancer, | 148500 |
| RHCE | 153 | 0.99 | 0.99 | Rh-null disease, amorph type, | 111700 |
| RHCE | 153 | 0.99 | 0.99 | [Blood group, Rhesus], | 111690 |
| RHO | 186.4 | 1 | 1 | Night blindness, congenital stationary, autosomal dominant 1 | 610445 |
| RHO | 186.4 | 1 | 1 | Retinitis pigmentosa 4 autosomal dominant or recessive, | 613731 |
| RHO | 186.4 | 1 | 1 | Retinitis punctata albescens, | 136880 |
| RIMS1 | 102.9 | 0.99 | 0.94 | Cone-rod dystrophy 7 | 603649 |
| RIN2 | 96.2 | 1 | 0.99 | Macrocephaly, alopecia, cutis laxa, and scoliosis, | 613075 |
| RIPK4 | 125.9 | 1 | 0.99 | Popliteal pterygium syndrome, Bartsocas-Papas type, | 263650 |
| RIT1 | 145.2 | 1 | 1 | Noonan syndrome 8 | 615355 |
| RLBP1 | 109.6 | 1 | 1 | Bothnia retinal dystrophy, | 607475 |
| RLBP1 | 109.6 | 1 | 1 | Fundus albipunctatus, | 136880 |
| RLBP1 | 109.6 | 1 | 1 | Newfoundland rod-cone dystrophy, | 607476 |
| RLBP1 | 109.6 | 1 | 1 | Retinitis punctata albescens, | 136880 |
| RLIM | 140.4 | 1 | 1 | Mental Retardation, X-linked 61 | 300978 |
| RMND1 | 117.8 | 0.99 | 0.96 | Combined oxidative phosphorylation deficiency 11 | 614922 |
| RMND1 | 117.8 | 0.99 | 0.96 | RMRP NC NC NC Anauxetic dysplasia, | 607095 |
| RMND1 | 117.8 | 0.99 | 0.96 | Cartilage-hair hypoplasia, | 250250 |
| RMND1 | 117.8 | 0.99 | 0.96 | Metaphyseal dysplasia without hypotrichosis, | 250460 |
| RNASEH1 | 92 | 0.94 | 0.91 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | 616479 |
| RNASEH2A | 111.1 | 1 | 0.99 | Aicardi-Goutieres syndrome 4 | 610333 |
| RNASEH2B | 101.2 | 0.9 | 0.87 | Aicardi-Goutieres syndrome 2 | 610181 |
| RNASEH2C | 156.2 | 1 | 0.99 | Aicardi-Goutieres syndrome 3 | 610329 |
| RNASEL | 121.7 | 0.99 | 0.98 | Prostate cancer 1 | 601518 |
| RNASET2 | 73.7 | 0.93 | 0.85 | Leukoencephalopathy, cystic, without megalencephaly, | 612951 |
| RNF125 | 148.2 | 1 | 0.98 | Tenorio syndrome, | 616260 |
| RNF135 | 69 | 0.93 | 0.87 | Macrocephaly, macrosomia, facial dysmorphism syndrome, | 614192 |
| RNF139 | 199.9 | 1 | 1 | Renal cell carcinoma, | 144700 |
| RNF168 | 202.2 | 1 | 0.98 | RIDDLE syndrome, | 611943 |
| RNF170 | 112.1 | 0.96 | 0.93 | Ataxia, sensory, 1 autosomal dominant, | 608984 |
| RNF212 | 100.9 | 0.99 | 0.95 | Recombination rate QTL 1 | 612042 |
| RNF216 | 122.4 | 0.99 | 0.95 | Cerebellar ataxia and hypogonadotropic hypogonadism, | 212840 |
| RNF6 | 175.3 | 1 | 1 | Esophageal carcinoma, somatic, | 133239 |
| RNF6 | 175.3 | 1 | 1 | RNU4ATAC NC NC NC Microcephalic osteodysplastic primordial dwarfism, type I, | 210710 |
| RNF6 | 175.3 | 1 | 1 | Roifman syndrome, | 616651 |
| ROBO2 | 127.4 | 0.97 | 0.96 | Vesicoureteral reflux 2 | 610878 |
| ROBO3 | 84.9 | 0.98 | 0.93 | Gaze palsy, horizontal, with progressive scoliosis, | 607313 |
| ROGDI | 106.5 | 0.95 | 0.94 | Kohlschutter-Tonz syndrome, | 226750 |
| ROM1 | 100.9 | 1 | 0.98 | Retinitis pigmentosa 7 digenic, | 608133 |
| ROR2 | 153.6 | 0.99 | 0.98 | Brachydactyly, type B1, | 113000 |
| ROR2 | 153.6 | 0.99 | 0.98 | Robinow syndrome, autosomal recessive, | 268310 |
| RORC | 114 | 1 | 0.99 | Immunodeficiency 42 | 616622 |
| RP1 | 112.7 | 1 | 0.98 | Retinitis pigmentosa 1 | 180100 |
| RP1L1 | 86.7 | 1 | 0.99 | Occult macular dystrophy, | 613587 |
| RP2 | 213.4 | 1 | 1 | Retinitis pigmentosa 2 | 312600 |
| RPE65 | 122.8 | 0.99 | 0.98 | Leber congenital amaurosis 2 | 204100 |
| RPE65 | 122.8 | 0.99 | 0.98 | Retinitis pigmentosa 20 | 613794 |
| RPGR | 108.1 | 0.85 | 0.78 | Cone-rod dystrophy, X-linked, 1 | 304020 |
| RPGR | 108.1 | 0.85 | 0.78 | Macular degeneration, X-linked atrophic, | 300834 |
| RPGR | 108.1 | 0.85 | 0.78 | Retinitis pigmentosa 3 | 300029 |
| RPGR | 108.1 | 0.85 | 0.78 | Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, | 300455 |
| RPGRIP1 | 132.6 | 1 | 0.99 | Cone-rod dystrophy 13 | 608194 |
| RPGRIP1 | 132.6 | 1 | 0.99 | Leber congenital amaurosis 6 | 613826 |
| RPGRIP1L | 128.5 | 0.96 | 0.93 | COACH syndrome, | 216360 |
| RPGRIP1L | 128.5 | 0.96 | 0.93 | Joubert syndrome 7 | 611560 |
| RPGRIP1L | 128.5 | 0.96 | 0.93 | Meckel syndrome 5 | 611561 |
| RPL11 | 83.9 | 1 | 0.99 | Diamond-Blackfan anemia 7 | 612562 |
| RPL21 | 72.1 | 0.8 | 0.65 | Hypotrichosis 12 | 615885 |
| RPL35A | 59.2 | 0.93 | 0.81 | Diamond-Blackfan anemia 5 | 612528 |
| RPL5 | 30.2 | 0.69 | 0.55 | Diamond-Blackfan anemia 6 | 612561 |
| RPS10 | 97.4 | 0.99 | 0.89 | Diamond-Blackfan anemia 9 | 613308 |
| RPS14 | 111.1 | 0.96 | 0.92 | Macrocytic anemia, refractory, due to 5q deletion, somatic, | 153550 |
| RPS17 | 40.6 | 0.69 | 0.69 | Diamond-Blackfan anemia 4 | 612527 |
| RPS19 | 66.2 | 1 | 0.99 | Diamond-Blackfan anemia 1 | 105650 |
| RPS24 | 88.7 | 0.87 | 0.87 | Diamond-blackfan anemia 3 | 610629 |
| RPS26 | 77 | 0.99 | 0.91 | Diamond-Blackfan anemia 10 | 613309 |
| RPS28 | 34.8 | 0.93 | 0.82 | Diamond Blackfan anemia 15 with mandibulofacial dysostosis, | 606164 |
| RPS29 | 57.5 | 0.99 | 0.93 | Diamond-Blackfan anemia 13 | 615909 |
| RPS6KA3 | 98.8 | 0.98 | 0.93 | Coffin-Lowry syndrome, | 303600 |
| RPS6KA3 | 98.8 | 0.98 | 0.93 | Mental retardation, X-linked 19 | 300844 |
| RPS7 | 89.7 | 0.86 | 0.63 | Diamond-Blackfan anemia 8 | 612563 |
| RPSA | 62 | 1 | 1 | Asplenia, isolated congenital, | 271400 |
| RRAS2 | 70.8 | 0.81 | 0.75 | Ovarian carcinoma | 271400 |
| RRM2B | 133.1 | 0.99 | 0.97 | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), | 612075 |
| RRM2B | 133.1 | 0.99 | 0.97 | Mitochondrial DNA depletion syndrome 8B (MNGIE type), | 612075 |
| RRM2B | 133.1 | 0.99 | 0.97 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | 613077 |
| RS1 | 64.1 | 0.99 | 0.95 | Retinoschisis, | 312700 |
| RSPH1 | 148.3 | 1 | 1 | Ciliary dyskinesia, primary, 24 | 615481 |
| RSPH3 | 110.8 | 0.98 | 0.96 | Ciliary dyskinesia, primary, 32 | 616481 |
| RSPH4A | 123.7 | 0.96 | 0.94 | Ciliary dyskinesia, primary, 11 | 612649 |
| RSPH9 | 130.2 | 1 | 0.99 | Ciliary dyskinesia, primary, 12 | 612650 |
| RSPO1 | 97.9 | 1 | 1 | Palmoplantar hyperkeratosis and true hermaphroditism, | 610644 |
| RSPO1 | 97.9 | 1 | 1 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, | 610644 |
| RSPO4 | 103.6 | 1 | 1 | Anonychia congenita, | 206800 |
| RSPRY1 | 141.3 | 1 | 0.99 | Spondylopeimetaphyseal dsyplasia, Faden-Alkuraya type, | 616723 |
| RTEL1 | 110 | 0.99 | 0.96 | Dyskeratosis congenita, autosomal dominant 4 | 615190 |
| RTEL1 | 110 | 0.99 | 0.96 | Dyskeratosis congenita, autosomal recessive 5 | 615190 |
| RTEL1 | 110 | 0.99 | 0.96 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 | 616373 |
| RTN2 | 97.1 | 0.96 | 0.9 | Spastic paraplegia 12 autosomal dominant, | 604805 |
| RTN4IP1 | 82.5 | 0.98 | 0.96 | Optic atrophy 10 with or without ataxia, mental retardation, and seizures, | 616732 |
| RTTN | 121.2 | 0.97 | 0.94 | Microcephaly,short stature,and polymicrogyria with seizures, | 614833 |
| RUNX1 | 95.2 | 0.95 | 0.91 | Leukemia, acute myeloid, | 601626 |
| RUNX1 | 95.2 | 0.95 | 0.91 | Platelet disorder, familial, with associated myeloid malignancy, | 601399 |
| RUNX2 | 82.1 | 0.74 | 0.74 | Cleidocranial dysplasia, | 119600 |
| RUNX2 | 82.1 | 0.74 | 0.74 | Cleidocranial dysplasia, forme fruste, dental anomalies only, | 119600 |
| RUNX2 | 82.1 | 0.74 | 0.74 | Cleidocranial dysplasia, forme fruste, with brachydactyly, | 119600 |
| RUNX2 | 82.1 | 0.74 | 0.74 | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, | 156510 |
| RYR1 | 102.9 | 0.96 | 0.92 | Central core disease, | 117000 |
| RYR1 | 102.9 | 0.96 | 0.92 | King-Denborough syndrome, | 145600 |
| RYR1 | 102.9 | 0.96 | 0.92 | Minicore myopathy with external ophthalmoplegia, | 255320 |
| RYR1 | 102.9 | 0.96 | 0.92 | Neuromuscular disease, congenital, with uniform type 1 fiber, | 117000 |
| RYR1 | 102.9 | 0.96 | 0.92 | {Malignant hyperthermia susceptibility 1}, | 145600 |
| RYR2 | 124.4 | 0.99 | 0.97 | Arrhythmogenic right ventricular dysplasia 2 | 600996 |
| RYR2 | 124.4 | 0.99 | 0.97 | Ventricular tachycardia, catecholaminergic polymorphic, 1 | 604772 |
| S1PR2 | 191.7 | 0.9 | 0.88 | Deafness, autosomal recessive 68 | 610419 |
| SACS | 142.5 | 0.99 | 0.99 | Spastic ataxia, Charlevoix-Saguenay type, | 270550 |
| SAG | 119.9 | 1 | 1 | Oguchi disease-1, | 258100 |
| SAG | 119.9 | 1 | 1 | Retinitis pigmentosa 47 | 613758 |
| SALL1 | 115.3 | 0.98 | 0.98 | Townes-Brocks branchiootorenal-like syndrome, | 107480 |
| SALL1 | 115.3 | 0.98 | 0.98 | Townes-Brocks syndrome, | 107480 |
| SALL4 | 120.3 | 0.97 | 0.95 | Duane-radial ray syndrome, | 607323 |
| SALL4 | 120.3 | 0.97 | 0.95 | IVIC syndrome, | 147750 |
| SAMD9 | 158.1 | 1 | 0.99 | MIRAGE syndrome, | 617053 |
| SAMD9 | 158.1 | 1 | 0.99 | Tumoral calcinosis, familial, normophosphatemic, | 610455 |
| SAMD9L | 145.2 | 1 | 1 | Ataxia-pancytopenia syndrome, | 159550 |
| SAMHD1 | 120.6 | 1 | 0.98 | Aicardi-Goutieres syndrome 5 | 612952 |
| SAMHD1 | 120.6 | 1 | 0.98 | ?Chilblain lupus 2 | 614415 |
| SAR1B | 125.6 | 0.89 | 0.88 | Chylomicron retention disease, | 246700 |
| SARS2 | 97.2 | 0.96 | 0.95 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, | 613845 |
| SATB2 | 97.5 | 0.97 | 0.86 | Glass syndrome, | 612313 |
| SBDS | 163.6 | 1 | 0.99 | Shwachman-Diamond syndrome, | 260400 |
| SBDS | 163.6 | 1 | 0.99 | {Aplastic anemia, susceptibility to}, | 609135 |
| SBF1 | 85.1 | 0.99 | 0.94 | Charcot-Marie-Tooth disease, type 4B3, | 615284 |
| SBF2 | 112.7 | 0.98 | 0.96 | Charcot-Marie-Tooth disease, type 4B2, | 604563 |
| SC5D | 169.7 | 1 | 0.97 | Lathosterolosis, | 607330 |
| SCARB2 | 113.4 | 1 | 0.97 | Epilepsy, progressive myoclonic 4 with or without renal failure, | 254900 |
| SCARF2 | 62.8 | 0.88 | 0.73 | Van den Ende-Gupta syndrome, | 600920 |
| SCN10A | 155 | 1 | 0.99 | Episodic pain syndrome, familial, 2 | 615551 |
| SCN11A | 127.1 | 0.99 | 0.97 | Episodic pain syndrome, familial, 3 | 615552 |
| SCN11A | 127.1 | 0.99 | 0.97 | Neuropathy, hereditary sensory and autonomic, type VII, | 615548 |
| SCN1A | 122.5 | 0.99 | 0.96 | Dravet syndrome, | 607208 |
| SCN1A | 122.5 | 0.99 | 0.96 | Epilepsy, generalized, with febrile seizures plus, type 2 | 604403 |
| SCN1A | 122.5 | 0.99 | 0.96 | Febrile seizures, familial, 3A, | 604403 |
| SCN1A | 122.5 | 0.99 | 0.96 | Migraine, familial hemiplegic, 3 | 609634 |
| SCN1B | 146.7 | 1 | 0.96 | Atrial fibrillation, familial, 13 | 615377 |
| SCN1B | 146.7 | 1 | 0.96 | Brugada syndrome 5 | 612838 |
| SCN1B | 146.7 | 1 | 0.96 | Cardiac conduction defect, nonspecific, | 612838 |
| SCN1B | 146.7 | 1 | 0.96 | Epilepsy, generalized, with febrile seizures plus, type 1 | 604233 |
| SCN2A | 132.4 | 0.99 | 0.96 | Epileptic encephalopathy, early infantile, 11 | 613721 |
| SCN2A | 132.4 | 0.99 | 0.96 | Seizures, benign familial infantile, 3 | 607745 |
| SCN2B | 170.4 | 1 | 1 | Atrial fibrillation, familial, 14 | 615378 |
| SCN3B | 132.4 | 1 | 1 | Atrial fibrillation, familial, 16 | 613120 |
| SCN3B | 132.4 | 1 | 1 | Brugada syndrome 7 | 613120 |
| SCN4A | 188.5 | 1 | 0.99 | Hyperkalemic periodic paralysis, type 2 | 170500 |
| SCN4A | 188.5 | 1 | 0.99 | Hypokalemic periodic paralysis, type 2 | 613345 |
| SCN4A | 188.5 | 1 | 0.99 | Myasthenic syndrome, congenital, 16 | 614198 |
| SCN4A | 188.5 | 1 | 0.99 | Myotonia congenita, atypical, acetazolamide-responsive, | 608390 |
| SCN4A | 188.5 | 1 | 0.99 | Paramyotonia congenita, | 168300 |
| SCN4B | 64.3 | 1 | 0.97 | Atrial fibrillation, familial, 17 | 611819 |
| SCN4B | 64.3 | 1 | 0.97 | Long QT syndrome-10, | 611819 |
| SCN5A | 145.7 | 1 | 1 | Atrial fibrillation, familial, 10 | 614022 |
| SCN5A | 145.7 | 1 | 1 | Brugada syndrome 1 | 601144 |
| SCN5A | 145.7 | 1 | 1 | Cardiomyopathy, dilated, 1E, | 601154 |
| SCN5A | 145.7 | 1 | 1 | Heart block, nonprogressive, | 113900 |
| SCN5A | 145.7 | 1 | 1 | Heart block, progressive, type IA, | 113900 |
| SCN5A | 145.7 | 1 | 1 | Long QT syndrome-3, | 603830 |
| SCN5A | 145.7 | 1 | 1 | Sick sinus syndrome 1 | 608567 |
| SCN5A |