Gene | Chromosome | Cyto Location | Phenotypes |
---|---|---|---|
AAAS | chr12 | 12q13 | Achalasia-addisonianism-alacrimia syndrome, 231550 (3), Autosomal recessive |
AARS | chr16 | 16q22.1 | Developmental and epileptic encephalopathy 29 |
AARS2 | chr6 | 6p21.1 | Combined oxidative phosphorylation deficiency 8, 614096 (3), Autosomal recessive; Leukoencephalopathy, progressive, with ovarian failure, 615889 (3), Autosomal recessive |
AASS | chr7 | 7q31.3 | Hyperlysinemia, 238700 (3), Autosomal recessive |
ABAT | chr16 | 16p13.3 | GABA-transaminase deficiency, 613163 (3), Autosomal recessive |
ABCA1 | chr9 | 9q22-q31 | HDL deficiency, familial, 1, 604091 (3); Tangier disease, 205400 (3), Autosomal recessive |
ABCA12 | chr2 | 2q34 | Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500 (3), Autosomal recessive; Ichthyosis, congenital, autosomal recessive 4A, 601277 (3), Autosomal recessive |
ABCA2 | chr9 | 9q34 | Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808 (3), Autosomal recessive |
ABCA3 | chr16 | 16p13.3 | Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3), Autosomal recessive |
ABCA4 | chr1 | 1p22.1 | Retinal dystrophy, early-onset severe, 248200 (3), Autosomal recessive; Stargardt disease 1, 248200 (3), Autosomal recessive; Fundus flavimaculatus, 248200 (3), Autosomal recessive; {Macular degeneration, age-related, 2}, 153800 (3), Autosomal dominant; Cone-rod dystrophy 3, 604116 (3); Retinitis pigmentosa 19, 601718 (3), Autosomal recessive |
ABCA5 | chr17 | 17q24.2 | ?Hypertrichosis, congenital generalized, with gingival hyperplasia, 135400 (3), Autosomal recessive |
ABCB11 | chr2 | 2q24 | Cholestasis, progressive familial intrahepatic 2, 601847 (3), Autosomal recessive; Cholestasis, benign recurrent intrahepatic, 2, 605479 (3), Autosomal recessive |
ABCB4 | chr7 | 7q21.1 | Gallbladder disease 1, 600803 (3), Autosomal recessive, Autosomal dominant; Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3), Autosomal recessive, Autosomal dominant; Cholestasis, progressive familial intrahepatic 3, 602347 (3), Autosomal recessive |
ABCB7 | chrX | Xq13.1-q13.3 | Anemia, sideroblastic, with ataxia, 301310 (3), X-linked recessive |
ABCC2 | chr10 | 10q24 | Dubin-Johnson syndrome, 237500 (3), Autosomal recessive |
ABCC6 | chr16 | 16p13.1 | Pseudoxanthoma elasticum, 264800 (3), Autosomal recessive; Pseudoxanthoma elasticum, forme fruste, 177850 (3), Autosomal dominant; Arterial calcification, generalized, of infancy, 2, 614473 (3), Autosomal recessive |
ABCC8 | chr11 | 11p15.1 | Diabetes mellitus, noninsulin-dependent, 125853 (3), Autosomal dominant; Diabetes mellitus, permanent neonatal 3, with or without neurologic features, 618857 (3), Autosomal recessive, Autosomal dominant; Diabetes mellitus, transient neonatal 2, 610374 (3); Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3), Autosomal recessive, Autosomal dominant; Hypoglycemia of infancy, leucine-sensitive, 240800 (3), Autosomal dominant |
ABCD1 | chrX | Xq28 | Adrenomyeloneuropathy, adult, 300100 (3), X-linked recessive; Adrenoleukodystrophy, 300100 (3), X-linked recessive |
ABCD3 | chr1 | 1p22-p21 | ?Bile acid synthesis defect, congenital, 5, 616278 (3), Autosomal recessive |
ABCD4 | chr14 | 14q24.3 | Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3), Autosomal recessive |
ABCG5 | chr2 | ||
ABCG8 | chr2 | 2p21 | {Gallbladder disease 4}, 611465 (3); Sitosterolemia 1, 210250 (3), Autosomal recessive |
ABHD12 | chr20 | 20p11.21 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3), Autosomal recessive |
ABHD5 | chr3 | 3p21 | Chanarin-Dorfman syndrome, 275630 (3), Autosomal recessive |
ACACA | chr17 | 17q21 | Acetyl-CoA carboxylase deficiency, 613933 (1), Autosomal recessive |
ACAD8 | chr11 | 11q25 | Isobutyryl-CoA dehydrogenase deficiency, 611283 (3), Autosomal recessive |
ACAD9 | chr3 | 3q26 | Mitochondrial complex I deficiency, nuclear type 20, 611126 (3), Autosomal recessive |
ACADL | chr2 | ||
ACADM | chr1 | 1p31 | Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3), Autosomal recessive |
ACADS | chr12 | 12q22-qter | Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3), Autosomal recessive |
ACADSB | chr10 | 10q25-q26 | 2-methylbutyrylglycinuria, 610006 (3), Autosomal recessive |
ACADVL | chr17 | 17p13 | VLCAD deficiency, 201475 (3), Autosomal recessive |
ACAN | chr15 | 15q26.1 | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3), Autosomal dominant; Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3), Autosomal recessive; ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3), Autosomal dominant |
ACAT1 | chr11 | 11q22.3-q23.1 | Alpha-methylacetoacetic aciduria, 203750 (3), Autosomal recessive |
ACBD5 | chr10 | 10p12.1 | Retinal dystrophy with leukodystrophy, 618863 (3), Autosomal recessive |
ACE | chr17 | 17q23 | Renal tubular dysgenesis, 267430 (3), Autosomal recessive; {Myocardial infarction, susceptibility to} (3); {Microvascular complications of diabetes 3}, 612624 (3); [Angiotensin I-converting enzyme, benign serum increase] (3); {SARS, progression of} (3); {Stroke, hemorrhagic}, 614519 (3) |
ACO2 | chr22 | 22q13.2 | Infantile cerebellar-retinal degeneration, 614559 (3), Autosomal recessive; ?Optic atrophy 9, 616289 (3), Autosomal recessive |
ACOX1 | chr17 | 17q25.1 | Mitchell syndrome, 618960 (3); Peroxisomal acyl-CoA oxidase deficiency, 264470 (3), Autosomal recessive |
ACP2 | chr11 | 11p11.2 | ?Lysosomal acid phosphatase deficiency, 200950 (1), Autosomal recessive |
ACP5 | chr19 | 19p13.3-p13.1 | Spondyloenchondrodysplasia with immune dysregulation, 607944 (3), Autosomal recessive |
ACSF3 | chr16 | 16q24.3 | Acyl-CoA synthetase family member 3 |
ACSL4 | chrX | Xq22.3 | Mental retardation, X-linked 63, 300387 (3), X-linked dominant |
ACTA1 | chr1 | 1q42.1 | Myopathy, actin, congenital, with cores, 161800 (3), Autosomal recessive, Autosomal dominant; Nemaline myopathy 3, autosomal dominant or recessive, 161800 (3), Autosomal recessive, Autosomal dominant; Myopathy, congenital, with fiber-type disproportion 1, 255310 (3), Autosomal recessive, Autosomal dominant; Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3), Autosomal recessive, Autosomal dominant; ?Myopathy, scapulohumeroperoneal, 616852 (3), Autosomal dominant |
ACY1 | chr3 | 3p21.1 | Aminoacylase 1 deficiency, 609924 (3), Autosomal recessive |
ADA | chr20 | 20q13.11 | Adenosine deaminase deficiency, partial, 102700 (3), Somatic mosaicism, Autosomal recessive; Severe combined immunodeficiency due to ADA deficiency, 102700 (3), Somatic mosaicism, Autosomal recessive |
ADA2 | chr22 | 22q11.2 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, 615688 (3), Autosomal recessive; ?Sneddon syndrome, 182410 (3), Autosomal recessive |
ADAM17 | chr2 | 2p25 | ?Inflammatory skin and bowel disease, neonatal, 1, 614328 (3), Autosomal recessive |
ADAM22 | chr7 | 7q21 | ?Epileptic encephalopathy, early infantile, 61, 617933 (3), Autosomal recessive |
ADAM9 | chr8 | 8p11.23 | Cone-rod dystrophy 9, 612775 (3), Autosomal recessive |
ADAMTS10 | chr19 | 19p13.3-p13.2 | Weill-Marchesani syndrome 1, recessive, 277600 (3), Autosomal recessive |
ADAMTS13 | chr9 | 9q34 | Thrombotic thrombocytopenic purpura, hereditary, 274150 (3), Autosomal recessive |
ADAMTS17 | chr15 | 15q24 | Weill-Marchesani 4 syndrome, recessive, 613195 (3), Autosomal recessive |
ADAMTS18 | chr16 | 16q23 | Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3), Autosomal recessive |
ADAMTS2 | chr5 | 5q23 | Ehlers-Danlos syndrome, dermatosparaxis type, 225410 (3), Autosomal recessive |
ADAMTSL2 | chr9 | 9q34.2 | Geleophysic dysplasia 1, 231050 (3), Autosomal recessive |
ADAMTSL4 | chr1 | 1q21 | Ectopia lentis et pupillae, 225200 (3), Autosomal recessive; Ectopia lentis, isolated, autosomal recessive, 225100 (3), Autosomal recessive |
ADAR | chr1 | 1q21.3 | Dyschromatosis symmetrica hereditaria, 127400 (3), Autosomal dominant; Aicardi-Goutieres syndrome 6, 615010 (3), Autosomal recessive |
ADARB1 | chr21 | 21q22.3 | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862 (3), Autosomal recessive |
ADCY1 | chr7 | 7p13-p12 | ?Deafness, autosomal recessive 44, 610154 (3), Autosomal recessive |
ADCY3 | chr2 | 2p24-p22 | {Obesity, susceptibility to, BMIQ19}, 617885 (3), Autosomal recessive |
ADCY6 | chr12 | 12q12-q13 | ?Lethal congenital contracture syndrome 8, 616287 (3), Autosomal recessive |
ADGRG1 | chr16 | 16q13 | Polymicrogyria, bilateral perisylvian, 615752 (3); Polymicrogyria, bilateral frontoparietal, 606854 (3), Autosomal recessive |
ADGRV1 | chr5 | 5q14.3 | Usher syndrome, type 2C, 605472 (3), Digenic dominant, Autosomal recessive; ?Febrile seizures, familial, 4, 604352 (3), Autosomal dominant; Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 (3), Digenic dominant, Autosomal recessive |
ADK | chr10 | 10q11-q24 | Hypermethioninemia due to adenosine kinase deficiency, 614300 (3), Autosomal recessive |
ADRB2 | chr5 | 5q32-q34 | {Asthma, nocturnal, susceptibility to}, 600807 (3), Autosomal dominant; {Obesity, susceptibility to}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant; Beta-2-adrenoreceptor agonist, reduced response to (3) |
ADRB3 | chr8 | 8p12-p11.2 | {Obesity, susceptibility to}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant |
ADSL | chr22 | 22q13.1 | Adenylosuccinase deficiency, 103050 (3), Autosomal recessive |
AEBP1 | chr7 | 7p13 | Ehlers-Danlos syndrome, classic-like, 2, 618000 (3), Autosomal recessive |
AFF2 | chrX | Xq28 | Mental retardation, X-linked, FRAXE type, 309548 (3), X-linked recessive |
AFG3L2 | chr18 | 18p11 | Spastic ataxia 5, autosomal recessive, 614487 (3), Autosomal recessive; Optic atrophy 12, 618977 (3); Spinocerebellar ataxia 28, 610246 (3), Autosomal dominant |
AFP | chr4 | 4q11-q13 | Alpha-fetoprotein deficiency, 615969 (3), Autosomal recessive; [Hereditary persistence of alpha-fetoprotein], 615970 (3), Autosomal dominant |
AGA | chr4 | 4q32-q33 | Aspartylglucosaminuria, 208400 (3), Autosomal recessive |
AGK | chr7 | 7q34 | Sengers syndrome, 212350 (3), Autosomal recessive; Cataract 38, autosomal recessive, 614691 (3), Autosomal recessive |
AGL | chr1 | 1p21 | Glycogen storage disease IIIb, 232400 (3), Autosomal recessive; Glycogen storage disease IIIa, 232400 (3), Autosomal recessive |
AGPAT2 | chr9 | 9q34.3 | Lipodystrophy, congenital generalized, type 1, 608594 (3), Autosomal recessive |
AGPS | chr2 | 2q31 | Rhizomelic chondrodysplasia punctata, type 3, 600121 (3), Autosomal recessive |
AGRN | chr1 | 1pter-p32 | Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3), Autosomal recessive |
AGRP | chr16 | 16q22 | {Obesity, late-onset}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant; {Leanness, inherited}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant |
AGT | chr1 | 1q42-q43 | {Preeclampsia, susceptibility to} (3); Renal tubular dysgenesis, 267430 (3), Autosomal recessive; {Hypertension, essential, susceptibility to}, 145500 (3), Multifactorial |
AGTPBP1 | chr9 | 9q21.33 | Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 (3), Autosomal recessive |
AGTR1 | chr3 | 3q21-q25 | Renal tubular dysgenesis, 267430 (3), Autosomal recessive; {Hypertension, essential}, 145500 (3), Multifactorial |
AGTR2 | chrX | Xq23 | |
AGXT | chr2 | 2q36-q37 | Hyperoxaluria, primary, type 1, 259900 (3), Autosomal recessive |
AGXT2 | chr5 | 5p13 | [Beta-aminoisobutyric acid, urinary excretion of], 210100 (3), Autosomal recessive |
AHCY | chr20 | 20cen-q13.1 | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3), Autosomal recessive |
AHI1 | chr6 | 6q23.3 | Joubert syndrome 3, 608629 (3), Autosomal recessive |
AHR | chr7 | 7p15 | ?Retinitis pigmentosa 85, 618345 (3), Autosomal recessive |
AHSG | chr3 | 3q27 | ?Alopecia-mental retardation syndrome 1, 203650 (3), Autosomal recessive |
AICDA | chr12 | 12p13 | Immunodeficiency with hyper-IgM, type 2, 605258 (3), Autosomal recessive |
AIFM1 | chrX | Xq26.1 | Cowchock syndrome, 310490 (3), X-linked recessive; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232 (3), X-linked recessive; Combined oxidative phosphorylation deficiency 6, 300816 (3), X-linked recessive; Deafness, X-linked 5, 300614 (3), X-linked recessive |
AIMP1 | chr4 | 4q24 | Leukodystrophy, hypomyelinating, 3, 260600 (3), Autosomal recessive |
AIPL1 | chr17 | 17p13.1 | Leber congenital amaurosis 4, 604393 (3), Autosomal recessive, Autosomal dominant; Retinitis pigmentosa, juvenile, 604393 (3), Autosomal recessive, Autosomal dominant; Cone-rod dystrophy, 604393 (3), Autosomal recessive, Autosomal dominant |
AIRE | chr21 | 21q22.3 | Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3), Autosomal recessive, Autosomal dominant |
AK1 | chr9 | 9q34.1 | Hemolytic anemia due to adenylate kinase deficiency, 612631 (3), Autosomal recessive |
AK2 | chr1 | 1p34 | Reticular dysgenesis, 267500 (3), Autosomal recessive |
AK7 | chr14 | 14q32.2 | ?Spermatogenic failure 27, 617965 (3), Autosomal recessive |
AKR1C2 | chr10 | 10p15-p14 | 46XY sex reversal 8, 614279 (3), Autosomal recessive |
AKR1C4 | chr10 | 10p15-p14 | {46XY sex reversal 8, modifier of}, 614279 (3), Autosomal recessive |
AKR1D1 | chr7 | 7q32-q33 | Bile acid synthesis defect, congenital, 2, 235555 (3), Autosomal recessive |
ALAD | chr9 | 9q34 | Porphyria, acute hepatic, 612740 (3), Autosomal recessive; {Lead poisoning, susceptibility to}, 612740 (3), Autosomal recessive |
ALAS2 | chrX | Xp11.21 | Protoporphyria, erythropoietic, X-linked, 300752 (3), X-linked; Anemia, sideroblastic, 1, 300751 (3), X-linked recessive |
ALDH18A1 | chr10 | 10q24.3 | Cutis laxa, autosomal recessive, type IIIA, 219150 (3), Autosomal recessive; Cutis laxa, autosomal dominant 3, 616603 (3), Autosomal dominant; Spastic paraplegia 9B, autosomal recessive, 616586 (3), Autosomal recessive; Spastic paraplegia 9A, autosomal dominant, 601162 (3), Autosomal dominant |
ALDH1A3 | chr15 | 15q26 | Microphthalmia, isolated 8, 615113 (3), Autosomal recessive |
ALDH3A2 | chr17 | 17p11.2 | Sjogren-Larsson syndrome, 270200 (3), Autosomal recessive |
ALDH4A1 | chr1 | 1p36 | Hyperprolinemia, type II, 239510 (3), Autosomal recessive |
ALDH5A1 | chr6 | 6p22 | Succinic semialdehyde dehydrogenase deficiency, 271980 (3), Autosomal recessive |
ALDH6A1 | chr14 | 14q24.3 | Methylmalonate semialdehyde dehydrogenase deficiency, 614105 (3), Autosomal recessive |
ALDH7A1 | chr5 | 5q31 | Epilepsy, pyridoxine-dependent, 266100 (3), Autosomal recessive |
ALDOA | chr16 | 16p11.2 | Glycogen storage disease XII, 611881 (3), Autosomal recessive |
ALDOB | chr9 | 9q22.3 | Fructose intolerance, hereditary, 229600 (3), Autosomal recessive |
ALG1 | chr16 | 16p13.3 | Congenital disorder of glycosylation, type Ik, 608540 (3), Autosomal recessive |
ALG11 | chr13 | 13q14.3 | Congenital disorder of glycosylation, type Ip, 613661 (3), Autosomal recessive |
ALG12 | chr22 | 22q13.33 | Congenital disorder of glycosylation, type Ig, 607143 (3), Autosomal recessive |
ALG14 | chr1 | 1p21.3 | ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 (3), Autosomal recessive |
ALG2 | chr9 | 9q22 | Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3), Autosomal recessive; ?Congenital disorder of glycosylation, type Ii, 607906 (3), Autosomal recessive |
ALG3 | chr3 | 3q27 | Congenital disorder of glycosylation, type Id, 601110 (3), Autosomal recessive |
ALG6 | chr1 | 1p22.3 | Congenital disorder of glycosylation, type Ic, 603147 (3), Autosomal recessive |
ALG8 | chr11 | 11pter-p15.5 | Congenital disorder of glycosylation, type Ih, 608104 (3), Autosomal recessive; Polycystic liver disease 3 with or without kidney cysts, 617874 (3), Autosomal dominant |
ALG9 | chr11 | 11q23 | Gillessen-Kaesbach- Nishimura syndrome, 263210 (3), Autosomal recessive; Congenital disorder of glycosylation, type Il, 608776 (3), Autosomal recessive |
ALMS1 | chr2 | 2p13 | Alstrom syndrome, 203800 (3), Autosomal recessive |
ALOX12B | chr17 | 17p13.1 | Ichthyosis, congenital, autosomal recessive 2, 242100 (3), Autosomal recessive |
ALOXE3 | chr17 | 17p13.1 | Ichthyosis, congenital, autosomal recessive 3, 606545 (3), Autosomal recessive |
ALPL | chr1 | 1p36.1-p34 | Hypophosphatasia, adult, 146300 (3), Autosomal recessive, Autosomal dominant; Odontohypophosphatasia, 146300 (3), Autosomal recessive, Autosomal dominant; Hypophosphatasia, childhood, 241510 (3), Autosomal recessive; Hypophosphatasia, infantile, 241500 (3), Autosomal recessive |
ALS2 | chr2 | 2q33 | Primary lateral sclerosis, juvenile, 606353 (3), Autosomal recessive; Amyotrophic lateral sclerosis 2, juvenile, 205100 (3), Autosomal recessive; Spastic paralysis, infantile onset ascending, 607225 (3), Autosomal recessive |
ALX1 | chr12 | 12q21.3-q22 | Frontonasal dysplasia 3, 613456 (3), Autosomal recessive |
ALX3 | chr1 | 1p21-p13 | Frontonasal dysplasia 1, 136760 (3), Autosomal recessive |
ALX4 | chr11 | 11p11.2 | Frontonasal dysplasia 2, 613451 (3), Autosomal recessive; Parietal foramina 2, 609597 (3), Autosomal dominant; {Craniosynostosis 5, susceptibility to}, 615529 (3), Autosomal dominant |
AMACR | chr5 | 5p13.2-q11.1 | Bile acid synthesis defect, congenital, 4, 214950 (3), Autosomal recessive; Alpha-methylacyl-CoA racemase deficiency, 614307 (3), Autosomal recessive |
AMBN | chr4 | 4q21 | Amelogenesis imperfecta, type IF, 616270 (3), Autosomal recessive |
AMH | chr19 | 19p13.3-p13.2 | Persistent Mullerian duct syndrome, type I, 261550 (3), Autosomal recessive |
AMHR2 | chr12 | 12q13 | Persistent Mullerian duct syndrome, type II, 261550 (3), Autosomal recessive |
AMN | chr14 | 14q32 | Imerslund-Grasbeck syndrome 2, 618882 (3), Autosomal recessive |
AMPD1 | chr1 | 1p21-p13 | Myopathy due to myoadenylate deaminase deficiency, 615511 (3), Autosomal recessive |
AMPD2 | chr1 | 1p13.3 | ?Spastic paraplegia 63, 615686 (3), Autosomal recessive; Pontocerebellar hypoplasia, type 9, 615809 (3), Autosomal recessive |
AMPD3 | chr11 | 11pter-p13 | [AMP deaminase deficiency, erythrocytic], 612874 (3), Autosomal recessive |
AMT | chr3 | 3p21.2-p21.1 | Glycine encephalopathy, 605899 (3), Autosomal recessive |
ANAPC1 | chr2 | 2q13 | Rothmund-Thomson syndrome, type 1, 618625 (3), Autosomal recessive |
ANGPTL3 | chr1 | 1p31 | Hypobetalipoproteinemia, familial, 2, 605019 (3), Autosomal recessive |
ANK1 | chr8 | 8p11.2 | Spherocytosis, type 1, 182900 (3), Autosomal recessive, Autosomal dominant |
ANK3 | chr10 | 10q21 | Mental retardation, autosomal recessive, 37, 615493 (3), Autosomal recessive |
ANKLE2 | chr12 | 12q24.33 | Microcephaly 16, primary, autosomal recessive, 616681 (3), Autosomal recessive |
ANKS6 | chr9 | 9q22.33 | Nephronophthisis 16, 615382 (3), Autosomal recessive |
ANO10 | chr3 | 3p22.1 | Spinocerebellar ataxia, autosomal recessive 10, 613728 (3), Autosomal recessive |
ANO5 | chr11 | 11p14.3 | Miyoshi muscular dystrophy 3, 613319 (3), Autosomal recessive; Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307 (3), Autosomal recessive; Gnathodiaphyseal dysplasia, 166260 (3), Autosomal dominant |
ANO6 | chr12 | 12q12 | Scott syndrome, 262890 (3), Autosomal recessive |
ANOS1 | chrX | Xp22.31 | Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 (3), X-linked recessive |
ANTXR1 | chr2 | 2p13.1 | GAPO syndrome, 230740 (3), Autosomal recessive; {?Hemangioma, capillary infantile, susceptibility to}, 602089 (3), Autosomal dominant |
ANTXR2 | chr4 | 4q21 | Hyaline fibromatosis syndrome, 228600 (3), Autosomal recessive |
AP1S1 | chr7 | 7q22.1 | MEDNIK syndrome, 609313 (3), Autosomal recessive |
AP1S2 | chrX | Xp22 | Mental retardation, X-linked syndromic 5, 304340 (3), X-linked recessive |
AP3B1 | chr5 | 5q14.1 | Hermansky-Pudlak syndrome 2, 608233 (3), Autosomal recessive |
AP3B2 | chr15 | 15q25.2 | Epileptic encephalopathy, early infantile, 48, 617276 (3), Autosomal recessive |
AP3D1 | chr19 | 19p13.3 | ?Hermansky-Pudlak syndrome 10, 617050 (3), Autosomal recessive |
AP4B1 | chr1 | 1p13.2 | Spastic paraplegia 47, autosomal recessive, 614066 (3), Autosomal recessive |
AP4E1 | chr15 | 15q21.2 | Stuttering, familial persistent, 1, 184450 (3), Autosomal dominant; Spastic paraplegia 51, autosomal recessive, 613744 (3), Autosomal recessive |
AP4M1 | chr7 | 7q22.1 | Spastic paraplegia 50, autosomal recessive, 612936 (3), Autosomal recessive |
AP4S1 | chr14 | 14q12 | Spastic paraplegia 52, autosomal recessive, 614067 (3), Autosomal recessive |
AP5Z1 | chr7 | 7p22.1 | Spastic paraplegia 48, autosomal recessive, 613647 (3), Autosomal recessive |
APC2 | chr19 | 19p13.3 | ?Sotos syndrome 3, 617169 (3), Autosomal recessive; Cortical dysplasia, complex, with other brain malformations 10, 618677 (3), Autosomal recessive |
APOB | chr2 | 2p24 | Hypobetalipoproteinemia, 615558 (3), Autosomal recessive; Hypercholesterolemia, familial, 2, 144010 (3), Autosomal dominant |
APOC2 | chr19 | 19q13.2 | Hyperlipoproteinemia, type Ib, 207750 (3), Autosomal recessive |
APOE | chr19 | 19q13.2 | Hyperlipoproteinemia, type III, 617347 (3); {Coronary artery disease, severe, susceptibility to}, 617347 (3); {?Alzheimer disease, protection against, due to APOE3-Christchurch}, 607822 (3), Autosomal dominant; Lipoprotein glomerulopathy, 611771 (3); Sea-blue histiocyte disease, 269600 (3), Autosomal recessive; {?Macular degeneration, age-related}, 603075 (3), Autosomal dominant; Alzheimer disease 2, 104310 (3), Autosomal dominant |
APOPT1 | chr14 | 14q32.33 | Mitochondrial complex IV deficiency, 220110 (3), Mitochondrial, Autosomal recessive |
APRT | chr16 | 16q24.3 | Adenine phosphoribosyltransferase deficiency, 614723 (3), Autosomal recessive |
APTX | chr9 | 9p13.3 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3), Autosomal recessive |
AQP2 | chr12 | 12q13 | Diabetes insipidus, nephrogenic, 125800 (3), Autosomal recessive, Autosomal dominant |
AQP7 | chr9 | 9p13 | [Glycerol quantitative trait locus], 614411 (3), Autosomal recessive |
AR | chrX | Xq11-q12 | Hypospadias 1, X-linked, 300633 (3), X-linked recessive; Androgen insensitivity, 300068 (3), X-linked recessive; {Prostate cancer, susceptibility to}, 176807 (3), Somatic mutation, Autosomal dominant; Androgen insensitivity, partial, with or without breast cancer, 312300 (3), X-linked recessive; Spinal and bulbar muscular atrophy of Kennedy, 313200 (3), X-linked recessive |
ARFGEF2 | chr20 | 20q13.13 | Periventricular heterotopia with microcephaly, 608097 (3), Autosomal recessive |
ARG1 | chr6 | 6q23 | Argininemia, 207800 (3), Autosomal recessive |
ARHGDIA | chr17 | 17q25.3 | Nephrotic syndrome, type 8, 615244 (3), Autosomal recessive |
ARHGEF6 | chrX | Xq26.3 | |
ARHGEF9 | chrX | Xq22.1 | Epileptic encephalopathy, early infantile, 8, 300607 (3), X-linked recessive |
ARL13B | chr3 | 3q11.2 | Joubert syndrome 8, 612291 (3), Autosomal recessive |
ARL2BP | chr16 | 16q13 | Retinitis pigmentosa with or without situs inversus, 615434 (3), Autosomal recessive |
ARL3 | chr10 | 10q23.3 | Joubert syndrome 35, 618161 (3), Autosomal recessive; Retinitis pigmentosa 83, 618173 (3), Autosomal dominant |
ARL6 | chr3 | 3p12-q13 | ?Retinitis pigmentosa 55, 613575 (3); Bardet-Biedl syndrome 3, 600151 (3), Autosomal recessive; {Bardet-Biedl syndrome 1, modifier of}, 209900 (3), Digenic recessive, Autosomal recessive |
ARL6IP1 | chr16 | 16p12-p11.2 | ?Spastic paraplegia 61, autosomal recessive, 615685 (3), Autosomal recessive |
ARMC4 | chr10 | 10p12.1 | Ciliary dyskinesia, primary, 23, 615451 (3), Autosomal recessive |
ARNT2 | chr15 | 15q24 | ?Webb-Dattani syndrome, 615926 (3), Autosomal recessive |
ARSA | chr22 | 22q13.31-qter | Metachromatic leukodystrophy, 250100 (3), Autosomal recessive |
ARSB | chr5 | 5q11-q13 | Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3), Autosomal recessive |
ARSE | chrX | ||
ARV1 | chr1 | 1q42.2 | Epileptic encephalopathy, early infantile, 38, 617020 (3), Autosomal recessive |
ARX | chrX | Xp22.13 | Epileptic encephalopathy, early infantile, 1, 308350 (3), X-linked recessive; Lissencephaly, X-linked 2, 300215 (3), X-linked; Proud syndrome, 300004 (3), X-linked; Mental retardation, X-linked 29 and others, 300419 (3), X-linked recessive; Partington syndrome, 309510 (3), X-linked recessive; Hydranencephaly with abnormal genitalia, 300215 (3), X-linked |
ASAH1 | chr8 | 8p22-p21.3 | Farber lipogranulomatosis, 228000 (3), Autosomal recessive; Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3), Autosomal recessive |
ASCC1 | chr10 | 10q22.1 | Spinal muscular atrophy with congenital bone fractures 2, 616867 (3), Autosomal recessive; Barrett esophagus/esophageal adenocarcinoma, 614266 (3) |
ASL | chr7 | 7cen-q11.2 | Argininosuccinic aciduria, 207900 (3), Autosomal recessive |
ASNS | chr7 | 7q21-q31 | Asparagine synthetase deficiency, 615574 (3), Autosomal recessive |
ASPA | chr17 | 17pter-p13 | Canavan disease, 271900 (3), Autosomal recessive |
ASPH | chr8 | 8q12.1 | Traboulsi syndrome, 601552 (3), Autosomal recessive |
ASPM | chr1 | 1q31 | Microcephaly 5, primary, autosomal recessive, 608716 (3), Autosomal recessive |
ASS1 | chr9 | 9q34.1 | Citrullinemia, 215700 (3), Autosomal recessive |
ATAD3A | chr1 | 1p36.33 | Harel-Yoon syndrome, 617183 (3), Autosomal recessive, Autosomal dominant; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, 618810 (3), Autosomal recessive |
ATCAY | chr19 | 19p13.3 | Ataxia, cerebellar, Cayman type, 601238 (3), Autosomal recessive |
ATF6 | chr1 | 1q22-q23 | Achromatopsia 7, 616517 (3), Autosomal recessive |
ATIC | chr2 | 2q35 | AICA-ribosiduria due to ATIC deficiency, 608688 (3), Autosomal recessive |
ATM | chr11 | 11q22.3 | Lymphoma, mantle cell, somatic (3); Lymphoma, B-cell non-Hodgkin, somatic (3); Ataxia-telangiectasia, 208900 (3), Autosomal recessive; {Breast cancer, susceptibility to}, 114480 (3), Somatic mutation, Autosomal dominant; T-cell prolymphocytic leukemia, somatic (3) |
ATOH7 | chr10 | 10q21.3-q22.1 | Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3), Autosomal recessive |
ATP13A2 | chr1 | 1p36 | Kufor-Rakeb syndrome, 606693 (3), Autosomal recessive; Spastic paraplegia 78, autosomal recessive, 617225 (3), Autosomal recessive |
ATP2A1 | chr16 | 16p12 | Brody myopathy, 601003 (3), Autosomal recessive |
ATP2B2 | chr3 | 3p26-p25 | {Deafness, autosomal recessive 12, modifier of}, 601386 (3), Autosomal recessive |
ATP2B3 | chrX | Xq28 | ?Spinocerebellar ataxia, X-linked 1, 302500 (3), X-linked recessive |
ATP6AP2 | chrX | Xp11.4 | Congenital disorder of glycosylation, type IIr, 301045 (3), X-linked recessive; Mental retardation, X-linked, syndromic, Hedera type, 300423 (3), X-linked recessive; ?Parkinsonism with spasticity, X-linked, 300911 (3), X-linked recessive |
ATP6V0A2 | chr12 | 12q24.3 | Wrinkly skin syndrome, 278250 (3), Autosomal recessive; Cutis laxa, autosomal recessive, type IIA, 219200 (3), Autosomal recessive |
ATP6V0A4 | chr7 | 7q33-q34 | Renal tubular acidosis, distal, autosomal recessive, 602722 (3) |
ATP6V1B1 | chr2 | 2cen-q13 | Renal tubular acidosis with deafness, 267300 (3), Autosomal recessive |
ATP7A | chrX | Xq12-q13 | Occipital horn syndrome, 304150 (3), X-linked recessive; Menkes disease, 309400 (3), X-linked recessive; Spinal muscular atrophy, distal, X-linked 3, 300489 (3), X-linked recessive |
ATP7B | chr13 | 13q14.3-q21.1 | Wilson disease, 277900 (3), Autosomal recessive |
ATP8A2 | chr13 | 13q12 | ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 (3), Autosomal recessive |
ATP8B1 | chr18 | 18q21 | Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3), Autosomal dominant; Cholestasis, progressive familial intrahepatic 1, 211600 (3), Autosomal recessive; Cholestasis, benign recurrent intrahepatic, 243300 (3), Autosomal recessive |
ATPAF2 | chr17 | 17p11.2 | ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 (3), Autosomal recessive |
ATR | chr3 | 3q22-q24 | Seckel syndrome 1, 210600 (3), Autosomal recessive; ?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3), Autosomal dominant |
ATRX | chrX | Xq13 | Alpha-thalassemia/mental retardation syndrome, 301040 (3), X-linked dominant; Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3); Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3), X-linked recessive |
AUH | chr9 | 9q22.31 | 3-methylglutaconic aciduria, type I, 250950 (3), Autosomal recessive |
AURKC | chr19 | 19q13.43 | Spermatogenic failure 5, 243060 (3), Autosomal recessive |
AVPR2 | chrX | Xq28 | Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3), X-linked recessive; Diabetes insipidus, nephrogenic, 304800 (3), X-linked recessive |
B2M | chr15 | 15q21-q22 | Immunodeficiency 43, 241600 (3), Autosomal recessive; ?Amyloidosis, familial visceral, 105200 (3), Autosomal dominant |
B3GALNT2 | chr1 | 1q42.3 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3), Autosomal recessive |
B3GALT6 | chr1 | 1p36.3 | Al-Gazali syndrome, 609465 (3); Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 (3), Autosomal recessive; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3), Autosomal recessive |
B3GAT3 | chr11 | 11q12-q13 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 (3), Autosomal recessive |
B3GLCT | chr13 | 13q12.3 | Peters-plus syndrome, 261540 (3), Autosomal recessive |
B4GALNT1 | chr12 | 12q13.3 | Spastic paraplegia 26, autosomal recessive, 609195 (3), Autosomal recessive |
B4GALT1 | chr9 | 9p13 | Congenital disorder of glycosylation, type IId, 607091 (3), Autosomal recessive |
B4GALT7 | chr5 | 5q35.2-q35.3 | Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 (3), Autosomal recessive |
B4GAT1 | chr11 | 11q13.2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 (3), Autosomal recessive |
B9D1 | chr17 | 17p11.2 | ?Meckel syndrome 9, 614209 (3), Autosomal recessive; Joubert syndrome 27, 617120 (3), Autosomal recessive |
B9D2 | chr19 | 19q13.2 | Joubert syndrome 34, 614175 (3), Autosomal recessive; ?Meckel syndrome 10, 614175 (3), Autosomal recessive |
BAAT | chr9 | 9q22.3 | Hypercholanemia, familial, 607748 (3), Autosomal recessive |
BANF1 | chr11 | 11q13.1 | Nestor-Guillermo progeria syndrome, 614008 (3), Autosomal recessive |
BBIP1 | chr10 | 10q25.2 | ?Bardet-Biedl syndrome 18, 615995 (3), Autosomal recessive |
BBS1 | chr11 | 11q13 | Bardet-Biedl syndrome 1, 209900 (3), Digenic recessive, Autosomal recessive |
BBS10 | chr12 | 12q21.2 | Bardet-Biedl syndrome 10, 615987 (3), Autosomal recessive |
BBS12 | chr4 | 4q27 | Bardet-Biedl syndrome 12, 615989 (3), Autosomal recessive |
BBS2 | chr16 | 16q21 | Bardet-Biedl syndrome 2, 615981 (3), Autosomal recessive; Retinitis pigmentosa 74, 616562 (3), Autosomal recessive |
BBS4 | chr15 | 15q22.3-q23 | Bardet-Biedl syndrome 4, 615982 (3), Autosomal recessive |
BBS5 | chr2 | 2q31 | Bardet-Biedl syndrome 5, 615983 (3), Autosomal recessive |
BBS7 | chr4 | 4q27 | Bardet-Biedl syndrome 7, 615984 (3), Autosomal recessive |
BBS9 | chr7 | 7p14 | Bardet-Biedl syndrome 9, 615986 (3), Autosomal recessive |
BCAM | chr19 | 19q13.2 | [Blood group, Lutheran null], 247420 (3), Autosomal recessive; [Blood group, Lutheran system], 111200 (3); [Blood group, Auberger system], 111200 (3) |
BCAP31 | chrX | Xq28 | Deafness, dystonia, and cerebral hypomyelination, 300475 (3), X-linked recessive |
BCAT2 | chr19 | 19q13 | ?Hypervalinemia or hyperleucine-isoleucinemia, 618850 (3), Autosomal recessive |
BCHE | chr3 | 3q26.1-q26.2 | {Apnea, postanesthetic, susceptibility to, due to BCHE deficiency}, 617936 (3); Butyrylcholinesterase deficiency, 617936 (3) |
BCKDHA | chr19 | 19q13.1-q13.2 | Maple syrup urine disease, type Ia, 248600 (3), Autosomal recessive |
BCKDHB | chr6 | 6q14 | Maple syrup urine disease, type Ib, 248600 (3), Autosomal recessive |
BCL10 | chr1 | 1p22 | ?Immunodeficiency 37, 616098 (3), Autosomal recessive; {Male germ cell tumor, somatic}, 273300 (3); Lymphoma, MALT, somatic, 137245 (3); {Sezary syndrome, somatic} (3); {Lymphoma, follicular, somatic}, 605027 (3); {Mesothelioma, somatic}, 156240 (3) |
BCOR | chrX | Xp11.4 | Microphthalmia, syndromic 2, 300166 (3), X-linked dominant |
BCORL1 | chrX | Xq25-q26.1 | Shukla-Vernon syndrome, 301029 (3), X-linked recessive |
BCS1L | chr2 | 2q33 | Leigh syndrome, 256000 (3), Mitochondrial, Autosomal recessive; GRACILE syndrome, 603358 (3), Autosomal recessive; Bjornstad syndrome, 262000 (3), Autosomal recessive; Mitochondrial complex III deficiency, nuclear type 1, 124000 (3), Autosomal recessive |
BDP1 | chr5 | 5q13 | ?Deafness, autosomal recessive 112, 618257 (3), Autosomal recessive |
BEST1 | chr11 | 11q13 | Retinitis pigmentosa-50, 613194 (3); Bestrophinopathy, autosomal recessive, 611809 (3); Retinitis pigmentosa, concentric, 613194 (3); Vitreoretinochoroidopathy, 193220 (3), Autosomal dominant; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3), Autosomal dominant; Macular dystrophy, vitelliform, 2, 153700 (3), Autosomal dominant |
BFSP1 | chr20 | 20p12.1-p11.23 | Cataract 33, multiple types, 611391 (3), Autosomal recessive, Autosomal dominant |
BGN | chrX | Xq28 | Meester-Loeys syndrome, 300989 (3), X-linked; Spondyloepimetaphyseal dysplasia, X-linked, 300106 (3), X-linked recessive |
BHLHA9 | chr17 | 17p13.3 | Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 (3), Autosomal recessive; ?Camptosynpolydactyly, complex, 607539 (3), Autosomal recessive |
BIN1 | chr2 | 2q14 | Centronuclear myopathy 2, 255200 (3), Autosomal recessive |
BLM | chr15 | 15q26.1 | Bloom syndrome, 210900 (3), Autosomal recessive |
BLNK | chr10 | 10q23.2 | ?Agammaglobulinemia 4, 613502 (3), Autosomal recessive |
BLOC1S3 | chr19 | 19q13 | Hermansky-Pudlak syndrome 8, 614077 (3), Autosomal recessive |
BLOC1S6 | chr15 | 15q15 | ?Hermansky-pudlak syndrome 9, 614171 (3), Autosomal recessive |
BLVRA | chr7 | 7p13 | Hyperbiliverdinemia, 614156 (3), Autosomal recessive, Autosomal dominant |
BMP1 | chr8 | 8p21 | Osteogenesis imperfecta, type XIII, 614856 (3), Autosomal recessive |
BMP2 | chr20 | 20p12 | Brachydactyly, type A2, 112600 (3), Autosomal dominant; Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877 (3), Autosomal dominant; {HFE hemochromatosis, modifier of}, 235200 (3), Autosomal recessive |
BMPER | chr7 | 7p14.3 | Diaphanospondylodysostosis, 608022 (3), Autosomal recessive |
BMPR1B | chr4 | 4q23-q24 | Brachydactyly, type A2, 112600 (3), Autosomal dominant; Brachydactyly, type A1, D, 616849 (3), Autosomal dominant; Acromesomelic dysplasia, Demirhan type, 609441 (3), Autosomal recessive |
BOLA3 | chr2 | 2p13.1 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299 (3), Autosomal recessive |
BPGM | chr7 | 7q31-q34 | Erythrocytosis, familial, 8, 222800 (3), Autosomal recessive |
BRAT1 | chr7 | 7p22.3 | Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3), Autosomal recessive; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056 (3), Autosomal recessive |
BRF1 | chr14 | 14q32.33 | Cerebellofaciodental syndrome, 616202 (3), Autosomal recessive |
BRWD3 | chrX | Xq13 | Mental retardation, X-linked 93, 300659 (3), X-linked recessive |
BSCL2 | chr11 | 11q13 | Lipodystrophy, congenital generalized, type 2, 269700 (3), Autosomal recessive; Silver spastic paraplegia syndrome, 270685 (3), Autosomal dominant; Neuropathy, distal hereditary motor, type VA, 600794 (3), Autosomal dominant; Encephalopathy, progressive, with or without lipodystrophy, 615924 (3), Autosomal recessive |
BSND | chr1 | 1p31 | Sensorineural deafness with mild renal dysfunction, 602522 (3), Autosomal recessive; Bartter syndrome, type 4a, 602522 (3), Autosomal recessive |
BTD | chr3 | 3p25 | Biotinidase deficiency, 253260 (3), Autosomal recessive |
BTK | chrX | Xq21.3-q22 | Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200 (3), X-linked recessive; Agammaglobulinemia, X-linked 1, 300755 (3), X-linked recessive |
BUB1B | chr15 | 15q15 | Colorectal cancer, somatic, 114500 (3); [Premature chromatid separation trait], 176430 (3), Autosomal dominant; Mosaic variegated aneuploidy syndrome 1, 257300 (3), Autosomal recessive |
BVES | chr6 | 6q21 | Muscular dystrophy, limb-girdle, autosomal recessive 25, 616812 (3), Autosomal recessive |
C12orf4 | chr12 | 12p13.3 | Mental retardation, autosomal recessive 66, 618221 (3), Autosomal recessive |
C12orf57 | chr12 | 12p13 | Temtamy syndrome, 218340 (3), Autosomal recessive |
C12orf65 | chr12 | 12q24.31 | Spastic paraplegia 55, autosomal recessive, 615035 (3), Autosomal recessive; Combined oxidative phosphorylation deficiency 7, 613559 (3), Autosomal recessive |
C19orf12 | chr19 | 19q12 | Neurodegeneration with brain iron accumulation 4, 614298 (3), Autosomal recessive, Autosomal dominant; ?Spastic paraplegia 43, autosomal recessive, 615043 (3), Autosomal recessive |
C1QA | chr1 | 1p36.3-p34.1 | C1q deficiency, 613652 (3), Autosomal recessive |
C1QB | chr1 | 1p36.3-p34.1 | C1q deficiency, 613652 (3), Autosomal recessive |
C1QC | chr1 | 1p36.3-p34.1 | C1q deficiency, 613652 (3), Autosomal recessive |
C2 | chr6 | 6p21.3 | C2 deficiency, 217000 (3), Autosomal recessive; {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3) |
C2CD3 | chr11 | 11q13.4 | Orofaciodigital syndrome XIV, 615948 (3), Autosomal recessive |
C3 | chr19 | 19p13.3-p13.2 | {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3), Autosomal dominant; C3 deficiency, 613779 (3), Autosomal recessive; {Macular degeneration, age-related, 9}, 611378 (3) |
C4A | chr6 | 6p21.3 | C4a deficiency, 614380 (3), Autosomal recessive; [Blood group, Rodgers], 614374 (3) |
C8A | chr1 | 1p32 | C8 deficiency, type I, 613790 (3), Autosomal recessive |
C8B | chr1 | 1p32 | C8 deficiency, type II, 613789 (3), Autosomal recessive |
C8orf37 | chr8 | 8q22.1 | Retinitis pigmentosa 64, 614500 (3), Autosomal recessive; Bardet-Biedl syndrome 21, 617406 (3), Autosomal recessive; Cone-rod dystrophy 16, 614500 (3), Autosomal recessive |
CA12 | chr15 | 15q22 | Hyperchlorhidrosis, isolated, 143860 (3), Autosomal recessive |
CA2 | chr8 | 8q22 | Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3), Autosomal recessive |
CA5A | chr16 | 16q24.3 | Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 (3), Autosomal recessive |
CA8 | chr8 | 8q11-q12 | Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 (3), Autosomal recessive |
CABP2 | chr11 | 11q13.1 | Deafness, autosomal recessive 93, 614899 (3), Autosomal recessive |
CABP4 | chr11 | 11q13.1 | Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3), Autosomal recessive |
CACNA1B | chr9 | 9q34 | Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497 (3), Autosomal recessive |
CACNA1D | chr3 | 3p21.1 | Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3), Autosomal dominant; Sinoatrial node dysfunction and deafness, 614896 (3), Autosomal recessive |
CACNA1F | chrX | Xp11.23 | Cone-rod dystrophy, X-linked, 3, 300476 (3), X-linked recessive; Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 (3), X-linked; Aland Island eye disease, 300600 (3), X-linked |
CACNA2D2 | chr3 | 3p21.3 | Cerebellar atrophy with seizures and variable developmental delay, 618501 (3), Autosomal recessive |
CACNA2D4 | chr12 | 12p13.3 | Retinal cone dystrophy 4, 610478 (3), Autosomal recessive |
CALCRL | chr2 | 2q31-q32 | ?Lymphatic malformation 8, 618773 (3), Autosomal recessive |
CANT1 | chr17 | 17q25.3 | Desbuquois dysplasia 1, 251450 (3), Autosomal recessive; Epiphyseal dysplasia, multiple, 7, 617719 (3), Autosomal recessive |
CAPN1 | chr11 | 11q13 | Spastic paraplegia 76, autosomal recessive, 616907 (3), Autosomal recessive |
CAPN3 | chr15 | 15q15.1-q21.1 | Muscular dystrophy, limb-girdle, autosomal recessive 1, 253600 (3), Autosomal recessive; Muscular dystrophy, limb-girdle, autosomal dominant 4, 618129 (3), Autosomal dominant |
CARD11 | chr7 | 7p22 | Immunodeficiency 11B with atopic dermatitis, 617638 (3), Autosomal dominant; B-cell expansion with NFKB and T-cell anergy, 616452 (3), Autosomal dominant; Immunodeficiency 11A, 615206 (3), Autosomal recessive |
CARD9 | chr9 | 9q34.3 | Candidiasis, familial, 2, autosomal recessive, 212050 (3), Autosomal recessive |
CARS2 | chr13 | 13q34 | Combined oxidative phosphorylation deficiency 27, 616672 (3), Autosomal recessive |
CARTPT | chr5 | 5q13.2 | {?Obesity, susceptibility to}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant |
CASK | chrX | Xp11.4 | Mental retardation, with or without nystagmus, 300422 (3); Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 (3), X-linked dominant; FG syndrome 4, 300422 (3) |
CASP10 | chr2 | 2q33-q34 | Lymphoma, non-Hodgkin, somatic, 605027 (3); Gastric cancer, somatic, 613659 (3); Autoimmune lymphoproliferative syndrome, type II, 603909 (3), Autosomal dominant |
CASP8 | chr2 | 2q33 | {Lung cancer, protection against}, 211980 (3), Somatic mutation, Autosomal dominant; ?Autoimmune lymphoproliferative syndrome, type IIB, 607271 (3), Autosomal recessive; Hepatocellular carcinoma, somatic, 114550 (3); {Breast cancer, protection against}, 114480 (3), Somatic mutation, Autosomal dominant |
CASQ2 | chr1 | 1p13.3-p11 | Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3), Autosomal recessive |
CASR | chr3 | 3q21.1 | Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3), Autosomal dominant; Hypocalciuric hypercalcemia, type I, 145980 (3), Autosomal dominant; {Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3); Hypocalcemia, autosomal dominant, 601198 (3), Autosomal dominant; Hyperparathyroidism, neonatal, 239200 (3), Autosomal recessive, Autosomal dominant |
CAST | chr5 | 5q15-q21 | Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3), Autosomal recessive |
CATSPER1 | chr11 | 11q13.1 | Spermatogenic failure 7, 612997 (3), Autosomal recessive |
CAV1 | chr7 | 7q31.1 | Lipodystrophy, familial partial, type 7, 606721 (3), Autosomal dominant; ?Lipodystrophy, congenital generalized, type 3, 612526 (3), Autosomal recessive; Pulmonary hypertension, primary, 3, 615343 (3), Autosomal dominant |
CAVIN1 | chr17 | 17q21 | Lipodystrophy, congenital generalized, type 4, 613327 (3), Autosomal recessive |
CBS | chr21 | 21q22.3 | Homocystinuria, B6-responsive and nonresponsive types, 236200 (3), Autosomal recessive; Thrombosis, hyperhomocysteinemic, 236200 (3), Autosomal recessive |
CBX2 | chr17 | 17q25 | ?46XY sex reversal 5, 613080 (3), Autosomal recessive |
CC2D1A | chr19 | 19p13.12 | Mental retardation, autosomal recessive 3, 608443 (3), Autosomal recessive |
CC2D2A | chr4 | 4p15.3 | Meckel syndrome 6, 612284 (3), Autosomal recessive; Joubert syndrome 9, 612285 (3), Autosomal recessive; COACH syndrome, 216360 (3), Autosomal recessive |
CCBE1 | chr18 | 18q21.32 | Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3), Autosomal recessive |
CCDC103 | chr17 | 17q21.31 | Ciliary dyskinesia, primary, 17, 614679 (3), Autosomal recessive |
CCDC114 | chr19 | 19q13.3 | Ciliary dyskinesia, primary, 20, 615067 (3), Autosomal recessive |
CCDC151 | chr19 | 19p13.2 | Ciliary dyskinesia, primary, 30, 616037 (3), Autosomal recessive |
CCDC22 | chrX | Xp11.23 | Ritscher-Schinzel syndrome 2, 300963 (3), X-linked recessive |
CCDC28B | chr1 | 1p35.1 | {Bardet-Biedl syndrome 1, modifier of}, 209900 (3), Digenic recessive, Autosomal recessive |
CCDC39 | chr3 | 3q26.33 | Ciliary dyskinesia, primary, 14, 613807 (3) |
CCDC40 | chr17 | 17q25.3 | Ciliary dyskinesia, primary, 15, 613808 (3) |
CCDC65 | chr12 | 12q13.12 | Ciliary dyskinesia, primary, 27, 615504 (3), Autosomal recessive |
CCDC8 | chr19 | 19q13.2-q13.32 | 3-M syndrome 3, 614205 (3), Autosomal recessive |
CCDC88C | chr14 | 14q32.11 | ?Spinocerebellar ataxia 40, 616053 (3), Autosomal dominant; Hydrocephalus, congenital, 1, 236600 (3), Autosomal recessive |
CCN6 | chr6 | 6q22-q23 | Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3), Autosomal recessive; Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3), Autosomal recessive |
CCNO | chr5 | 5q11.2 | Ciliary dyskinesia, primary, 29, 615872 (3), Autosomal recessive |
CCT5 | chr5 | 5p15.2 | Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3), Autosomal recessive |
CD19 | chr16 | 16p11.2 | Immunodeficiency, common variable, 3, 613493 (3), Autosomal recessive |
CD247 | chr1 | 1q22-q23 | ?Immunodeficiency 25, 610163 (3), Autosomal recessive |
CD27 | chr12 | 12p13 | Lymphoproliferative syndrome 2, 615122 (3), Autosomal recessive |
CD36 | chr7 | 7q21.11 | {Coronary heart disease, susceptibility to, 7}, 610938 (3); {Malaria, cerebral, susceptibility to}, 611162 (3); Platelet glycoprotein IV deficiency, 608404 (3), Autosomal recessive; {Malaria, cerebral, reduced risk of}, 611162 (3) |
CD3D | chr11 | 11q23 | Immunodeficiency 19, 615617 (3), Autosomal recessive |
CD3E | chr11 | 11q23 | Immunodeficiency 18, SCID variant, 615615 (3), Autosomal recessive; Immunodeficiency 18, 615615 (3), Autosomal recessive |
CD3G | chr11 | 11q23 | Immunodeficiency 17, CD3 gamma deficient, 615607 (3), Autosomal recessive |
CD40 | chr20 | 20q12-q13.2 | Immunodeficiency with hyper-IgM, type 3, 606843 (3), Autosomal recessive |
CD40LG | chrX | Xq26 | Immunodeficiency, X-linked, with hyper-IgM, 308230 (3), X-linked recessive |
CD46 | chr1 | 1q32 | {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 (3), Autosomal recessive, Autosomal dominant |
CD55 | chr1 | 1q32 | [Blood group Cromer], 613793 (3), Autosomal recessive; Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 (3), Autosomal recessive |
CD59 | chr11 | 11p13 | Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 (3), Autosomal recessive |
CD79A | chr19 | 19q13.2 | Agammaglobulinemia 3, 613501 (3), Autosomal recessive |
CD79B | chr17 | 17q23 | Agammaglobulinemia 6, 612692 (3), Autosomal recessive |
CD81 | chr11 | 11p | Immunodeficiency, common variable, 6, 613496 (3), Autosomal recessive |
CD8A | chr2 | 2p12 | CD8 deficiency, familial, 608957 (3), Autosomal recessive |
CDAN1 | chr15 | 15q15 | Dyserythropoietic anemia, congenital, type Ia, 224120 (3), Autosomal recessive |
CDC6 | chr17 | 17q21.2 | ?Meier-Gorlin syndrome 5, 613805 (3), Autosomal recessive |
CDH23 | chr10 | 10q21-q22 | {Pituitary adenoma 5, multiple types}, 617540 (3), Autosomal dominant; Deafness, autosomal recessive 12, 601386 (3), Autosomal recessive; Usher syndrome, type 1D/F digenic, 601067 (3), Digenic recessive, Autosomal recessive; Usher syndrome, type 1D, 601067 (3), Digenic recessive, Autosomal recessive |
CDH3 | chr16 | 16q22.1 | Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3), Autosomal recessive; Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3), Autosomal recessive |
CDHR1 | chr10 | 10q23.1 | Cone-rod dystrophy 15, 613660 (3), Autosomal recessive; Retinitis pigmentosa 65, 613660 (3), Autosomal recessive |
CDK5 | chr7 | 7q36 | ?Lissencephaly 7 with cerebellar hypoplasia, 616342 (3), Autosomal recessive |
CDK5RAP2 | chr9 | 9q33.3 | Microcephaly 3, primary, autosomal recessive, 604804 (3), Autosomal recessive |
CDK6 | chr7 | 7q21-q22 | ?Microcephaly 12, primary, autosomal recessive, 616080 (3), Autosomal recessive |
CDKL5 | chrX | Xp22 | Epileptic encephalopathy, early infantile, 2, 300672 (3), X-linked dominant |
CDSN | chr6 | 6p21.3 | Hypotrichosis 2, 146520 (3), Autosomal dominant; Peeling skin syndrome 1, 270300 (3), Autosomal recessive |
CDT1 | chr16 | 16q24.3 | Meier-Gorlin syndrome 4, 613804 (3), Autosomal recessive |
CEACAM16 | chr19 | 19q13.31 | Deafness, autosomal recessive 113, 618410 (3), Autosomal recessive; Deafness, autosomal dominant 4B, 614614 (3), Autosomal dominant |
CEBPE | chr14 | 14q11.2 | Specific granule deficiency, 245480 (3), Autosomal recessive |
CENPE | chr4 | 4q24-q25 | ?Microcephaly 13, primary, autosomal recessive, 616051 (3), Autosomal recessive |
CENPJ | chr13 | 13q12.2 | Microcephaly 6, primary, autosomal recessive, 608393 (3), Autosomal recessive; ?Seckel syndrome 4, 613676 (3), Autosomal recessive |
CEP120 | chr5 | 5q23.2 | Joubert syndrome 31, 617761 (3), Autosomal recessive; Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3), Autosomal recessive |
CEP135 | chr4 | 4q12 | Microcephaly 8, primary, autosomal recessive, 614673 (3), Autosomal recessive |
CEP152 | chr15 | 15q21.1 | Microcephaly 9, primary, autosomal recessive, 614852 (3), Autosomal recessive; Seckel syndrome 5, 613823 (3), Autosomal recessive |
CEP164 | chr11 | 11q23.3 | Nephronophthisis 15, 614845 (3), Autosomal recessive |
CEP19 | chr3 | 3q29 | Morbid obesity and spermatogenic failure, 615703 (3), Autosomal recessive |
CEP250 | chr20 | 20q11.2 | Cone-rod dystrophy and hearing loss 2, 618358 (3), Autosomal recessive |
CEP290 | chr12 | 12q21.3 | ?Bardet-Biedl syndrome 14, 615991 (3), Autosomal recessive; Leber congenital amaurosis 10, 611755 (3); Senior-Loken syndrome 6, 610189 (3), Autosomal recessive; Meckel syndrome 4, 611134 (3), Autosomal recessive; Joubert syndrome 5, 610188 (3), Autosomal recessive |
CEP41 | chr7 | 7q32 | Joubert syndrome 15, 614464 (3), Autosomal recessive |
CEP57 | chr11 | 11q21 | Mosaic variegated aneuploidy syndrome 2, 614114 (3), Autosomal recessive |
CEP63 | chr3 | 3q22.2 | ?Seckel syndrome 6, 614728 (3), Autosomal recessive |
CEP83 | chr12 | 12q22 | Nephronophthisis 18, 615862 (3), Autosomal recessive |
CERKL | chr2 | 2q31.3 | Retinitis pigmentosa 26, 608380 (3) |
CERKL | chr2 | 2q31.3 | Retinitis pigmentosa 26, 608380 (3) |
CERS3 | chr15 | 15q26.3 | Ichthyosis, congenital, autosomal recessive 9, 615023 (3), Autosomal recessive |
CFAP53 | chr18 | 18q21.1 | Heterotaxy, visceral, 6, autosomal recessive, 614779 (3), Autosomal recessive |
CFB | chr6 | 6p21.3 | ?Complement factor B deficiency, 615561 (3), Autosomal recessive; {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3); {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, 612924 (3), Autosomal dominant |
CFD | chr19 | 19p13.3 | Complement factor D deficiency, 613912 (3), Autosomal recessive |
CFH | chr1 | 1q32 | Complement factor H deficiency, 609814 (3), Autosomal recessive, Autosomal dominant; {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3), Autosomal recessive, Autosomal dominant; Basal laminar drusen, 126700 (3), Autosomal dominant; {Macular degeneration, age-related, 4}, 610698 (3) |
CFHR1 | chr1 | 1q31-q32.1 | {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3), Autosomal recessive, Autosomal dominant; {Macular degeneration, age-related, reduced risk of}, 603075 (3), Autosomal dominant |
CFHR3 | chr1 | 1q31-q32.1 | {Macular degeneration, age-related, reduced risk of}, 603075 (3), Autosomal dominant; {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3), Autosomal recessive, Autosomal dominant |
CFI | chr4 | 4q25 | {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 (3), Autosomal dominant; Complement factor I deficiency, 610984 (3), Autosomal recessive; {Macular degeneration, age-related, 13, susceptibility to}, 615439 (3), Autosomal dominant |
CFL2 | chr14 | 14q12 | Nemaline myopathy 7, autosomal recessive, 610687 (3), Autosomal recessive |
CFP | chrX | Xp11.4-p11.23 | Properdin deficiency, X-linked, 312060 (3), X-linked recessive |
CFTR | chr7 | 7q31.2 | {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3), Autosomal dominant; Sweat chloride elevation without CF (3); {Hypertrypsinemia, neonatal} (3); Cystic fibrosis, 219700 (3), Autosomal recessive; Congenital bilateral absence of vas deferens, 277180 (3), Autosomal recessive; {Pancreatitis, hereditary}, 167800 (3), Autosomal dominant |
CHAT | chr10 | 10q11.2 | Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3), Autosomal recessive |
CHIT1 | chr1 | 1q31-q32 | [Chitotriosidase deficiency], 614122 (3), Autosomal recessive |
CHKB | chr22 | 22q13 | Muscular dystrophy, congenital, megaconial type, 602541 (3), Autosomal recessive |
CHMP1A | chr16 | 16q24.3 | Pontocerebellar hypoplasia, type 8, 614961 (3), Autosomal recessive |
CHMP1B | chr18 | 18p11 | |
CHRDL1 | chrX | Xq22.1-q23 | Megalocornea 1, X-linked, 309300 (3), X-linked recessive |
CHRM3 | chr1 | 1q43 | Prune belly syndrome, 100100 (3), Autosomal recessive |
CHRNA1 | chr2 | 2q24-q32 | Myasthenic syndrome, congenital, 1A, slow-channel, 601462 (3), Autosomal dominant; Myasthenic syndrome, congenital, 1B, fast-channel, 608930 (3), Autosomal recessive, Autosomal dominant; Multiple pterygium syndrome, lethal type, 253290 (3), Autosomal recessive |
CHRNA3 | chr15 | 15q25.1 | {Lung cancer susceptibility 2}, 612052 (3); Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800 (3), Autosomal recessive |
CHRNB1 | chr17 | 17p12-p11 | ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 (3), Autosomal recessive; Myasthenic syndrome, congenital, 2A, slow-channel, 616313 (3), Autosomal dominant |
CHRND | chr2 | 2q33-q34 | ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323 (3), Autosomal recessive; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321 (3), Autosomal dominant; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3), Autosomal recessive; Multiple pterygium syndrome, lethal type, 253290 (3), Autosomal recessive |
CHRNE | chr17 | 17p13-p12 | Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3), Autosomal recessive, Autosomal dominant; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 (3), Autosomal recessive; Myasthenic syndrome, congenital, 4B, fast-channel, 616324 (3), Autosomal recessive |
CHRNG | chr2 | 2q33-q34 | Escobar syndrome, 265000 (3), Autosomal recessive; Multiple pterygium syndrome, lethal type, 253290 (3), Autosomal recessive |
CHST14 | chr15 | 15q14 | Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3), Autosomal recessive |
CHST3 | chr10 | 10q22.1 | Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3), Autosomal recessive |
CHST6 | chr16 | 16q22 | Macular corneal dystrophy, 217800 (3), Autosomal recessive |
CHST8 | chr19 | 19q13.1 | ?Peeling skin syndrome 3, 616265 (3), Autosomal recessive |
CHSY1 | chr15 | 15q26.3 | Temtamy preaxial brachydactyly syndrome, 605282 (3), Autosomal recessive |
CHUK | chr10 | 10q24 | Cocoon syndrome, 613630 (3) |
CIB2 | chr15 | 15q24 | Deafness, autosomal recessive 48, 609439 (3), Autosomal recessive; Usher syndrome, type IJ, 614869 (3), Autosomal recessive |
CIDEC | chr3 | 3p25 | ?Lipodystrophy, familial partial, type 5, 615238 (3), Autosomal recessive |
CIITA | chr16 | 16p13 | Bare lymphocyte syndrome, type II, complementation group A, 209920 (3), Autosomal recessive; {Rheumatoid arthritis, susceptibility to}, 180300 (3) |
CISD2 | chr4 | 4q22-q24 | Wolfram syndrome 2, 604928 (3), Autosomal recessive |
CKAP2L | chr2 | 2q13 | Filippi syndrome, 272440 (3), Autosomal recessive |
CLCF1 | chr11 | 11q13.3 | Cold-induced sweating syndrome 2, 610313 (3), Autosomal recessive |
CLCN1 | chr7 | 7q35 | Myotonia congenita, dominant, 160800 (3), Autosomal dominant; Myotonia levior, recessive (3); Myotonia congenita, recessive, 255700 (3), Autosomal recessive |
CLCN2 | chr3 | 3q26 | {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 (3), Autosomal dominant; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3), Autosomal dominant; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3), Autosomal dominant; Leukoencephalopathy with ataxia, 615651 (3), Autosomal recessive; Hyperaldosteronism, familial, type II, 605635 (3), Autosomal dominant |
CLCN5 | chrX | Xp11.22 | Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3), X-linked recessive; Dent disease, 300009 (3), X-linked recessive; Hypophosphatemic rickets, 300554 (3), X-linked recessive; Nephrolithiasis, type I, 310468 (3), X-linked recessive |
CLCN7 | chr16 | 16p13 | Osteopetrosis, autosomal recessive 4, 611490 (3), Autosomal recessive; Osteopetrosis, autosomal dominant 2, 166600 (3), Autosomal dominant; Hypopigmentation, organomegaly, and delayed myelination and development, 618541 (3), Autosomal dominant |
CLCNKA | chr1 | 1p36 | Bartter syndrome, type 4b, digenic, 613090 (3), Digenic recessive |
CLCNKB | chr1 | 1p36 | Bartter syndrome, type 3, 607364 (3), Autosomal recessive; Bartter syndrome, type 4b, digenic, 613090 (3), Digenic recessive |
CLDN1 | chr3 | 3q28-q29 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3), Autosomal recessive |
CLDN14 | chr21 | 21q22.3 | Deafness, autosomal recessive 29, 614035 (3), Autosomal recessive |
CLDN16 | chr3 | 3q27 | Hypomagnesemia 3, renal, 248250 (3), Autosomal recessive |
CLDN19 | chr1 | 1p34.2 | Hypomagnesemia 5, renal, with ocular involvement, 248190 (3), Autosomal recessive |
CLEC7A | chr12 | 12p13.2-p12.3 | {Aspergillosis, susceptibility to}, 614079 (3); Candidiasis, familial, 4, autosomal recessive, 613108 (3), Autosomal recessive |
CLIC2 | chrX | Xq28 | ?Mental retardation, X-linked, syndromic 32, 300886 (3), X-linked recessive |
CLIC5 | chr6 | 6p21.1-p12.1 | ?Deafness, autosomal recessive 103, 616042 (3), Autosomal recessive |
CLMP | chr11 | 11q24.1 | Congenital short bowel syndrome, 615237 (3), Autosomal recessive |
CLN3 | chr16 | 16p12.1 | Ceroid lipofuscinosis, neuronal, 3, 204200 (3), Autosomal recessive |
CLN5 | chr13 | 13q22.3 | Ceroid lipofuscinosis, neuronal, 5, 256731 (3), Autosomal recessive |
CLN6 | chr15 | 15q21-q23 | Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 (3), Autosomal recessive; Ceroid lipofuscinosis, neuronal, 6, 601780 (3), Autosomal recessive |
CLN8 | chr8 | 8p23 | Ceroid lipofuscinosis, neuronal, 8, 600143 (3), Autosomal recessive; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 (3), Autosomal recessive |
CLP1 | chr11 | 11q12.1 | Pontocerebellar hypoplasia, type 10, 615803 (3), Autosomal recessive |
CLPB | chr11 | 11q13.4 | 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3), Autosomal recessive |
CLPP | chr19 | 19p13.3 | Perrault syndrome 3, 614129 (3), Autosomal recessive |
CLRN1 | chr3 | 3q21-q25 | Retinitis pigmentosa 61, 614180 (3); Usher syndrome, type 3A, 276902 (3), Autosomal recessive |
CNGA1 | chr4 | 4p12-cen | |
CNGA3 | chr2 | 2q11 | Achromatopsia 2, 216900 (3), Autosomal recessive |
CNGB1 | chr16 | 16q21 | Retinitis pigmentosa 45, 613767 (3), Autosomal recessive |
CNGB3 | chr8 | 8q21-q22 | Achromatopsia 3, 262300 (3), Autosomal recessive |
CNNM2 | chr10 | 10q24.33 | Hypomagnesemia 6, renal, 613882 (3), Autosomal dominant; Hypomagnesemia, seizures, and mental retardation, 616418 (3), Autosomal recessive, Autosomal dominant |
CNNM4 | chr2 | 2q11.2 | Jalili syndrome, 217080 (3), Autosomal recessive |
CNPY3 | chr6 | 6pter-p12 | Epileptic encephalopathy, early infantile, 60, 617929 (3), Autosomal recessive |
CNTN1 | chr12 | 12q11-q12 | ?Myopathy, congenital, Compton-North, 612540 (3), Autosomal recessive |
CNTN2 | chr1 | 1q32.1 | ?Epilepsy, myoclonic, familial adult, 5, 615400 (3), Autosomal recessive |
CNTNAP1 | chr17 | 17q21 | Lethal congenital contracture syndrome 7, 616286 (3), Autosomal recessive; Hypomyelinating neuropathy, congenital, 3, 618186 (3), Autosomal recessive |
CNTNAP2 | chr7 | 7q35-q36 | {Autism susceptibility 15}, 612100 (3); Pitt-Hopkins like syndrome 1, 610042 (3), Autosomal recessive; Cortical dysplasia-focal epilepsy syndrome, 610042 (3), Autosomal recessive |
COA5 | chr2 | 2q11.2 | ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500 (3), Autosomal recessive |
COA6 | chr1 | 1q42.2 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 (3), Autosomal recessive |
COASY | chr17 | 17q12-q21 | Neurodegeneration with brain iron accumulation 6, 615643 (3), Autosomal recessive; Pontocerebellar hypoplasia, type 12, 618266 (3), Autosomal recessive |
COCH | chr14 | 14q12-q13 | ?Deafness, autosomal recessive 110, 618094 (3), Autosomal recessive; Deafness, autosomal dominant 9, 601369 (3), Autosomal dominant |
COG1 | chr17 | 17q25.1 | Congenital disorder of glycosylation, type IIg, 611209 (3), Autosomal recessive |
COG2 | chr1 | 1q42.2 | ?Congenital disorder of glycosylation, type IIq, 617395 (3), Autosomal recessive |
COG4 | chr16 | 16q22.1 | Saul-Wilson syndrome, 618150 (3), Autosomal dominant; Congenital disorder of glycosylation, type IIj, 613489 (3), Autosomal recessive |
COG5 | chr7 | 7q31 | Congenital disorder of glycosylation, type IIi, 613612 (3), Autosomal recessive |
COG6 | chr13 | 13q13.3 | Congenital disorder of glycosylation, type IIl, 614576 (3), Autosomal recessive; Shaheen syndrome, 615328 (3), Autosomal recessive |
COG7 | chr16 | 16p | Congenital disorder of glycosylation, type IIe, 608779 (3), Autosomal recessive |
COG8 | chr16 | 16q22.1 | Congenital disorder of glycosylation, type IIh, 611182 (3) |
COL11A1 | chr1 | 1p21 | Stickler syndrome, type II, 604841 (3), Autosomal dominant; Marshall syndrome, 154780 (3), Autosomal dominant; ?Deafness, autosomal dominant 37, 618533 (3), Autosomal dominant; {Lumbar disc herniation, susceptibility to}, 603932 (3); Fibrochondrogenesis 1, 228520 (3), Autosomal recessive |
COL11A2 | chr6 | 6p21.3 | Deafness, autosomal dominant 13, 601868 (3), Autosomal dominant; Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 (3), Autosomal recessive; Fibrochondrogenesis 2, 614524 (3), Autosomal recessive, Autosomal dominant; Deafness, autosomal recessive 53, 609706 (3), Autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840 (3), Autosomal dominant |
COL17A1 | chr10 | 10q24.3 | Epithelial recurrent erosion dystrophy, 122400 (3), Autosomal dominant; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3), Autosomal recessive; Epidermolysis bullosa, junctional, localisata variant, 226650 (3), Autosomal recessive |
COL18A1 | chr21 | 21q22.3 | Knobloch syndrome, type 1, 267750 (3), Autosomal recessive; Glaucoma, primary closed-angle, 618880 (3), Autosomal dominant |
COL1A1 | chr17 | 17q21.31-q22 | Osteogenesis imperfecta, type I, 166200 (3), Autosomal dominant; Osteogenesis imperfecta, type IV, 166220 (3), Autosomal dominant; Osteogenesis imperfecta, type II, 166210 (3), Autosomal dominant; {Bone mineral density variation QTL, osteoporosis}, 166710 (3), Autosomal dominant; Caffey disease, 114000 (3), Autosomal dominant; Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060 (3), Autosomal dominant; Osteogenesis imperfecta, type III, 259420 (3), Autosomal dominant |
COL1A2 | chr7 | 7q22.1 | {Osteoporosis, postmenopausal}, 166710 (3), Autosomal dominant; Ehlers-Danlos syndrome, cardiac valvular type, 225320 (3), Autosomal recessive; Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821 (3), Autosomal dominant; Osteogenesis imperfecta, type II, 166210 (3), Autosomal dominant; Osteogenesis imperfecta, type IV, 166220 (3), Autosomal dominant; Osteogenesis imperfecta, type III, 259420 (3), Autosomal dominant |
COL25A1 | chr4 | 4q25 | Fibrosis of extraocular muscles, congenital, 5, 616219 (3), Autosomal recessive |
COL27A1 | chr9 | 9q32 | Steel syndrome, 615155 (3), Autosomal recessive |
COL3A1 | chr2 | 2q32.2 | Ehlers-Danlos syndrome, vascular type, 130050 (3), Autosomal dominant; Polymicrogyria with or without vascular-type EDS, 618343 (3), Autosomal recessive |
COL4A3 | chr2 | 2q36-q37 | Alport syndrome 2, autosomal recessive, 203780 (3), Autosomal recessive; Alport syndrome 3, autosomal dominant, 104200 (3), Autosomal dominant; Hematuria, benign familial, 141200 (3), Autosomal dominant |
COL4A4 | chr2 | 2q36-q37 | Alport syndrome 2, autosomal recessive, 203780 (3), Autosomal recessive; Hematuria, familial benign, 141200 (3), Autosomal dominant |
COL4A5 | chrX | Xq22.3 | Alport syndrome 1, X-linked, 301050 (3), X-linked dominant |
COL4A6 | chrX | Xq22.3 | ?Deafness, X-linked 6, 300914 (3), X-linked recessive |
COL6A1 | chr21 | 21q22.3 | Ullrich congenital muscular dystrophy 1, 254090 (3), Autosomal recessive, Autosomal dominant; Bethlem myopathy 1, 158810 (3), Autosomal recessive, Autosomal dominant |
COL6A2 | chr21 | 21q22.3 | Bethlem myopathy 1, 158810 (3), Autosomal recessive, Autosomal dominant; Ullrich congenital muscular dystrophy 1, 254090 (3), Autosomal recessive, Autosomal dominant; ?Myosclerosis, congenital, 255600 (3), Autosomal recessive |
COL6A3 | chr2 | 2q37 | Bethlem myopathy 1, 158810 (3), Autosomal recessive, Autosomal dominant; Dystonia 27, 616411 (3), Autosomal recessive; Ullrich congenital muscular dystrophy 1, 254090 (3), Autosomal recessive, Autosomal dominant |
COL7A1 | chr3 | 3p21.3 | EBD inversa, 226600 (3), Autosomal recessive; Epidermolysis bullosa dystrophica, AR, 226600 (3), Autosomal recessive; Toenail dystrophy, isolated, 607523 (3), Autosomal dominant; EBD, localisata variant (3); EBD, Bart type, 132000 (3), Autosomal dominant; Transient bullous of the newborn, 131705 (3), Autosomal recessive, Autosomal dominant; Epidermolysis bullosa dystrophica, AD, 131750 (3), Autosomal dominant; Epidermolysis bullosa pruriginosa, 604129 (3), Autosomal recessive, Autosomal dominant; Epidermolysis bullosa, pretibial, 131850 (3), Autosomal recessive, Autosomal dominant |
COL9A2 | chr1 | 1p34.2 | ?Stickler syndrome, type V, 614284 (3), Autosomal recessive; Epiphyseal dysplasia, multiple, 2, 600204 (3), Autosomal dominant |
COLEC11 | chr2 | 2p25.3 | 3MC syndrome 2, 265050 (3), Autosomal recessive |
COLQ | chr3 | 3p25 | Myasthenic syndrome, congenital, 5, 603034 (3), Autosomal recessive |
COQ2 | chr4 | 4q21-q22 | {Multiple system atrophy, susceptibility to}, 146500 (3), Autosomal recessive, Autosomal dominant; Coenzyme Q10 deficiency, primary, 1, 607426 (3), Autosomal recessive |
COQ4 | chr9 | 9q34.13 | Coenzyme Q10 deficiency, primary, 7, 616276 (3), Autosomal recessive |
COQ6 | chr14 | 14q24.3 | Coenzyme Q10 deficiency, primary, 6, 614650 (3), Autosomal recessive |
COQ8A | chr1 | 1q42.2 | Coenzyme Q10 deficiency, primary, 4, 612016 (3), Autosomal recessive |
COQ8B | chr19 | 19q13.1 | Nephrotic syndrome, type 9, 615573 (3), Autosomal recessive |
COQ9 | chr16 | 16q13 | Coenzyme Q10 deficiency, primary, 5, 614654 (3), Autosomal recessive |
CORO1A | chr16 | 16p11.2 | Immunodeficiency 8, 615401 (3), Autosomal recessive |
COX10 | chr17 | 17p12-p11.2 | Mitochondrial complex IV deficiency, 220110 (3), Mitochondrial, Autosomal recessive; Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3), Mitochondrial, Autosomal recessive |
COX14 | chr12 | 12q13.12 | ?Mitochondrial complex IV deficiency, 220110 (3), Mitochondrial, Autosomal recessive |
COX15 | chr10 | 10q24 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3), Autosomal recessive; Leigh syndrome due to cytochrome c oxidase deficiency, 256000 (3), Mitochondrial, Autosomal recessive |
COX20 | chr1 | 1q44 | Mitochondrial complex IV deficiency, 220110 (3), Mitochondrial, Autosomal recessive |
COX4I2 | chr20 | 20q11.21 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 (3), Autosomal recessive |
COX6A1 | chr12 | 12q24.2 | Charcot-Marie-Tooth disease, recessive intermediate D, 616039 (3), Autosomal recessive |
COX6B1 | chr19 | 19q13.1 | Mitochondrial complex IV deficiency, 220110 (3), Mitochondrial, Autosomal recessive |
CP | chr3 | 3q23-q24 | [Hypoceruloplasminemia, hereditary], 604290 (3), Autosomal recessive; Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3), Autosomal recessive; Cerebellar ataxia, 604290 (3), Autosomal recessive |
CPA6 | chr8 | 8q13 | Febrile seizures, familial, 11, 614418 (3), Autosomal recessive; Epilepsy, familial temporal lobe, 5, 614417 (3), Autosomal recessive, Autosomal dominant |
CPN1 | chr10 | 10q24.2 | Carboxypeptidase N deficiency, 212070 (3), Autosomal recessive |
CPOX | chr3 | 3q12 | Harderoporphyria, 618892 (3), Autosomal recessive; Coproporphyria, 121300 (3), Autosomal recessive, Autosomal dominant |
CPS1 | chr2 | 2q35 | Carbamoylphosphate synthetase I deficiency, 237300 (3), Autosomal recessive; {Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3) |
CPT1A | chr11 | 11q13 | CPT deficiency, hepatic, type IA, 255120 (3), Autosomal recessive |
CPT2 | chr1 | 1p32 | CPT II deficiency, myopathic, stress-induced, 255110 (3), Autosomal recessive, Autosomal dominant; CPT II deficiency, infantile, 600649 (3), Autosomal recessive; CPT II deficiency, lethal neonatal, 608836 (3), Autosomal recessive; {Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 (3), Autosomal recessive, Autosomal dominant |
CR2 | chr1 | 1q32 | {Systemic lupus erythematosus, susceptibility to, 9}, 610927 (3); Immunodeficiency, common variable, 7, 614699 (3), Autosomal recessive |
CRADD | chr12 | 12q21.33-q23.1 | Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499 (3), Autosomal recessive |
CRAT | chr9 | 9q34.1 | ?Neurodegeneration with brain iron accumulation 8, 617917 (3), Autosomal recessive |
CRB1 | chr1 | 1q31-q32.1 | Pigmented paravenous chorioretinal atrophy, 172870 (3), Autosomal dominant; Retinitis pigmentosa-12, 600105 (3), Autosomal recessive; Leber congenital amaurosis 8, 613835 (3), Autosomal recessive |
CRB2 | chr9 | 9q33.3 | Ventriculomegaly with cystic kidney disease, 219730 (3), Autosomal recessive; Focal segmental glomerulosclerosis 9, 616220 (3), Autosomal recessive |
CRBN | chr3 | 3p26.2 | Mental retardation, autosomal recessive 2, 607417 (3), Autosomal recessive |
CREB3L1 | chr11 | 11p11.2 | Osteogenesis imperfecta, type XVI, 616229 (3), Autosomal recessive |
CRIPT | chr2 | 2p21 | Short stature with microcephaly and distinctive facies, 615789 (3), Autosomal recessive |
CRLF1 | chr19 | 19p12 | Cold-induced sweating syndrome 1, 272430 (3), Autosomal recessive |
CRTAP | chr3 | 3p22 | Osteogenesis imperfecta, type VII, 610682 (3), Autosomal recessive |
CRYAA | chr21 | 21q22.3 | Cataract 9, multiple types, 604219 (3), Autosomal recessive, Autosomal dominant |
CRYAB | chr11 | 11q22.3-q23.1 | Myopathy, myofibrillar, 2, 608810 (3), Autosomal dominant; Cardiomyopathy, dilated, 1II, 615184 (3), Autosomal dominant; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 (3), Autosomal recessive; Cataract 16, multiple types, 613763 (3), Autosomal recessive, Autosomal dominant |
CRYBB1 | chr22 | 22q11.2-q12.1 | Cataract 17, multiple types, 611544 (3), Autosomal recessive, Autosomal dominant |
CRYBB3 | chr22 | 22q11.2-q12.2 | Cataract 22, 609741 (3), Autosomal recessive, Autosomal dominant |
CSF1R | chr5 | 5q32 | Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 (3), Autosomal recessive; Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3), Autosomal dominant |
CSF2RB | chr22 | 22q12.2-q13.1 | Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3), Autosomal recessive |
CSF3R | chr1 | 1p35-p34.3 | Neutropenia, severe congenital, 7, autosomal recessive, 617014 (3), Autosomal recessive |
CSGALNACT1 | chr8 | 8p21.3 | Skeletal dysplasia, mild, with joint laxity and advanced bone age, 618870 (3), Autosomal recessive |
CSPP1 | chr8 | 8q13.2 | Joubert syndrome 21, 615636 (3), Autosomal recessive |
CST6 | chr11 | 11q13 | ?Ectodermal dysplasia 15, hypohidrotic/hair type, 618535 (3), Autosomal recessive |
CSTA | chr3 | 3q21 | Peeling skin syndrome 4, 607936 (3), Autosomal recessive |
CSTB | chr21 | 21q22.3 | Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3), Autosomal recessive |
CTC1 | chr17 | 17p13.1 | Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3), Autosomal recessive |
CTDP1 | chr18 | 18q23 | Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3), Autosomal recessive |
CTH | chr1 | 1p31.1 | Cystathioninuria, 219500 (3), Autosomal recessive |
CTNNA2 | chr2 | 2p12-p11.1 | Cortical dysplasia, complex, with other brain malformations 9, 618174 (3), Autosomal recessive |
CTNS | chr17 | 17p13 | Cystinosis, nephropathic, 219800 (3), Autosomal recessive; Cystinosis, ocular nonnephropathic, 219750 (3), Autosomal recessive; Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3), Autosomal recessive; Cystinosis, atypical nephropathic, 219800 (3), Autosomal recessive |
CTPS1 | chr1 | 1p34.1 | Immunodeficiency 24, 615897 (3), Autosomal recessive |
CTSA | chr20 | 20q13.1 | Galactosialidosis, 256540 (3), Autosomal recessive |
CTSC | chr11 | 11q14.1-q14.3 | Periodontitis 1, juvenile, 170650 (3), Autosomal recessive; Papillon-Lefevre syndrome, 245000 (3), Autosomal recessive; Haim-Munk syndrome, 245010 (3), Autosomal recessive |
CTSD | chr11 | 11p15.5 | Ceroid lipofuscinosis, neuronal, 10, 610127 (3), Autosomal recessive |
CTSF | chr11 | 11q13.1 | Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3), Autosomal recessive |
CTSK | chr1 | 1q21 | Pycnodysostosis, 265800 (3), Autosomal recessive |
CUBN | chr10 | 10p12.1 | [Proteinuria, chronic benign], 618884 (3), Autosomal recessive; Imerslund-Grasbeck syndrome 1, 261100 (3), Autosomal recessive |
CUL4B | chrX | Xq23 | Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3), X-linked recessive |
CUL7 | chr6 | 6p21.1 | 3-M syndrome 1, 273750 (3), Autosomal recessive |
CWF19L1 | chr10 | 10q24.31 | Spinocerebellar ataxia, autosomal recessive 17, 616127 (3), Autosomal recessive |
CYB5A | chr18 | 18q23 | Methemoglobinemia and ambiguous genitalia, 250790 (3), Autosomal recessive |
CYB5R3 | chr22 | 22q13.31-qter | Methemoglobinemia, type I, 250800 (3), Autosomal recessive; Methemoglobinemia, type II, 250800 (3), Autosomal recessive |
CYBA | chr16 | 16q24 | Chronic granulomatous disease 4, autosomal recessive, 233690 (3), Autosomal recessive |
CYBB | chrX | Xp21.1 | Immunodeficiency 34, mycobacteriosis, X-linked, 300645 (3), X-linked recessive; Chronic granulomatous disease, X-linked, 306400 (3), X-linked recessive |
CYC1 | chr8 | 8q24.3 | Mitochondrial complex III deficiency, nuclear type 6, 615453 (3), Autosomal recessive |
CYP11A1 | chr15 | 15q24.1 | Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3) |
CYP11B1 | chr8 | 8q21 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3), Autosomal recessive; Aldosteronism, glucocorticoid-remediable, 103900 (3), Autosomal dominant |
CYP11B2 | chr8 | 8q21 | Aldosterone to renin ratio raised (3); Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3), Autosomal recessive; {Low renin hypertension, susceptibility to} (3); Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3), Autosomal recessive |
CYP17A1 | chr10 | 10q24.3 | 17-alpha- hydroxylase/17,20-lyase deficiency, 202110 (3), Autosomal recessive; 17,20-lyase deficiency, isolated, 202110 (3), Autosomal recessive |
CYP1B1 | chr2 | 2p22-p21 | Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3), Autosomal recessive; Anterior segment dysgenesis 6, multiple subtypes, 617315 (3) |
CYP21A2 | chr6 | 6p21.3 | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3), Autosomal recessive; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3), Autosomal recessive |
CYP24A1 | chr20 | 20q13.2-q13.3 | Hypercalcemia, infantile, 1, 143880 (3), Autosomal recessive |
CYP26C1 | chr10 | 10q23.3 | Focal facial dermal dysplasia 4, 614974 (3), Autosomal recessive |
CYP27A1 | chr2 | 2q33-qter | Cerebrotendinous xanthomatosis, 213700 (3), Autosomal recessive |
CYP27B1 | chr12 | 12q13.1-q13.3 | Vitamin D-dependent rickets, type I, 264700 (3), Autosomal recessive |
CYP2C19 | chr10 | 10q24.1-q24.3 | Clopidogrel, impaired responsiveness to, 609535 (3), Autosomal recessive; Mephenytoin poor metabolizer, 609535 (3), Autosomal recessive; Proguanil poor metabolizer, 609535 (3), Autosomal recessive; Omeprazole poor metabolizer, 609535 (3), Autosomal recessive |
CYP2D6 | chr22 | 22q13.1 | {Debrisoquine sensitivity}, 608902 (3), Autosomal recessive; {Codeine sensitivity}, 608902 (3), Autosomal recessive |
CYP2R1 | chr11 | 11p15.2 | Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3), Autosomal recessive |
CYP2U1 | chr4 | 4q25 | Spastic paraplegia 56, autosomal recessive, 615030 (3), Autosomal recessive |
CYP4F22 | chr19 | 19p13.12 | Ichthyosis, congenital, autosomal recessive 5, 604777 (3), Autosomal recessive |
CYP4V2 | chr4 | 4q35.1 | Bietti crystalline corneoretinal dystrophy, 210370 (3), Autosomal recessive |
CYP7B1 | chr8 | 8q21.3 | Spastic paraplegia 5A, autosomal recessive, 270800 (3), Autosomal recessive; Bile acid synthesis defect, congenital, 3, 613812 (3), Autosomal recessive |
D2HGDH | chr2 | 2q37.3 | D-2-hydroxyglutaric aciduria, 600721 (3), Autosomal recessive |
DAG1 | chr3 | 3p21 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 (3), Autosomal recessive |
DARS2 | chr1 | 1q25.1 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3), Autosomal recessive |
DBH | chr9 | 9q34 | Orthostatic hypotension 1, due to DBH deficiency, 223360 (3), Autosomal recessive |
DBT | chr1 | 1p31 | Maple syrup urine disease, type II, 248600 (3), Autosomal recessive |
DCAF17 | chr2 | 2q22.3-q35 | Woodhouse-Sakati syndrome, 241080 (3), Autosomal recessive |
DCC | chr18 | 18q21.3 | Esophageal carcinoma, somatic, 133239 (3); Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3), Autosomal recessive; Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3), Autosomal dominant; Colorectal cancer, somatic, 114500 (3) |
DCDC2 | chr6 | 6p22.1 | Sclerosing cholangitis, neonatal, 617394 (3), Autosomal recessive; Nephronophthisis 19, 616217 (3), Autosomal recessive; ?Deafness, autosomal recessive 66, 610212 (3), Autosomal recessive |
DCHS1 | chr11 | 11p15.4 | Mitral valve prolapse 2, 607829 (3), Autosomal dominant; Van Maldergem syndrome 1, 601390 (3), Autosomal recessive |
DCLRE1C | chr10 | 10p | Omenn syndrome, 603554 (3), Autosomal recessive; Severe combined immunodeficiency, Athabascan type, 602450 (3), Autosomal recessive |
DCPS | chr11 | 11q24.2 | Al-Raqad syndrome, 616459 (3), Autosomal recessive |
DCTN1 | chr2 | 2p13 | {Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3), Autosomal recessive, Autosomal dominant; Perry syndrome, 168605 (3), Autosomal dominant; Neuronopathy, distal hereditary motor, type VIIB, 607641 (3), Autosomal dominant |
DCX | chrX | Xq22.3-q23 | Subcortical laminal heterotopia, X-linked, 300067 (3), X-linked; Lissencephaly, X-linked, 300067 (3), X-linked |
DCXR | chr17 | 17q25.3 | [Pentosuria], 260800 (3), Autosomal recessive |
DDB2 | chr11 | 11p12-p11 | Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3), Autosomal recessive |
DDC | chr7 | 7p11 | Aromatic L-amino acid decarboxylase deficiency, 608643 (3), Autosomal recessive |
DDHD1 | chr14 | 14q22.1 | Spastic paraplegia 28, autosomal recessive, 609340 (3), Autosomal recessive |
DDHD2 | chr8 | 8p11.23 | Spastic paraplegia 54, autosomal recessive, 615033 (3), Autosomal recessive |
DDOST | chr1 | 1p36.1 | ?Congenital disorder of glycosylation, type Ir, 614507 (3), Autosomal recessive |
DDR2 | chr1 | 1q12-qter | Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3), Autosomal recessive; Warburg-Cinotti syndrome, 618175 (3), Autosomal dominant |
DDRGK1 | chr20 | 20p13 | Spondyloepimetaphyseal dysplasia, Shohat type, 602557 (3), Autosomal recessive |
DDX11 | chr12 | 12p11 | Warsaw breakage syndrome, 613398 (3), Autosomal recessive |
DDX3X | chrX | Xp11.3-p11.23 | Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type, 300958 (3), X-linked dominant, X-linked recessive |
DDX59 | chr1 | 1q32.1 | Orofaciodigital syndrome V, 174300 (3), Autosomal recessive |
DEAF1 | chr11 | 11p15.5 | Vulto-van Silfout-de Vries syndrome, 615828 (3), Autosomal dominant; Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, 617171 (3), Autosomal recessive |
DENND5A | chr11 | 11p15.4 | Epileptic encephalopathy, early infantile, 49, 617281 (3), Autosomal recessive |
DES | chr2 | 2q35 | ?Cardiomyopathy, dilated, 1I, 604765 (3), Autosomal dominant; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3), Autosomal dominant; Myopathy, myofibrillar, 1, 601419 (3), Autosomal recessive, Autosomal dominant |
DGAT1 | chr8 | 8q24.3 | ?Diarrhea 7, protein-losing enteropathy type, 615863 (3), Autosomal recessive |
DGKE | chr17 | 17q22 | {Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008 (3), Autosomal recessive; Nephrotic syndrome, type 7, 615008 (3), Autosomal recessive |
DGUOK | chr2 | 2p13 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 (3), Autosomal recessive; Portal hypertension, noncirrhotic, 617068 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3), Autosomal recessive |
DHCR24 | chr1 | 1p33-p31.1 | Desmosterolosis, 602398 (3), Autosomal recessive |
DHCR7 | chr11 | 11q12-q13 | Smith-Lemli-Opitz syndrome, 270400 (3), Autosomal recessive |
DHDDS | chr1 | 1p36.11 | Retinitis pigmentosa 59, 613861 (3), Autosomal recessive; Developmental delay and seizures with or without movement abnormalities, 617836 (3), Autosomal dominant; ?Congenital disorder of glycosylation, type 1bb, 613861 (3), Autosomal recessive |
DHFR | chr5 | 5q11.2-q13.2 | Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 (3), Autosomal recessive |
DHH | chr12 | 12q13.1 | 46XY sex reversal 7, 233420 (3), Autosomal recessive; 46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080 (3) |
DHODH | chr16 | 16q22 | Miller syndrome, 263750 (3), Autosomal recessive |
DHTKD1 | chr10 | 10p14 | 2-aminoadipic 2-oxoadipic aciduria, 204750 (3), Autosomal recessive; ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3), Autosomal dominant |
DHX37 | chr12 | 12q24.31 | Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, 618731 (3), Autosomal recessive; 46, XY sex reversal 11, 273250 (3), Autosomal dominant |
DHX38 | chr16 | 16q21-q22 | Retinitis pigmentosa 84, 618220 (3), Autosomal recessive |
DIAPH1 | chr5 | 5q31 | Seizures, cortical blindness, microcephaly syndrome, 616632 (3), Autosomal recessive; Deafness, autosomal dominant 1, with or without thrombocytopenia, 124900 (3), Autosomal dominant |
DIS3L2 | chr2 | 2q37.2 | Perlman syndrome, 267000 (3), Autosomal recessive |
DKC1 | chrX | Xq28 | Dyskeratosis congenita, X-linked, 305000 (3), X-linked recessive |
DLAT | chr11 | 11q23.1 | Pyruvate dehydrogenase E2 deficiency, 245348 (3), Autosomal recessive |
DLD | chr7 | 7q31-q32 | Dihydrolipoamide dehydrogenase deficiency, 246900 (3), Autosomal recessive |
DLG3 | chrX | Xq13.1 | Mental retardation, X-linked 90, 300850 (3), X-linked recessive |
DLL3 | chr19 | 19q13 | Spondylocostal dysostosis 1, autosomal recessive, 277300 (3), Autosomal recessive |
DLX5 | chr7 | 7q22 | Split-hand/foot malformation 1, 183600 (3), Autosomal dominant; ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600 (3), Autosomal recessive |
DMD | chrX | Xp21.2 | Cardiomyopathy, dilated, 3B, 302045 (3), X-linked; Becker muscular dystrophy, 300376 (3), X-linked recessive; Duchenne muscular dystrophy, 310200 (3), X-linked recessive |
DMGDH | chr5 | 5q12.2-q12.3 | Dimethylglycine dehydrogenase deficiency, 605850 (3), Autosomal recessive |
DMP1 | chr4 | 4q21 | Hypophosphatemic rickets, AR, 241520 (3), Autosomal recessive |
DMXL2 | chr15 | 15q21.2 | ?Deafness, autosomal dominant 71, 617605 (3), Autosomal dominant; ?Polyendocrine-polyneuropathy syndrome, 616113 (3), Autosomal recessive; Epileptic encephalopathy, early infantile, 81, 618663 (3), Autosomal recessive |
DNA2 | chr10 | 10q21.3-q22.1 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3), Autosomal dominant; ?Seckel syndrome 8, 615807 (3), Autosomal recessive |
DNAAF1 | chr16 | 16q24.1 | Ciliary dyskinesia, primary, 13, 613193 (3), Autosomal recessive |
DNAAF2 | chr14 | 14q21.3 | Ciliary dyskinesia, primary, 10, 612518 (3) |
DNAAF3 | chr19 | 19q13.4 | Ciliary dyskinesia, primary, 2, 606763 (3), Autosomal recessive |
DNAAF4 | chr15 | 15q21 | {Dyslexia, susceptibility to, 1}, 127700 (3), Autosomal dominant; Ciliary dyskinesia, primary, 25, 615482 (3), Autosomal recessive |
DNAAF5 | chr7 | 7p22.3 | Ciliary dyskinesia, primary, 18, 614874 (3), Autosomal recessive |
DNAH1 | chr3 | 3p21.3 | ?Ciliary dyskinesia, primary, 37, 617577 (3), Autosomal recessive; Spermatogenic failure 18, 617576 (3), Autosomal recessive |
DNAH11 | chr7 | 7p21 | Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3), Autosomal recessive |
DNAH5 | chr5 | 5p15-p14 | Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3) |
DNAH9 | chr17 | 17p12 | Ciliary dyskinesia, primary, 40, 618300 (3), Autosomal recessive |
DNAI1 | chr9 | 9p13.3 | Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3), Autosomal recessive |
DNAI2 | chr17 | 17q25 | Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3) |
DNAJB2 | chr2 | 2q35 | Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 (3), Autosomal recessive |
DNAJC19 | chr3 | 3q26.3 | 3-methylglutaconic aciduria, type V, 610198 (3), Autosomal recessive |
DNAJC3 | chr13 | 13q32 | ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192 (3), Autosomal recessive |
DNAJC6 | chr1 | 1p32.1-p31.3 | Parkinson disease 19b, early-onset, 615528 (3), Autosomal recessive; Parkinson disease 19a, juvenile-onset, 615528 (3), Autosomal recessive |
DNAL1 | chr14 | 14q24.3 | Ciliary dyskinesia, primary, 16, 614017 (3), Autosomal recessive |
DNAL4 | chr22 | 22q13.1 | ?Mirror movements 3, 616059 (3), Autosomal recessive |
DNASE1L3 | chr3 | 3p21.1-p14.3 | Systemic lupus erythematosus 16, 614420 (3), Autosomal recessive |
DNM1L | chr12 | 12p11.21 | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3), Autosomal recessive, Autosomal dominant; Optic atrophy 5, 610708 (3), Autosomal dominant |
DNM2 | chr19 | 19p13.2 | Lethal congenital contracture syndrome 5, 615368 (3), Autosomal recessive; Charcot-Marie-Tooth disease, axonal type 2M, 606482 (3), Autosomal dominant; Centronuclear myopathy 1, 160150 (3), Autosomal dominant; Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3), Autosomal dominant |
DNMT3B | chr20 | 20q11.2 | Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3), Autosomal recessive |
DOCK3 | chr3 | 3p14 | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, 618292 (3), Autosomal recessive |
DOCK6 | chr19 | 19p13.2 | Adams-Oliver syndrome 2, 614219 (3), Autosomal recessive |
DOCK7 | chr1 | 1p31.3 | Epileptic encephalopathy, early infantile, 23, 615859 (3), Autosomal recessive |
DOCK8 | chr9 | 9p24 | Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3), Autosomal recessive |
DOK7 | chr4 | 4p16.2 | Fetal akinesia deformation sequence 3, 618389 (3), Autosomal recessive; Myasthenic syndrome, congenital, 10, 254300 (3), Autosomal recessive |
DOLK | chr9 | 9q34.11 | Congenital disorder of glycosylation, type Im, 610768 (3), Autosomal recessive |
DPAGT1 | chr11 | 11q23.3 | Congenital disorder of glycosylation, type Ij, 608093 (3), Autosomal recessive; Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3), Autosomal recessive |
DPH1 | chr17 | 17p13.3 | Developmental delay with short stature, dysmorphic facial features, and sparse hair, 616901 (3), Autosomal recessive |
DPM1 | chr20 | 20q13.13 | Congenital disorder of glycosylation, type Ie, 608799 (3), Autosomal recessive |
DPM2 | chr9 | 9q34.11 | Congenital disorder of glycosylation, type Iu, 615042 (3), Autosomal recessive |
DPM3 | chr1 | 1q12-q21 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 (3), Autosomal recessive |
DPY19L2 | chr12 | 12q14.2 | Spermatogenic failure 9, 613958 (3), Autosomal recessive |
DPYD | chr1 | 1p22 | Dihydropyrimidine dehydrogenase deficiency, 274270 (3), Autosomal recessive; 5-fluorouracil toxicity, 274270 (3), Autosomal recessive |
DPYS | chr8 | 8q22 | Dihydropyrimidinuria, 222748 (3), Autosomal recessive |
DRC1 | chr2 | 2p23.3 | Ciliary dyskinesia, primary, 21, 615294 (3), Autosomal recessive |
DSC2 | chr18 | 18q12.1 | Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 (3), Autosomal recessive, Autosomal dominant; Arrhythmogenic right ventricular dysplasia 11, 610476 (3), Autosomal recessive, Autosomal dominant |
DSC3 | chr18 | 18q12.1 | ?Hypotrichosis and recurrent skin vesicles, 613102 (3), Autosomal recessive |
DSE | chr6 | 6q22 | Ehlers-Danlos syndrome, musculocontractural type 2, 615539 (3), Autosomal recessive |
DSG1 | chr18 | 18q12.1-q12.2 | Keratosis palmoplantaris striata I, AD, 148700 (3), Autosomal dominant; Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3), Autosomal recessive |
DSG4 | chr18 | 18q12 | Hypotrichosis 6, 607903 (3), Autosomal recessive |
DSP | chr6 | 6p24 | Keratosis palmoplantaris striata II, 612908 (3), Autosomal dominant; Arrhythmogenic right ventricular dysplasia 8, 607450 (3), Autosomal dominant; Epidermolysis bullosa, lethal acantholytic, 609638 (3), Autosomal recessive; Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3), Autosomal recessive; Skin fragility-woolly hair syndrome, 607655 (3), Autosomal recessive; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3), Autosomal dominant |
DST | chr6 | 6p12-p11 | ?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3), Autosomal recessive; Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3), Autosomal recessive |
DSTYK | chr1 | 1q32.1 | Congenital anomalies of kidney and urinary tract 1, 610805 (3), Autosomal dominant; Spastic paraplegia 23, 270750 (3), Autosomal recessive |
DTNBP1 | chr6 | 6p22.3 | Hermansky-Pudlak syndrome 7, 614076 (3), Autosomal recessive |
DUOX2 | chr15 | 15q15.3 | Thyroid dyshormonogenesis 6, 607200 (3), Autosomal recessive |
DUOXA2 | chr15 | 15q15 | Thyroid dyshormonogenesis 5, 274900 (3), Autosomal recessive |
DYM | chr18 | 18q12-q21.1 | Smith-McCort dysplasia, 607326 (3), Autosomal recessive; Dyggve-Melchior-Clausen disease, 223800 (3), Autosomal recessive |
DYNC2H1 | chr11 | 11q22.3 | Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3), Digenic recessive, Autosomal recessive |
DYSF | chr2 | 2p13.3-p13.1 | Miyoshi muscular dystrophy 1, 254130 (3), Autosomal recessive; Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601 (3), Autosomal recessive; Myopathy, distal, with anterior tibial onset, 606768 (3), Autosomal recessive |
EARS2 | chr16 | 16p13.1-p11.2 | Combined oxidative phosphorylation deficiency 12, 614924 (3), Autosomal recessive |
EBP | chrX | Xp11.23-p11.22 | Chondrodysplasia punctata, X-linked dominant, 302960 (3), X-linked dominant; MEND syndrome, 300960 (3), X-linked recessive |
ECEL1 | chr2 | 2q36-q37 | Arthrogryposis, distal, type 5D, 615065 (3), Autosomal recessive |
ECHS1 | chr10 | 10q26.2-q26.3 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3), Autosomal recessive |
ECM1 | chr1 | 1q21 | Urbach-Wiethe disease, 247100 (3), Autosomal recessive |
EDA | chrX | Xq12-q13.1 | Tooth agenesis, selective, X-linked 1, 313500 (3), X-linked dominant; Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3), X-linked recessive |
EDAR | chr2 | 2q11-q13 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 (3), Autosomal dominant; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3), Autosomal recessive; [Hair morphology 1, hair thickness], 612630 (3) |
EDARADD | chr1 | 1q42.2-q43 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 (3), Autosomal recessive; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 (3), Autosomal dominant |
EDN1 | chr6 | 6p24-p23 | Auriculocondylar syndrome 3, 615706 (3), Autosomal recessive; {High density lipoprotein cholesterol level QTL 7} (3); Question mark ears, isolated, 612798 (3), Autosomal dominant |
EDN3 | chr20 | 20q13.2-q13.3 | Waardenburg syndrome, type 4B, 613265 (3), Autosomal recessive, Autosomal dominant; Central hypoventilation syndrome, congenital, 209880 (3), Autosomal dominant; {Hirschsprung disease, susceptibility to, 4}, 613712 (3), Autosomal dominant |
EDNRB | chr13 | 13q22 | {Hirschsprung disease, susceptibility to, 2}, 600155 (3), Autosomal dominant; Waardenburg syndrome, type 4A, 277580 (3), Autosomal recessive, Autosomal dominant; ABCD syndrome, 600501 (3), Autosomal recessive |
EFEMP2 | chr11 | 11q13 | Cutis laxa, autosomal recessive, type IB, 614437 (3), Autosomal recessive |
EFNB1 | chrX | Xq12 | Craniofrontonasal dysplasia, 304110 (3), X-linked dominant |
EGFR | chr7 | 7p12.3-p12.1 | ?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3), Autosomal recessive; Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3), Somatic mutation, Autosomal dominant; Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3), Somatic mutation, Autosomal dominant; {Nonsmall cell lung cancer, susceptibility to}, 211980 (3), Somatic mutation, Autosomal dominant |
EGR2 | chr10 | 10q21.1-q22.1 | Dejerine-Sottas disease, 145900 (3), Autosomal recessive, Autosomal dominant; Hypomyelinating neuropathy, congenital, 1, 605253 (3), Autosomal recessive, Autosomal dominant; Charcot-Marie-Tooth disease, type 1D, 607678 (3), Autosomal dominant |
EIF2AK3 | chr2 | 2p12 | Wolcott-Rallison syndrome, 226980 (3), Autosomal recessive |
EIF2AK4 | chr15 | 15q15.1 | Pulmonary venoocclusive disease 2, 234810 (3), Autosomal recessive |
EIF2B1 | chr12 | 12q24.31 | Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive |
EIF2B2 | chr14 | 14q24 | Ovarioleukodystrophy, 603896 (3), Autosomal recessive; Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive |
EIF2B3 | chr1 | 1p34.1 | Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive |
EIF2B4 | chr2 | 2p23.3 | Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive; Ovarioleukodystrophy, 603896 (3), Autosomal recessive |
EIF2B5 | chr3 | 3q27 | Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive; Ovarioleukodystrophy, 603896 (3), Autosomal recessive |
EIF2S3 | chrX | Xp22.2-p22.1 | MEHMO syndrome, 300148 (3), X-linked recessive |
EIF4A3 | chr17 | 17q25.3 | Robin sequence with cleft mandible and limb anomalies, 268305 (3), Autosomal recessive |
ELAC2 | chr17 | 17p11 | Combined oxidative phosphorylation deficiency 17, 615440 (3), Autosomal recessive; {Prostate cancer, hereditary, 2, susceptibility to}, 614731 (3) |
ELMOD3 | chr2 | 2p11.3 | ?Deafness, autosomal recessive 88, 615429 (3), Autosomal recessive |
ELOVL4 | chr6 | 6q14 | Spinocerebellar ataxia 34, 133190 (3), Autosomal dominant; Stargardt disease 3, 600110 (3), Autosomal dominant; Ichthyosis, spastic quadriplegia, and mental retardation, 614457 (3), Autosomal recessive |
ELP1 | chr9 | 9q31 | Dysautonomia, familial, 223900 (3), Autosomal recessive |
ELP2 | chr18 | 18q12.2 | Mental retardation, autosomal recessive 58, 617270 (3), Autosomal recessive |
EMC1 | chr1 | 1p36.13 | Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 (3), Autosomal recessive |
EMD | chrX | Xq28 | Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3), X-linked recessive |
EMG1 | chr12 | 12p13 | Bowen-Conradi syndrome, 211180 (3), Autosomal recessive |
EML1 | chr14 | 14q32 | Band heterotopia, 600348 (3), Autosomal recessive |
EMP2 | chr16 | 16p13.2 | Nephrotic syndrome, type 10, 615861 (3), Autosomal recessive |
ENAM | chr4 | 4q21 | Amelogenesis imperfecta, type IC, 204650 (3), Autosomal recessive; Amelogenesis imperfecta, type IB, 104500 (3), Autosomal dominant |
ENO3 | chr17 | 17pter-p12 | ?Glycogen storage disease XIII, 612932 (3), Autosomal recessive |
ENPP1 | chr6 | 6q22-q23 | Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3), Autosomal recessive; Cole disease, 615522 (3), Autosomal dominant; {Obesity, susceptibility to}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant; Arterial calcification, generalized, of infancy, 1, 208000 (3), Autosomal recessive; {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant |
ENTPD1 | chr10 | 10q24 | Spastic paraplegia 64, autosomal recessive, 615683 (3), Autosomal recessive |
EOGT | chr3 | 3p14.1 | Adams-Oliver syndrome 4, 615297 (3), Autosomal recessive |
EPB41 | chr1 | 1p36.2-p34 | Elliptocytosis-1, 611804 (3), Autosomal recessive, Autosomal dominant |
EPB42 | chr15 | 15q15 | Spherocytosis, type 5, 612690 (3) |
EPCAM | chr2 | 2p21 | Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3); Diarrhea 5, with tufting enteropathy, congenital, 613217 (3), Autosomal recessive |
EPG5 | chr18 | 18q12.3-q21.1 | Vici syndrome, 242840 (3), Autosomal recessive |
EPHB2 | chr1 | 1p36.1-p35 | {Prostate cancer/brain cancer susceptibility, somatic}, 603688 (3); ?Bleeding disorder, platelet-type, 22, 618462 (3), Autosomal recessive |
EPHX1 | chr1 | 1q42.1 | ?Hypercholanemia, familial, 607748 (3), Autosomal recessive |
EPM2A | chr6 | 6q24 | Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3), Autosomal recessive |
EPO | chr7 | 7q21 | Erythrocytosis, familial, 5, 617907 (3), Autosomal dominant; {Microvascular complications of diabetes 2}, 612623 (3); ?Diamond-Blackfan anemia-like, 617911 (3), Autosomal recessive |
EPS8 | chr12 | 12p12.3 | ?Deafness, autosomal recessive 102, 615974 (3), Autosomal recessive |
EPX | chr17 | 17q23.1 | [Eosinophil peroxidase deficiency], 261500 (3), Autosomal recessive |
ERBB3 | chr12 | 12q13 | {?Erythroleukemia, familial, susceptibility to}, 133180 (3), Autosomal dominant; ?Lethal congenital contractural syndrome 2, 607598 (3), Autosomal recessive |
ERCC1 | chr19 | 19q13.2-q13.3 | Cerebrooculofacioskeletal syndrome 4, 610758 (3), Autosomal recessive |
ERCC2 | chr19 | 19q13.2-q13.3 | Trichothiodystrophy 1, photosensitive, 601675 (3), Autosomal recessive; ?Cerebrooculofacioskeletal syndrome 2, 610756 (3), Autosomal recessive; Xeroderma pigmentosum, group D, 278730 (3), Autosomal recessive |
ERCC3 | chr2 | 2q21 | Xeroderma pigmentosum, group B, 610651 (3), Autosomal recessive; Trichothiodystrophy 2, photosensitive, 616390 (3), Autosomal recessive |
ERCC4 | chr16 | 16p13.3-p13.13 | Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3), Autosomal recessive; Fanconi anemia, complementation group Q, 615272 (3), Autosomal recessive; XFE progeroid syndrome, 610965 (3), Autosomal recessive; Xeroderma pigmentosum, group F, 278760 (3), Autosomal recessive |
ERCC5 | chr13 | 13q33 | Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3), Autosomal recessive; Xeroderma pigmentosum, group G, 278780 (3), Autosomal recessive; Cerebrooculofacioskeletal syndrome 3, 616570 (3), Autosomal recessive |
ERCC6 | chr10 | 10q11 | {Macular degeneration, age-related, susceptibility to, 5}, 613761 (3); {Lung cancer, susceptibility to}, 211980 (3), Somatic mutation, Autosomal dominant; Cerebrooculofacioskeletal syndrome 1, 214150 (3), Autosomal recessive; Cockayne syndrome, type B, 133540 (3), Autosomal recessive; Premature ovarian failure 11, 616946 (3), Autosomal dominant; UV-sensitive syndrome 1, 600630 (3), Autosomal recessive; De Sanctis-Cacchione syndrome, 278800 (3), Autosomal recessive |
ERCC6L2 | chr9 | 9q22.32 | Bone marrow failure syndrome 2, 615715 (3), Autosomal recessive |
ERCC8 | chr5 | 5q12 | Cockayne syndrome, type A, 216400 (3), Autosomal recessive; UV-sensitive syndrome 2, 614621 (3), Autosomal recessive |
ERLIN1 | chr10 | 10q24.31 | Spastic paraplegia 62, 615681 (3), Autosomal recessive |
ERLIN2 | chr8 | 8p11.2 | Spastic paraplegia 18, autosomal recessive, 611225 (3), Autosomal recessive |
ESCO2 | chr8 | 8p21.1 | Roberts syndrome, 268300 (3), Autosomal recessive; SC phocomelia syndrome, 269000 (3), Autosomal recessive |
ESPN | chr1 | 1p36.3-p36.1 | ?Usher syndrome, type 1M, 618632 (3), Autosomal recessive; Deafness, autosomal recessive 36, 609006 (3), Autosomal recessive; Deafness, neurosensory, without vestibular involvement, autosomal dominant, 609006 (3), Autosomal recessive |
ESR1 | chr6 | 6q25.1 | {Myocardial infarction, susceptibility to}, 608446 (3); Estrogen resistance, 615363 (3), Autosomal recessive; Breast cancer, somatic, 114480 (3); {Migraine, susceptibility to}, 157300 (3), Autosomal dominant |
ESRRB | chr14 | 14q24.3 | Deafness, autosomal recessive 35, 608565 (3), Autosomal recessive |
ETFA | chr15 | 15q23-q25 | Glutaric acidemia IIA, 231680 (3), Autosomal recessive |
ETFB | chr19 | 19q13.3 | Glutaric acidemia IIB, 231680 (3), Autosomal recessive |
ETFDH | chr4 | 4q32-qter | Glutaric acidemia IIC, 231680 (3), Autosomal recessive |
ETHE1 | chr19 | 19q13.32 | Ethylmalonic encephalopathy, 602473 (3), Autosomal recessive |
EVC | chr4 | 4p16 | Ellis-van Creveld syndrome, 225500 (3), Autosomal recessive; ?Weyers acrofacial dysostosis, 193530 (3), Autosomal dominant |
EVC2 | chr4 | 4p16 | Weyers acrofacial dysostosis, 193530 (3), Autosomal dominant; Ellis-van Creveld syndrome, 225500 (3), Autosomal recessive |
EXOC6B | chr2 | 2p13.2 | Spondyloepimetaphyseal dysplasia with joint laxity, type 3, 618395 (3), Autosomal recessive |
EXOSC3 | chr9 | 9p13.2 | Pontocerebellar hypoplasia, type 1B, 614678 (3), Autosomal recessive |
EXOSC8 | chr13 | 13q13.1 | Pontocerebellar hypoplasia, type 1C, 616081 (3), Autosomal recessive |
EXPH5 | chr11 | 11q22.3 | Epidermolysis bullosa, nonspecific, autosomal recessive, 615028 (3), Autosomal recessive |
EXT2 | chr11 | 11p12-p11 | Seizures, scoliosis, and macrocephaly syndrome, 616682 (3), Autosomal recessive; Exostoses, multiple, type 2, 133701 (3), Autosomal dominant |
EXTL3 | chr8 | 8p21 | Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3), Autosomal recessive |
EYS | chr6 | 6q12 | Retinitis pigmentosa 25, 602772 (3), Autosomal recessive |
F10 | chr13 | 13q34 | Factor X deficiency, 227600 (3), Autosomal recessive |
F11 | chr4 | 4q35 | Factor XI deficiency, autosomal dominant, 612416 (3); Factor XI deficiency, autosomal recessive, 612416 (3) |
F12 | chr5 | 5q33-qter | Factor XII deficiency, 234000 (3), Autosomal recessive; Angioedema, hereditary, type III, 610618 (3), Autosomal dominant |
F13A1 | chr6 | 6p25-p24 | {Myocardial infarction, protection against}, 608446 (3); Factor XIIIA deficiency, 613225 (3), Autosomal recessive; {Venous thrombosis, protection against}, 188050 (3), Autosomal dominant |
F13B | chr1 | 1q31-q32.1 | Factor XIIIB deficiency, 613235 (3), Autosomal recessive |
F2 | chr11 | 11p11-q12 | {Pregnancy loss, recurrent, susceptibility to, 2}, 614390 (3), Autosomal dominant; Hypoprothrombinemia, 613679 (3), Autosomal recessive; Dysprothrombinemia, 613679 (3), Autosomal recessive; Thrombophilia due to thrombin defect, 188050 (3), Autosomal dominant; {Stroke, ischemic, susceptibility to}, 601367 (3), Multifactorial |
F5 | chr1 | 1q23 | {Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3), Autosomal dominant; Thrombophilia due to activated protein C resistance, 188055 (3), Autosomal dominant; {Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3), Autosomal dominant; Factor V deficiency, 227400 (3), Autosomal recessive; {Budd-Chiari syndrome}, 600880 (3), Autosomal recessive; {Stroke, ischemic, susceptibility to}, 601367 (3), Multifactorial |
F7 | chr13 | 13q34 | {Myocardial infarction, decreased susceptibility to}, 608446 (3); Factor VII deficiency, 227500 (3), Autosomal recessive |
F8 | chrX | Xq28 | Hemophilia A, 306700 (3), X-linked recessive |
F9 | chrX | Xq27.1-q27.2 | Thrombophilia, X-linked, due to factor IX defect, 300807 (3); {Deep venous thrombosis, protection against}, 300807 (3); Hemophilia B, 306900 (3), X-linked recessive; {Warfarin sensitivity}, 301052 (3), X-linked |
FA2H | chr16 | 16q23 | Spastic paraplegia 35, autosomal recessive, 612319 (3), Autosomal recessive |
FADD | chr11 | 11q13.3 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations, 613759 (3), Autosomal recessive |
FAH | chr15 | 15q23-q25 | Tyrosinemia, type I, 276700 (3), Autosomal recessive |
FAM126A | chr7 | 7p15.3 | Leukodystrophy, hypomyelinating, 5, 610532 (3), Autosomal recessive |
FAM161A | chr2 | 2p15 | Retinitis pigmentosa 28, 606068 (3) |
FAM20A | chr17 | 17q24.2 | Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3), Autosomal recessive |
FAM20C | chr7 | 7p22 | Raine syndrome, 259775 (3), Autosomal recessive |
FAN1 | chr15 | 15q13.2-q13.3 | Interstitial nephritis, karyomegalic, 614817 (3), Autosomal recessive |
FANCA | chr16 | 16q24.3 | Fanconi anemia, complementation group A, 227650 (3), Autosomal recessive |
FANCB | chrX | Xp22.31 | Fanconi anemia, complementation group B, 300514 (3), X-linked recessive |
FANCC | chr9 | 9q22.3 | Fanconi anemia, complementation group C, 227645 (3), Autosomal recessive |
FANCD2 | chr3 | 3p25.3 | Fanconi anemia, complementation group D2, 227646 (3), Autosomal recessive |
FANCE | chr6 | 6p22-p21 | Fanconi anemia, complementation group E, 600901 (3), Autosomal recessive |
FANCF | chr11 | 11p14.3 | Fanconi anemia, complementation group F, 603467 (3) |
FANCG | chr9 | 9p13.3 | Fanconi anemia, complementation group G, 614082 (3) |
FANCI | chr15 | 15q25-q26 | Fanconi anemia, complementation group I, 609053 (3), Autosomal recessive |
FANCL | chr2 | 2p16.1 | Fanconi anemia, complementation group L, 614083 (3), Autosomal recessive |
FANCM | chr14 | 14q21.3 | Spermatogenic failure 28, 618086 (3), Autosomal recessive; ?Premature ovarian failure 15, 618096 (3), Autosomal recessive |
FAR1 | chr11 | 11p15.2 | Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 (3), Autosomal recessive |
FARS2 | chr6 | 6p25.1 | Spastic paraplegia 77, autosomal recessive, 617046 (3), Autosomal recessive; Combined oxidative phosphorylation deficiency 14, 614946 (3), Autosomal recessive |
FAS | chr10 | 10q24.1 | Autoimmune lymphoproliferative syndrome, type IA, 601859 (3), Autosomal dominant; Squamous cell carcinoma, burn scar-related, somatic (3); {Autoimmune lymphoproliferative syndrome}, 601859 (3), Autosomal dominant |
FASLG | chr1 | 1q23 | Autoimmune lymphoproliferative syndrome, type IB, 601859 (3), Autosomal dominant; {Lung cancer, susceptibility to}, 211980 (3), Somatic mutation, Autosomal dominant |
FASTKD2 | chr2 | 2q33.3 | Combined oxidative phosphorylation deficiency 44, 618855 (3), Autosomal recessive |
FAT4 | chr4 | 4q28.1 | Van Maldergem syndrome 2, 615546 (3), Autosomal recessive; Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3), Autosomal recessive |
FBLN5 | chr14 | 14q32.1 | Macular degeneration, age-related, 3, 608895 (3), Autosomal dominant; ?Cutis laxa, autosomal dominant 2, 614434 (3), Autosomal dominant; Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3), Autosomal dominant; Cutis laxa, autosomal recessive, type IA, 219100 (3), Autosomal recessive |
FBP1 | chr9 | 9q22.2-q22.3 | Fructose-1,6-bisphosphatase deficiency, 229700 (3), Autosomal recessive |
FBXL4 | chr6 | 6q16.1-q16.3 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (3), Autosomal recessive |
FBXO31 | chr16 | 16q24.3 | ?Mental retardation, autosomal recessive 45, 615979 (3), Autosomal recessive |
FBXO7 | chr22 | 22q12-q13 | Parkinson disease 15, autosomal recessive, 260300 (3), Autosomal recessive |
FCGR2A | chr1 | 1q21-q23 | {Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3), Autosomal recessive; {Lupus nephritis, susceptibility to}, 152700 (3), Autosomal dominant; {Malaria, severe, susceptibility to}, 611162 (3) |
FCGR3A | chr1 | 1q23 | Immunodeficiency 20, 615707 (3), Autosomal recessive |
FCN3 | chr1 | 1p36.11 | Immunodeficiency due to ficolin 3 deficiency, 613860 (3), Autosomal recessive |
FDFT1 | chr8 | 8p23.1-p22 | Squalene synthase deficiency, 618156 (3), Autosomal recessive |
FECH | chr18 | 18q21.3 | Protoporphyria, erythropoietic, 1, 177000 (3), Autosomal recessive |
FERMT1 | chr20 | 20p13 | Kindler syndrome, 173650 (3), Autosomal recessive |
FERMT3 | chr11 | 11q12 | Leukocyte adhesion deficiency, type III, 612840 (3), Autosomal recessive |
FEZF1 | chr7 | 7q31.32 | Hypogonadotropic hypogonadism 22, with or without anosmia, 616030 (3), Autosomal recessive |
FGA | chr4 | 4q28 | Dysfibrinogenemia, congenital, 616004 (3); Amyloidosis, familial visceral, 105200 (3), Autosomal dominant; Hypodysfibrinogenemia, congenital, 616004 (3); Afibrinogenemia, congenital, 202400 (3), Autosomal recessive |
FGB | chr4 | 4q28 | Dysfibrinogenemia, congenital, 616004 (3); Afibrinogenemia, congenital, 202400 (3), Autosomal recessive; Hypofibrinogenemia, congenital, 202400 (3), Autosomal recessive |
FGD1 | chrX | Xp11.21 | Mental retardation, X-linked syndromic 16, 305400 (3), X-linked recessive; Aarskog-Scott syndrome, 305400 (3), X-linked recessive |
FGD4 | chr12 | 12p11.2 | Charcot-Marie-Tooth disease, type 4H, 609311 (3), Autosomal recessive |
FGF16 | chrX | Xq21.1 | Metacarpal 4-5 fusion, 309630 (3), X-linked recessive |
FGF20 | chr8 | 8p22-p21.3 | ?Renal hypodysplasia/aplasia 2, 615721 (3), Autosomal recessive |
FGF23 | chr12 | 12p13.3 | Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993 (3), Autosomal recessive; Hypophosphatemic rickets, autosomal dominant, 193100 (3), Autosomal dominant |
FGF3 | chr11 | 11q13 | Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 (3), Autosomal recessive |
FGF5 | chr4 | 4q21 | Trichomegaly, 190330 (3), Autosomal recessive |
FGFR3 | chr4 | 4p16.3 | Muenke syndrome, 602849 (3), Autosomal dominant; Nevus, epidermal, somatic, 162900 (3); Thanatophoric dysplasia, type II, 187601 (3), Autosomal dominant; Bladder cancer, somatic, 109800 (3); CATSHL syndrome, 610474 (3), Autosomal recessive, Autosomal dominant; Crouzon syndrome with acanthosis nigricans, 612247 (3), Autosomal dominant; Hypochondroplasia, 146000 (3), Autosomal dominant; LADD syndrome, 149730 (3), Autosomal dominant; Achondroplasia, 100800 (3), Autosomal dominant; Thanatophoric dysplasia, type I, 187600 (3), Autosomal dominant; Colorectal cancer, somatic, 114500 (3); Spermatocytic seminoma, somatic, 273300 (3); Cervical cancer, somatic, 603956 (3); SADDAN, 616482 (3), Autosomal dominant |
FGG | chr4 | 4q28 | Hypofibrinogenemia, congenital, 202400 (3), Autosomal recessive; Hypodysfibrinogenemia, 616004 (3); Dysfibrinogenemia, congenital, 616004 (3); Afibrinogenemia, congenital, 202400 (3), Autosomal recessive |
FH | chr1 | 1q42.1 | Fumarase deficiency, 606812 (3), Autosomal recessive; Leiomyomatosis and renal cell cancer, 150800 (3), Autosomal dominant |
FIG4 | chr6 | 6q21 | Yunis-Varon syndrome, 216340 (3), Autosomal recessive; ?Polymicrogyria, bilateral temporooccipital, 612691 (3), Autosomal recessive; Charcot-Marie-Tooth disease, type 4J, 611228 (3), Autosomal recessive; Amyotrophic lateral sclerosis 11, 612577 (3), Autosomal dominant |
FKBP10 | chr17 | 17q21.2 | Bruck syndrome 1, 259450 (3), Autosomal recessive; Osteogenesis imperfecta, type XI, 610968 (3), Autosomal recessive |
FKBP14 | chr7 | 7p15.1 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557 (3), Autosomal recessive |
FKRP | chr19 | 19q13.3 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3), Autosomal recessive |
FKTN | chr9 | 9q31 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 (3), Autosomal recessive; Cardiomyopathy, dilated, 1X, 611615 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3), Autosomal recessive |
FLG | chr1 | 1q21 | {Dermatitis, atopic, susceptibility to, 2}, 605803 (3); Ichthyosis vulgaris, 146700 (3), Autosomal recessive, Autosomal dominant |
FLI1 | chr11 | 11q24 | Bleeding disorder, platelet-type, 21, 617443 (3), Autosomal recessive, Autosomal dominant |
FLNA | chrX | Xq28 | Otopalatodigital syndrome, type I, 311300 (3), X-linked dominant; Congenital short bowel syndrome, 300048 (3), X-linked recessive; Otopalatodigital syndrome, type II, 304120 (3), X-linked dominant; Intestinal pseudoobstruction, neuronal, 300048 (3), X-linked recessive; Melnick-Needles syndrome, 309350 (3), X-linked dominant; Cardiac valvular dysplasia, X-linked, 314400 (3), X-linked; ?FG syndrome 2, 300321 (3), X-linked; Heterotopia, periventricular, 1, 300049 (3), X-linked dominant; Terminal osseous dysplasia, 300244 (3), X-linked dominant; Frontometaphyseal dysplasia 1, 305620 (3), X-linked recessive |
FLNB | chr3 | 3p14.3 | Larsen syndrome, 150250 (3), Autosomal dominant; Atelosteogenesis, type I, 108720 (3), Autosomal dominant; Boomerang dysplasia, 112310 (3), Autosomal dominant; Spondylocarpotarsal synostosis syndrome, 272460 (3), Autosomal recessive; Atelosteogenesis, type III, 108721 (3), Autosomal dominant |
FLVCR1 | chr1 | 1q31.3 | Ataxia, posterior column, with retinitis pigmentosa, 609033 (3), Autosomal recessive |
FLVCR2 | chr14 | 14q24.3 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 (3), Autosomal recessive |
FMN2 | chr1 | 1q43 | Mental retardation, autosomal recessive 47, 616193 (3), Autosomal recessive |
FMO3 | chr1 | 1q23-q25 | Trimethylaminuria, 602079 (3), Autosomal recessive |
FMR1 | chrX | Xq27.3 | Premature ovarian failure 1, 311360 (3), X-linked; Fragile X tremor/ataxia syndrome, 300623 (3), X-linked dominant; Fragile X syndrome, 300624 (3), X-linked dominant |
FOLR1 | chr11 | 11q13.3-q13.5 | Neurodegeneration due to cerebral folate transport deficiency, 613068 (3), Autosomal recessive |
FOXE1 | chr9 | 9q22 | Bamforth-Lazarus syndrome, 241850 (3), Autosomal recessive; {Thyroid cancer, nonmedullary, 4}, 616534 (3), Autosomal dominant |
FOXE3 | chr1 | 1p32 | Cataract 34, multiple types, 612968 (3); Anterior segment dysgenesis 2, multiple subtypes, 610256 (3), Autosomal recessive; {Aortic aneurysm, familial thoracic 11, susceptibility to}, 617349 (3), Autosomal dominant |
FOXG1 | chr14 | 14q13 | Rett syndrome, congenital variant, 613454 (3), Autosomal dominant |
FOXI1 | chr5 | 5q34 | Enlarged vestibular aqueduct, 600791 (3), Autosomal recessive |
FOXL2 | chr3 | 3q23 | Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100 (3), Autosomal recessive, Autosomal dominant; Premature ovarian failure 3, 608996 (3), Autosomal dominant; Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 (3), Autosomal recessive, Autosomal dominant |
FOXN1 | chr17 | 17q11-q12 | T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, 618806 (3); T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3), Autosomal recessive |
FOXP3 | chrX | Xp11.23-q13.3 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3), X-linked recessive |
FOXRED1 | chr11 | 11q24.2 | Mitochondrial complex I deficiency, nuclear type 19, 618241 (3), Autosomal recessive |
FRAS1 | chr4 | 4q21 | Fraser syndrome 1, 219000 (3), Autosomal recessive |
FREM1 | chr9 | 9p22.3 | Manitoba oculotrichoanal syndrome, 248450 (3), Autosomal recessive; Trigonocephaly 2, 614485 (3), Autosomal dominant; Bifid nose with or without anorectal and renal anomalies, 608980 (3) |
FREM2 | chr13 | 13q13.3 | Fraser syndrome 2, 617666 (3), Autosomal recessive; Cryptophthalmos, unilateral or bilateral, isolated, 123570 (3), Autosomal recessive |
FRMPD4 | chrX | Xp22.2 | Mental retardation, X-linked 104, 300983 (3), X-linked |
FRRS1L | chr9 | 9q31.3 | Epileptic encephalopathy, early infantile, 37, 616981 (3), Autosomal recessive |
FSHB | chr11 | 11p13 | Hypogonadotropic hypogonadism 24 without anosmia, 229070 (3), Autosomal recessive |
FSHR | chr2 | 2p21-p16 | Ovarian hyperstimulation syndrome, 608115 (3), Autosomal dominant; Ovarian dysgenesis 1, 233300 (3), Autosomal recessive; Ovarian response to FSH stimulation, 276400 (3), Autosomal recessive |
FTCD | chr21 | 21q22.3 | Glutamate formiminotransferase deficiency, 229100 (3), Autosomal recessive |
FTL | chr19 | 19q13.3-q13.4 | Hyperferritinemia- cataract syndrome, 600886 (3), Autosomal dominant; Neurodegeneration with brain iron accumulation 3, 606159 (3), Autosomal dominant; L-ferritin deficiency, dominant and recessive, 615604 (3), Autosomal recessive, Autosomal dominant |
FTO | chr16 | 16q12.2 | Growth retardation, developmental delay, facial dysmorphism, 612938 (3), Autosomal recessive; {Obesity, susceptibility to, BMIQ14}, 612460 (3), Autosomal recessive |
FTSJ1 | chrX | Xp11.23 | Mental retardation, X-linked 9/44, 309549 (3), X-linked recessive |
FUCA1 | chr1 | 1p34 | Fucosidosis, 230000 (3), Autosomal recessive |
FUT1 | chr19 | 19q13.3 | [Bombay phenotype], 616754 (3), Autosomal recessive |
FUT2 | chr19 | 19q13.3 | {Vitamin B12 plasma level QTL1}, 612542 (3); [Bombay phenotype, digenic], 616754 (3), Autosomal recessive; {Norwalk virus infection, resistance to} (3) |
FUT8 | chr14 | 14q23 | Congenital disorder of glycosylation with defective fucosylation 1, 618005 (3), Autosomal recessive |
FXN | chr9 | 9q13 | Friedreich ataxia with retained reflexes, 229300 (3), Autosomal recessive; Friedreich ataxia, 229300 (3), Autosomal recessive |
FYCO1 | chr3 | 3p21.3 | Cataract 18, autosomal recessive, 610019 (3), Autosomal recessive |
FZD6 | chr8 | 8q22.3-q23.1 | Nail disorder, nonsyndromic congenital, 1, 161050 (3), Autosomal recessive |
G6PC | chr17 | 17q21 | Glycogen storage disease Ia, 232200 (3), Autosomal recessive |
G6PC3 | chr17 | 17q21 | Dursun syndrome, 612541 (3), Autosomal recessive; Neutropenia, severe congenital 4, autosomal recessive, 612541 (3), Autosomal recessive |
G6PD | chrX | Xq28 | Hemolytic anemia, G6PD deficient (favism), 300908 (3), X-linked dominant; {Resistance to malaria due to G6PD deficiency}, 611162 (3) |
GAA | chr17 | 17q25.2-q25.3 | Glycogen storage disease II, 232300 (3), Autosomal recessive |
GAD1 | chr2 | 2q31 | ?Cerebral palsy, spastic quadriplegic, 1, 603513 (3), Autosomal recessive |
GALC | chr14 | 14q31 | Krabbe disease, 245200 (3), Autosomal recessive |
GALE | chr1 | 1p36-p35 | Galactose epimerase deficiency, 230350 (3), Autosomal recessive |
GALK1 | chr17 | 17q24 | Galactokinase deficiency with cataracts, 230200 (3), Autosomal recessive |
GALNS | chr16 | 16q24.3 | Mucopolysaccharidosis IVA, 253000 (3), Autosomal recessive |
GALNT2 | chr1 | 1q41-q42 | Congenital disorder of glycosylation, type IIt, 618885 (3), Autosomal recessive |
GALNT3 | chr2 | 2q24-q31 | Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900 (3), Autosomal recessive |
GALT | chr9 | 9p13 | Galactosemia, 230400 (3), Autosomal recessive |
GAMT | chr19 | 19p13.3 | Cerebral creatine deficiency syndrome 2, 612736 (3), Autosomal recessive |
GAN | chr16 | 16q24.1 | Giant axonal neuropathy-1, 256850 (3), Autosomal recessive |
GAS2L2 | chr17 | 17q12 | ?Ciliary dyskinesia, primary, 41, 618449 (3), Autosomal recessive |
GATA1 | chrX | Xp11.23 | Leukemia, megakaryoblastic, with or without Down syndrome, somatic, 190685 (3); Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 (3), X-linked recessive; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 (3), X-linked recessive; Thrombocytopenia with beta-thalassemia, X-linked, 314050 (3), X-linked recessive |
GATA5 | chr20 | 20q13.2-q13.3 | Congenital heart defects, multiple types, 5, 617912 (3), Autosomal recessive, Autosomal dominant |
GATAD1 | chr7 | 7q21.2 | ?Cardiomyopathy, dilated, 2B, 614672 (3), Autosomal recessive |
GATM | chr15 | 15q21.1 | Cerebral creatine deficiency syndrome 3, 612718 (3), Autosomal recessive; Fanconi renotubular syndrome 1, 134600 (3), Autosomal dominant |
GBA | chr1 | 1q21 | Gaucher disease, type III, 231000 (3), Autosomal recessive; {Parkinson disease, late-onset, susceptibility to}, 168600 (3), Multifactorial, Autosomal dominant; Gaucher disease, type IIIC, 231005 (3), Autosomal recessive; Gaucher disease, type I, 230800 (3), Autosomal recessive; Gaucher disease, perinatal lethal, 608013 (3), Autosomal recessive; Gaucher disease, type II, 230900 (3), Autosomal recessive; {Lewy body dementia, susceptibility to}, 127750 (3), Autosomal dominant |
GBA2 | chr9 | 9p13.3 | Spastic paraplegia 46, autosomal recessive, 614409 (3), Autosomal recessive |
GBE1 | chr3 | 3p12 | Polyglucosan body disease, adult form, 263570 (3), Autosomal recessive; Glycogen storage disease IV, 232500 (3), Autosomal recessive |
GCDH | chr19 | 19p13.2 | Glutaricaciduria, type I, 231670 (3), Autosomal recessive |
GCH1 | chr14 | 14q22.1-q22.2 | Hyperphenylalaninemia, BH4-deficient, B, 233910 (3), Autosomal recessive; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3), Autosomal recessive, Autosomal dominant |
GCK | chr7 | 7p15-p13 | Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3), Autosomal dominant; MODY, type II, 125851 (3), Autosomal dominant; Diabetes mellitus, permanent neonatal 1, 606176 (3), Autosomal recessive; Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3), Autosomal dominant |
GCLC | chr6 | 6p12 | Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3), Autosomal recessive; {Myocardial infarction, susceptibility to}, 608446 (3) |
GCNT2 | chr6 | 6p24-p23 | Adult i phenotype without cataract, 110800 (3), Autosomal dominant; Cataract 13 with adult i phenotype, 116700 (3), Autosomal recessive; [Blood group, Ii], 110800 (3), Autosomal dominant |
GCSH | chr16 | 16q24 | ?Glycine encephalopathy, 605899 (3), Autosomal recessive |
GDAP1 | chr8 | 8q21.11 | Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3), Autosomal recessive; Charcot-Marie-Tooth disease, type 4A, 214400 (3), Autosomal recessive; Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3), Autosomal recessive, Autosomal dominant; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3), Autosomal recessive |
GDF1 | chr19 | 19p12 | Right atrial isomerism (Ivemark), 208530 (3), Autosomal recessive; Congenital heart defects, multiple types, 6, 613854 (3), Autosomal dominant |
GDF5 | chr20 | 20q11.2 | ?Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3), Autosomal recessive; Symphalangism, proximal, 1B, 615298 (3), Autosomal dominant; Brachydactyly, type A1, C, 615072 (3), Autosomal recessive, Autosomal dominant; Chondrodysplasia, Grebe type, 200700 (3), Autosomal recessive; Brachydactyly, type A2, 112600 (3), Autosomal dominant; Du Pan syndrome, 228900 (3), Autosomal recessive; {Osteoarthritis-5}, 612400 (3); Brachydactyly, type C, 113100 (3), Autosomal dominant; Multiple synostoses syndrome 2, 610017 (3), Autosomal dominant |
GDF6 | chr8 | 8q22.1 | Leber congenital amaurosis 17, 615360 (3), Autosomal recessive; Klippel-Feil syndrome 1, autosomal dominant, 118100 (3), Autosomal dominant; Multiple synostoses syndrome 4, 617898 (3), Autosomal dominant; Microphthalmia with coloboma 6, digenic, 613703 (3), Autosomal dominant; Microphthalmia, isolated 4, 613094 (3) |
GDF9 | chr5 | 5q31.1 | ?Premature ovarian failure 14, 618014 (3), Autosomal recessive |
GDI1 | chrX | Xq28 | Mental retardation, X-linked 41, 300849 (3), X-linked dominant |
GEMIN4 | chr17 | 17p13.3 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3), Autosomal recessive |
GFI1B | chr9 | 9q34.13 | Bleeding disorder, platelet-type, 17, 187900 (3), Autosomal recessive, Autosomal dominant |
GFM1 | chr3 | 3q25.32 | Combined oxidative phosphorylation deficiency 1, 609060 (3), Autosomal recessive |
GFM2 | chr5 | 5q13 | Combined oxidative phosphorylation deficiency 39, 618397 (3), Autosomal recessive |
GFPT1 | chr2 | 2p13 | Myasthenia, congenital, 12, with tubular aggregates, 610542 (3), Autosomal recessive |
GGCX | chr2 | 2p12 | Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 (3), Autosomal recessive; Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3) |
GH1 | chr17 | 17q22-q24 | Kowarski syndrome, 262650 (3), Autosomal recessive; Growth hormone deficiency, isolated, type IA, 262400 (3), Autosomal recessive; Growth hormone deficiency, isolated, type IB, 612781 (3); Growth hormone deficiency, isolated, type II, 173100 (3), Autosomal dominant |
GHR | chr5 | 5p13-p12 | {Hypercholesterolemia, familial, modifier of}, 143890 (3), Autosomal dominant; Increased responsiveness to growth hormone, 604271 (3), Autosomal dominant; Laron dwarfism, 262500 (3), Autosomal recessive; Growth hormone insensitivity, partial, 604271 (3), Autosomal dominant |
GHRHR | chr7 | 7p15-p14 | Growth hormone deficiency, isolated, type IV, 618157 (3), Autosomal recessive |
GHRL | chr3 | 3p26-p25 | {Obesity, susceptibility to}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant |
GHSR | chr3 | 3q26.3 | Growth hormone deficiency, isolated partial, 615925 (3), Autosomal recessive, Autosomal dominant |
GIPC3 | chr19 | 19p13.3 | Deafness, autosomal recessive 15, 601869 (3), Autosomal recessive |
GJA1 | chr6 | 5q22.31 | Erythrokeratodermia variabilis et progressiva 3, 617525 (3), Autosomal dominant; Craniometaphyseal dysplasia, autosomal recessive, 218400 (3), Autosomal recessive; Atrioventricular septal defect 3, 600309 (3), Autosomal dominant; Oculodentodigital dysplasia, 164200 (3), Autosomal dominant; Syndactyly, type III, 186100 (3), Autosomal dominant; Oculodentodigital dysplasia, autosomal recessive, 257850 (3), Autosomal recessive; Hypoplastic left heart syndrome 1, 241550 (3), Autosomal recessive; Palmoplantar keratoderma with congenital alopecia, 104100 (3), Autosomal dominant |
GJB2 | chr13 | 13q11-q12 | Deafness, autosomal dominant 3A, 601544 (3), Autosomal dominant; Deafness, autosomal recessive 1A, 220290 (3), Digenic dominant, Autosomal recessive; Bart-Pumphrey syndrome, 149200 (3), Autosomal dominant; Vohwinkel syndrome, 124500 (3), Autosomal dominant; Keratoderma, palmoplantar, with deafness, 148350 (3), Autosomal dominant; Keratitis-ichthyosis-deafness syndrome, 148210 (3), Autosomal dominant; Hystrix-like ichthyosis with deafness, 602540 (3), Autosomal dominant |
GJB3 | chr1 | 1p35.1 | Deafness, autosomal dominant 2B, 612644 (3), Autosomal dominant; Deafness, autosomal recessive (3); Deafness, autosomal dominant, with peripheral neuropathy (3); Deafness, digenic, GJB2/GJB3, 220290 (3), Digenic dominant, Autosomal recessive; Erythrokeratodermia variabilis et progressiva 1, 133200 (3), Autosomal recessive, Autosomal dominant |
GJB6 | chr13 | 13q12 | Deafness, autosomal dominant 3B, 612643 (3), Autosomal dominant; Deafness, autosomal recessive 1B, 612645 (3), Autosomal recessive; Deafness, digenic GJB2/GJB6, 220290 (3), Digenic dominant, Autosomal recessive; Ectodermal dysplasia 2, Clouston type, 129500 (3), Autosomal dominant |
GJC2 | chr1 | 1q42.13 | Spastic paraplegia 44, autosomal recessive, 613206 (3), Autosomal recessive; Lymphatic malformation 3, 613480 (3), Autosomal dominant; Leukodystrophy, hypomyelinating, 2, 608804 (3), Autosomal recessive |
GK | chrX | Xp21.3-p21.2 | Glycerol kinase deficiency, 307030 (3), X-linked recessive |
GLA | chrX | Xq22 | Fabry disease, 301500 (3), X-linked; Fabry disease, cardiac variant, 301500 (3), X-linked |
GLB1 | chr3 | 3p21.33 | GM1-gangliosidosis, type III, 230650 (3), Autosomal recessive; GM1-gangliosidosis, type I, 230500 (3), Autosomal recessive; Mucopolysaccharidosis type IVB (Morquio), 253010 (3), Autosomal recessive; GM1-gangliosidosis, type II, 230600 (3), Autosomal recessive |
GLDC | chr9 | 9p22 | Glycine encephalopathy, 605899 (3), Autosomal recessive |
GLE1 | chr9 | 9q34 | Congenital arthrogryposis with anterior horn cell disease, 611890 (3), Autosomal recessive; Lethal congenital contracture syndrome 1, 253310 (3), Autosomal recessive |
GLI1 | chr12 | 12q13.2-q13.3 | Polydactyly, postaxial, type A8, 618123 (3), Autosomal recessive; Polydactyly, preaxial I, 174400 (3), Autosomal recessive |
GLIS2 | chr16 | 16p13.3 | Nephronophthisis 7, 611498 (3) |
GLIS3 | chr9 | 9p24.3-p23 | Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3), Autosomal recessive |
GLRA1 | chr5 | 5q32 | Hyperekplexia 1, 149400 (3), Autosomal recessive, Autosomal dominant |
GLRB | chr4 | 4q31.3 | Hyperekplexia 2, 614619 (3), Autosomal recessive |
GLRX5 | chr14 | 14q32 | Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 (3), Autosomal recessive; Spasticity, childhood-onset, with hyperglycinemia, 616859 (3), Autosomal recessive |
GLS | chr2 | 2q32-q34 | ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, 618339 (3), Autosomal dominant; Global developmental delay, progressive ataxia, and elevated glutamine, 618412 (3), Autosomal recessive; Epileptic encephalopathy, early infantile, 71, 618328 (3), Autosomal recessive |
GLUL | chr1 | 1q31 | Glutamine deficiency, congenital, 610015 (3), Autosomal recessive |
GLYCTK | chr3 | 3p21 | D-glyceric aciduria, 220120 (3), Autosomal recessive |
GM2A | chr5 | 5q31.3-q33.1 | GM2-gangliosidosis, AB variant, 272750 (3), Autosomal recessive |
GMPPA | chr2 | 2q35 | Alacrima, achalasia, and mental retardation syndrome, 615510 (3), Autosomal recessive |
GMPPB | chr3 | 3p21.31 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3), Autosomal recessive |
GNAT1 | chr3 | 3p21 | Night blindness, congenital stationary, type 1G, 616389 (3), Autosomal recessive; Night blindness, congenital stationary, autosomal dominant 3, 610444 (3), Autosomal dominant |
GNB3 | chr12 | 12p13 | {Hypertension, essential, susceptibility to}, 145500 (3), Multifactorial; Night blindness, congenital stationary, type 1H, 617024 (3), Autosomal recessive |
GNB5 | chr15 | 15q21.2 | Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 (3), Autosomal recessive |
GNE | chr9 | 9p13.3 | Sialuria, 269921 (3), Autosomal dominant; Nonaka myopathy, 605820 (3), Autosomal recessive |
GNMT | chr6 | 6p12 | Glycine N-methyltransferase deficiency, 606664 (3), Autosomal recessive |
GNPAT | chr1 | 1q42 | Rhizomelic chondrodysplasia punctata, type 2, 222765 (3), Autosomal recessive |
GNPTAB | chr12 | 12q23.3 | Mucolipidosis II alpha/beta, 252500 (3), Autosomal recessive; Mucolipidosis III alpha/beta, 252600 (3), Autosomal recessive |
GNPTG | chr16 | 16p | Mucolipidosis III gamma, 252605 (3), Autosomal recessive |
GNRH1 | chr8 | 8p21-p11.2 | ?Hypogonadotropic hypogonadism 12 with or without anosmia, 614841 (3), Autosomal recessive |
GNRHR | chr4 | 4q21.2 | Hypogonadotropic hypogonadism 7 without anosmia, 146110 (3), Autosomal recessive |
GNS | chr12 | 12q14 | Mucopolysaccharidosis type IIID, 252940 (3), Autosomal recessive |
GORAB | chr1 | 1q24.2 | Geroderma osteodysplasticum, 231070 (3), Autosomal recessive |
GOSR2 | chr17 | 17q21 | Epilepsy, progressive myoclonic 6, 614018 (3), Autosomal recessive |
GP1BA | chr17 | 17pter-p12 | Bernard-Soulier syndrome, type A1 (recessive), 231200 (3), Autosomal recessive; {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660 (3), Autosomal recessive; von Willebrand disease, platelet-type, 177820 (3), Autosomal dominant; Bernard-Soulier syndrome, type A2 (dominant), 153670 (3), Autosomal dominant |
GP1BB | chr22 | 22q11.2 | Giant platelet disorder, isolated, 231200 (3), Autosomal recessive; Bernard-Soulier syndrome, type B, 231200 (3), Autosomal recessive |
GP6 | chr19 | 19q13.4 | Bleeding disorder, platelet-type, 11, 614201 (3), Autosomal recessive |
GP9 | chr3 | 3q21 | Bernard-Soulier syndrome, type C, 231200 (3), Autosomal recessive |
GPC3 | chrX | Xq26 | Simpson-Golabi-Behmel syndrome, type 1, 312870 (3), X-linked recessive; Wilms tumor, somatic, 194070 (3) |
GPC4 | chrX | Xq26 | Keipert syndrome, 301026 (3), X-linked recessive |
GPC6 | chr13 | 13q32 | Omodysplasia 1, 258315 (3), Autosomal recessive |
GPD1 | chr12 | 12q12-q13 | Hypertriglyceridemia, transient infantile, 614480 (3), Autosomal recessive |
GPHN | chr14 | 14q24 | Molybdenum cofactor deficiency C, 615501 (3), Autosomal recessive |
GPI | chr19 | 19q13.1 | Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 (3), Autosomal recessive |
GPIHBP1 | chr8 | 8q24.3 | Hyperlipoproteinemia, type 1D, 615947 (3), Autosomal recessive |
GPNMB | chr7 | 7p15.3 | Amyloidosis, primary localized cutaneous, 3, 617920 (3), Autosomal recessive |
GPR143 | chrX | Xp22.3 | Ocular albinism, type I, Nettleship-Falls type, 300500 (3), X-linked; Nystagmus 6, congenital, X-linked, 300814 (3), X-linked recessive |
GPR179 | chr17 | 17q12 | Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3), Autosomal recessive |
GPR68 | chr14 | 14q31 | Amelogenesis imperfecta, hypomaturation type, IIA6, 617217 (3), Autosomal recessive |
GPSM2 | chr1 | 1p13.1 | Chudley-McCullough syndrome, 604213 (3), Autosomal recessive |
GPT2 | chr16 | 16q12.1 | Mental retardation, autosomal recessive 49, 616281 (3), Autosomal recessive |
GPX1 | chr3 | 3p21.3 | Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1), Autosomal recessive |
GPX4 | chr19 | 19p13.3 | Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3), Autosomal recessive |
GRHL2 | chr8 | 8q22 | Deafness, autosomal dominant 28, 608641 (3), Autosomal dominant; Corneal dystrophy, posterior polymorphous, 4, 618031 (3), Autosomal dominant; Ectodermal dysplasia/short stature syndrome, 616029 (3), Autosomal recessive |
GRHPR | chr9 | 9cen | Hyperoxaluria, primary, type II, 260000 (3), Autosomal recessive |
GRIA3 | chrX | Xq25-q26 | Mental retardation, X-linked 94, 300699 (3), X-linked recessive |
GRID2 | chr4 | 4q22 | Spinocerebellar ataxia, autosomal recessive 18, 616204 (3), Autosomal recessive |
GRIK2 | chr6 | 6q21 | Mental retardation, autosomal recessive, 6, 611092 (3), Autosomal recessive |
GRIN1 | chr9 | 9q34.3 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820 (3), Autosomal recessive; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 (3), Autosomal dominant |
GRIP1 | chr12 | 12q14.3 | Fraser syndrome 3, 617667 (3), Autosomal recessive |
GRM1 | chr6 | 6q24 | Spinocerebellar ataxia 44, 617691 (3), Autosomal dominant; Spinocerebellar ataxia, autosomal recessive 13, 614831 (3), Autosomal recessive |
GRM6 | chr5 | 5q35 | Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3), Autosomal recessive |
GRM7 | chr3 | 3p26.1 | Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities, 618922 (3), Autosomal recessive |
GRN | chr17 | 17q21.32 | Ceroid lipofuscinosis, neuronal, 11, 614706 (3), Autosomal recessive; Aphasia, primary progressive, 607485 (3), Autosomal dominant; Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 (3), Autosomal dominant |
GRXCR1 | chr4 | 4p13 | Deafness, autosomal recessive 25, 613285 (3), Autosomal recessive |
GRXCR2 | chr5 | 5q32 | ?Deafness, autosomal recessive 101, 615837 (3), Autosomal recessive |
GSC | chr14 | 14q32.1 | Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 602471 (3), Autosomal recessive |
GSR | chr8 | 8p21.1 | Hemolytic anemia due to glutathione reductase deficiency, 618660 (3), Autosomal recessive |
GSS | chr20 | 20q11.2 | Glutathione synthetase deficiency, 266130 (3), Autosomal recessive; Hemolytic anemia due to glutathione synthetase deficiency, 231900 (3), Autosomal recessive |
GSTZ1 | chr14 | 14q24.3 | [Maleylacetoacetate isomerase deficiency], 617596 (3), Autosomal recessive |
GTF2H5 | chr6 | 6q25.3 | Trichothiodystrophy 3, photosensitive, 616395 (3) |
GTPBP3 | chr19 | 19p13.11 | Combined oxidative phosphorylation deficiency 23, 616198 (3), Autosomal recessive |
GUCY2C | chr12 | 12p12 | Diarrhea 6, 614616 (3), Autosomal dominant; Meconium ileus, 614665 (3), Autosomal recessive |
GUCY2D | chr17 | 17p13.1 | Cone-rod dystrophy 6, 601777 (3), Autosomal recessive, Autosomal dominant; Leber congenital amaurosis 1, 204000 (3), Autosomal recessive; Night blindness, congenital stationary, type 1I, 618555 (3), Autosomal recessive; ?Choroidal dystrophy, central areolar 1, 215500 (3), Autosomal dominant |
GUSB | chr7 | 7q21.11 | Mucopolysaccharidosis VII, 253220 (3), Autosomal recessive |
GYG1 | chr3 | 3q24-q25.1 | ?Glycogen storage disease XV, 613507 (3), Autosomal recessive; Polyglucosan body myopathy 2, 616199 (3), Autosomal recessive |
GYS1 | chr19 | 19q13.3 | Glycogen storage disease 0, muscle, 611556 (3), Autosomal recessive |
GYS2 | chr12 | 12p12.2 | Glycogen storage disease 0, liver, 240600 (3), Autosomal recessive |
H6PD | chr1 | 1p36 | Cortisone reductase deficiency 1, 604931 (3), Autosomal recessive |
HACE1 | chr6 | 6q21 | Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3), Autosomal recessive |
HADH | chr4 | 4q22-q26 | 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3), Autosomal recessive; Hyperinsulinemic hypoglycemia, familial, 4, 609975 (3), Autosomal recessive |
HADHA | chr2 | 2p23 | LCHAD deficiency, 609016 (3), Autosomal recessive; HELLP syndrome, maternal, of pregnancy, 609016 (3), Autosomal recessive; Mitochondrial trifunctional protein deficiency, 609015 (3), Autosomal recessive; Fatty liver, acute, of pregnancy, 609016 (3), Autosomal recessive |
HADHB | chr2 | 2p23 | Trifunctional protein deficiency, 609015 (3), Autosomal recessive |
HAL | chr12 | 12q22-q23 | [Histidinemia], 235800 (3), Autosomal recessive, Autosomal dominant |
HAMP | chr19 | 19q13 | Hemochromatosis, type 2B, 613313 (3), Autosomal recessive |
HARS | chr5 | 5q31.3 | ?Perrault syndrome 2, 614926 (3), Autosomal recessive |
HARS2 | chr5 | 5q31.3 | ?Perrault syndrome 2, 614926 (3), Autosomal recessive |
HAX1 | chr1 | 1q21.3 | Neutropenia, severe congenital 3, autosomal recessive, 610738 (3), Autosomal recessive |
HBA1 | chr16 | 16pter-p13.3 | Hemoglobin H disease, nondeletional, 613978 (3); Thalassemias, alpha-, 604131 (3); Erythrocytosis, 7, 617981 (3); Methemoglobinemia, alpha type, 617973 (3); Heinz body anemias, alpha-, 140700 (3), Autosomal dominant |
HBA2 | chr16 | 16pter-p13.3 | Thalassemia, alpha-, 604131 (3); Erythrocytosis 7, 617981 (3); Heinz body anemia, 140700 (3), Autosomal dominant; Hemoglobin H disease, deletional and nondeletional, 613978 (3) |
HBB | chr11 | 11p15.5 | Thalassemia, beta, 613985 (3); Methmoglobinemia, beta type, 617971 (3); Erythrocytosis 6, 617980 (3); Heinz body anemia, 140700 (3), Autosomal dominant; Delta-beta thalassemia, 141749 (3), Autosomal dominant; Thalassemia-beta, dominant inclusion-body, 603902 (3); Hereditary persistence of fetal hemoglobin, 141749 (3), Autosomal dominant; {Malaria, resistance to}, 611162 (3); Sickle cell anemia, 603903 (3), Autosomal recessive |
HCFC1 | chrX | Xq28 | Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3), X-linked recessive |
HEPACAM | chr11 | 11q24 | Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3), Autosomal recessive; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 (3), Autosomal dominant |
HERC1 | chr15 | 15q22.31 | Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 (3), Autosomal recessive |
HERC2 | chr15 | 15q13.1 | [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3), Autosomal recessive; Mental retardation, autosomal recessive 38, 615516 (3), Autosomal recessive; [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3), Autosomal recessive |
HES7 | chr17 | 17p13.2 | Spondylocostal dysostosis 4, autosomal recessive, 613686 (3), Autosomal recessive |
HESX1 | chr3 | 3p21.2-p21.1 | Pituitary hormone deficiency, combined, 5, 182230 (3), Autosomal recessive, Autosomal dominant; Septooptic dysplasia, 182230 (3), Autosomal recessive, Autosomal dominant; Growth hormone deficiency with pituitary anomalies, 182230 (3), Autosomal recessive, Autosomal dominant |
HEXA | chr15 | 15q23-q24 | GM2-gangliosidosis, several forms, 272800 (3), Autosomal recessive; Tay-Sachs disease, 272800 (3), Autosomal recessive; [Hex A pseudodeficiency], 272800 (3), Autosomal recessive |
HEXB | chr5 | 5q13 | Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3), Autosomal recessive |
HFE | chr6 | 6p21.3 | {Porphyria variegata, susceptibility to}, 176200 (3), Autosomal dominant; {Microvascular complications of diabetes 7}, 612635 (3); {Porphyria cutanea tarda, susceptibility to}, 176100 (3), Autosomal recessive, Autosomal dominant; [Transferrin serum level QTL2], 614193 (3); {Alzheimer disease, susceptibility to}, 104300 (3), Autosomal dominant; Hemochromatosis, 235200 (3), Autosomal recessive |
HFM1 | chr1 | 1p22.2 | Premature ovarian failure 9, 615724 (3), Autosomal recessive |
HGD | chr3 | 3q13.33 | Alkaptonuria, 203500 (3), Autosomal recessive |
HGF | chr7 | 7q21.1 | Deafness, autosomal recessive 39, 608265 (3), Autosomal recessive |
HGSNAT | chr8 | 8p11.1 | Retinitis pigmentosa 73, 616544 (3), Autosomal recessive; Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3), Autosomal recessive |
HIBCH | chr2 | 2q32.2 | 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3), Autosomal recessive |
HINT1 | chr5 | 5q31.2 | Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3), Autosomal recessive |
HJV/HFE2 | chr1 | 1q21.1 | Hemochromatosis, type 2A, 602390 (3), Autosomal recessive |
HK1 | chr10 | 10q22 | Hemolytic anemia due to hexokinase deficiency, 235700 (3), Autosomal recessive; Neuropathy, hereditary motor and sensory, Russe type, 605285 (3), Autosomal recessive; Neurodevelopmental disorder with visual defects and brain anomalies, 618547 (3), Autosomal dominant; Retinitis pigmentosa 79, 617460 (3), Autosomal dominant |
HLA-DQA1 | chr6 | 6p21.3 | {Celiac disease, susceptibility to}, 212750 (3), Multifactorial, Autosomal recessive |
HLA-DQB1 | chr6 | 6p21.3 | {Multiple sclerosis, susceptibility to, 1}, 126200 (3), Multifactorial; {Celiac disease, susceptibility to}, 212750 (3), Multifactorial, Autosomal recessive; {Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3), Autosomal dominant |
HLCS | chr21 | 21q22.1 | Holocarboxylase synthetase deficiency, 253270 (3), Autosomal recessive |
HMBS | chr 11 | 11q23.3 | Encephalopathy, porphyria-related, 620704 (3), Autosomal recessive; Leukoencephalopathy, porphyria-related, 620711 (3) Autosomal recessive |
HMGCL | chr1 | 1pter-p33 | HMG-CoA lyase deficiency, 246450 (3), Autosomal recessive |
HMGCS2 | chr1 | 1p13-p12 | HMG-CoA synthase-2 deficiency, 605911 (3), Autosomal recessive |
HMX1 | chr4 | 4p16.1 | Oculoauricular syndrome, 612109 (3), Autosomal recessive |
HNF1A | chr12 | 12q24.2 | {Diabetes mellitus, insulin-dependent}, 222100 (3), Autosomal recessive; MODY, type III, 600496 (3), Autosomal dominant; Hepatic adenoma, somatic, 142330 (3); Renal cell carcinoma, 144700 (3); Diabetes mellitus, insulin-dependent, 20, 612520 (3); {Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3), Autosomal dominant |
HNMT | chr2 | 2q22 | {Asthma, susceptibility to}, 600807 (3), Autosomal dominant; Mental retardation, autosomal recessive 51, 616739 (3), Autosomal recessive |
HOGA1 | chr10 | 10q24.2 | Hyperoxaluria, primary, type III, 613616 (3), Autosomal recessive |
HOXA1 | chr7 | 7p15.3 | Athabaskan brainstem dysgenesis syndrome, 601536 (3); Bosley-Salih-Alorainy syndrome, 601536 (3) |
HOXA2 | chr7 | 7p15-p14 | Microtia with or without hearing impairment (AD), 612290 (3), Autosomal recessive, Autosomal dominant; ?Microtia, hearing impairment, and cleft palate (AR), 612290 (3), Autosomal recessive, Autosomal dominant |
HOXB1 | chr17 | 17q21-q22 | Facial paresis, hereditary congenital, 3, 614744 (3), Autosomal recessive |
HOXC13 | chr12 | 12q13 | Ectodermal dysplasia 9, hair/nail type, 614931 (3), Autosomal recessive |
HPCA | chr1 | 1p35-p34.2 | Dystonia 2, torsion, autosomal recessive, 224500 (3), Autosomal recessive |
HPD | chr12 | 12q24-qter | Tyrosinemia, type III, 276710 (3), Autosomal recessive; Hawkinsinuria, 140350 (3), Autosomal dominant |
HPGD | chr4 | 4q34-q35 | Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 (3), Autosomal recessive; ?Digital clubbing, isolated congenital, 119900 (3), Autosomal recessive; Cranioosteoarthropathy, 259100 (3), Autosomal recessive |
HPRT1 | chrX | Xq26.2 | HPRT-related gout, 300323 (3), X-linked recessive; Lesch-Nyhan syndrome, 300322 (3), X-linked recessive |
HPS1 | chr10 | 10q23.1 | Hermansky-Pudlak syndrome 1, 203300 (3), Autosomal recessive |
HPS3 | chr3 | 3q24 | Hermansky-Pudlak syndrome 3, 614072 (3), Autosomal recessive |
HPS4 | chr22 | 22q11.2-q12.2 | Hermansky-Pudlak syndrome 4, 614073 (3), Autosomal recessive |
HPS5 | chr11 | 11p15-p13 | Hermansky-Pudlak syndrome 5, 614074 (3), Autosomal recessive |
HPS6 | chr10 | 10q24.32 | Hermansky-Pudlak syndrome 6, 614075 (3), Autosomal recessive |
HPSE2 | chr10 | 10q23-q24 | Urofacial syndrome 1, 236730 (3), Autosomal recessive |
HR | chr8 | 8p21.2 | Hypotrichosis 4, 146550 (3), Autosomal dominant; Alopecia universalis, 203655 (3), Autosomal recessive; Atrichia with papular lesions, 209500 (3), Autosomal recessive |
HSD11B2 | chr16 | 16q22 | Apparent mineralocorticoid excess, 218030 (3), Autosomal recessive |
HSD17B10 | chrX | Xp11.2 | HSD10 mitochondrial disease, 300438 (3), X-linked dominant |
HSD17B3 | chr9 | 9q22 | Pseudohermaphroditism, male, with gynecomastia, 264300 (3), Autosomal recessive |
HSD17B4 | chr5 | 5q23.1 | D-bifunctional protein deficiency, 261515 (3), Autosomal recessive; Perrault syndrome 1, 233400 (3), Autosomal recessive |
HSD3B2 | chr1 | 1p13.1 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, 201810 (3), Autosomal recessive |
HSD3B7 | chr16 | 16p12-p11.2 | Bile acid synthesis defect, congenital, 1, 607765 (3), Autosomal recessive |
HSPA9 | chr5 | 5q31.2 | Even-plus syndrome, 616854 (3), Autosomal recessive; Anemia, sideroblastic, 4, 182170 (3), Autosomal dominant |
HSPD1 | chr2 | 2q33.1 | Spastic paraplegia 13, autosomal dominant, 605280 (3), Autosomal dominant; Leukodystrophy, hypomyelinating, 4, 612233 (3), Autosomal recessive |
HSPG2 | chr1 | 1p36.1 | Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3), Autosomal recessive; Schwartz-Jampel syndrome, type 1, 255800 (3), Autosomal recessive |
HTRA1 | chr10 | 10q25.3-q26.2 | {Macular degeneration, age-related, neovascular type}, 610149 (3); {Macular degeneration, age-related, 7}, 610149 (3); Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 (3), Autosomal dominant; CARASIL syndrome, 600142 (3), Autosomal recessive |
HTRA2 | chr2 | 2p12 | {Parkinson disease 13}, 610297 (3); 3-methylglutaconic aciduria, type VIII, 617248 (3), Autosomal recessive |
HTT | chr4 | 4p16.3 | Huntington disease, 143100 (3), Autosomal dominant; Lopes-Maciel-Rodan syndrome, 617435 (3), Autosomal recessive |
HUWE1 | chrX | Xp11.2 | Mental retardation, X-linked syndromic, Turner type, 309590 (3), X-linked |
HYAL1 | chr3 | 3p21.3-p21.2 | ?Mucopolysaccharidosis type IX, 601492 (3), Autosomal recessive |
HYDIN | chr16 | 16q22.2 | Ciliary dyskinesia, primary, 5, 608647 (3), Autosomal recessive |
HYLS1 | chr11 | 11q24.2 | Hydrolethalus syndrome, 236680 (3), Autosomal recessive |
IARS2 | chr1 | 1q41 | ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 (3), Autosomal recessive |
IBA57 | chr1 | 1q42.13 | ?Spastic paraplegia 74, autosomal recessive, 616451 (3), Autosomal recessive; Multiple mitochondrial dysfunctions syndrome 3, 615330 (3), Autosomal recessive |
ICK | chr6 | 6p12.1 | Endocrine-cerebroosteodysplasia |
ICOS | chr2 | 2q33 | |
IDH3B | chr20 | 20p13 | Retinitis pigmentosa 46, 612572 (3) |
IDS | chrX | Xq28 | Mucopolysaccharidosis II, 309900 (3), X-linked recessive |
IDUA | chr4 | 4p16.3 | Mucopolysaccharidosis Ih/s, 607015 (3), Autosomal recessive; Mucopolysaccharidosis Ih, 607014 (3), Autosomal recessive; Mucopolysaccharidosis Is, 607016 (3), Autosomal recessive |
IER3IP1 | chr18 | 18q21.1 | Microcephaly, epilepsy, and diabetes syndrome, 614231 (3), Autosomal recessive |
IFNAR2 | chr21 | 21q22.1 | ?Immunodeficiency 45, 616669 (3), Autosomal recessive; {Hepatitis B virus, susceptibility to}, 610424 (3) |
IFNG | chr12 | 12q14 | ?Immunodeficiency 69, mycobacteriosis, 618963 (3), Autosomal recessive; {AIDS, rapid progression to}, 609423 (3); {TSC2 angiomyolipomas, renal, modifier of}, 613254 (3), Autosomal dominant; {Hepatitis C virus, response to therapy of}, 609532 (3); {Aplastic anemia}, 609135 (3); {Tuberculosis, protection against}, 607948 (3) |
IFNGR1 | chr6 | 6q23.3 | Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3), Autosomal recessive; {Tuberculosis infection, protection against}, 607948 (3); {Tuberculosis, susceptibility to}, 607948 (3); Immunodeficiency 27B, mycobacteriosis, AD, 615978 (3), Autosomal dominant; {H. pylori infection, susceptibility to}, 600263 (3); {Hepatitis B virus infection, susceptibility to}, 610424 (3) |
IFNGR2 | chr21 | 21q22.1-q22.2 | Immunodeficiency 28, mycobacteriosis, 614889 (3), Autosomal recessive |
IFT122 | chr3 | 3q21 | Cranioectodermal dysplasia 1, 218330 (3), Autosomal recessive |
IFT140 | chr16 | 16p13.3 | Retinitis pigmentosa 80, 617781 (3), Autosomal recessive; Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3), Autosomal recessive |
IFT172 | chr2 | 2p23.3 | Retinitis pigmentosa 71, 616394 (3), Autosomal recessive; Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3), Autosomal recessive |
IFT27 | chr22 | 22q12.3 | ?Bardet-Biedl syndrome 19, 615996 (3), Autosomal recessive |
IFT43 | chr14 | 14q24.3 | ?Cranioectodermal dysplasia 3, 614099 (3), Autosomal recessive; Short-rib thoracic dysplasia 18 with polydactyly, 617866 (3), Autosomal recessive; ?Retinitis pigmentosa 81, 617871 (3), Autosomal recessive |
IFT80 | chr3 | 3q25.33 | Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3), Autosomal recessive |
IGBP1 | chrX | Xq13.1-q13.3 | Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, 300472 (3), X-linked recessive |
IGF1 | chr12 | 12q22-q24.1 | Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 (3), Autosomal recessive |
IGF1R | chr15 | 15q25-q26 | Insulin-like growth factor I, resistance to, 270450 (3), Autosomal recessive, Autosomal dominant |
IGFALS | chr16 | 16p13.3 | Acid-labile subunit, deficiency of, 615961 (3) |
IGFBP7 | chr4 | 4q12 | Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3), Autosomal recessive |
IGHM | chr14 | 14q32.33 | Agammaglobulinemia 1, 601495 (3), Autosomal recessive |
IGHMBP2 | chr11 | 11q13.2-q13.4 | Neuronopathy, distal hereditary motor, type VI, 604320 (3), Autosomal recessive; Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3), Autosomal recessive |
IGLL1 | chr22 | 22q11.21 | Agammaglobulinemia 2, 613500 (3), Autosomal recessive |
IGSF1 | chrX | Xq25 | Hypothyroidism, central, and testicular enlargement, 300888 (3), X-linked recessive |
IGSF3 | chr1 | 1p13 | ?Lacrimal duct defect, 149700 (3), Autosomal recessive |
IHH | chr2 | 2q33-q35 | Acrocapitofemoral dysplasia, 607778 (3), Autosomal recessive; Brachydactyly, type A1, 112500 (3), Autosomal dominant |
IKBKB | chr8 | 8p11.2 | Immunodeficiency 15A, 618204 (3), Autosomal dominant; Immunodeficiency 15B, 615592 (3), Autosomal recessive |
IKBKG | chrX | Xq28 | Immunodeficiency 33, 300636 (3), X-linked recessive; Incontinentia pigmenti, 308300 (3), X-linked dominant; Ectodermal dysplasia and immunodeficiency 1, 300291 (3), X-linked recessive |
IL10RA | chr11 | 11q23.3 | Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3), Autosomal recessive |
IL10RB | chr21 | 21q22.1 | {Hepatitis B virus, susceptibility to}, 610424 (3); Inflammatory bowel disease 25, early onset, autosomal recessive, 612567 (3), Autosomal recessive |
IL11RA | chr9 | 9p13 | Craniosynostosis and dental anomalies, 614188 (3), Autosomal recessive |
IL12B | chr5 | 5q33.3 | Immunodeficiency 29, mycobacteriosis, 614890 (3), Autosomal recessive |
IL12RB1 | chr19 | 19p13.1 | Immunodeficiency 30, 614891 (3), Autosomal recessive |
IL17RA | chr22 | 22q11.22-q11.23 | Immunodeficiency 51, 613953 (3), Autosomal recessive |
IL17RD | chr3 | 3p14.3-p14.2 | Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3), Digenic dominant, Autosomal recessive, Autosomal dominant |
IL1RAPL1 | chrX | Xp22.1-p21.3 | Mental retardation, X-linked 21/34, 300143 (3), X-linked recessive |
IL1RN | chr2 | 2q14.2 | {Gastric cancer risk after H. pylori infection}, 137215 (3), Autosomal dominant; {Microvascular complications of diabetes 4}, 612628 (3); Interleukin 1 receptor antagonist deficiency, 612852 (3), Autosomal recessive |
IL21 | chr4 | 4q26-q27 | ?Immunodeficiency, common variable, 11, 615767 (3), Autosomal recessive |
IL21R | chr16 | 16p11 | [IgE, elevated level of], 147050 (3), Autosomal dominant; Immunodeficiency 56, 615207 (3), Autosomal recessive |
IL2RA | chr10 | 10p15.1 | Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 (3), Autosomal recessive; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942 (3) |
IL2RG | chrX | Xq13 | Severe combined immunodeficiency, X-linked, 300400 (3), X-linked recessive; Combined immunodeficiency, X-linked, moderate, 312863 (3), X-linked recessive |
IL36RN | chr2 | 2q13 | Psoriasis 14, pustular, 614204 (3), Autosomal recessive |
IL6 | chr7 | 7p21 | {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}, 108010 (3), Somatic mutation; {Rheumatoid arthritis, systemic juvenile}, 604302 (3); {Diabetes, susceptibility to},, 222100 (3), Autosomal recessive; {Kaposi sarcoma, susceptibility to}, 148000 (3), Autosomal dominant; {Crohn disease-associated growth failure}, 266600 (3), Multifactorial |
IL6R | chr1 | 1q21.3 | [Interleukin-6 receptor, soluble, serum level of, QTL], 614689 (3); [Interleukin 6, serum level of, QTL], 614752 (3); Hyper-IgE recurrent infection syndrome 5, autosomal recessive, 618944 (3), Autosomal recessive |
IL6ST | chr5 | 5q11 | Hyper-IgE recurrent infection syndrome 4, autosomal recessive, 618523 (3), Autosomal recessive |
IL7 | chr8 | 8q21.13 | {?Epidermodysplasia verruciformis, susceptibility to, 5}, 618309 (3), Autosomal recessive |
IL7R | chr5 | 5p13 | Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3), Autosomal recessive |
ILDR1 | chr3 | 3q21.1 | Deafness, autosomal recessive 42, 609646 (3), Autosomal recessive |
IMPAD1 | chr8 | 8q12.1 | Chondrodysplasia with joint dislocations, GPAPP type, 614078 (3), Autosomal recessive |
IMPG2 | chr3 | 3q11.2 | Macular dystrophy, vitelliform, 5, 616152 (3), Autosomal dominant; Retinitis pigmentosa 56, 613581 (3), Autosomal recessive |
INPP5K | chr17 | 17p13.3 | Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3), Autosomal recessive |
INPPL1 | chr11 | 11q23 | Opsismodysplasia, 258480 (3), Autosomal recessive |
INS | chr11 | 11p15.5 | Maturity-onset diabetes of the young, type 10, 613370 (3), Autosomal dominant; Hyperproinsulinemia, 616214 (3), Autosomal dominant; Diabetes mellitus, insulin-dependent, 2, 125852 (3), Autosomal dominant; Diabetes mellitus, permanent neonatal, 618858 (3), Autosomal recessive, Autosomal dominant |
INSR | chr19 | 19p13.2 | Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3), Autosomal dominant; Rabson-Mendenhall syndrome, 262190 (3), Autosomal recessive; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3); Leprechaunism, 246200 (3), Autosomal recessive |
INTU | chr4 | 4q28 | ?Short-rib thoracic dysplasia 20 with polydactyly, 617925 (3), Autosomal recessive; ?Orofaciodigital syndrome XVII, 617926 (3), Autosomal recessive |
INVS | chr9 | 9q31 | Nephronophthisis 2, infantile, 602088 (3), Autosomal recessive |
IQCB1 | chr3 | 3q13.33 | Senior-Loken syndrome 5, 609254 (3), Autosomal recessive |
IQCE | chr7 | 7p22.3 | ?Polydactyly, postaxial, type A7, 617642 (3), Autosomal recessive |
IRAK4 | chr12 | 12q12 | Immunodeficiency 67, 607676 (3), Autosomal recessive |
IRF7 | chr11 | 11p15.5 | ?Immunodeficiency 39, 616345 (3), Autosomal recessive |
IRF8 | chr16 | 16q24.1 | Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990 (3), Autosomal recessive; Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 (3), Autosomal dominant |
IRF9 | chr14 | 14q11.2 | Immunodeficiency 65, susceptibility to viral infections, 618648 (3), Autosomal recessive |
IRS4 | chrX | Xq22.3 | Hypothyroidism, congenital, nongoitrous, 9, 301035 (3), X-linked recessive |
IRX5 | chr16 | 16q11.2-q13 | Hamamy syndrome, 611174 (3), Autosomal recessive |
ISCA2 | chr14 | 14q24.3 | Multiple mitochondrial dysfunctions syndrome 4, 616370 (3), Autosomal recessive |
ISCU | chr12 | 12q24.1 | Myopathy with lactic acidosis, hereditary, 255125 (3), Autosomal recessive |
ISG15 | chr1 | 1p36.33 | Immunodeficiency 38, 616126 (3), Autosomal recessive |
ITCH | chr20 | 20q11.22-q11.23 | Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3), Autosomal recessive |
ITGA2B | chr17 | 17q21.32 | Glanzmann thrombasthenia, 273800 (3), Autosomal recessive; Thrombocytopenia, neonatal alloimmune, BAK antigen related (3); Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3), Autosomal dominant |
ITGA3 | chr17 | 17q21.33 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 (3), Autosomal recessive |
ITGA6 | chr2 | 2q31.1 | Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3), Autosomal recessive |
ITGA7 | chr12 | 12q13 | Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3), Autosomal recessive |
ITGA8 | chr10 | 10p13 | Renal hypodysplasia/aplasia 1, 191830 (3), Autosomal recessive |
ITGB2 | chr21 | 21q22.3 | Leukocyte adhesion deficiency, 116920 (3), Autosomal recessive |
ITGB3 | chr17 | 17q21.32 | Purpura, posttransfusion (3); Thrombocytopenia, neonatal alloimmune (3); Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3), Autosomal dominant; {Myocardial infarction, susceptibility to}, 608446 (3); Glanzmann thrombasthenia, 273800 (3), Autosomal recessive |
ITGB4 | chr17 | 17q11-qter | Epidermolysis bullosa of hands and feet, 131800 (3), Autosomal dominant; Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3), Autosomal recessive; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3), Autosomal recessive |
ITGB6 | chr2 | 2q24.2 | Amelogenesis imperfecta, type IH, 616221 (3), Autosomal recessive |
ITK | chr5 | 5q32 | Lymphoproliferative syndrome 1, 613011 (3), Autosomal recessive |
ITPA | chr20 | 20p | [Inosine triphosphatase deficiency], 613850 (3); Epileptic encephalopathy, early infantile, 35, 616647 (3), Autosomal recessive |
ITPR1 | chr3 | 3p26.1 | Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3), Autosomal dominant; Spinocerebellar ataxia 15, 606658 (3), Autosomal dominant; Gillespie syndrome, 206700 (3), Autosomal recessive, Autosomal dominant |
ITPR2 | chr12 | 12p11 | ?Anhidrosis, isolated, with normal sweat glands, 106190 (3), Autosomal recessive |
ITPR3 | chr6 | 6pter-p21 | {Diabetes, type 1, susceptibility to}, 222100 (2), Autosomal recessive |
IVD | chr15 | 15q14-q15 | Isovaleric acidemia, 243500 (3), Autosomal recessive |
IYD | chr6 | 6q24-q25 | Thyroid dyshormonogenesis 4, 274800 (3), Autosomal recessive |
JAGN1 | chr3 | 3p25.3 | Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3), Autosomal recessive |
JAK3 | chr19 | 19p13.1 | SCID, autosomal recessive, T-negative/B-positive type, 600802 (3), Autosomal recessive |
JAM3 | chr11 | 11q25 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3), Autosomal recessive |
JUP | chr17 | 17q21 | Arrhythmogenic right ventricular dysplasia 12, 611528 (3), Autosomal dominant; Naxos disease, 601214 (3), Autosomal recessive |
KANK2 | chr19 | 19p13.2 | Palmoplantar keratoderma and woolly hair, 616099 (3), Autosomal recessive; Nephrotic syndrome, type 16, 617783 (3), Autosomal recessive |
KATNB1 | chr16 | 16q21 | Lissencephaly 6, with microcephaly, 616212 (3), Autosomal recessive |
KCNA4 | chr11 | 11q13.4-q14.1 | Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum, 618284 (3), Autosomal recessive |
KCNE1 | chr21 | 21q22.1-q22.2 | Long QT syndrome 5, 613695 (3), Autosomal dominant; Jervell and Lange-Nielsen syndrome 2, 612347 (3), Autosomal recessive |
KCNJ1 | chr11 | 11q24 | Bartter syndrome, type 2, 241200 (3), Autosomal recessive |
KCNJ10 | chr1 | 1q23.2 | Enlarged vestibular aqueduct, digenic, 600791 (3), Autosomal recessive; SESAME syndrome, 612780 (3), Autosomal recessive |
KCNJ11 | chr11 | 11p15.1 | Maturity-onset diabetes of the young, type 13, 616329 (3), Autosomal dominant; {Diabetes mellitus, type 2, susceptibility to}, 125853 (3), Autosomal dominant; Diabetes, permanent neonatal 2, with or without neurologic features, 618856 (3), Autosomal dominant; Diabetes mellitus, transient neonatal, 3, 610582 (3), Autosomal dominant; Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3), Autosomal recessive |
KCNJ13 | chr2 | 2q37 | Leber congenital amaurosis 16, 614186 (3), Autosomal recessive; Snowflake vitreoretinal degeneration, 193230 (3), Autosomal dominant |
KCNMA1 | chr10 | 10q22.3 | Liang-Wang syndrome, 618729 (3), Autosomal dominant; {Epilepsy, idiopathic generalized, susceptibility to, 16}, 618596 (3), Autosomal dominant; Cerebellar atrophy, developmental delay, and seizures, 617643 (3), Autosomal recessive; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3), Autosomal dominant |
KCNQ1 | chr11 | 11p15.5 | Long QT syndrome 1, 192500 (3), Autosomal dominant; Jervell and Lange-Nielsen syndrome, 220400 (3), Autosomal recessive; Short QT syndrome 2, 609621 (3), Autosomal dominant; {Long QT syndrome 1, acquired, susceptibility to}, 192500 (3), Autosomal dominant; Atrial fibrillation, familial, 3, 607554 (3), Autosomal dominant |
KCNV2 | chr9 | 9p24.2 | Retinal cone dystrophy 3B, 610356 (3), Autosomal recessive |
KCTD7 | chr7 | 7q11.21 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3), Autosomal recessive |
KDM5B | chr1 | 1q32 | Mental retardation, autosomal recessive 65, 618109 (3), Autosomal recessive |
KDM5C | chrX | Xp11.22-p11.21 | Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3), X-linked recessive |
KDSR | chr18 | 18q21.3 | Erythrokeratodermia variabilis et progressiva 4, 617526 (3), Autosomal recessive |
KERA | chr12 | 12q22 | Cornea plana 2, autosomal recessive, 217300 (3), Autosomal recessive |
KHDC3L | chr6 | 6q13 | Hydatidiform mole, recurrent, 2, 614293 (3), Autosomal recessive |
KHK | chr2 | 2p23.3-p23.2 | [Fructosuria], 229800 (3), Autosomal recessive |
KIAA0753 | chr17 | 17p13.1 | Short-rib thoracic dysplasia 21 without polydactyly, 619479 (3), Autosomal recessive |
KIAA1109 | chr4 | 4q27 | Alkuraya-Kucinskas syndrome, 617822 (3), Autosomal recessive |
KIAA1549 | chr7 | 7q34 | Retinitis pigmentosa 86, 618613 (3), Autosomal recessive |
KIF14 | chr1 | 1q31 | Microcephaly 20, primary, autosomal recessive, 617914 (3), Autosomal recessive; ?Meckel syndrome 12, 616258 (3), Autosomal recessive |
KIF1A | chr2 | 2q37 | NESCAV syndrome, 614255 (3), Autosomal dominant; Spastic paraplegia 30, autosomal dominant, 610357 (3), Autosomal recessive, Autosomal dominant; Neuropathy, hereditary sensory, type IIC, 614213 (3), Autosomal recessive; Spastic paraplegia 30, autosomal recessive, 610357 (3), Autosomal recessive, Autosomal dominant |
KIF1C | chr17 | 17p13.2 | Spastic ataxia 2, autosomal recessive, 611302 (3), Autosomal recessive |
KIF4A | chrX | Xq13.1 | ?Mental retardation, X-linked 100, 300923 (3), X-linked recessive |
KIF7 | chr15 | 15q26.1 | ?Hydrolethalus syndrome 2, 614120 (3), Autosomal recessive; Acrocallosal syndrome, 200990 (3), Autosomal recessive; Joubert syndrome 12, 200990 (3), Autosomal recessive; ?Al-Gazali-Bakalinova syndrome, 607131 (3), Autosomal recessive |
KISS1 | chr1 | 1q32 | ?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3), Autosomal recessive |
KISS1R | chr19 | 19p13.3 | Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3), Autosomal recessive; ?Precocious puberty, central, 1, 176400 (3), Autosomal dominant |
KIZ | chr20 | 20p11.23 | Retinitis pigmentosa 69, 615780 (3), Autosomal recessive |
KL | chr13 | 13q12 | ?Tumoral calcinosis, hyperphosphatemic, familial, 3, 617994 (3), Autosomal recessive |
KLHDC8B | chr3 | 3p21.31 | {Hodgkin lymphoma, susceptibility to}, 236000 (3), Autosomal recessive |
KLHL15 | chrX | Xp22.1 | Mental retardation, X-linked 103, 300982 (3), X-linked recessive |
KLHL3 | chr5 | 5q31 | Pseudohypoaldosteronism, type IID, 614495 (3), Autosomal recessive, Autosomal dominant |
KLHL40 | chr3 | 3p22.1 | Nemaline myopathy 8, autosomal recessive, 615348 (3), Autosomal recessive |
KLHL41 | chr2 | 2q31.1 | Nemaline myopathy 9, 615731 (3), Autosomal recessive |
KLHL7 | chr7 | 7p15.3 | Retinitis pigmentosa 42, 612943 (3), Autosomal dominant; PERCHING syndrome, 617055 (3), Autosomal recessive |
KLK4 | chr19 | 19q13.4 | Amelogenesis imperfecta, type IIA1, 204700 (3), Autosomal recessive |
KLKB1 | chr4 | 4q35 | Fletcher factor (prekallikrein) deficiency, 612423 (3), Autosomal recessive |
KNG1 | chr3 | 3q27 | [Kininogen deficiency], 228960 (3), Autosomal recessive; [High molecular weight kininogen deficiency], 228960 (3), Autosomal recessive |
KNL1 | chr15 | 15q15.1 | Microcephaly 4, primary, autosomal recessive, 604321 (3), Autosomal recessive |
KPTN | chr19 | 19q13.4 | Mental retardation, autosomal recessive 41, 615637 (3), Autosomal recessive |
KRT1 | chr12 | 12q13 | Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3), Autosomal dominant; Keratosis palmoplantaris striata III, 607654 (3); Palmoplantar keratoderma, epidermolytic, 144200 (3), Autosomal dominant; Palmoplantar keratoderma, nonepidermolytic, 600962 (3), Autosomal dominant; Ichthyosis histrix, Curth-Macklin type, 146590 (3), Autosomal dominant; Epidermolytic hyperkeratosis, 113800 (3), Autosomal recessive, Autosomal dominant |
KRT10 | chr17 | 17q21-q22 | Epidermolytic hyperkeratosis, 113800 (3), Autosomal recessive, Autosomal dominant; Ichthyosis with confetti, 609165 (3), Autosomal dominant; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3), Autosomal dominant |
KRT14 | chr17 | 17q12-q21 | Naegeli- Franceschetti-Jadassohn syndrome, 161000 (3), Autosomal dominant; Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3), Autosomal dominant; Dermatopathia pigmentosa reticularis, 125595 (3), Autosomal dominant; Epidermolysis bullosa simplex, Koebner type, 131900 (3), Autosomal dominant; Epidermolysis bullosa simplex, recessive 1, 601001 (3), Autosomal recessive; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3), Autosomal dominant |
KRT18 | chr12 | 12q13 | {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3), Autosomal recessive; Cirrhosis, cryptogenic, 215600 (3), Autosomal recessive |
KRT5 | chr12 | 12q13 | Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3), Autosomal dominant; Epidermolysis bullosa simplex-MCR, 609352 (3); Epidermolysis bullosa simplex-MP, 131960 (3), Autosomal dominant; Dowling-Degos disease 1, 179850 (3), Autosomal dominant; Epidermolysis bullosa simplex, Koebner type, 131900 (3), Autosomal dominant; Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3), Autosomal dominant; Epidermolysis bullosa simplex, recessive 1, 601001 (3), Autosomal recessive |
KRT74 | chr12 | 12q13 | ?Ectodermal dysplasia 7, hair/nail type, 614929 (3), Autosomal recessive; Woolly hair, autosomal dominant, 194300 (3), Autosomal dominant; ?Hypotrichosis 3, 613981 (3), Autosomal dominant |
KRT8 | chr12 | 12q13 | {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3), Autosomal recessive; Cirrhosis, cryptogenic, 215600 (3), Autosomal recessive |
KRT83 | chr12 | 12q13 | Erythrokeratodermia variabilis et progressiva 5, 617756 (3), Autosomal recessive; Monilethrix, 158000 (3), Autosomal dominant |
KRT85 | chr12 | 12q13 | Ectodermal dysplasia 4, hair/nail type, 602032 (3), Autosomal recessive |
KYNU | chr2 | 2q22.2 | Vertebral, cardiac, renal, and limb defects syndrome 2, 617661 (3), Autosomal recessive; ?Hydroxykynureninuria, 236800 (3), Autosomal recessive |
L1CAM | chrX | Xq28 | MASA syndrome, 303350 (3), X-linked recessive; Hydrocephalus with Hirschsprung disease, 307000 (3), X-linked recessive; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3), X-linked recessive; Corpus callosum, partial agenesis of, 304100 (3), X-linked recessive; CRASH syndrome, 303350 (3), X-linked recessive; Hydrocephalus due to aqueductal stenosis, 307000 (3), X-linked recessive |
L2HGDH | chr14 | 14q22.1 | L-2-hydroxyglutaric aciduria, 236792 (3), Autosomal recessive |
LAMA1 | chr18 | 18p11.31 | Poretti-Boltshauser syndrome, 615960 (3), Autosomal recessive |
LAMA2 | chr6 | 6q22-q23 | Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 (3), Autosomal recessive; Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3), Autosomal recessive |
LAMA3 | chr18 | 18q11.2 | Epidermolysis bullosa, junctional, Herlitz type, 226700 (3), Autosomal recessive; Laryngoonychocutaneous syndrome, 245660 (3), Autosomal recessive; Epidermolysis bullosa, generalized atrophic benign, 226650 (3), Autosomal recessive |
LAMB1 | chr7 | 7q31.1-q31.3 | Lissencephaly 5, 615191 (3), Autosomal recessive |
LAMB2 | chr3 | 3p21 | Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3); Pierson syndrome, 609049 (3), Autosomal recessive |
LAMB3 | chr1 | 1q32 | Amelogenesis imperfecta, type IA, 104530 (3), Autosomal dominant; Epidermolysis bullosa, junctional, Herlitz type, 226700 (3), Autosomal recessive; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3), Autosomal recessive |
LAMC2 | chr1 | 1q25-q31 | Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3), Autosomal recessive; Epidermolysis bullosa, junctional, Herlitz type, 226700 (3), Autosomal recessive |
LAMC3 | chr9 | 9q33-q34 | Cortical malformations, occipital, 614115 (3), Autosomal recessive |
LAMTOR2 | chr1 | 1q22 | Immunodeficiency due to defect in MAPBP-interacting protein, 610798 (3), Autosomal recessive |
LARGE1 | chr22 | 22q12.3-q13.1 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3), Autosomal recessive |
LARP7 | chr4 | 4q25 | Alazami syndrome, 615071 (3), Autosomal recessive |
LARS2 | chr3 | 3p21.3 | Perrault syndrome 4, 615300 (3), Autosomal recessive; ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3), Autosomal recessive |
LAS1L | chrX | Xq12 | Wilson-Turner syndrome, 309585 (3), X-linked recessive |
LBR | chr1 | 1q42.1 | Pelger-Huet anomaly, 169400 (3), Autosomal dominant; Greenberg skeletal dysplasia, 215140 (3), Autosomal recessive; ?Reynolds syndrome, 613471 (3), Autosomal dominant; Pelger-Huet anomaly with mild skeletal anomalies, 618019 (3) |
LCA5 | chr6 | 6q14.1 | Leber congenital amaurosis 5, 604537 (3), Autosomal recessive |
LCAT | chr16 | 16q22.1 | Norum disease, 245900 (3), Autosomal recessive; Fish-eye disease, 136120 (3), Autosomal recessive |
LCK | chr1 | 1p35-p34.3 | ?Immunodeficiency 22, 615758 (3), Autosomal recessive |
LCT | chr2 | 2q21 | Lactase deficiency, congenital, 223000 (3), Autosomal recessive |
LDHA | chr11 | 11p15.4 | Glycogen storage disease XI, 612933 (3), Autosomal recessive |
LDLRAP1 | chr1 | 1p36-p35 | Hypercholesterolemia, familial, 4, 603813 (3), Autosomal recessive |
LEP | chr7 | 7q31.3 | Obesity, morbid, due to leptin deficiency, 614962 (3), Autosomal recessive |
LEPR | chr1 | 1p31 | Obesity, morbid, due to leptin receptor deficiency, 614963 (3), Autosomal recessive |
LFNG | chr7 | 7p22 | Spondylocostal dysostosis 3, autosomal recessive, 609813 (3), Autosomal recessive |
LGI4 | chr19 | 19q13.11 | Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, 617468 (3), Autosomal recessive |
LHB | chr19 | 19q13.32 | Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3), Autosomal recessive |
LHCGR | chr2 | 2p21 | Leydig cell adenoma, somatic, with precocious puberty, 176410 (3); Precocious puberty, male, 176410 (3), Autosomal dominant; Luteinizing hormone resistance, female, 238320 (3), Autosomal recessive; Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3), Autosomal recessive; Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3), Autosomal recessive |
LHFPL5 | chr6 | 6p21.3 | Deafness, autosomal recessive 67, 610265 (3), Autosomal recessive |
LHX3 | chr9 | 9q34.3 | Pituitary hormone deficiency, combined, 3, 221750 (3), Autosomal recessive |
LIAS | chr4 | 4p14 | Hyperglycinemia, lactic acidosis, and seizures, 614462 (3), Autosomal recessive |
LIFR | chr5 | 5p13.1 | Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3), Autosomal recessive |
LIG4 | chr13 | 13q22-q34 | {Multiple myeloma, resistance to}, 254500 (3), Somatic mutation; LIG4 syndrome, 606593 (3), Autosomal recessive |
LIM2 | chr19 | 19q13.4 | Cataract 19, multiple types, 615277 (3), Autosomal recessive |
LIMS2 | chr2 | 2q14.3 | ?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue, 616827 (3), Autosomal recessive |
LINS1 | chr15 | 15q26 | Mental retardation, autosomal recessive 27, 614340 (3), Autosomal recessive |
LIPA | chr10 | 10q23.31 | Wolman disease, 278000 (3), Autosomal recessive; Cholesteryl ester storage disease, 278000 (3), Autosomal recessive |
LIPC | chr15 | 15q21.3 | [High density lipoprotein cholesterol level QTL 12], 612797 (3); Hepatic lipase deficiency, 614025 (3), Autosomal recessive; {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant |
LIPE | chr19 | 19q13.1-q13.2 | Lipodystrophy, familial partial, type 6, 615980 (3), Autosomal recessive |
LIPH | chr3 | 3q27-q28 | Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379 (3), Autosomal recessive; Hypotrichosis 7, 604379 (3), Autosomal recessive |
LIPN | chr10 | 10q23.31 | Ichthyosis, congenital, autosomal recessive 8, 613943 (3), Autosomal recessive |
LIPT1 | chr2 | 2q11.2 | Lipoyltransferase 1 deficiency, 616299 (3), Autosomal recessive |
LMAN1 | chr18 | 18q21.3-q22 | Combined factor V and VIII deficiency, 227300 (3), Autosomal recessive |
LMAN2L | chr2 | 2q11.2 | ?Mental retardation, autosomal recessive, 52, 616887 (3), Autosomal recessive |
LMBR1 | chr7 | 7q36 | Triphalangeal thumb-polysyndactyly syndrome, 174500 (3), Autosomal dominant; Syndactyly, type IV, 186200 (3), Autosomal dominant; Triphalangeal thumb, type I, 174500 (3), Autosomal dominant; Acheiropody, 200500 (3), Autosomal recessive; Laurin-Sandrow syndrome, 135750 (3), Autosomal dominant; Hypoplastic or aplastic tibia with polydactyly, 188740 (3), Autosomal dominant; Polydactyly, preaxial type II, 174500 (3), Autosomal dominant |
LMBRD1 | chr6 | 6q13 | Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3), Autosomal recessive |
LMF1 | chr16 | 16p13.3 | Lipase deficiency, combined, 246650 (3), Autosomal recessive |
LMNA | chr1 | 1q21.2 | Muscular dystrophy, congenital, 613205 (3), Autosomal dominant; Lipodystrophy, familial partial, type 2, 151660 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 2B1, 605588 (3), Autosomal recessive; Cardiomyopathy, dilated, 1A, 115200 (3), Autosomal dominant; Heart-hand syndrome, Slovenian type, 610140 (3), Autosomal dominant; Hutchinson-Gilford progeria, 176670 (3), Autosomal recessive, Autosomal dominant; Restrictive dermopathy, lethal, 275210 (3), Autosomal recessive; Mandibuloacral dysplasia, 248370 (3), Autosomal recessive; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350 (3), Autosomal dominant; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516 (3), Autosomal recessive; Malouf syndrome, 212112 (3), Autosomal dominant |
LMNB2 | chr19 | 19p13.3 | {Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3), Autosomal dominant; ?Epilepsy, progressive myoclonic, 9, 616540 (3), Autosomal recessive |
LMOD3 | chr3 | 3p14.1 | Nemaline myopathy 10, 616165 (3), Autosomal recessive |
LONP1 | chr19 | 19p13.2 | CODAS syndrome, 600373 (3), Autosomal recessive |
LOXHD1 | chr18 | 18q12-q21 | Deafness, autosomal recessive 77, 613079 (3), Autosomal recessive |
LPAR6 | chr13 | 13q14.12-q14.2 | Hypotrichosis 8, 278150 (3), Autosomal recessive; Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150 (3), Autosomal recessive |
LPIN1 | chr2 | 2p21 | Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3), Autosomal recessive |
LPIN2 | chr18 | 18p11.31 | Majeed syndrome, 609628 (3) |
LPL | chr8 | 8p22 | Lipoprotein lipase deficiency, 238600 (3), Autosomal recessive; [High density lipoprotein cholesterol level QTL 11], 238600 (3), Autosomal recessive; Combined hyperlipidemia, familial, 144250 (3), Autosomal dominant |
LRAT | chr4 | 4q31 | Retinal dystrophy, early-onset severe, 613341 (3), Autosomal recessive; Leber congenital amaurosis 14, 613341 (3), Autosomal recessive; Retinitis pigmentosa, juvenile, 613341 (3), Autosomal recessive |
LRBA | chr4 | 4q31.3 | Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3), Autosomal recessive |
LRIG2 | chr1 | 1p13 | Urofacial syndrome 2, 615112 (3), Autosomal recessive |
LRIT3 | chr4 | 4q25 | Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3), Autosomal recessive |
LRMDA | chr10 | 10q22.3 | Albinism, oculocutaneous, type VII, 615179 (3), Autosomal recessive |
LRP1 | chr12 | 12q13.1-q13.3 | ?Keratosis pilaris atrophicans, 604093 (3), Autosomal recessive |
LRP2 | chr2 | 2q24-q31 | Donnai-Barrow syndrome, 222448 (3), Autosomal recessive |
LRP4 | chr11 | 11p12-p11.2 | ?Myasthenic syndrome, congenital, 17, 616304 (3), Autosomal recessive; Sclerosteosis 2, 614305 (3), Autosomal recessive, Autosomal dominant; Cenani-Lenz syndactyly syndrome, 212780 (3), Autosomal recessive |
LRP5 | chr11 | 11q13.4 | van Buchem disease, type 2, 607636 (3), Autosomal dominant; Exudative vitreoretinopathy 4, 601813 (3), Autosomal recessive, Autosomal dominant; Hyperostosis, endosteal, 144750 (3), Autosomal dominant; Osteosclerosis, 144750 (3), Autosomal dominant; Polycystic liver disease 4 with or without kidney cysts, 617875 (3), Autosomal dominant; Osteoporosis-pseudoglioma syndrome, 259770 (3), Autosomal recessive; Osteopetrosis, autosomal dominant 1, 607634 (3), Autosomal dominant; {Osteoporosis}, 166710 (3), Autosomal dominant; [Bone mineral density variability 1], 601884 (3), Autosomal dominant |
LRPAP1 | chr4 | 4p16.3 | Myopia 23, autosomal recessive, 615431 (3), Autosomal recessive |
LRPPRC | chr2 | 2p21 | Leigh syndrome, French-Canadian type, 220111 (3), Autosomal recessive |
LRRC6 | chr8 | 8q24.22 | Ciliary dyskinesia, primary, 19, 614935 (3), Autosomal recessive |
LRSAM1 | chr9 | 9q33.3-q34.11 | Charcot-Marie-Tooth disease, axonal, type 2P, 614436 (3), Autosomal recessive, Autosomal dominant |
LRTOMT | chr11 | 11q13.3-q13.4 | Deafness, autosomal recessive 63, 611451 (3), Autosomal recessive |
LTBP2 | chr14 | 14q24 | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3), Autosomal recessive; Glaucoma 3, primary congenital, D, 613086 (3); ?Weill-Marchesani syndrome 3, recessive, 614819 (3), Autosomal recessive |
LTBP3 | chr11 | 11q12 | Dental anomalies and short stature, 601216 (3), Autosomal recessive; Geleophysic dysplasia 3, 617809 (3), Autosomal dominant |
LTBP4 | chr19 | 19q13.1-q13.2 | Cutis laxa, autosomal recessive, type IC, 613177 (3), Autosomal recessive |
LTC4S | chr5 | 5q35 | Leukotriene C4 synthase deficiency, 614037 (1), Autosomal recessive |
LYRM4 | chr6 | 6p25.1 | ?Combined oxidative phosphorylation deficiency 19, 615595 (3), Autosomal recessive |
LYRM7 | chr5 | 5q23.3 | Mitochondrial complex III deficiency, nuclear type 8, 615838 (3), Autosomal recessive |
LYST | chr1 | 1q42.3 | Chediak-Higashi syndrome, 214500 (3), Autosomal recessive |
LZTFL1 | chr3 | 3p21.3 | Bardet-Biedl syndrome 17, 615994 (3), Autosomal recessive |
LZTR1 | chr22 | 22q11.1-q11.2 | {Schwannomatosis-2, susceptibility to}, 615670 (3), Autosomal dominant; Noonan syndrome 2, 605275 (3), Autosomal recessive; Noonan syndrome 10, 616564 (3), Autosomal dominant |
MAB21L2 | chr4 | 4q31.3 | Microphthalmia/coloboma and skeletal dysplasia syndrome, 615877 (3), Autosomal recessive, Autosomal dominant |
MAG | chr19 | 19q13.1 | Spastic paraplegia 75, autosomal recessive, 616680 (3), Autosomal recessive |
MAGI2 | chr7 | 7q21 | Nephrotic syndrome, type 15, 617609 (3), Autosomal recessive |
MAGT1 | chrX | Xq13.1-q13.2 | Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 (3), X-linked recessive; Congenital disorder of glycosylation, type Icc, 301031 (3), X-linked recessive |
MAK | chr6 | 6p24.2 | Retinitis pigmentosa 62, 614181 (3), Autosomal recessive |
MALT1 | chr18 | 18q21 | Immunodeficiency 12, 615468 (3), Autosomal recessive |
MAMLD1 | chrX | Xq28 | Hypospadias 2, X-linked, 300758 (3), X-linked recessive |
MAN1B1 | chr9 | 9q34.3 | Mental retardation, autosomal recessive 15, 614202 (3), Autosomal recessive |
MAN2B1 | chr19 | 19cen-q12 | Mannosidosis, alpha-, types I and II, 248500 (3), Autosomal recessive |
MANBA | chr4 | 4q22-q25 | Mannosidosis, beta, 248510 (3), Autosomal recessive |
MAOA | chrX | Xp11.23 | Brunner syndrome, 300615 (3), X-linked recessive; {Antisocial behavior}, 300615 (3), X-linked recessive |
MAPT | chr17 | 17q21.1 | Pick disease, 172700 (3), Autosomal dominant; Dementia, frontotemporal, with or without parkinsonism, 600274 (3), Autosomal dominant; {Parkinson disease, susceptibility to}, 168600 (3), Multifactorial, Autosomal dominant; Supranuclear palsy, progressive, 601104 (3), Autosomal dominant; Supranuclear palsy, progressive atypical, 260540 (3), Autosomal recessive |
MARS2 | chr2 | 2q33.1 | Spastic ataxia 3, autosomal recessive, 611390 (3), Autosomal recessive; ?Combined oxidative phosphorylation deficiency 25, 616430 (3), Autosomal recessive |
MARVELD2 | chr5 | 5q13.1 | Deafness, autosomal recessive 49, 610153 (3), Autosomal recessive |
MASP1 | chr3 | 3q27-q28 | 3MC syndrome 1, 257920 (3), Autosomal recessive |
MASP2 | chr1 | 1p36.3-p36.2 | MASP2 deficiency, 613791 (3), Autosomal recessive |
MAT1A | chr10 | 10q22 | Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3), Autosomal recessive, Autosomal dominant; Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3), Autosomal recessive, Autosomal dominant |
MATN3 | chr2 | 2p24-p23 | {Osteoarthritis susceptibility 2}, 140600 (3), Autosomal dominant; ?Spondyloepimetaphyseal dysplasia, 608728 (3), Autosomal recessive; Epiphyseal dysplasia, multiple, 5, 607078 (3), Autosomal dominant |
MBOAT7 | chr19 | 19q13.4 | Mental retardation, autosomal recessive 57, 617188 (3), Autosomal recessive |
MBTPS2 | chrX | Xp22.12-p22.11 | IFAP syndrome with or without BRESHECK syndrome, 308205 (3), X-linked recessive; Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3), X-linked recessive; Osteogenesis imperfecta, type XIX, 301014 (3), X-linked recessive; ?Olmsted syndrome, X-linked, 300918 (3), X-linked recessive |
MC1R | chr16 | 16q24.3 | [Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3), Autosomal recessive; {Albinism, oculocutaneous, type II, modifier of}, 203200 (3), Autosomal recessive; {Melanoma, cutaneous malignant, 5}, 613099 (3); [Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3); {UV-induced skin damage}, 266300 (3), Autosomal recessive; [Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3), Autosomal recessive |
MC2R | chr18 | 18p11.2 | Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3), Autosomal recessive |
MC4R | chr18 | 18q22 | Obesity (BMIQ20), 618406 (3), Autosomal recessive, Autosomal dominant; {Obesity, resistance to (BMIQ20)}, 618306 (3) |
MCCC1 | chr3 | 3q25-q27 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3), Autosomal recessive |
MCCC2 | chr5 | 5q12-q13 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3), Autosomal recessive |
MCEE | chr2 | 2p13.3 | Methylmalonyl-CoA epimerase deficiency, 251120 (3), Autosomal recessive |
MCM3AP | chr21 | 21q22.3 | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 (3), Autosomal recessive |
MCM4 | chr8 | 8q11.2 | Immunodeficiency 54, 609981 (3), Autosomal recessive |
MCM5 | chr22 | 22q13.1 | ?Meier-Gorlin syndrome 8, 617564 (3), Autosomal recessive |
MCM8 | chr20 | 20p13-p12.3 | ?Premature ovarian failure 10, 612885 (3), Autosomal recessive |
MCM9 | chr6 | 6q22.1-q22.33 | Ovarian dysgenesis 4, 616185 (3), Autosomal recessive |
MCOLN1 | chr19 | 19p13.3-p13.2 | Mucolipidosis IV, 252650 (3), Autosomal recessive |
MCPH1 | chr8 | 8p23 | Microcephaly 1, primary, autosomal recessive, 251200 (3), Autosomal recessive |
MDH2 | chr7 | 7q11.23 | Epileptic encephalopathy, early infantile, 51, 617339 (3), Autosomal recessive |
MDM2 | chr12 | 12q14.3-q15 | {Accelerated tumor formation, susceptibility to}, 614401 (3), Autosomal dominant; ?Lessel-Kubisch syndrome, 618681 (3), Autosomal recessive |
MECP2 | chrX | Xq28 | Mental retardation, X-linked syndromic, Lubs type, 300260 (3), X-linked recessive; Encephalopathy, neonatal severe, 300673 (3), X-linked recessive; Mental retardation, X-linked, syndromic 13, 300055 (3), X-linked recessive; Rett syndrome, atypical, 312750 (3), X-linked dominant; {Autism susceptibility, X-linked 3}, 300496 (3), X-linked; Rett syndrome, 312750 (3), X-linked dominant; Rett syndrome, preserved speech variant, 312750 (3), X-linked dominant |
MED12 | chrX | Xq13 | Ohdo syndrome, X-linked, 300895 (3), X-linked recessive; Lujan-Fryns syndrome, 309520 (3), X-linked recessive; Opitz-Kaveggia syndrome, 305450 (3), X-linked recessive |
MED17 | chr11 | 11q21 | Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3), Autosomal recessive |
MED23 | chr6 | 6q23.2 | Mental retardation, autosomal recessive 18, 614249 (3), Autosomal recessive |
MED25 | chr19 | 19q13.3 | Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3), Autosomal recessive |
MEFV | chr16 | 16p13 | Neutrophilic dermatosis, acute febrile, 608068 (3), Autosomal dominant; Familial Mediterranean fever, AR, 249100 (3), Autosomal recessive; Familial Mediterranean fever, AD, 134610 (3), Autosomal dominant |
MEGF10 | chr5 | 5q23.2 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3), Autosomal recessive; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3), Autosomal recessive |
MEGF8 | chr19 | 19q12 | Carpenter syndrome 2, 614976 (3), Autosomal recessive |
MEOX1 | chr17 | 17q21 | Klippel-Feil syndrome 2, 214300 (3), Autosomal recessive |
MERTK | chr2 | 2q14.1 | Retinitis pigmentosa 38, 613862 (3), Autosomal recessive |
MESD | chr15 | 15q25.1 | Osteogenesis imperfecta, type XX, 618644 (3), Autosomal recessive |
MESP2 | chr15 | 15q26.1 | Spondylocostal dysostosis 2, autosomal recessive, 608681 (3), Autosomal recessive |
MET | chr7 | 7q31 | {Osteofibrous dysplasia, susceptibility to}, 607278 (3), Autosomal dominant; Hepatocellular carcinoma, childhood type, somatic, 114550 (3); ?Deafness, autosomal recessive 97, 616705 (3), Autosomal recessive; Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3) |
METTL23 | chr17 | 17q25.1 | Mental retardation, autosomal recessive 44, 615942 (3), Autosomal recessive |
MFF | chr2 | 2q36.3 | Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 (3), Autosomal recessive |
MFN2 | chr1 | 1p36.2 | Hereditary motor and sensory neuropathy VIA, 601152 (3), Autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive; Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260 (3), Autosomal dominant |
MFRP | chr11 | 11q23 | Nanophthalmos 2, 609549 (3); Microphthalmia, isolated 5, 611040 (3), Autosomal recessive |
MFSD2A | chr1 | 1p34.2 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486 (3), Autosomal recessive |
MFSD8 | chr4 | 4q28.1-q28.2 | Macular dystrophy with central cone involvement, 616170 (3), Autosomal recessive; Ceroid lipofuscinosis, neuronal, 7, 610951 (3), Autosomal recessive |
MGAT2 | chr14 | 14q21 | Congenital disorder of glycosylation, type IIa, 212066 (3), Autosomal recessive |
MGME1 | chr20 | 20p11.23 | Mitochondrial DNA depletion syndrome 11, 615084 (3), Autosomal recessive |
MGP | chr12 | 12p13.1-p12.3 | Keutel syndrome, 245150 (3), Autosomal recessive |
MICU1 | chr10 | 10q22.1 | Myopathy with extrapyramidal signs, 615673 (3), Autosomal recessive |
MID1 | chrX | Xp22 | Opitz GBBB syndrome, type I, 300000 (3), X-linked recessive |
MID2 | chrX | Xq22 | ?Mental retardation, X-linked 101, 300928 (3), X-linked recessive |
MIR2861 | chr9 | 9q34.11 | [Bone mineral density QTL 15], 613418 (3), Autosomal recessive, Autosomal dominant |
MITF | chr3 | 3p14.1-p12.3 | COMMAD syndrome, 617306 (3), Autosomal recessive; {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456 (3); Waardenburg syndrome, type 2A, 193510 (3), Autosomal dominant; Waardenburg syndrome/ocular albinism, digenic, 103470 (3); Tietz albinism-deafness syndrome, 103500 (3), Autosomal dominant |
MKKS | chr20 | 20p12 | Bardet-Biedl syndrome 6, 605231 (3), Autosomal recessive; McKusick-Kaufman syndrome, 236700 (3), Autosomal recessive |
MKS1 | chr17 | 17q23 | Bardet-Biedl syndrome 13, 615990 (3), Autosomal recessive; Joubert syndrome 28, 617121 (3), Autosomal recessive; Meckel syndrome 1, 249000 (3), Autosomal recessive |
MLC1 | chr22 | 22q13.33 | Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3), Autosomal recessive |
MLH1 | chr3 | 3p21.3 | Mismatch repair cancer syndrome, 276300 (3), Autosomal recessive; Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3); Muir-Torre syndrome, 158320 (3), Autosomal dominant |
MLPH | chr2 | 2q37 | Griscelli syndrome, type 3, 609227 (3), Autosomal recessive |
MLYCD | chr16 | 16q24 | Malonyl-CoA decarboxylase deficiency, 248360 (3), Autosomal recessive |
MMAA | chr4 | 4q31.1-q31.2 | Methylmalonic aciduria, vitamin B12-responsive, 251100 (3), Autosomal recessive |
MMAB | chr12 | 12q24 | Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3), Autosomal recessive |
MMACHC | chr1 | 1p34.1 | Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3), Autosomal recessive |
MMADHC | chr2 | 2q23.2 | Homocystinuria, cblD type, variant 1, 277410 (3), Autosomal recessive; Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3), Autosomal recessive; Methylmalonic aciduria, cblD type, variant 2, 277410 (3), Autosomal recessive |
MME | chr3 | 3q21-q27 | Charcot-Marie-Tooth disease, axonal, type 2T, 617017 (3), Autosomal recessive, Autosomal dominant; ?Spinocerebellar ataxia 43, 617018 (3), Autosomal dominant |
MMP1 | chr11 | 11q22-q23 | COPD, rate of decline of lung function in, 606963 (3); {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3), Autosomal recessive |
MMP13 | chr11 | 11q22.3 | Metaphyseal dysplasia, Spahr type, 250400 (3), Autosomal recessive; Metaphyseal anadysplasia 1, 602111 (3), Autosomal dominant; Spondyloepimetaphyseal dysplasia, Missouri type, 602111 (3), Autosomal dominant |
MMP2 | chr16 | 16q13 | Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3), Autosomal recessive |
MMP20 | chr11 | 11q22.3-q23 | Amelogenesis imperfecta, type IIA2, 612529 (3), Autosomal recessive |
MMUT | chr6 | 6p21 | Methylmalonic aciduria, mut(0) type, 251000 (3), Autosomal recessive |
MOCOS | chr18 | 18q12.2 | Xanthinuria, type II, 603592 (3), Autosomal recessive |
MOCS1 | chr6 | 6p21.3 | Molybdenum cofactor deficiency A, 252150 (3), Autosomal recessive |
MOCS2 | chr5 | 5q11 | Molybdenum cofactor deficiency B, 252160 (3), Autosomal recessive |
MOGS | chr2 | 2p13.1 | Congenital disorder of glycosylation, type IIb, 606056 (3), Autosomal recessive |
MPC1 | chr6 | 6q27 | Mitochondrial pyruvate carrier deficiency, 614741 (3), Autosomal recessive |
MPDU1 | chr17 | 17p13.1-p12 | Congenital disorder of glycosylation, type If, 609180 (3), Autosomal recessive |
MPDZ | chr9 | 9p23 | Hydrocephalus, congenital, 2, with or without brain or eye anomalies, 615219 (3), Autosomal recessive |
MPI | chr15 | 15q22-qter | Congenital disorder of glycosylation, type Ib, 602579 (3), Autosomal recessive |
MPL | chr1 | 1p34 | Myelofibrosis with myeloid metaplasia, somatic, 254450 (3); Thrombocytopenia, congenital amegakaryocytic, 604498 (3), Autosomal recessive; Thrombocythemia 2, 601977 (3), Somatic mutation, Autosomal dominant |
MPLKIP | chr7 | 7p14 | Trichothiodystrophy 4, nonphotosensitive, 234050 (3), Autosomal recessive |
MPO | chr17 | 17q23.1 | {Lung cancer, protection against, in smokers} (3); Myeloperoxidase deficiency, 254600 (3), Autosomal recessive; {Alzheimer disease, susceptibility to}, 104300 (3), Autosomal dominant |
MPV17 | chr2 | 2p23-p21 | Charcot-Marie-Tooth disease, axonal, type 2EE, 618400 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3), Autosomal recessive |
MPZ | chr1 | 1q22 | Charcot-Marie-Tooth disease, type 2J, 607736 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 1B, 118200 (3), Autosomal dominant; Dejerine-Sottas disease, 145900 (3), Autosomal recessive, Autosomal dominant; Hypomyelinating neuropathy, congenital, 2, 618184 (3), Autosomal dominant; Charcot-Marie-Tooth disease, dominant intermediate D, 607791 (3), Autosomal dominant; Roussy-Levy syndrome, 180800 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 2I, 607677 (3), Autosomal dominant |
MRAP | chr21 | 21q22.1 | Glucocorticoid deficiency 2, 607398 (3), Autosomal recessive |
MRPL12 | chr17 | 17q25-qter | ?Combined oxidative phosphorylation deficiency 45, 618951 (3), Autosomal recessive |
MRPL3 | chr3 | 3q22.1 | Combined oxidative phosphorylation deficiency 9, 614582 (3), Autosomal recessive |
MRPL44 | chr2 | 2q36 | ?Combined oxidative phosphorylation deficiency 16, 615395 (3), Autosomal recessive |
MRPS16 | chr10 | 10q22.1 | Combined oxidative phosphorylation deficiency 2, 610498 (3), Autosomal recessive |
MRPS2 | chr9 | 9q34 | Combined oxidative phosphorylation deficiency 36, 617950 (3), Autosomal recessive |
MRPS22 | chr3 | 3q23 | Combined oxidative phosphorylation deficiency 5, 611719 (3), Autosomal recessive; Ovarian dysgenesis 7, 618117 (3), Autosomal recessive |
MS4A1 | chr11 | 11q13 | Immunodeficiency, common variable, 5, 613495 (3), Autosomal recessive |
MSH2 | chr2 | 2p22-p21 | Mismatch repair cancer syndrome, 276300 (3), Autosomal recessive; Muir-Torre syndrome, 158320 (3), Autosomal dominant; Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3), Autosomal dominant |
MSH3 | chr5 | 5q11-q12 | Familial adenomatous polyposis 4, 617100 (3), Autosomal recessive; Endometrial carcinoma, somatic, 608089 (3) |
MSH5 | chr6 | 6p21.33 | ?Premature ovarian failure 13, 617442 (3), Autosomal recessive |
MSH6 | chr2 | 2p16 | Mismatch repair cancer syndrome, 276300 (3), Autosomal recessive; {Endometrial cancer, familial}, 608089 (3), Somatic mutation, Autosomal dominant; Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3), Autosomal dominant |
MSMO1 | chr4 | 4q32-q34 | Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 (3), Autosomal recessive |
MSRB3 | chr12 | 12q14.3 | Deafness, autosomal recessive 74, 613718 (3), Autosomal recessive |
MT3 | chr16 | 16q13 | |
MTFMT | chr15 | 15q22.31 | Combined oxidative phosphorylation deficiency 15, 614947 (3), Autosomal recessive; Mitochondrial complex I deficiency, nuclear type 27, 618248 (3), Autosomal recessive |
MTHFD1 | chr14 | 14q24 | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive; {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3), Autosomal recessive |
MTHFR | chr1 | 1p36.3 | {Vascular disease, susceptibility to} (3); {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant; Homocystinuria due to MTHFR deficiency, 236250 (3), Autosomal recessive; {Neural tube defects, susceptibility to}, 601634 (3), Autosomal recessive; {Thromboembolism, susceptibility to}, 188050 (3), Autosomal dominant |
MTHFS | chr15 | 15q25.1 | Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 (3), Autosomal recessive |
MTM1 | chrX | Xq28 | Myotubular myopathy, X-linked, 310400 (3), X-linked recessive |
MTMR2 | chr11 | 11q22 | Charcot-Marie-Tooth disease, type 4B1, 601382 (3), Autosomal recessive |
MTO1 | chr6 | 6q13 | Combined oxidative phosphorylation deficiency 10, 614702 (3), Autosomal recessive |
MTPAP | chr10 | 10p11.23 | ?Spastic ataxia 4, autosomal recessive, 613672 (3), Autosomal recessive |
MTR | chr1 | 1q43 | {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3), Autosomal recessive; Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3), Autosomal recessive |
MTRR | chr5 | 5p15.3-p15.2 | {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3), Autosomal recessive; Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3), Autosomal recessive |
MTTP | chr4 | 4q22-q24 | Abetalipoproteinemia, 200100 (3), Autosomal recessive; {Metabolic syndrome, protection against}, 605552 (3), Autosomal dominant |
MUSK | chr9 | 9q31.3-q32 | Fetal akinesia deformation sequence 1, 208150 (3), Autosomal recessive; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3), Autosomal recessive |
MUTYH | chr1 | 1p34.3-p32.1 | Gastric cancer, somatic, 613659 (3); Adenomas, multiple colorectal, 608456 (3), Autosomal recessive |
MVK | chr12 | 12q24 | Hyper-IgD syndrome, 260920 (3), Autosomal recessive; Porokeratosis 3, multiple types, 175900 (3), Autosomal dominant; Mevalonic aciduria, 610377 (3), Autosomal recessive |
MYBPC1 | chr12 | 12q23.2 | Arthrogryposis, distal, type 1B, 614335 (3), Autosomal dominant; Myopathy, congenital, with tremor, 618524 (3), Autosomal dominant; Lethal congenital contracture syndrome 4, 614915 (3), Autosomal recessive |
MYBPC3 | chr11 | 11p11.2 | Cardiomyopathy, hypertrophic, 4, 115197 (3), Autosomal recessive, Autosomal dominant; Cardiomyopathy, dilated, 1MM, 615396 (3), Autosomal dominant; Left ventricular noncompaction 10, 615396 (3), Autosomal dominant |
MYD88 | chr3 | 3p22-p21.3 | Immunodeficiency 68, 612260 (3), Autosomal recessive; Macroglobulinemia, Waldenstrom, somatic, 153600 (3) |
MYF5 | chr12 | 12q21 | Ophthalmoplegia, external, with rib and vertebral anomalies, 618155 (3), Autosomal recessive |
MYH2 | chr17 | 17p13.1 | Proximal myopathy and ophthalmoplegia, 605637 (3), Autosomal recessive, Autosomal dominant |
MYH3 | chr17 | 17p13.1 | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, 618469 (3), Autosomal recessive; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436 (3), Autosomal dominant; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700 (3), Autosomal dominant; Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, 178110 (3), Autosomal dominant |
MYH7 | chr14 | 14q12 | Myopathy, myosin storage, autosomal recessive, 255160 (3), Autosomal recessive; Left ventricular noncompaction 5, 613426 (3), Autosomal dominant; Laing distal myopathy, 160500 (3), Autosomal dominant; Myopathy, myosin storage, autosomal dominant, 608358 (3), Autosomal dominant; Cardiomyopathy, dilated, 1S, 613426 (3), Autosomal dominant; Scapuloperoneal syndrome, myopathic type, 181430 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 1, 192600 (3), Digenic dominant, Autosomal dominant |
MYL1 | chr2 | 2q32.1-qter | Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414 (3), Autosomal recessive |
MYL3 | chr3 | 3p | Cardiomyopathy, hypertrophic, 8, 608751 (3), Autosomal recessive, Autosomal dominant |
MYLK | chr3 | 3q21 | Aortic aneurysm, familial thoracic 7, 613780 (3), Autosomal dominant; Megacystis-microcolon-intestinal hypoperistalsis syndrome, 249210 (3), Autosomal recessive |
MYO15A | chr17 | 17p11.2 | Deafness, autosomal recessive 3, 600316 (3), Autosomal recessive |
MYO18B | chr22 | 22q12.1 | Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3), Autosomal recessive |
MYO1E | chr15 | 15q21-q22 | Glomerulosclerosis, focal segmental, 6, 614131 (3), Autosomal recessive |
MYO3A | chr10 | 10p11.1 | Deafness, autosomal recessive 30, 607101 (3), Autosomal recessive |
MYO5A | chr15 | 15q21 | Griscelli syndrome, type 1, 214450 (3), Autosomal recessive |
MYO5B | chr18 | 18q21 | Microvillus inclusion disease, 251850 (3), Autosomal recessive |
MYO6 | chr6 | 6q13 | Deafness, autosomal recessive 37, 607821 (3), Autosomal recessive; Deafness, autosomal dominant 22, 606346 (3), Autosomal dominant; Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 (3), Autosomal dominant |
MYO7A | chr11 | 11q13.5 | Deafness, autosomal recessive 2, 600060 (3), Autosomal recessive; Deafness, autosomal dominant 11, 601317 (3), Autosomal dominant; Usher syndrome, type 1B, 276900 (3), Autosomal recessive |
MYPN | chr10 | 10q21.1 | Cardiomyopathy, dilated, 1KK, 615248 (3), Autosomal dominant; Cardiomyopathy, familial restrictive, 4, 615248 (3), Autosomal dominant; Nemaline myopathy 11, autosomal recessive, 617336 (3), Autosomal recessive; Cardiomyopathy, hypertrophic, 22, 615248 (3), Autosomal dominant |
NAA10 | chrX | Xq28 | Ogden syndrome, 300855 (3), X-linked dominant, X-linked recessive; Microphthalmia, syndromic 1, 309800 (3), X-linked |
NADK2 | chr5 | 5p13.2 | 2,4-dienoyl-CoA reductase deficiency, 616034 (3), Autosomal recessive |
NAGA | chr22 | 22q11 | Kanzaki disease, 609242 (3), Autosomal recessive; Schindler disease, type I, 609241 (3), Autosomal recessive; Schindler disease, type III, 609241 (3), Autosomal recessive |
NAGLU | chr17 | 17q21 | Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3), Autosomal recessive; ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 (3), Autosomal dominant |
NAGS | chr17 | 17q21.31 | N-acetylglutamate synthase deficiency, 237310 (3), Autosomal recessive |
NALCN | chr13 | 13q33.11 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 (3), Autosomal recessive; Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266 (3), Autosomal dominant |
NARS2 | chr11 | 11q14.1 | ?Deafness, autosomal recessive 94, 618434 (3), Autosomal recessive; Combined oxidative phosphorylation deficiency 24, 616239 (3), Autosomal recessive |
NAT2 | chr8 | 8p23.1-p21.3 | [Acetylation, slow], 243400 (3), Autosomal recessive |
NAT8L | chr4 | 4p16.3 | ?N-acetylaspartate deficiency, 614063 (3), Autosomal recessive |
NBAS | chr2 | 2p24-p23 | Infantile liver failure syndrome 2, 616483 (3), Autosomal recessive; Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3), Autosomal recessive |
NBEAL2 | chr3 | 3p22.1-p21.1 | Gray platelet syndrome, 139090 (3), Autosomal recessive |
NBN | chr8 | 8q21 | Leukemia, acute lymphoblastic, 613065 (3); Nijmegen breakage syndrome, 251260 (3), Autosomal recessive; Aplastic anemia, 609135 (3) |
NCAPD2 | chr12 | 12p13.31 | ?Microcephaly 21, primary, autosomal recessive, 617983 (3), Autosomal recessive |
NCAPG2 | chr7 | 7q36.3 | Khan-Khan-Katsanis syndrome, 618460 (3), Autosomal recessive |
NCF1 | chr7 | 7q11.23 | Chronic granulomatous disease 1, autosomal recessive, 233700 (3), Autosomal recessive |
NCF2 | chr1 | 1q25 | Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3), Autosomal recessive |
NCF4 | chr22 | 22q13.1 | Chronic granulomatous disease 3, autosomal recessive, 613960 (3), Autosomal recessive |
NDE1 | chr16 | 16p13.1 | Lissencephaly 4 (with microcephaly), 614019 (3), Autosomal recessive; ?Microhydranencephaly, 605013 (3), Autosomal recessive |
NDP | chrX | Xp11.4 | Exudative vitreoretinopathy 2, X-linked, 305390 (3), X-linked dominant, X-linked recessive; Norrie disease, 310600 (3), X-linked recessive |
NDRG1 | chr8 | 8q24.3 | Charcot-Marie-Tooth disease, type 4D, 601455 (3), Autosomal recessive |
NDST1 | chr5 | 5q32-q33.3 | Mental retardation, autosomal recessive 46, 616116 (3), Autosomal recessive |
NDUFA1 | chrX | Xq24 | Mitochondrial complex I deficiency, nuclear type 12, 301020 (3), X-linked recessive |
NDUFA10 | chr2 | 2q37.3 | Mitochondrial complex I deficiency, nuclear type 22, 618243 (3), Autosomal recessive |
NDUFA11 | chr19 | 19p13.3 | Mitochondrial complex I deficiency, nuclear type 14, 618236 (3), Autosomal recessive |
NDUFA12 | chr12 | 12q22 | ?Mitochondrial complex I deficiency, nuclear type 23, 618244 (3), Autosomal recessive |
NDUFA13 | chr19 | 19p13.2-p13.1 | ? Mitochondrial complex I deficiency, nuclear type 28, 618249 (3), Autosomal recessive; {Thyroid carcinoma, Hurthle cell}, 607464 (3) |
NDUFA2 | chr5 | 5q31.2 | ?Mitochondrial complex I deficiency, nuclear type 13, 618235 (3), Autosomal recessive |
NDUFA6 | chr22 | 22q13.1 | Mitochondrial complex I deficiency, nuclear type 33, 618253 (3), Autosomal recessive |
NDUFA7 | chr19 | 19p13.2 | |
NDUFA9 | chr12 | 12p | Mitochondrial complex I deficiency, nuclear type 26, 618247 (3), Autosomal recessive |
NDUFAF1 | chr15 | 15q13.3 | Mitochondrial complex I deficiency, nuclear type 11, 618234 (3), Autosomal recessive |
NDUFAF2 | chr5 | 5q12.1 | Mitochondrial complex I deficiency, nuclear type 10, 618233 (3), Autosomal recessive |
NDUFAF3 | chr3 | 3p21.31 | Mitochondrial complex I deficiency, nuclear type 18, 618240 (3), Autosomal recessive |
NDUFAF4 | chr6 | 6q16.1 | Mitochondrial complex I deficiency, nuclear type 15, 618237 (3), Autosomal recessive |
NDUFAF5 | chr20 | 20p12.1 | Mitochondrial complex I deficiency, nuclear type 16, 618238 (3), Autosomal recessive |
NDUFAF6 | chr8 | 8q22.1 | Fanconi renotubular syndrome 5, 618913 (3), Autosomal recessive; Mitochondrial complex I deficiency, nuclear type 17, 618239 (3), Autosomal recessive |
NDUFB3 | chr2 | 2q31.3 | Mitochondrial complex I deficiency, nuclear type 25, 618246 (3), Autosomal recessive |
NDUFB8 | chr10 | 10q23.2-q23.33 | Mitochondrial complex I deficiency, nuclear type 32, 618252 (3), Autosomal recessive |
NDUFB9 | chr8 | 8q13.3 | ?Mitochondrial complex I deficiency, nuclear type 24, 618245 (3), Autosomal recessive |
NDUFS1 | chr2 | 2q33-q34 | Mitochondrial complex I deficiency, nuclear type 5, 618226 (3), Autosomal recessive |
NDUFS2 | chr1 | 1q23 | Mitochondrial complex I deficiency, nuclear type 6, 618228 (3), Autosomal recessive |
NDUFS3 | chr11 | 11p11.11 | Mitochondrial complex I deficiency, nuclear type 8, 618230 (3), Autosomal recessive |
NDUFS4 | chr5 | 5q11.1 | Mitochondrial complex I deficiency, nuclear type 1, 252010 (3), Autosomal recessive |
NDUFS5 | chr1 | 1p34.2-p33 | |
NDUFS6 | chr5 | 5pter-p15.33 | Mitochondrial complex I deficiency, nuclear type 9, 618232 (3), Autosomal recessive |
NDUFS7 | chr19 | 19p13 | Mitochondrial complex I deficiency, nuclear type 3, 618224 (3), Autosomal recessive |
NDUFS8 | chr11 | 11q13 | Mitochondrial complex I deficiency, nuclear type 2, 618222 (3), Autosomal recessive |
NDUFV1 | chr11 | 11q13 | Mitochondrial complex I deficiency, nuclear type 4, 618225 (3), Autosomal recessive |
NDUFV2 | chr18 | 18p11.31-p11.2 | Mitochondrial complex I deficiency, nuclear type 7, 618229 (3), Autosomal recessive |
NEB | chr2 | 2q22 | Nemaline myopathy 2, autosomal recessive, 256030 (3), Autosomal recessive |
NECAP1 | chr12 | 12p13.31 | Epileptic encephalopathy, early infantile, 21, 615833 (3), Autosomal recessive |
NECTIN1 | chr11 | 11q23-q24 | Orofacial cleft 7, 225060 (3), Autosomal recessive; Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3), Autosomal recessive |
NECTIN4 | chr1 | 1q23.3 | Ectodermal dysplasia-syndactyly syndrome 1, 613573 (3), Autosomal recessive |
NEFH | chr22 | 22q12.2 | Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3), Autosomal dominant; ?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3), Autosomal recessive, Autosomal dominant |
NEFL | chr8 | 8p21 | Charcot-Marie-Tooth disease, type 1F, 607734 (3), Autosomal recessive, Autosomal dominant; Charcot-Marie-Tooth disease, dominant intermediate G, 617882 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 2E, 607684 (3), Autosomal dominant |
NEK1 | chr4 | 4q33 | {Amyotrophic lateral sclerosis, susceptibility to, 24}, 617892 (3), Autosomal dominant; Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3), Digenic recessive, Autosomal recessive |
NEK2 | chr1 | 1q32.2-q41 | ?Retinitis pigmentosa 67, 615565 (3), Autosomal recessive |
NEK8 | chr17 | 17q11.1 | ?Nephronophthisis 9, 613824 (3); Renal-hepatic-pancreatic dysplasia 2, 615415 (3), Autosomal recessive |
NEU1 | chr6 | 6p21.3 | Sialidosis, type II, 256550 (3), Autosomal recessive; Sialidosis, type I, 256550 (3), Autosomal recessive |
NEUROG3 | chr10 | 10q21.3 | Diarrhea 4, malabsorptive, congenital, 610370 (3), Autosomal recessive |
NFU1 | chr2 | 2p15-p13 | Multiple mitochondrial dysfunctions syndrome 1, 605711 (3), Autosomal recessive |
NGF | chr1 | 1p13.1 | Neuropathy, hereditary sensory and autonomic, type V, 608654 (3), Autosomal recessive |
NGLY1 | chr3 | 3p24 | Congenital disorder of deglycosylation, 615273 (3), Autosomal recessive |
NHEJ1 | chr2 | 2q35 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3) |
NHLRC1 | chr6 | 6p22.3 | Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3), Autosomal recessive |
NHP2 | chr5 | 5q35.3 | Dyskeratosis congenita, autosomal recessive 2, 613987 (3), Autosomal recessive |
NHS | chrX | Xp22.13 | Nance-Horan syndrome, 302350 (3), X-linked dominant; Cataract 40, X-linked, 302200 (3), X-linked |
NIN | chr14 | 14q22.1 | ?Seckel syndrome 7, 614851 (3), Autosomal recessive |
NIPAL4 | chr5 | 5q33 | Ichthyosis, congenital, autosomal recessive 6, 612281 (3), Autosomal recessive |
NKX2-6 | chr8 | 8p21.2 | Persistent truncus arteriosus, 217095 (3); Conotruncal heart malformations, 217095 (3) |
NKX3-2 | chr4 | 4p16.1 | Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3), Autosomal recessive |
NLGN4X | chrX | Xp22.33 | Mental retardation, X-linked, 300495 (3), Isolated cases, Multifactorial, X-linked; {Asperger syndrome susceptibility, X-linked 2}, 300497 (3), X-linked; {Autism susceptibility, X-linked 2}, 300495 (3), Isolated cases, Multifactorial, X-linked |
NLRP1 | chr17 | 17p13 | Palmoplantar carcinoma, multiple self-healing, 615225 (3), Autosomal dominant; Autoinflammation with arthritis and dyskeratosis, 617388 (3), Autosomal recessive, Autosomal dominant; {Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3); ?Respiratory papillomatosis, juvenile recurrent, congenital, 618803 (3), Autosomal recessive |
NLRP7 | chr19 | 19q13.4 | Hydatidiform mole, recurrent, 1, 231090 (3), Autosomal recessive |
NME8 | chr7 | 7p14.1 | Ciliary dyskinesia, primary, 6, 610852 (3), Autosomal recessive |
NMNAT1 | chr1 | 1p36.22 | Leber congenital amaurosis 9, 608553 (3), Autosomal recessive |
NNT | chr5 | 5p12 | Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3), Autosomal recessive |
NOP10 | chr15 | 15q14-q15 | Dyskeratosis congenita, autosomal recessive 1, 224230 (3), Autosomal recessive |
NPC1 | chr18 | 18q11-q12 | Niemann-Pick disease, type D, 257220 (3), Autosomal recessive; Niemann-Pick disease, type C1, 257220 (3), Autosomal recessive |
NPC2 | chr14 | 14q24.3 | Niemann-pick disease, type C2, 607625 (3), Autosomal recessive |
NPHP1 | chr2 | 2q13 | Nephronophthisis 1, juvenile, 256100 (3), Autosomal recessive; Senior-Loken syndrome-1, 266900 (3), Autosomal recessive; Joubert syndrome 4, 609583 (3), Autosomal recessive |
NPHP3 | chr3 | 3q22 | Meckel syndrome 7, 267010 (3), Autosomal recessive; Renal-hepatic-pancreatic dysplasia 1, 208540 (3), Autosomal recessive; Nephronophthisis 3, 604387 (3), Autosomal recessive |
NPHP4 | chr1 | 1p36 | Nephronophthisis 4, 606966 (3), Autosomal recessive; Senior-Loken syndrome 4, 606996 (3), Autosomal recessive |
NPHS1 | chr19 | 19q13.1 | Nephrotic syndrome, type 1, 256300 (3), Autosomal recessive |
NPHS2 | chr1 | 1q25-q31 | Nephrotic syndrome, type 2, 600995 (3), Autosomal recessive |
NPPA | chr1 | 1p36.2 | Atrial standstill 2, 615745 (3), Autosomal recessive; Atrial fibrillation, familial, 6, 612201 (3), Autosomal dominant |
NPR2 | chr9 | 9p21-p12 | Short stature with nonspecific skeletal abnormalities, 616255 (3), Autosomal dominant; Epiphyseal chondrodysplasia, Miura type, 615923 (3), Autosomal dominant; Acromesomelic dysplasia, Maroteaux type, 602875 (3), Autosomal recessive |
NR0B1 | chrX | Xp21.3-p21.2 | Adrenal hypoplasia, congenital, 300200 (3), X-linked recessive; 46XY sex reversal 2, dosage-sensitive, 300018 (3), X-linked |
NR0B2 | chr1 | 1p36.1 | Obesity, mild, early-onset, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant |
NR1H4 | chr12 | 12q23.1 | Cholestasis, progressive familial intrahepatic, 5, 617049 (3), Autosomal recessive |
NR2E3 | chr15 | 15q23 | Enhanced S-cone syndrome, 268100 (3), Autosomal recessive; Retinitis pigmentosa 37, 611131 (3), Autosomal recessive, Autosomal dominant |
NR5A1 | chr9 | 9q33 | Adrenocortical insufficiency, 612964 (3), Autosomal dominant; 46, XX sex reversal 4, 617480 (3), Autosomal dominant; Premature ovarian failure 7, 612964 (3), Autosomal dominant; Spermatogenic failure 8, 613957 (3), Autosomal dominant; 46XY sex reversal 3, 612965 (3), Autosomal dominant |
NRL | chr14 | 14q11.1-q11.2 | Retinitis pigmentosa 27, 613750 (3), Autosomal dominant; Retinal degeneration, autosomal recessive, clumped pigment type (3) |
NRXN1 | chr2 | 2p16.3 | Pitt-Hopkins-like syndrome 2, 614325 (3), Autosomal recessive; {Schizophrenia, susceptibility to, 17}, 614332 (3) |
NSD1 | chr5 | 5q35 | Sotos syndrome 1, 117550 (3), Autosomal dominant |
NSDHL | chrX | Xq28 | CHILD syndrome, 308050 (3), X-linked dominant; CK syndrome, 300831 (3), X-linked recessive |
NSMCE3 | chr15 | 15q13.1 | Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241 (3), Autosomal recessive |
NSUN2 | chr5 | 5p15.31 | Mental retardation, autosomal recessive 5, 611091 (3), Autosomal recessive |
NT5C2 | chr10 | 10q24.3 | Spastic paraplegia 45, autosomal recessive, 613162 (3), Autosomal recessive |
NT5C3A | chr7 | 7p15-p14 | Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3), Autosomal recessive |
NT5E | chr6 | 6q14-q21 | Calcification of joints and arteries, 211800 (3), Autosomal recessive |
NTHL1 | chr16 | 16p13.3-p13.2 | Familial adenomatous polyposis 3, 616415 (3), Autosomal recessive |
NTRK1 | chr1 | 1q21-q22 | Insensitivity to pain, congenital, with anhidrosis, 256800 (3), Autosomal recessive |
NUBPL | chr14 | 14q12 | Mitochondrial complex I deficiency, nuclear type 21, 618242 (3), Autosomal recessive |
NUP107 | chr12 | 12q15 | Galloway-Mowat syndrome 7, 618348 (3), Autosomal recessive; ?Ovarian dysgenesis 6, 618078 (3), Autosomal recessive; Nephrotic syndrome, type 11, 616730 (3), Autosomal recessive |
NUP155 | chr5 | 5p13 | ?Atrial fibrillation 15, 615770 (3), Autosomal recessive |
NUP214 | chr9 | 9q34.1 | Leukemia, acute myeloid, somatic, 601626 (3); {Encephalopathy, acute, infection-induced, susceptibility to, 9}, 618426 (3), Autosomal recessive; Leukemia, T-cell acute lymphoblastic, somatic, 613065 (3) |
NUP62 | chr19 | 19q13.33 | Striatonigral degeneration, infantile, 271930 (3), Autosomal recessive |
NXF5 | chrX | Xq22.1 | 0 |
NXN | chr17 | 17p13.3 | Robinow syndrome, autosomal recessive 2, 618529 (3), Autosomal recessive |
NYX | chrX | Xp11.4 | Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3), X-linked recessive |
OAT | chr10 | 10q26 | Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3), Autosomal recessive |
OBSL1 | chr2 | 2q35 | 3-M syndrome 2, 612921 (3), Autosomal recessive |
OCA2 | chr15 | 15q11.2-q12 | [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3), Autosomal recessive; [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3), Autosomal recessive; Albinism, oculocutaneous, type II, 203200 (3), Autosomal recessive; Albinism, brown oculocutaneous, 203200 (3), Autosomal recessive |
OCLN | chr5 | 5q13.1 | Pseudo-TORCH syndrome 1, 251290 (3), Autosomal recessive |
OCRL | chrX | Xq26.1 | Lowe syndrome, 309000 (3), X-linked recessive; Dent disease 2, 300555 (3), X-linked recessive |
ODAPH | chr4 | 4q21.1 | Amelogenesis imperfecta, type IIA4, 614832 (3), Autosomal recessive |
OFD1 | chrX | Xp22.3-p22.2 | Orofaciodigital syndrome I, 311200 (3), X-linked dominant; ?Retinitis pigmentosa 23, 300424 (3), X-linked recessive; Joubert syndrome 10, 300804 (3), X-linked recessive; Simpson-Golabi-Behmel syndrome, type 2, 300209 (3), X-linked recessive |
OGDH | chr7 | 7p14-p13 | Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1), Autosomal recessive |
OGT | chrX | Xq13 | Mental retardation, X-linked 106, 300997 (3), X-linked recessive |
OPA1 | chr3 | 3q28-q29 | {Glaucoma, normal tension, susceptibility to}, 606657 (3); Behr syndrome, 210000 (3), Autosomal recessive; Optic atrophy 1, 165500 (3), Autosomal dominant; Optic atrophy plus syndrome, 125250 (3), Autosomal dominant; ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (3), Autosomal recessive |
OPA3 | chr19 | 19q13.2-q13.3 | 3- methylglutaconic aciduria, type III, 258501 (3), Autosomal recessive; Optic atrophy 3 with cataract, 165300 (3), Autosomal dominant |
OPHN1 | chrX | Xq12 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3), X-linked recessive |
OPLAH | chr8 | 8q24.3 | 5-oxoprolinase deficiency, 260005 (3), Autosomal recessive, Autosomal dominant |
OPN1LW | chrX | Xq28 | Blue cone monochromacy, 303700 (3), X-linked recessive; Colorblindness, protan, 303900 (3), X-linked |
OPN1MW | chrX | Xq28 | Colorblindness, deutan, 303800 (3), X-linked; Blue cone monochromacy, 303700 (3), X-linked recessive |
ORAI1 | chr12 | 12q24 | Myopathy, tubular aggregate, 2, 615883 (3), Autosomal dominant; Immunodeficiency 9, 612782 (3), Autosomal recessive |
ORC1 | chr1 | 1p32 | Meier-Gorlin syndrome 1, 224690 (3), Autosomal recessive |
ORC4 | chr2 | 2q22-q23 | Meier-Gorlin syndrome 2, 613800 (3), Autosomal recessive |
ORC6 | chr16 | 16q12 | Meier-Gorlin syndrome 3, 613803 (3), Autosomal recessive |
OSTM1 | chr6 | 6q21 | Osteopetrosis, autosomal recessive 5, 259720 (3), Autosomal recessive |
OTC | chrX | Xp21.1 | Ornithine transcarbamylase deficiency, 311250 (3), X-linked recessive |
OTOA | chr16 | 16p12.2 | Deafness, autosomal recessive 22, 607039 (3), Autosomal recessive |
OTOF | chr2 | 2p23-p22 | Auditory neuropathy, autosomal recessive, 1, 601071 (3), Autosomal recessive; Deafness, autosomal recessive 9, 601071 (3), Autosomal recessive |
OTOG | chr11 | 11p14.3 | Deafness, autosomal recessive 18B, 614945 (3), Autosomal recessive |
OTOGL | chr12 | 12q21.31 | Deafness, autosomal recessive 84B, 614944 (3), Autosomal recessive |
OXCT1 | chr5 | 5p13 | Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3) |
P2RY12 | chr3 | 3q24-q25 | Bleeding disorder, platelet-type, 8, 609821 (3), Autosomal recessive |
P3H1 | chr1 | 1p34 | Osteogenesis imperfecta, type VIII, 610915 (3), Autosomal recessive |
P3H2 | chr3 | 3q29 | Myopia, high, with cataract and vitreoretinal degeneration, 614292 (3), Autosomal recessive |
PADI6 | chr1 | 1p36.13 | Preimplantation embryonic lethality 2, 617234 (3), Autosomal recessive |
PAH | chr12 | 12q24.1 | [Hyperphenylalaninemia, non-PKU mild], 261600 (3), Autosomal recessive; Phenylketonuria, 261600 (3), Autosomal recessive |
PAK3 | chrX | Xq23 | Mental retardation, X-linked 30/47, 300558 (3), X-linked recessive |
PAM16 | chr16 | 16p13.3 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, 613320 (3), Autosomal recessive |
PANK2 | chr20 | 20p13-p12.3 | HARP syndrome, 607236 (3), Autosomal recessive; Neurodegeneration with brain iron accumulation 1, 234200 (3), Autosomal recessive |
PAPSS2 | chr10 | 10q22-q24 | Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3), Autosomal recessive |
PARK7 | chr1 | 1p36 | Parkinson disease 7, autosomal recessive early-onset, 606324 (3), Autosomal recessive |
PARN | chr16 | 16p13.12 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371 (3), Autosomal dominant; Dyskeratosis congenita, autosomal recessive 6, 616353 (3), Autosomal recessive |
PARS2 | chr1 | 1p32.2 | Epileptic encephalopathy, early infantile, 75, 618437 (3), Autosomal recessive |
PAX1 | chr20 | 20p11.2 | Otofaciocervical syndrome 2, 615560 (3), Autosomal recessive |
PAX3 | chr2 | 2q36.1 | Craniofacial-deafness- hand syndrome, 122880 (3), Autosomal dominant; Rhabdomyosarcoma 2, alveolar, 268220 (3), Somatic mutation; Waardenburg syndrome, type 1, 193500 (3), Autosomal dominant; Waardenburg syndrome, type 3, 148820 (3), Autosomal recessive, Autosomal dominant |
PAX4 | chr7 | 7q32 | Maturity-onset diabetes of the young, type IX, 612225 (3); Diabetes mellitus, type 2, 125853 (3), Autosomal dominant; {Diabetes mellitus, ketosis-prone, susceptibility to}, 612227 (3), Autosomal recessive, Autosomal dominant |
PAX7 | chr1 | 1p36.2-p36.12 | Myopathy, congenital, progressive, with scoliosis, 618578 (3), Autosomal recessive; Rhabdomyosarcoma 2, alveolar, 268220 (3), Somatic mutation |
PC | chr11 | 11q13.4-q13.5 | Pyruvate carboxylase deficiency, 266150 (3), Autosomal recessive |
PCBD1 | chr10 | 10q22 | Hyperphenylalaninemia, BH4-deficient, D, 264070 (3), Autosomal recessive |
PCCA | chr13 | 13q32 | Propionicacidemia, 606054 (3), Autosomal recessive |
PCCB | chr3 | 3q21-q22 | Propionicacidemia, 606054 (3), Autosomal recessive |
PCDH15 | chr10 | 10q21-q22 | Usher syndrome, type 1D/F digenic, 601067 (3), Digenic recessive, Autosomal recessive; Usher syndrome, type 1F, 602083 (3), Autosomal recessive; Deafness, autosomal recessive 23, 609533 (3), Autosomal recessive |
PCDH19 | chrX | Xq22 | Epileptic encephalopathy, early infantile, 9, 300088 (3), X-linked |
PCK1 | chr20 | 20q13.31 | ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3), Autosomal recessive |
PCK2 | chr14 | 14q11.2-q12 | PEPCK deficiency, mitochondrial, 261650 (1), Autosomal recessive |
PCLO | chr7 | 7q11.23-q21.1 | ?Pontocerebellar hypoplasia, type 3, 608027 (3), Autosomal recessive |
PCNA | chr20 | 20p12 | ?Ataxia-telangiectasia-like disorder 2, 615919 (3), Autosomal recessive |
PCNT | chr21 | 21q22.3 | Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3), Autosomal recessive |
PCSK1 | chr5 | 5q15-q21 | {Obesity, susceptibility to, BMIQ12}, 612362 (3); Obesity with impaired prohormone processing, 600955 (3), Autosomal recessive |
PCYT1A | chr3 | 3q29 | Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3), Autosomal recessive |
PDE10A | chr6 | 6q27 | Dyskinesia, limb and orofacial, infantile-onset, 616921 (3), Autosomal recessive; Striatal degeneration, autosomal dominant, 616922 (3), Autosomal dominant |
PDE6A | chr5 | 5q31.2-q34 | |
PDE6B | chr4 | 4p16.3 | Night blindness, congenital stationary, autosomal dominant 2, 163500 (3), Autosomal dominant; Retinitis pigmentosa-40, 613801 (3), Autosomal recessive |
PDE6C | chr10 | 10q24 | Cone dystrophy 4, 613093 (3), Autosomal recessive |
PDE6D | chr2 | 2q36-q37 | ?Joubert syndrome 22, 615665 (3), Autosomal recessive |
PDE6G | chr17 | 17q25 | Retinitis pigmentosa 57, 613582 (3), Autosomal recessive |
PDE6H | chr12 | 12p13 | Retinal cone dystrophy 3, 610024 (3), Autosomal recessive, Autosomal dominant; Achromatopsia 6, 610024 (3), Autosomal recessive, Autosomal dominant |
PDHA1 | chrX | Xp22.2-p22.1 | Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3), X-linked dominant |
PDHB | chr3 | 3p13-q23 | |
PDHX | chr11 | 11p13 | Lacticacidemia due to PDX1 deficiency, 245349 (3), Autosomal recessive |
PDP1 | chr8 | 8q22.1 | Pyruvate dehydrogenase phosphatase deficiency, 608782 (3), Autosomal recessive |
PDSS1 | chr10 | 10p12.1 | Coenzyme Q10 deficiency, primary, 2, 614651 (3), Autosomal recessive |
PDSS2 | chr6 | 6q21 | Coenzyme Q10 deficiency, primary, 3, 614652 (3), Autosomal recessive |
PDX1 | chr13 | 13q12.1 | {Diabetes mellitus, type II, susceptibility to}, 125853 (3), Autosomal dominant; Pancreatic agenesis 1, 260370 (3), Autosomal recessive; MODY, type IV, 606392 (3) |
PDXK | chr21 | 21q22.3 | Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy, 618511 (3), Autosomal recessive |
PDZD7 | chr10 | 10q24.3 | Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3), Digenic dominant, Autosomal recessive; Deafness, autosomal recessive 57, 618003 (3), Autosomal recessive; {Retinal disease in Usher syndrome type IIA, modifier of}, 276901 (3), Autosomal recessive |
PEPD | chr19 | 19cen-q13.11 | Prolidase deficiency, 170100 (3), Autosomal recessive |
PET100 | chr19 | 19p13.2 | Mitochondrial complex IV deficiency, 220110 (3), Mitochondrial, Autosomal recessive |
PEX1 | chr7 | 7q21-q22 | Heimler syndrome 1, 234580 (3), Autosomal recessive; Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3), Autosomal recessive; Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3), Autosomal recessive |
PEX10 | chr1 | 1p36.32 | Peroxisome biogenesis disorder 6B, 614871 (3), Autosomal recessive; Peroxisome biogenesis disorder 6A (Zellweger), 614870 (3), Autosomal recessive |
PEX11B | chr1 | 1q21.1 | ?Peroxisome biogenesis disorder 14B, 614920 (3), Autosomal recessive |
PEX12 | chr17 | 17q12 | Peroxisome biogenesis disorder 3A (Zellweger), 614859 (3), Autosomal recessive; Peroxisome biogenesis disorder 3B, 266510 (3), Autosomal recessive |
PEX13 | chr2 | 2p15 | Peroxisome biogenesis disorder 11A (Zellweger), 614883 (3), Autosomal recessive; Peroxisome biogenesis disorder 11B, 614885 (3), Autosomal recessive |
PEX14 | chr1 | 1p36.2 | Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3), Autosomal recessive |
PEX16 | chr11 | 11p12-p11.2 | Peroxisome biogenesis disorder 8A (Zellweger), 614876 (3), Autosomal recessive; Peroxisome biogenesis disorder 8B, 614877 (3), Autosomal recessive |
PEX19 | chr1 | 1q22 | Peroxisome biogenesis disorder 12A (Zellweger), 614886 (3), Autosomal recessive |
PEX2 | chr8 | 8q21.1 | Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3), Autosomal recessive; Peroxisome biogenesis disorder 5B, 614867 (3), Autosomal recessive |
PEX26 | chr22 | 22q11.21 | Peroxisome biogenesis disorder 7A (Zellweger), 614872 (3), Autosomal recessive; Peroxisome biogenesis disorder 7B, 614873 (3), Autosomal recessive |
PEX3 | chr6 | 6q24.2 | Peroxisome biogenesis disorder 10A (Zellweger), 614882 (3), Autosomal recessive; ?Peroxisome biogenesis disorder 10B, 617370 (3), Autosomal recessive |
PEX5 | chr12 | 12p13.3 | Peroxisome biogenesis disorder 2B, 202370 (3), Autosomal recessive; Rhizomelic chondrodysplasia punctata, type 5, 616716 (3), Autosomal recessive; Peroxisome biogenesis disorder 2A (Zellweger), 214110 (3), Autosomal recessive |
PEX6 | chr6 | 6p21.1 | Peroxisome biogenesis disorder 4B, 614863 (3), Autosomal recessive, Autosomal dominant; Heimler syndrome 2, 616617 (3), Autosomal recessive; Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3), Autosomal recessive |
PEX7 | chr6 | 6q23.3 | Peroxisome biogenesis disorder 9B, 614879 (3), Autosomal recessive; Rhizomelic chondrodysplasia punctata, type 1, 215100 (3), Autosomal recessive |
PFKM | chr12 | 12q13.3 | Glycogen storage disease VII, 232800 (3), Autosomal recessive |
PGAM2 | chr7 | 7p13-p12.3 | Glycogen storage disease X, 261670 (3), Autosomal recessive |
PGAP1 | chr2 | 2q33.1 | Mental retardation, autosomal recessive 42, 615802 (3), Autosomal recessive |
PGAP2 | chr11 | 11p15.5 | Hyperphosphatasia with mental retardation syndrome 3, 614207 (3), Autosomal recessive |
PGAP3 | chr17 | 17q12 | Hyperphosphatasia with mental retardation syndrome 4, 615716 (3), Autosomal recessive |
PGK1 | chrX | Xq13 | Phosphoglycerate kinase 1 deficiency, 300653 (3), X-linked recessive |
PGM1 | chr1 | 1p31 | Congenital disorder of glycosylation, type It, 614921 (3), Autosomal recessive |
PGM3 | chr6 | 6q12 | Immunodeficiency 23, 615816 (3), Autosomal recessive |
PGR | chr11 | 11q22 | ?Progesterone resistance, 264080 (2), Autosomal recessive |
PHC1 | chr12 | 12p13.31 | ?Microcephaly 11, primary, autosomal recessive, 615414 (3), Autosomal recessive |
PHF6 | chrX | Xq26.3 | Borjeson-Forssman-Lehmann syndrome, 301900 (3), X-linked recessive |
PHF8 | chrX | Xp11.2 | Mental retardation syndrome, X-linked, Siderius type, 300263 (3), X-linked recessive |
PHGDH | chr1 | 1p12 | Neu-Laxova syndrome 1, 256520 (3), Autosomal recessive; Phosphoglycerate dehydrogenase deficiency, 601815 (3), Autosomal recessive |
PHKA1 | chrX | Xq13 | Muscle glycogenosis, 300559 (3), X-linked recessive |
PHKA2 | chrX | Xp22.2-p22.1 | Glycogen storage disease, type IXa2, 306000 (3), X-linked recessive; Glycogen storage disease, type IXa1, 306000 (3), X-linked recessive |
PHKB | chr16 | 16q12-q13 | Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3), Autosomal recessive |
PHKG2 | chr16 | 16p12.1-p11.2 | Glycogen storage disease IXc, 613027 (3), Autosomal recessive; Cirrhosis due to liver phosphorylase kinase deficiency (3) |
PHOX2A | chr11 | 11q13.3-q13.4 | Fibrosis of extraocular muscles, congenital, 2, 602078 (3), Autosomal recessive |
PHYH | chr10 | 10pter-p11.2 | Refsum disease, 266500 (3), Autosomal recessive |
PI4KA | chr22 | 22q11.21 | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3), Autosomal recessive |
PIBF1 | chr13 | 13q21-q22 | Joubert syndrome 33, 617767 (3), Autosomal recessive |
PIEZO1 | chr16 | 16q24.3 | Lymphatic malformation 6, 616843 (3), Autosomal recessive; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3), Autosomal dominant |
PIEZO2 | chr18 | 18p11.22 | Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3), Autosomal recessive; Arthrogryposis, distal, type 5, 108145 (3), Autosomal dominant; ?Marden-Walker syndrome, 248700 (3), Autosomal dominant; Arthrogryposis, distal, type 3, 114300 (3), Autosomal dominant |
PIGA | chrX | Xp22.1 | Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3), X-linked recessive; Paroxysmal nocturnal hemoglobinuria, somatic, 300818 (3) |
PIGL | chr17 | 17p12-p11.2 | CHIME syndrome, 280000 (3), Autosomal recessive |
PIGM | chr1 | 1q23.2 | Glycosylphosphatidylinositol deficiency, 610293 (3), Autosomal recessive |
PIGN | chr18 | 18q21.33 | Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3), Autosomal recessive |
PIGO | chr9 | 9p13 | Hyperphosphatasia with mental retardation syndrome 2, 614749 (3), Autosomal recessive |
PIGQ | chr16 | 16p13.3 | Epileptic encephalopathy, early infantile, 77, 618548 (3), Autosomal recessive |
PIGT | chr20 | 20q13.12 | Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3), Autosomal recessive; ?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3), Somatic mutation, Autosomal dominant |
PIGV | chr1 | 1p36.11 | Hyperphosphatasia with mental retardation syndrome 1, 239300 (3), Autosomal recessive |
PIGW | chr17 | 17q12 | Glycosylphosphatidylinositol biosynthesis defect 11, 616025 (3), Autosomal recessive |
PIK3R1 | chr5 | 5q13 | ?Agammaglobulinemia 7, autosomal recessive, 615214 (3), Autosomal recessive; SHORT syndrome, 269880 (3), Autosomal dominant; Immunodeficiency 36, 616005 (3), Autosomal dominant |
PIK3R5 | chr17 | 17p13.1 | Ataxia-oculomotor apraxia 3, 615217 (3), Autosomal recessive |
PINK1 | chr1 | 1p36 | Parkinson disease 6, early onset, 605909 (3), Autosomal recessive |
PIP5K1C | chr19 | 19p13.3 | Lethal congenital contractural syndrome 3, 611369 (3), Autosomal recessive |
PITX3 | chr10 | 10q25 | Anterior segment dysgenesis 1, multiple subtypes, 107250 (3), Autosomal dominant; Cataract 11, syndromic, autosomal recessive, 610623 (3), Autosomal recessive, Autosomal dominant; Cataract 11, multiple types, 610623 (3), Autosomal recessive, Autosomal dominant |
PJVK | chr2 | 2q31.2 | Deafness, autosomal recessive 59, 610220 (3), Autosomal recessive |
PKD1L1 | chr7 | 7p13-p12 | Heterotaxy, visceral, 8, autosomal, 617205 (3), Autosomal recessive |
PKHD1 | chr6 | 6p12.3-p12.2 | Polycystic kidney disease 4, with or without hepatic disease, 263200 (3), Autosomal recessive |
PKLR | chr1 | 1q21 | Pyruvate kinase deficiency, 266200 (3), Autosomal recessive; Adenosine triphosphate, elevated, of erythrocytes, 102900 (3), Autosomal dominant |
PKP1 | chr1 | 1q32 | Ectodermal dysplasia/skin fragility syndrome, 604536 (3), Autosomal recessive |
PLA2G4A | chr1 | 1q25 | Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 (3), Autosomal recessive |
PLA2G5 | chr1 | 1p36-p34 | [Fleck retina, familial benign], 228980 (3), Autosomal recessive |
PLA2G6 | chr22 | 22q13.1 | Infantile neuroaxonal dystrophy 1, 256600 (3), Autosomal recessive; Parkinson disease 14, autosomal recessive, 612953 (3), Autosomal recessive; Neurodegeneration with brain iron accumulation 2B, 610217 (3), Autosomal recessive |
PLA2G7 | chr6 | 6p21.2-p12 | {Asthma, susceptibility to}, 600807 (3), Autosomal dominant; Platelet-activating factor acetylhydrolase deficiency, 614278 (3), Autosomal recessive; {Atopy, susceptibility to}, 147050 (3), Autosomal dominant |
PLCB1 | chr20 | 20p12 | Epileptic encephalopathy, early infantile, 12, 613722 (3), Autosomal recessive |
PLCB4 | chr20 | 20p12 | Auriculocondylar syndrome 2, 614669 (3), Autosomal recessive, Autosomal dominant |
PLCD1 | chr3 | 3p22-p21.3 | Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (3), Autosomal recessive, Autosomal dominant |
PLCE1 | chr10 | 10q23 | Nephrotic syndrome, type 3, 610725 (3), Autosomal recessive |
PLCZ1 | chr12 | 12p12.3 | ?Spermatogenic failure 17, 617214 (3), Autosomal recessive |
PLEC | chr8 | 8q24 | Muscular dystrophy, limb-girdle, autosomal recessive 17, 613723 (3), Autosomal recessive; Epidermolysis bullosa simplex with pyloric atresia, 612138 (3), Autosomal recessive; Epidermolysis bullosa simplex with muscular dystrophy, 226670 (3), Autosomal recessive; ?Epidermolysis bullosa simplex with nail dystrophy, 616487 (3), Autosomal recessive; Epidermolysis bullosa simplex, Ogna type, 131950 (3), Autosomal dominant |
PLEKHG5 | chr1 | 1p36 | Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3), Autosomal recessive; Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3), Autosomal recessive |
PLEKHM1 | chr17 | 17q21.3 | Osteopetrosis, autosomal dominant 3, 618107 (3), Autosomal dominant; ?Osteopetrosis, autosomal recessive 6, 611497 (3), Autosomal recessive |
PLG | chr6 | 6q26 | Dysplasminogenemia, 217090 (3), Autosomal recessive; Plasminogen deficiency, type I, 217090 (3), Autosomal recessive |
PLK4 | chr4 | 4q27-q28 | Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3), Autosomal recessive |
PLOD1 | chr1 | 1p36.3-p36.2 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400 (3), Autosomal recessive |
PLOD2 | chr3 | 3q23-q24 | Bruck syndrome 2, 609220 (3), Autosomal recessive |
PLOD3 | chr7 | 7q22 | Lysyl hydroxylase 3 deficiency, 612394 (3), Autosomal recessive |
PLP1 | chrX | Xq22 | Pelizaeus-Merzbacher disease, 312080 (3), X-linked recessive; Spastic paraplegia 2, X-linked, 312920 (3), X-linked recessive |
PMM2 | chr16 | 16p13.3-p13.2 | Congenital disorder of glycosylation, type Ia, 212065 (3), Autosomal recessive |
PMP22 | chr17 | 17p11.2 | Dejerine-Sottas disease, 145900 (3), Autosomal recessive, Autosomal dominant; ?Neuropathy, inflammatory demyelinating, 139393 (3), ?Autosomal dominant; Charcot-Marie-Tooth disease, type 1E, 118300 (3), Autosomal dominant; Roussy-Levy syndrome, 180800 (3), Autosomal dominant; Neuropathy, recurrent, with pressure palsies, 162500 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 1A, 118220 (3), Autosomal dominant |
PMPCA | chr9 | 9q34.3 | Spinocerebellar ataxia, autosomal recessive 2, 213200 (3), Autosomal recessive |
PMS2 | chr7 | 7p22 | Mismatch repair cancer syndrome, 276300 (3), Autosomal recessive; Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3) |
PNKP | chr19 | 19q13.4 | Microcephaly, seizures, and developmental delay, 613402 (3), Autosomal recessive; Ataxia-oculomotor apraxia 4, 616267 (3), Autosomal recessive; ?Charcot-Marie-Tooth disease, type 2B2, 605589 (3), Autosomal recessive |
PNLIP | chr10 | 10q26.1 | ?Pancreatic lipase deficiency, 614338 (3), Autosomal recessive |
PNP | chr14 | 14q13.1 | Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3), Autosomal recessive |
PNPLA1 | chr6 | 6p21.31 | Ichthyosis, congenital, autosomal recessive 10, 615024 (3), Autosomal recessive |
PNPLA2 | chr11 | 11p15.5 | Neutral lipid storage disease with myopathy, 610717 (3), Autosomal recessive |
PNPLA6 | chr19 | 19p13.3 | Spastic paraplegia 39, autosomal recessive, 612020 (3), Autosomal recessive; Boucher-Neuhauser syndrome, 215470 (3), Autosomal recessive; Oliver-McFarlane syndrome, 275400 (3), Autosomal recessive; ?Laurence-Moon syndrome, 245800 (3), Autosomal recessive |
PNPO | chr17 | 17q21.32 | Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3), Autosomal recessive |
PNPT1 | chr2 | 2p16.1 | Deafness, autosomal recessive 70, 614934 (3), Autosomal recessive; Combined oxidative phosphorylation deficiency 13, 614932 (3), Autosomal recessive |
POC1A | chr3 | 3p21.2 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3), Autosomal recessive |
POC1B | chr12 | 12q21.33 | Cone-rod dystrophy 20, 615973 (3), Autosomal recessive |
POF1B | chrX | Xq21 | ?Premature ovarian failure 2B, 300604 (3), X-linked recessive |
POGLUT1 | chr3 | 3q13.33 | ?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232 (3), Autosomal recessive; Dowling-Degos disease 4, 615696 (3), Autosomal dominant |
POLA1 | chrX | Xp22.3-p21.1 | Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3), X-linked recessive; Van Esch-O'Driscoll syndrome, 301030 (3), X-linked recessive |
POLE | chr12 | 12q24.3 | FILS syndrome, 615139 (3), Autosomal recessive; IMAGE-I syndrome, 618336 (3), Autosomal recessive; {Colorectal cancer, susceptibility to, 12}, 615083 (3), Autosomal dominant |
POLG | chr15 | 15q25 | Progressive external ophthalmoplegia, autosomal dominant 1, 157640 (3), Autosomal dominant; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3), Autosomal recessive; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3), Autosomal recessive; Progressive external ophthalmoplegia, autosomal recessive 1, 258450 (3), Autosomal recessive |
POLG2 | chr17 | 17q23-q24 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3), Autosomal dominant; Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528 (3), Autosomal recessive |
POLH | chr6 | 6p21.1-p12 | Xeroderma pigmentosum, variant type, 278750 (3), Autosomal recessive |
POLR1C | chr6 | 6p22.3 | Treacher Collins syndrome 3, 248390 (3), Autosomal recessive; Leukodystrophy, hypomyelinating, 11, 616494 (3), Autosomal recessive |
POLR1D | chr13 | 13q12.2 | Treacher Collins syndrome 2, 613717 (3), Autosomal recessive, Autosomal dominant |
POLR3A | chr10 | 10q22.3 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3), Autosomal recessive; Wiedemann-Rautenstrauch syndrome, 264090 (3), Autosomal recessive |
POLR3B | chr12 | 12q23.3 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3), Autosomal recessive |
POMC | chr2 | 2p23.3 | {Obesity, early-onset, susceptibility to}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant; Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3), Autosomal recessive |
POMGNT1 | chr1 | 1p34-p33 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3), Autosomal recessive; Retinitis pigmentosa 76, 617123 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3), Autosomal recessive |
POMGNT2 | chr3 | 3p22.1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135 (3), Autosomal recessive |
POMK | chr8 | 8p11 | ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3), Autosomal recessive |
POMP | chr13 | 13q12.3 | Proteasome-associated autoinflammatory syndrome 2, 618048 (3), Autosomal dominant; Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3), Autosomal recessive |
POMT1 | chr9 | 9q34.1 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3), Autosomal recessive |
POMT2 | chr14 | 14q24.3 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3), Autosomal recessive |
POP1 | chr8 | 8q22 | Anauxetic dysplasia 2, 617396 (3), Autosomal recessive |
POR | chr7 | 7q11.2 | Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3); Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3), Autosomal recessive |
POU1F1 | chr3 | 3p11 | Pituitary hormone deficiency, combined, 1, 613038 (3), Autosomal recessive, Autosomal dominant |
POU3F4 | chrX | Xq21.1 | Deafness, X-linked 2, 304400 (3), X-linked recessive |
PPARG | chr3 | 3p25 | [Obesity, resistance to] (3); Carotid intimal medial thickness 1, 609338 (3); {Diabetes, type 2}, 125853 (3), Autosomal dominant; Insulin resistance, severe, digenic, 604367 (3), Autosomal dominant; Obesity, severe, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant; Lipodystrophy, familial partial, type 3, 604367 (3), Autosomal dominant |
PPIB | chr15 | 15q21-q22 | Osteogenesis imperfecta, type IX, 259440 (3), Autosomal recessive |
PPP1R15B | chr1 | 1q32.1 | Microcephaly, short stature, and impaired glucose metabolism 2, 616817 (3), Autosomal recessive |
PPT1 | chr1 | 1p32 | Ceroid lipofuscinosis, neuronal, 1, 256730 (3), Autosomal recessive |
PQBP1 | chrX | Xp11.23 | Renpenning syndrome, 309500 (3), X-linked recessive |
PRCD | chr17 | 17q25.1 | Retinitis pigmentosa 36, 610599 (3) |
PRDM5 | chr4 | 4q27 | Brittle cornea syndrome 2, 614170 (3), Autosomal recessive |
PREPL | chr2 | 2p21 | Myasthenic syndrome, congenital, 22, 616224 (3), Autosomal recessive |
PRF1 | chr10 | 10q22 | Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3), Autosomal recessive; Aplastic anemia, 609135 (3); Lymphoma, non-Hodgkin, 605027 (3) |
PRG4 | chr1 | 1q24-q25 | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3), Autosomal recessive |
PRICKLE1 | chr12 | 12q12 | Epilepsy, progressive myoclonic 1B, 612437 (3), Autosomal recessive |
PRKACG | chr9 | 9q21.11 | ?Bleeding disorder, platelet-type, 19, 616176 (3), Autosomal recessive |
PRKCD | chr3 | 3p | Autoimmune lymphoproliferative syndrome, type III, 615559 (3), Autosomal recessive |
PRKDC | chr8 | 8q11 | Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3), Autosomal recessive |
PRKN | chr6 | 6q25.2-q27 | Parkinson disease, juvenile, type 2, 600116 (3), Autosomal recessive; Ovarian cancer, somatic, 167000 (3); Adenocarcinoma of lung, somatic, 211980 (3) |
PRKRA | chr2 | 2q31.3 | Dystonia 16, 612067 (3), Autosomal recessive |
PRLR | chr5 | 5p13.2 | Hyperprolactinemia, 615555 (3), Autosomal recessive, Autosomal dominant; Multiple fibroadenomas of the breast, 615554 (3), Autosomal dominant |
PRMT7 | chr16 | 16q22.1 | Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157 (3), Autosomal recessive |
PROC | chr2 | 2q13-q14 | Thrombophilia due to protein C deficiency, autosomal dominant, 176860 (3), Autosomal dominant; Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3), Autosomal recessive |
PRODH | chr22 | 22q11.2 | Hyperprolinemia, type I, 239500 (3), Autosomal recessive; {Schizophrenia, susceptibility to, 4}, 600850 (3), Autosomal dominant |
PROM1 | chr4 | 4p15.3 | Retinitis pigmentosa 41, 612095 (3), Autosomal recessive; Stargardt disease 4, 603786 (3), Autosomal dominant; Cone-rod dystrophy 12, 612657 (3), Autosomal recessive, Autosomal dominant; Macular dystrophy, retinal, 2, 608051 (3), Autosomal dominant |
PROP1 | chr5 | 5q | Pituitary hormone deficiency, combined, 2, 262600 (3), Autosomal recessive |
PROS1 | chr3 | 3q11.2 | Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3), Autosomal recessive; Thrombophilia due to protein S deficiency, autosomal dominant, 612336 (3), Autosomal dominant |
PRPH | chr12 | 12q12-q13 | {Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3), Autosomal recessive, Autosomal dominant |
PRPH2 | chr6 | 6p21.1-cen | Macular dystrophy, patterned, 1, 169150 (3), Autosomal dominant; Retinitis punctata albescens, 136880 (3), Autosomal recessive, Autosomal dominant; Choroidal dystrophy, central areolar 2, 613105 (3), Autosomal dominant; Retinitis pigmentosa 7 and digenic form, 608133 (3), Autosomal recessive, Autosomal dominant; Leber congenital amaurosis 18, 608133 (3), Autosomal recessive, Autosomal dominant; Macular dystrophy, vitelliform, 3, 608161 (3), Autosomal dominant |
PRPS1 | chrX | Xq22-q24 | Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 (3), X-linked recessive; Phosphoribosylpyrophosphate synthetase superactivity, 300661 (3), X-linked recessive; Deafness, X-linked 1, 304500 (3), X-linked; Arts syndrome, 301835 (3), X-linked recessive; Gout, PRPS-related, 300661 (3), X-linked recessive |
PRRX1 | chr1 | 1q24 | Agnathia-otocephaly complex, 202650 (3), Autosomal recessive, Autosomal dominant |
PRSS12 | chr4 | 4q25-q26 | Mental retardation, autosomal recessive 1, 249500 (3), Autosomal recessive |
PRSS56 | chr2 | 2q37.1 | Microphthalmia, isolated 6, 613517 (3), Autosomal recessive |
PRX | chr19 | 19q13.1-q13.2 | Charcot-Marie- Tooth disease, type 4F, 614895 (3), Autosomal recessive; Dejerine-Sottas disease, 145900 (3), Autosomal recessive, Autosomal dominant |
PSAP | chr10 | 10q22.1 | Gaucher disease, atypical, 610539 (3); Krabbe disease, atypical, 611722 (3), Autosomal recessive; Combined SAP deficiency, 611721 (3), Autosomal recessive; Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3), Autosomal recessive |
PSAT1 | chr9 | 9q21.31 | Neu-Laxova syndrome 2, 616038 (3), Autosomal recessive; ?Phosphoserine aminotransferase deficiency, 610992 (3), Autosomal recessive |
PSMB8 | chr6 | 6p21.3 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040 (3), Autosomal recessive |
PSMB9 | chr6 | 6p21.3 | ?Proteasome-associated autoinflammatory syndrome 3, digenic, 617591 (3), Autosomal recessive |
PSMC3IP | chr17 | 17q21.2 | Ovarian dysgenesis 3, 614324 (3), Autosomal recessive |
PSPH | chr7 | 7p11.2 | Phosphoserine phosphatase deficiency, 614023 (3), Autosomal recessive |
PTCHD1 | chrX | Xp22.11 | {Autism, susceptibility to, X-linked 4}, 300830 (3), X-linked recessive |
PTEN | chr10 | 10q23.31 | Prostate cancer, somatic, 176807 (3); {Glioma susceptibility 2}, 613028 (3); Cowden syndrome 1, 158350 (3), Autosomal dominant; Lhermitte-Duclos syndrome, 158350 (3), Autosomal dominant; Macrocephaly/autism syndrome, 605309 (3), Autosomal dominant; {Meningioma}, 607174 (3), Autosomal dominant |
PTF1A | chr10 | 10p12.3 | Pancreatic and cerebellar agenesis, 609069 (3), Autosomal recessive; Pancreatic agenesis 2, 615935 (3), Autosomal recessive |
PTGER2 | chr14 | 14q22 | {Asthma, aspirin-induced, susceptibility to}, 208550 (3), Autosomal recessive |
PTH | chr11 | 11p15.3-p15.1 | Hypoparathyroidism, familial isolated 1, 146200 (3), Autosomal recessive, Autosomal dominant |
PTH1R | chr3 | 3p22-p21.1 | Metaphyseal chondrodysplasia, Murk Jansen type, 156400 (3), Autosomal dominant; Failure of tooth eruption, primary, 125350 (3), Autosomal dominant; Eiken syndrome, 600002 (3), Autosomal recessive; Chondrodysplasia, Blomstrand type, 215045 (3), Autosomal recessive |
PTPN14 | chr1 | 1q32 | Choanal atresia and lymphedema, 613611 (3), Autosomal recessive |
PTPN22 | chr1 | 1p13 | {Diabetes, type 1, susceptibility to}, 222100 (3), Autosomal recessive; {Systemic lupus erythematosus susceptibility to}, 152700 (3), Autosomal dominant; {Rheumatoid arthritis, susceptibility to}, 180300 (3) |
PTPN23 | chr3 | 3p21.3 | Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, 618890 (3), Autosomal recessive |
PTPRC | chr1 | 1q31-q32 | {Hepatitis C virus, susceptibility to}, 609532 (3); Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3), Autosomal recessive |
PTPRF | chr1 | 1p32 | ?Breasts and/or nipples, aplasia or hypoplasia of, 2, 616001 (3), Autosomal recessive |
PTPRO | chr12 | 12p13-p12 | Nephrotic syndrome, type 6, 614196 (3), Autosomal recessive |
PTPRQ | chr12 | 12q21.2 | Deafness, autosomal dominant 73, 617663 (3), Autosomal dominant; Deafness, autosomal recessive 84A, 613391 (3), Autosomal recessive |
PTRH2 | chr17 | 17q23.1 | Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263 (3), Autosomal recessive |
PTS | chr11 | 11q22.3-q23.3 | Hyperphenylalaninemia, BH4-deficient, A, 261640 (3), Autosomal recessive |
PUS1 | chr12 | 12q24.33 | Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 (3), Autosomal recessive |
PXDN | chr2 | 2p25.3 | Anterior segment dysgenesis 7, with sclerocornea, 269400 (3), Autosomal recessive |
PYCR1 | chr17 | 17q25.3 | Cutis laxa, autosomal recessive, type IIIB, 614438 (3); Cutis laxa, autosomal recessive, type IIB, 612940 (3), Autosomal recessive |
PYCR2 | chr1 | 1q42.13 | Leukodystrophy, hypomyelinating, 10, 616420 (3), Autosomal recessive |
PYGL | chr14 | 14q22.1 | Glycogen storage disease VI, 232700 (3), Autosomal recessive |
PYGM | chr11 | 11q13 | McArdle disease, 232600 (3), Autosomal recessive |
QDPR | chr4 | 4p15.31 | Hyperphenylalaninemia, BH4-deficient, C, 261630 (3), Autosomal recessive |
RAB18 | chr10 | 10p12.1 | Warburg micro syndrome 3, 614222 (3), Autosomal recessive |
RAB23 | chr6 | 6p11 | Carpenter syndrome, 201000 (3), Autosomal recessive |
RAB27A | chr15 | 15q21 | Griscelli syndrome, type 2, 607624 (3), Autosomal recessive |
RAB28 | chr4 | 4p15.33 | Cone-rod dystrophy 18, 615374 (3), Autosomal recessive |
RAB33B | chr4 | 4q31.1 | Smith-McCort dysplasia 2, 615222 (3), Autosomal recessive |
RAB39B | chrX | Xq28 | Waisman syndrome, 311510 (3), X-linked recessive; Mental retardation, X-linked 72, 300271 (3), X-linked recessive |
RAB3GAP1 | chr2 | 2q21.3 | Warburg micro syndrome 1, 600118 (3), Autosomal recessive |
RAB3GAP2 | chr1 | 1q41 | Warburg micro syndrome 2, 614225 (3), Autosomal recessive; Martsolf syndrome, 212720 (3), Autosomal recessive |
RAD21 | chr8 | 8q24 | ?Mungan syndrome, 611376 (3), Autosomal recessive; Cornelia de Lange syndrome 4, 614701 (3), Autosomal dominant |
RAD51C | chr17 | 17q22 | {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399 (3); Fanconi anemia, complementation group O, 613390 (3), Autosomal recessive |
RAG1 | chr11 | 11p13 | Omenn syndrome, 603554 (3), Autosomal recessive; Severe combined immunodeficiency, B cell-negative, 601457 (3), Autosomal recessive; Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3); Combined cellular and humoral immune defects with granulomas, 233650 (3), Autosomal recessive |
RAG2 | chr11 | 11p13 | Severe combined immunodeficiency, B cell-negative, 601457 (3), Autosomal recessive; Combined cellular and humoral immune defects with granulomas, 233650 (3), Autosomal recessive; Omenn syndrome, 603554 (3), Autosomal recessive |
RALGAPA1 | chr14 | 14q13.2 | Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation, 618797 (3), Autosomal recessive |
RAPSN | chr11 | 11p11.2-p11.1 | Fetal akinesia deformation sequence 2, 618388 (3), Autosomal recessive; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3), Autosomal recessive |
RARB | chr3 | 3p24 | Microphthalmia, syndromic 12, 615524 (3), Autosomal recessive, Autosomal dominant |
RARS2 | chr6 | 6q16.1 | Pontocerebellar hypoplasia, type 6, 611523 (3), Autosomal recessive |
RASGRP1 | chr15 | 15q15 | Immunodeficiency 64, 618534 (3), Autosomal recessive |
RASGRP2 | chr11 | 11q13 | ?Bleeding disorder, platelet-type, 18, 615888 (3), Autosomal recessive |
RAX | chr18 | 18q21.3 | Microphthalmia, isolated 3, 611038 (3), Autosomal recessive |
RBBP8 | chr18 | 18q11.2 | Jawad syndrome, 251255 (3), Autosomal recessive; Pancreatic carcinoma, somatic (3); Seckel syndrome 2, 606744 (3), Autosomal recessive |
RBCK1 | chr20 | 20p13 | Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3), Autosomal recessive |
RBM10 | chrX | Xp11.23 | TARP syndrome, 311900 (3), X-linked recessive |
RBM28 | chr7 | 7q32.1 | ?Alopecia, neurologic defects, and endocrinopathy syndrome, 612079 (3), Autosomal recessive |
RBM8A | chr1 | 1q12 | Thrombocytopenia-absent radius syndrome, 274000 (3), Autosomal recessive |
RBP3 | chr10 | 10q11.2 | ?Retinitis pigmentosa 66, 615233 (3), Autosomal recessive |
RBP4 | chr10 | 10q24 | Microphthalmia, isolated, with coloboma 10, 616428 (3), Autosomal dominant; Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 (3), Autosomal recessive |
RCBTB1 | chr13 | 13q14 | Retinal dystrophy with or without extraocular anomalies, 617175 (3), Autosomal recessive |
RD3 | chr1 | 1q32.3 | Leber congenital amaurosis 12, 610612 (3), Autosomal recessive |
RDH11 | chr14 | 14q23.3 | ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, 616108 (3), Autosomal recessive |
RDH12 | chr14 | 14q23.3 | Leber congenital amaurosis 13, 612712 (3), Autosomal recessive, Autosomal dominant |
RDH5 | chr12 | 12q13-q14 | Fundus albipunctatus, 136880 (3), Autosomal recessive, Autosomal dominant |
RDX | chr11 | 11q23 | Deafness, autosomal recessive 24, 611022 (3), Autosomal recessive |
RECQL4 | chr8 | 8q24.3 | RAPADILINO syndrome, 266280 (3), Autosomal recessive; Baller-Gerold syndrome, 218600 (3), Autosomal recessive; Rothmund-Thomson syndrome, type 2,, 268400 (3), Autosomal recessive |
REEP2 | chr5 | 5q31 | ?Spastic paraplegia 72, autosomal dominant, 615625 (3), Autosomal recessive, Autosomal dominant; ?Spastic paraplegia 72, autosomal recessive, 615625 (3), Autosomal recessive, Autosomal dominant |
RELN | chr7 | 7q22 | {Epilepsy, familial temporal lobe, 7}, 616436 (3), Autosomal dominant; Lissencephaly 2 (Norman-Roberts type), 257320 (3), Autosomal recessive |
REN | chr1 | 1q32 | [Hyperproreninemia] (3); Renal tubular dysgenesis, 267430 (3), Autosomal recessive; Hyperuricemic nephropathy, familial juvenile 2, 613092 (3), Autosomal dominant |
RETREG1 | chr5 | 5p15.1 | Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3), Autosomal recessive |
RFC1 | chr4 | 4p14-p13 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, 614575 (3), Autosomal recessive |
RFT1 | chr3 | 3p21.1 | Congenital disorder of glycosylation, type In, 612015 (3), Autosomal recessive |
RFX5 | chr1 | 1q21.1-q21.3 | Bare lymphocyte syndrome, type II, complementation group C, 209920 (3), Autosomal recessive; Bare lymphocyte syndrome, type II, complementation group E, 209920 (3), Autosomal recessive |
RFX6 | chr6 | 6q22.2 | Mitchell-Riley syndrome, 615710 (3), Autosomal recessive |
RFXANK | chr19 | 19p12 | MHC class II deficiency, complementation group B, 209920 (3), Autosomal recessive |
RFXAP | chr13 | 13q14 | Bare lymphocyte syndrome, type II, complementation group D, 209920 (3), Autosomal recessive |
RGR | chr10 | 10q23 | Retinitis pigmentosa 44, 613769 (3) |
RHO | chr3 | 3q21-q24 | Night blindness, congenital stationary, autosomal dominant 1, 610445 (3); Retinitis punctata albescens, 136880 (3), Autosomal recessive, Autosomal dominant; Retinitis pigmentosa 4, autosomal dominant or recessive, 613731 (3), Autosomal recessive, Autosomal dominant |
RHOH | chr4 | 4p13 | {?Epidermodysplasia verruciformis, susceptibility to, 4}, 618307 (3), Autosomal recessive |
RIC1 | chr9 | 9p24.1 | CATIFA syndrome, 618761 (3), Autosomal recessive |
RIMS2 | chr8 | 8q22.3 | Cone-rod synaptic disorder syndrome, congenital nonprogressive, 618970 (3), Autosomal recessive |
RIN2 | chr20 | 20p11.22 | Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3), Autosomal recessive |
RINT1 | chr7 | 7q22.3 | Infantile liver failure syndrome 3, 618641 (3), Autosomal recessive |
RIPK4 | chr21 | 21q22.3 | Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 (3), Autosomal recessive; CHAND syndrome, 214350 (3), Autosomal recessive |
RIPOR2 | chr6 | 6p22.3-p21.32 | ?Deafness, autosomal recessive 104, 616515 (3), Autosomal recessive |
RLBP1 | chr15 | 15q26 | Retinitis punctata albescens, 136880 (3), Autosomal recessive, Autosomal dominant; Bothnia retinal dystrophy, 607475 (3), Autosomal recessive; Newfoundland rod-cone dystrophy, 607476 (3); Fundus albipunctatus, 136880 (3), Autosomal recessive, Autosomal dominant |
RMND1 | chr6 | 6q25 | Combined oxidative phosphorylation deficiency 11, 614922 (3), Autosomal recessive |
RMRP | chr9 | 9p21-p12 | Anauxetic dysplasia 1, 607095 (3), Autosomal recessive; Cartilage-hair hypoplasia, 250250 (3), Autosomal recessive; Metaphyseal dysplasia without hypotrichosis, 250460 (3), Autosomal recessive |
RNASEH2A | chr19 | 19p13.13 | Aicardi-Goutieres syndrome 4, 610333 (3), Autosomal recessive |
RNASEH2B | chr13 | 13q14.1 | Aicardi-Goutieres syndrome 2, 610181 (3), Autosomal recessive |
RNASEH2C | chr11 | 11q13.2 | Aicardi-Goutieres syndrome 3, 610329 (3), Autosomal recessive |
RNASET2 | chr6 | 6q27 | Leukoencephalopathy, cystic, without megalencephaly, 612951 (3), Autosomal recessive |
RNF168 | chr3 | 3q29 | RIDDLE syndrome, 611943 (3), Autosomal recessive |
RNF216 | chr7 | 7p22 | Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 (3), Autosomal recessive |
RNU4ATAC | chr2 | 2q14.2 | Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3), Autosomal recessive; Roifman syndrome, 616651 (3), Autosomal recessive |
ROBO3 | chr11 | 11q23-q25 | Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3), Autosomal recessive |
ROGDI | chr16 | 16p13.3 | Kohlschutter-Tonz syndrome, 226750 (3), Autosomal recessive |
ROM1 | chr11 | 11q13 | Retinitis pigmentosa 7, digenic form, 608133 (3), Autosomal recessive, Autosomal dominant |
ROR2 | chr9 | 9q22 | Brachydactyly, type B1, 113000 (3), Autosomal dominant; Robinow syndrome, autosomal recessive, 268310 (3), Autosomal recessive |
RORC | chr1 | 1q21 | Immunodeficiency 42, 616622 (3), Autosomal recessive |
RP1 | chr8 | 8q11-q13 | Retinitis pigmentosa 1, 180100 (3), Autosomal recessive, Autosomal dominant |
RP1L1 | chr8 | 8p23 | Retinitis pigmentosa 88, 618826 (3), Autosomal recessive; Occult macular dystrophy, 613587 (3), Autosomal dominant |
RPE65 | chr1 | 1p31 | Leber congenital amaurosis 2, 204100 (3), Autosomal recessive; Retinitis pigmentosa 87 with choroidal involvement, 618697 (3), Autosomal dominant; Retinitis pigmentosa 20, 613794 (3), Autosomal recessive |
RPGR | chrX | Xp11.4 | Cone-rod dystrophy, X-linked, 1, 304020 (3), X-linked; Retinitis pigmentosa 3, 300029 (3); Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3); Macular degeneration, X-linked atrophic, 300834 (3), X-linked recessive |
RPGRIP1 | chr14 | 14q11 | Cone-rod dystrophy 13, 608194 (3); Leber congenital amaurosis 6, 613826 (3), Autosomal recessive |
RPGRIP1L | chr16 | 16q12.2 | COACH syndrome, 216360 (3), Autosomal recessive; Meckel syndrome 5, 611561 (3), Autosomal recessive; Joubert syndrome 7, 611560 (3), Autosomal recessive |
RPIA | chr2 | 2p11.2 | Ribose 5-phosphate isomerase deficiency, 608611 (3), Autosomal recessive |
RPL10 | chrX | Xq28 | Mental retardation, X-linked, syndromic, 35, 300998 (3), X-linked recessive; {Autism, susceptibility to, X-linked 5}, 300847 (3) |
RPS6KA3 | chrX | Xp22.2-p22.1 | Mental retardation, X-linked 19, 300844 (3), X-linked dominant; Coffin-Lowry syndrome, 303600 (3), X-linked dominant |
RRM2B | chr8 | 8q23.1 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (3), Autosomal dominant; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3), Autosomal recessive |
RS1 | chrX | Xp22.2-p22.1 | Retinoschisis, 312700 (3), X-linked recessive |
RSPH1 | chr21 | 21q22.3 | Ciliary dyskinesia, primary, 24, 615481 (3), Autosomal recessive |
RSPH4A | chr6 | 6q22.1 | Ciliary dyskinesia, primary, 11, 612649 (3) |
RSPH9 | chr6 | 6p21.1 | Ciliary dyskinesia, primary, 12, 612650 (3) |
RSPO1 | chr1 | 1p34.3 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644 (3), Autosomal recessive; Palmoplantar hyperkeratosis and true hermaphroditism, 610644 (3), Autosomal recessive |
RSPO4 | chr20 | 20p13 | Anonychia congenita, 206800 (3), Autosomal recessive |
RSRC1 | chr3 | 3q25.32 | Intellectual developmental disorder, autosomal recessive 70, 618402 (3), Autosomal recessive |
RTEL1 | chr20 | 20q13.3 | Dyskeratosis congenita, autosomal recessive 5, 615190 (3), Autosomal recessive, Autosomal dominant; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 (3), Autosomal dominant; Dyskeratosis congenita, autosomal dominant 4, 615190 (3), Autosomal recessive, Autosomal dominant |
RTTN | chr18 | 18q22.2 | Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3), Autosomal recessive |
RUBCN | chr3 | 3q29 | ?Spinocerebellar ataxia, autosomal recessive 15, 615705 (3), Autosomal recessive |
RYR1 | chr19 | 19q13.1 | Central core disease, 117000 (3), Autosomal recessive, Autosomal dominant; King-Denborough syndrome, 145600 (3), Autosomal dominant; {Malignant hyperthermia susceptibility 1}, 145600 (3), Autosomal dominant; Minicore myopathy with external ophthalmoplegia, 255320 (3), Autosomal recessive; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3), Autosomal recessive, Autosomal dominant |
SACS | chr13 | 13q12 | Spastic ataxia, Charlevoix-Saguenay type, 270550 (3), Autosomal recessive |
SAG | chr2 | 2q37.1 | Oguchi disease-1, 258100 (3), Autosomal recessive; Retinitis pigmentosa 47, 613758 (3) |
SALL2 | chr14 | 14q11.1-q12 | ?Coloboma, ocular, autosomal recessive, 216820 (3), Autosomal recessive |
SAMD9 | chr7 | 7q21 | MIRAGE syndrome, 617053 (3), Autosomal dominant; Tumoral calcinosis, familial, normophosphatemic, 610455 (3), Autosomal recessive |
SAMHD1 | chr20 | 20q11.2 | ?Chilblain lupus 2, 614415 (3), Autosomal dominant; Aicardi-Goutieres syndrome 5, 612952 (3), Autosomal recessive |
SAR1B | chr5 | 5q31.1 | Chylomicron retention disease, 246700 (3), Autosomal recessive |
SARDH | chr9 | 9q34.2 | [Sarcosinemia], 268900 (3), Autosomal recessive |
SARS2 | chr19 | 19q13.2 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3), Autosomal recessive |
SASH1 | chr6 | 6q24.3 | ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, 618373 (3), Autosomal recessive; Dyschromatosis universalis hereditaria 1, 127500 (3), Autosomal dominant |
SASS6 | chr1 | 1p21.2 | ?Microcephaly 14, primary, autosomal recessive, 616402 (3), Autosomal recessive |
SBDS | chr7 | 7q11 | {Aplastic anemia, susceptibility to}, 609135 (3); Shwachman-Diamond syndrome, 260400 (3), Autosomal recessive |
SBF1 | chr22 | 22q13.33 | Charcot-Marie-Tooth disease, type 4B3, 615284 (3), Autosomal recessive |
SBF2 | chr11 | 11p15 | Charcot-Marie-Tooth disease, type 4B2, 604563 (3), Autosomal recessive |
SC5D | chr11 | 11q23.3 | Lathosterolosis, 607330 (3), Autosomal recessive |
SCAPER | chr15 | 15q24 | Intellectual developmental disorder and retinitis pigmentosa, 618195 (3), Autosomal recessive |
SCARB2 | chr4 | 4q13-q21 | Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3), Autosomal recessive |
SCARF2 | chr22 | 22q11 | Van den Ende-Gupta syndrome, 600920 (3), Autosomal recessive |
SCN1B | chr19 | 19q13.1 | Epileptic encephalopathy, early infantile, 52, 617350 (3), Autosomal recessive; Atrial fibrillation, familial, 13, 615377 (3), Autosomal dominant; Cardiac conduction defect, nonspecific, 612838 (3); Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3), Autosomal dominant; Brugada syndrome 5, 612838 (3) |
SCN4A | chr17 | 17q23.1-q25.3 | Hyperkalemic periodic paralysis, type 2, 170500 (3), Autosomal dominant; Paramyotonia congenita, 168300 (3), Autosomal dominant; Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3), Autosomal dominant; Myasthenic syndrome, congenital, 16, 614198 (3), Autosomal recessive; Hypokalemic periodic paralysis, type 2, 613345 (3), Autosomal dominant |
SCN5A | chr3 | 3p21 | Atrial fibrillation, familial, 10, 614022 (3), Autosomal dominant; Sick sinus syndrome 1, 608567 (3), Autosomal recessive; {Sudden infant death syndrome, susceptibility to}, 272120 (3), Autosomal recessive; Ventricular fibrillation, familial, 1, 603829 (3); Long QT syndrome 3, 603830 (3), Autosomal dominant; Heart block, nonprogressive, 113900 (3), Autosomal dominant; Cardiomyopathy, dilated, 1E, 601154 (3), Autosomal dominant; Brugada syndrome 1, 601144 (3), Autosomal dominant; Heart block, progressive, type IA, 113900 (3), Autosomal dominant |
SCN9A | chr2 | 2q24 | Neuropathy, hereditary sensory and autonomic, type IID, 243000 (3), Autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7, 613863 (3), Autosomal dominant; Small fiber neuropathy, 133020 (3), Autosomal dominant; Paroxysmal extreme pain disorder, 167400 (3), Autosomal dominant; Insensitivity to pain, congenital, 243000 (3), Autosomal recessive; Erythermalgia, primary, 133020 (3), Autosomal dominant; Febrile seizures, familial, 3B, 613863 (3), Autosomal dominant |
SCNN1A | chr12 | 12p13 | Pseudohypoaldosteronism, type I, 264350 (3), Autosomal recessive; ?Liddle syndrome 3, 618126 (3), Autosomal dominant; Bronchiectasis with or without elevated sweat chloride 2, 613021 (3), Autosomal dominant |
SCNN1B | chr16 | 16p13-p12 | Bronchiectasis with or without elevated sweat chloride 1, 211400 (3), Autosomal dominant; Pseudohypoaldosteronism, type I, 264350 (3), Autosomal recessive; Liddle syndrome 1, 177200 (3), Autosomal dominant |
SCNN1G | chr16 | 16p13-p12 | Bronchiectasis with or without elevated sweat chloride 3, 613071 (3), Autosomal dominant; Liddle syndrome 2, 618114 (3), Autosomal dominant; Pseudohypoaldosteronism, type I, 264350 (3), Autosomal recessive |
SCO1 | chr17 | 17p13-p12 | Mitochondrial complex IV deficiency, 220110 (3), Mitochondrial, Autosomal recessive |
SCO2 | chr22 | 22q13 | Myopia 6, 608908 (3), Autosomal dominant; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3), Autosomal recessive |
SCP2 | chr1 | 1p32 | ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 (3), Autosomal recessive |
SDC3 | chr1 | 1pter-p22.3 | {Obesity, association with}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant |
SDCCAG8 | chr1 | 1q43-q44 | Bardet-Biedl syndrome 16, 615993 (3), Autosomal recessive; Senior-Loken syndrome 7, 613615 (3) |
SDHA | chr5 | 5p15 | Cardiomyopathy, dilated, 1GG, 613642 (3), Autosomal recessive; Leigh syndrome, 256000 (3), Mitochondrial, Autosomal recessive; Paragangliomas 5, 614165 (3), Autosomal dominant; Mitochondrial respiratory chain complex II deficiency, 252011 (3), Autosomal recessive |
SDHAF1 | chr19 | 19q12-q13.2 | Mitochondrial complex II deficiency, 252011 (3), Autosomal recessive |
SDHD | chr11 | 11q23 | Paragangliomas 1, with or without deafness, 168000 (3), Autosomal dominant; Mitochondrial complex II deficiency, 252011 (3), Autosomal recessive; Paraganglioma and gastric stromal sarcoma, 606864 (3); Pheochromocytoma, 171300 (3), Autosomal dominant |
SEC23A | chr14 | 14q21.1 | Craniolenticulosutural dysplasia, 607812 (3), Autosomal recessive |
SEC23B | chr20 | 20p11.2 | ?Cowden syndrome 7, 616858 (3), Autosomal dominant; Dyserythropoietic anemia, congenital, type II, 224100 (3), Autosomal recessive |
SEC24D | chr4 | 4q26 | Cole-Carpenter syndrome 2, 616294 (3), Autosomal recessive |
SECISBP2 | chr9 | 9q22.2 | Thyroid hormone metabolism, abnormal, 609698 (3), Autosomal recessive |
SELENON | chr1 | 1p36-p35 | Muscular dystrophy, rigid spine, 1, 602771 (3), Autosomal recessive; Myopathy, congenital, with fiber-type disproportion, 255310 (3), Autosomal recessive, Autosomal dominant |
SEMA4A | chr1 | 1q22 | Cone-rod dystrophy 10, 610283 (3), Autosomal recessive; Retinitis pigmentosa 35, 610282 (3), Autosomal recessive, Autosomal dominant |
SEPSECS | chr4 | 4p15.2 | Pontocerebellar hypoplasia type 2D, 613811 (3), Autosomal recessive |
SERAC1 | chr6 | 6q25.3 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3), Autosomal recessive |
SERPINA1 | chr14 | 14q32.1 | Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3), Autosomal recessive; Emphysema-cirrhosis, due to AAT deficiency, 613490 (3), Autosomal recessive; Emphysema due to AAT deficiency, 613490 (3), Autosomal recessive |
SERPINA6 | chr14 | 14q32.1 | Corticosteroid-binding globulin deficiency, 611489 (3), Autosomal recessive, Autosomal dominant |
SERPINB6 | chr6 | 6p25 | ?Deafness, autosomal recessive 91, 613453 (3), Autosomal recessive |
SERPINB7 | chr18 | 18q21.3 | Palmoplantar keratoderma, Nagashima type, 615598 (3), Autosomal recessive |
SERPINC1 | chr1 | 1q23-q25 | Thrombophilia due to antithrombin III deficiency, 613118 (3), Autosomal recessive, Autosomal dominant |
SERPINE1 | chr7 | 7q21.3-q22 | {Transcription of plasminogen activator inhibitor, modulator of} (3); Plasminogen activator inhibitor-1 deficiency, 613329 (3), Autosomal recessive, Autosomal dominant |
SERPINF1 | chr17 | 17p13.3 | Osteogenesis imperfecta, type VI, 613982 (3), Autosomal recessive |
SERPINF2 | chr17 | 17pter-p12 | Alpha-2-plasmin inhibitor deficiency, 262850 (3), Autosomal recessive |
SERPING1 | chr11 | 11q11-q13.1 | Angioedema, hereditary, types I and II, 106100 (3), Autosomal recessive, Autosomal dominant; Complement component 4, partial deficiency of, 120790 (3), Autosomal dominant |
SERPINH1 | chr11 | 11q13.5 | Osteogenesis imperfecta, type X, 613848 (3), Autosomal recessive; {Preterm premature rupture of the membranes, susceptibility to}, 610504 (3) |
SETX | chr9 | 9q34 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002 (3), Autosomal recessive; Amyotrophic lateral sclerosis 4, juvenile, 602433 (3), Autosomal dominant |
SFTPB | chr2 | 2p12-p11.2 | Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3), Autosomal recessive |
SFTPC | chr8 | 8p21 | Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3), Autosomal dominant |
SFXN4 | chr10 | 10q26.11 | Combined oxidative phosphorylation deficiency 18, 615578 (3), Autosomal recessive |
SGCA | chr17 | 17q12-q21.33 | Muscular dystrophy, limb-girdle, autosomal recessive 3, 608099 (3), Autosomal recessive |
SGCB | chr4 | 4q12 | Muscular dystrophy, limb-girdle, autosomal recessive 4, 604286 (3), Autosomal recessive |
SGCD | chr5 | 5q33 | Cardiomyopathy, dilated, 1L, 606685 (3); Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 (3), Autosomal recessive |
SGCG | chr13 | 13q12 | Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3), Autosomal recessive |
SGO1 | chr3 | 3p24.3 | Chronic atrial and intestinal dysrhythmia, 616201 (3), Autosomal recessive |
SGSH | chr17 | 17q25.3 | Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 (3), Autosomal recessive |
SH2D1A | chrX | Xq25 | Lymphoproliferative syndrome, X-linked, 1, 308240 (3), X-linked recessive |
SH3PXD2B | chr5 | 5q35.1 | Frank-ter Haar syndrome, 249420 (3), Autosomal recessive |
SH3TC2 | chr5 | 5q32 | Charcot-Marie-Tooth disease, type 4C, 601596 (3), Autosomal recessive; Mononeuropathy of the median nerve, mild, 613353 (3), Autosomal dominant |
SHOX | chrX | Xpter-p22.32 | Langer mesomelic dysplasia, 249700 (3), Pseudoautosomal recessive; Short stature, idiopathic familial, 300582 (3); Leri-Weill dyschondrosteosis, 127300 (3), Pseudoautosomal dominant |
SHROOM4 | chrX | Xp11.2 | Stocco dos Santos X-linked mental retardation syndrome, 300434 (3), X-linked |
SI | chr3 | 3q25-q26 | Sucrase-isomaltase deficiency, congenital, 222900 (3), Autosomal recessive |
SIGMAR1 | chr9 | 9p13 | ?Amyotrophic lateral sclerosis 16, juvenile, 614373 (3), Autosomal recessive; ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726 (3), Autosomal recessive |
SIK3 | chr11 | 11q23.3 | ?Spondyloepimetaphyseal dysplasia, Krakow type, 618162 (3), Autosomal recessive |
SIL1 | chr5 | 5q31 | Marinesco-Sjogren syndrome, 248800 (3), Autosomal recessive |
SIX6 | chr14 | 14q23 | Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3), Autosomal recessive |
SKIV2L | chr6 | 6p21 | Trichohepatoenteric syndrome 2, 614602 (3), Autosomal recessive |
SLC10A2 | chr13 | 13q33 | Bile acid malabsorption, primary, 613291 (3), Autosomal recessive |
SLC11A2 | chr12 | 12q13 | Anemia, hypochromic microcytic, with iron overload 1, 206100 (3), Autosomal recessive |
SLC12A1 | chr15 | 15q15-q21.1 | Bartter syndrome, type 1, 601678 (3), Autosomal recessive |
SLC12A3 | chr16 | 16q13 | Gitelman syndrome, 263800 (3), Autosomal recessive |
SLC12A5 | chr20 | 20q12-q13.1 | Epileptic encephalopathy, early infantile, 34, 616645 (3), Autosomal recessive; {Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 (3), Autosomal dominant |
SLC12A6 | chr15 | 15q13-q14 | Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3), Autosomal recessive |
SLC13A5 | chr17 | 17p13-p12 | Epileptic encephalopathy, early infantile, 25, 615905 (3), Autosomal recessive |
SLC16A1 | chr1 | 1p13.2-p12 | Monocarboxylate transporter 1 deficiency, 616095 (3), Autosomal recessive, Autosomal dominant; Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3), Autosomal dominant; Erythrocyte lactate transporter defect, 245340 (3), Autosomal dominant |
SLC16A2 | chrX | Xq13.2 | Allan-Herndon-Dudley syndrome, 300523 (3), X-linked |
SLC17A5 | chr6 | 6q14-q15 | Sialic acid storage disorder, infantile, 269920 (3), Autosomal recessive; Salla disease, 604369 (3), Autosomal recessive |
SLC19A2 | chr1 | 1q23.3 | Thiamine-responsive megaloblastic anemia syndrome, 249270 (3), Autosomal recessive |
SLC19A3 | chr2 | 2q36.3 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3), Autosomal recessive |
SLC1A1 | chr9 | 9p24 | {?Schizophrenia susceptibility 18}, 615232 (3); Dicarboxylic aminoaciduria, 222730 (3), Autosomal recessive |
SLC22A12 | chr11 | 11q13 | Hypouricemia, renal, 220150 (3), Autosomal recessive |
SLC22A5 | chr5 | 5q31.1 | Carnitine deficiency, systemic primary, 212140 (3), Autosomal recessive |
SLC24A1 | chr15 | 15q22 | Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 (3), Autosomal recessive |
SLC24A4 | chr14 | 14q32 | [Skin/hair/eye pigmentation 6, blue/green eyes], 210750 (3), Autosomal recessive; Amelogenesis imperfecta, type IIA5, 615887 (3), Autosomal recessive; [Skin/hair/eye pigmentation 6, blond/brown hair], 210750 (3), Autosomal recessive |
SLC24A5 | chr15 | 15q21.1 | [Skin/hair/eye pigmentation 4, fair/dark skin], 113750 (3), Autosomal recessive; Albinism, oculocutaneous, type VI, 113750 (3), Autosomal recessive |
SLC25A1 | chr22 | 22q11 | Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3), Autosomal recessive; Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3), Autosomal recessive |
SLC25A12 | chr2 | 2q24 | Epileptic encephalopathy, early infantile, 39, 612949 (3), Autosomal recessive |
SLC25A13 | chr7 | 7q21.3 | Citrullinemia, adult-onset type II, 603471 (3), Autosomal recessive; Citrullinemia, type II, neonatal-onset, 605814 (3), Autosomal recessive |
SLC25A15 | chr13 | 13q14 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3), Autosomal recessive |
SLC25A19 | chr17 | 17q25.3 | Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3), Autosomal recessive; Microcephaly, Amish type, 607196 (3), Autosomal recessive |
SLC25A20 | chr3 | 3p21.31 | Carnitine-acylcarnitine translocase deficiency, 212138 (3), Autosomal recessive |
SLC25A21 | chr14 | 14q11.2 | ?Mitochondrial DNA depletion syndrome 18, 618811 (3), Autosomal recessive |
SLC25A22 | chr11 | 11p15.5 | Epileptic encephalopathy, early infantile, 3, 609304 (3), Autosomal recessive |
SLC25A3 | chr3 | 3p22.1 | Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 (3), Autosomal recessive |
SLC25A38 | chr3 | 3p22.1 | Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 (3), Autosomal recessive |
SLC25A4 | chr4 | 4q35 | Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 (3), Autosomal dominant; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283 (3), Autosomal dominant |
SLC25A46 | chr5 | 5q22.1 | Neuropathy, hereditary motor and sensory, type VIB, 616505 (3), Autosomal recessive |
SLC26A1 | chr4 | 4p16.3 | ?Nephrolithiasis, calcium oxalate, 167030 (3), Autosomal recessive |
SLC26A2 | chr5 | 5q32-q33.1 | De la Chapelle dysplasia, 256050 (3), Autosomal recessive; Atelosteogenesis, type II, 256050 (3), Autosomal recessive; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3), Autosomal recessive; Diastrophic dysplasia, 222600 (3), Autosomal recessive; Achondrogenesis Ib, 600972 (3), Autosomal recessive; Epiphyseal dysplasia, multiple, 4, 226900 (3), Autosomal recessive |
SLC26A3 | chr7 | 7q22-q31.1 | Diarrhea 1, secretory chloride, congenital, 214700 (3), Autosomal recessive |
SLC26A4 | chr7 | 7q31 | Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791 (3), Autosomal recessive; Pendred syndrome, 274600 (3), Autosomal recessive |
SLC26A5 | chr7 | 7q22.1 | ?Deafness, autosomal recessive 61, 613865 (3), Autosomal recessive |
SLC27A4 | chr9 | 9q34 | Ichthyosis prematurity syndrome, 608649 (3) |
SLC28A1 | chr15 | 15q25-q26 | [Uridine-cytidineuria], 618477 (3), Autosomal recessive |
SLC29A3 | chr10 | 10q22.1 | Histiocytosis-lymphadenopathy plus syndrome, 602782 (3), Autosomal recessive |
SLC2A1 | chr1 | 1p34.2 | Dystonia 9, 601042 (3), Autosomal dominant; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (3), Autosomal recessive, Autosomal dominant; Stomatin-deficient cryohydrocytosis with neurologic defects, 608885 (3), Autosomal dominant; GLUT1 deficiency syndrome 2, childhood onset, 612126 (3), Autosomal dominant; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847 (3), Autosomal dominant |
SLC2A10 | chr20 | 20q13.1 | Arterial tortuosity syndrome, 208050 (3), Autosomal recessive |
SLC2A2 | chr3 | 3q26.1-q26.3 | Fanconi-Bickel syndrome, 227810 (3), Autosomal recessive; {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant |
SLC2A9 | chr4 | 4p16-p15.3 | {Uric acid concentration, serum, QTL 2}, 612076 (3), Autosomal recessive, Autosomal dominant; Hypouricemia, renal, 2, 612076 (3), Autosomal recessive, Autosomal dominant |
SLC30A10 | chr1 | 1q41 | Hypermanganesemia with dystonia 1, 613280 (3), Autosomal recessive |
SLC33A1 | chr3 | 3q25.31 | Spastic paraplegia 42, autosomal dominant, 612539 (3), Autosomal dominant; Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3), Autosomal recessive |
SLC34A1 | chr5 | 5q35 | Nephrolithiasis/ osteoporosis, hypophosphatemic, 1, 612286 (3), Autosomal dominant; Hypercalcemia, infantile, 2, 616963 (3), Autosomal recessive; ?Fanconi renotubular syndrome 2, 613388 (3), Autosomal recessive |
SLC34A2 | chr4 | 4p15.31-p15.2 | Pulmonary alveolar microlithiasis, 265100 (3), Autosomal recessive |
SLC34A3 | chr9 | 9q34 | Hypophosphatemic rickets with hypercalciuria, 241530 (3), Autosomal recessive |
SLC35A1 | chr6 | 6q15 | Congenital disorder of glycosylation, type IIf, 603585 (3), Autosomal recessive |
SLC35A3 | chr1 | 1p21 | ?Arthrogryposis, mental retardation, and seizures, 615553 (3), Autosomal recessive |
SLC35C1 | chr11 | 11p11.2 | Congenital disorder of glycosylation, type IIc, 266265 (3), Autosomal recessive |
SLC35D1 | chr1 | 1p32-p31 | Schneckenbecken dysplasia, 269250 (3), Autosomal recessive |
SLC36A2 | chr5 | 5q33.1 | Iminoglycinuria, digenic, 242600 (3), Digenic recessive, Autosomal recessive; Hyperglycinuria, 138500 (3), Autosomal dominant |
SLC37A4 | chr11 | 11q23 | Glycogen storage disease Ic, 232240 (3), Autosomal recessive; Glycogen storage disease Ib, 232220 (3), Autosomal recessive |
SLC38A8 | chr16 | 16q23.3 | Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3), Autosomal recessive |
SLC39A13 | chr11 | 11p11.2 | Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350 (3), Autosomal recessive |
SLC39A4 | chr8 | 8q24.3 | Acrodermatitis enteropathica, 201100 (3), Autosomal recessive |
SLC3A1 | chr2 | 2p16.3 | Cystinuria, 220100 (3), Autosomal recessive, Autosomal dominant |
SLC45A2 | chr5 | 5p13.3 | [Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3), Autosomal recessive; [Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3), Autosomal recessive; Albinism, oculocutaneous, type IV, 606574 (3), Autosomal recessive; [Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3), Autosomal recessive |
SLC46A1 | chr17 | 17q11.1 | Folate malabsorption, hereditary, 229050 (3), Autosomal recessive |
SLC4A1 | chr17 | 17q21-q22 | Renal tubular acidosis, distal, AD, 179800 (3), Autosomal dominant; [Blood group, Swann], 601550 (3); [Blood group, Froese], 601551 (3); [Blood group, Waldner], 112010 (3); Renal tubular acidosis, distal, AR, 611590 (3), Autosomal recessive; Spherocytosis, type 4, 612653 (3), Autosomal dominant; Cryohydrocytosis, 185020 (3), Autosomal dominant; Ovalocytosis, SA type, 166900 (3), Autosomal dominant; [Malaria, resistance to], 611162 (3); [Blood group, Diego], 110500 (3); [Blood group, Wright], 112050 (3) |
SLC4A11 | chr20 | 20p13-p12 | Corneal endothelial dystrophy, autosomal recessive, 217700 (3), Autosomal recessive; Corneal dystrophy, Fuchs endothelial, 4, 613268 (3); Corneal endothelial dystrophy and perceptive deafness, 217400 (3), Autosomal recessive |
SLC4A4 | chr4 | 4q21 | Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3), Autosomal recessive |
SLC52A2 | chr8 | 8q24.3 | Brown-Vialetto-Van Laere syndrome 2, 614707 (3), Autosomal recessive |
SLC52A3 | chr20 | 20p13 | Brown-Vialetto-Van Laere syndrome 1, 211530 (3), Autosomal recessive; ?Fazio-Londe disease, 211500 (3), Autosomal recessive |
SLC5A1 | chr22 | 22q13.1 | Glucose/galactose malabsorption, 606824 (3), Autosomal recessive |
SLC5A2 | chr16 | 16p11.2 | Renal glucosuria, 233100 (3), Autosomal recessive, Autosomal dominant |
SLC5A5 | chr19 | 19p13.2-p12 | Thyroid dyshormonogenesis 1, 274400 (3), Autosomal recessive |
SLC5A7 | chr2 | 2q12.3 | Neuronopathy, distal hereditary motor, type VIIA, 158580 (3), Autosomal dominant; Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3), Autosomal recessive |
SLC6A17 | chr1 | 1p13.3 | Mental retardation, autosomal recessive 48, 616269 (3), Autosomal recessive |
SLC6A19 | chr5 | 5p15.33 | Iminoglycinuria, digenic, 242600 (3), Digenic recessive, Autosomal recessive; Hartnup disorder, 234500 (3), Autosomal recessive; Hyperglycinuria, 138500 (3), Autosomal dominant |
SLC6A20 | chr3 | 3p21.3 | Iminoglycinuria, digenic, 242600 (3), Digenic recessive, Autosomal recessive; Hyperglycinuria, 138500 (3), Autosomal dominant |
SLC6A3 | chr5 | 5p15.3 | {Nicotine dependence, protection against}, 188890 (3); Parkinsonism-dystonia, infantile, 1, 613135 (3), Autosomal recessive |
SLC6A5 | chr11 | 11p15.2-p15.1 | Hyperekplexia 3, 614618 (3), Autosomal recessive, Autosomal dominant |
SLC6A8 | chrX | Xq28 | Cerebral creatine deficiency syndrome 1, 300352 (3), X-linked recessive |
SLC6A9 | chr1 | 1p33 | Glycine encephalopathy with normal serum glycine, 617301 (3), Autosomal recessive |
SLC7A14 | chr3 | 3q26.2 | Retinitis pigmentosa 68, 615725 (3), Autosomal recessive |
SLC7A7 | chr14 | 14q11.2 | Lysinuric protein intolerance, 222700 (3), Autosomal recessive |
SLC7A9 | chr19 | 19q13.1 | Cystinuria, 220100 (3), Autosomal recessive, Autosomal dominant |
SLC9A1 | chr1 | 1p36.1-p35 | ?Lichtenstein-Knorr syndrome, 616291 (3), Autosomal recessive |
SLC9A3 | chr5 | 5p15.3 | Diarrhea 8, secretory sodium, congenital, 616868 (3), Autosomal recessive |
SLC9A6 | chrX | Xq26.3 | Mental retardation, X-linked syndromic, Christianson type, 300243 (3), X-linked dominant |
SLCO1B1 | chr12 | 12p12 | Hyperbilirubinemia, Rotor type, digenic, 237450 (3), Digenic recessive |
SLCO1B3 | chr12 | 12p12.2 | Hyperbilirubinemia, Rotor type, digenic, 237450 (3), Digenic recessive |
SLCO2A1 | chr3 | 3q21 | Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3), Autosomal recessive |
SLITRK6 | chr13 | 13q31 | Deafness and myopia, 221200 (3), Autosomal recessive |
SLURP1 | chr8 | 8qter | Meleda disease, 248300 (3), Autosomal recessive |
SLX4 | chr16 | 16p13.3 | Fanconi anemia, complementation group P, 613951 (3), Autosomal recessive |
SMARCAL1 | chr2 | 2q34-q36 | Schimke immunoosseous dysplasia, 242900 (3), Autosomal recessive |
SMIM1 | chr1 | 1p36 | [Blood group, Vel system], 615264 (3), Autosomal recessive |
SMN1 | chr5 | 5q12.2-q13.3 | Spinal muscular atrophy-2, 253550 (3), Autosomal recessive; Spinal muscular atrophy-3, 253400 (3), Autosomal recessive; Spinal muscular atrophy-1, 253300 (3), Autosomal recessive; Spinal muscular atrophy-4, 271150 (3), Autosomal recessive |
SMN2 | chr5 | 5q12.2-q13.3 | {Spinal muscular atrophy, type III, modifier of}, 253400 (3), Autosomal recessive |
SMO | chr7 | 7q31-q32 | Curry-Jones syndrome, somatic mosaic, 601707 (3); Pallister-Hall-like syndrome, 241800 (3), Autosomal recessive; Basal cell carcinoma, somatic, 605462 (3) |
SMOC1 | chr14 | 14q24.1 | Microphthalmia with limb anomalies, 206920 (3), Autosomal recessive |
SMOC2 | chr6 | 6q27 | Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400 (3), Autosomal recessive |
SMPD1 | chr11 | 11p15.4-p15.1 | Niemann-Pick disease, type A, 257200 (3), Autosomal recessive; Niemann-Pick disease, type B, 607616 (3), Autosomal recessive |
SMPX | chrX | Xp22.1 | Deafness, X-linked 4, 300066 (3), X-linked dominant |
SMS | chrX | Xp22.1 | Mental retardation, X-linked, Snyder-Robinson type, 309583 (3), X-linked recessive |
SNAI2 | chr8 | 8q11 | Waardenburg syndrome, type 2D, 608890 (3), Autosomal recessive; Piebaldism, 172800 (3), Autosomal dominant |
SNAP29 | chr22 | 22q11.2 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3), Autosomal recessive |
SNIP1 | chr1 | 1p34.3 | Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 (3), Autosomal recessive |
SNX10 | chr7 | 7p15.2 | Osteopetrosis, autosomal recessive 8, 615085 (3), Autosomal recessive |
SNX14 | chr6 | 6q14.3 | Spinocerebellar ataxia, autosomal recessive 20, 616354 (3), Autosomal recessive |
SOBP | chr6 | 6q21 | Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3), Autosomal recessive |
SOD1 | chr21 | 21q22.1 | Spastic tetraplegia and axial hypotonia, progressive, 618598 (3), Autosomal recessive; Amyotrophic lateral sclerosis 1, 105400 (3), Autosomal recessive, Autosomal dominant |
SOHLH1 | chr9 | 9q34.3 | Ovarian dysgenesis 5, 617690 (3), Autosomal recessive; Spermatogenic failure 32, 618115 (3), Autosomal dominant |
SORD | chr15 | 15q15.3 | Sorbitol dehydrogenase deficiency with peripheral neuropathy, 618912 (3), Autosomal recessive |
SOST | chr17 | 17q12-q21 | Sclerosteosis 1, 269500 (3), Autosomal recessive; Van Buchem disease, 239100 (3), Autosomal recessive; Craniodiaphyseal dysplasia, autosomal dominant, 122860 (3), Autosomal dominant |
SOX18 | chr20 | 20q13.33 | Hypotrichosis- lymphedema-telangiectasia-renal defect syndrome, 137940 (3), Autosomal dominant; Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 (3), Autosomal recessive |
SOX3 | chrX | Xq26.3 | Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 (3); Panhypopituitarism, X-linked, 312000 (3), X-linked |
SP110 | chr2 | 2q37.1 | {Mycobacterium tuberculosis, susceptibility to}, 607948 (3); Hepatic venoocclusive disease with immunodeficiency, 235550 (3), Autosomal recessive |
SP7 | chr12 | 12q13.13 | Osteogenesis imperfecta, type XII, 613849 (3), Autosomal recessive |
SPAG1 | chr8 | 8q22 | Ciliary dyskinesia, primary, 28, 615505 (3), Autosomal recessive |
SPART | chr13 | 13q12.3 | Troyer syndrome, 275900 (3), Autosomal recessive |
SPATA16 | chr3 | 3q26.3 | ?Spermatogenic failure 6, 102530 (3), Autosomal recessive |
SPATA5L1 | chr15 | 15q21.1 | Deafness, autosomal recessive 119 |
SPATA7 | chr14 | 14q31.3 | Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3); Leber congenital amaurosis 3, 604232 (3) |
SPEF2 | chr5 | 5p13.2 | Spermatogenic failure 43, 618751 (3), Autosomal recessive |
SPEG | chr2 | 2q35 | Centronuclear myopathy 5, 615959 (3), Autosomal recessive |
SPG11 | chr15 | 15q21.1 | Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3), Autosomal recessive; Spastic paraplegia 11, autosomal recessive, 604360 (3), Autosomal recessive; Amyotrophic lateral sclerosis 5, juvenile, 602099 (3), Autosomal recessive |
SPG21 | chr15 | 15q21-q22 | Mast syndrome, 248900 (3), Autosomal recessive |
SPG7 | chr16 | 16q24.3 | Spastic paraplegia 7, autosomal recessive, 607259 (3), Autosomal recessive, Autosomal dominant |
SPINK1 | chr5 | 5q32 | {Fibrocalculous pancreatic diabetes, susceptibility to}, 608189 (3), Autosomal recessive, Autosomal dominant; Pancreatitis, hereditary, 167800 (3), Autosomal dominant; Tropical calcific pancreatitis, 608189 (3), Autosomal recessive, Autosomal dominant |
SPINK5 | chr5 | 5q32 | Netherton syndrome, 256500 (3), Autosomal recessive |
SPINT2 | chr19 | 19q13.1 | Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3), Autosomal recessive |
SPR | chr2 | 2p14-p12 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3), ?Autosomal dominant, Autosomal recessive |
SPRTN | chr1 | 1q42.2 | Ruijs-Aalfs syndrome, 616200 (3), Autosomal recessive |
SPTA1 | chr1 | 1q21 | Pyropoikilocytosis, 266140 (3), Autosomal recessive; Elliptocytosis-2, 130600 (3), Autosomal dominant; Spherocytosis, type 3, 270970 (3), Autosomal recessive |
SPTBN2 | chr11 | 11q13 | Spinocerebellar ataxia, autosomal recessive 14, 615386 (3), Autosomal recessive; Spinocerebellar ataxia 5, 600224 (3), Autosomal dominant |
SQSTM1 | chr5 | 5q35 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (3), Autosomal dominant; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3), Autosomal recessive; Myopathy, distal, with rimmed vacuoles, 617158 (3), Autosomal dominant; Paget disease of bone 3, 167250 (3), Autosomal dominant |
SRD5A2 | chr2 | 2p23 | Pseudovaginal perineoscrotal hypospadias, 264600 (3), Autosomal recessive |
SRD5A3 | chr4 | 4q12 | Kahrizi syndrome, 612713 (3), Autosomal recessive; Congenital disorder of glycosylation, type Iq, 612379 (3), Autosomal recessive |
SSR4 | chrX | Xq28 | Congenital disorder of glycosylation, type Iy, 300934 (3), X-linked recessive |
ST14 | chr11 | 11q24-q25 | Ichthyosis, congenital, autosomal recessive 11, 602400 (3), Autosomal recessive |
ST3GAL3 | chr1 | 1p34.1 | Mental retardation, autosomal recessive 12, 611090 (3), Autosomal recessive; ?Epileptic encephalopathy, early infantile, 15, 615006 (3), Autosomal recessive |
ST3GAL5 | chr2 | 2p11.2 | Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive |
STAC3 | chr12 | 12q13.3 | Myopathy, congenital, Baily-Bloch, 255995 (3), Autosomal recessive |
STAG2 | chrX | Xq25 | Mullegama-Klein-Martinez syndrome, 301022 (3), X-linked; Holoprosencephaly 13, X-linked, 301043 (3), X-linked dominant, X-linked recessive |
STAG3 | chr7 | 7q22 | Premature ovarian failure 8, 615723 (3), Autosomal recessive |
STAMBP | chr2 | 2p13.1 | Microcephaly-capillary malformation syndrome, 614261 (3), Autosomal recessive |
STAR | chr8 | 8p11.2 | Lipoid adrenal hyperplasia, 201710 (3), Autosomal recessive |
STAT1 | chr2 | 2q32.2-q32.3 | Immunodeficiency 31C, autosomal dominant, 614162 (3), Autosomal dominant; Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892 (3), Autosomal dominant; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3), Autosomal recessive |
STAT2 | chr12 | 12q13.2 | Immunodeficiency 44, 616636 (3), Autosomal recessive; Pseudo-TORCH syndrome 3, 618886 (3), Autosomal recessive |
STAT5B | chr17 | 17q11.2 | Leukemia, acute promyelocytic, somatic, 102578 (3); Growth hormone insensitivity with immunodeficiency, 245590 (3) |
STIL | chr1 | 1p33 | Microcephaly 7, primary, autosomal recessive, 612703 (3), Autosomal recessive |
STIM1 | chr11 | 11p15.5 | Myopathy, tubular aggregate, 1, 160565 (3), Autosomal dominant; Immunodeficiency 10, 612783 (3), Autosomal recessive; Stormorken syndrome, 185070 (3), Autosomal dominant |
STRA6 | chr15 | 15q24.1 | Microphthalmia, isolated, with coloboma 8, 601186 (3), Autosomal recessive; Microphthalmia, syndromic 9, 601186 (3), Autosomal recessive |
STRADA | chr17 | 17q23.3 | Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3), Autosomal recessive |
STRC | chr15 | 15q15 | Deafness, autosomal recessive 16, 603720 (3), Autosomal recessive |
STS | chrX | Xp22.32 | Ichthyosis, X-linked, 308100 (3), X-linked recessive |
STT3A | chr11 | 11q23.3 | ?Congenital disorder of glycosylation, type Iw, 615596 (3), Autosomal recessive |
STT3B | chr3 | 3p23 | ?Congenital disorder of glycosylation, type Ix, 615597 (3), Autosomal recessive |
STUB1 | chr16 | 16p13.3 | Spinocerebellar ataxia, autosomal recessive 16, 615768 (3), Autosomal recessive; ?Spinocerebellar ataxia 48, 618093 (3), Autosomal dominant |
STX11 | chr6 | 6q24 | Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3), Autosomal recessive |
STXBP2 | chr19 | 19p13.3-p13.2 | Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3) |
SUCLA2 | chr13 | 13q14.2 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3), Autosomal recessive |
SUCLG1 | chr2 | 2p11.2 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3), Autosomal recessive |
SUFU | chr10 | 10q24-q25 | Basal cell nevus syndrome, 109400 (3), Autosomal dominant; Medulloblastoma, desmoplastic, 155255 (3), Somatic mutation, Autosomal recessive, Autosomal dominant; {Meningioma, familial, susceptibility to}, 607174 (3), Autosomal dominant; Joubert syndrome 32, 617757 (3), Autosomal recessive |
SUGCT | chr7 | 7p14 | Glutaric aciduria III, 231690 (3), Autosomal recessive |
SULT2B1 | chr19 | 19q13.3 | Ichthyosis, congenital, autosomal recessive 14, 617571 (3), Autosomal recessive |
SUMF1 | chr3 | 3p26 | Multiple sulfatase deficiency, 272200 (3), Autosomal recessive |
SUOX | chr12 | Chr.12 | Sulfite oxidase deficiency, 272300 (3), Autosomal recessive |
SURF1 | chr9 | 9q34 | Leigh syndrome, due to COX IV deficiency, 256000 (3), Mitochondrial, Autosomal recessive; Charcot-Marie-Tooth disease, type 4K, 616684 (3), Autosomal recessive |
SYN1 | chrX | Xp11.4-p11.2 | Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3), X-linked dominant, X-linked recessive |
SYNE1 | chr6 | 6q25 | Arthrogryposis multiplex congenita 3, myogenic type, 618484 (3), Autosomal recessive; Spinocerebellar ataxia, autosomal recessive 8, 610743 (3), Autosomal recessive; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3), Autosomal dominant |
SYNE4 | chr19 | 19q13.12 | Deafness, autosomal recessive 76, 615540 (3), Autosomal recessive |
SYNJ1 | chr21 | 21q22.2 | Epileptic encephalopathy, early infantile, 53, 617389 (3), Autosomal recessive; Parkinson disease 20, early-onset, 615530 (3), Autosomal recessive |
SYP | chrX | Xp11.23-p11.22 | Mental retardation, X-linked 96, 300802 (3), X-linked recessive |
SYT14 | chr1 | 1q32.2 | ?Spinocerebellar ataxia, autosomal recessive 11, 614229 (3), Autosomal recessive |
SZT2 | chr1 | 1p34.2 | Epileptic encephalopathy, early infantile, 18, 615476 (3), Autosomal recessive |
TAC3 | chr12 | 12q13-q21 | Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 (3), Autosomal recessive |
TACO1 | chr17 | 17q22-q24.2 | Mitochondrial complex IV deficiency, 220110 (3), Mitochondrial, Autosomal recessive |
TACR3 | chr4 | 4q25 | Hypogonadotropic hypogonadism 11 with or without anosmia, 614840 (3), Autosomal recessive |
TACSTD2 | chr1 | 1p32 | Corneal dystrophy, gelatinous drop-like, 204870 (3), Autosomal recessive |
TAF1 | chrX | Xq13 | Dystonia-Parkinsonism, X-linked, 314250 (3), X-linked recessive; Mental retardation, X-linked, syndromic 33, 300966 (3), X-linked recessive |
TAF2 | chr8 | 8q24.12 | Mental retardation, autosomal recessive 40, 615599 (3), Autosomal recessive |
TAF4B | chr18 | 18q11.2 | ?Spermatogenic failure 13, 615841 (3), Autosomal recessive |
TAF6 | chr7 | 7q22.1 | Alazami-Yuan syndrome, 617126 (3), Autosomal recessive |
TALDO1 | chr11 | 11p15.5-p15.4 | Transaldolase deficiency, 606003 (3), Autosomal recessive |
TAP1 | chr6 | 6p21.3 | Bare lymphocyte syndrome, type I, 604571 (3), Autosomal recessive |
TAP2 | chr6 | 6p21.3 | Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3), Autosomal recessive |
TAPBP | chr6 | 6p21.3 | Bare lymphocyte syndrome, type I, 604571 (3), Autosomal recessive |
TARS2 | chr1 | 1q21.2 | ?Combined oxidative phosphorylation deficiency 21, 615918 (3), Autosomal recessive |
TAT | chr16 | 16q22.1-q22.3 | Tyrosinemia, type II, 276600 (3), Autosomal recessive |
TAZ | chrX | Xq28 | Barth syndrome, 302060 (3), X-linked recessive |
TBC1D20 | chr20 | 20p13 | Warburg micro syndrome 4, 615663 (3), Autosomal recessive |
TBC1D23 | chr3 | 3q12.1-q12.2 | Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive |
TBC1D24 | chr16 | 16p13.3 | Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, 608105 (3), Autosomal recessive; DOORS syndrome, 220500 (3), Autosomal recessive; Deafness, autosomal dominant 65, 616044 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 16, 615338 (3), Autosomal recessive; Myoclonic epilepsy, infantile, familial, 605021 (3), Autosomal recessive; Deafness , autosomal recessive 86, 614617 (3), Autosomal recessive |
TBC1D7 | chr6 | 6p24.1 | Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000 (3), Autosomal recessive |
TBCE | chr1 | 1q42-q43 | Kenny-Caffey syndrome, type 1, 244460 (3), Autosomal recessive; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 (3), Autosomal recessive; Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 (3), Autosomal recessive |
TBCK | chr4 | 4q24 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3), Autosomal recessive |
TBX15 | chr1 | 1p13 | Cousin syndrome, 260660 (3), Autosomal recessive |
TBX19 | chr1 | 1q23-q24 | Adrenocorticotropic hormone deficiency, 201400 (3), Autosomal recessive |
TBX21 | chr17 | 17q21.3 | {Asthma, aspirin-induced, susceptibility to}, 208550 (3), Autosomal recessive; Asthma and nasal polyps, 208550 (3), Autosomal recessive |
TBX4 | chr17 | 17q21-q22 | Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, 601360 (3), Autosomal recessive; Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, 147891 (3), Autosomal dominant |
TBX6 | chr16 | 16p11.2 | Spondylocostal dysostosis 5, 122600 (3), Autosomal recessive, Autosomal dominant |
TBXAS1 | chr7 | 7q34 | Ghosal hematodiaphyseal syndrome, 231095 (3), Autosomal recessive |
TCAP | chr17 | 17q12 | Cardiomyopathy, hypertrophic, 25, 607487 (3), Autosomal dominant; Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 (3), Autosomal recessive |
TCF4 | chr18 | 18q21.2 | Corneal dystrophy, Fuchs endothelial, 3, 613267 (3), Autosomal dominant; Pitt-Hopkins syndrome, 610954 (3), Autosomal dominant |
TCIRG1 | chr11 | 11q13.4-q13.5 | Osteopetrosis, autosomal recessive 1, 259700 (3), Autosomal recessive |
TCN2 | chr22 | 22q11.2-qter | Transcobalamin II deficiency, 275350 (3), Autosomal recessive |
TCTN1 | chr12 | 12q24.1 | Joubert syndrome 13, 614173 (3), Autosomal recessive |
TCTN2 | chr12 | 12q24.31 | Joubert syndrome 24, 616654 (3), Autosomal recessive; ?Meckel syndrome 8, 613885 (3), Autosomal recessive |
TCTN3 | chr10 | 10q24.1 | Orofaciodigital syndrome IV, 258860 (3), Autosomal recessive; Joubert syndrome 18, 614815 (3), Autosomal recessive |
TDO2 | chr4 | 4q31-q32 | [?Hypertryptophanemia], 600627 (3), Autosomal recessive |
TDP1 | chr14 | 14q31-q32 | ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, 607250 (3), Autosomal recessive |
TDP2 | chr6 | 6p22.3-p22.1 | Spinocerebellar ataxia, autosomal recessive 23, 616949 (3), Autosomal recessive |
TDRD7 | chr9 | 9q22.33 | Cataract 36, 613887 (3), Autosomal recessive |
TECPR2 | chr14 | 14q32.31 | Spastic paraplegia 49, autosomal recessive, 615031 (3), Autosomal recessive |
TECR | chr19 | 19p13.12 | Mental retardation, autosomal recessive 14, 614020 (3), Autosomal recessive |
TECTA | chr11 | 11q22-q24 | Deafness, autosomal dominant 8/12, 601543 (3), Autosomal dominant; Deafness, autosomal recessive 21, 603629 (3), Autosomal recessive |
TELO2 | chr16 | 16p13.3 | You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive |
TENM3 | chr4 | 4q35.1 | Microphthalmia, syndromic 15, 615145 (3), Autosomal recessive; ?Microphthalmia, isolated, with coloboma 9, 615145 (3), Autosomal recessive |
TERT | chr5 | 5p15.33 | {Melanoma, cutaneous malignant, 9}, 615134 (3); {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3), Autosomal dominant; {Leukemia, acute myeloid}, 601626 (3), Somatic mutation, Autosomal dominant; {Dyskeratosis congenita, autosomal recessive 4}, 613989 (3), Autosomal recessive, Autosomal dominant; {Dyskeratosis congenita, autosomal dominant 2}, 613989 (3), Autosomal recessive, Autosomal dominant |
TEX14 | chr17 | 17q22 | Spermatogenic failure 23, 617707 (3), Autosomal recessive |
TF | chr3 | 3q21 | Atransferrinemia, 209300 (3), Autosomal recessive |
TFAM | chr10 | 10q21 | ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156 (3), Autosomal recessive |
TFG | chr3 | 3q11-q12 | ?Spastic paraplegia 57, autosomal recessive, 615658 (3), Autosomal recessive; Hereditary motor and sensory neuropathy, Okinawa type, 604484 (3), Autosomal dominant |
TFR2 | chr7 | 7q22 | Hemochromatosis, type 3, 604250 (3), Autosomal recessive |
TFRC | chr3 | 3q29 | Immunodeficiency 46, 616740 (3), Autosomal recessive |
TG | chr8 | 8q24.2-q24.3 | {Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3); Thyroid dyshormonogenesis 3, 274700 (3), Autosomal recessive |
TGDS | chr13 | 13q32.1 | Catel-Manzke syndrome, 616145 (3), Autosomal recessive |
TGFB1 | chr19 | 19q13.1 | {Cystic fibrosis lung disease, modifier of}, 219700 (3), Autosomal recessive; Camurati-Engelmann disease, 131300 (3), Autosomal dominant; Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 (3), Autosomal recessive |
TGM1 | chr14 | 14q11.2 | Ichthyosis, congenital, autosomal recessive 1, 242300 (3), Autosomal recessive |
TGM5 | chr15 | 15q15.2 | Peeling skin syndrome 2, 609796 (3), Autosomal recessive |
TH | chr11 | 11p15.5 | Segawa syndrome, recessive, 605407 (3), Autosomal recessive |
THOC2 | chrX | Xq25 | Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive |
THOC6 | chr16 | 16p13.3 | Beaulieu-Boycott-Innes syndrome, 613680 (3), Autosomal recessive |
THRB | chr3 | 3p24.3 | Thyroid hormone resistance, 188570 (3), Autosomal dominant; Thyroid hormone resistance, selective pituitary, 145650 (3), Autosomal dominant; Thyroid hormone resistance, autosomal recessive, 274300 (3), Autosomal recessive |
TIA1 | chr2 | 2p13 | Welander distal myopathy, 604454 (3), Autosomal recessive, Autosomal dominant |
TICAM1 | chr19 | 19p13.3 | {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3), Autosomal recessive, Autosomal dominant |
TIMM8A | chrX | Xq22 | Mohr-Tranebjaerg syndrome, 304700 (3), X-linked recessive |
TJP2 | chr9 | 9q12-q13 | Cholestasis, progressive familial intrahepatic 4, 615878 (3), Autosomal recessive; Hypercholanemia, familial, 607748 (3), Autosomal recessive |
TK2 | chr16 | 16q22 | Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3), Autosomal recessive; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 (3), Autosomal recessive |
TLE6 | chr19 | 19p13.3 | Preimplantation embryonic lethality, 616814 (3), Autosomal recessive |
TLR3 | chr4 | 4q35 | {HIV1 infection, resistance to}, 609423 (3); {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3), Autosomal recessive, Autosomal dominant |
TMC1 | chr9 | 9q13-q21 | Deafness, autosomal recessive 7, 600974 (3), Autosomal recessive; Deafness, autosomal dominant 36, 606705 (3), Autosomal dominant |
TMC6 | chr17 | 17q25 | Epidermodysplasia verruciformis, 226400 (3), Autosomal recessive |
TMC8 | chr17 | 17q25 | Epidermodysplasia verruciformis 2, 618231 (3), Autosomal recessive |
TMCO1 | chr1 | 1q24.1 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3), Autosomal recessive |
TMEM126A | chr11 | 11q14.1-q21 | Optic atrophy 7, 612989 (3), Autosomal recessive |
TMEM138 | chr11 | 11q12.2 | Joubert syndrome 16, 614465 (3), Autosomal recessive |
TMEM165 | chr4 | 4q12 | Congenital disorder of glycosylation, type IIk, 614727 (3), Autosomal recessive |
TMEM216 | chr11 | 11q12.2 | Meckel syndrome 2, 603194 (3), Autosomal recessive; Joubert syndrome 2, 608091 (3), Autosomal recessive |
TMEM231 | chr16 | 16q23.1 | Meckel syndrome 11, 615397 (3), Autosomal recessive; Joubert syndrome 20, 614970 (3), Autosomal recessive |
TMEM237 | chr2 | 2q33.2 | Joubert syndrome 14, 614424 (3), Autosomal recessive |
TMEM67 | chr8 | 8q21.13-q22.1 | Meckel syndrome 3, 607361 (3), Autosomal recessive; ?RHYNS syndrome, 602152 (3), Autosomal recessive; Nephronophthisis 11, 613550 (3), Autosomal recessive; {Bardet-Biedl syndrome 14, modifier of}, 615991 (3), Autosomal recessive; COACH syndrome, 216360 (3), Autosomal recessive; Joubert syndrome 6, 610688 (3), Autosomal recessive |
TMEM70 | chr8 | 8q21.11 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3), Autosomal recessive |
TMIE | chr3 | 3p21 | Deafness, autosomal recessive 6, 600971 (3), Autosomal recessive |
TMLHE | chrX | Xq28 | {Autism, susceptibility to, X-linked 6}, 300872 (3), X-linked recessive |
TMPRSS15 | chr21 | 21q21 | Enterokinase deficiency, 226200 (3), Autosomal recessive |
TMPRSS3 | chr21 | 21q22.3 | Deafness, autosomal recessive 8/10, 601072 (3), Autosomal recessive |
TMPRSS6 | chr22 | 22q12-q13 | Iron-refractory iron deficiency anemia, 206200 (3), Autosomal recessive |
TMTC3 | chr12 | 12q21.32 | Lissencephaly 8, 617255 (3), Autosomal recessive |
TNFRSF10B | chr8 | 8p22-p21 | Squamous cell carcinoma, head and neck, 275355 (3), Autosomal recessive |
TNFRSF11A | chr18 | 18q22.1 | Osteolysis, familial expansile, 174810 (3), Autosomal dominant; {Paget disease of bone 2, early-onset}, 602080 (3), Autosomal dominant; Osteopetrosis, autosomal recessive 7, 612301 (3), Autosomal recessive |
TNFRSF11B | chr8 | 8q24 | Paget disease of bone 5, juvenile-onset, 239000 (3), Autosomal recessive |
TNFRSF13B | chr17 | 17p11.2 | Immunoglobulin A deficiency 2, 609529 (3); Immunodeficiency, common variable, 2, 240500 (3), Autosomal recessive, Autosomal dominant |
TNFRSF13C | chr22 | 22q13.1-q13.31 | Immunodeficiency, common variable, 4, 613494 (3), Autosomal recessive |
TNFRSF4 | chr1 | 1p36 | ?Immunodeficiency 16, 615593 (3), Autosomal recessive |
TNFSF11 | chr13 | 13q14 | Osteopetrosis, autosomal recessive 2, 259710 (3), Autosomal recessive |
TNNI3 | chr19 | 19q13.4 | Cardiomyopathy, hypertrophic, 7, 613690 (3), Autosomal dominant; ?Cardiomyopathy, dilated, 2A, 611880 (3), Autosomal recessive; Cardiomyopathy, dilated, 1FF, 613286 (3); Cardiomyopathy, familial restrictive, 1, 115210 (3), Autosomal dominant |
TNNT1 | chr19 | 19q13.4 | Nemaline myopathy 5, Amish type, 605355 (3), Autosomal recessive |
TNXB | chr6 | 6p21.3 | Ehlers-Danlos syndrome, classic-like, 1, 606408 (3), Autosomal recessive; Vesicoureteral reflux 8, 615963 (3), Autosomal dominant |
TOP3A | chr17 | 17p12-p11.2 | Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097 (3), Autosomal recessive; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 (3), Autosomal recessive |
TOR1AIP1 | chr1 | 1q24 | ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072 (3), Autosomal recessive |
TP53RK | chr20 | 20q13.12 | Galloway-Mowat syndrome 4, 617730 (3), Autosomal recessive |
TPI1 | chr12 | 12p13 | Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3), Autosomal recessive |
TPK1 | chr7 | 7q34 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3), Autosomal recessive |
TPM3 | chr1 | 1q22-q23 | CAP myopathy 1, 609284 (3), Autosomal recessive, Autosomal dominant; Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3), Autosomal recessive, Autosomal dominant; Myopathy, congenital, with fiber-type disproportion, 255310 (3), Autosomal recessive, Autosomal dominant |
TPMT | chr6 | 6p22.3 | {Thiopurines, poor metabolism of, 1}, 610460 (3), Autosomal recessive |
TPO | chr2 | 2p25 | Thyroid dyshormonogenesis 2A, 274500 (3), Autosomal recessive |
TPP1 | chr11 | 11p15.5 | Spinocerebellar ataxia, autosomal recessive 7, 609270 (3), Autosomal recessive; Ceroid lipofuscinosis, neuronal, 2, 204500 (3), Autosomal recessive |
TPRN | chr9 | 9q34.3 | Deafness, autosomal recessive 79, 613307 (3), Autosomal recessive |
TRAC | chr14 | 14q11.2 | Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3), Autosomal recessive |
TRAF3IP1 | chr2 | 2q37.3 | Senior-Loken syndrome 9, 616629 (3), Autosomal recessive |
TRAF3IP2 | chr6 | 6q21 | ?Candidiasis, familial, 8, 615527 (3), Autosomal recessive; {Psoriasis susceptibility 13}, 614070 (3) |
TRAK1 | chr3 | 3p25.3-p24.1 | Epileptic encephalopathy, early infantile, 68, 618201 (3), Autosomal recessive |
TRAPPC11 | chr4 | 4q35.1 | Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 (3), Autosomal recessive |
TRAPPC2 | chrX | Xp22.2-p22.1 | Spondyloepiphyseal dysplasia tarda, 313400 (3), X-linked recessive |
TRAPPC9 | chr8 | 8q24.3 | Mental retardation, autosomal recessive 13, 613192 (3), Autosomal recessive |
TRDN | chr6 | 6q22-q23 | Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3), Autosomal recessive |
TREH | chr11 | 11q23 | Trehalase deficiency, 612119 (3), Autosomal recessive |
TREM2 | chr6 | 6p21.2 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 (3), Autosomal dominant |
TREX1 | chr3 | 3p21.3-p21.2 | {Systemic lupus erythematosus, susceptibility to}, 152700 (3), Autosomal dominant; Vasculopathy, retinal, with cerebral leukodystrophy, 192315 (3), Autosomal dominant; Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3), Autosomal recessive, Autosomal dominant; Chilblain lupus, 610448 (3), Autosomal dominant |
TRH | chr3 | 3q13.3-q21 | Thyrotropin-releasing hormone deficiency, 275120 (1), Autosomal recessive |
TRHR | chr8 | 8q23 | Hypothyroidism, congenital, nongoitrous, 7, 618573 (3), Autosomal recessive |
TRIM2 | chr4 | 4q31.3 | Charcot-Marie-Tooth disease, type 2R, 615490 (3), Autosomal recessive |
TRIM32 | chr9 | 9q31-q34.1 | ?Bardet-Biedl syndrome 11, 615988 (3), Autosomal recessive; Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110 (3), Autosomal recessive |
TRIM37 | chr17 | 17q22-q23 | Mulibrey nanism, 253250 (3), Autosomal recessive |
TRIOBP | chr22 | 22q13.1 | Deafness, autosomal recessive 28, 609823 (3), Autosomal recessive |
TRIP11 | chr14 | 14q31-q32 | Osteochondrodysplasia, 184260 (3), Autosomal recessive; Achondrogenesis, type IA, 200600 (3), Autosomal recessive |
TRIP13 | chr5 | 5p15.33 | Mosaic variegated aneuploidy syndrome 3, 617598 (3), Autosomal recessive |
TRIT1 | chr1 | 1p34.2 | Combined oxidative phosphorylation deficiency 35, 617873 (3), Autosomal recessive |
TRMT1 | chr19 | 19p13.3 | Mental retardation, autosomal recessive 68, 618302 (3), Autosomal recessive |
TRMT10A | chr4 | 4q23 | Microcephaly, short stature, and impaired glucose metabolism 1, 616033 (3), Autosomal recessive |
TRMU | chr22 | 22q13 | Liver failure, transient infantile, 613070 (3), Autosomal recessive; {Deafness, mitochondrial, modifier of}, 580000 (3), Mitochondrial |
TRNT1 | chr3 | 3p25.1 | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3), Autosomal recessive; Retinitis pigmentosa and erythrocytic microcytosis, 616959 (3), Autosomal recessive |
TRPM1 | chr15 | 15q13-q14 | Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3) |
TRPM6 | chr9 | 9q22 | Hypomagnesemia 1, intestinal, 602014 (3), Autosomal recessive |
TSEN15 | chr1 | 1q25 | Pontocerebellar hypoplasia, type 2F, 617026 (3), Autosomal recessive |
TSEN2 | chr3 | 3p25.1 | Pontocerebellar hypoplasia type 2B, 612389 (3), Autosomal recessive |
TSEN34 | chr19 | 19q13.4 | ?Pontocerebellar hypoplasia type 2C, 612390 (3), Autosomal recessive |
TSEN54 | chr17 | 17q25.1 | Pontocerebellar hypoplasia type 4, 225753 (3), Autosomal recessive; Pontocerebellar hypoplasia type 2A, 277470 (3), Autosomal recessive; ?Pontocerebellar hypoplasia type 5, 610204 (3), Autosomal recessive |
TSFM | chr12 | 12q13-q14 | Combined oxidative phosphorylation deficiency 3, 610505 (3), Autosomal recessive |
TSHB | chr1 | 1p13 | Hypothyroidism, congenital, nongoitrous 4, 275100 (3), Autosomal recessive |
TSHR | chr14 | 14q31 | Thyroid adenoma, hyperfunctioning, somatic (3); Thyroid carcinoma with thyrotoxicosis (3); Hyperthyroidism, nonautoimmune, 609152 (3), Autosomal dominant; Hypothyroidism, congenital, nongoitrous, 1, 275200 (3), Autosomal recessive; Hyperthyroidism, familial gestational, 603373 (3) |
TSPAN7 | chrX | Xq11 | Mental retardation, X-linked 58, 300210 (3), X-linked recessive |
TSPEAR | chr21 | 21q22.3 | Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180 (3), Autosomal recessive; ?Deafness, autosomal recessive 98, 614861 (3), Autosomal recessive |
TSPYL1 | chr6 | 6q22-q23 | Sudden infant death with dysgenesis of the testes syndrome, 608800 (3), Autosomal recessive |
TSR2 | chrX | Xp11.22 | ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 (3), X-linked recessive |
TTC19 | chr17 | 17p12 | Mitochondrial complex III deficiency, nuclear type 2, 615157 (3), Autosomal recessive |
TTC21B | chr2 | 2q24.3 | Nephronophthisis 12, 613820 (3), Autosomal recessive, Autosomal dominant; Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3), Autosomal recessive |
TTC37 | chr5 | 5q15 | Trichohepatoenteric syndrome 1, 222470 (3), Autosomal recessive |
TTC7A | chr2 | 2p21 | Gastrointestinal defects and immunodeficiency syndrome, 243150 (3), Autosomal recessive |
TTC8 | chr14 | 14q32.1 | Bardet-Biedl syndrome 8, 615985 (3), Autosomal recessive; ?Retinitis pigmentosa 51, 613464 (3), Autosomal recessive |
TTI2 | chr8 | 8p12 | Mental retardation, autosomal recessive 39, 615541 (3), Autosomal recessive |
TTLL5 | chr14 | 14q24.3 | Cone-rod dystrophy 19, 615860 (3), Autosomal recessive |
TTN | chr2 | 2q31 | Myopathy, myofibrillar, 9, with early respiratory failure, 603689 (3), Autosomal dominant; Cardiomyopathy, familial hypertrophic, 9, 613765 (3), Autosomal dominant; Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3), Autosomal recessive; Cardiomyopathy, dilated, 1G, 604145 (3); Tibial muscular dystrophy, tardive, 600334 (3), Autosomal dominant; Salih myopathy, 611705 (3), Autosomal recessive |
TTPA | chr8 | 8q13.1-q13.3 | Ataxia with isolated vitamin E deficiency, 277460 (3), Autosomal recessive |
TUB | chr11 | 11p15.4 | ?Retinal dystrophy and obesity, 616188 (3), Autosomal recessive |
TUBA1A | chr12 | 12q12-q14 | Lissencephaly 3, 611603 (3), Autosomal dominant |
TUBA8 | chr22 | 22q11 | Cortical dysplasia, complex, with other brain malformations 8, 613180 (3), Autosomal recessive |
TUBGCP4 | chr15 | 15q15 | Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3), Autosomal recessive |
TUBGCP6 | chr22 | 22q13.33 | Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3), Autosomal recessive |
TUFM | chr16 | 16p11.2 | Combined oxidative phosphorylation deficiency 4, 610678 (3), Autosomal recessive |
TULP1 | chr6 | 6p21.3 | Retinitis pigmentosa 14, 600132 (3), Autosomal recessive; Leber congenital amaurosis 15, 613843 (3), Autosomal recessive |
TUSC3 | chr8 | 8p22 | Mental retardation, autosomal recessive 7, 611093 (3), Autosomal recessive |
TWIST2 | chr2 | 2q37.3 | Focal facial dermal dysplasia 3, Setleis type, 227260 (3), Autosomal recessive; Ablepharon-macrostomia syndrome, 200110 (3), Autosomal dominant; Barber-Say syndrome, 209885 (3), Autosomal dominant |
TWNK | chr10 | 10q24 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3), Autosomal recessive; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 (3), Autosomal dominant; Perrault syndrome 5, 616138 (3), Autosomal recessive |
TXN2 | chr22 | 22q12.3 | ?Combined oxidative phosphorylation deficiency 29, 616811 (3), Autosomal recessive |
TXNL4A | chr18 | 18q23 | Burn-McKeown syndrome, 608572 (3), Autosomal recessive |
TXNRD2 | chr22 | 22q11.2 | ?Glucocorticoid deficiency 5, 617825 (3), Autosomal recessive |
TYK2 | chr19 | 19p13.2 | Immunodeficiency 35, 611521 (3), Autosomal recessive |
TYMP | chr22 | 22q13.32-qter | Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3), Autosomal recessive |
TYR | chr11 | 11q14-q21 | Waardenburg syndrome/albinism, digenic, 103470 (3); Albinism, oculocutaneous, type IB, 606952 (3), Autosomal recessive; [Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (3), Autosomal dominant; {Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 (3), Autosomal dominant; Albinism, oculocutaneous, type IA, 203100 (3), Autosomal recessive; [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 (3), Autosomal dominant |
TYROBP | chr19 | 19q13.1 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 (3), Autosomal recessive |
TYRP1 | chr9 | 9p23 | [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271 (3); Albinism, oculocutaneous, type III, 203290 (3), Autosomal recessive |
UBA1 | chrX | Xp11.23 | Spinal muscular atrophy, X-linked 2, infantile, 301830 (3), X-linked recessive |
UBE2A | chrX | Xq24 | Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3), X-linked recessive |
UBE2T | chr1 | 1q31 | Fanconi anemia, complementation group T, 616435 (3), Autosomal recessive |
UBE3A | chr15 | 15q11-q13 | Angelman syndrome, 105830 (3), Autosomal dominant |
UBE3B | chr12 | 12q24.11 | Kaufman oculocerebrofacial syndrome, 244450 (3), Autosomal recessive |
UBR1 | chr15 | 15q15-q21.1 | Johanson-Blizzard syndrome, 243800 (3), Autosomal recessive |
UCHL1 | chr4 | 4p14 | Spastic paraplegia 79, autosomal recessive, 615491 (3), Autosomal recessive; {?Parkinson disease 5, susceptibility to}, 613643 (3), Autosomal dominant |
UCP3 | chr11 | 11q13 | {Obesity, severe, and type II diabetes}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant |
UGT1A1 | chr2 | 2q37 | [Gilbert syndrome], 143500 (3), Autosomal recessive; Hyperbilirubinemia, familial transient neonatal, 237900 (3), Autosomal recessive; Crigler-Najjar syndrome, type I, 218800 (3), Autosomal recessive; Crigler-Najjar syndrome, type II, 606785 (3), Autosomal recessive; [Bilirubin, serum level of, QTL1], 601816 (3) |
UMPS | chr3 | 3q13 | Orotic aciduria, 258900 (3), Autosomal recessive |
UNC13D | chr17 | 17q25.1 | Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3), Autosomal recessive |
UNC80 | chr2 | 2q35 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3), Autosomal recessive |
UNC93B1 | chr11 | 11q13 | {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (3) |
UNG | chr12 | 12q23-q24.1 | Immunodeficiency with hyper IgM, type 5, 608106 (3), Autosomal recessive |
UPB1 | chr22 | 22q11.2 | Beta-ureidopropionase deficiency, 613161 (3), Autosomal recessive |
UPF3B | chrX | Xq25-q26 | Mental retardation, X-linked, syndromic 14, 300676 (3), X-linked recessive |
UQCRB | chr8 | 8q22 | Mitochondrial complex III deficiency, nuclear type 3, 615158 (3), Autosomal recessive |
UQCRC2 | chr16 | 16p12 | Mitochondrial complex III deficiency, nuclear type 5, 615160 (3), Autosomal recessive |
UQCRFS1 | chr19 | 19q12 | Mitochondrial complex III deficiency, nuclear type 10, 618775 (3), Autosomal recessive |
UQCRQ | chr5 | 5q31.1 | Mitochondrial complex III deficiency, nuclear type 4, 615159 (3), Autosomal recessive |
UROC1 | chr3 | 3q21.3 | ?Urocanase deficiency, 276880 (3), Autosomal recessive |
UROD | chr1 | 1p34 | Porphyria, hepatoerythropoietic, 176100 (3), Autosomal recessive, Autosomal dominant; Porphyria cutanea tarda, 176100 (3), Autosomal recessive, Autosomal dominant |
UROS | chr10 | 10q25.2-q26.3 | Porphyria, congenital erythropoietic, 263700 (3), Autosomal recessive |
USB1 | chr16 | 16q13 | Poikiloderma with neutropenia, 604173 (3), Autosomal recessive |
USH1C | chr11 | 11p15.1 | Deafness, autosomal recessive 18A, 602092 (3), Autosomal recessive; Usher syndrome, type 1C, 276904 (3), Autosomal recessive |
USH1G | chr17 | 17q24-q25 | Usher syndrome, type 1G, 606943 (3), Autosomal recessive |
USH2A | chr1 | 1q41 | Retinitis pigmentosa 39, 613809 (3); Usher syndrome, type 2A, 276901 (3), Autosomal recessive |
USP27X | chrX | Xp11.2 | Mental retardation, X-linked 105, 300984 (3), X-linked recessive |
USP9X | chrX | Xp11.4 | Mental retardation, X-linked 99, 300919 (3), X-linked recessive; Mental retardation, X-linked 99, syndromic, female-restricted, 300968 (3), X-linked dominant |
UVSSA | chr4 | 4p16.3 | UV-sensitive syndrome 3, 614640 (3), Autosomal recessive |
VAMP1 | chr12 | 12p13.31 | Spastic ataxia 1, autosomal dominant, 108600 (3), Autosomal dominant; Myasthenic syndrome, congenital, 25, 618323 (3), Autosomal recessive |
VARS2 | chr6 | 6p21.3 | Combined oxidative phosphorylation deficiency 20, 615917 (3), Autosomal recessive |
VAX1 | chr10 | 10q26.1 | ?Microphthalmia, syndromic 11, 614402 (3), Autosomal recessive |
VDR | chr12 | 12q12-q14 | Rickets, vitamin D-resistant, type IIA, 277440 (3), Autosomal recessive |
VHL | chr3 | 3p26-p25 | Pheochromocytoma, 171300 (3), Autosomal dominant; Erythrocytosis, familial, 2, 263400 (3), Autosomal recessive; von Hippel-Lindau syndrome, 193300 (3), Autosomal dominant; Renal cell carcinoma, somatic, 144700 (3); Hemangioblastoma, cerebellar, somatic (3) |
VIPAS39 | chr14 | 14q24.3 | Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3), Autosomal recessive |
VLDLR | chr9 | 9p24 | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3), Autosomal recessive |
VMA21 | chrX | Xq28 | Myopathy, X-linked, with excessive autophagy, 310440 (3), X-linked recessive |
VPS13A | chr9 | 9q21 | Choreoacanthocytosis, 200150 (3), Autosomal recessive |
VPS13B | chr8 | 8q22-q23 | Cohen syndrome, 216550 (3), Autosomal recessive |
VPS33B | chr15 | 15q26.1 | Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3), Autosomal recessive |
VPS37A | chr8 | 8p23-p21 | Spastic paraplegia 53, autosomal recessive, 614898 (3), Autosomal recessive |
VPS45 | chr1 | 1q21-q22 | Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3), Autosomal recessive |
VPS53 | chr17 | 17p13.3 | Pontocerebellar hypoplasia, type 2E, 615851 (3), Autosomal recessive |
VRK1 | chr14 | 14q32 | Pontocerebellar hypoplasia type 1A, 607596 (3), Autosomal recessive |
VSX2 | chr14 | 14q24.3 | Microphthalmia with coloboma 3, 610092 (3); Microphthalmia, isolated 2, 610093 (3) |
VWA3B | chr2 | 2q11.2 | ?Spinocerebellar ataxia, autosomal recessive 22, 616948 (3), Autosomal recessive |
VWF | chr12 | 12p13.3 | von Willebrand disease, type 1, 193400 (3), Autosomal dominant; von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3), Autosomal recessive, Autosomal dominant; von Willibrand disease, type 3, 277480 (3), Autosomal recessive |
WAS | chrX | Xp11.23-p11.22 | Thrombocytopenia, X-linked, intermittent, 313900 (3), X-linked recessive; Thrombocytopenia, X-linked, 313900 (3), X-linked recessive; Wiskott-Aldrich syndrome, 301000 (3), X-linked recessive; Neutropenia, severe congenital, X-linked, 300299 (3), X-linked recessive |
WASHC4 | chr12 | 12q23.3 | ?Mental retardation, autosomal recessive 43, 615817 (3), Autosomal recessive |
WASHC5 | chr8 | 8q24.13 | Ritscher-Schinzel syndrome 1, 220210 (3), Autosomal recessive; Spastic paraplegia 8, autosomal dominant, 603563 (3), Autosomal dominant |
WDPCP | chr2 | 2p15 | ?Bardet-Biedl syndrome 15, 615992 (3), Autosomal recessive; ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 (3), Autosomal recessive |
WDR19 | chr4 | 4p14-p11 | Nephronophthisis 13, 614377 (3), Autosomal recessive; Senior-Loken syndrome 8, 616307 (3), Autosomal recessive; ?Cranioectodermal dysplasia 4, 614378 (3), Autosomal recessive; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3), Autosomal recessive |
WDR35 | chr2 | 2p24.1 | Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3), Autosomal recessive; Cranioectodermal dysplasia 2, 613610 (3), Autosomal recessive |
WDR4 | chr21 | 21q22.3 | Microcephaly, growth deficiency, seizures, and brain malformations, 618346 (3), Autosomal recessive; Galloway-Mowat syndrome 6, 618347 (3), Autosomal recessive |
WDR45B | chr17 | 17q25.3 | Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 (3), Autosomal recessive |
WDR62 | chr19 | 19q13.12 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3), Autosomal recessive |
WDR72 | chr15 | 15q21.3 | Amelogenesis imperfecta, type IIA3, 613211 (3), Autosomal recessive |
WDR73 | chr15 | 15q25.2 | Galloway-Mowat syndrome 1, 251300 (3), Autosomal recessive |
WDR81 | chr17 | 17p13.3 | Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3), Autosomal recessive; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3), Autosomal recessive |
WFS1 | chr4 | 4p16.1 | ?Cataract 41, 116400 (3), Autosomal dominant; Deafness, autosomal dominant 6/14/38, 600965 (3), Autosomal dominant; {Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3), Autosomal dominant; Wolfram-like syndrome, autosomal dominant, 614296 (3), Autosomal dominant; Wolfram syndrome 1, 222300 (3), Autosomal recessive |
WHRN | chr9 | 9q32-q34 | Deafness, autosomal recessive 31, 607084 (3), Autosomal recessive; Usher syndrome, type 2D, 611383 (3), Autosomal recessive |
WNK1 | chr12 | 12p13 | Pseudohypoaldosteronism, type IIC, 614492 (3), Autosomal dominant; Neuropathy, hereditary sensory and autonomic, type II, 201300 (3), Autosomal recessive |
WNT1 | chr12 | 12q12-q13 | {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 (3); Osteogenesis imperfecta, type XV, 615220 (3), Autosomal recessive |
WNT10A | chr2 | 2q35 | Schopf-Schulz-Passarge syndrome, 224750 (3), Autosomal recessive; Tooth agenesis, selective, 4, 150400 (3), Autosomal recessive, Autosomal dominant; Odontoonychodermal dysplasia, 257980 (3), Autosomal recessive |
WNT10B | chr12 | 12q13 | Split-hand/foot malformation 6, 225300 (3), Autosomal recessive; Tooth agenesis, selective, 8, 617073 (3), Autosomal dominant |
WNT3 | chr17 | 17q21 | ?Tetra-amelia syndrome 1, 273395 (3), Autosomal recessive |
WNT4 | chr1 | 1p35 | ?SERKAL syndrome, 611812 (3), Autosomal recessive; Mullerian aplasia and hyperandrogenism, 158330 (3), Autosomal dominant |
WNT7A | chr3 | 3p25 | Fuhrmann syndrome, 228930 (3), Autosomal recessive; Ulna and fibula, absence of, with severe limb deficiency, 276820 (3), Autosomal recessive |
WRAP53 | chr17 | 17p13 | Dyskeratosis congenita, autosomal recessive 3, 613988 (3), Autosomal recessive |
WRN | chr8 | 8p12-p11.2 | Werner syndrome, 277700 (3), Autosomal recessive |
WWOX | chr16 | 16q23.3-q24.1 | Spinocerebellar ataxia, autosomal recessive 12, 614322 (3), Autosomal recessive; Epileptic encephalopathy, early infantile, 28, 616211 (3), Autosomal recessive; Esophageal squamous cell carcinoma, somatic, 133239 (3) |
XDH | chr2 | 2p23-p22 | Xanthinuria, type I, 278300 (3), Autosomal recessive |
XIAP | chrX | Xq25 | Lymphoproliferative syndrome, X-linked, 2, 300635 (3), X-linked recessive |
XPA | chr9 | 9q22.3 | Xeroderma pigmentosum, group A, 278700 (3), Autosomal recessive |
XPC | chr3 | 3p25 | Xeroderma pigmentosum, group C, 278720 (3), Autosomal recessive |
XPNPEP3 | chr22 | 22q13.31-q13.33 | Nephronophthisis-like nephropathy 1, 613159 (3), Autosomal recessive |
XRCC1 | chr19 | 19q13.2 | ?Spinocerebellar ataxia, autosomal recessive 26, 617633 (3), Autosomal recessive |
XRCC2 | chr7 | 7q36.1 | ?Fanconi anemia, complementation group U, 617247 (3), Autosomal recessive |
XRCC4 | chr5 | 5q13-q14 | Short stature, microcephaly, and endocrine dysfunction, 616541 (3), Autosomal recessive |
XYLT1 | chr16 | 16p13.1 | {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3), Autosomal recessive; Desbuquois dysplasia 2, 615777 (3), Autosomal recessive |
XYLT2 | chr17 | 17q21.3-q22 | {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3), Autosomal recessive; Spondyloocular syndrome, 605822 (3), Autosomal recessive |
YARS2 | chr12 | 12p11.21 | Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3), Autosomal recessive |
ZAP70 | chr2 | 2q12 | Autoimmune disease, multisystem, infantile-onset, 2, 617006 (3), Autosomal recessive; Immunodeficiency 48, 269840 (3), Autosomal recessive |
ZBTB11 | chr3 | 3q12.3 | Intellectual developmental disorder, autosomal recessive 69, 618383 (3), Autosomal recessive |
ZBTB16 | chr11 | 11q23.1 | Skeletal defects, genital hypoplasia, and mental retardation, 612447 (3), Autosomal recessive; Leukemia, acute promyelocytic, PL2F/RARA type (3) |
ZBTB24 | chr6 | 6q21 | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, 614069 (3), Autosomal recessive |
ZBTB42 | chr14 | 14q32.33 | ?Lethal congenital contracture syndrome 6, 616248 (3), Autosomal recessive |
ZC3H14 | chr14 | 14q31.3 | Mental retardation, autosomal recessive 56, 617125 (3), Autosomal recessive |
ZC4H2 | chrX | Xq11.2 | Wieacker-Wolff syndrome, 314580 (3), X-linked recessive; Wieacker-Wolff syndrome, female-restricted, 301041 (3), X-linked dominant |
ZDHHC9 | chrX | Xq26.1 | Mental retardation, X-linked syndromic, Raymond type, 300799 (3), X-linked |
ZEB2 | chr2 | 2q22 | Mowat-Wilson syndrome, 235730 (3), Autosomal dominant |
ZFYVE26 | chr14 | 14q24.1 | Spastic paraplegia 15, autosomal recessive, 270700 (3), Autosomal recessive |
ZIC3 | chrX | Xq26.2 | Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3), X-linked recessive; Heterotaxy, visceral, 1, X-linked, 306955 (3), X-linked recessive; VACTERL association, X-linked, 314390 (3), X-linked recessive |
ZMPSTE24 | chr1 | 1p34 | Restrictive dermopathy, lethal, 275210 (3), Autosomal recessive; Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3), Autosomal recessive |
ZMYND10 | chr3 | 3p21.3 | Ciliary dyskinesia, primary, 22, 615444 (3), Autosomal recessive |
ZMYND15 | chr17 | 17p13.2 | ?Spermatogenic failure 14, 615842 (3), Autosomal recessive |
ZNF141 | chr4 | 4p16.3 | ?Polydactyly, postaxial, type A6, 615226 (3), Autosomal recessive |
ZNF335 | chr20 | 20q11.2-q13.1 | Microcephaly 10, primary, autosomal recessive, 615095 (3), Autosomal recessive |
ZNF408 | chr11 | 11p11.2 | ?Exudative vitreoretinopathy 6, 616468 (3), Autosomal dominant; Retinitis pigmentosa 72, 616469 (3), Autosomal recessive |
ZNF41 | chrX | Xp22.1-cen | |
ZNF423 | chr16 | 16q12 | Nephronophthisis 14, 614844 (3), Autosomal recessive, Autosomal dominant; Joubert syndrome 19, 614844 (3), Autosomal recessive, Autosomal dominant |
ZNF469 | chr16 | 16q24 | Brittle cornea syndrome 1, 229200 (3), Autosomal recessive |
ZNF513 | chr2 | 2p24.1-p22.3 | ?Retinitis pigmentosa 58, 613617 (3), Autosomal recessive |
ZNF674 | chrX | Xp11 | |
ZNF711 | chrX | Xq21.1-q21.3 | Mental retardation, X-linked 97, 300803 (3), X-linked |
ZP1 | chr11 | 11q12.2 | Oocyte maturation defect 1, 615774 (3), Autosomal recessive |