Dataset | ## OMIM GENES & DISORDERS LIST

## OMIM GENES & DISORDERS LIST


A2M	103950	{Alzheimer disease, susceptibility to}, 104300 (3)
A4GALT	607922	[Blood group, P system], 111400 (3)
AAAS	605378	Achalasia-addisonianism-alacrimia syndrome, 231550 (3)
AANAT	600950	{Delayed sleep phase syndrome, susceptibility to}, 614163 (3)
AARS2	612035	Combined oxidative phosphorylation deficiency 8, 614096 (3)
AASS	605113	Hyperlysinemia, 238700 (3)
ABAT	137150	GABA-transaminase deficiency, 613163 (3)
ABCA1	600046	HDL deficiency, type 2, 604091 (3)
ABCA1	600046	Tangier disease, 205400 (3)
ABCA1	600046	{Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3)
ABCA12	607800	Ichthyosis, harlequin, 242500 (3)
ABCA12	607800	Ichthyosis, lamellar 2, 601277 (3)
ABCA3	601615	Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
ABCA4	601691	Cone-rod dystrophy 3, 604116 (3)
ABCA4	601691	Fundus flavimaculatus, 248200 (3)
ABCA4	601691	Macular degeneration, age-related, 2, 153800 (3)
ABCA4	601691	Retinal dystrophy, early-onset severe, 248200 (3)
ABCA4	601691	Retinitis pigmentosa 19, 601718 (3)
ABCA4	601691	Stargardt disease 1, 248200 (3)
ABCB1	171050	Colchicine resistance (3)
ABCB1	171050	{Inflammatory bowel disease 13}, 612244 (3)
ABCB11	603201	Cholestasis, benign recurrent intrahepatic, 2, 605479 (3)
ABCB11	603201	Cholestasis, progressive familial intrahepatic 2, 601847 (3)
ABCB4	171060	Cholestasis, familial intrahepatic, of pregnancy, 147480 (3)
ABCB4	171060	Cholestasis, progressive familial intrahepatic 3, 602347 (3)
ABCB4	171060	Gallbladder disease 1, 600803 (3)
ABCB6	605452	Microphthalmia, isolated, with coloboma 7, 614497 (3)
ABCB6	605452	[Blood group, Langereis system], 111600 (3)
ABCB7	300135	Anemia, sideroblastic, with ataxia, 301310 (3)
ABCC11	607040	[Axillary odor, variation in], 117800 (3)
ABCC11	607040	[Colostrum secretion, variation in], 117800 (3)
ABCC11	607040	[Earwax, wet/dry], 117800 (3)
ABCC2	601107	Dubin-Johnson syndrome, 237500 (3)
ABCC6	603234	Arterial calcification, generalized, of infancy, 2, 614473 (3)
ABCC6	603234	Pseudoxanthoma elasticum, 264800 (3)
ABCC6	603234	Pseudoxanthoma elasticum, forme fruste, 177850 (3)
ABCC8	600509	Diabetes mellitus, noninsulin-dependent, 125853 (3)
ABCC8	600509	Diabetes mellitus, permanent neonatal, 606176 (3)
ABCC8	600509	Diabetes mellitus, transient neonatal 2, 610374 (3)
ABCC8	600509	Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)
ABCC8	600509	Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
ABCC9	601439	Atrial fibrillation, familial, 12, 614050 (3)
ABCC9	601439	Cardiomyopathy, dilated, 1O, 608569 (3)
ABCD1	300371	Adrenoleukodystrophy, 300100 (3)
ABCD1	300371	Adrenomyeloneuropathy, 300100 (3)
ABCD3	170995	Zellweger syndrome-2 (3)
ABCG2	603756	[Junior blood group system], 614490 (3)
ABCG2	603756	[Uric acid concentration, serum, QTL1], 138900 (3)
ABCG5	605459	Sitosterolemia, 210250 (3)
ABCG8	605460	Gallbladder disease 4, 611465 (3)
ABCG8	605460	Sitosterolemia, 210250 (3)
ABHD12	613599	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3)
ABHD5	604780	Chanarin-Dorfman syndrome, 275630 (3)
ABL1	189980	Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)
ABO	110300	[Blood group, ABO system] (3)
ACAD8	604773	Isobutyryl-CoA dehydrogenase deficiency, 611283 (3)
ACAD9	611103	ACAD9 deficiency, 611126 (3)
ACADM	607008	Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3)
ACADS	606885	Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ACADSB	600301	2-methylbutyrylglycinuria, 610006 (3)
ACADVL	609575	VLCAD deficiency, 201475 (3)
ACAN	155760	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800 (3)
ACAN	155760	Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3)
ACAN	155760	Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3)
ACAT1	607809	Alpha-methylacetoacetic aciduria, 203750 (3)
ACE	106180	Renal tubular dysgenesis, 267430 (3)
ACE	106180	[Angiotensin I-converting enzyme, benign serum increase] (3)
ACE	106180	{Alzheimer disease, susceptibility to}, 104300 (3)
ACE	106180	{Microvascular complications of diabetes 3}, 612624 (3)
ACE	106180	{Myocardial infarction, susceptibility to} (3)
ACE	106180	{SARS, progression of} (3)
ACE	106180	{Stroke, hemorrhagic}, 614519 (3)
ACHE	100740	[Blood group, Yt system], 112100 (3)
ACO2	100850	Infantile cerebellar-retinal degeneration, 614559 (3)
ACOX1	609751	Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
ACP5	171640	Spondyloenchondrodysplasia with immune dysregulation, 607944 (3)
ACSF3	614245	Combined malonic and methylmalonic aciduria, 614265 (3)
ACSL4	300157	Mental retardation, X-linked 63, 300387 (3)
ACSL6	604443	Myelodysplastic syndrome (3)
ACSL6	604443	Myelogenous leukemia, acute (3)
ACTA1	102610	Myopathy, actin, congenital, with cores (3)
ACTA1	102610	Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3)
ACTA1	102610	Myopathy, congenital, with fiber-type disproportion 1, 255310 (3)
ACTA1	102610	Myopathy, nemaline, 3, 161800 (3)
ACTA2	102620	Aortic aneurysm, familial thoracic 6, 611788 (3)
ACTA2	102620	Moyamoya disease 5, 614042 (3)
ACTA2	102620	Multisystemic smooth muscle dysfunction syndrome, 613834 (3)
ACTB	102630	Dystonia, juvenile-onset, 607371 (3)
ACTC1	102540	Atrial septal defect 5, 612794 (3)
ACTC1	102540	Cardiomyopathy, dilated, 1R, 613424 (3)
ACTC1	102540	Cardiomyopathy, familial hypertrophic, 11, 612098 (3)
ACTC1	102540	Left ventricular noncompaction 4, 613424 (3)
ACTG1	102560	Deafness, autosomal dominant 20/26, 604717 (3)
ACTN2	102573	Cardiomyopathy, dilated, 1AA, 612158 (3)
ACTN3	102574	[Alpha-actinin-3 deficiency] (3)
ACTN3	102574	[Sprinting performance] (3)
ACTN4	604638	Glomerulosclerosis, focal segmental, 1, 603278 (3)
ACVR1	102576	Fibrodysplasia ossificans progressiva, 135100 (3)
ACVR1B	601300	Pancreatic cancer, somatic (3)
ACVR2B	602730	Heterotaxy, visceral, 4, autosomal, 613751 (3)
ACVRL1	601284	Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3)
ACY1	104620	Aminoacylase 1 deficiency, 609924 (3)
ADA	608958	Adenosine deaminase deficiency, partial, 102700 (3)
ADA	608958	Severe combined immunodeficiency due to ADA deficiency, 102700 (3)
ADAM17	603639	Inflammatory skin and bowel disease, neonatal, 614328 (3)
ADAM9	602713	Cone-rod dystrophy 9, 612775 (3)
ADAMTS10	608990	Weill-Marchesani syndrome 1, recessive, 277600 (3)
ADAMTS13	604134	Thrombotic thrombocytopenic purpura, familial, 274150 (3)
ADAMTS17	607511	Weill-Marchesani-like syndrome, 613195 (3)
ADAMTS18	607512	Knobloch syndrome 2, 608454 (3)
ADAMTS2	604539	Ehlers-Danlos syndrome, type VIIC, 225410 (3)
ADAMTSL2	612277	Geleophysic dysplasia 1, 231050 (3)
ADAMTSL4	610113	Ectopia lentis, isolated, autosomal recessive, 225100 (3)
ADAR	146920	Dyschromatosis symmetrica hereditaria, 127400 (3)
ADCK3	606980	Coenzyme Q10 deficiency, 607426 (3)
ADCK3	606980	Spinocerebellar ataxia, autosomal recessive 9, 612016 (3)
ADCY10	605205	{Hypercalciuria, absorptive, susceptibility to}, 143870 (3)
ADD1	102680	{Hypertension, essential, salt-sensitive}, 145500 (3)
ADH1B	103720	{Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} (3)
ADH1B	103720	{Alcohol dependence, protection against}, 103780 (3)
ADH1C	103730	{Alcohol dependence, protection against}, 103780 (3)
ADH1C	103730	{Parkinson disease, susceptibility to}, 168600 (3)
ADIPOQ	605441	Adiponectin deficiency, 612556 (3)
ADK	102750	Hypermethioninemia due to adenosine kinase deficiency, 614300 (3)
ADRA2C	104250	{Congestive heart failure and beta-blocker response, modifier of} (3)
ADRB1	109630	[Resting heart rate], 607276 (3)
ADRB1	109630	{Congestive heart failure and beta-blocker response, modifier of} (3)
ADRB2	109690	Beta-2-adrenoreceptor agonist, reduced response to (3)
ADRB2	109690	{Asthma, nocturnal, susceptibility to}, 600807 (3)
ADRB2	109690	{Obesity, susceptibility to}, 601665 (3)
ADRB3	109691	{Obesity, susceptibility to}, 601665 (3)
ADSL	608222	Adenylosuccinase deficiency, 103050 (3)
AFF2	300806	Mental retardation, X-linked, FRAXE type, 309548 (3)
AFG3L2	604581	Ataxia, spastic, 5, autosomal recessive, 614487 (3)
AFG3L2	604581	Spinocerebellar ataxia 28, 610246 (3)
AFP	104150	[Hereditary persistence of alpha-fetoprotein] (3)
AGA	613228	Aspartylglucosaminuria, 208400 (3)
AGK	610345	Sengers syndrome, 212350 (3)
AGL	610860	Glycogen storage disease IIIa, 232400 (3)
AGL	610860	Glycogen storage disease IIIb, 232400 (3)
AGPAT2	603100	Lipodystrophy, congenital generalized, type 1, 608594 (3)
AGPS	603051	Rhizomelic chondrodysplasia punctata, type 3, 600121 (3)
AGRN	103320	Myasthenia, limb-girdle, familial, 254300 (3)
AGRP	602311	{Leanness, inherited} (3)
AGRP	602311	{Obesity, late-onset}, 601665 (3)
AGT	106150	Renal tubular dysgenesis, 267430 (3)
AGT	106150	{Hypertension, essential, susceptibility to}, 145500 (3)
AGT	106150	{Preeclampsia, susceptibility to} (3)
AGTR1	106165	Hypertension, essential, 145500 (3)
AGTR1	106165	Renal tubular dysgenesis, 267430 (3)
AGTR2	300034	Mental retardation, X-linked 88, 300852 (3)
AGXT	604285	Hyperoxaluria, primary, type 1, 259900 (3)
AHCY	180960	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3)
AHI1	608894	Joubert syndrome-3, 608629 (3)
AICDA	605257	Immunodeficiency with hyper-IgM, type 2, 605258 (3)
AIFM1	300169	Combined oxidative phosphorylation deficiency 6, 300816 (3)
AIMP1	603605	Leukodystrophy, hypomyelinating, 3, 260600 (3)
AIP	605555	Pituitary adenoma, ACTH-secreting, 219090 (3)
AIP	605555	Pituitary adenoma, growth hormone-secreting, 102200 (3)
AIP	605555	Pituitary adenoma, prolactin-secreting, 600634 (3)
AIPL1	604392	Cone-rod dystrophy (3)
AIPL1	604392	Leber congenital amaurosis 4, 604393 (3)
AIPL1	604392	Retinitis pigmentosa, juvenile (3)
AIRE	607358	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3)
AK1	103000	Hemolytic anemia due to adenylate kinase deficiency, 612631 (3)
AK2	103020	Reticular dysgenesis, 267500 (3)
AKAP10	604694	{Cardiac conduction defect, susceptibility to}, 115080 (3)
AKAP9	604001	Long QT syndrome-11, 611820 (3)
AKR1C2	600450	46XY sex reversal 8, 614279 (3)
AKR1C2	600450	Obesity, hyperphagia, and developmental delay (3)
AKR1C4	600451	{46XY sex reversal 8, modifier of}, 614279 (3)
AKR1D1	604741	Bile acid synthesis defect, congenital, 2, 235555 (3)
AKT1	164730	Breast cancer, somatic, 114480 (3)
AKT1	164730	Colorectal cancer, somatic, 114500 (3)
AKT1	164730	Ovarian cancer, somatic, 167000 (3)
AKT1	164730	Proteus syndrome, somatic, 176920 (3)
AKT2	164731	Diabetes mellitus, type II, 125853 (3)
AKT2	164731	Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 (3)
ALAD	125270	Porphyria, acute hepatic, 612740 (3)
ALAD	125270	{Lead poisoning, susceptibility to}, 612740 (3)
ALAS2	301300	Anemia, sideroblastic, X-linked, 300751 (3)
ALAS2	301300	Protoporphyria, erythropoietic, X-linked, 300752 (3)
ALB	103600	Analbuminemia (3)
ALB	103600	[Dysalbuminemic hyperthyroxinemia] (3)
ALDH18A1	138250	Cutis laxa, autosomal recessive, type IIIA, 219150 (3)
ALDH2	100650	Alcohol sensitivity, acute, 610251 (3)
ALDH2	100650	{Esophageal cancer, alcohol-related, susceptibility to} (3)
ALDH2	100650	{Hangover, susceptibility to}, 610251 (3)
ALDH2	100650	{Sublingual nitroglycerin, susceptibility to poor response to} (3)
ALDH3A2	609523	Sjogren-Larsson syndrome, 270200 (3)
ALDH4A1	606811	Hyperprolinemia, type II, 239510 (3)
ALDH5A1	610045	Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
ALDH6A1	603178	Methylmalonate semialdehyde dehydrogenase deficiency, 614105 (3)
ALDH7A1	107323	Epilepsy, pyridoxine-dependent, 266100 (3)
ALDOA	103850	Glycogen storage disease XII, 611881 (3)
ALDOB	612724	Fructose intolerance, 229600 (3)
ALG1	605907	Congenital disorder of glycosylation, type Ik, 608540 (3)
ALG10	603313	{Acquired long QT syndrome, reduced susceptibility to}, 613688 (3)
ALG11	613666	Congenital disorder of glycosylation, type Ip, 613661 (3)
ALG12	607144	Congenital disorder of glycosylation, type Ig, 607143 (3)
ALG2	607905	Congenital disorder of glycosylation, type Ii, 607906 (3)
ALG3	608750	Congenital disorder of glycosylation, type Id, 601110 (3)
ALG6	604566	Congenital disorder of glycosylation, type Ic, 603147 (3)
ALG8	608103	Congenital disorder of glycosylation, type Ih, 608104 (3)
ALG9	606941	Congenital disorder of glycosylation, type Il, 608776 (3)
ALK	105590	{Neuroblastoma, susceptibility to, 3}, 613014 (3)
ALMS1	606844	Alstrom syndrome, 203800 (3)
ALOX12B	603741	Ichthyosiform erythroderma, congenital, nonbullous, 1, 242100 (3)
ALOX5	152390	{Asthma, diminished response to antileukotriene treatment in}, 600807 (3)
ALOX5	152390	{Atherosclerosis, susceptibility to} (3)
ALOX5AP	603700	{Stroke, susceptibility to}, 601367 (3)
ALOXE3	607206	Ichthyosiform erythroderma, congenital, nonbullous, 1, 242100 (3)
ALPL	171760	Hypophosphatasia, adult, 146300 (3)
ALPL	171760	Hypophosphatasia, childhood, 241510 (3)
ALPL	171760	Hypophosphatasia, infantile, 241500 (3)
ALPL	171760	Odontohypophosphatasia, 146300 (3)
ALS2	606352	Amyotrophic lateral sclerosis, juvenile, 205100 (3)
ALS2	606352	Primary lateral sclerosis, juvenile, 606353 (3)
ALS2	606352	Spastic paralysis, infantile onset ascending, 607225 (3)
ALX1	601527	Frontonasal dysplasia 3, 613456 (3)
ALX3	606014	Frontonasal dysplasia 1, 136760 (3)
ALX4	605420	Frontonasal dysplasia 2, 613451 (3)
ALX4	605420	Parietal foramina 2, 609597 (3)
AMACR	604489	Alpha-methylacyl-CoA racemase deficiency, 614307 (3)
AMACR	604489	Bile acid synthesis defect, congenital, 4, 214950 (3)
AMELX	300391	Amelogenesis imperfecta, hypoplastic/hypomaturation type 1E, 301200 (3)
AMH	600957	Persistent Mullerian duct syndrome, type I, 261550 (3)
AMHR2	600956	Persistent Mullerian duct syndrome, type II, 261550 (3)
AMN	605799	Megaloblastic anemia-1, Norwegian type, 261100 (3)
AMPD1	102770	Myoadenylate deaminase deficiency (3)
AMPD3	102772	[AMP deaminase deficiency, erythrocytic], 612874 (3)
AMT	238310	Glycine encephalopathy, 605899 (3)
ANG	105850	Amyotrophic lateral sclerosis 9, 611895 (3)
ANGPTL3	604774	Hypobetalipoproteinemia, familial, 2, 605019 (3)
ANGPTL4	605910	{Reduced triglycerides, susceptibility to} (3)
ANK1	612641	Spherocytosis, type 1, 182900 (3)
ANK2	106410	Cardiac arrhythmia, ankyrin-B-related, 600919 (3)
ANK2	106410	Long QT syndrome-4, 600919 (3)
ANKH	605145	Chondrocalcinosis 2, 118600 (3)
ANKH	605145	Craniometaphyseal dysplasia, 123000 (3)
ANKK1	608774	Dopamine receptor D2, reduced brain density of (3)
ANKRD11	611192	KBG syndrome, 148050 (3)
ANKRD26	610855	Thrombocytopenia 2, 188000 (3)
ANO10	613726	Spinocerebellar ataxia, autosomal recessive 10, 613728 (3)
ANO5	608662	Gnathodiaphyseal dysplasia, 166260 (3)
ANO5	608662	Miyoshi muscular dystrophy 3, 613319 (3)
ANO5	608662	Muscular dystrophy, limb-girdle, type 2L, 611307 (3)
ANO6	608663	Scott syndrome, 262890 (3)
ANTXR1	606410	{Hemangioma, capillary infantile, susceptibility to}, 602089 (3)
ANTXR2	608041	Fibromatosis, juvenile hyaline, 228600 (3)
ANTXR2	608041	Hyalinosis, infantile systemic, 236490 (3)
AP1S2	300629	Mental retardation, X-linked syndromic, Fried type, 300630 (3)
AP3B1	603401	Hermansky-Pudlak syndrome 2, 608233 (3)
AP4B1	607245	Cerebral palsy, spastic quadriplegic, 5, 614066 (3)
AP4E1	607244	Cerebral palsy, spastic quadriplegic, 4, 613744 (3)
AP4M1	602296	Cerebral palsy, spastic quadriplegic, 3, 612936 (3)
AP4S1	607243	Cerebral palsy, spastic quadriplegic, 6, 614067 (3)
AP5Z1	613653	Spastic paraplegia 48, autosomal recessive, 613647 (3)
APBB2	602710	{Alzheimer disease, late-onset}, 104300 (3)
APC	611731	Adenoma, periampullary, somatic (3)
APC	611731	Adenomatous polyposis coli, 175100 (3)
APC	611731	Brain tumor-polyposis syndrome 2 (3)
APC	611731	Colorectal cancer, somatic, 114500 (3)
APC	611731	Desmoid disease, hereditary, 135290 (3)
APC	611731	Gardner syndrome (3)
APC	611731	Gastric cancer, somatic, 613659 (3)
APC	611731	Hepatoblastoma, somatic, 114550 (3)
APCDD1	607479	Hypotrichosis simplex, 605389 (3)
APOA1	107680	Amyloidosis, 3 or more types, 105200 (3)
APOA1	107680	ApoA-I and apoC-III deficiency, combined (3)
APOA1	107680	Corneal clouding, autosomal recessive (3)
APOA1	107680	Hypoalphalipoproteinemia, 604091 (3)
APOA2	107670	Apolipoprotein A-II deficiency (3)
APOA2	107670	{Hypercholesterolemia, familial, modification of}, 143890 (3)
APOA5	606368	Hyperchylomicronemia, late-onset, 144650 (3)
APOA5	606368	{Hypertriglyceridemia, susceptibility to}, 145750 (3)
APOB	107730	Hypercholesterolemia, due to ligand-defective apo B, 144010 (3)
APOB	107730	Hypobetalipoproteinemia (3)
APOB	107730	Hypobetalipoproteinemia, normotriglyceridemic (3)
APOC2	608083	Hyperlipoproteinemia, type Ib, 207750 (3)
APOC3	107720	Hyperalphalipoproteinemia 2, 614028 (3)
APOE	107741	Alzheimer disease-2, 104310 (3)
APOE	107741	Hyperlipoproteinemia, type III (3)
APOE	107741	Lipoprotein glomerulopathy, 611771 (3)
APOE	107741	Sea-blue histiocyte disease, 269600 (3)
APOE	107741	{Macular degeneration, age-related}, 603075 (3)
APOE	107741	{Myocardial infarction susceptibility} (3)
APOL1	603743	{End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3)
APOL1	603743	{Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3)
APP	104760	Alzheimer disease 1, familial, 104300 (3)
APP	104760	Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714 (3)
APP	104760	Dementia, early-onset progressive, autosomal recessive (3)
APRT	102600	Urolithiasis, 2,8-dihydroxyadenine (3)
APTX	606350	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3)
APTX	606350	Coenzyme Q10 deficiency, 607426 (3)
AQP1	107776	[Aquaporin-1 deficiency] (3)
AQP1	107776	[Blood group, Colton], 110450 (3)
AQP2	107777	Diabetes insipidus, nephrogenic, 125800 (3)
AQP3	600170	[Blood group GIL], 607457 (3)
AQP7	602974	[Glycerol quantitative trait locus], 614411 (3)
ARFGEF2	605371	Periventricular heterotopia with microcephaly, 608097 (3)
ARG1	608313	Argininemia, 207800 (3)
ARHGAP26	605370	Leukemia, juvenile myelomonocytic, 607785 (3)
ARHGAP9	610576	{Coronary artery spasm 3, susceptibility to} (3)
ARHGEF10	608136	Slowed nerve conduction velocity, AD, 608236 (3)
ARHGEF12	604763	Leukemia, acute myeloid, 601626 (3)
ARHGEF6	300267	Mental retardation, X-linked 46, 300436 (3)
ARHGEF9	300429	Epileptic encephalopathy, early infantile, 8, 300607 (3)
ARID1B	614556	Mental retardation, autosomal dominant 12, 614562 (3)
ARL13B	608922	Joubert syndrome 8, 612291 (3)
ARL6	608845	Bardet-Biedl syndrome 3, 209900 (3)
ARL6	608845	Retinitis pigmentosa 55, 613575 (3)
ARL6	608845	{Bardet-Biedl syndrome 1, modifier of}, 209900 (3)
ARMS2	611313	{Macular degeneration, age-related, 8}, 613778 (3)
ARNT	126110	Leukemia, acute myeloblastic (3)
ARSA	607574	Metachromatic leukodystrophy, 250100 (3)
ARSB	611542	Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
ARSE	300180	Chondrodysplasia punctata, X-linked recessive, 302950 (3)
ART4	110600	[Blood group, Dombrock] (3)
ARX	300382	Epileptic encephalopathy, early infantile, 1, 308350 (3)
ARX	300382	Hydranencephaly with abnormal genitalia, 300215 (3)
ARX	300382	Lissencephaly, X-linked 2, 300215 (3)
ARX	300382	Mental retardation, X-linked 29 and others, 300419 (3)
ARX	300382	Partington syndrome, 309510 (3)
ARX	300382	Proud syndrome, 300004 (3)
ASAH1	613468	Farber lipogranulomatosis, 228000 (3)
ASCC1	614215	Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
ASCL1	100790	Central hypoventilation syndrome, congenital, 209880 (3)
ASCL1	100790	Haddad syndrome, 209880 (3)
ASIP	600201	[Skin/hair/eye pigmentation 9, brown/nonbrown eyes], 611742 (3)
ASIP	600201	[Skin/hair/eye pigmentation 9, dark/light hair], 611742 (3)
ASL	608310	Argininosuccinic aciduria, 207900 (3)
ASPA	608034	Canavan disease, 271900 (3)
ASPM	605481	Microcephaly, primary autosomal recessive, 5, 608716 (3)
ASPN	608135	{Lumbar disc degeneration}, 603932 (3)
ASPN	608135	{Osteoarthritis susceptibility 3}, 607850 (3)
ASPSCR1	606236	Alveolar soft-part sarcoma, 606243 (3)
ASS1	603470	Citrullinemia, 215700 (3)
ASXL1	612990	Bohring-Opitz syndrome, 605039 (3)
ASXL1	612990	Myelodysplastic syndrome, somatic, 614286 (3)
ATCAY	608179	Ataxia, cerebellar, Cayman type, 601238 (3)
ATG16L1	610767	{Inflammatory bowel disease 10}, 611081 (3)
ATIC	601731	AICA-ribosiduria due to ATIC deficiency, 608688 (3)
ATL1	606439	Neuropathy, hereditary sensory, type ID, 613708 (3)
ATL1	606439	Spastic paraplegia-3A, 182600 (3)
ATM	607585	Ataxia-telangiectasia, 208900 (3)
ATM	607585	Lymphoma, B-cell non-Hodgkin, somatic (3)
ATM	607585	Lymphoma, mantle cell (3)
ATM	607585	T-cell prolymphocytic leukemia, sporadic (3)
ATM	607585	{Breast cancer, susceptibility to}, 114480 (3)
ATN1	607462	Dentatorubro-pallidoluysian atrophy, 125370 (3)
ATP13A2	610513	Parkinson disease 9, 606693 (3)
ATP1A2	182340	Alternating hemiplegia of childhood, 104290 (3)
ATP1A2	182340	Migraine, familial basilar, 602481 (3)
ATP1A2	182340	Migraine, familial hemiplegic, 2, 602481 (3)
ATP1A3	182350	Dystonia-12, 128235 (3)
ATP2A1	108730	Brody myopathy, 601003 (3)
ATP2A2	108740	Acrokeratosis verruciformis, 101900 (3)
ATP2A2	108740	Darier disease, 124200 (3)
ATP2B2	108733	{Deafness, autosomal recessive 12, modifier of}, 601386 (3)
ATP2C1	604384	Hailey-Hailey disease, 169600 (3)
ATP5E	606153	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 (3)
ATP6AP2	300556	Mental retardation, X-linked, with epilepsy, 300423 (3)
ATP6V0A2	611716	Cutis laxa, autosomal recessive, type IIA, 219200 (3)
ATP6V0A2	611716	Wrinkly skin syndrome, 278250 (3)
ATP6V0A4	605239	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
ATP6V1B1	192132	Renal tubular acidosis with deafness, 267300 (3)
ATP7A	300011	Menkes disease, 309400 (3)
ATP7A	300011	Occipital horn syndrome, 304150 (3)
ATP7A	300011	Spinal muscular atrophy, distal, X-linked 3, 300489 (3)
ATP7B	606882	Wilson disease, 277900 (3)
ATP8B1	602397	Cholestasis, benign recurrent intrahepatic, 243300 (3)
ATP8B1	602397	Cholestasis, progressive familial intrahepatic 1, 211600 (3)
ATPAF2	608918	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 (3)
ATR	601215	Seckel syndrome 1, 210600 (3)
ATRX	300032	Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3)
ATRX	300032	Alpha-thalassemia/mental retardation syndrome, 301040 (3)
ATRX	300032	Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3)
ATXN1	601556	Spinocerebellar ataxia 1, 164400 (3)
ATXN10	611150	Spinocerebellar ataxia 10, 603516 (3)
ATXN2	601517	Spinocerebellar ataxia 2, 183090 (3)
ATXN3	607047	Machado-Joseph disease, 109150 (3)
ATXN7	607640	Spinocerebellar ataxia 7, 164500 (3)
ATXN8	613289	Spinocerebellar ataxia 8, 608768 (3)
ATXN8OS	603680	Spinocerebellar ataxia 8, 608768 (3)
AUH	600529	3-methylglutaconic aciduria, type I, 250950 (3)
AURKA	603072	{Colon cancer, susceptibility to}, 114500 (3)
AURKC	603495	Spermatogenic failure 5, 243060 (3)
AVP	192340	Diabetes insipidus, neurohypophyseal, 125700 (3)
AVPR2	300538	Diabetes insipidus, nephrogenic, 304800 (3)
AVPR2	300538	Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3)
AXIN1	603816	Caudal duplication anomaly, 607864 (3)
AXIN1	603816	Hepatocellular carcinoma, somatic, 114550 (3)
AXIN2	604025	Colorectal cancer, 114500 (3)
AXIN2	604025	Oligodontia-colorectal cancer syndrome, 608615 (3)
B2M	109700	Hypoproteinemia, hypercatabolic, 241600 (3)
B3GALNT1	603094	[Blood group, P system], 111400 (3)
B3GALTL	610308	Peters-plus syndrome, 261540 (3)
B3GAT3	606374	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 (3)
B4GALT1	137060	Congenital disorder of glycosylation, type IId, 607091 (3)
B4GALT7	604327	Ehlers-Danlos syndrome, progeroid form, 130070 (3)
B9D1	614144	Meckel syndrome 9, 614209 (3)
B9D2	611951	Meckel syndrome 10, 614175 (3)
BAAT	602938	Hypercholanemia, familial, 607748 (3)
BAG3	603883	Cardiomyopathy, dilated, 1HH, 613881 (3)
BAG3	603883	Myopathy, myofibrillar, BAG3-related, 612954 (3)
BANF1	603811	Nestor-Guillermo progeria syndrome, 614008 (3)
BANK1	610292	{Systemic lupus erythematosus, association with}, 152700 (3)
BAP1	603089	Tumor predisposition syndrome, 614327 (3)
BARD1	601593	{Breast cancer, susceptibility to}, 114480 (3)
BAX	600040	Colorectal cancer (3)
BAX	600040	T-cell acute lymphoblastic leukemia (3)
BBS1	209901	Bardet-Biedl syndrome 1, 209900 (3)
BBS10	610148	Bardet-Biedl syndrome 10, 209900 (3)
BBS12	610683	Bardet-Biedl syndrome 12, 209900 (3)
BBS2	606151	Bardet-Biedl syndrome 2, 209900 (3)
BBS4	600374	Bardet-Biedl syndrome 4, 209900 (3)
BBS5	603650	Bardet-Biedl syndrome 5, 209900 (3)
BBS7	607590	Bardet-Biedl syndrome 7, 209900 (3)
BBS9	607968	Bardet-Biedl syndrome 9, 209900 (3)
BCAM	612773	[Blood group, Auberger system], 111200 (3)
BCAM	612773	[Blood group, Lutheran null], 247420 (3)
BCAM	612773	[Blood group, Lutheran system], 111200 (3)
BCHE	177400	Apnea, postanesthetic (3)
BCKDHA	608348	Maple syrup urine disease, type Ia, 248600 (3)
BCKDHB	248611	Maple syrup urine disease, type Ib, 248600 (3)
BCL10	603517	Colon cancer, somatic, 114500 (3)
BCL10	603517	Lymphoma, MALT, somatic, 137245 (3)
BCL10	603517	{Lymphoma, follicular, somatic}, 613024 (3)
BCL10	603517	{Male germ cell tumor, somatic}, 273300, (3)
BCL10	603517	{Mesothelioma, somatic}, 156240 (3)
BCL10	603517	{Sezary syndrome, somatic}, (3)
BCL2	151430	Leukemia/lymphoma, B-cell, 2 (3)
BCL7A	601406	B-cell non-Hodgkin lymphoma, high-grade (3)
BCMO1	605748	Hypercarotenemia and vitamin A deficiency, autosomal dominant, 115300 (3)
BCOR	300485	Microphthalmia, syndromic 2, 300166 (3)
BCR	151410	Leukemia, acute lymphocytic, 613065 (3)
BCR	151410	Leukemia, chronic myeloid, 608232 (3)
BCS1L	603647	Bjornstad syndrome, 262000 (3)
BCS1L	603647	GRACILE syndrome, 603358 (3)
BCS1L	603647	Leigh syndrome, 256000 (3)
BCS1L	603647	Mitochondrial complex III deficiency, 124000 (3)
BDNF	113505	Central hypoventilation syndrome, congenital, 209880 (3)
BDNF	113505	{Anorexia nervosa, susceptibility to}, 606788 (3)
BDNF	113505	{Bulimia nervosa, age of onset of weight loss in}, 607499 (3)
BDNF	113505	{Memory impairment, susceptibility to} (3)
BDNF	113505	{Obsessive-compulsive disorder, protection against}, 164230 (3)
BEAN1	612051	Spinocerebellar ataxia 31, 117210 (3)
BEST1	607854	Best macular dystrophy, 153700 (3)
BEST1	607854	Bestrophinopathy, 611809 (3)
BEST1	607854	Maculopathy, bull's-eye (3)
BEST1	607854	Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3)
BEST1	607854	Retinitis pigmentosa, concentric, 613194 (3)
BEST1	607854	Retinitis pigmentosa-50, 613194 (3)
BEST1	607854	Vitelliform macular dystrophy, adult-onset, 608161 (3)
BEST1	607854	Vitreoretinochoroidopathy, 193220 (3)
BFSP1	603307	Cataract, cortical, juvenile-onset, 611391 (3)
BFSP2	603212	Cataract, autosomal dominant, multiple types 1, 611597 (3)
BFSP2	603212	Cataract, congenital, 604219 (3)
BFSP2	603212	Cataract, juvenile-onset, 604219 (3)
BHLHE41	606200	[Short sleeper], 612975 (3)
BICC1	614295	{Renal dysplasia, cystic, susceptibility to}, 601331 (3)
BIN1	601248	Myopathy, centronuclear, autosomal recessive, 255200 (3)
BLK	191305	Maturity-onset diabetes of the young, type 11, 613375 (3)
BLM	604610	Bloom syndrome, 210900 (3)
BLMH	602403	{Alzheimer disease, susceptibility to}, 104300 (3)
BLNK	604515	Agammaglobulinemia 4, 613502 (3)
BLOC1S3	609762	Hermansky-Pudlak syndrome 8, 614077 (3)
BLVRA	109750	Hyperbiliverdinemia, 614156 (3)
BMP15	300247	Ovarian dysgenesis 2, 300510 (3)
BMP15	300247	Premature ovarian failure 4, 300510 (3)
BMP2	112261	Brachydactyly, type A2, 112600 (3)
BMP2	112261	{HFE hemochromatosis, modifier of}, 235200 (3)
BMP4	112262	Microphthalmia, syndromic 6, 607932 (3)
BMP4	112262	Orofacial cleft 11, 600625 (3)
BMPER	608699	Diaphanospondylodysostosis, 608022 (3)
BMPR1A	601299	Juvenile polyposis syndrome, infantile form, 174900 (3)
BMPR1A	601299	Polyposis syndrome, hereditary mixed, 2, 610069 (3)
BMPR1A	601299	Polyposis, juvenile intestinal, 174900 (3)
BMPR1B	603248	Brachydactyly, type A2, 112600 (3)
BMPR1B	603248	Chrondrodysplasia, acromesomelic, with genital anomalies, 609441 (3)
BMPR2	600799	Pulmonary hypertension, familial primary, 178600 (3)
BMPR2	600799	Pulmonary hypertension, primary, fenfluramine-associated, 178600 (3)
BMPR2	600799	Pulmonary venoocclusive disease, 265450 (3)
BOLA3	613183	Multiple mitochondrial dysfunctions syndrome 2, 614299 (3)
BPGM	613896	Erythrocytosis due to bisphosphoglycerate mutase deficiency, 222800 (3)
BRAF	164757	Adenocarcinoma of lung, somatic, 211980 (3)
BRAF	164757	Cardiofaciocutaneous syndrome, 115150 (3)
BRAF	164757	Colorectal cancer, somatic (3)
BRAF	164757	LEOPARD syndrome 3, 613707 (3)
BRAF	164757	Melanoma, malignant, somatic (3)
BRAF	164757	Nonsmall cell lung cancer, somatic (3)
BRAF	164757	Noonan syndrome 7, 613706 (3)
BRAT1	614506	Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)
BRCA1	113705	{Breast-ovarian cancer, familial, 1}, 604370 (3)
BRCA1	113705	{Pancreatic cancer, susceptibility to, 4}, 614320 (3)
BRCA2	600185	Fanconi anemia, complementation group D1, 605724 (3)
BRCA2	600185	Pancreatic cancer, 613347 (3)
BRCA2	600185	Prostate cancer, 176807 (3)
BRCA2	600185	Wilms tumor, 194070 (3)
BRCA2	600185	{Breast cancer, male, susceptibility to}, 114480 (3)
BRCA2	600185	{Breast-ovarian cancer, familial, 2}, 612555 (3)
BRCA2	600185	{Glioblastoma 3}, 613029 (3)
BRCA2	600185	{Medulloblastoma}, 155255 (3)
BRCA2	600185	{Pre-B-cell acute lymphoblastic leukemia}, (3)
BRIP1	605882	Breast cancer, early-onset, 114480 (3)
BRIP1	605882	Fanconi anemia, complementation group J, 609054 (3)
BRWD3	300553	Mental retardation, X-linked 93, 300659 (3)
BSCL2	606158	Lipodystrophy, congenital generalized, type 2, 269700 (3)
BSCL2	606158	Neuropathy, distal hereditary motor, type V, 600794 (3)
BSCL2	606158	Silver spastic paraplegia syndrome, 270685 (3)
BSG	109480	[Blood group, OK], 111380 (3)
BSND	606412	Bartter syndrome, type 4a, 602522 (3)
BSND	606412	Sensorineural deafness with mild renal dysfunction, 602522 (3)
BTD	609019	Biotinidase deficiency, 253260 (3)
BTK	300300	Agammaglobulinemia and isolated hormone deficiency, 307200 (3)
BTK	300300	Agammaglobulinemia, X-linked 1, 300755 (3)
BTNL2	606000	{Sarcoidosis, susceptibility to, 2}, 612387 (3)
BUB1	602452	Colorectal cancer with chromosomal instability (3)
BUB1B	602860	Colorectal cancer, 114500 (3)
BUB1B	602860	Mosaic variegated aneuploidy syndrome, 257300 (3)
BUB1B	602860	[Premature chromatid separation trait], 176430 (3)
C10orf2	606075	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3)
C10orf2	606075	Progressive external ophthalmoplegia, autosomal dominant, 3, 609286 (3)
C12orf65	613541	Combined oxidative phosphorylation deficiency 7, 613559 (3)
C14orf133	613401	Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3)
C16orf57	613276	Poikiloderma with neutropenia, 604173 (3)
C19orf12	614297	Neurodegeneration with brain iron accumulation 4, 614298 (3)
C1GALT1C1	300611	Tn syndrome, 300622 (3)
C1QA	120550	C1q deficiency, 613652 (3)
C1QB	120570	C1q deficiency, 613652 (3)
C1QC	120575	C1q deficiency, 613652 (3)
C1QTNF5	608752	Retinal degeneration, late-onset, autosomal dominant, 605670 (3)
C1S	120580	C1s deficiency, 613783 (3)
C20orf7	612360	Mitochondrial complex 1 deficiency, 252010 (3)
C2orf71	613425	Retinitis pigmentosa 54, 613428 (3)
C4A	120810	C4a deficiency, 614380 (3)
C4A	120810	[Blood group, Rodgers], 614374 (3)
C4B	120820	C4B deficiency, 614379 (3)
C6orf221	611687	Hydatidiform mole, recurrent, 2, 614293 (3)
C7orf10	609187	[Glutaric aciduria III], 231690 (3)
C8A	120950	C8 deficiency, type I, 613790 (3)
C8B	120960	C8 deficiency, type II, 613789 (3)
C8orf37	614477	Cone-rod dystrophy 16, 614500 (3)
C8orf37	614477	Retinitis pigmentosa 64, 614500 (3)
C8orf38	612392	Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
C9orf72	614260	Amyotrophic lateral sclerosis with frontotemporal dementia, 105550 (3)
CA12	603263	Hyperchlorhidrosis, isolated, 143860 (3)
CA2	611492	Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
CA4	114760	Retinitis pigmentosa 17, 600852 (3)
CA8	114815	Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 (3)
CABP4	608965	Night blindness, congenital stationary, type 2B, 610427 (3)
CACNA1A	601011	Episodic ataxia, type 2, 108500 (3)
CACNA1A	601011	Migraine, familial hemiplegic, 1, 141500 (3)
CACNA1A	601011	Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
CACNA1A	601011	Spinocerebellar ataxia 6, 183086 (3)
CACNA1C	114205	Brugada syndrome 3, 611875 (3)
CACNA1C	114205	Timothy syndrome, 601005 (3)
CACNA1F	300110	Aland Island eye disease, 300600 (3)
CACNA1F	300110	Cone-rod dystrophy, X-linked, 3, 300476 (3)
CACNA1F	300110	Night blindness, congenital stationary, X-linked, type 2A, 300071 (3)
CACNA1H	607904	{Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3)
CACNA1H	607904	{Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
CACNA1S	114208	Hypokalemic periodic paralysis, type 1, 170400 (3)
CACNA1S	114208	{Malignant hyperthermia susceptibility 5}, 601887 (3)
CACNA1S	114208	{Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3)
CACNA2D4	608171	Retinal cone dystrophy 4, 610478 (3)
CACNB2	600003	Brugada syndrome 4, 611876 (3)
CACNB4	601949	Episodic ataxia, type 5, 613855 (3)
CACNB4	601949	{Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682 (3)
CACNB4	601949	{Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 (3)
CACNG2	602911	Mental retardation, autosomal dominant 10, 614256 (3)
CALCR	114131	{Osteoporosis, postmenopausal, susceptibility}, 166710 (3)
CALR3	611414	Cardiomyopathy, familial hypertrophic, 19, 613875 (3)
CANT1	613165	Desbuquois dysplasia, 251450 (3)
CAPN10	605286	{Diabetes mellitus, noninsulin-dependent 1}, 601283 (3)
CAPN3	114240	Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
CARD9	607212	Candidiasis, familial, 2, autosomal recessive, 212050 (3) 212050 (3)
CARTPT	602606	{Obesity, susceptibility to}, 601665 (3)
CASK	300172	FG syndrome 4, 300422 (3)
CASK	300172	Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 (3)
CASK	300172	Mental retardation, with or without nystagmus, 300422 (3)
CASP10	601762	Autoimmune lymphoproliferative syndrome, type II, 603909 (3)
CASP10	601762	Gastric cancer, somatic, 137215 (3)
CASP10	601762	Non-Hodgkin lymphoma, somatic, 605027 (3)
CASP12	608633	{Sepsis, susceptibility to} (3)
CASP8	601763	Hepatocellular carcinoma, somatic, 114550 (3)
CASP8	601763	Immunodeficiency due to CASP8 deficiency, 607271 (3)
CASP8	601763	{Breast cancer, protection against}, 114480 (3)
CASP8	601763	{Lung cancer, protection against}, 211980 (3)
CASQ2	114251	Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)
CASR	601199	Hyperparathyroidism, neonatal, 239200 (3)
CASR	601199	Hypocalcemia, autosomal dominant, 146200 (3)
CASR	601199	Hypocalcemia, autosomal dominant, with Bartter syndrome (3)
CASR	601199	Hypocalciuric hypercalcemia, type I, 145980 (3)
CASR	601199	{Epilepsy, idiopathic generalized, susceptibility to, 8}, 612899 (3)
CAT	115500	Acatalasemia, 614097 (3)
CATSPER1	606389	Spermatogenic failure 7, 612997 (3)
CAV1	601047	Lipodystrophy, congenital generalized, type 3, 612526 (3)
CAV3	601253	Cardiomyopathy, familial hypertrophic, 192600 (3)
CAV3	601253	Creatine phosphokinase, elevated serum, 123320 (3)
CAV3	601253	Long QT syndrome-9, 611818 (3)
CAV3	601253	Muscular dystrophy, limb-girdle, type IC, 607801 (3)
CAV3	601253	Myopathy, distal, Tateyama type, 614321 (3)
CAV3	601253	Rippling muscle disease, 606072 (3)
CBL	165360	Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia, 613563 (3)
CBS	613381	Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)
CBS	613381	Thrombosis, hyperhomocysteinemic, 236200 (3)
CBX2	602770	46XY sex reversal 5, 613080 (3)
CC2D1A	610055	Mental retardation, autosomal recessive 3, 608443 (3)
CC2D2A	612013	COACH syndrome, 216360 (3)
CC2D2A	612013	Joubert syndrome 9, 612285 (3)
CC2D2A	612013	Meckel syndrome, type 6, 612284 (3)
CCBE1	612753	Hennekam lymphangiectasia-lymphedema syndrome, 235510 (3)
CCDC28B	610162	{Bardet-Biedl syndrome, modifier of}, 209900 (3)
CCDC39	613798	Ciliary dyskinesia, primary, 14, 613807 (3)
CCDC40	613799	Ciliary dyskinesia, primary, 15, 613808 (3)
CCDC50	611051	Deafness, autosomal dominant 44, 607453 (3)
CCDC8	614145	Three M syndrome 3, 614205 (3)
CCL11	601156	{Asthma, susceptibility to}, 600807 (3)
CCL11	601156	{HIV1, resistance to}, 609423 (3)
CCL2	158105	{Coronary artery disease, modifier of} (3)
CCL2	158105	{HIV-1, resistance to}, 609423 (3)
CCL2	158105	{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
CCL2	158105	{Spina bifida, susceptibility to}, 182940 (3)
CCL3L1	601395	{HIV/AIDS, susceptibility to}, 609423 (3)
CCL5	187011	{HIV-1 disease, delayed progression of} (3)
CCL5	187011	{HIV-1 disease, rapid progression of} (3)
CCM2	607929	Cerebral cavernous malformations-2, 603284 (3)
CCND1	168461	{Colorectal cancer, susceptibility to}, 114500 (3)
CCND1	168461	{von Hippel-Lindau disease, modification of}, 193300 (3)
CCR2	601267	{HIV infection, susceptibility/resistance to} (3)
CCR5	601373	{Diabetes mellitus, insulin-dependent, 22}, 612522 (3)
CCR5	601373	{HIV infection, susceptibility/resistance to} (3)
CCR5	601373	{Hepatitis C virus, resistance to}, 609532 (3)
CCR5	601373	{West nile virus, susceptibility to}, 610379 (3)
CCT5	610150	Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
CD151	602243	Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3)
CD151	602243	[Blood group, Raph], 179620 (3)
CD19	107265	Immunodeficiency, common variable, 3, 613493 (3)
CD207	604862	[Birbeck granule deficiency], 613393 (3)
CD209	604672	{Dengue fever, protection against}, 614371 (3)
CD209	604672	{HIV type 1, susceptibility to}, 609423 (3)
CD209	604672	{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
CD24	600074	{Multiple sclerosis, susceptibility to}, 126200 (3)
CD244	605554	{Rheumatoid arthritis, susceptibility to}, 180300 (3)
CD247	186780	Immunodeficiency due to defect in CD3-zeta, 610163 (3)
CD2AP	604241	Glomerulosclerosis, focal segmental, 3, 607832 (3)
CD320	606475	Methylmalonic aciduria due to transcobalamin receptor defect, 613646 (3)
CD36	173510	Platelet glycoprotein IV deficiency, 608404 (3)
CD36	173510	{Coronary heart disease, susceptibility to, 7}, 610938 (3)
CD36	173510	{Malaria, cerebral, reduced risk of}, 611162 (3)
CD36	173510	{Malaria, cerebral, susceptibility to}, 611162 (3)
CD3D	186790	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3)
CD3E	186830	Immunodeficiency due to defect in CD3-epsilon (3)
CD3E	186830	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3)
CD3G	186740	Immunodeficiency due to defect in CD3-gamma (3)
CD4	186940	OKT4 epitope deficiency, 613949 (3)
CD40	109535	Immunodeficiency with hyper-IgM, type 3, 606843 (3)
CD40LG	300386	Immunodeficiency, X-linked, with hyper-IgM, 308230 (3)
CD44	107269	[Blood group, Indian system] (3)
CD46	120920	{Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 (3)
CD55	125240	[Blood group Cromer], 613793 (3)
CD59	107271	CD59 deficiency, 612300 (3)
CD79A	112205	Agammaglobulinemia 3, 613501 (3)
CD79B	147245	Agammaglobulinemia 6, 612692 (3)
CD81	186845	Immunodeficiency, common variable, 6, 613496 (3)
CD8A	186910	CD8 deficiency, familial, 608957 (3)
CD96	606037	C syndrome, 211750 (3)
CDAN1	607465	Anemia, congenital dyserythropoietic, type I, 224120 (3)
CDC6	602627	Meier-Gorlin syndrome 5, 613805 (3)
CDC73	607393	Hyperparathyroidism, familial primary, 145000 (3)
CDC73	607393	Hyperparathyroidism-jaw tumor syndrome, 145001 (3)
CDC73	607393	Parathyroid adenoma with cystic changes, 145001 (3)
CDC73	607393	Parathyroid carcinoma, 608266 (3)
CDH1	192090	Endometrial carcinoma, somatic, 608089 (3)
CDH1	192090	Gastric cancer, familial diffuse, with or without cleft lip and/or palate, 137215 (3)
CDH1	192090	Ovarian carcinoma, somatic, 167000 (3)
CDH1	192090	{Breast cancer, lobular}, 114480 (3)
CDH1	192090	{Prostate cancer, susceptibility to}, 176807 (3)
CDH15	114019	Mental retardation, autosomal dominant 3, 612580 (3)
CDH23	605516	Deafness, autosomal recessive 12, 601386 (3)
CDH23	605516	Usher syndrome, type 1D, 601067 (3)
CDH23	605516	Usher syndrome, type 1D/F digenic, 601067 (3)
CDH3	114021	Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)
CDH3	114021	Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3)
CDHR1	609502	Cone-rod dystrophy 15, 613660 (3)
CDK4	123829	{Melanoma, cutaneous malignant, 3}, 609048 (3)
CDK5RAP2	608201	Microcephaly, primary autosomal recessive, 3, 604804 (3)
CDKAL1	611259	{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
CDKL5	300203	Angelman syndrome-like, 105830 (3)
CDKL5	300203	Epileptic encephalopathy, early infantile, 2, 300672 (3)
CDKN1B	600778	Multiple endocrine neoplasia, type IV, 610755 (3)
CDKN1C	600856	Beckwith-Wiedemann syndrome, 130650 (3)
CDKN2A	600160	Li-Fraumeni syndrome, 151623 (3)
CDKN2A	600160	Melanoma and neural system tumor syndrome, 155755 (3)
CDKN2A	600160	Orolaryngeal cancer, multiple, (3)
CDKN2A	600160	Pancreatic cancer/melanoma syndrome, 606719 (3)
CDKN2A	600160	{Melanoma, cutaneous malignant, 2}, 155601 (3)
CDON	608707	Holoprosencephaly 11, 614226 (3)
CDSN	602593	Hypotrichosis simplex of scalp 1, 146520 (3)
CDSN	602593	Peeling skin syndrome, 270300 (3)
CDT1	605525	Meier-Gorlin syndrome 4, 613804 (3)
CEBPA	116897	Leukemia, acute myeloid, 601626 (3)
CEBPE	600749	Specific granule deficiency, 245480 (3)
CEL	114840	Maturity-onset diabetes of the young, type VIII, 609812 (3)
CENPJ	609279	Microcephaly, primary autosomal recessive, 6, 608393 (3)
CENPJ	609279	Seckel syndrome 4, 613676 (3)
CEP152	613529	Microcephaly, primary autosomal recessive, 4, 604321 (3)
CEP152	613529	Seckel syndrome 5, 613823 (3)
CEP290	610142	Bardet-Biedl syndrome 14, 209900 (3)
CEP290	610142	Joubert syndrome 5, 610188 (3)
CEP290	610142	Leber congenital amaurosis 10, 611755 (3)
CEP290	610142	Meckel syndrome type 4, 611134 (3)
CEP290	610142	Senior-Loken syndrome 6, 610189 (3)
CEP41	610523	Joubert syndrome 15, 614464 (3)
CEP57	607951	Mosaic variegated aneuploidy syndrome 2, 614114 (3)
CERKL	608381	Retinitis pigmentosa 26, 608380 (3)
CES1	114835	Carboxylesterase 1 deficiency (3)
CETP	118470	Hyperalphalipoproteinemia, 143470 (3)
CETP	118470	[High density lipoprotein cholesterol level QTL 10], 143470 (3)
CFB	138470	{Hemolytic uremic syndrome, atypical, susceptibility to, 4}, 612924 (3)
CFB	138470	{Macular degeneration, age-related, reduced risk of}, 603075 (3)
CFC1	605194	Double-outlet right ventricle, 217095 (3)
CFC1	605194	Heterotaxy, visceral, 2, autosomal, 605376 (3)
CFC1	605194	Transposition of the great arteries, dextro-looped 2, 613853 (3)
CFD	134350	Complement factor D deficiency, 613912 (3)
CFH	134370	Basal laminar drusen, 126700 (3)
CFH	134370	Complement factor H deficiency, 609814 (3)
CFH	134370	{Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3)
CFH	134370	{Macular degeneration, age-related, 4}, 610698 (3)
CFHR1	134371	{Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3)
CFHR1	134371	{Macular degeneration, age-related, reduced risk of}, 603075 (3)
CFHR3	605336	{Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3)
CFHR3	605336	{Macular degeneration, age-related, reduced risk of}, 603075 (3)
CFI	217030	Complement factor I deficiency, 610984 (3)
CFI	217030	{Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 (3)
CFL2	601443	Nemaline myopathy 7, 610687 (3)
CFP	300383	Properdin deficiency, X-linked, 312060 (3)
CFTR	602421	Congenital bilateral absence of vas deferens, 277180 (3)
CFTR	602421	Cystic fibrosis, 219700 (3)
CFTR	602421	Sweat chloride elevation without CF (3)
CFTR	602421	{Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
CFTR	602421	{Hypertrypsinemia, neonatal} (3)
CFTR	602421	{Pancreatitis, idiopathic}, 167800 (3)
CHAT	118490	Myasthenic syndrome, congenital, associated with episodic apnea, 254210 (3)
CHD7	608892	CHARGE syndrome, 214800 (3)
CHD7	608892	Hypogonadotropic hypogonadism, 146110 (3)
CHD7	608892	Kallmann syndrome 5, 612370 (3)
CHD7	608892	{Scoliosis, idiopathic 3}, 608765 (3)
CHEK2	604373	Li-Fraumeni syndrome, 609265 (3)
CHEK2	604373	Osteosarcoma, somatic, 259500 (3)
CHEK2	604373	{Breast and colorectal cancer, susceptibility to} (3)
CHEK2	604373	{Breast cancer, susceptibility to}, 114480 (3)
CHEK2	604373	{Prostate cancer, familial, susceptibility to}, 176807 (3)
CHI3L1	601525	{Asthma-related traits, susceptibility to, 7}, 611960 (3)
CHI3L1	601525	{Schizophrenia, susceptibility to}, 181500 (3)
CHIC2	604332	{Leukemia, acute myeloid}, 601626 (3)
CHIT1	600031	[Chitotriosidase deficiency], 614122 (3)
CHKB	612395	Muscular dystrophy, congenital, megaconial type, 602541 (3)
CHM	300390	Choroideremia, 303100 (3)
CHMP2B	609512	Amyotrophic lateral sclerosis, CHMP2B-related (3)
CHMP2B	609512	Dementia, familial, nonspecific, 600795 (3)
CHMP4B	610897	Cataract, posterior polar, 3, 605387 (3)
CHN1	118423	Duane retraction syndrome 2, 604356 (3)
CHRM3	118494	Eagle-Barrett syndrome, 100100 (3)
CHRNA1	100690	Multiple pterygium syndrome, lethal type, 253290 (3)
CHRNA1	100690	Myasthenic syndrome, fast-channel congenital, 608930 (3)
CHRNA1	100690	Myasthenic syndrome, slow-channel congenital, 601462 (3)
CHRNA2	118502	Epilepsy, nocturnal frontal lobe, type 4, 610353 (3)
CHRNA3	118503	{Lung cancer susceptibility 2}, 612052 (3)
CHRNA4	118504	Epilepsy, nocturnal frontal lobe, 1, 600513 (3)
CHRNA4	118504	{Nicotine addiction, susceptibility to}, 188890 (3)
CHRNA5	118505	{Lung cancer susceptibility 2}, 612052 (3)
CHRNB1	100710	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931 (3)
CHRNB1	100710	Myasthenic syndrome, slow-channel congenital, 601462 (3)
CHRNB2	118507	Epilepsy, nocturnal frontal lobe, 3, 605375 (3)
CHRND	100720	Multiple pterygium syndrome, lethal type, 253290 (3)
CHRND	100720	Myasthenic syndrome, fast-channel congenital, 608930 (3)
CHRND	100720	Myasthenic syndrome, slow-channel congenital, 601462 (3)
CHRNE	100725	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931 (3)
CHRNE	100725	Myasthenic syndrome, fast-channel congenital, 608930 (3)
CHRNE	100725	Myasthenic syndrome, slow-channel congenital, 601462 (3)
CHRNG	100730	Escobar syndrome, 265000 (3)
CHRNG	100730	Multiple pterygium syndrome, lethal type, 253290 (3)
CHST14	608429	Ehlers-Danlos syndrome, musculocontractural type , 601776 (3)
CHST3	603799	Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)
CHST6	605294	Macular corneal dystrophy, 217800 (3)
CHSY1	608183	Temtamy preaxial brachydactyly syndrome, 605282 (3)
CHUK	600664	Cocoon syndrome, 613630 (3)
CIITA	600005	Bare lymphocyte syndrome, type II, complementation group A, 209920 (3)
CIITA	600005	{Rheumatoid arthritis, susceptibility to}, 180300 (3)
CILP	603489	{Lumbar disc disease, susceptibility to}, 603932 (3)
CIRH1A	607456	Cirrhosis, North American Indian childhood type, 604901 (3)
CISD2	611507	Wolfram syndrome 2, 604928 (3)
CISH	602441	{Bacteremia, susceptibility to}, 614383 (3)
CISH	602441	{Malaria, susceptibility to}, 611162 (3)
CISH	602441	{Tuberculosis, susceptibility to}, 607948 (3)
CITED2	602937	Atrial septal defect 8, 614433 (3)
CITED2	602937	Ventricular septal defect 2, 614431 (3)
CLCF1	607672	Cold-induced sweating syndrome 1, 610313 (3)
CLCN1	118425	Myotonia congenita, dominant, 160800 (3)
CLCN1	118425	Myotonia congenita, recessive, 255700 (3)
CLCN1	118425	Myotonia levior, recessive (3)
CLCN2	600570	{Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3)
CLCN2	600570	{Epilepsy, juvenile absence, susceptibility to, 2}, 607628 (3)
CLCN2	600570	{Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3)
CLCN5	300008	Dent disease, 300009 (3)
CLCN5	300008	Hypophosphatemic rickets, 300554 (3)
CLCN5	300008	Nephrolithiasis, type I, 310468 (3)
CLCN5	300008	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3)
CLCN7	602727	Osteopetrosis, autosomal dominant 2, 166600 (3)
CLCN7	602727	Osteopetrosis, autosomal recessive 4, 611490 (3)
CLCNKA	602024	Bartter syndrome, type 4b, digenic, 613090 (3)
CLCNKB	602023	Bartter syndrome, type 3, 607364 (3)
CLCNKB	602023	Bartter syndrome, type 4, digenic, 602522 (3)
CLDN1	603718	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3)
CLDN14	605608	Deafness, autosomal recessive 29, 614035 (3)
CLDN16	603959	Hypomagnesemia 3, renal, 248250 (3)
CLDN19	610036	Hypomagnesemia 5, renal, with ocular involvement, 248190 (3)
CLEC7A	606264	Candidiasis, familial, 4, autosomal dominant, 613108 (3)
CLEC7A	606264	{Aspergillosis, susceptibility to}, 614079 (3)
CLN3	607042	Ceroid lipofuscinosis, neuronal, 3, 204200 (3)
CLN5	608102	Ceroid lipofuscinosis, neuronal, 5, 256731 (3)
CLN6	606725	Ceroid lipofuscinosis, neuronal, 6, 601780 (3)
CLN6	606725	Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 (3)
CLN8	607837	Ceroid lipofuscinosis, neuronal, 8, 600143 (3)
CLN8	607837	Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 (3)
CLRN1	606397	Retinitis pigmentosa 61, 614180 (3)
CLRN1	606397	Usher syndrome, type 3A, 276902 (3)
CNBP	116955	Myotonic dystrophy 2, 602668 (3)
CNGA1	123825	Retinitis pigmentosa 49, 613756 (3)
CNGA3	600053	Achromatopsia-2, 216900 (3)
CNGB1	600724	Retinitis pigmentosa 45, 613767 (3)
CNGB3	605080	Achromatopsia-3, 262300 (3)
CNGB3	605080	Macular degeneration, juvenile, 248200 (3)
CNNM2	607803	Hypomagnesemia 6, renal, 613882 (3)
CNNM4	607805	Jalili syndrome, 217080 (3)
CNTN1	600016	Myopathy, congenital, Compton-North, 612540 (3)
CNTNAP2	604569	Cortical dysplasia-focal epilepsy syndrome, 610042 (3)
CNTNAP2	604569	Pitt-Hopkins like syndrome 1, 610042 (3)
CNTNAP2	604569	{Autism susceptibility 15}, 612100 (3)
COA5	613920	Mitochondrial complex IV deficiency, 220110 (3)
COCH	603196	Deafness, autosomal dominant 9, 601369 (3)
COG1	606973	Congenital disorder of glycosylation, type IIg, 611209 (3)
COG4	606976	Congenital disorder of glycosylation, type IIj, 613489 (3)
COG5	606821	Congenital disorder of glycosylation, type IIi, 613612 (3)
COG7	606978	Congenital disorder of glycosylation, type IIe, 608779 (3)
COG8	606979	Congenital disorder of glycosylation, type IIh, 611182 (3)
COL10A1	120110	Metaphyseal chondrodysplasia, Schmid type, 156500 (3)
COL11A1	120280	Fibrochondrogenesis, 228520 (3)
COL11A1	120280	Marshall syndrome, 154780 (3)
COL11A1	120280	Stickler syndrome, type II, 604841 (3)
COL11A1	120280	{Lumbar disc herniation, susceptibility to}, 603932 (3)
COL11A2	120290	Deafness, autosomal dominant 13, 601868 (3)
COL11A2	120290	Deafness, autosomal recessive 53, 609706 (3)
COL11A2	120290	Fibrochondrogenesis 2, 614524 (3)
COL11A2	120290	Otospondylomegaepiphyseal dysplasia, 215150 (3)
COL11A2	120290	Stickler syndrome, type III, 184840 (3)
COL11A2	120290	Weissenbacher-Zweymuller syndrome, 277610 (3)
COL17A1	113811	Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
COL18A1	120328	Knobloch syndrome, type 1, 267750 (3)
COL1A1	120150	Caffey disease, 114000 (3)
COL1A1	120150	Ehlers-Danlos syndrome, type I, 130000 (3)
COL1A1	120150	Ehlers-Danlos syndrome, type VIIA, 130060 (3)
COL1A1	120150	OI type II, 166210 (3)
COL1A1	120150	OI type III, 259420 (3)
COL1A1	120150	OI type IV, 166220 (3)
COL1A1	120150	Osteogenesis imperfecta, type I, 166200 (3)
COL1A1	120150	[Bone mineral density variation QTL] (3)
COL1A1	120150	{Osteoporosis}, 166710 (3)
COL1A2	120160	Ehlers-Danlos syndrome, cardiac valvular form, 225320 (3)
COL1A2	120160	Ehlers-Danlos syndrome, type VIIB, 130060 (3)
COL1A2	120160	Osteogenesis imperfecta, type II, 166210 (3)
COL1A2	120160	Osteogenesis imperfecta, type III, 259420 (3)
COL1A2	120160	Osteogenesis imperfecta, type IV, 166220 (3)
COL1A2	120160	{Osteoporosis, postmenopausal}, 166710 (3)
COL2A1	120140	Achondrogenesis, type II or hypochondrogenesis, 200610 (3)
COL2A1	120140	Avascular necrosis of the femoral head, 608805 (3)
COL2A1	120140	Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3)
COL2A1	120140	Kniest dysplasia, 156550 (3)
COL2A1	120140	Legg-Calve-Perthes disease, 150600 (3)
COL2A1	120140	Osteoarthritis with mild chondrodysplasia, 604864 (3)
COL2A1	120140	Otospondylomegaepiphyseal dysplasia, 215150 (3)
COL2A1	120140	Platyspondylic skeletal dysplasia, Torrance type, 151210 (3)
COL2A1	120140	SED congenita, 183900 (3)
COL2A1	120140	SED, Namaqualand type (3)
COL2A1	120140	SMED Strudwick type, 184250 (3)
COL2A1	120140	Spondyloperipheral dysplasia, 271700 (3)
COL2A1	120140	Stickler sydrome, type I, nonsyndromic ocular, 609508 (3)
COL2A1	120140	Stickler syndrome, type I, 108300 (3)
COL2A1	120140	Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)
COL3A1	120180	Ehlers-Danlos syndrome, type III, 130020 (3)
COL3A1	120180	Ehlers-Danlos syndrome, type IV, 130050 (3)
COL4A1	120130	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773 (3)
COL4A1	120130	Brain small vessel disease with Axenfeld-Rieger anomaly, 607595 (3)
COL4A1	120130	Brain small vessel disease with hemorrhage, 607595 (3)
COL4A1	120130	Porencephaly 1, 175780 (3)
COL4A2	120090	Porencephaly 2, 614483 (3)
COL4A2	120090	{Stroke, hemorrhagic}, 614519 (3)
COL4A3	120070	Alport syndrome, autosomal recessive, 203780 (3)
COL4A3	120070	Hematuria, benign familial, 141200 (3)
COL4A4	120131	Alport syndrome, autosomal recessive, 203780 (3)
COL4A4	120131	Hematuria, familial benign (3)
COL4A5	303630	Alport syndrome, 301050 (3)
COL5A1	120215	Ehlers-Danlos syndrome, type I, 130000 (3)
COL5A1	120215	Ehlers-Danlos syndrome, type II, 130010 (3)
COL5A2	120190	Ehlers-Danlos syndrome, type I, 130000 (3)
COL6A1	120220	Bethlem myopathy, 158810 (3)
COL6A1	120220	Ullrich congenital muscular dystrophy, 254090 (3)
COL6A2	120240	Bethlem myopathy, 158810 (3)
COL6A2	120240	Myosclerosis, congenital, 255600 (3)
COL6A2	120240	Ullrich congenital muscular dystrophy, 254090 (3)
COL6A3	120250	Bethlem myopathy, 158810 (3)
COL6A3	120250	Ullrich congenital muscular dystrophy, 254090 (3)
COL7A1	120120	EBD inversa, 226600 (3)
COL7A1	120120	EBD, Bart type, 132000 (3)
COL7A1	120120	EBD, localisata variant (3)
COL7A1	120120	Epidermolysis bullosa dystrophica, AD, 131750 (3)
COL7A1	120120	Epidermolysis bullosa dystrophica, AR, 226600 (3)
COL7A1	120120	Epidermolysis bullosa pruriginosa, 604129 (3)
COL7A1	120120	Epidermolysis bullosa, pretibial, 131850 (3)
COL7A1	120120	Toenail dystrophy, isolated, 607523 (3)
COL7A1	120120	Transient bullous of the newborn, 131705 (3)
COL8A2	120252	Corneal dystrophy polymorphous posterior, 2, 609140 (3)
COL8A2	120252	Corneal dystrophy, Fuchs endothelial, 1, 136800 (3)
COL9A1	120210	Epiphyseal dysplasia, multiple, 6, 614135 (3)
COL9A1	120210	Stickler syndrome, type IV, 614134 (3)
COL9A2	120260	Epiphyseal dysplasia, multiple, 2, 600204 (3)
COL9A2	120260	Stickler syndrome, type V, 614284 (3)
COL9A2	120260	{Intervertebral disc disease, susceptibility to}, 603932 (3)
COL9A3	120270	Epiphyseal dysplasia, multiple, 3, 600969 (3)
COL9A3	120270	Epiphyseal dysplasia, multiple, with myopathy (3)
COL9A3	120270	{Intervertebral disc disease, susceptibility to}, 603932 (3)
COLQ	603033	Endplate acetylcholinesterase deficiency, 603034 (3)
COMP	600310	Epiphyseal dysplasia, multiple 1, 132400 (3)
COMP	600310	Pseudoachondroplasia, 177170 (3)
COMT	116790	{Panic disorder, susceptibility to}, 167870 (3)
COMT	116790	{Schizophrenia, susceptibility to}, 181500 (3)
COQ2	609825	Coenzyme Q10 deficiency, 607426 (3)
COQ9	612837	Coenzyme Q10 deficiency, 607426 (3)
COX10	602125	Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome c oxidase deficiency (3)
COX14	614478	Mitochondrial complex IV deficiency, 220110 (3)
COX15	603646	Cardiomyopathy, hypertrophic, early-onset fatal (3)
COX15	603646	Leigh syndrome due to cytochrome c oxidase deficiency, 256000 (3)
COX4I2	607976	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 (3)
COX6B1	124089	Cytochrome c oxidase deficiency, 220110 (3)
CPA6	609562	Epilepsy, familial temporal lobe, 5, 614417 (3)
CPA6	609562	Febrile seizures, familial, 11, 614418 (3)
CPN1	603103	Carboxypeptidase N deficiency, 212070 (3)
CPOX	612732	Coproporphyria, 121300 (3)
CPOX	612732	Harderoporphyria, 121300 (3)
CPS1	608307	Carbamoylphosphate synthetase I deficiency, 237300 (3)
CPS1	608307	{Pulmonary hypertension, familial persistent, of the newborn}, 265380 (3)
CPS1	608307	{Venoocclusive disease after bone marrow transplantation} (3)
CPT1A	600528	CPT deficiency, hepatic, type IA, 255120 (3)
CPT2	600650	CPT II deficiency, lethal neonatal, 608836 (3)
CPT2	600650	CPT deficiency, hepatic, type II, 600649 (3)
CPT2	600650	Myopathy due to CPT II deficiency, 255110 (3)
CPT2	600650	{Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 (3)
CR1	120620	[Blood group, Knops system], 607486 (3)
CR1	120620	{Malaria, severe, resistance to}, 611162 (3)
CR2	120650	{Systemic lupus erythematosus, susceptibility to, 9}, 610927 (3)
CRADD	603454	Mental retardation, autosomal recessive 34, 614499 (3)
CRB1	604210	Leber congenital amaurosis 8, 613835 (3)
CRB1	604210	Pigmented paravenous chorioretinal atrophy, 172870 (3)
CRB1	604210	Retinitis pigmentosa-12, autosomal recessive, 600105 (3)
CRBN	609262	Mental retardation, autosomal recessive 2, 607417 (3)
CREB1	123810	Histiocytoma, angiomatoid fibrous, somatic, 612160 (3)
CREBBP	600140	Rubinstein-Taybi syndrome, 180849 (3)
CRELD1	607170	Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3)
CRELD1	607170	{Atrioventricular septal defect, susceptibility to, 2}, 606217 (3)
CRLF1	604237	Cold-induced sweating syndrome, 272430 (3)
CRLF1	604237	Crisponi syndrome, 601378 (3)
CRTAP	605497	Osteogenesis imperfecta, type VII, 610682 (3)
CRTC1	607536	Mucoepidermoid salivary gland carcinoma (3)
CRX	602225	Cone-rod retinal dystrophy-2, 120970 (3)
CRX	602225	Leber congenital amaurosis 7, 613829 (3)
CRYAA	123580	Cataract, autosomal dominant nuclear (3)
CRYAA	123580	Cataract, congenital, autosomal recessive (3)
CRYAA	123580	Cataract, zonular central nuclear, autosomal dominant (3)
CRYAB	123590	Cataract, posterior polar 2, 613763 (3)
CRYAB	123590	Myopathy, myofibrillar, alpha-B crystallin-related, 608810 (3)
CRYAB	123590	Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related, 613869 (3)
CRYBA1	123610	Cataract, congenital zonular, with sutural opacities, 600881 (3)
CRYBA4	123631	Cataract, lamellar 2, 610425 (3)
CRYBA4	123631	Microphthalmia with cataract 4, 610426 (3)
CRYBB1	600929	Cataract, congenital nuclear, autosomal recessive 3, 611544 (3)
CRYBB1	600929	Cataract, pulverulent (3)
CRYBB2	123620	Cataract, Coppock-like, 604307 (3)
CRYBB2	123620	Cataract, cerulean, type 2, 601547 (3)
CRYBB2	123620	Cataract, sutural, with punctate and cerulean opacities, 607133 (3)
CRYBB3	123630	Cataract, congenital nuclear, 2, 609741 (3)
CRYGC	123680	Cataract, Coppock-like, 604307 (3)
CRYGC	123680	Cataract, variable zonular pulverulent (3)
CRYGD	123690	Cataract, congenital, cerulean type, 3, 608983 (3)
CRYGD	123690	Cataract, crystalline aculeiform, 115700 (3)
CRYGD	123690	Cataract, nonnuclear polymorphic congenital, 601286 (3)
CRYGD	123690	Cataracts, punctate, progressive juvenile-onset (3)
CRYGS	123730	Cataract, progressive polymorphic cortical (3)
CRYM	123740	Deafness, autosomal dominant 40 (3)
CSF1R	164770	Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3)
CSF2RA	306250	Surfactant metabolism dysfunction, pulmonary, 4, 300770 (3)
CSF2RB	138981	Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3)
CSF3R	138971	Neutrophilia, hereditary, 162830 (3)
CSRP3	600824	Cardiomyopathy, dilated, 1M, 607482 (3)
CSRP3	600824	Cardiomyopathy, familial hypertrophic, 12, 612124 (3)
CST3	604312	Cerebral amyloid angiopathy, 105150 (3)
CST3	604312	Macular degeneration, age-related, 11, 611953 (3)
CSTA	184600	Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of Siemens-like, 607936 (3)
CSTB	601145	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3)
CTC1	613129	Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
CTDP1	604927	Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3)
CTH	607657	Cystathioninuria, 219500 (3)
CTH	607657	Homocysteine, total plasma, elevated (3)
CTHRC1	610635	Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
CTLA4	123890	{Celiac disease, susceptibility to, 3}, 609755 (3)
CTLA4	123890	{Diabetes mellitus, insulin-dependent, susceptibility to}, 601388 (3)
CTLA4	123890	{Graves disease, susceptibility to, 4} (3)
CTLA4	123890	{Hypothyroidism, autoimmune}, 140300 (3)
CTNNB1	116806	Colorectal cancer (3)
CTNNB1	116806	Hepatoblastoma (3)
CTNNB1	116806	Hepatocellular carcinoma, 114550 (3)
CTNNB1	116806	Ovarian cancer, 167000 (3)
CTNNB1	116806	Pilomatricoma, 132600 (3)
CTNS	606272	Cystinosis, atypical nephropathic (3)
CTNS	606272	Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3)
CTNS	606272	Cystinosis, nephropathic, 219800 (3)
CTNS	606272	Cystinosis, ocular nonnephropathic, 219750 (3)
CTRC	601405	{Pancreatitis, chronic, susceptibility to}, 167800 (3)
CTSA	613111	Galactosialidosis, 256540 (3)
CTSC	602365	Haim-Munk syndrome, 245010 (3)
CTSC	602365	Papillon-Lefevre syndrome, 245000 (3)
CTSC	602365	Periodontitis, juvenile, 170650 (3)
CTSD	116840	Ceroid lipofuscinosis, neuronal, 10, 610127 (3)
CTSK	601105	Pycnodysostosis, 265800 (3)
CUBN	602997	Megaloblastic anemia-1, Finnish type, 261100 (3)
CUL3	603136	Pseudohypoaldosteronism, type IIE, 614496 (3)
CUL4B	300304	Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3)
CUL7	609577	3-M syndrome 1, 273750 (3)
CX3CR1	601470	{Coronary artery disease, resistance to}, 607339 (3)
CX3CR1	601470	{Macular degeneration, age-related, 12}, 613784 (3)
CX3CR1	601470	{Rapid progression to AIDS from HIV1 infection}, 609423 (3)
CXCL12	600835	{AIDS, resistance to}, 609423 (3)
CXCR1	146929	{AIDS, slow progression to}, 609423 (3)
CXCR4	162643	Myelokathexis, isolated (3)
CXCR4	162643	WHIM syndrome, 193670 (3)
CYB5A	613218	Methemoglobinemia, type IV, 250790 (3)
CYB5R3	613213	Methemoglobinemia, type I, 250800 (3)
CYB5R3	613213	Methemoglobinemia, type II, 250800 (3)
CYBA	608508	Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
CYBB	300481	Atypical mycobacteriosis, familial, X-linked 2, 300645 (3)
CYBB	300481	Chronic granulomatous disease, X-linked, 306400 (3)
CYCS	123970	Thrombocytopenia 4, 612004 (3)
CYLD	605018	Brooke-Spiegler syndrome, 605041 (3)
CYLD	605018	Cylindromatosis, familial, 132700 (3)
CYLD	605018	Trichoepithelioma, multiple familial, 1, 601606 (3)
CYP11A1	118485	Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)
CYP11B1	610613	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3)
CYP11B1	610613	Aldosteronism, glucocorticoid-remediable, 103900 (3)
CYP11B2	124080	Aldosterone to renin ratio raised (3)
CYP11B2	124080	Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
CYP11B2	124080	Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)
CYP11B2	124080	{Low renin hypertension, susceptibility to} (3)
CYP17A1	609300	17,20-lyase deficiency, isolated, 202110 (3)
CYP17A1	609300	17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3)
CYP19A1	107910	Aromatase deficiency, 613546 (3)
CYP19A1	107910	Aromatase excess syndrome, 139300 (3)
CYP1B1	601771	Glaucoma 3A, primary congenital, 231300 (3)
CYP1B1	601771	Glaucoma, early-onset, digenic (3)
CYP1B1	601771	Glaucoma, primary open angle, adult-onset, 137760 (3)
CYP1B1	601771	Glaucoma, primary open angle, juvenile-onset, 137750 (3)
CYP1B1	601771	Peters anomaly, 604229 (3)
CYP21A2	613815	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)
CYP21A2	613815	Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
CYP24A1	126065	Hypercalcemia, infantile, 143880 (3)
CYP27A1	606530	Cerebrotendinous xanthomatosis, 213700 (3)
CYP27B1	609506	Vitamin D-dependent rickets, type I, 264700 (3)
CYP2A6	122720	Coumarin resistance, 122700 (3)
CYP2A6	122720	{Lung cancer, resistance to}, 211980 (3)
CYP2A6	122720	{Nicotine addiction, protection from}, 188890 (3)
CYP2B6	123930	Efavirenz, poor metabolism of, 614546 (3)
CYP2B6	123930	{Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3)
CYP2C19	124020	Clopidogrel, impaired responsiveness to, 609535 (3)
CYP2C19	124020	Mephenytoin poor metabolizer, 609535 (3)
CYP2C19	124020	Opremazole poor metabolizer, 609535 (3)
CYP2C19	124020	Proguanil poor metabolizer, 609535 (3)
CYP2C8	601129	Rhabdomyolysis, cerivastatin-induced (3)
CYP2C9	601130	Tolbutamide poor metabolizer (3)
CYP2C9	601130	Warfarin sensitivity, 122700 (3)
CYP2D6	124030	{Codeine sensitivity}, 608902 (3)
CYP2D6	124030	{Debrisoquine sensitivity}, 608902 (3)
CYP2R1	608713	Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3)
CYP3A5	605325	{Hypertension, salt-sensitive essential, susceptibility to}, 145500 (3)
CYP4F22	611495	Ichthyosis, lamellar, 3, 604777 (3)
CYP4V2	608614	Bietti crystalline corneoretinal dystrophy, 210370 (3)
CYP7B1	603711	Bile acid synthesis defect, congenital, 3, 613812 (3)
CYP7B1	603711	Spastic paraplegia-5A, 270800 (3)
D2HGDH	609186	D-2-hydroxyglutaric aciduria, 600721 (3)
DAG1	128239	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 613818 (3)
DARC	613665	[Blood group, Duffy system], 110700 (3)
DARC	613665	[White blood cell count QTL], 611862 (3)
DARC	613665	{Malaria, vivax, protection against}, 611162 (3)
DARS2	610956	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3)
DAZL	601486	{Spermatogenic failure, susceptibility to} (3)
DBH	609312	Dopamine beta-hydroxylase deficiency, 223360 (3)
DBH	609312	[Dopamine-beta-hydroxylase activity levels, plasma] (3)
DBT	248610	Maple syrup urine disease, type II, 248600 (3)
DCAF17	612515	Woodhouse-Sakati syndrome, 241080 (3)
DCC	120470	Colorectal cancer (3)
DCC	120470	Mirror movements, congenital, 157600 (3)
DCLRE1C	605988	Omenn syndrome, 603554 (3)
DCLRE1C	605988	Severe combined immunodeficiency, Athabascan type, 602450 (3)
DCN	125255	Corneal dystrophy, congenital stromal, 610048 (3)
DCTN1	601143	Neuropathy, distal hereditary motor, type VIIB, 607641 (3)
DCTN1	601143	Perry syndrome, 168605 (3)
DCTN1	601143	{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
DCX	300121	Lissencephaly, X-linked, 300067 (3)
DCX	300121	Subcortical laminal heteropia, X-linked, 300067 (3)
DDB2	600811	Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3)
DDC	107930	Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
DDOST	602202	Congenital disorder of glycosylation, type Ir, 614507 (3)
DDR2	191311	Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3)
DDX11	601150	Warsaw breakage syndrome, 613398 (3)
DES	125660	Cardiomyopathy, dilated, 1I, 604765 (3)
DES	125660	Myopathy, desmin-related, cardioskeletal, 601419 (3)
DES	125660	Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3)
DFNA5	608798	Deafness, autosomal dominant 5, 600994 (3)
DFNB31	607928	Deafness, autosomal recessive 31, 607084 (3)
DFNB31	607928	Usher syndrome, type 2D, 611383 (3)
DFNB59	610219	Deafness, autosomal recessive 59, 610220 (3)
DGUOK	601465	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3)
DHCR24	606418	Desmosterolosis, 602398 (3)
DHCR7	602858	Smith-Lemli-Opitz syndrome, 270400 (3)
DHDDS	608172	Retinitis pigmentosa 59, 613861 (3)
DHFR	126060	Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 (3)
DHH	605423	46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080 (3)
DHH	605423	46XY sex reversal 7, 233420 (3)
DHODH	126064	Miller syndrome, 263750 (3)
DIABLO	605219	Deafness, autosomal dominant 64, 614152 (3)
DIAPH1	602121	Deafness, autosomal dominant 1, 124900 (3)
DIAPH2	300108	Premature ovarian failure, 300511 (3)
DICER1	606241	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, 138800 (3)
DICER1	606241	Pleuropulmonary blastoma, 601200 (3)
DIP2B	611379	Mental retardation, FRA12A type, 136630 (3)
DIS3L2	614184	Perlman syndrome, 267000 (3)
DISC1	605210	{Schizoaffective disorder, susceptibility to}, 181500 (3)
DISC1	605210	{Schizophrenia, susceptibility to}, 604906 (3)
DKC1	300126	Dyskeratosis congenita, X-linked, 305000 (3)
DKC1	300126	Hoyeraal-Hreidarsson syndrome, 300240 (3)
DLAT	608770	Pyruvate dehydrogenase E2 deficiency, 245348 (3)
DLC1	604258	Colorectal cancer, somatic (3)
DLD	238331	Leigh syndrome, 256000 (3)
DLD	238331	Maple syrup urine disease, type III, 248600 (3)
DLG3	300189	Mental retardation, X-linked 90, 300850 (3)
DLL3	602768	Spondylocostal dysostosis, autosomal recessive, 1, 277300 (3)
DLX3	600525	Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism, 104510 (3)
DLX3	600525	Trichodontoosseous syndrome, 190320 (3)
DLX5	600028	Split-hand/foot malformation 1 with sensorineural hearing loss, 220600 (3)
DMD	300377	Becker muscular dystrophy, 300376 (3)
DMD	300377	Cardiomyopathy, dilated, 3B, 302045 (3)
DMD	300377	Duchenne muscular dystrophy, 310200 (3)
DMGDH	605849	Dimethylglycine dehydrogenase deficiency, 605850 (3)
DMP1	600980	Hypophosphatemic rickets, AR, 241520 (3)
DMPK	605377	Myotonic dystrophy 1, 160900 (3)
DNAAF1	613190	Ciliary dyskinesia, primary, 13, 613193 (3)
DNAAF2	612517	Ciliary dyskinesia, primary, 10, 612518 (3)
DNAH11	603339	Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DNAH5	603335	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DNAI1	604366	Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)
DNAI2	605483	Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
DNAJC19	608977	3-methylglutaconic aciduria, type V, 610198 (3)
DNAJC5	611203	Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 (3)
DNAL1	610062	Ciliary dyskinesia, primary, 16, 614017 (3)
DNASE1	125505	{Systemic lupus erythematosus, susceptibility to}, 152700 (3)
DNASE1L3	602244	Systemic lupus erythematosus 16, 614420 (3)
DNM1L	603850	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 (3)
DNM2	602378	Charcot-Marie-Tooth disease, axonal, type 2M, 606482 (3)
DNM2	602378	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3)
DNM2	602378	Myopathy, centronuclear, 160150 (3)
DNMT1	126375	Neuropathy, hereditary sensory, type IE, 614116 (3)
DNMT3B	602900	Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
DOCK6	614194	Adams-Oliver syndrome 2, 614219 (3)
DOCK8	611432	Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
DOCK8	611432	Mental retardation, autosomal dominant 2, 614113 (3)
DOK7	610285	Fetal akinesia deformation sequence, 208150 (3)
DOK7	610285	Myasthenia, limb-girdle, familial, 254300 (3)
DOLK	610746	Congenital disorder of glycosylation, type Im, 610768 (3)
DPAGT1	191350	Congenital disorder of glycosylation, type Ij, 608093 (3)
DPM1	603503	Congenital disorder of glycosylation, type Ie, 608799 (3)
DPM3	605951	Congenital disorder of glycosylation, type Io, 612937 (3)
DPP6	126141	Ventricular fibrillation, paroxysmal familial, 2, 612956 (3)
DPY19L2	613893	Spermatogenic failure 9, 613958 (3)
DPYD	612779	5-fluorouracil toxicity, 274270 (3)
DPYD	612779	Dihydropyrimidine dehydrogenase deficiency, 274270 (3)
DPYS	613326	Dihydropyrimidinuria, 222748 (3)
DRD2	126450	Dystonia, myoclonic, 159900 (3)
DRD3	126451	{Essential tremor, susceptibility to}, 190300 (3)
DRD3	126451	{Schizophrenia, susceptibility to}, 181500 (3)
DRD4	126452	Autonomic nervous system dysfunction (3)
DRD4	126452	{Attention deficit-hyperactivity disorder}, 143465 (3)
DRD5	126453	Dystonia, primary cervical (3)
DRD5	126453	{Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3)
DRD5	126453	{Blepharospasm, primary benign}, 606798 (3)
DSC2	125645	Arrhythmogenic right ventricular dysplasia 11, 610476 (3)
DSC3	600271	Hypotrichosis and recurrent skin vesicles, 613102 (3)
DSG1	125670	Keratosis palmoplantaris striata I, 148700 (3)
DSG2	125671	Arrhythmogenic right ventricular dysplasia 10, 610193 (3)
DSG2	125671	Cardiomyopathy, dilated, 1BB, 612877 (3)
DSG4	607892	Hypotrichosis, localized, autosomal recessive, 607903 (3)
DSP	125647	Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
DSP	125647	Dilated cardiomyopathy with woolly hair and keratoderma, 605676 (3)
DSP	125647	Epidermolysis bullosa, lethal acantholytic, 609638 (3)
DSP	125647	Keratosis palmoplantaris striata II, 612908 (3)
DSP	125647	Skin fragility-woolly hair syndrome, 607655 (3)
DSPP	125485	Deafness, autosomal dominant 36, with dentinogenesis, 605594 (3)
DSPP	125485	Dentin dysplasia, type II, 125420 (3)
DSPP	125485	Dentinogenesis imperfecta, Shields type II, 125490 (3)
DSPP	125485	Dentinogenesis imperfecta, Shields type III, 125500 (3)
DTNA	601239	Left ventricular noncompaction 1, with or without congenital heart defects, 604169 (3)
DTNBP1	607145	Hermansky-Pudlak syndrome 7, 614076 (3)
DUOX2	606759	Thryoid dyshormonogenesis 6, 607200 (3)
DUOXA2	612772	Thyroid dyshormonogenesis 5, 274900 (3)
DYM	607461	Dyggve-Melchior-Clausen disease, 223800 (3)
DYM	607461	Smith-McCort dysplasia, 607326 (3)
DYNC1H1	600112	Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3)
DYNC2H1	603297	Asphyxiating thoracic dystrophy 3, 613091 (3)
DYNC2H1	603297	Short rib-polydactyly syndrome, type II, digenic, 263520 (3)
DYNC2H1	603297	Short rib-polydactyly syndrome, type III, 263510 (3)
DYRK1A	600855	Mental retardation, autosomal dominant 7, 614104 (3)
DYSF	603009	Miyoshi muscular dystrophy 1, 254130 (3)
DYSF	603009	Muscular dystrophy, limb-girdle, type 2B, 253601 (3)
DYSF	603009	Myopathy, distal, with anterior tibial onset, 606768 (3)
DYX1C1	608706	{Dyslexia, susceptibility to, 1}, 127700 (3)
EBP	300205	Chondrodysplasia punctata, X-linked dominant, 302960 (3)
ECE1	600423	Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3)
ECE1	600423	{Hypertension, essential, susceptibility to}, 145500 (3)
ECM1	602201	Lipoid proteinosis, 247100 (3)
EDA	300451	Ectodermal dysplasia, anhidrotic, X-linked, 305100 (3)
EDA	300451	Tooth agenesis, selective, X-linked 1, 313500 (3)
EDAR	604095	Ectodermal dysplasia, hypohidrotic, autosomal dominant, 129490 (3)
EDAR	604095	Ectodermal dysplasia, hypohidrotic, autosomal recessive, 224900 (3)
EDAR	604095	[Hair morphology 1, hair thickness], 612630 (3)
EDARADD	606603	Ectodermal dysplasia, anhidrotic, autosomal dominant, 129490 (3)
EDARADD	606603	Ectodermal dysplasia, anhidrotic, autosomal recessive, 224900 (3)
EDN1	131240	[High density lipoprotein cholesterol level QTL 7] (3)
EDN3	131242	Central hypoventilation syndrome, congenital, 209880 (3)
EDN3	131242	Waardenburg syndrome, type 4B, 613265 (3)
EDN3	131242	{Hirschsprung disease, susceptibility to, 4}, 613712 (3)
EDNRA	131243	Migraine, resistance to, 157300 (3)
EDNRB	131244	ABCD syndrome, 600501 (3)
EDNRB	131244	Waardenburg syndrome, type 4A, 277580 (3)
EDNRB	131244	{Hirschsprung disease, susceptibility to, 2}, 600155 (3)
EFEMP1	601548	Doyne honeycomb degeneration of retina, 126600 (3)
EFEMP2	604633	Cutis laxa, autosomal recessive, type IB, 614437 (3)
EFHC1	608815	{Epilepsy, juvenile absence, susceptibility to, 1}, 607631 (3)
EFHC1	608815	{Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3)
EFNB1	300035	Craniofrontonasal dysplasia, 304110 (3)
EFTUD2	603892	Mandibulofacial dysostosis with microcephaly, 610536 (3)
EGF	131530	Hypomagnesemia 4, renal, 611718 (3)
EGFR	131550	Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)
EGFR	131550	Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)
EGFR	131550	{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
EGLN1	606425	Erythrocytosis, familial, 3, 609820 (3)
EGR2	129010	Charcot-Marie-Tooth disease, type 1D, 607678 (3)
EGR2	129010	Dejerine-Sottas disease, 145900 (3)
EGR2	129010	Neuropathy, congenital hypomyelinating, 1, 605253 (3)
EHBP1	609922	{Prostate cancer, hereditary, 12}, 611868 (3)
EHMT1	607001	Kleefstra syndrome, 610253 (3)
EIF2AK3	604032	Wolcott-Rallison syndrome, 226980 (3)
EIF2B1	606686	Leukoencephalopathy with vanishing white matter, 603896 (3)
EIF2B2	606454	Leukoencephalopathy with vanishing white matter, 603896 (3)
EIF2B2	606454	Ovarioleukodystrophy, 603896 (3)
EIF2B3	606273	Leukoencephalopathy with vanishing white matter, 603896 (3)
EIF2B4	606687	Leukoencephaly with vanishing white matter, 603896 (3)
EIF2B4	606687	Ovarioleukodystrophy, 603896 (3)
EIF2B5	603945	Leukoencephalopathy with vanishing white matter, 603896 (3)
EIF2B5	603945	Ovarioleukodystrophy, 603896 (3)
EIF4G1	600495	Parkinson disease 18, 614251 (3)
ELAC2	605367	{Prostate cancer, susceptibility to}, 176807 (3)
ELANE	130130	Neutropenia, cyclic, 162800 (3)
ELANE	130130	Neutropenia, severe congenital 1, autosomal dominant, 202700 (3)
ELN	130160	Cutis laxa, AD, 123700 (3)
ELN	130160	Supravalvar aortic stenosis, 185500 (3)
ELOVL4	605512	Ichthyosis, spastic quadriplegia, and mental retardation, 614457 (3)
ELOVL4	605512	Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110 (3)
ELOVL4	605512	Stargardt disease 3, 600110 (3)
EMD	300384	Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)
EMG1	611531	Bowen-Conradi syndrome, 211180 (3)
EMX2	600035	Schizencephaly, 269160 (3)
EN2	131310	{Autism susceptibility 10}, 611016 (3)
ENAM	606585	Amelogenesis imperfecta, type IB, 104500 (3)
ENAM	606585	Amelogenesis imperfecta, type IC, 204650 (3)
ENG	131195	Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3)
ENO3	131370	Glycogen storage disease XIII, 612932 (3)
ENPP1	173335	Arterial calcification, generalized, of infancy, 1, 208000 (3)
ENPP1	173335	Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3)
ENPP1	173335	Ossification of posterior longitudinal ligament of spine, 602475 (3)
ENPP1	173335	{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3)
ENPP1	173335	{Obesity, susceptibility to}, 601665 (3)
EP300	602700	Colorectal cancer, 114500 (3)
EP300	602700	Rubinstein-Taybi syndrome 2, 613684 (3)
EPAS1	603349	Erythrocytosis, familial, 4, 611783 (3)
EPB41	130500	Elliptocytosis-1, 611804 (3)
EPB41L1	602879	Mental retardation, autosomal dominant 11, 614257 (3)
EPB42	177070	Spherocytosis, hereditary, type 5, 612690 (3)
EPCAM	185535	Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3)
EPCAM	185535	Diarrhea 5, with tufting enteropathy, congenital, 613217 (3)
EPHA2	176946	Cataract, age-related cortical, 2, 613020 (3)
EPHA2	176946	Cataract, posterior polar, 1, 116600 (3)
EPHB2	600997	Prostate cancer, progression and metastasis of, 603688 (3)
EPHX1	132810	Hypercholanemia, familial, 607748 (3)
EPHX1	132810	{Preeclampsia, susceptibility to}, 189800 (3)
EPHX2	132811	{Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3)
EPM2A	607566	Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3)
EPO	133170	{Microvascular complications of diabetes 2}, 612623 (3)
EPOR	133171	[Erythrocytosis, familial, 1], 133100 (3)
EPX	131399	Eosinophil peroxidase deficiency, 261500 (3)
ERBB2	164870	Adenocarcinoma of lung, somatic, 211980 (3)
ERBB2	164870	Gastric cancer, somatic, 137215 (3)
ERBB2	164870	Glioblastoma, somatic, 137800 (3)
ERBB2	164870	Ovarian cancer, somatic, (3)
ERBB3	190151	Lethal congenital contractural syndrome 2, 607598 (3)
ERCC1	126380	Cerebrooculofacioskeletal syndrome 4, 610758 (3)
ERCC2	126340	Cerebrooculofacioskeletal syndrome 2, 610756 (3)
ERCC2	126340	Trichothiodystrophy, 601675 (3)
ERCC2	126340	Xeroderma pigmentosum, group D, 278730 (3)
ERCC3	133510	Trichothiodystrophy, 601675 (3)
ERCC3	133510	Xeroderma pigmentosum, group B, 610651 (3)
ERCC4	133520	XFE progeroid syndrome, 610965 (3)
ERCC4	133520	Xeroderma pigmentosum, group F, 278760 (3)
ERCC5	133530	Cerebrooculofacioskeletal syndrome 3 (3)
ERCC5	133530	Xeroderma pigmentosum, group G, 278780 (3)
ERCC6	609413	Cerebrooculofacioskeletal syndrome 1, 214150 (3)
ERCC6	609413	Cockayne syndrome, type B, 133540 (3)
ERCC6	609413	De Sanctis-Cacchione syndrome, 278800 (3)
ERCC6	609413	UV-sensitive syndrome, 600630 (3)
ERCC6	609413	{Lung cancer, susceptibility to}, 211980 (3)
ERCC6	609413	{Macular degeneration, age-related, susceptibility to 5}, 613761 (3)
ERCC8	609412	Cockayne syndrome, type A, 216400 (3)
ERLIN2	611605	Spastic paraplegia-18, 611225 (3)
ERMAP	609017	[Blood group, Radin], 111620 (3)
ERMAP	609017	[Blood group, Scianna system], 111750 (3)
ESCO2	609353	Roberts syndrome, 268300 (3)
ESCO2	609353	SC phocomelia syndrome, 269000 (3)
ESPN	606351	Deafness, autosomal recessive 36, 609006 (3)
ESPN	606351	Deafness, neurosensory, without vestibular involvement, autosomal dominant (3)
ESR1	133430	Estrogen resistance (3)
ESR1	133430	{Atherosclerosis, susceptibility to} (3)
ESR1	133430	{HDL response to hormone replacement, augmented} (3)
ESR1	133430	{Migraine, susceptibility to}, 157300 (3)
ESR1	133430	{Myocardial infarction, susceptibility to}, 608446 (3)
ESRRB	602167	Deafness, autosomal recessive 35, 608565 (3)
ETFA	608053	Glutaric acidemia IIA, 231680 (3)
ETFB	130410	Glutaric acidemia IIB, 231680 (3)
ETFDH	231675	Glutaric acidemia IIC, 231680 (3)
ETHE1	608451	Ethylmalonic encephalopathy, 602473 (3)
ETV6	600618	Leukemia, acute myeloid, somatic, 601626 (3)
EVC	604831	Ellis-van Creveld syndrome, 225500 (3)
EVC	604831	Weyers acrodental dysostosis, 193530 (3)
EVC2	607261	Ellis-van Creveld syndrome, 225500 (3)
EWSR1	133450	Ewing sarcoma, 612219 (3)
EWSR1	133450	Neuroepithelioma, 612219 (3)
EXT1	608177	Chondrosarcoma, 215300 (3)
EXT1	608177	Exostoses, multiple, type 1, 133700 (3)
EXT2	608210	Exostoses, multiple, type 2, 133701 (3)
EYA1	601653	Anterior segment anomalies and cataract (3)
EYA1	601653	Branchiootic syndrome (3)
EYA1	601653	Branchiootorenal syndrome with cataract, 113650 (3)
EYA1	601653	Branchiootorenal syndrome, 113650 (3)
EYA1	601653	Otofaciocervical syndrome, 166780 (3)
EYA4	603550	Cardiomyopathy, dilated, 1J, 605362 (3)
EYA4	603550	Deafness, autosomal dominant 10, 601316 (3)
EYS	612424	Retinitis pigmentosa 25, 602772 (3)
EZH2	601573	Weaver syndrome 2, 614421 (3)
F10	613872	Factor X deficiency, 227600 (3)
F11	264900	Factor XI deficiency, autosomal dominant, 612416 (3)
F11	264900	Factor XI deficiency, autosomal recessive, 612416 (3)
F12	610619	Angioedema, hereditary, type III, 610618 (3)
F12	610619	Factor XII deficiency, 234000 (3)
F13A1	134570	Factor XIIIA deficiency, 613225 (3)
F13A1	134570	{Myocardial infarction, protection against}, 608446 (3)
F13A1	134570	{Venous thrombosis, protection against}, 188050 (3)
F13B	134580	Factor XIIIB deficiency, 613235 (3)
FA2H	611026	Spastic paraplegia 35, autosomal recessive, 612319 (3)
FAAH	602935	{Drug addiction, susceptibility to} (3)
FADD	602457	Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malforamtions, 613759 (3)
FAH	613871	Tyrosinemia, type I, 276700 (3)
FAM123B	300647	Osteopathia striata with cranial sclerosis, 300373 (3)
FAM126A	610531	Leukodystrophy, hypomyelinating, 5, 610532 (3)
FAM134B	613114	Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
FAM161A	613596	Retinitis pigmentosa 28, 606068 (3)
FAM20A	611062	Amelogenesis imperfecta and gingival fibromatosis syndrome, 614253 (3)
FAM20C	611061	Raine syndrome, 259775 (3)
FAM58A	300708	STAR syndrome, 300707 (3)
FAM83H	611927	Amelogenesis imperfecta, type 3, 130900 (3)
FANCA	607139	Fanconi anemia, complementation group A, 227650 (3)
FANCB	300515	Fanconi anemia, complementation group B, 300514 (3)
FANCC	613899	Fanconi anemia, complementation group C, 227645 (3)
FANCD2	613984	Fanconi anemia, complementation group D2, 227646 (3)
FANCE	613976	Fanconi anemia, complementation group E, 600901 (3)
FANCF	613897	Fanconi anemia, complementation group F, 603467 (3)
FANCG	602956	Fanconi anemia, complementation group G, 614082 (3)
FANCI	611360	Fanconi anemia, complementation group I, 609053 (3)
FANCL	608111	Fanconi anemia, complementation group L, 614083 (3)
FANCM	609644	Fanconi anemia, complementation group M, 614087 (3)
FAS	134637	Autoimmune lymphoproliferative syndrome, type IA, 601859 (3)
FAS	134637	Squamous cell carcinoma, burn scar-related, somatic (3)
FAS	134637	{Autoimmune lymphoproliferative syndrome}, 601859 (3)
FASLG	134638	{Systemic lupus erythematosus, susceptibility}, 152700 (3)
FASTKD2	612322	Mitochondrial complex IV deficiency, 220110 (3)
FBLN1	135820	Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (3)
FBLN5	604580	Cutis laxa, autosomal dominant 2, 614434 (3)
FBLN5	604580	Cutis laxa, autosomal recessive, type IA, 219100 (3)
FBLN5	604580	Macular degeneration, age-related, 3, 608895 (3)
FBN1	134797	Acromicric dysplasia, 102370 (3)
FBN1	134797	Aortic aneurysm, ascending, and dissection (3)
FBN1	134797	Ectopia lentis, familial, 129600 (3)
FBN1	134797	Geleophysic dysplasia 2, 614185 (3)
FBN1	134797	MASS syndrome, 604308 (3)
FBN1	134797	Marfan syndrome, 154700 (3)
FBN1	134797	Shprintzen-Goldberg syndrome, 182212 (3)
FBN1	134797	Stiff skin syndrome, 184900 (3)
FBN1	134797	Weill-Marchesani syndrome 2, dominant, 608328 (3)
FBN2	612570	Contractural arachnodactyly, congenital, 121050 (3)
FBP1	611570	Fructose-1,6-bidphosphatase deficiency, 229700 (3)
FBXO33	609103	[Bone mineral density QTL 12], 612560 (3)
FBXO7	605648	Parkinson disease 15, autosomal recessive, 260300 (3)
FCGR1A	146760	[IgG receptor I, phagocytic, familial deficiency of] (3)
FCGR2A	146790	{Lupus nephritis, susceptibility to} (3)
FCGR2B	604590	{Malaria, resistance to}, 611162 (3)
FCGR2B	604590	{Systemic lupus erythematosus, susceptibility to}, 152700 (3)
FCGR3A	146740	Neutropenia, alloimmune neonatal (3)
FCGR3A	146740	{Viral infections, recurrent} (3)
FCN3	604973	Immunodeficiency due to ficolin 3 deficiency, 613860 (3)
FECH	612386	Protoporphyria, erythropoietic, autosomal recessive, 177000 (3)
FERMT1	607900	Kindler syndrome, 173650 (3)
FERMT3	607901	Leukocyte adhesion deficiency, type III, 612840 (3)
FGA	134820	Afibrinogenemia, congenital, 202400 (3)
FGA	134820	Amyloidosis, hereditary renal, 105200 (3)
FGA	134820	Dysfibrinogenemia, alpha type, causing bleeding diathesis (3)
FGA	134820	Dysfibrinogenemia, alpha type, causing recurrent thrombosis (3)
FGB	134830	Afibrinogenemia, congenital, 202400 (3)
FGB	134830	Dysfibrinogenemia, beta type (3)
FGB	134830	Thrombophilia, dysfibrinogenemic (3)
FGD1	300546	Aarskog-Scott syndrome, 305400 (3)
FGD1	300546	Mental retardation, X-linked syndromic 16, 305400 (3)
FGD4	611104	Charcot-Marie-Tooth disease, type 4H, 609311 (3)
FGF10	602115	Aplasia of lacrimal and salivary glands, 180920 (3)
FGF10	602115	LADD syndrome, 149730 (3)
FGF14	601515	Spinocerebellar ataxia 27, 609307 (3)
FGF23	605380	Hypophosphatemic rickets, autosomal dominant, 193100 (3)
FGF23	605380	Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3)
FGF3	164950	Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 (3)
FGF8	600483	Kallmann syndrome 6, 612702 (3)
FGF9	600921	Multiple synostoses syndrome 3, 612961 (3)
FGFR1	136350	Hypogonadotropic hypogonadism, 146110 (3)
FGFR1	136350	Jackson-Weiss syndrome, 123150 (3)
FGFR1	136350	Kallmann syndrome 2, 147950 (3)
FGFR1	136350	Osteoglophonic dysplasia, 166250 (3)
FGFR1	136350	Pfeiffer syndrome, 101600 (3)
FGFR1	136350	Trigonocephaly 1, 190440 (3)
FGFR2	176943	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3)
FGFR2	176943	Apert syndrome, 101200 (3)
FGFR2	176943	Beare-Stevenson cutis gyrata syndrome, 123790 (3)
FGFR2	176943	Craniofacial-skeletal-dermatologic dysplasia (3)
FGFR2	176943	Craniosynostosis, nonspecific (3)
FGFR2	176943	Crouzon syndrome, 123500 (3)
FGFR2	176943	Gastric cancer, somatic, 137215 (3)
FGFR2	176943	Jackson-Weiss syndrome, 123150 (3)
FGFR2	176943	LADD syndrome, 149730 (3)
FGFR2	176943	Pfeiffer syndrome, 101600 (3)
FGFR2	176943	Saethre-Chotzen syndrome, 101400 (3)
FGFR2	176943	Scaphocephaly and Axenfeld-Rieger anomaly (3)
FGFR2	176943	Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)
FGFR3	134934	Achondroplasia, 100800 (3)
FGFR3	134934	Bladder cancer, somatic, 109800 (3)
FGFR3	134934	CATSHL syndrome, 610474 (3)
FGFR3	134934	Cervical cancer, somatic, 603956 (3)
FGFR3	134934	Colorectal cancer, somatic, 114500 (3)
FGFR3	134934	Crouzon syndrome with acanthosis nigricans, 612247 (3)
FGFR3	134934	Hypochondroplasia, 146000 (3)
FGFR3	134934	LADD syndrome, 149730 (3)
FGFR3	134934	Muenke syndrome, 602849 (3)
FGFR3	134934	Nevus, keratinocytic, nonepidermolytic, 162900 (3)
FGFR3	134934	Spermatocytic seminoma, somatic, 273300 (3)
FGFR3	134934	Thanatophoric dysplasia, type I, 187600 (3)
FGFR3	134934	Thanatophoric dysplasia, type II, 187601 (3)
FGFR4	134935	{Cancer progression/metastasis} (3)
FGG	134850	Dysfibrinogenemia, gamma type (3)
FGG	134850	Hypofibrinogenemia, gamma type (3)
FGG	134850	Thrombophilia, dysfibrinogenemic (3)
FHL1	300163	Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3)
FHL1	300163	Myopathy, X-linked, with postural muscle atrophy, 300696 (3)
FHL1	300163	Myopathy, reducing body, X-linked, childhood-onset, 300718 (3)
FHL1	300163	Myopathy, reducing body, X-linked, severe early-onset, 300717 (3)
FHL1	300163	Scapuloperoneal myopathy, X-linked dominant, 300695 (3)
FIG4	609390	Amyotrophic lateral sclerosis 11, 612577 (3)
FIG4	609390	Charcot-Marie-Tooth disease, type 4J, 611228 (3)
FIGLA	608697	Premature ovarian failure 6, 612310 (3)
FKBP10	607063	Osteogenesis imperfecta, type XI, 610968 (3)
FKBP14	614505	Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 (3)
FKBP5	602623	{Major depressive disorder and accelerated response to antidepressant drug treatment}, 608516 (3)
FKRP	606596	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3)
FKRP	606596	Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612 (3)
FKRP	606596	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 (3)
FKTN	607440	Cardiomyopathy, dilated, 1X, 611615 (3)
FKTN	607440	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3)
FKTN	607440	Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152 (3)
FKTN	607440	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 (3)
FLCN	607273	Birt-Hogg-Dube syndrome, 135150 (3)
FLCN	607273	Colorectal cancer, somatic, 114500 (3)
FLCN	607273	Pneumothorax, primary spontaneous, 173600 (3)
FLCN	607273	Renal carcinoma, chromophobe, somatic, 144700 (3)
FLG	135940	Ichthyosis vulgaris, 146700 (3)
FLG	135940	{Dermatitis, atopic, susceptibility to, 2}, 605803 (3)
FLNA	300017	Cardiac valvular dysplasia, X-linked, 314400 (3)
FLNA	300017	FG syndrome 2, 300321 (3)
FLNA	300017	Frontometaphyseal dysplasia, 305620 (3)
FLNA	300017	Heterotopia, periventricular, 300049 (3)
FLNA	300017	Heterotopia, periventricular, ED variant, 300537 (3)
FLNA	300017	Intestinal pseudoobstruction, neuronal, 300048 (3)
FLNA	300017	Melnick-Needles syndrome, 309350 (3)
FLNA	300017	Otopalatodigital syndrome, type I, 311300 (3)
FLNA	300017	Otopalatodigital syndrome, type II, 304120 (3)
FLNA	300017	Terminal osseous dysplasia, 300244 (3)
FLNB	603381	Atelosteogenesis, type I, 108720 (3)
FLNB	603381	Atelosteogenesis, type III, 108721 (3)
FLNB	603381	Boomerang dysplasia, 112310 (3)
FLNB	603381	Larsen syndrome, 150250 (3)
FLNB	603381	Spondylocarpotarsal synostosis syndrome, 272460 (3)
FLNC	102565	Myopathy, distal, 4, 614065 (3)
FLNC	102565	Myopathy, myofibrillar, 5, 609524 (3)
FLT3	136351	Leukemia, acute lymphoblastic (3)
FLT3	136351	Leukemia, acute myeloid, 601626 (3)
FLT3	136351	Leukemia, acute myeloid, reduced survival in (3)
FLT4	136352	Hemangioma, capillary infantile, somatic, 602089 (3)
FLT4	136352	Lymphedema, hereditary I, 153100 (3)
FLVCR1	609144	Ataxia, posterior column, with retinitis pigmentosa, 609033 (3)
FLVCR2	610865	Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790 (3)
FMO3	136132	Trimethylaminuria, 602079 (3)
FMR1	309550	Fragile X syndrome, 300624 (3)
FMR1	309550	Fragile X tremor/ataxia syndrome, 300623 (3)
FMR1	309550	Premature ovarian failure 1, 311360 (3)
FN1	135600	Glomerulopathy with fibronectin deposits 2, 601894 (3)
FOLR1	136430	Neurodegeneration due to cerebral folate transport deficiency, 613068 (3)
FOXC1	601090	Axenfeld-Rieger syndrome, type 3, 602482 (3)
FOXC1	601090	Iridogoniodysgenesis, type 1, 601631 (3)
FOXC1	601090	Iris hypoplasia and glaucoma, 601631 (3)
FOXC1	601090	Rieger or Axenfeld anomalies, 602482 (3)
FOXC2	602402	Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 (3)
FOXC2	602402	Lymphedema-distichiasis syndrome, 153400 (3)
FOXD3	611539	{Autoimmune disease, susceptibility to, 1}, 607836 (3)
FOXE1	602617	Bamforth-Lazarus syndrome, 241850 (3)
FOXE3	601094	Anterior segment mesenchymal dysgenesis, 107250 (3)
FOXE3	601094	Aphakia, congenital primary, 610256 (3)
FOXF1	601089	Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 (3)
FOXG1	164874	Rett syndrome, congenital variant, 613454 (3)
FOXI1	601093	Enlarged vestibular aqueduct, 600791 (3)
FOXL2	605597	Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 (3)
FOXL2	605597	Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100 (3)
FOXL2	605597	Premature ovarian failure 3, 608996 (3)
FOXN1	600838	T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3)
FOXO1	136533	Rhabdomyosarcoma, alveolar, 268220 (3)
FOXP1	605515	Mental retardation with language impairment and autistic features, 613670 (3)
FOXP2	605317	Speech-language disorder-1, 602081 (3)
FOXP3	300292	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3)
FOXP3	300292	{Diabetes mellitus, type I, susceptibility to}, 222100 (3)
FOXRED1	613622	Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
FOXRED1	613622	Mitochondrial complex I deficiency, 252010 (3)
FRAS1	607830	Fraser syndrome, 219000 (3)
FREM1	608944	Bifid nose with or without anorectal and renal anomalies, 608980 (3)
FREM1	608944	Manitoba oculotrichoanal syndrome, 248450 (3)
FREM1	608944	Trigonocephaly 2, 614485 (3)
FREM2	608945	Fraser syndrome, 219000 (3)
FRMD7	300628	Nystagmus 1, congenital, X-linked, 310700 (3)
FRMD7	300628	Nystagmus, infantile periodic alternating, X-linked, 310700 (3)
FRZB	605083	{Osteoarthritis susceptibility 1}, 165720 (3)
FSCN2	607643	Retinitis pigmentosa 30, 607921 (3)
FSHB	136530	Follicle-stimulating hormone deficiency, isolated, 229070 (3)
FSHR	136435	Ovarian dysgenesis 1, 233300 (3)
FSHR	136435	Ovarian hyperstimulation syndrome, 608115 (3)
FSHR	136435	Ovarian response to FSH stimulation, 276400 (3)
FTCD	606806	Glutamate formiminotransferase deficiency, 229100 (3)
FTH1	134770	Iron overload, autosomal dominant (3)
FTL	134790	Hyperferritinemia-cataract syndrome, 600886 (3)
FTL	134790	Neurodegeneration with brain iron accumulation 3, 606159 (3)
FTO	610966	Growth retardation, developmental delay, coarse facies, and early death, 612938 (3)
FTSJ1	300499	Mental retardation, X-linked 9, 309549 (3)
FUCA1	612280	Fucosidosis, 230000 (3)
FUS	137070	Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia, 608030 (3)
FUT1	211100	[Bombay phenotype] (3)
FUT2	182100	[Bombay phenotype] (3)
FUT2	182100	{Norwalk virus infection, resistance to} (3)
FUT2	182100	{Vitamin B12 plasma level QTL1}, 612542 (3)
FUT3	111100	[Blood group, Lewis] (3)
FUT6	136836	Fucosyltransferase 6 deficiency, 613852 (3)
FXN	606829	Friedreich ataxia with retained reflexes, 229300 (3)
FXN	606829	Friedreich ataxia, 229300 (3)
FXYD2	601814	Hypomagnesemia-2, renal, 154020 (3)
FYCO1	607182	Cataract, autosomal recessive congenital 2, 610019 (3)
FZD4	604579	Exudative vitreoretinopathy, 133780 (3)
FZD4	604579	Retinopathy of prematurity, 133780 (3)
FZD6	603409	Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157 (3)
G6PC	613742	Glycogen storage disease Ia, 232200 (3)
G6PC3	611045	Darsun syndrome, 612541 (3)
G6PC3	611045	Neutropenia, severe congenital 4, autosomal recessive, 612541 (3)
G6PD	305900	Favism (3)
G6PD	305900	G6PD deficiency (3)
G6PD	305900	Hemolytic anemia due to G6PD deficiency (3)
GAA	606800	Glycogen storage disease II, 232300 (3)
GABBR2	607340	{Nicotine dependence, protection against}, 188890 (3)
GABBR2	607340	{Nicotine dependence, susceptibility to}, 188890 (3)
GABRA1	137160	{Epilepsy, childhood absence, susceptibility to, 4}, 611136 (3)
GABRA1	137160	{Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136 (3)
GABRA2	137140	{Alcohol dependence, susceptibility to}, 103780 (3)
GABRB3	137192	Insomnia (3)
GABRB3	137192	{Epilepsy, childhood absence, susceptibility to, 5}, 612269 (3)
GABRD	137163	{Epilepsy, idiopathic generalized, 10}, 613060 (3)
GABRD	137163	{Epilepsy, juvenile myoclonic, susceptibility to}, 613060 (3)
GABRD	137163	{Generalized epilepsy with febrile seizures plus, type 5, susceptibility to}, 613060 (3)
GABRG2	137164	Dravet syndrome, 607208 (3)
GABRG2	137164	Epilepsy, generalized, with febrile seizures plus, type 3, 611277 (3)
GABRG2	137164	Febrile seizures, familial, 8, 611277 (3)
GABRG2	137164	{Epilepsy, childhood absence, susceptibility to, 2}, 607681 (3)
GAD1	605363	Cerebral palsy, spastic quadriplegic, 1, 603513 (3)
GALC	606890	Krabbe disease, 245200 (3)
GALE	606953	Galactose epimerase deficiency, 230350 (3)
GALK1	604313	Galactokinase deficiency with cataracts, 230200 (3)
GALNS	612222	Mucopolysaccharidosis IVA, 253000 (3)
GALNT12	610290	{Colorectal cancer, susceptibility to, 1}, 608812 (3)
GALNT3	601756	Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3)
GALT	606999	Galactosemia, 230400 (3)
GAMT	601240	GAMT deficiency, 612736 (3)
GAN	605379	Giant axonal neuropathy-1, 256850 (3)
GARS	600287	Charcot-Marie-Tooth disease, type 2D, 601472 (3)
GARS	600287	Neuropathy, distal hereditary motor, type V, 600794 (3)
GATA1	305371	Anemia, X-linked, without thrombocytopenia, 300835 (3)
GATA1	305371	Dyserythropoietic anemia with thrombocytopenia, 300367 (3)
GATA1	305371	Leukemia, megakaryoblastic, of Down syndrome, 190685 (3)
GATA1	305371	Leukemia, megakaryoblastic, with or without Down syndrome, 190685 (3)
GATA1	305371	Macrothrombocytopenia, 300367 (3)
GATA1	305371	Thrombocytopenia with beta-thalassemia, X-linked, 314050 (3)
GATA2	137295	Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172 (3)
GATA2	137295	Emberger syndrome, 614038 (3)
GATA2	137295	{Leukemia, acute myeloid, susceptibility to}, 601626 (3)
GATA2	137295	{Myelodysplastic syndrome, susceptibility to}, 614286 (3)
GATA3	131320	Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 (3)
GATA4	600576	Atrial septal defect 2, 607941 (3)
GATA4	600576	Atrioventricular septal defect 4, 614430 (3)
GATA4	600576	Ventricular septal defect 1, 614429 (3)
GATA6	601656	Atrial septal defect 9, 614475 (3)
GATA6	601656	Atrioventricular septal defect 5, 614474 (3)
GATA6	601656	Pancreatic agenesis and congenital heart defects, 600001 (3)
GATA6	601656	Persistent truncus arteriosus, 217095 (3)
GATA6	601656	Tetralogy of Fallot, 187500 (3)
GATM	602360	AGAT deficiency, 612718 (3)
GBA	606463	Gaucher disease, perinatal lethal, 608013 (3)
GBA	606463	Gaucher disease, type I, 230800(3)
GBA	606463	Gaucher disease, type II, 230900 (3)
GBA	606463	Gaucher disease, type III, 231000 (3)
GBA	606463	Gaucher disease, type IIIC, 231005 (3)
GBA	606463	{Lewy body dementia, susceptibility to}, 127750 (3)
GBA	606463	{Parkinson disease, late-onset, susceptibility to}, 168600 (3)
GBE1	607839	Glycogen storage disease IV, 232500 (3)
GCDH	608801	Glutaricaciduria, type I, 231670 (3)
GCGR	138033	{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
GCH1	600225	Dystonia, DOPA-responsive, with or without hyperphenylalainemia, 128230 (3)
GCH1	600225	Hyperpehnylalaninemia, BH4-deficient, B, 233910 (3)
GCK	138079	Diabetes mellitus, gestational, 125851 (3)
GCK	138079	Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3)
GCK	138079	Diabetes mellitus, permanent neonatal, 606176 (3)
GCK	138079	Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3)
GCK	138079	MODY, type II, 125851 (3)
GCKR	600842	[Fasting plasma glucose level QTL 5], 613463 (3)
GCLC	606857	Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3)
GCLC	606857	{Myocardial infarction, susceptibility to}, 608446 (3)
GCLM	601176	{Myocardial infarction, susceptibility to}, 608446 (3)
GCM2	603716	Hypoparathyroidism, familial isolated, 146200 (3)
GCNT2	600429	Adult i phenotype with congenital cataract, 110800 (3)
GCNT2	600429	Adult i phenotype without cataract, 110800 (3)
GCNT2	600429	[Blood group, Ii], 110800 (3)
GCSH	238330	Glycine encephalopathy, 605899 (3)
GDAP1	606598	Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3)
GDAP1	606598	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3)
GDAP1	606598	Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3)
GDAP1	606598	Charcot-Marie-Tooth disease, type 4A, 214400 (3)
GDF1	602880	Double-outlet right ventricle, 217095 (3)
GDF1	602880	Tetralogy of Fallot, 187500 (3)
GDF1	602880	Transposition of great arteries, dextro-looped 3, 613854 (3)
GDF3	606522	Klippel-Feil syndrome 3, autosomal dominant, 613702 (3)
GDF3	606522	Microphthalmia with coloboma 6, 613703 (3)
GDF3	606522	Microphthalmia, isolated 7, 613704 (3)
GDF5	601146	Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3)
GDF5	601146	Brachydactyly, type A2, 112600 (3)
GDF5	601146	Brachydactyly, type C, 113100 (3)
GDF5	601146	Chondrodysplasia, Grebe type, 200700 (3)
GDF5	601146	Fibular hypoplasia and complex brachydactyly, 228900 (3)
GDF5	601146	Multiple synostoses syndrome 2, 610017 (3)
GDF5	601146	Symphalangism, proximal, 185800 (3)
GDF5	601146	{Osteoarthritis}, 612400 (3)
GDF6	601147	Klippel-Feil syndrome 1, autosomal dominant, 118100 (3)
GDF6	601147	Microphthalmia with coloboma 6, digenic, 613703 (3)
GDF6	601147	Microphthalmia, isolated 4, 613094 (3)
GDI1	300104	Mental retardation, X-linked 41, 300849 (3)
GDNF	600837	Central hypoventilation syndrome, 209880 (3)
GDNF	600837	{Hirschsprung disease, susceptibility to, 3}, 613711 (3)
GDNF	600837	{Pheochromocytoma, modifier of}, 171300 (3)
GFAP	137780	Alexander disease, 203450 (3)
GFER	600924	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (3)
GFI1	600871	Neutropenia, nonimmune chronic idiopathic, of adults, 607847 (3)
GFI1	600871	Neutropenia, severe congenital 2, autosomal dominant, 613107 (3)
GFM1	606639	Combined oxidative phosphorylation deficiency 1, 609060 (3)
GGCX	137167	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3)
GGCX	137167	Vitamin K-dependent coagulation defect, 277450 (3)
GH1	139250	Growth hormone deficiency, isolated, type IA, 262400 (3)
GH1	139250	Growth hormone deficiency, isolated, type IB, 612781 (3)
GH1	139250	Growth hormone deficiency, isolated, type II, 173100 (3)
GH1	139250	Kowarski syndrome, 262650 (3)
GHR	600946	Increased responsiveness to growth hormone (3)
GHR	600946	Laron dwarfism, 262500 (3)
GHR	600946	Short stature, 604271 (3)
GHR	600946	{Hypercholesterolemia, familial, modification of}, 143890 (3)
GHRHR	139191	Growth hormone deficiency, isolated, type IB, 612781 (3)
GHRL	605353	{Obesity, susceptibility to}, 601665 (3)
GHSR	601898	Short stature, 604271 (3)
GIF	609342	Intrinsic factor deficiency, 261000 (3)
GIGYF2	612003	Parkinson disease 11, 607688 (3)
GIPC3	608792	Deafness, autosomal recessive 15, 601869 (3)
GJA1	121014	Atrioventricular septal defect 3, 600309 (3)
GJA1	121014	Hallermann-Streiff syndrome, 234100 (3)
GJA1	121014	Hypoplastic left heart syndrome 1, 241550 (3)
GJA1	121014	Oculodentodigital dysplasia, 164200 (3)
GJA1	121014	Oculodentodigital dysplasia, autosomal recessive, 257850 (3)
GJA1	121014	Syndactyly, type III, 186100 (3)
GJA3	121015	Cataract, zonular pulverulent-3, 601885 (3)
GJA5	121013	Atrial fibrillation, familial, 11, 614049 (3)
GJA8	600897	Cataract, nuclear progressive (3)
GJA8	600897	Cataract, nuclear pulverulent (3)
GJA8	600897	Cataract, zonular pulverulent-1, 116200 (3)
GJA8	600897	Cataract-microcornea syndrome, 116150 (3)
GJB1	304040	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 (3)
GJB2	121011	Bart-Pumphrey syndrome, 149200 (3)
GJB2	121011	Deafness, autosomal dominant 3A, 601544 (3)
GJB2	121011	Deafness, autosomal recessive 1A, 220290 (3)
GJB2	121011	Hystrix-like ichthyosis with deafness, 602540 (3)
GJB2	121011	Keratitis-ichthyosis-deafness syndrome, 148210 (3)
GJB2	121011	Keratoderma, palmoplantar, with deafness, 148350 (3)
GJB2	121011	Vohwinkel syndrome, 124500 (3)
GJB3	603324	Deafness, autosomal dominant 2B, 612644 (3)
GJB3	603324	Deafness, autosomal dominant, with peripheral neuropathy (3)
GJB3	603324	Deafness, autosomal recessive (3)
GJB3	603324	Deafness, digenic, GJB2/GJB3, 220290 (3)
GJB3	603324	Erythrokeratodermia variabilis et progressiva, 133200 (3)
GJB4	605425	Erythrokeratodermia variabilis with erythema gyratum repens, 133200 (3)
GJB6	604418	Deafness, autosomal dominant 3B, 612643 (3)
GJB6	604418	Deafness, autosomal recessive 1B, 612645 (3)
GJB6	604418	Deafness, digenic GJB2/GJB6, 220290 (3)
GJB6	604418	Ectodermal dysplasia, hidrotic, 129500 (3)
GJC2	608803	Leukodystrophy, hypomyelinating, 2, 608804 (3)
GJC2	608803	Lymphedema, hereditary, IC, 613480 (3)
GJC2	608803	Spastic paraplegia, 44, 613206 (3)
GLA	300644	Fabry disease, 301500 (3)
GLA	300644	Fabry disease, cardiac variant, 301500 (3)
GLB1	611458	GM1-gangliosidosis, type I, 230500 (3)
GLB1	611458	GM1-gangliosidosis, type II, 230600 (3)
GLB1	611458	GM1-gangliosidosis, type III, 230650 (3)
GLB1	611458	Mucopolysaccharidosis type IVB (Morquio), 253010 (3)
GLCCI1	614283	{Glucocorticoid therapy, response to}, 614400 (3)
GLDC	238300	Glycine encephalopathy, 605899 (3)
GLE1	603371	Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3)
GLE1	603371	Lethal congenital contracture syndrome 1, 253310 (3)
GLI2	165230	Holoprosencephaly-9, 610829 (3)
GLI3	165240	Greig cephalopolysyndactyly syndrome, 175700 (3)
GLI3	165240	Pallister-Hall syndrome, 146510 (3)
GLI3	165240	Polydactyly, postaxial, types A1 and B, 174200 (3)
GLI3	165240	Polydactyly, preaxial, type IV, 174700 (3)
GLI3	165240	{Hypothalamic hamartomas, somatic}, 241800 (3)
GLIS2	608539	Nephronophthisis 7, 611498 (3)
GLIS3	610192	Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
GLMN	601749	Glomuvenous malformations, 138000 (3)
GLRA1	138491	Hyperekplexia and spastic paraparesis (3)
GLRA1	138491	Startle disease, autosomal recessive (3)
GLRA1	138491	Startle disease/hyperekplexia, autosomal dominant, 149400 (3)
GLRB	138492	Hyperekplexia, autosomal recessive, 149400 (3)
GLRX5	609588	Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 (3)
GLUD1	138130	Hyperinsulinism-hyperammonemia syndrome, 606762 (3)
GLUL	138290	Glutamine deficiency, congenital, 610015 (3)
GLYCTK	610516	D-glyceric aciduria, 220120 (3)
GM2A	613109	GM2-gangliosidosis, AB variant, 272750 (3)
GMPS	600358	Leukemia, acute myelogenous, 601626 (3)
GNAI2	139360	Pituitary ACTH-secreting adenoma (3)
GNAI2	139360	Ventricular tachycardia, idiopathic, 192605 (3)
GNAS	139320	Acromegaly, 102200 (3)
GNAS	139320	McCune-Albright syndrome, 174800 (3)
GNAS	139320	Osseous heteroplasia, progressive, 166350 (3)
GNAS	139320	Prolonged bleeding time, brachydactyly and mental retardation (3)
GNAS	139320	Pseudohypoparathyroidism Ia, 103580 (3)
GNAS	139320	Pseudohypoparathyroidism Ib, 603233 (3)
GNAS	139320	Pseudohypoparathyroidism Ic, 612462 (3)
GNAS	139320	Pseudopseudohypoparathyroidism, 612463 (3)
GNAS-AS1	610540	Pseudohypoparathyroidism, type IB, 603233 (3)
GNAT1	139330	Night blindness, congenital stationary, autosomal dominant 3, 610444 (3)
GNAT2	139340	Achromatopsia-4, 613856 (3)
GNB3	139130	{Hypertension, essential, susceptibility to}, 145500 (3)
GNE	603824	Inclusion body myopathy, autosomal recessive, 600737 (3)
GNE	603824	Nonaka myopathy, 605820 (3)
GNE	603824	Sialuria, 269921 (3)
GNMT	606628	Glycine N-methyltransferase deficiency, 606664 (3)
GNPAT	602744	Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3)
GNPTAB	607840	Mucolipidosis II alpha/beta, 252500 (3)
GNPTAB	607840	Mucolipidosis III alpha/beta, 252600 (3)
GNPTG	607838	Mucolipidosis III gamma, 252605 (3)
GNRHR	138850	Fertile eunuch syndrome, 228300 (3)
GNRHR	138850	Hypogonadotropic hypogonadism (3)
GNS	607664	Mucopolysaccharidosis type IIID, 252940 (3)
GOLGA5	606918	Thyroid carcinoma, papillary, 188550 (3)
GORAB	607983	Geroderma osteodysplasticum, 231070 (3)
GOSR2	604027	Epilepsy, progressive myoclonic 6, 614018 (3)
GOT1	138180	Aspartate aminotransferase, serum level of, QTL1, 614419 (3)
GP1BA	606672	Bernard-Soulier syndrome, type A1 (recessive), 231200 (3)
GP1BA	606672	Bernard-Soulier syndrome, type A2 (dominant), 153670 (3)
GP1BA	606672	von Willebrand disease, platelet-type, 177820 (3)
GP1BA	606672	{Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660 (3)
GP1BB	138720	Bernard-Soulier syndrome, type B, 231200 (3)
GP1BB	138720	Giant platelet disorder, isolated, 231200 (3)
GP6	605546	Bleeding disorder, platelet-type, 11, 614201 (3)
GP9	173515	Bernard-Soulier syndrome, type C, 231200 (3)
GPC3	300037	Simpson-Golabi-Behmel syndrome, type 1, 312870 (3)
GPC3	300037	Wilms tumor, somatic, 194070 (3)
GPC6	604404	Omodysplasia 1, 258315 (3)
GPD1	138420	Hypertriglyceridemia, transient infantile, 614480 (3)
GPD1L	611778	Brugada syndrome 2, 611777 (3)
GPD2	138430	{Diabetes, type 2, susceptibility to}, 125853 (3)
GPHN	603930	Hyperekplexia, 149400 (3)
GPHN	603930	Molybdenum cofactor deficiency, type C, 252150 (3)
GPI	172400	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 (3)
GPR143	300808	Nystagmus 6, congenital, X-linked, 300814 (3)
GPR143	300808	Ocular albinism, type I, Nettleship-Falls type, 300500 (3)
GPR56	604110	Polymicrogyria, bilateral frontoparietal, 606854 (3)
GPR98	602851	Febrile seizures, familial, 4, 604352 (3)
GPR98	602851	Usher syndrome, type 2C, 605472 (3)
GPR98	602851	Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 (3)
GPSM2	609245	Deafness, autosomal recessive 82, 613557 (3)
GRHL2	608576	Deafness, autosomal dominant 28, 608641 (3)
GRHPR	604296	Hyperoxaluria, primary, type II, 260000 (3)
GRIA3	305915	Mental retardation, X-linked 94, 300699 (3)
GRIK2	138244	Mental retardation, autosomal recessive, 6, 611092 (3)
GRIN1	138249	Mental retardation, autosomal dominant 8, 614254 (3)
GRIN2A	138253	Epilepsy with neurodevelopmental defects, 613971 (3)
GRIN2B	138252	Mental retardation, autosomal dominant 6, 613970 (3)
GRK1	180381	Oguchi disease-2, 613411 (3)
GRM6	604096	Night blindness, congenital stationary, type 1B, 257270 (3)
GRN	138945	Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 (3)
GRXCR1	613283	Deafness, autosomal recessive 25, 613285 (3)
GSN	137350	Amyloidosis, Finnish type, 105120 (3)
GSS	601002	Glutathione synthetase deficiency, 266130 (3)
GSS	601002	Hemolytic anemia due to glutathione synthetase deficiency, 231900 (3)
GTF2H5	608780	Trichothiodystrophy, complementation group A, 601675 (3)
GUCA1A	600364	Cone dystrophy-3, 602093 (3)
GUCA1A	600364	Cone-rod dystrophy 14, 602093 (3)
GUCA1B	602275	Retinitis pigmentosa 48, 613827 (3)
GUCY2D	600179	Cone-rod dystrophy 6, 601777(3)
GUCY2D	600179	Leber congenital amaurosis 1, 204000 (3)
GULOP	240400	Scurvy (3)
GUSB	611499	Mucopolysaccharidosis VII, 253220 (3)
GYG1	603942	Glycogen storage disease XV, 613507 (3)
GYPA	111300	[Blood group, MN] (3)
GYPA	111300	{Malaria, resistance to}, 611162 (3)
GYPB	111740	[Blood group, Ss] (3)
GYPC	110750	[Blood group, Gerbich] (3)
GYPC	110750	{Malaria, resistance to}, 611162 (3)
GYS1	138570	Glycogen storage disease 0, muscle, 611556 (3)
GYS2	138571	Glycogen storage disease, type 0, 240600 (3)
H19	103280	Beckwith-Wiedemann syndrome, 130650 (3)
H19	103280	Silver-Russell syndrome, 180860 (3)
H19	103280	Wilms tumor 2, 194071 (3)
H6PD	138090	Cortisone reductase deficiency, 604931 (3)
HABP2	603924	{Carotid stenosis, susceptibility to} (3)
HABP2	603924	{Venous thromboembolism, susceptibility to}, 188050 (3)
HADH	601609	3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3)
HADH	601609	Hyperinsulinemic hypoglycemia, familial, 4, 609975 (3)
HADHA	600890	Fatty liver, acute, of pregnancy, 609016 (3)
HADHA	600890	HELLP syndrome, maternal, of pregnancy, 609016 (3)
HADHA	600890	LCHAD deficiency, 609016 (3)
HADHA	600890	Trifunctional protein deficiency, 609015 (3)
HADHB	143450	Trifunctional protein deficiency, 609015 (3)
HAL	609457	[Histidinemia], 235800 (3)
HAMP	606464	Hemochromatosis, type 2B, 613313 (3)
HARS	142810	Usher syndrome type 3B, 614504 (3)
HAVCR1	606518	{Atopy, resistance to}, 147050 (3)
HAX1	605998	Neutropenia, severe congenital 3, autosomal recessive, 610738 (3)
HBA1	141800	Erythremias, alpha- (3)
HBA1	141800	Heinz body anemias, alpha-, 140700 (3)
HBA1	141800	Hemoglobin H disease, nondeletional, 613978 (3)
HBA1	141800	Methemoglobinemias, alpha- (3)
HBA1	141800	Thalassemias, alpha-, 604131 (3)
HBA2	141850	Erythrocytosis (3)
HBA2	141850	Heinz body anemia, 140700 (3)
HBA2	141850	Hemoglobin H disease, nondeletional, 613978 (3)
HBA2	141850	Hypochromic microcytic anemia (3)
HBA2	141850	Thalassemia, alpha-, 604131 (3)
HBB	141900	Delta-beta thalassemia, 141749 (3)
HBB	141900	Erythremias, beta- (3)
HBB	141900	Heinz body anemias, beta-, 140700 (3)
HBB	141900	Hereditary persistence of fetal hemoglobin, 141749 (3)
HBB	141900	Methemoglobinemias, beta- (3)
HBB	141900	Sickle cell anemia, 603903 (3)
HBB	141900	Thalassemia-beta, dominant inclusion-body, 603902 (3)
HBB	141900	Thalassemias, beta-, 613985 (3)
HBD	142000	Thalassemia due to Hb Lepore (3)
HBD	142000	Thalassemia, delta- (3)
HBG1	142200	Fetal hemoglobin quantitative trait locus 1, 141749 (3)
HBG2	142250	Cyanosis, transient neonatal, 613977 (3)
HBG2	142250	Fetal hemoglobin quantitative trait locus 1, 141749 (3)
HCCS	300056	Microphthalmia, syndromic 7, 309801 (3)
HCN4	605206	Brugada syndrome 8, 613123 (3)
HCN4	605206	Sick sinus syndrome 2, 163800 (3)
HCRT	602358	Narcolepsy 1, 161400 (3)
HDAC4	605314	Brachydacytly-mental retardation syndrome, 600430 (3)
HEPACAM	611642	Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3)
HEPACAM	611642	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 (3)
HERC2	605837	[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)
HERC2	605837	[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
HES7	608059	Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)
HESX1	601802	Growth hormone deficiency with pituitary anomalies, 182230 (3)
HESX1	601802	Pituitary hormone deficiency, combined, 5, 182230 (3)
HESX1	601802	Septooptic dysplasia, 182230 (3)
HEXA	606869	GM2-gangliosidosis, several forms, 272800 (3)
HEXA	606869	Tay-Sachs disease, 272800 (3)
HEXA	606869	[Hex A pseudodeficiency], 272800 (3)
HEXB	606873	Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)
HFE	613609	Hemochromatosis, 235200 (3)
HFE	613609	[Transferrin serum level QTL2], 614193 (3)
HFE	613609	{Alzheimer disease, susceptibility to}, 104300 (3)
HFE	613609	{Microvascular complications of diabetes 7}, 612635 (3)
HFE	613609	{Porphyria cutanea tarda, susceptibility to}, 176100 (3)
HFE	613609	{Porphyria variegata, susceptibility to}, 176200 (3)
HFE2	608374	Hemochromatosis, type 2A, 602390 (3)
HGD	607474	Alkaptonuria, 203500 (3)
HGF	142409	Deafness, autosomal recessive 39, 608265 (3)
HGSNAT	610453	Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)
HIBCH	610690	3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
HK1	142600	Hemolytic anemia due to hexokinase deficiency, 235700 (3)
HLA-A	142800	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B	142830	{Abacavir hypersensitivity, susceptibility to} (3)
HLA-B	142830	{Drug-induced liver injury due to flucloxacillin} (3)
HLA-B	142830	{Spondyloarthropathy, susceptibility to, 1}, 106300 (3)
HLA-B	142830	{Stevens-Johnson syndrome, susceptibility to}, 608579 (3)
HLA-B	142830	{Synovitis, chronic, susceptibility to} (3)
HLA-B	142830	{Toxic epidermal necrolysis, susceptibility to}, 608579 (3)
HLA-C	142840	{HIV-1 viremia, susceptibility to}, 609423 (3)
HLA-C	142840	{Psoriasis susceptibility 1}, 177900 (3)
HLA-DPB1	142858	{Beryllium disease, chronic, susceptibility to} (3)
HLA-DQA1	146880	{Celiac disease, susceptibility to}, 212750 (3)
HLA-DQB1	604305	{Celiac disease, susceptibility to}, 212750 (3)
HLA-DQB1	604305	{Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
HLA-DQB1	604305	{Multiple sclerosis, susceptibility to}, 126200 (3)
HLA-DRB1	142857	{Multiple sclerosis, susceptibility to}, 126200 (3)
HLA-DRB1	142857	{Rheumatoid arthritis, susceptibility to}, 180300 (3)
HLA-DRB1	142857	{Sarcoidosis, susceptibility l, 1}, 181000 (3)
HLCS	609018	Holocarboxylase synthetase deficiency, 253270 (3)
HMBS	609806	Porphyria, acute intermittent, 176000 (3)
HMBS	609806	Porphyria, acute intermittent, nonerythroid variant, 176000 (3)
HMCN1	608548	{Macular degeneration, age-related, 1}, 603075 (3)
HMGA1	600701	{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
HMGCL	613898	HMG-CoA lyase deficiency, 246450 (3)
HMGCR	142910	[Low density lipoprotein cholesterol level QTL 3] (3)
HMGCR	142910	[Statins, attenuated cholesterol lowering by] (3)
HMGCS2	600234	HMG-CoA synthase-2 deficiency, 605911 (3)
HMMR	600936	{Breast cancer, susceptibility to}, 114480 (3)
HMOX1	141250	Heme oxygenase-1 deficiency, 614034 (3)
HMOX1	141250	{Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (3)
HMX1	142992	Oculoauricular syndrome, 612109 (3)
HNF1A	142410	Diabetes mellitus, insulin-dependent, 20, 612520 (3)
HNF1A	142410	Hepatic adenoma, somatic, 142330 (3)
HNF1A	142410	MODY, type III, 600496 (3)
HNF1A	142410	Renal cell carcinoma, 144700 (3)
HNF1A	142410	{Diabetes mellitus, insulin-dependent}, 222100 (3)
HNF1A	142410	{Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3)
HNF1B	189907	Diabetes mellitus, noninsulin-dependent, 125853 (3)
HNF1B	189907	Renal cysts and diabetes syndrome, 137920 (3)
HNF1B	189907	{Renal cell carcinoma}, 144700 (3)
HNF4A	600281	MODY, type I, 125850 (3)
HNF4A	600281	{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
HNMT	605238	{Asthma, susceptibility to}, 600807 (3)
HOGA1	613597	Hyperoxaluria, primary, type III, 613616 (3)
HOXA1	142955	Athabaskan brainstem dysgenesis syndrome, 601536 (3)
HOXA1	142955	Bosley-Salih-Alorainy syndrome, 601536 (3)
HOXA11	142958	Radioulnar synostosis with amegakaryocytic thrombocytopenia, 605432 (3)
HOXA13	142959	Guttmacher syndrome, 176305 (3)
HOXA13	142959	Hand-foot-uterus syndrome, 140000 (3)
HOXA2	604685	Microtia, hearing impairment, and cleft palate, 612290 (3)
HOXD10	142984	Charcot-Marie-Tooth disease, foot deformity of, 192950 (3)
HOXD10	142984	Vertical talus, congenital, 192950 (3)
HOXD13	142989	Brachydactyly, type D, 113200 (3)
HOXD13	142989	Brachydactyly, type E, 113300 (3)
HOXD13	142989	Brachydactyly-syndactyly syndrome, 610713 (3)
HOXD13	142989	Syndactyly, type V, 186300 (3)
HOXD13	142989	Synpolydactyly with foot anomalies, 186000 (3)
HOXD13	142989	Synpolydactyly, type II, 186000 (3)
HOXD13	142989	VACTERL association, 192350 (3)
HOXD4	142981	{Leukemia, acute lymphoblastic, susceptibility to} (3)
HPD	609695	Hawkinsinuria, 140350 (3)
HPD	609695	Tyrosinemia, type III, 276710 (3)
HPGD	601688	Cranioosteoarthropathy, 259100 (3)
HPGD	601688	Digital clubbing, isolated congenital, 119900 (3)
HPGD	601688	Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 (3)
HPRT1	308000	HPRT-related gout, 300323 (3)
HPRT1	308000	Lesch-Nyhan syndrome, 300322 (3)
HPS1	604982	Hermansky-Pudlak syndrome 1, 203300 (3)
HPS3	606118	Hermansky-Pudlak syndrome 3, 614072 (3)
HPS4	606682	Hermansky-Pudlak syndrome 4, 614073 (3)
HPS5	607521	Hermansky-Pudlak syndrome 5, 614074 (3)
HPS6	607522	Hermansky-Pudlak syndrome 6, 614075 (3)
HPSE2	613469	Urofacial syndrome, 236730 (3)
HRAS	190020	Costello syndrome, 218040 (3)
HRAS	190020	{Bladder cancer, somatic}, 109800 (3)
HRAS	190020	{Thyroid carcinoma, follicular, somatic}, 188470 (3)
HRG	142640	Thrombophilia due to HRG deficiency, 613116 (3)
HSD11B1	600713	Cortisone reductase deficiency, 604931 (3)
HSD11B2	614232	Apparent mineralocorticoid excess, 218030 (3)
HSD17B10	300256	17-beta-hydroxysteroid dehydrogenase X deficiency, 300438 (3)
HSD17B10	300256	Mental retardation, X-linked 17/31, microduplication, 300705 (3)
HSD17B10	300256	Mental retardation, X-linked syndromic 10, 300220 (3)
HSD17B3	605573	Pseudohermaphroditism, male, with gynecomastia, 264300 (3)
HSD17B4	601860	D-bifunctional protein deficiency, 261515 (3)
HSD17B4	601860	Perrault syndrome, 233400 (3)
HSD3B2	613890	3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3)
HSD3B7	607764	Bile acid synthesis defect, congenital, 1, 607765 (3)
HSF4	602438	Cataract, Marner type, 116800 (3)
HSF4	602438	Cataract, lamellar, 116800 (3)
HSPB1	602195	Charcot-Marie-Tooth disease, axonal, type 2F, 606595 (3)
HSPB1	602195	Neuropathy, distal hereditary motor, type IIB, 608634 (3)
HSPB3	604624	Neuronopathy, distal hereditary motor, type IIC, 613376 (3)
HSPB8	608014	Charcot-Marie-Tooth disease, axonal, type 2L, 608673 (3)
HSPB8	608014	Neuropathy, distal hereditary motor, type IIA, 158590 (3)
HSPD1	118190	Leukodystrophy, hypomyelinating, 4, 612233 (3)
HSPD1	118190	Spastic paraplegia-13, 605280 (3)
HSPG2	142461	Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3)
HSPG2	142461	Schwartz-Jampel syndrome, type 1, 255800 (3)
HTR2A	182135	{Alcohol dependence, susceptibility to}, 103780 (3)
HTR2A	182135	{Anorexia nervosa, susceptibility to}, 606788 (3)
HTR2A	182135	{Major depressive disorder, response to citalopram therapy in}, 608516 (3)
HTR2A	182135	{Obsessive-compulsive disorder, susceptibility to}, 164230 (3)
HTR2A	182135	{Schizophrenia, susceptibility to}, 181500 (3)
HTR2A	182135	{Seasonal affective disorder, susceptibility to}, 608516 (3)
HTRA1	602194	{Macular degeneration, age-related, 7}, 610149 (3)
HTRA1	602194	{Macular degeneration, age-related, neovascular type}, 610149 (3)
HTRA2	606441	Parkinson disease 13, 610297 (3)
HTT	613004	Huntington disease, 143100 (3)
HUWE1	300697	Mental retardation, X-linked syndromic, Turner type, 300706 (3)
HYAL1	607071	Mucopolysaccharidosis type IX, 601492 (3)
HYLS1	610693	Hydrolethalus syndrome, 236680 (3)
ICAM1	147840	{Malaria, cerebral, susceptibility to}, 611162 (3)
ICAM4	614088	[Blood group, Landsteiner-Wiener], 111250 (3)
ICK	612325	Endocrine-cerebroosteodysplasia, 612651 (3)
ICOS	604558	Immunodeficiency, common variable, 1, 607594 (3)
IDH2	147650	D-2-hydrosyglutaric aciduria 2, 613657 (3)
IDH3B	604526	Retinitis pigmentosa 46 (3)
IDS	300823	Mucopolysaccharidosis II, 309900 (3)
IDUA	252800	Mucopolysaccharidosis Ih, 607014 (3)
IDUA	252800	Mucopolysaccharidosis Ih/s, 607015 (3)
IDUA	252800	Mucopolysaccharidosis Is, 607016 (3)
IER3IP1	609382	Microcephaly, epilepsy, and diabetes syndrome, 614231 (3)
IFNAR2	602376	{Hepatitis B virus, susceptibility to}, 610424 (3)
IFNG	147570	{AIDS, rapid progression to}, 609423 (3)
IFNG	147570	{Aplastic anemia}, 609135 (3)
IFNG	147570	{Hepatitis C virus, response to therapy of}, 609532 (3)
IFNG	147570	{TSC2 angiomyolipomas, renal, modifier of}, 613254 (3)
IFNG	147570	{Tuberculosis, protection against}, 607948 (3)
IFNGR1	107470	BCG infection, generalized familial, 209950 (3)
IFNGR1	107470	Mycobacterial infection, atypical, familial disseminated, 209950 (3)
IFNGR1	107470	{H. pylori infection, susceptibility to}, 600263 (3)
IFNGR1	107470	{Hepatitis B virus infection, susceptibility to}, 610424 (3)
IFNGR1	107470	{Mycobacterium tuberculosis infection, protection against}, 600263 (3)
IFNGR1	107470	{Tuberculosis, susceptibility to}, 607948 (3)
IFNGR2	147569	{Mycobacterial infection, atypical, familial disseminated}, 209950 (3)
IFT122	606045	Cranioectodermal dysplasia, 218330 (3)
IFT43	614068	Cranioectodermal dysplasia 3, 614099 (3)
IFT80	611177	Asphyxiating thoracic dystrophy 2, 611263 (3)
IGBP1	300139	Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, 300472 (3)
IGF1	147440	Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 (3)
IGF1R	147370	Insulin-like growth factor I, resistance to, 270450 (3)
IGF2BP2	608289	{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
IGF2R	147280	Hepatocellular carcinoma (3)
IGFALS	601489	Acid-labile subunit, deficiency of (3)
IGFBP7	602867	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3)
IGHG2	147110	IgG2 deficiency, selective (3)
IGHM	147020	Agammaglobulinemia 1, 601495 (3)
IGHMBP2	600502	Neuronopathy, distal hereditary motor, type VI, 604320 (3)
IGKC	147200	[Kappa light chain deficiency], 614102 (3)
IGLL1	146770	Agammaglobulinemia 2, 613500 (3)
IHH	600726	Acrocapitofemoral dysplasia, 607778 (3)
IHH	600726	Brachydactyly, type A1, 112500 (3)
IKBKAP	603722	Dysautonomia, familial, 223900 (3)
IKBKG	300248	Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291 (3)
IKBKG	300248	Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3)
IKBKG	300248	Immunodeficiency, isolated, 300584 (3)
IKBKG	300248	Incontinentia pigmenti, type II, 308300 (3)
IKBKG	300248	Invasive pneumococcal disease, recurrent isolated, 2, 300640 (3)
IKBKG	300248	{Atypical mycobacteriosis, familial}, 300636 (3)
IKZF1	603023	Leukemia, acute lymphoblastic (3)
IL10	124092	{Graft-versus-host disease, protection against}, 614395 (3)
IL10	124092	{HIV-1, susceptibility to}, 609423 (3)
IL10	124092	{Rheumatoid arthritis, progression of}, 180300 (3)
IL10RA	146933	Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3)
IL10RB	123889	Inflammatory bowel disease 25, early onset, autosomal recessive, 612567 (3)
IL10RB	123889	{Hepatitis B virus, susceptibility to}, 610424 (3)
IL11RA	600939	Craniosynostosis and dental anomalies, 614188 (3)
IL12B	161561	{Asthma, susceptibility to}, 600807 (3)
IL12RB1	601604	{Mycobacterial and salmonella infections, susceptibility to}, 209950 (3)
IL13	147683	{Allergic rhinitis, susceptibility to}, 607154 (3)
IL13	147683	{Asthma, susceptibility to}, 600807 (3)
IL17F	606496	Candidiasis, familial, 6, autosomal dominant, 613956 (3)
IL17RA	605461	Candidiasis, familial, 5, autosomal recessive, 613953 (3)
IL1B	147720	{Gastric cancer risk after H. pylori infection}, 137215 (3)
IL1RAPL1	300206	Mental retardation, X-linked 21/34, 300143 (3)
IL1RN	147679	Interleukin 1 receptor antagonist deficiency, 612852 (3)
IL1RN	147679	{Gastric cancer risk after H. pylori infection}, 137215 (3)
IL1RN	147679	{Microvascular complications of diabetes 4}, 612628 (3)
IL21R	605383	[IgE, elevated level of], 147050 (3)
IL23R	607562	{Inflammatory bowel disease 17, protection against}, 612261 (3)
IL23R	607562	{Psoriasis, protection against}, 605606 (3)
IL28B	607402	{Hepatitis C virus infection, response to therapy of}, 609532 (3)
IL2RA	147730	Interleukin-2 receptor, alpha chain, deficiency of, 606367 (3)
IL2RA	147730	{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942 (3)
IL2RG	308380	Combined immunodeficiency, X-linked, moderate, 312863 (3)
IL2RG	308380	Severe combined immunodeficiency, X-linked, 300400 (3)
IL31RA	609510	Amyloidosis, primary localized cutaneous, 2, 613955 (3)
IL36RN	605507	Psoriasis, generalized pustular, 614204 (3)
IL4R	147781	{AIDS, slow progression to}, 609423 (3)
IL4R	147781	{Atopy, susceptibility to}, 147050 (3)
IL6	147620	{Crohn disease-associated growth failure}, 266600 (3)
IL6	147620	{Diabetes, susceptibility to}, 222100, 125853 (3)
IL6	147620	{Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}, 108010 (3)
IL6	147620	{Kaposi sarcoma, susceptibility to}, 148000 (3)
IL6	147620	{Rheumatoid arthritis, systemic juvenile}, 604302 (3)
IL7R	146661	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
ILDR1	609739	Deafness, autosomal recessive 42, 609646 (3)
IMPAD1	614010	Chondrodysplasia with joint dislocations, GRAPP type, 614078 (3)
IMPDH1	146690	Leber congenital amaurosis 11, 613837 (3)
IMPDH1	146690	Retinitis pigmentosa 10, 180105 (3)
IMPDH2	146691	[IMPDH2 enzyme activity, variation in] (3)
IMPG2	607056	Maculopathy, IMPG2-related, 613581 (3)
IMPG2	607056	Retinitis pigmentosa 56, 613581 (3)
INF2	610982	Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
INF2	610982	Glomerulosclerosis, focal segmental, 5, 613237 (3)
ING1	601566	Squamous cell carcinoma, head and neck, somatic, 275355 (3)
INPP5E	613037	Joubert syndrome 1, 213300 (3)
INPP5E	613037	Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
INS	176730	Diabetes mellitus, insulin-dependent, 2, 125852 (3)
INS	176730	Diabetes mellitus, permanent neonatal, 606176 (3)
INS	176730	Diabetes mellitus, type 1, 125852 (3)
INS	176730	Hyperproinsulinemia, familial, with or without diabetes (3)
INS	176730	Maturity-onset diabetes of the young, type 10, 613370 (3)
INSL3	146738	Cryptorchidism, idiopathic, 219050 (3)
INSR	147670	Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3)
INSR	147670	Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3)
INSR	147670	Leprechaunism, 246200 (3)
INSR	147670	Rabson-Mendenhall syndrome, 262190 (3)
INVS	243305	Nephronophthisis 2, infantile, 602088 (3)
IQCB1	609237	Senior-Loken syndrome 5, 609254 (3)
IQSEC2	300522	Mental retardation, X-linked 1, 309530 (3)
IRAK3	604459	{Asthma susceptibility 5}, 611064 (3)
IRAK4	606883	IRAK4 deficiency, 607676 (3)
IRAK4	606883	Invasive pneumococcal disease, recurrent isolated, 1, 610799 (3)
IRF1	147575	Gastric cancer, somatic, 137215 (3)
IRF1	147575	Myelodysplastic syndrome, preleukemic (3)
IRF1	147575	Myelogenous leukemia, acute (3)
IRF1	147575	Nonsmall cell lung cancer, somatic, 211980 (3)
IRF4	601900	Multiple myeloma, 254500 (3)
IRF5	607218	{Inflammatory bowel disease 14}, 612245 (3)
IRF5	607218	{Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3)
IRF6	607199	Orofacial cleft 6, 608864 (3)
IRF6	607199	Popliteal pterygium syndrome, 119500 (3)
IRF6	607199	van der Woude syndrome, 119300 (3)
IRGM	608212	Inflammatory bowel disease 19, 612278 (3)
IRGM	608212	{Mycobacterium tuberculosis, protection against}, 607948 (3)
IRS1	147545	{Coronary artery disease, susceptibility to} (3)
IRS1	147545	{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
IRS2	600797	{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
ISCU	611911	Myopathy with lactic acidosis, hereditary, 255125 (3)
ITCH	606409	Autoimmune disease, syndromic multisystem, 613385 (3)
ITGA2B	607759	Glanzmann thrombasthenia, 273800 (3)
ITGA2B	607759	Thrombocytopenia, neonatal alloimmune, BAK antigen related (3)
ITGA6	147556	Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)
ITGA7	600536	Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3)
ITGAM	120980	{Systemic lupus erythematous, association with susceptibility to, 6}, 609939 (3)
ITGB2	600065	Leukocyte adhesion deficiency, 116920 (3)
ITGB3	173470	Glanzmann thrombasthenia, 273800 (3)
ITGB3	173470	Purpura, posttransfusion (3)
ITGB3	173470	Thrombocytopenia, neonatal alloimmune (3)
ITGB3	173470	{Myocardial infarction, susceptibility to}, 608446 (3)
ITGB4	147557	Epidermolysis bullosa of hands and feet, 131800 (3)
ITGB4	147557	Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
ITGB4	147557	Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
ITIH4	600564	{Hypercholesterolemia, susceptibility to}, 143890 (3)
ITK	186973	Lymphoproliferative syndrome, EBV-associated, autosomal, 1, 613011 (3)
ITM2B	603904	Dementia, familial British, 176500 (3)
ITM2B	603904	Dementia, familial Danish, 117300 (3)
ITPA	147520	[Inosine triphosphatase deficiency], 613850 (3)
ITPKC	606476	{Kawasaki disease, susceptibility to}, 611775 (3)
ITPR1	147265	Spinocerebellar ataxia 15, 606658 (3)
IVD	607036	Isovaleric acidemia, 243500 (3)
IYD	612025	Thyroid dyshormonogenesis 4, 274800 (3)
JAG1	601920	Alagille syndrome, 118450 (3)
JAG1	601920	Deafness, congenital heart defects, and posterior embryotoxon (3)
JAG1	601920	Tetralogy of Fallot, 187500 (3)
JAK2	147796	Leukemia, acute myelogenous, 601626 (3)
JAK2	147796	Myelofibrosis, idiopathic, 254450 (3)
JAK2	147796	Myeloproliferative disorder with erythrocytosis (3)
JAK2	147796	Polycythemia vera, 263300 (3)
JAK2	147796	Thrombocythemia 3, 614521 (3)
JAK2	147796	{Budd-Chiari syndrome}, 600880 (3)
JAK3	600173	SCID, autosomal recessive, T-negative/B-positive type (3)
JAM3	606871	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3)
JPH2	605267	Cardiomyopathy, familial hypertrophic 17, 613873 (3)
JPH3	605268	Huntington disease-like 2, 606438 (3)
JUP	173325	Arrhythmogenic right ventricular dysplasia 12, 611528 (3)
JUP	173325	Naxos disease, 601214 (3)
KAL1	300836	Kallmann syndrome, 308700 (3)
KALRN	604605	{Coronary heart disease, susceptibility to, 5}, 608901 (3)
KANK1	607704	Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
KARS	601421	Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3)
KAT6B	605880	SBBYSS syndrome, 603736 (3)
KBTBD13	613727	Nemaline myopathy 6, 609273 (3)
KCNA1	176260	Episodic ataxia/myokymia syndrome, 160120 (3)
KCNA5	176267	Atrial fibrillation, familial, 7, 612240 (3)
KCNC3	176264	Spinocerebellar ataxia 13, 605259 (3)
KCNE1	176261	Jervell and Lange-Nielsen syndrome 2, 612347 (3)
KCNE1	176261	Long QT syndrome-5, 613695 (3)
KCNE2	603796	Atrial fibrillation, familial, 4, 611493 (3)
KCNE2	603796	Long QT syndrome-6, 613693 (3)
KCNE3	604433	Brugada syndrome 6, 613119 (3)
KCNH2	152427	Long QT syndrome-2, 613688 (3)
KCNH2	152427	Short QT syndrome-1, 609620 (3)
KCNH2	152427	{Long QT syndrome-2, acquired, susceptibility to}, 613688 (3)
KCNJ1	600359	Bartter syndrome, type 2, 241200 (3)
KCNJ10	602208	Enlarged vestibular aqueduct, digenic, 600791 (3)
KCNJ10	602208	SESAME syndrome, 612780 (3)
KCNJ11	600937	Diabetes mellitus, permanent neonatal, with neurologic features, 606176 (3)
KCNJ11	600937	Diabetes mellitus, transient neonatal, 3, 610582 (3)
KCNJ11	600937	Diabetes, permanent neonatal, 606176 (3)
KCNJ11	600937	Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)
KCNJ11	600937	{Diabetes mellitus, type 2, susceptibility to}, 125853 (3)
KCNJ13	603208	Leber congenital amaurosis 16, 614186 (3)
KCNJ13	603208	Snowflake vitreoretinal degeneration, 193230 (3)
KCNJ18	613236	{Thyrotoxic periodic paralysis, susceptibility to, 2}, 613239 (3)
KCNJ2	600681	Atrial fibrillation, familial, 9, 613980 (3)
KCNJ2	600681	Long QT syndrome-7, 170390 (3)
KCNJ2	600681	Short QT syndrome-3, 609622 (3)
KCNJ5	600734	Hyperaldosteronism, familial, type III, 613677 (3)
KCNJ5	600734	Long QT syndrome 13, 613485 (3)
KCNK18	613655	{Migraine, with or without aura, susceptibility to, 13}, 613656 (3)
KCNK9	605874	Birk-Barel mental retardation dysmorphism syndrome, 612292 (3)
KCNMA1	600150	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
KCNMB1	603951	{Hypertension, diastolic, resistance to}, 608622 (3)
KCNQ1	607542	Atrial fibrillation, familial, 3, 607554 (3)
KCNQ1	607542	Jervell and Lange-Nielsen syndrome, 220400 (3)
KCNQ1	607542	Long QT syndrome-1, 192500 (3)
KCNQ1	607542	Short QT syndrome-2, 609621 (3)
KCNQ1	607542	{Long QT syndrome 1, acquired, susceptibility to}, 192500 (3)
KCNQ1OT1	604115	Beckwith-Wiedemann syndrome, 130650 (3)
KCNQ2	602235	Epileptic encephalopathy, early infantile, 7, 613720 (3)
KCNQ2	602235	Myokymia, 121200 (3)
KCNQ2	602235	Seizures, benign neonatal, 1, 121200 (3)
KCNQ3	602232	Seizures, benign neonatal, type 2, 121201 (3)
KCNQ4	603537	Deafness, autosomal dominant 2A, 600101 (3)
KCNV2	607604	Retinal cone dystrophy 3B, 610356 (3)
KCTD7	611725	Epilepsy, progressive myoclonic 3, 611726 (3)
KDM5C	314690	Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3)
KDM6A	300128	Kabuki syndrome 2, 300867 (3)
KDR	191306	Hemangioma, capillary infantile, somatic, 602089 (3)
KDR	191306	{Hemangioma, capillary infantile, susceptibility to}, 602089 (3)
KEL	613883	[Blood group, Kell], 110900 (3)
KERA	603288	Cornea plana congenita, recessive, 217300 (3)
KHK	614058	[Fructosuria], 229800 (3)
KIAA0196	610657	Spastic paraplegia-8, 603563 (3)
KIAA0319	609269	{Dyslexia, susceptibility to, 2}, 600202 (3)
KIAA1199	608366	?Deafness, nonsyndromic (3)
KIAA1279	609367	Goldberg-Shprintzen megacolon syndrome, 609460 (3)
KIF1A	601255	Mental retardation, autosomal dominant 9, 614255 (3)
KIF1A	601255	Neuropathy, hereditary sensory, type IIC, 614213 (3)
KIF1A	601255	Spastic paraplegia 30, autosomal recessive, 610357 (3)
KIF1B	605995	Charcot-Marie-Tooth disease, type 2A1, 118210 (3)
KIF1B	605995	Pheochromocytoma, 171300 (3)
KIF1B	605995	{Neuroblastoma, susceptibility to, 1}, 256700 (3)
KIF21A	608283	Fibrosis of extraocular muscles, congenital, 1, 135700 (3)
KIF21A	608283	Fibrosis of extraocular muscles, congenital, 3B, 135700 (3)
KIF22	603213	Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3)
KIF5A	602821	Spastic paraplegia 10, 604187 (3)
KIF7	611254	Acrocallosal syndrome, 200990 (3)
KIF7	611254	Hydrolethalus syndrome 2, 614120 (3)
KIF7	611254	Joubert syndrome 12, 200990 (3)
KIR3DL1	604946	{AIDS, delayed/rapid progression to}, 609423 (3)
KIRREL3	607761	Mental retardation, autosomal dominant 4, 612581 (3)
KISS1	603286	Hypogonadotropic hypogonadism, 146110 (3)
KISS1R	604161	Hypogonadotropic hypogonadism, 146110 (3)
KISS1R	604161	Precocious puberty, central, 176400 (3)
KIT	164920	Gastrointestinal stromal tumor, somatic, 606764 (3)
KIT	164920	Germ cell tumors, 273300 (3)
KIT	164920	Leukemia, acute myeloid, 601626 (3)
KIT	164920	Mast cell leukemia (3)
KIT	164920	Mastocytosis with associated hematologic disorder (3)
KIT	164920	Piebaldism (3)
KITLG	184745	Hyperpigmentation, familial progressive, 2, 145250 (3)
KITLG	184745	[Skin/hair/eye pigmentation 7, blond/brown hair], 611664 (3)
KLF1	600599	Anemia, dyserythropoietic congenital, type IV, 613673 (3)
KLF1	600599	Blood group--Lutheran inhibitor, 111150 (3)
KLF1	600599	[Hereditary persistence of fetal hemoglobin], 613566 (3)
KLF11	603301	Maturity-onset diabetes of the young, type VII, 610508 (3)
KLF6	602053	Gastric cancer, somatic, 137215 (3)
KLF6	602053	Prostate cancer, somatic, 176807 (3)
KLHDC8B	613169	Hodgkin lymphoma, 236000 (3)
KLHL3	605775	Pseudohypoaldosteronism, type IID, 614495 (3)
KLHL7	611119	Retinitis pigmentosa 42, 612943 (3)
KLK1	147910	[Kallikrein, decreased urinary activity of] (3)
KLK4	603767	Amelogenesis imperfecta, type IIA1, 204700 (3)
KLKB1	229000	Fletcher factor deficiency, 612423 (3)
KNG1	612358	[High molecular weight kininogen deficiency], 228960 (3)
KNG1	612358	[Kininogen deficiency], 228960 (3)
KRAS	190070	Bladder cancer, 109800 (3)
KRAS	190070	Breast cancer, somatic, 114480 (3)
KRAS	190070	Cardiofaciocutaneous syndrome, 115150 (3)
KRAS	190070	Gastric cancer, 137215 (3)
KRAS	190070	Leukemia, acute myelogenous (3)
KRAS	190070	Lung cancer, 211980 (3)
KRAS	190070	Noonan syndrome 3, 609942 (3)
KRAS	190070	Pancreatic carcinoma, somatic, 260350 (3)
KRIT1	604214	Cavernous malformations of CNS and retina, 116860 (3)
KRIT1	604214	Cerebral cavernous malformations-1, 116860 (3)
KRIT1	604214	Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 (3)
KRT1	139350	Epidermolytic hyperkeratosis, 113800 (3)
KRT1	139350	Ichthyosis histrix, Curth-Macklin type, 146590 (3)
KRT1	139350	Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
KRT1	139350	Keratosis palmoplantaris striata III, 607654 (3)
KRT1	139350	Palmoplantar keratoderma, epidermolytic, 144200 (3)
KRT1	139350	Palmoplantar keratoderma, nonepidermolytic, 600962 (3)
KRT10	148080	Epidermolytic hyperkeratosis, 113800 (3)
KRT10	148080	Ichthyosis with confetti, 609165 (3)
KRT10	148080	Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
KRT12	601687	Meesmann corneal dystrophy, 122100 (3)
KRT13	148065	White sponge nevus, 193900 (3)
KRT14	148066	Dermatopathia pigmentosa reticularis, 125595 (3)
KRT14	148066	Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3)
KRT14	148066	Epidermolysis bullosa simplex, Koebner type, 131900 (3)
KRT14	148066	Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)
KRT14	148066	Epidermolysis bullosa simplex, recessive, 601001 (3)
KRT14	148066	Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3)
KRT16	148067	Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200 (3)
KRT16	148067	Palmoplantar keratoderma, nonepidermolytic, 600962 (3)
KRT16	148067	Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3)
KRT16	148067	Palmoplantar verrucous nevus, unilateral, 144200 (3)
KRT17	148069	Pachyonychia congenita, Jackson-Lawler type, 167210 (3)
KRT17	148069	Steatocystoma multiplex, 184500 (3)
KRT18	148070	Cirrhosis, cryptogenic (3)
KRT18	148070	{Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)
KRT2	600194	Ichthyosis bullosa of Siemens, 146800 (3)
KRT3	148043	Meesmann corneal dystrophy, 122100 (3)
KRT4	123940	White sponge nevus, 193900 (3)
KRT5	148040	Dowling-Degos disease, 179850 (3)
KRT5	148040	Epidermolysis bullosa simplex with migratory circinate erythema, 609352 (3)
KRT5	148040	Epidermolysis bullosa simplex with mottled pigmentation, 131960 (3)
KRT5	148040	Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3)
KRT5	148040	Epidermolysis bullosa simplex, Koebner type, 131900 (3)
KRT5	148040	Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)
KRT6A	148041	Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200 (3)
KRT6B	148042	Pachyonychia congenita, Jackson-Lawler type, 167210 (3)
KRT74	608248	Hypotrichosis simplex of the scalp 2, 613981 (3)
KRT74	608248	Woolly hair, autosomal dominant, 194300 (3)
KRT75	609025	{Pseudofolliculitis barbae, susceptibility to}, 612318 (3)
KRT8	148060	Cirrhosis, cryptogenic (3)
KRT8	148060	{Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)
KRT81	602153	Monilethrix, 158000 (3)
KRT83	602765	Monilethrix, 158000 (3)
KRT85	602767	Ectodermal dysplasia, 'pure' hair-nail type, 602032 (3)
KRT86	601928	Monilethrix, 158000 (3)
KRT9	607606	Epidermolytic palmoplantar keratoderma, 144200 (3)
L1CAM	308840	CRASH syndrome, 303350 (3)
L1CAM	308840	Corpus callosum, partial agenesis of, 304100 (3)
L1CAM	308840	Hydrocephalus due to aqueductal stenosis, 307000 (3)
L1CAM	308840	Hydrocephalus with Hirschsprung disease, 307000 (3)
L1CAM	308840	Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3)
L1CAM	308840	MASA syndrome, 303350 (3)
L2HGDH	609584	L-2-hydroxyglutaric aciduria, 236792 (3)
LAMA2	156225	Muscular dystrophy, congenital merosin-deficient, 607855 (3)
LAMA2	156225	Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3)
LAMA3	600805	Epidermolysis bullosa, generalized atrophic benign, 226650 (3)
LAMA3	600805	Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
LAMA3	600805	Laryngoonychocutaneous syndrome, 245660 (3)
LAMB2	150325	Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3)
LAMB2	150325	Pierson syndrome, 609049 (3)
LAMB3	150310	Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
LAMB3	150310	Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
LAMC2	150292	Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
LAMC2	150292	Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
LAMC3	604349	Cortical malformations, occipital, 614115 (3)
LAMP2	309060	Danon disease, 300257 (3)
LAMTOR2	610389	Immunodeficiency due to defect in MAPBP-interacting protein, 610798 (3)
LARGE	603590	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3)
LARGE	603590	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3)
LBR	600024	HEM skeletal dysplasia, 215140 (3)
LBR	600024	Pelger-Huet anomaly, 169400 (3)
LBR	600024	Reynolds syndrome, 613471 (3)
LCA5	611408	Leber congenital amaurosis 5, 604537 (3)
LCAT	606967	Fish-eye disease, 136120 (3)
LCAT	606967	Norum disease, 245900 (3)
LCT	603202	Lactase deficiency, congenital, 223000 (3)
LDB3	605906	Cardiomyopathy, dilated 1C, 601493 (3)
LDB3	605906	Left ventricular noncompaction 3, with or without dilated cardiomyopathy, 601493 (3)
LDB3	605906	Myopathy, myofibrillar, ZASP-related, 609452 (3)
LDHA	150000	Glycogen storage disease XI, 612933 (3)
LDHB	150100	Lactate dehydrogenase-B deficiency, 614128 (3)
LDLR	606945	Hypercholesterolemia, familial, 143890 (3)
LDLR	606945	LDL cholesterol level QTL2, 143890 (3)
LDLRAP1	605747	Hypercholesterolemia, familial, autosomal recessive, 603813 (3)
LEF1	153245	Sebaceous tumors, somatic (3)
LEFTY2	601877	Left-right axis malformations (3)
LEMD3	607844	Buschke-Ollendorff syndrome, 166700 (3)
LEMD3	607844	Melorheostosis with osteopoikilosis, 155950 (3)
LEMD3	607844	Osteopoikilosis, 166700 (3)
LEP	164160	Obesity, morbid, with hypogonadism (3)
LEP	164160	Obesity, severe, due to leptin deficiency (3)
LEPR	601007	Obesity, morbid, with hypogonadism (3)
LEPRE1	610339	Osteogenesis imperfecta, type VIII, 610915 (3)
LEPREL1	610341	Myopia, high, with cataract and vitreoretinal degeneration, 614292 (3)
LFNG	602576	Spondylocostal dysostosis, autosomal recessive 3, 609813 (3)
LGALS2	150571	{Myocardial infarction, susceptibility to}, 608446 (3)
LGI1	604619	Epilepsy, familial temporal lobe, 1, 600512 (3)
LGR4	606666	{Schizophrenia, susceptibility to}, 181500 (3)
LHB	152780	Hypogonadism, hypergonadotropic (3)
LHCGR	152790	Leydig cell adenoma, somatic, with precocious puberty, 176410 (3)
LHCGR	152790	Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3)
LHCGR	152790	Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3)
LHCGR	152790	Luteinizing hormone resistance, female, 238320 (3)
LHCGR	152790	Precocious puberty, male, 176410 (3)
LHFPL5	609427	Deafness, autosomal recessive 67, 610265 (3)
LHX3	600577	Pituitary hormone deficiency, combined, 3, 221750 (3)
LHX4	602146	Pituitary hormone deficiency, combined, 4, 262700 (3)
LIAS	607031	Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 (3)
LIFR	151443	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
LIG1	126391	DNA ligase I deficiency (3)
LIG4	601837	LIG4 syndrome, 606593 (3)
LIG4	601837	Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450 (3)
LIG4	601837	{Multiple myeloma, resistance to}, 254500 (3)
LIM2	154045	Cataract, cortical pulverulent, late-onset (3)
LIPA	613497	Cholesteryl ester storage disease, 278000 (3)
LIPA	613497	Wolman disease, 278000 (3)
LIPC	151670	Hepatic lipase deficiency, 614025 (3)
LIPC	151670	[High density lipoprotein cholesterol level QTL 12], 612797 (3)
LIPC	151670	{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
LIPH	607365	Hypotrichosis, localized, autosomal recessive 2, 604379 (3)
LIPH	607365	Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379 (3)
LIPI	609252	{Hypertriglyceridemia, susceptibility to}, 145750 (3)
LIPN	613924	Ichthyosis, lamellar, 4, 613943 (3)
LITAF	603795	Charcot-Marie-Tooth disease, type 1C, 601098 (3)
LMAN1	601567	Combined factor V and VIII deficiency, 227300 (3)
LMBR1	605522	Acheiropody, 200500 (3)
LMBR1	605522	Polydactyly, preaxial type II, 174500 (3)
LMBR1	605522	Syndactyly, type IV, 186200 (3)
LMBR1	605522	Triphalangeal thumb, type I, 174500 (3)
LMBR1	605522	Triphalangeal thumb-polysyndactyly syndrome, 174500 (3)
LMBRD1	612625	Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)
LMF1	611761	Lipase deficiency, combined, 246650 (3)
LMNA	150330	Cardiomyopathy, dilated, 1A, 115200 (3)
LMNA	150330	Charcot-Marie-Tooth disease, type 2B1, 605588 (3)
LMNA	150330	Emery-Dreifuss muscular dystrophy 2, AD, 181350 (3)
LMNA	150330	Emery-Dreifuss muscular dystrophy 3, AR, 181350 (3)
LMNA	150330	Heart-hand syndrome, Slovenian type, 610140 (3)
LMNA	150330	Hutchinson-Gilford progeria, 176670 (3)
LMNA	150330	Lipodystrophy, familial partial, 2, 151660 (3)
LMNA	150330	Malouf syndrome, 212112 (3)
LMNA	150330	Mandibuloacral dysplasia, 248370 (3)
LMNA	150330	Muscular dystrophy, congenital, 613205 (3)
LMNA	150330	Muscular dystrophy, limb-girdle, type 1B, 159001 (3)
LMNA	150330	Restrictive dermopathy, lethal, 275210 (3)
LMNB1	150340	Leukodystrophy, adult-onset, autosomal dominant, 169500 (3)
LMNB2	150341	{Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3)
LMX1B	602575	Nail-patella syndrome, 161200 (3)
LOR	152445	Vohwinkel syndrome with ichthyosis, 604117 (3)
LOXHD1	613072	Deafness, autosomal recessive 77, 613079 (3)
LOXL1	153456	{Exfoliation syndrome, susceptibility to}, 177650 (3)
LPA	152200	[LPA deficiency, congenital] (3)
LPAR6	609239	Hypotrichosis 8, 278150 (3)
LPAR6	609239	Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150 (3)
LPIN1	605518	Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3)
LPIN2	605519	Majeed syndrome, 609628 (3)
LPL	609708	Combined hyperlipidemia, familial, 144250 (3)
LPL	609708	Lipoprotein lipase deficiency, 238600 (3)
LPL	609708	[High density lipoprotein cholesterol level QTL 11] (3)
LPP	600700	Leukemia, acute myeloid, 601626 (3)
LPP	600700	Lipoma (3)
LRAT	604863	Leber congenital amaurosis 14, 613341 (3)
LRAT	604863	Retinal dystrophy, early-onset severe, 613341 (3)
LRAT	604863	Retinitis pigmentosa, juvenile, 613341 (3)
LRP2	600073	Donnai-Barrow syndrome, 222448 (3)
LRP4	604270	Cenani-Lenz syndactyly syndrome, 212780 (3)
LRP4	604270	Sclerosteosis 2, 614305 (3)
LRP5	603506	Exudative vitreoretinopathy 4, 601813 (3)
LRP5	603506	Hyperostosis, endosteal, 144750 (3)
LRP5	603506	Osteopetrosis, autosomal dominant 1, 607634 (3)
LRP5	603506	Osteoporosis-pseudoglioma syndrome, 259770 (3)
LRP5	603506	Osteosclerosis, 144750 (3)
LRP5	603506	[Bone mineral density variability 1], 601884 (3)
LRP5	603506	van Buchem disease, type 2, 607636 (3)
LRP5	603506	{Osteoporosis}, 166710 (3)
LRP6	603507	{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
LRP8	602600	{Myocardial infarction, susceptibility to}, 608446 (3)
LRPPRC	607544	Leigh syndrome, French-Canadian type, 220111 (3)
LRRC8A	608360	Agammaglobulinemia 5, 613506 (3)
LRRK2	609007	Parkinson disease-8, 607060 (3)
LRSAM1	610933	Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3)
LRTOMT	612414	Deafness, autosomal recessive 63, 611451 (3)
LTA	153440	{Leprosy, susceptibility to, 4}, 610988 (3)
LTA	153440	{Myocardial infarction, susceptibility to}, 608446 (3)
LTA	153440	{Psoriatic arthritis, susceptibility to}, 607507 (3)
LTBP2	602091	Glaucoma 3, primary congenital, D, 613086 (3)
LTBP3	602090	Tooth agenesis, selective, 6, 613097 (3)
LTBP4	604710	Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities, 613177 (3)
LYST	606897	Chediak-Higashi syndrome, 214500 (3)
LYZ	153450	Amyloidosis, renal, 105200 (3)
LZTS1	606551	Esophageal squamous cell carcinoma, 133239 (3)
MAD1L1	602686	Lymphoma, somatic (3)
MAD1L1	602686	Prostate cancer, somatic, 176807 (3)
MAF	177075	Cataract, pulverulent or cerulean, with or without microcornea (3)
MAGT1	300715	Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 (3)
MAGT1	300715	Mental retardation, X-linked 95, 300716 (3)
MAK	154235	REtinitis pigmentosa 62, 614181 (3)
MALT1	604860	MALT lymphoma (3)
MAML2	607537	Mucoepidermoid salivary gland carcinoma (3)
MAMLD1	300120	Hypospadias 2, X-linked, 300758 (3)
MAN1B1	604346	Mental retardation, autosomal recessive 15, 614202 (3)
MAN2B1	609458	Mannosidosis, alpha-, types I and II, 248500 (3)
MANBA	609489	Mannosidosis, beta, 248510 (3)
MAOA	309850	Brunner syndrome, 300615 (3)
MAP2K1	176872	Cardiofaciocutaneous syndrome, 115150 (3)
MAP2K2	601263	Cardiofaciocutaneous syndrome, 115150 (3)
MAP3K1	600982	46XY sex reversal 6, 613762 (3)
MAP3K8	191195	Lung cancer, somatic, 211980 (3)
MAPK10	602897	Epileptic encephalopathy, Lennox-Gastaut type, 606369 (3)
MAPK8IP1	604641	{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
MAPT	157140	Dementia, frontotemporal, with or without parkinsonism, 600274 (3)
MAPT	157140	Pick disease, 172700 (3)
MAPT	157140	Supranuclear palsy, progressive atypical, 260540 (3)
MAPT	157140	Supranuclear palsy, progressive, 601104 (3)
MAPT	157140	Tauopathy and respiratory failure (3)
MAPT	157140	{Parkinson disease, susceptibility to}, 168600 (3)
MARVELD2	610572	Deafness, autosomal recessive 49, 610153 (3)
MASP2	605102	MASP2 deficiency, 613791 (3)
MASTL	608221	Thrombocytopenia-2, 188000 (3)
MAT1A	610550	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3)
MAT1A	610550	Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
MATN3	602109	Epiphyseal dysplasia, multiple, 5, 607078 (3)
MATN3	602109	Spondyloepimetaphyseal dysplasia, 608728 (3)
MATN3	602109	{Osteoarthritis susceptibility 2}, 140600 (3)
MATR3	164015	Myopathy, distal 2, 606070 (3)
MAX	154950	{Pheochromocytoma, susceptibility to}, 171300 (3)
MBD5	611472	Mental retardation, autosomal dominant 1, 156200 (3)
MBL2	154545	{Chronic infections, due to MBL deficiency}, 614372 (3)
MBTPS2	300294	IFAP syndrome with or without BRESHECK syndrome, 308205 (3)
MBTPS2	300294	Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3)
MC1R	155555	[Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3)
MC1R	155555	[Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3)
MC1R	155555	[Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3)
MC1R	155555	{Melanoma, cutaneous malignant, 5}, 613099 (3)
MC1R	155555	{Oculocutaneous albinism, type II, modifier of}, 203200 (3)
MC1R	155555	{UV-induced skin damage}, 266300 (3)
MC2R	607397	Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3)
MC3R	155540	{Mycobacterium tuberculosis, protection against}, 607948 (3)
MC3R	155540	{Obesity, severe, susceptibility to, BMIQ9}, 602025 (3)
MC4R	155541	Obesity, autosomal dominant, 601665 (3)
MCC	159350	Colorectal cancer (3)
MCCC1	609010	3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)
MCCC2	609014	3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3)
MCEE	608419	Methylmalonyl-CoA epimerase deficiency, 251120 (3)
MCFD2	607788	Factor V and factor VIII, combined deficiency of, 613625 (3)
MCM6	601806	Lactase persistance/nonpersistance, 223100 (3)
MCOLN1	605248	Mucolipidosis IV, 252650 (3)
MCPH1	607117	Microcephaly, primary autosomal recessive, 1, 251200 (3)
MDM2	164785	{Accelerated tumor formation, susceptibility to}, 614401 (3)
ME2	154270	{Epilepsy, idiopathic generalized, susceptibility to}, 600669 (3)
ME2	154270	{Opioid dependence, susceptibility to}, 610064 (3)
MECP2	300005	Angelman syndrome, 105830 (3)
MECP2	300005	Encephalopathy, neonatal severe, 300673 (3)
MECP2	300005	Mental retardation, X-linked syndromic, Lubs type, 300260 (3)
MECP2	300005	Mental retardation, X-linked, syndromic 13, 300055 (3)
MECP2	300005	Rett syndrome, 312750 (3)
MECP2	300005	Rett syndrome, preserved speech variant, 312750 (3)
MECP2	300005	{Autism susceptibility, X-linked 3}, 300496 (3)
MED12	300188	Lujan-Fryns syndrome, 309520 (3)
MED12	300188	Opitz-Kaveggia syndrome, 305450 (3)
MED13L	608771	Transposition of the great arteries, dextro-looped 1, 608808 (3)
MED17	603810	Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)
MED23	605042	Mental retardation, autosomal recessive 18, 614249 (3)
MED25	610197	Charcot-Marie-Tooth disease, type 2B2, 605589 (3)
MEF2A	600660	{Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MEF2C	600662	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 (3)
MEFV	608107	Familial Mediterranean fever, AD, 134610 (3)
MEFV	608107	Familial Mediterranean fever, AR, 249100 (3)
MEGF10	612453	Myopathy, early-onset, areflexia, respiratory distress, and dysphagia, 614399 (3)
MEN1	613733	Adrenal adenoma, somatic (3)
MEN1	613733	Angiofibroma, somatic (3)
MEN1	613733	Carcinoid tumor of lung (3)
MEN1	613733	Lipoma, somatic (3)
MEN1	613733	Multiple endocrine neoplasia 1, 131100 (3)
MEN1	613733	Parathyroid adenoma, somatic (3)
MERTK	604705	Retinitis pigmentosa 38, 613862 (3)
MESP2	605195	Spondylocostal dysostosis, autosomal recessive 2, 608681 (3)
MET	164860	Hepatocellular carcinoma, childhood type, 114550 (3)
MET	164860	Renal cell carcinoma, papillary, familial and somatic, 605074 (3)
MET	164860	{Autism suseptibility 9}, 611015 (3)
MFN2	608507	Charcot-Marie-Tooth disease, type 2A2, 609260 (3)
MFN2	608507	Hereditary motor and sensory neuropathy VI, 601152 (3)
MFRP	606227	Microphthalmia, isolated 5, 611040 (3)
MFSD8	611124	Ceroid lipofuscinosis, neuronal, 7, 610951 (3)
MGAT2	602616	Congenital disorder of glycosylation, type IIa, 212066 (3)
MGP	154870	Keutel syndrome, 245150 (3)
MIAT	611082	{Myocardial infarction, susceptibility to}, 608446 (3)
MID1	300552	Opitz GBBB syndrome, type I, 300000 (3)
MIF	153620	{Rheumatoid arthritis, systemic juvenile, susceptibility to}, 604302 (3)
MINPP1	605391	Thyroid carcinoma, follicular, 188470 (3)
MIP	154050	Cataract, polymorphic and lamellar, 604219 (3)
MIR17HG	609415	Feingold syndrome 2, 614326 (3)
MIR184	613146	Keratoconus with cataract, 614303 (3)
MIR2861	613405	[Bone mineral density QTL 15], 613418 (3)
MIR96	611606	Deafness, autosomal dominant 50, 613074 (3)
MITF	156845	Tietz albinism-deafness syndrome, 103500 (3)
MITF	156845	Waardenburg syndrome, type 2A, 193510 (3)
MITF	156845	Waardenburg syndrome/ocular albinism, digenic, 103470 (3)
MKKS	604896	Bardet-Biedl syndrome 6, 209900 (3)
MKKS	604896	McKusick-Kaufman syndrome, 236700 (3)
MKL1	606078	Megakaryoblastic leukemia, acute (3)
MKS1	609883	Bardet-Biedl syndrome 13, 209900 (3)
MKS1	609883	Meckel syndrome, type 1, 249000 (3)
MLC1	605908	Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)
MLH1	120436	Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3)
MLH1	120436	Mismatch repair cancer syndrome, 276300 (3)
MLH1	120436	Muir-Torre syndrome, 158320 (3)
MLH3	604395	Colon cancer, hereditary nonpolyposis, type 7, 614385 (3)
MLH3	604395	Colorectal cancer, somatic, 114500 (3)
MLH3	604395	Endometrial cancer, 608089 (3)
MLL2	602113	Kabuki syndrome 1, 147920 (3)
MLLT10	602409	Leukemia, acute T-cell lymphoblastic (3)
MLLT10	602409	Leukemia, acute myeloid, 601626 (3)
MLLT11	604684	Leukemia, acute myelomonocytic (3)
MLPH	606526	Griscelli syndrome, type 3, 609227 (3)
MLYCD	606761	Malonyl-CoA decarboxylase deficiency, 248360 (3)
MMAA	607481	Methylmalonic aciduria, vitamin B12-responsive, 251100 (3)
MMAB	607568	Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)
MMACHC	609831	Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)
MMADHC	611935	Homocystinuria, cblD type, variant 1, 277410 (3)
MMADHC	611935	Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3)
MMADHC	611935	Methylmalonic aciduria, cblD type, variant 2, 277410 (3)
MMP1	120353	COPD, rate of decline of lung function in, 606963 (3)
MMP1	120353	{Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3)
MMP13	600108	Metaphyseal anadysplasia 1, 602111 (3)
MMP13	600108	Spondyloepimetaphyseal dysplasia, Missouri type, 602111 (3)
MMP2	120360	Torg-Winchester syndrome, 259600 (3)
MMP20	604629	Amelogenesis imperfecta, type IIA2, 612529 (3)
MMP3	185250	{Coronary heart disease, susceptibility to, 6}, 614466 (3)
MMP9	120361	Metaphyseal anadysplasia 2, 613073 (3)
MN1	156100	Meningioma, 607174 (3)
MNX1	142994	Currarino syndrome, 176450 (3)
MOCS1	603707	Molybdenum cofactor deficiency, type A, 252150 (3)
MOCS2	603708	Molybdenum cofactor deficiency, type B, 252150 (3)
MOG	159465	Narcolepsy 7, 614250 (3)
MOGS	601336	Congenital disorder of glycosylation, type IIb, 606056 (3)
MPDU1	604041	Congenital disorder of glycosylation, type If, 609180 (3)
MPI	154550	Congenital disorder of glycosylation, type Ib, 602579 (3)
MPL	159530	Myelofibrosis with myeloid metaplasia, somatic, 254450 (3)
MPL	159530	Thrombocythemia 2, 601977 (3)
MPL	159530	Thrombocytopenia, congenital amegakaryocytic, 604498 (3)
MPLKIP	609188	Trichothiodystrophy, nonphotosensitive 1, 234050 (3)
MPO	606989	Myeloperoxidase deficiency, 254600 (3)
MPO	606989	{Alzheimer disease, susceptibility to}, 104300 (3)
MPO	606989	{Lung cancer, protection against, in smokers} (3)
MPV17	137960	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)
MPZ	159440	Charcot-Marie-Tooth disease, dominant intermediate 3, 607791 (3)
MPZ	159440	Charcot-Marie-Tooth disease, type 1B, 118200 (3)
MPZ	159440	Charcot-Marie-Tooth disease, type 2I, 607677 (3)
MPZ	159440	Charcot-Marie-Tooth disease, type 2J, 607736 (3)
MPZ	159440	Dejerine-Sottas disease, 145900 (3)
MPZ	159440	Neuropathy, congenital hypomyelinating, 605253 (3)
MPZ	159440	Roussy-Levy syndrome, 180800 (3)
MRAP	609196	Glucocorticoid deficiency 2, 607398 (3)
MRE11A	600814	Ataxia-telangiectasia-like disorder, 604391 (3)
MRPS16	609204	Combined oxidative phosphorylation deficiency 2, 610498 (3)
MRPS22	605810	Combined oxidative phosphorylation deficiency 5, 611719 (3)
MRT9	611095	Mental retardation, autosomal recessive, 9/26 (3)
MS4A1	112210	Immunodeficiency, common variable, 5, 613495 (3)
MS4A2	147138	{Atopy, susceptibility to}, 147050 (3)
MSH2	609309	Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3)
MSH2	609309	Mismatch repair cancer syndrome, 276300 (3)
MSH2	609309	Muir-Torre syndrome, 158320 (3)
MSH3	600887	Endometrial carcinoma (3)
MSH6	600678	Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3)
MSH6	600678	Endometrial cancer, familial, 608089 (3)
MSH6	600678	Mismatch repair cancer syndrome, 276300 (3)
MSMB	157145	{Prostate cancer, hereditary, 13}, 611928 (3)
MSR1	153622	Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
MSR1	153622	Prostate cancer, hereditary, 176807 (3)
MSRB3	613719	Deafness, autosomal recessive 74, 613718 (3)
MSTN	601788	Muscle hypertrophy, 614160 (3)
MSX1	142983	Orofacial cleft 5, 608874 (3)
MSX1	142983	Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (3)
MSX1	142983	Witkop syndrome, 189500 (3)
MSX2	123101	Craniosynostosis, type 2, 604757 (3)
MSX2	123101	Parietal foramina 1, 168500 (3)
MSX2	123101	Parietal foramina with cleidocranial dysplasia, 168550 (3)
MTHFD1	172460	{Abruptio placentae, susceptibility to} (3)
MTHFD1	172460	{Spina bifida, folate-sensitive, susceptibility to}, 601634 (3)
MTHFR	607093	Homocystinuria due to MTHFR deficiency, 236250 (3)
MTHFR	607093	{Neural tube defects, susceptibility to}, 601634 (3)
MTHFR	607093	{Schizophrenia, susceptibility to}, 181500 (3)
MTHFR	607093	{Thromboembolism, susceptibility to}, 188050 (3)
MTHFR	607093	{Vascular disease, susceptibility to} (3)
MTM1	300415	Myotubular myopathy, X-linked, 310400 (3)
MTMR14	611089	{Centronuclear myopathy, autosomal, modifier of}, 160150 (3)
MTMR2	603557	Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
MTNR1B	600804	{Diabetes mellitus, type 2, susceptiblity to}, 125853 (3)
MTPAP	613669	Ataxia, spastic, 4, 613672 (3)
MTR	156570	Methylcobalamin deficiency, cblG type, 250940 (3)
MTR	156570	{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MTRR	602568	Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)
MTRR	602568	{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MTTP	157147	Abetalipoproteinemia, 200100 (3)
MTTP	157147	{Metabolic syndrome, protection against}, 605552 (3)
MUC5B	600770	{Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
MUC7	158375	{Asthma, protection against}, 600807 (3)
MUSK	601296	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931 (3)
MUT	609058	Methylmalonic aciduria, mut(0) type, 251000 (3)
MUTYH	604933	Adenomas, multiple colorectal, 608456 (3)
MUTYH	604933	Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 (3)
MUTYH	604933	Gastric cancer, somatic, 137215 (3)
MVK	251170	Hyper-IgD syndrome, 260920 (3)
MVK	251170	Mevalonic aciduria, 610377 (3)
MXI1	600020	Neurofibrosarcoma (3)
MXI1	600020	{Prostate cancer, susceptibility to}, 176807 (3)
MYB	189990	{T-cell acute lymphoblastic leukemia} (3)
MYBPC1	160794	Arthrogryposis, distal, type 1B, 614335 (3)
MYBPC3	600958	?Cardiomyopathy, dilated, 115200 (3)
MYBPC3	600958	Cardiomyopathy, familial hypertrophic, 4, 115197 (3)
MYC	190080	Burkitt lymphoma, 113970 (3)
MYCN	164840	Feingold syndrome, 164280 (3)
MYD88	602170	Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3)
MYF6	159991	Myopathy, centronuclear, 3, 614408 (3)
MYH11	160745	Aortic aneurysm, familial thoracic 4, 132900 (3)
MYH14	608568	Deafness, autosomal dominant 4, 600652 (3)
MYH14	608568	Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3)
MYH2	160740	Inclusion body myopathy-3, 605637 (3)
MYH3	160720	Arthrogryposis, distal, type 2A, 193700 (3)
MYH3	160720	Arthrogryposis, distal, type 2B, 601680 (3)
MYH6	160710	Atrial septal defect 3, 614089 (3)
MYH6	160710	Cardiomyopathy, dilated, 1EE, 613252 (3)
MYH6	160710	Cardiomyopathy, familial hypertrophic, 14, 613251 (3)
MYH6	160710	{Sick sinus syndrome 3}, 614090 (3)
MYH7	160760	Cardiomyopathy, dilated, 1S, 613426 (3)
MYH7	160760	Cardiomyopathy, familial hypertrophic, 1, 192600 (3)
MYH7	160760	Laing distal myopathy, 160500 (3)
MYH7	160760	Left ventricular noncompaction 5, 613426 (3)
MYH7	160760	Myopathy, myosin storage, 608358 (3)
MYH7	160760	Scapuloperoneal syndrome, myopathic type, 181430 (3)
MYH8	160741	Carney complex variant, 608837 (3)
MYH8	160741	Trismus-pseudocamptodactyly syndrome, 158300 (3)
MYH9	160775	Deafness, autosomal dominant 17, 603622 (3)
MYH9	160775	Epstein syndrome, 153650 (3)
MYH9	160775	Fechtner syndrome, 153640 (3)
MYH9	160775	Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3)
MYH9	160775	May-Hegglin anomaly, 155100 (3)
MYH9	160775	Sebastian syndrome, 605249 (3)
MYL2	160781	Cardiomyopathy, familial hypertrophic, 10, 608758 (3)
MYL3	160790	Cardiomyopathy, familial hypertrophic, 8, 608751 (3)
MYLK	600922	Aortic aneurysm, familial thoracic 7, 613780 (3)
MYLK2	606566	Cardiomyopathy, hypertrophic, midventricular, digenic, 192600 (3)
MYMY3	608796	Moyamoya disease 3 (3)
MYO15A	602666	Deafness, autosomal recessive 3, 600316 (3)
MYO1A	601478	Deafness, autosomal dominant 48, 607841 (3)
MYO1E	601479	Glomerulosclerosis, focal segmental, 6, 614131 (3)
MYO3A	606808	Deafness, autosomal recessive 30, 607101 (3)
MYO5A	160777	Griscelli syndrome, type 1, 214450 (3)
MYO5B	606540	Microvillus inclusion disease, 251850 (3)
MYO6	600970	Deafness, autosomal dominant 22, 606346 (3)
MYO6	600970	Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 (3)
MYO6	600970	Deafness, autosomal recessive 37, 607821 (3)
MYO7A	276903	Deafness, autosomal dominant 11, 601317 (3)
MYO7A	276903	Deafness, autosomal recessive 2, 600060 (3)
MYO7A	276903	Usher syndrome, type 1B, 276900 (3)
MYO9B	602129	{Celiac disease, susceptibility to, 4}, 609753 (3)
MYOC	601652	Glaucoma 1A, primary open angle, juvenile-onset, 137750 (3)
MYOC	601652	Glaucoma 1A, primary open angle, recessive (3)
MYOC	601652	Glaucoma, early-onset, digenic (3)
MYOT	604103	Muscular dystrophy, limb-girdle, type 1A, 159000 (3)
MYOT	604103	Myopathy, spheroid body, 182920 (3)
MYOT	604103	Myotilinopathy, 609200 (3)
MYOZ2	605602	Cardiomyopathy, familial hypertrophic, 16, 613838 (3)
NAA10	300013	N-terminal acetyltransferase deficiency, 300855 (3)
NAGA	104170	Kanzaki disease, 609242 (3)
NAGA	104170	Schindler disease, type I, 609241 (3)
NAGA	104170	Schindler disease, type III, 609241 (3)
NAGLU	609701	Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)
NAGS	608300	N-acetylglutamate synthase deficiency, 237310 (3)
NAT2	612182	[Acetylation, slow], 243400 (3)
NAT8L	610647	N-acetylaspartate deficiency, 614063 (3)
NBEAL2	614169	Gray platelet syndrome, 139090 (3)
NBEAP1	601889	Lymphoma, diffuse large cell (3)
NBN	602667	Leukemia, acute lymphoblastic (3)
NBN	602667	Nijmegen breakage syndrome, 251260 (3)
NCF1	608512	Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)
NCF2	608515	Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
NCF4	601488	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3)
NCOA4	601984	Thyroid carcinoma, papillary, 188550 (3)
NCR3	611550	{Malaria, mild, susceptibility to}, 609148 (3)
NCSTN	605254	Acne inversa, familial, 1, 142690 (3)
NDE1	609449	Lissencephaly 4 (with microcephaly), 614019 (3)
NDN	602117	Prader-Willi syndrome, 176270 (3)
NDP	300658	Exudative vitreoretinopathy, X-linked, 305390 (3)
NDP	300658	Norrie disease, 310600 (3)
NDRG1	605262	Charcot-Marie-Tooth disease, type 4D, 601455 (3)
NDUFA1	300078	Mitochondrial complex I deficiency, 252010 (3)
NDUFA10	603835	Leigh syndrome, 256000 (3)
NDUFA11	612638	Mitochondrial complex I deficiency, 252010 (3)
NDUFA12	614530	Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
NDUFA13	609435	{Thyroid carcinoma, Hurthle cell}, 607464 (3)
NDUFA2	602137	Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
NDUFA9	603834	Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
NDUFAF1	606934	Mitochondrial complex I deficiency, 252010 (3)
NDUFAF2	609653	Leigh syndrome, 256000 (3)
NDUFAF2	609653	Mitochondrial complex I deficiency, 252010 (3)
NDUFAF3	612911	Mitochondrial complex I deficiency, 252010 (3)
NDUFAF4	611776	Mitochondrial complex I deficiency, 252010 (3)
NDUFB3	603839	Mitochondrial complex I deficiency, 252010 (3)
NDUFS1	157655	Mitochondrial complex I deficiency, 252010 (3)
NDUFS2	602985	Mitochondrial complex I deficiency, 252010 (3)
NDUFS3	603846	Leigh syndrome, 256000 (3)
NDUFS4	602694	Leigh syndrome, 256000 (3)
NDUFS4	602694	Mitochondrial complex I deficiency, 252010 (3)
NDUFS6	603848	Complex I, mitochondrial respiratory chain, deficiency of, 252010 (3)
NDUFS7	601825	Leigh syndrome, 256000 (3)
NDUFS8	602141	Leigh syndrome, 256000 (3)
NDUFV1	161015	Mitochondrial complex I deficiency, 252010 (3)
NDUFV2	600532	Mitochondrial complex I deficiency, 252010 (3)
NEB	161650	Nemaline myopathy 2, autosomal recessive, 256030 (3)
NEFH	162230	{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
NEFL	162280	Charcot-Marie-Tooth disease, type 1F, 607734 (3)
NEFL	162280	Charcot-Marie-Tooth disease, type 2E, 607684 (3)
NEK1	604588	Short rib-polydactyly syndorme, type II, 263520 (3)
NEK8	609799	Nephronophthisis 9, 613824 (3)
NELF	608137	Hypogonadotropic hypogonadism, 146110 (3)
NEU1	608272	Sialidosis, type I, 256550 (3)
NEU1	608272	Sialidosis, type II, 256550 (3)
NEUROD1	601724	Maturity-onset diabetes of the young 6, 606394 (3)
NEUROD1	601724	{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
NEUROG3	604882	Diarrhea 4, malabsorptive, congenital, 610370 (3)
NEXN	613121	Cardiomyopathy, dilated, 1CC, 613122 (3)
NEXN	613121	Cardiomyopathy, familial hypertrophic, 20, 613876 (3)
NF1	613113	Leukemia, juvenile myelomonocytic, 607785 (3)
NF1	613113	Neurofibromatosis, familial spinal, 162210 (3)
NF1	613113	Neurofibromatosis, type 1, 162200 (3)
NF1	613113	Neurofibromatosis-Noonan syndrome, 601321 (3)
NF1	613113	Watson syndrome, 193520 (3)
NF2	607379	Meningioma, NF2-related, somatic, 607174 (3)
NF2	607379	Neurofibromatosis, type 2, 101000 (3)
NF2	607379	Schwannomatosis, 162091 (3)
NFKBIA	164008	Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, 612132 (3)
NFKBIL1	601022	{Rheumatoid arthritis, susceptibility to}, 180300 (3)
NFU1	608100	Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)
NGF	162030	Neuropathy, hereditary sensory and autonomic, type V, 608654 (3)
NHEJ1	611290	Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3)
NHLRC1	608072	Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
NHP2	606470	Dyskeratosis congenita, autosomal recessive 2, 613987 (3)
NHS	300457	Cataract, congenital, X-linked, 302200 (3)
NHS	300457	Nance-Horan syndrome, 302350 (3)
NIPA1	608145	Spastic paraplegia-6, 600363 (3)
NIPAL4	609383	Ichthyosis, congenital, autosomal recessive, 612281 (3)
NIPBL	608667	Cornelia de Lange syndrome 1, 122470 (3)
NKX2-1	600635	Chorea, hereditary benign, 118700 (3)
NKX2-1	600635	Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 (3)
NKX2-5	600584	Atrial septal defect 7, with or without AV conduction defects, 108900 (3)
NKX2-5	600584	Atrioventricular block, second-degree (3)
NKX2-5	600584	Conotruncal heart malformations, variable, 217095 (3)
NKX2-5	600584	Hypoplastic left heart syndrome 2, 614435 (3)
NKX2-5	600584	Hypothyroidism, congenital nongoitrous, 5, 225250 (3)
NKX2-5	600584	Tetrology of Fallot, 187500 (3)
NKX2-5	600584	Ventricular septal defect 3, 614432 (3)
NKX2-6	611770	Persistent truncus arteriosus, 217095 (3)
NKX3-2	602183	Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3)
NLGN3	300336	{Asperger syndrome susceptibility, X-linked 1}, 300494 (3)
NLGN3	300336	{Autism susceptibility, X-linked 1}, 300425 (3)
NLGN4X	300427	Mental retardation, X-linked, 300495 (3)
NLGN4X	300427	{Asperger syndrome susceptibility, X-linked 2}, 300497 (3)
NLGN4X	300427	{Autism susceptibility, X-linked 2}, 300495 (3)
NLRP1	606636	{Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3)
NLRP12	609648	Familial cold autoinflammatory syndrome 2, 611762 (3)
NLRP3	606416	CINCA syndrome, 607115 (3)
NLRP3	606416	Cold-induced autoinflammatory syndrome, familial, 120100 (3)
NLRP3	606416	Muckle-Wells syndrome, 191900 (3)
NLRP7	609661	Hydatidiform mole, 231090 (3)
NME1	156490	Neuroblastoma, 256700 (3)
NOBOX	610934	Premature ovarian failure 5, 611548 (3)
NOD2	605956	Blau syndrome, 186580 (3)
NOD2	605956	Sarcoidosis, early-onset, 609464 (3)
NOD2	605956	{Inflammatory bowel disease 1}, 266600 (3)
NOD2	605956	{Psoriatic arthritis, susceptibility to}, 607507 (3)
NODAL	601265	Heterotaxy, visceral, 5, 270100 (3)
NOG	602991	Brachydactyly, type B2, 611377 (3)
NOG	602991	Multiple synostosis syndrome 1, 186500 (3)
NOG	602991	Stapes ankylosis with broad thumb and toes, 184460 (3)
NOG	602991	Symphalangism, proximal, 185800 (3)
NOG	602991	Tarsal-carpal coalition syndrome, 186570 (3)
NOP10	606471	Dyskeratosis congenita, autosomal recessive 1, 224230 (3)
NOP56	614154	Spinocerebellar ataxia 36, 614153 (3)
NOS2	163730	{Malaria, resistance to}, 611162 (3)
NOS3	163729	{Alzheimer disease, late-onset, susceptibility to}, 104300 (3)
NOS3	163729	{Coronary artery spasm 1, susceptibility to} (3)
NOS3	163729	{Hypertension, pregnancy-induced}, 189800 (3)
NOS3	163729	{Hypertension, susceptibility to}, 145500 (3)
NOS3	163729	{Ischemic stroke, susceptibility to}, 601367 (3)
NOS3	163729	{Placental abruption} (3)
NOTCH1	190198	Aortic valve disease, 109730 (3)
NOTCH2	600275	Alagille syndrome 2, 610205 (3)
NOTCH2	600275	Hajdu-Cheney syndrome, 102500 (3)
NOTCH3	600276	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, 125310 (3)
NPC1	607623	Niemann-Pick disease, type C1, 257220 (3)
NPC1	607623	Niemann-Pick disease, type D, 257220 (3)
NPC1L1	608010	[Ezetimibe, nonresponse to] (3)
NPC2	601015	Niemann-pick disease, type C2, 607625 (3)
NPHP1	607100	Joubert syndrome 4, 609583 (3)
NPHP1	607100	Nephronophthisis 1, juvenile, 256100 (3)
NPHP1	607100	Senior-Loken syndrome-1, 266900 (3)
NPHP3	608002	Meckel syndrome 7, 267010 (3)
NPHP3	608002	Nephronophthisis 3, 604387 (3)
NPHP3	608002	Renal-hepatic-pancreatic dysplasia, 208540 (3)
NPHP4	607215	Nephronophthisis 4, 606966 (3)
NPHP4	607215	Senior-Loken syndrome 4, 606996 (3)
NPHS1	602716	Nephrotic syndrome, type 1, 256300 (3)
NPHS2	604766	Nephrotic syndrome, type 2, 600995 (3)
NPM1	164040	Leukemia, acute myeloid, 601626 (3)
NPM1	164040	Leukemia, acute promyelocytic, NPM/RARA type (3)
NPPA	108780	Atrial fibrillation, familial, 6, 612201 (3)
NPR2	108961	Acromesomelic dysplasia, Maroteaux type, 602875 (3)
NPSR1	608595	{Asthma, susceptibility to, 2}, 608584 (3)
NQO1	125860	{Benzene toxicity, susceptibility to} (3)
NQO1	125860	{Breast cancer, poor survival after chemotherapy for} (3)
NQO1	125860	{Leukemia, post-chemotherapy, susceptibility to} (3)
NR0B1	300473	46XY sex reversal 2, dosage-sensitive, 300018 (3)
NR0B1	300473	Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism, 300200 (3)
NR0B2	604630	Obesity, mild, early-onset, 601665 (3)
NR2E3	604485	Enhanced S-cone syndrome, 268100 (3)
NR2E3	604485	Retinitis pigmentosa 37, 611131 (3)
NR3C1	138040	Cortisol resistance (3)
NR3C2	600983	Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3)
NR3C2	600983	Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3)
NR4A3	600542	Chondrosarcoma, extraskeletal myxoid, 612237 (3)
NR5A1	184757	46XY sex reversal 3, 612965 (3)
NR5A1	184757	Adrenocortical insufficiency (3)
NR5A1	184757	Premature ovarian failure 7, 612964 (3)
NR5A1	184757	Spermatogenic failure 8, 613957 (3)
NRAS	164790	Autoimmune lymphoproliferative syndrome type IV, 614470 (3)
NRAS	164790	Colorectal cancer, 114500 (3)
NRAS	164790	Noonan syndrome 6, 613224 (3)
NRAS	164790	Thyroid carcinoma, follicular, 188470 (3)
NRL	162080	Retinal degeneration, autosomal recessive, clumped pigment type (3)
NRL	162080	Retinitis pigmentosa 27, 613750 (3)
NRXN1	600565	Pitt-Hopkins-like syndrome 2, 614325 (3)
NRXN1	600565	{Schizophrenia, susceptibility to, 17}, 614332 (3)
NSD1	606681	Beckwith-Wiedemann syndrome, 130650 (3)
NSD1	606681	Sotos syndrome, 117550 (3)
NSD1	606681	Weaver syndrome, 277590 (3)
NSDHL	300275	CHILD syndrome, 308050 (3)
NSDHL	300275	CK syndrome, 300831 (3)
NT5C3	606224	Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3)
NT5E	129190	Calcification of joints and arteries, 211800 (3)
NTF4	162662	Glaucoma 1, open angle, 1O, 613100 (3)
NTRK1	191315	Insensitivity to pain, congenital, with anhidrosis, 256800 (3)
NTRK1	191315	Medullary thyroid carcinoma, familial, 155240 (3)
NTRK2	600456	Obesity, hyperphagia, and developmental delay, 613886 (3)
NUBPL	613621	Mitochondrial complex I deficiency, 252010 (3)
NUMA1	164009	Leukemia, acute promyelocytic, NUMA/RARA type (3)
NUP214	114350	Leukemia, T-cell acute lymphoblastic (3)
NUP214	114350	Leukemia, acute myeloid, 601626 (3)
NUP62	605815	Striatonigral degeneration, infantile, 271930 (3)
NYX	300278	Night blindness, congenital stationary, type 1A, 310500 (3)
OAS1	164350	{Diabetes mellitus, type 1, susceptibility to}, 222100 (3)
OAS1	164350	{Viral infection, susceptibility to} (3)
OAT	613349	Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3)
OBSL1	610991	3-M syndrome 2, 612921 (3)
OCA2	611409	Albinism, brown oculocutaneous, 203200 (3)
OCA2	611409	Albinism, oculocutaneous, type II, 203200 (3)
OCA2	611409	[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)
OCA2	611409	[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
OCLN	602876	Band-like calcification with simplified gyration and polymicrogyria, 251290 (3)
OCRL	300535	Dent disease 2, 300555 (3)
OCRL	300535	Lowe syndrome, 309000 (3)
ODC1	165640	{Colonic adenoma recurrence, reduced risk of}, 114500 (3)
OFD1	300170	Joubert syndrome 10, 300804 (3)
OFD1	300170	Oral-facial-digital syndrome 1, 311200 (3)
OFD1	300170	Simpson-Golabi-Behmel syndrome, type 2, 300209 (3)
OGG1	601982	Renal cell carcinoma, clear cell, somatic, 144700 (3)
OLR1	602601	{Myocardial infarction, susceptibility to}, 608446 (3)
OPA1	605290	Optic atrophy 1, 165500 (3)
OPA1	605290	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy, 125250 (3)
OPA1	605290	{Glaucoma, normal tension, susceptibility to}, 606657 (3)
OPA3	606580	3-methylglutaconic aciduria, type III, 258501 (3)
OPA3	606580	Optic atrophy 3 with cataract, 165300 (3)
OPCML	600632	{Ovarian cancer, somatic}, 167000 (3)
OPHN1	300127	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3)
OPLAH	614243	5-oxoprolinase deficiency, 260005 (3)
OPN1LW	300822	Blue cone monochromacy, 303700 (3)
OPN1LW	300822	Colorblindness, protan, 303900 (3)
OPN1MW	300821	Blue cone monochromacy, 303700 (3)
OPN1MW	300821	Colorblindness, deutan, 303800 (3)
OPN1SW	613522	Colorblindness, tritan, 190900 (3)
OPTN	602432	Amyotrophic lateral sclerosis 12, 613435 (3)
OPTN	602432	Glaucoma 1, open angle, E, 137760 (3)
OPTN	602432	{Glaucoma, normal tension, susceptibility to}, 606657 (3)
ORAI1	610277	Immune dysfunction with T-cell inactivation due to calcium entry defect 1, 612782 (3)
ORC1	601902	Meier-Gorlin syndrome 1, 224690 (3)
ORC4	603056	Meier-Gorlin syndrome 2, 613800 (3)
ORC6	607213	Meier-Gorlin syndrome 3, 613803 (3)
OSMR	601743	Amyloidosis, primary localized cutaneous, 1, 105250 (3)
OSTM1	607649	Osteopetrosis, autosomal recessive 5, 259720 (3)
OTC	300461	Ornithine transcarbamylase deficiency, 311250 (3)
OTOA	607038	Deafness, autosomal recessive 22, 607039 (3)
OTOF	603681	Auditory neuropathy, autosomal recessive, 1, 601071 (3)
OTOF	603681	Deafness, autosomal recessive 9, 601071 (3)
OTX2	600037	Microphthalmia, syndromic 5, 610125 (3)
OTX2	600037	Pituitary hormone deficiency, combined, 6, 613986 (3)
OTX2	600037	Retinal dystrophy, early-onset, and pituitary dysfunction, 610125 (3)
OXCT1	601424	Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)
P2RX1	600845	Bleeding disorder due to P2RX1 defect (3)
P2RY12	600515	Bleeding disorder, platelet-type, 8, 609821 (3)
PABPN1	602279	Oculopharyngeal muscular dystrophy, 164300 (3)
PADI4	605347	{Rheumatoid arthritis, susceptibility to}, 180300 (3)
PAFAH1B1	601545	Lissencephaly 1, 607432 (3)
PAFAH1B1	601545	Subcortical laminar heterotopia, 607432 (3)
PAH	612349	Phenylketonuria, 261600 (3)
PAH	612349	[Hyperphenylalaninemia, non-PKU mild], 261600 (3)
PAK3	300142	Mental retardation, X-linked 30/47, 300558 (3)
PALB2	610355	Fanconi anemia, complementation group N, 610832 (3)
PALB2	610355	{Breast cancer, susceptibility to}, 114480 (3)
PALB2	610355	{Pancreatic cancer, susceptibility to, 3}, 613348 (3)
PALLD	608092	{Pancreatic cancer, susceptibility to, 1}, 606856 (3)
PANK2	606157	HARP syndrome, 607236 (3)
PANK2	606157	Neurodegeneration with brain iron accumulation 1, 234200 (3)
PAPSS2	603005	SEMD, Pakistani type, 612847 (3)
PARK2	602544	Adenocarcinoma of lung, somatic, 211980 (3)
PARK2	602544	Adenocarcinoma, ovarian, somatic, 167000 (3)
PARK2	602544	Parkinson disease, juvenile, type 2, 600116 (3)
PARK2	602544	{Leprosy, susceptibility to}, 607572 (3)
PARK7	602533	Amyotrophic lateral sclerosis-Parkinsonism/dementia complex 2 (3)
PARK7	602533	Parkinson disease 7, autosomal recessive early-onset, 606324 (3)
PAX2	167409	Optic nerve coloboma with renal disease, 120330 (3)
PAX2	167409	Renal hypoplasia, isolated (3)
PAX3	606597	Craniofacial-deafness-hand syndrome, 122880 (3)
PAX3	606597	Rhabdomyosarcoma 2, alveolar, 268220 (3)
PAX3	606597	Waardenburg syndrome, type 1, 193500 (3)
PAX3	606597	Waardenburg syndrome, type 3, 148820 (3)
PAX4	167413	Diabetes mellitus, ketosis-prone, 612227 (3)
PAX4	167413	Diabetes mellitus, type 2, 125853 (3)
PAX4	167413	Maturity-onset diabetes of the young, type IX, 612225 (3)
PAX6	607108	Aniridia, 106210 (3)
PAX6	607108	Cataract with late-onset corneal dystrophy, 604219 (3)
PAX6	607108	Coloboma of optic nerve, 120430 (3)
PAX6	607108	Coloboma, ocular, 120200 (3)
PAX6	607108	Foveal hyperplasia, 136520 (3)
PAX6	607108	Gillespie syndrome, 206700 (3)
PAX6	607108	Keratitis, 148190 (3)
PAX6	607108	Morning glory disc anomaly, 120430 (3)
PAX6	607108	Optic nerve hypoplasia, 165550 (3)
PAX6	607108	Peters anomaly, 604229 (3)
PAX7	167410	Rhabdomyosarcoma 2, alveolar, 268220 (3)
PAX8	167415	Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 (3)
PAX9	167416	Tooth agenesis, selective, 3, 604625 (3)
PAXIP1	608254	{Alzheimer disease, susceptibility to}, 104300 (3)
PCBD1	126090	Hyperphenylalaninemia, BH4-deficient, D, 264070 (3)
PCCA	232000	Propionicacidemia, 606054 (3)
PCCB	232050	Propionicacidemia, 606054 (3)
PCDH15	605514	Deafness, autosomal recessive 23, 609533 (3)
PCDH15	605514	Usher syndrome, type 1D/F digenic, 601067 (3)
PCDH15	605514	Usher syndrome, type 1F, 602083 (3)
PCDH19	300460	Epileptic encephalopathy, early infantile, 9, 300088 (3)
PCM1	600299	Thyroid carcinoma, papillary, 188550 (3)
PCNT	605925	Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
PCSK1	162150	Obesity with impaired prohormone processing, 600955 (3)
PCSK1	162150	{Obesity, susceptibility to, BMIQ12}, 612362 (3)
PCSK9	607786	Hypercholesterolemia, familial, 3, 603776 (3)
PCSK9	607786	{Low density lipoprotein cholesterol level QTL 1}, 603776 (3)
PDCD1	600244	{Multiple sclerosis, disease progression, modifier of}, 126200 (3)
PDCD1	600244	{Systemic lupus erythematosus, susceptibility to, 2}, 605218 (3)
PDCD10	609118	Cerebral cavernous malformations 3, 603285 (3)
PDE11A	604961	Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
PDE4D	600129	{Stroke, susceptibility to, 1}, 606799 (3)
PDE6A	180071	Retinitis pigmentosa 43, 613810 (3)
PDE6B	180072	Night blindness, congenital stationary, autosomal dominant 2, 163500 (3)
PDE6B	180072	Retinitis pigmentosa-40, 613801 (3)
PDE6C	600827	Cone dystrophy 4, 613093 (3)
PDE6G	180073	Retinitis pigmentosa 57, 613582 (3)
PDE6H	601190	Retinal cone dystrophy 3, 610024 (3)
PDE8B	603390	Pigmented nodular adrenocortical disease, primary, 3, 614190 (3)
PDE8B	603390	Striatal degeneration, autosomal dominant, 609161 (3)
PDGFB	190040	Dermatofibrosarcoma protuberans (3)
PDGFB	190040	Giant-cell fibroblastoma (3)
PDGFB	190040	Meningioma, SIS-related (3)
PDGFRA	173490	Gastrointestinal stromal tumor, somatic, 606764 (3)
PDGFRA	173490	Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)
PDGFRB	173410	Myelomonocytic leukemia, chronic (3)
PDGFRB	173410	Myeloproliferative disorder with eosinophilia, 131440 (3)
PDGFRL	604584	Colorectal cancer, 114500 (3)
PDGFRL	604584	Hepatocellular cancer, 114550 (3)
PDHA1	300502	Leigh syndrome, X-linked, 308930 (3)
PDHA1	300502	Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3)
PDHB	179060	Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)
PDHX	608769	Lacticacidemia due to PDX1 deficiency, 245349 (3)
PDLIM4	603422	{Osteoporosis, susceptibility to}, 166710 (3)
PDP1	605993	Pyruvate dehydrogenase phosphatase deficiency, 608782 (3)
PDSS1	607429	Coenzyme Q10 deficiency, 607426 (3)
PDSS2	610564	Coenzyme Q10 deficiency, 607426 (3)
PDX1	600733	MODY, type IV, 606392 (3)
PDX1	600733	Pancreatic agenesis, 260370 (3)
PDX1	600733	{Diabetes mellitus, type II, susceptibility to}, 125853 (3)
PDYN	131340	Spinocerebellar ataxia 23, 610245 (3)
PDZD7	612971	Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3)
PDZD7	612971	{Retinal disease in Usher syndrome type IIA, modifier of}, 276901 (3)
PEPD	613230	Prolidase deficiency, 170100 (3)
PER2	603426	Advanced sleep phase syndrome, familial, 604348 (3)
PEX1	602136	Adrenoleukodystrophy, neonatal, 202370 (3)
PEX1	602136	Refsum disease, infantile, 266510 (3)
PEX1	602136	Zellweger syndrome-1, 214100 (3)
PEX10	602859	Adrenoleukodystrophy, neonatal, 202370 (3)
PEX10	602859	Zellweger syndrome, 214100 (3)
PEX12	601758	Peroxisome biogenesis factor 12 (3)
PEX13	601789	Adrenoleukodystrophy, neonatal, 202370 (3)
PEX13	601789	Zellweger syndrome, 214100 (3)
PEX14	601791	Zellweger syndrome, 214100 (3)
PEX16	603360	Zellweger syndrome, complementation group 9 (3)
PEX19	600279	Zellweger syndrome, 214100 (3)
PEX2	170993	Refsum disease, infantile, 266510 (3)
PEX2	170993	Zellweger syndrome-3 (3)
PEX26	608666	Adrenoleukodystrophy, neonatal, 202370 (3)
PEX26	608666	Refsum disease, infantile, 266510 (3)
PEX26	608666	Zellweger syndrome, 214100 (3)
PEX3	603164	Zellweger syndrome, complementation group G, 214100 (3)
PEX5	600414	Adrenoleukodystrophy, neonatal, 202370 (3)
PEX5	600414	Zellweger syndrome, 214100 (3)
PEX6	601498	Peroxisomal biogenesis disorder, complementation group 4 (3)
PEX6	601498	Peroxisomal biogenesis disorder, complementation group 6 (3)
PEX7	601757	Refsum disease, 266500 (3)
PEX7	601757	Rhizomelic chondrodysplasia punctata, type 1, 215100 (3)
PFKM	610681	Glycogen storage disease VII, 232800 (3)
PGAM2	612931	Glycogen storage disease X, 261670 (3)
PGK1	311800	Phosphoglycerate kinase 1 deficiency, 300653 (3)
PGM1	171900	Glycogen storage disease XIV, 612934 (3)
PHB	176705	{Breast cancer, susceptibility to}, 114480 (3)
PHEX	300550	Hypophosphatemic rickets, X-linked dominant, 307800 (3)
PHF11	607796	[IgE levels QTL], 147050 (3)
PHF11	607796	{Asthma}, 600807 (3)
PHF6	300414	Borjeson-Forssman-Lehmann syndrome, 301900 (3)
PHF8	300560	Mental retardation syndrome, X-linked, Siderius type, 300263 (3)
PHGDH	606879	Phosphoglycerate dehydrogenase deficiency, 601815 (3)
PHKA1	311870	Muscle glycogenosis, 300559 (3)
PHKA2	300798	Glycogen storage disease, type IXa1, 306000 (3)
PHKA2	300798	Glycogen storage disease, type IXa2, 306000 (3)
PHKB	172490	Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3)
PHKG2	172471	Cirrhosis due to liver phosphorylase kinase deficiency (3)
PHKG2	172471	Glycogen storage disease IXc, 613027 (3)
PHOX2A	602753	Fibrosis of extraocular muscles, congenital, 2, 602078 (3)
PHOX2B	603851	Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 (3)
PHOX2B	603851	Neuroblastoma with Hirschsprung disease, 613013 (3)
PHOX2B	603851	{Neuroblastoma, susceptibility to, 2}, 613013 (3)
PHYH	602026	Refsum disease, 266500 (3)
PICALM	603025	Leukemia, acute T-cell lymphoblastic (3)
PICALM	603025	Leukemia, acute myeloid, 601626 (3)
PIGA	311770	Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3)
PIGA	311770	Paroxysmal nocturnal hemoglobinuria, somatic, 300818 (3)
PIGM	610273	Glycosylphosphatidylinositol deficiency, 610293 (3)
PIGN	606097	Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)
PIGV	610274	Mabry syndrome, 239300 (3)
PIK3CA	171834	Breast cancer, somatic, 114480 (3)
PIK3CA	171834	Colorectal cancer, somatic, 114500 (3)
PIK3CA	171834	Gastric cancer, somatic, 137215 (3)
PIK3CA	171834	Hepatocellular carcinoma, somatic, 114550 (3)
PIK3CA	171834	Keratosis, seborrheic, somatic, 182000 (3)
PIK3CA	171834	Nevus, epidermal, 162900 (3)
PIK3CA	171834	Nonsmall cell lung cancer, somatic, 211980 (3)
PIK3CA	171834	Ovarian cancer, somatic, 167000 (3)
PIKFYVE	609414	Corneal fleck dystrophy, 121850 (3)
PINK1	608309	Parkinson disease 6, early onset, 605909 (3)
PIP5K1C	606102	Lethal congenital contractural syndrome 3, 611369 (3)
PITPNM3	608921	Cone-rod dystrophy 5, 600977 (3)
PITX1	602149	Clubfoot, congenital, 119800 (3)
PITX2	601542	Axenfeld-Rieger syndrome, type 1, 180500 (3)
PITX2	601542	Iridogoniodysgenesis, type 2, 137600 (3)
PITX2	601542	Peters anomaly, 604229 (3)
PITX2	601542	Ring dermoid of cornea, 180550 (3)
PITX3	602669	Anterior segment mesenchymal dysgenesis, 107250 (3)
PITX3	602669	Cataract, congenital (3)
PITX3	602669	Cataract, posterior polar, 4, 610623 (3)
PITX3	602669	Cataract, posterior polar, 4, syndromic, 610623 (3)
PKD1	601313	Polycystic kidney disease, adult type I, 173900 (3)
PKD2	173910	Polycystic kidney disease 2, 613095 (3)
PKHD1	606702	Polycystic kidney and hepatic disease, 263200 (3)
PKLR	609712	Adenosine triphosphate, elevated, of erythrocytes, 102900 (3)
PKLR	609712	Pyruvate kinase deficiency, 266200 (3)
PKP1	601975	Ectodermal dysplasia/skin fragility syndrome, 604536 (3)
PKP2	602861	Arrhythmogenic right ventricular dysplasia 9, 609040 (3)
PLA2G2A	172411	{Colorectal cancer}, 114500 (3)
PLA2G4A	600522	Phospholipase A2, group IV A, deficiency of (3)
PLA2G5	601192	Fleck retina, familial benign, 228980 (3)
PLA2G6	603604	Infantile neuroaxonal dystrophy 1, 256600 (3)
PLA2G6	603604	Karak syndrome, 610217 (3)
PLA2G6	603604	Neurodegeneration with brain iron accumulation 2B, 610217 (3)
PLA2G6	603604	Parkinson disease 14, 612953 (3)
PLA2G7	601690	Platelet-activating factor acetylhydrolase deficiency, 614278 (3)
PLA2G7	601690	{Asthma, susceptibility to}, 600807 (3)
PLA2G7	601690	{Atopy, susceptibility to}, 147050 (3)
PLAG1	603026	Adenomas, salivary gland pleomorphic, 181030 (3)
PLAU	191840	Quebec platelet disorder, 601709 (3)
PLAU	191840	{Alzheimer disease, late-onset, susceptibility to}, 104300 (3)
PLCB1	607120	Epileptic encephalopathy, early infantile, 12, 613722 (3)
PLCD1	602142	Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (3)
PLCE1	608414	Nephrotic syndrome, type 3, 610725 (3)
PLCG2	600220	Familial cold autoinflammatory syndrome 3, 614468 (3)
PLDN	604310	Hermansky-pudlak syndrome 9, 614171 (3)
PLEC	601282	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3)
PLEC	601282	Epidermolysis bullosa simplex, Ogna type, 131950 (3)
PLEC	601282	Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
PLEC	601282	Muscular dystrophy, limb-girdle, type 2Q, 613723 (3)
PLEKHG5	611101	Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3)
PLEKHM1	611466	Osteopetrosis, autosomal recessive 6, 611497 (3)
PLG	173350	Conjunctivitis, ligneous, 217090 (3)
PLG	173350	Plasminogen Tochigi disease (3)
PLIN1	170290	Lipodystrophy, familial partial, type 4, 613877 (3)
PLN	172405	Cardiomyopathy, dilated, 1P, 609909 (3)
PLN	172405	Cardiomyopathy, familial hypertrophic, 18, 613874 (3)
PLOD1	153454	Ehlers-Danlos syndrome, type VI, 225400 (3)
PLOD1	153454	Nevo syndrome, 601451 (3)
PLOD2	601865	Bruck syndrome 2, 609220 (3)
PLOD3	603066	Lysyl hydroxylase 3 deficiency, 612394 (3)
PLP1	300401	Pelizaeus-Merzbacher disease, 312080 (3)
PLP1	300401	Spastic paraplegia-2, 312920 (3)
PLTP	172425	[High density lipoprotein cholesterol level QTL 9] (3)
PML	102578	Leukemia, acute promyelocytic, PML/RARA type (3)
PMM2	601785	Congenital disorder of glycosylation, type Ia, 212065 (3)
PMP22	601097	Charcot-Marie-Tooth disease, type 1A, 118220 (3)
PMP22	601097	Charcot-Marie-Tooth disease, type 1E, 118300 (3)
PMP22	601097	Dejerine-Sottas disease, 145900 (3)
PMP22	601097	Neuropathy, recurrent, with pressure palsies, 162500 (3)
PMP22	601097	Roussy-Levy syndrome, 180800 (3)
PMS2	600259	Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
PMS2	600259	Mismatch repair cancer syndrome, 276300 (3)
PNKD	609023	Paroxysmal nonkinesigenic dyskinesia, 118800 (3)
PNKP	605610	Epileptic encephalopathy, early infantile, 10, 613402 (3)
PNP	164050	Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3)
PNPLA2	609059	Neutral lipid storage disease with myopathy, 610717 (3)
PNPLA6	603197	Spastic paraplegia 39, 612020 (3)
PNPO	603287	Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)
POF1B	300603	Premature ovarian failure 2B, 300604 (3)
POLG	174763	Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3)
POLG	174763	Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3)
POLG	174763	Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3)
POLG	174763	Progressive external ophthalmoplegia, autosomal dominant, 157640 (3)
POLG	174763	Progressive external ophthalmoplegia, autosomal recessive, 258450 (3)
POLG2	604983	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3)
POLH	603968	Xeroderma pigmentosum, variant type, 278750 (3)
POLR1C	610060	Treacher Collins syndrome 3, 248390 (3)
POLR1D	613715	Treacher Collins syndrome 2, 613717 (3)
POLR3A	614258	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3)
POLR3B	614366	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)
POMC	176830	Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3)
POMC	176830	{Obesity, early-onset, susceptibility to}, 601665 (3)
POMGNT1	606822	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)
POMGNT1	606822	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3)
POMGNT1	606822	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3)
POMP	613386	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3)
POMT1	607423	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)
POMT1	607423	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3)
POMT1	607423	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3)
POMT2	607439	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)
POMT2	607439	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3)
POMT2	607439	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3)
PON1	168820	{Coronary artery disease, susceptibility to} (3)
PON1	168820	{Coronary artery spasm 2, susceptibility to (3)
PON1	168820	{Microvascular complications of diabetes 5}, 612633 (3)
PON1	168820	{Organophosphate poisoning, sensitivity to} (3)
PON2	602447	{Coronary artery disease, susceptibility to} (3)
POR	124015	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)
POR	124015	Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3)
PORCN	300651	Focal dermal hypoplasia, 305600 (3)
POU1F1	173110	Pituitary hormone deficiency, combined, 1, 613038 (3)
POU3F4	300039	Deafness, X-linked 2, 304400 (3)
POU4F3	602460	Deafness, autosomal dominant 15, 602459 (3)
POU6F2	609062	{Wilms tumor susceptibility-5}, 601583 (3)
PPARA	170998	{Hyperapobetalipoproteinemia, susceptibility to} (3)
PPARG	601487	Carotid intimal medial thickness 1, 609338 (3)
PPARG	601487	Insulin resistance, severe, digenic, 604367 (3)
PPARG	601487	Lipodystrophy, familial partial, type 3, 604367 (3)
PPARG	601487	Obesity, severe, 601665 (3)
PPARG	601487	[Obesity, resistance to] (3)
PPARG	601487	{Diabetes, type 2}, 125853 (3)
PPARG	601487	{Glioblastoma, susceptibility to}, 137800 (3)
PPARGC1B	608886	{Obesity, variation in}, 601665 (3)
PPIB	123841	Osteogenesis imperfecta, type IX, 259440 (3)
PPM1D	605100	Breast cancer, 114480 (3)
PPOX	600923	Porphyria variegata, 176200 (3)
PPP1R17	604088	{Hypercholesterolemia, susceptibility to}, 143890 (3)
PPP1R3A	600917	Insulin resistance, severe, digenic, 604367 (3)
PPP2R1B	603113	Lung cancer, 211980 (3)
PPP2R2B	604325	Spinocerebellar ataxia 12, 604326 (3)
PPT1	600722	Ceroid lipofuscinosis, neuronal, 1, 256730 (3)
PQBP1	300463	Renpenning syndrome, 309500 (3)
PRCC	179755	Renal cell carcinoma, papillary, 605074 (3)
PRCD	610598	Retinitis pigmentosa 36, 610599 (3)
PRDM5	614161	Brittle cornea syndrome 2, 614170 (3)
PRF1	170280	Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)
PRF1	170280	Lymphoma, non-Hodgkin, 605027 (3)
PRG4	604283	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)
PRICKLE1	608500	Epilepsy, progressive myoclonic 1B, 612437 (3)
PRICKLE2	608501	Epilepsy, progressive myoclonic 5, 613832 (3)
PRKAG2	602743	Cardiomyopathy, familial hypertrophic 6, 600858 (3)
PRKAG2	602743	Glycogen storage disease of heart, lethal congenital, 261740 (3)
PRKAG2	602743	Wolff-Parkinson-White syndrome, 194200 (3)
PRKAR1A	188830	Acrodysostosis with hormone resistance, 101800 (3)
PRKAR1A	188830	Adrenocortical tumor, somatic, (3)
PRKAR1A	188830	Carney complex, type 1, 160980 (3)
PRKAR1A	188830	Myxoma, intracardiac, 255960 (3)
PRKAR1A	188830	Pigmented nodular adrenocortical disease, primary, 1, 610489 (3)
PRKAR1A	188830	Thyroid carcinoma, papillary, somatic, 188550 (3)
PRKCA	176960	Pituitary tumor, invasive (3)
PRKCG	176980	Spinocerebellar ataxia 14, 605361 (3)
PRKCH	605437	{Cerebral infarction, susceptibility to}, 601367 (3)
PRKCSH	177060	Polycystic liver disease, 174050 (3)
PRKRA	603424	Dystonia 16, 612067 (3)
PRNP	176640	Creutzfeldt-Jakob disease, 123400 (3)
PRNP	176640	Gerstmann-Straussler disease, 137440 (3)
PRNP	176640	Huntington disease-like 1, 603218 (3)
PRNP	176640	Insomnia, fatal familial, 600072 (3)
PRNP	176640	Prion disease with protracted course, 606688 (3)
PROC	612283	Thrombophilia due to protein C deficiency, autosomal dominant, 176860 (3)
PROC	612283	Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3)
PRODH	606810	Hyperprolinemia, type I, 239500 (3)
PRODH	606810	{Schizophrenia, susceptibility to, 4}, 600850 (3)
PROK2	607002	Hypogonadism, hypogonadotropic, 146110 (3)
PROK2	607002	Kallmann syndrome 4, 610628 (3)
PROKR2	607123	Kallmann syndrome 3, 244200 (3)
PROM1	604365	Cone-rod dystrophy 12, 612657 (3)
PROM1	604365	Macular dystrophy, retinal, 2, 608051 (3)
PROM1	604365	Retinitis pigmentosa 41, 612095 (3)
PROM1	604365	Stargardt disease 4, 603786 (3)
PROP1	601538	Pituitary hormone deficiency, combined, 2, 262600 (3)
PROS1	176880	Thrombophilia due to protein S deficiency, autosomal dominant, 612336 (3)
PROS1	176880	Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3)
PRPF3	607301	Retinitis pigmentosa 18, 601414 (3)
PRPF31	606419	Retinitis pigmentosa 11, 600138 (3)
PRPF6	613979	Retinitis pigmentosa 60, 613983 (3)
PRPF8	607300	Retinitis pigmentosa 13, 600059 (3)
PRPH	170710	{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
PRPH2	179605	Choriodal dystrophy, central areolar 2, 613105 (3)
PRPH2	179605	Foveomacular dystrophy, adult-onset, with choroidal neovascularization, 608161 (3)
PRPH2	179605	Macular dystrophy (3)
PRPH2	179605	Macular dystrophy, patterned, 169150 (3)
PRPH2	179605	Macular dystrophy, vitelliform, 608161 (3)
PRPH2	179605	Retinitis pigmentosa 7, 608133 (3)
PRPH2	179605	Retinitis pigmentosa, digenic, 608133 (3)
PRPH2	179605	Retinitis punctata albescens, 136880 (3)
PRPS1	311850	Arts syndrome, 301835 (3)
PRPS1	311850	Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 (3)
PRPS1	311850	Deafness, X-linked 1, 304500 (3)
PRPS1	311850	Gout, PRPS-related, 300661 (3)
PRPS1	311850	Phosphoribosylpyrophosphate synthetase superactivity, 300661 (3)
PRRT2	614386	Episodic kinesigenic dyskinesia 1, 128200 (3)
PRRX1	167420	Agnathia-otocephaly complex, 202650 (3)
PRSS1	276000	Pancreatitis, hereditary, 167800 (3)
PRSS12	606709	Mental retardation, autosomal recessive 1, 249500 (3)
PRSS2	601564	{Pancreatitis, chronic, protection against}, 167800 (3)
PRSS56	613858	Microphthalmia, isolated 6, 613517 (3)
PRX	605725	Charcot-Marie-Tooth disease, type 4F, 145900 (3)
PRX	605725	Dejerine-Sottas disease, autosomal recessive, 145900 (3)
PSAP	176801	Combined SAP deficiency, 611721 (3)
PSAP	176801	Gaucher disease, atypical, 610539 (3)
PSAP	176801	Krabbe disease, atypical, 611722 (3)
PSAP	176801	Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3)
PSAT1	610936	Phosphoserine aminotransferase deficiency, 610992 (3)
PSEN1	104311	Acne inversa, familial, 3, 613737 (3)
PSEN1	104311	Alzheimer disease, type 3, 607822 (3)
PSEN1	104311	Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 (3)
PSEN1	104311	Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 (3)
PSEN1	104311	Cardiomyopathy, dilated, 1U, 613694 (3)
PSEN1	104311	Dementia, frontotemporal, 600274 (3)
PSEN1	104311	Pick disease, 172700 (3)
PSEN2	600759	Alzheimer disease-4, 606889 (3)
PSEN2	600759	Cardiomyopathy, dilated, 1V, 613697 (3)
PSENEN	607632	Acne inversa, familial, 2, 613736 (3)
PSMA6	602855	{Myocardial infarcation, susceptibility to}, 608446 (3)
PSMB8	177046	Nakajo syndrome, 256040 (3)
PSMC3IP	608665	Ovarian dysgenesis 3, 614324 (3)
PSORS10	612410	{Psoriasis susceptibility 10} (3)
PSORS6	605364	{Psoriasis susceptibility 6} (3)
PSPH	172480	Phosphoserine phosphatase deficiency, 614023 (3)
PSTPIP1	606347	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 (3)
PTCH1	601309	Basal cell carcinoma, somatic, 605462 (3)
PTCH1	601309	Basal cell nevus syndrome, 109400 (3)
PTCH1	601309	Holoprosencephaly-7, 610828 (3)
PTCH2	603673	Basal cell carcinoma, somatic, 605462 (3)
PTCH2	603673	Medulloblastoma, 155255 (3)
PTEN	601728	Bannayan-Riley-Ruvalcaba syndrome, 153480 (3)
PTEN	601728	Cowden disease, 158350 (3)
PTEN	601728	Endometrial carcinoma, somatic, 608089 (3)
PTEN	601728	Lhermitte-Duclos syndrome, 158350 (3)
PTEN	601728	Macrocephaly/autism syndrome, 605309 (3)
PTEN	601728	Malignant melanoma, somatic, 155600 (3)
PTEN	601728	PTEN hamartoma tumor syndrome (3)
PTEN	601728	Squamous cell carcinoma, head and neck, somatic, 275355 (3)
PTEN	601728	Thyroid carcinoma, follicular, somatic, 188470 (3)
PTEN	601728	VATER association with macrocephaly and ventriculomegaly, 276950 (3)
PTEN	601728	{Glioma susceptibility 2}, 613028 (3)
PTEN	601728	{Meningioma}, 607174 (3)
PTEN	601728	{Prostate cancer, somatic}, 176807 (3)
PTF1A	607194	Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069 (3)
PTGDR	604687	{Asthma, susceptibility to, 1}, 607277 (3)
PTGER2	176804	{Asthma, aspirin-induced, susceptibility to}, 208550 (3)
PTGIS	601699	Hypertension, essential, 145500 (3)
PTH	168450	Hypoparathyroidism, autosomal dominant, 146200 (3)
PTH	168450	Hypoparathyroidism, autosomal recessive, 146200 (3)
PTH1R	168468	Chondrodysplasia, Blomstrand type, 215045 (3)
PTH1R	168468	Eiken syndrome, 600002 (3)
PTH1R	168468	Failure of tooth eruption, primary, 125350 (3)
PTH1R	168468	Metaphyseal chondrodysplasia, Murk Jansen type, 156400 (3)
PTHLH	168470	Brachydactyly, type E2, 613382 (3)
PTPN1	176885	{Insulin resistance, susceptibility to}, 125853 (3)
PTPN11	176876	LEOPARD syndrome 1, 151100 (3)
PTPN11	176876	Leukemia, juvenile myelomonocytic, 607785 (3)
PTPN11	176876	Metachondromatosis, 156250 (3)
PTPN11	176876	Noonan syndrome 1, 163950 (3)
PTPN12	600079	Colon cancer (3)
PTPN14	603155	Choanal atresia and lymphedema, 613611 (3)
PTPN22	600716	{Diabetes, type 1, susceptibility to}, 222100 (3)
PTPN22	600716	{Rheumatoid arthritis, susceptibility to}, 180300 (3)
PTPN22	600716	{Systemic lupus erythematosus susceptibility to}, 152700 (3)
PTPRC	151460	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3)
PTPRC	151460	{Hepatitic C virus, susceptibility to}, 609532 (3)
PTPRJ	600925	Colon cancer, somatic, 114500 (3)
PTPRO	600579	Nephrotic syndrome, type 6, 614196 (3)
PTPRQ	603317	Deafness, autosomal recessive 84, 613391 (3)
PTRF	603198	Lipodystrophy, congenital generalized, type 4, 613327 (3)
PTS	612719	Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)
PUS1	608109	Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3)
PVRL1	600644	Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3)
PVRL1	600644	Orofacial cleft 7, 225060 (3)
PVRL4	609607	Ectodermal dysplasia-syndactyly syndrome 1, 613573 (3)
PYCR1	179035	Cutis laxa, autosomal recessive, type IIB, 612940 (3)
PYCR1	179035	Cutis laxa, autosomal recessive, type IIIB, 614438 (3)
PYGL	613741	Glycogen storage disease VI, 232700 (3)
PYGM	608455	McArdle disease, 232600 (3)
PYY	600781	{Obesity}, 601665 (3)
QDPR	612676	Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)
RAB18	602207	Warburg micro syndrome 3, 614222 (3)
RAB23	606144	Carpenter syndrome, 201000 (3)
RAB27A	603868	Griscelli syndrome, type 2, 607624 (3)
RAB39B	300774	Mental retardation, X-linked 72, 300271 (3)
RAB3GAP1	602536	Warburg micro syndrome 1, 600118 (3)
RAB3GAP2	609275	Martsolf syndrome, 212720 (3)
RAB3GAP2	609275	Warburg micro syndrome 2, 614225 (3)
RAB7A	602298	Charcot-Marie-Tooth disease, type 2B, 600882 (3)
RAC2	602049	Neutrophil immunodeficiency syndrome, 608203 (3)
RAD50	604040	Nijmegen breakage syndrome-like disorder, 613078 (3)
RAD51	179617	Mirror movements 2, 614508 (3)
RAD51	179617	{Breast cancer, susceptibility to}, 114480 (3)
RAD51C	602774	Fanconi anemia, complementation group 0, 613390 (3)
RAD51C	602774	{Breast-ovarian cancer, familial, susceptibility to, 3}, 613399 (3)
RAD51D	602954	{Breast-ovarian cancer, familial, susceptibility to, 4}, 614291 (3)
RAD54B	604289	Colon adenocarcinoma (3)
RAD54B	604289	Lymphoma, non-Hodgkin (3)
RAD54L	603615	Adenocarcinoma, colonic, somatic (3)
RAD54L	603615	Lymphoma, non-Hodgkin, somatic, 605027 (3)
RAD54L	603615	{Breast cancer, invasive ductal}, 114480 (3)
RAF1	164760	LEOPARD syndrome 2, 611554 (3)
RAF1	164760	Noonan syndrome 5, 611553 (3)
RAG1	179615	Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3)
RAG1	179615	Combined cellular and humoral immune defects with granulomas, 233650 (3)
RAG1	179615	Omenn syndrome, 603554 (3)
RAG1	179615	Severe combined immunodeficiency, B cell-negative, 601457 (3)
RAG2	179616	Combined cellular and humoral immune defects with granulomas, 233650 (3)
RAG2	179616	Omenn syndrome, 603554 (3)
RAG2	179616	Severe combined immunodeficiency, B cell-negative, 601457 (3)
RAI1	607642	Smith-Magenis syndrome, 182290 (3)
RANBP2	601181	{Encephalopathy, acute, infection-induced, 3, susceptibility to}, 608033 (3)
RAP1GDS1	179502	Lymphocytic leukemia, acute T-cell (3)
RAPSN	601592	Fetal akinesia deformation sequence, 208150 (3)
RAPSN	601592	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931 (3)
RAPSN	601592	Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency, 608931 (3)
RARS2	611524	Pontocerebellar hypoplasia, type 6, 611523 (3)
RASA1	139150	Basal cell carcinoma, somatic, 605462 (3)
RASA1	139150	Capillary malformation-arteriovenous malformation, 608354 (3)
RASA1	139150	Parkes Weber slndrome, 608355 (3)
RAX	601881	Microphthalmia, isolated 3, 611038 (3)
RAX2	610362	Cone-rod dystrophy 11, 610381 (3)
RAX2	610362	Macular degeneration, age-related, 6, 613757 (3)
RB1	614041	Bladder cancer, somatic, 109800 (3)
RB1	614041	Osteosarcoma, somatic, 259500 (3)
RB1	614041	Retinoblastoma, 180200 (3)
RB1	614041	Retinoblastoma, trilateral, 180200 (3)
RB1	614041	Small cell cancer of the lung, somatic, 182280 (3)
RB1CC1	606837	Breast cancer, somatic, 114480 (3)
RBBP8	604124	Jawad syndrome, 251255 (3)
RBBP8	604124	Pancreatic carcinoma, somatic (3)
RBBP8	604124	Seckel syndrome 2, 606744 (3)
RBM10	300080	TARP syndrome, 311900 (3)
RBM20	613171	Cardiomyopathy, dilated, 1DD, 613172 (3)
RBM28	612074	Alopecia, neurologic defects, and endocrinopathy syndrome, 612079 (3)
RBP4	180250	Retinol binding protein, deficiency of (3)
RCBTB1	607867	[Beta-glycopyranoside tasting] (3)
RCBTB1	607867	{Alcohol dependence, susceptibility to}, 103780 (3)
RD3	180040	Leber congenital amaurosis 12, 610612 (3)
RDH12	608830	Leber congenital amaurosis 13, 612712 (3)
RDH5	601617	Fundus albipunctatus, 136880 (3)
RDX	179410	Deafness, autosomal recessive 24, 611022 (3)
RECQL4	603780	Baller-Gerold syndrome, 218600 (3)
RECQL4	603780	RAPADILINO syndrome, 266280 (3)
RECQL4	603780	Rothmund-Thomson syndrome, 268400 (3)
REEP1	609139	Spastic paraplegia 31, 610250 (3)
RELN	600514	Lissencephaly 2 (Norman-Roberts type), 257320 (3)
REN	179820	Hyperuricemic nephropathy, familial juvenile 2, 613092 (3)
REN	179820	Renal tubular dysgenesis, 267430 (3)
REN	179820	[Hyperproreninemia] (3)
RET	164761	Central hypoventilation syndrome, congenital, 209880 (3)
RET	164761	Medullary thyroid carcinoma, 155240 (3)
RET	164761	Multiple endocrine neoplasia IIA, 171400 (3)
RET	164761	Multiple endocrine neoplasia IIB, 162300 (3)
RET	164761	Pheochromocytoma, 171300 (3)
RET	164761	Renal agenesis, 191830 (3)
RET	164761	{Hirschsprung disease, susceptibility to, 1}, 142623 (3)
RETN	605565	{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
RETN	605565	{Hypertension, insulin resistance-related, susceptibility to}, 125853 (3)
RFT1	611908	Congenital disorder of glycosylation, type In, 612015 (3)
RFX5	601863	Bare lymphocyte syndrome, type II, complementation group C, 209920 (3)
RFX5	601863	Bare lymphocyte syndrome, type II, complementation group E, 209920 (3)
RFXANK	603200	MHC class II deficiency, complementation group B, 209920 (3)
RFXAP	601861	Bare lymphocyte syndrome, type II, complementation group D, 209920 (3)
RGR	600342	Retinitis pigmentosa 44, 613769 (3)
RGS9	604067	Bradyopsia, 608415 (3)
RGS9BP	607814	Bradyopsia, 608415 (3)
RHAG	180297	Anemia, hemolytic, Rh-null, regulator type, 268150 (3)
RHAG	180297	Rh-mod syndrome (3)
RHCE	111700	Rh-null disease, amorph type (3)
RHCE	111700	[Blood group, Rhesus] (3)
RHD	111680	[Rh-negative blood type] (3)
RHO	180380	Night blindness, congenital stationery, autosomal dominant 1, 610445 (3)
RHO	180380	Retinitis pigmentosa 4, autosomal dominant or recessive, 613731 (3)
RHO	180380	Retinitis punctata albescens, 136880 (3)
RIMS1	606629	Cone-rod dystrophy 7, 603649 (3)
RIN2	610222	Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)
RIPK4	605706	Popliteal pterygium syndrome, lethal type, 263650 (3)
RLBP1	180090	Bothnia retinal dystrophy, 607475 (3)
RLBP1	180090	Fundus albipunctatus, 136880 (3)
RLBP1	180090	Newfoundland rod-cone dystrophy, 607476 (3)
RLBP1	180090	Retinitis punctata albescens, 136880 (3)
RMRP	157660	Anauxetic dysplasia, 607095 (3)
RMRP	157660	Cartilage-hair hypoplasia, 250250 (3)
RMRP	157660	Metaphyseal dysplasia without hypotrichosis, 250460 (3)
RNASEH2A	606034	Aicardi-Goutieres syndrome 4, 610333 (3)
RNASEH2B	610326	Aicardi-Goutieres syndrome 2, 610181 (3)
RNASEH2C	610330	Aicardi-Goutieres syndrome 3, 610329 (3)
RNASEL	180435	Prostate cancer 1, 176807, 601518 (3)
RNASET2	612944	Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)
RNF135	611358	Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 (3)
RNF139	603046	Renal cell carcinoma, 144700 (3)
RNF168	612688	RIDDLE syndrome, 611943 (3)
RNF212	612041	Recombination rate QTL 1, 612042 (3)
RNF213	613768	{Moyamoya disease 2, susceptibility to}, 607151 (3)
RNF6	604242	Esophageal carcinoma, somatic, 133239 (3)
RNU4ATAC	601428	Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3)
ROBO2	602431	Vesicoureteral reflux 2, 610878 (3)
ROBO3	608630	Gaze palsy, horizontal, with progressive scoliosis, 607313 (3)
ROM1	180721	Retinitis pigmentosa 7, digenic (3)
ROR2	602337	Brachydactyly, type B1, 113000 (3)
ROR2	602337	Robinow syndrome, autosomal recessive, 268310 (3)
RP1	603937	Retinitis pigmentosa 1, 180100 (3)
RP1	603937	{Hypertriglyceridemia, susceptibility to}, 145750 (3)
RP1L1	608581	Occult macular dystrophy, 613587 (3)
RP2	300757	Retinitis pigmentosa 2, 312600 (3)
RP9	607331	Retinitis pigmentosa 9, 180104 (3)
RPE65	180069	Leber congenital amaurosis 2, 204100 (3)
RPE65	180069	Retinitis pigmentosa 20, 613794 (3)
RPGR	312610	Cone-rod dystrophy-1, 304020 (3)
RPGR	312610	Macular degeneration, X-linked atrophic, 300834 (3)
RPGR	312610	Retinitis pigmentosa 3, 300029 (3)
RPGR	312610	Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3)
RPGRIP1	605446	Cone-rod dystrophy 13, 608194 (3)
RPGRIP1	605446	Leber congenital amaurosis 6, 613826 (3)
RPGRIP1L	610937	COACH syndrome, 216360 (3)
RPGRIP1L	610937	Joubert syndrome 7, 611560 (3)
RPGRIP1L	610937	Meckel syndrome, type 5, 611561 (3)
RPIA	180430	Ribose 5-phosphate isomerase deficiency, 608611 (3)
RPL10	312173	{Autism, susceptibility to, X-linked 5}, 300847 (3)
RPL11	604175	Diamond-Blackfan anemia 7, 612562 (3)
RPL35A	180468	Diamond-Blackfan anemia 5, 612528 (3)
RPL5	603634	Diamond-Blackfan anemia 6, 612561 (3)
RPS10	603632	Diamond-Blackfan anemia 9, 613308 (3)
RPS14	130620	Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 (3)
RPS17	180472	Diamond-Blackfan anemia 4, 612527 (3)
RPS19	603474	Diamond-Blackfan anemia 1, 105650 (3)
RPS24	602412	Diamond-blackfan anemia 3, 610629 (3)
RPS26	603701	Diamond-Blackfan anemia 10, 613309 (3)
RPS6KA3	300075	Coffin-Lowry syndrome, 303600 (3)
RPS6KA3	300075	Mental retardation, X-linked 19, 300844 (3)
RPS7	603658	Diamond-Blackfan anemia 8, 612563 (3)
RRAS2	600098	Ovarian carcinoma (3)
RRM2B	604712	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)
RRM2B	604712	Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3)
RRM2B	604712	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5, 613077 (3)
RS1	300839	Retinoschisis, 312700 (3)
RSPH4A	612647	Ciliary dyskinesia, primary, 11, 612649 (3)
RSPH9	612648	Ciliary dyskinesia, primary, 12, 612650 (3)
RSPO1	609595	Palmoplantar hyperkeratosis and true hermaphroditism, 610644 (3)
RSPO1	609595	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644 (3)
RSPO4	610573	Anonychia congenita, 206800 (3)
RTN2	603183	Spastic paraplegia 12, autosomal dominant, 604805 (3)
RTN4R	605566	{Schizophrenia, susceptibility to}, 181500 (3)
RUNX1	151385	Leukemia, acute myeloid, 601626 (3)
RUNX1	151385	Platelet disorder, familial, with associated myeloid malignancy, 601399 (3)
RUNX2	600211	Cleidocranial dysplasia, 119600 (3)
RUNX2	600211	Dental anomalies, isolated (3)
RXFP2	606655	Cryptorchidism, bilateral, 219050 (3)
RYR1	180901	Central core disease, 117000 (3)
RYR1	180901	Minicore myopathy with external ophthalmoplegia, 255320 (3)
RYR1	180901	Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3)
RYR1	180901	{Malignant hyperthermia susceptibility 1}, 145600 (3)
RYR2	180902	Arrhythmogenic right ventricular dysplasia 2, 600996 (3)
RYR2	180902	Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)
SACS	604490	Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)
SAG	181031	Oguchi disease-1, 258100 (3)
SAG	181031	Retinitis pigmentosa 47, 613758 (3)
SALL1	602218	Townes-Brocks branchiootorenal-like syndrome, 107480 (3)
SALL1	602218	Townes-Brocks syndrome, 107480 (3)
SALL4	607343	Duane-radial ray syndrome, 607323 (3)
SALL4	607343	IVIC syndrome, 147750 (3)
SAMD9	610456	Tumoral calcinosis, familial, normophosphatemic, 610455 (3)
SAMHD1	606754	Aicardi-Goutieres syndrome 5, 612952 (3)
SAMHD1	606754	Chilblain lupus 2, 614415 (3)
SAR1B	607690	Chylomicron retention disease, 246700 (3)
SARS2	612804	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3)
SART3	611684	Porokeratosis, disseminated superficial actinic, 1, 175900 (3)
SAT1	313020	Keratosis follicularis spinulosa decalvans, 308800 (3)
SATB2	608148	Cleft palate and mental retardation, 119540 (3)
SBDS	607444	Shwachman-Bodian-Diamond syndrome, 260400 (3)
SBF2	607697	Charcot-Marie-Tooth disease, type 4B2, 604563 (3)
SC5DL	602286	Lathosterolosis, 607330 (3)
SCARB1	601040	[High density lipoprotien cholesterol level QTL6], 610762 (3)
SCARB2	602257	Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3)
SCARF2	613619	Van den Ende-Gupta syndrome, 600920 (3)
SCGB1A1	192020	{Asthma, susceptibility to}, 600807 (3)
SCGB3A2	606531	{Asthma, susceptibility to}, 600807 (3)
SCN1A	182389	Dravet syndrome, 607208 (3)
SCN1A	182389	Epilepsy, generalized, with febrile seizures plus, type 2, 604403 (3)
SCN1A	182389	Febrile seizures, familial, 3A, 604403 (3)
SCN1A	182389	Migraine, familial hemiplegic, 3, 609634 (3)
SCN1B	600235	Brugada syndrome 5, 612838 (3)
SCN1B	600235	Cardiac conduction defect, nonspecific, 612838 (3)
SCN1B	600235	Generalized epilepsy with febrile seizures plus, type 1, 604233 (3)
SCN2A	182390	Epileptic encephalopathy, early infantile, 11, 613721 (3)
SCN2A	182390	Seizures, benign familial infantile, 3, 607745 (3)
SCN3B	608214	Brugada syndrome 7, 613120 (3)
SCN4A	603967	Hyperkalemic periodic paralysis, type 2, 613345 (3)
SCN4A	603967	Myasthenic syndrome, acetazolamide-responsive, 614198 (3)
SCN4A	603967	Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3)
SCN4A	603967	Paramyotonia congenita, 168300 (3)
SCN4B	608256	Long QT syndrome-10, 611819 (3)
SCN5A	600163	Atrial fibrillation, familial, 10, 614022 (3)
SCN5A	600163	Brugada syndrome 1, 601144 (3)
SCN5A	600163	Cardiomyopathy, dilated, 1E, 601154 (3)
SCN5A	600163	Heart block, nonprogressive, 113900 (3)
SCN5A	600163	Heart block, progressive, type IA, 113900 (3)
SCN5A	600163	Long QT syndrome-3, 603830 (3)
SCN5A	600163	Sick sinus syndrome 1, 608567 (3)
SCN5A	600163	Ventricular fibrillation, familial, 1, 603829 (3)
SCN5A	600163	{Sudden infant death syndrome, susceptibility to}, 272120 (3)
SCN8A	600702	Cognitive impairment with or without cerebellar ataxia, 614306 (3)
SCN8A	600702	Epileptic encephalopathy, early infantile, 13, 614558 (3)
SCN9A	603415	Dravet syndrome, 607208 (3)
SCN9A	603415	Epilepsy, generalized, with febrile seizures plus, type 7, 613863 (3)
SCN9A	603415	Erythermalgia, primary, 133020 (3)
SCN9A	603415	Febrile seizures, familial, 3B, 613863 (3)
SCN9A	603415	Insensitivity to pain, channelopathy-associated, 243000 (3)
SCN9A	603415	Paroxysmal extreme pain disorder, 167400 (3)
SCN9A	603415	Small fiber neuropathy, 133020 (3)
SCNN1A	600228	Bronchiectasis with or without elevated sweat chloride 2, 613021 (3)
SCNN1A	600228	Pseudohypoaldosteronism, type I, 264350 (3)
SCNN1B	600760	Bronchiectasis with or without elevated sweat chloride 1, 211400 (3)
SCNN1B	600760	Liddle syndrome, 177200 (3)
SCNN1B	600760	Pseudohypoaldosteronism, type I, 264350 (3)
SCNN1G	600761	Bronchiectasis with or without elevated sweat chloride 3, 613071 (3)
SCNN1G	600761	Liddle syndrome, 177200 (3)
SCNN1G	600761	Pseudohypoaldosteronism, type I, 264350 (3)
SCO1	603644	Hepatic failure, early onset, and neurologic disorder (3)
SCO2	604272	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, 604377 (3)
SCP2	184755	Leukoencephalopathy with dystonia and motor neuropathy, 613724 (3)
SDC3	186357	{Obesity, association with}, 601665 (3)
SDHA	600857	Cardiomyopathy, dilated, 1GG, 613642 (3)
SDHA	600857	Leigh syndrome, 256000 (3)
SDHA	600857	Mitochondrial respiratory chain complex II deficiency, 252011 (3)
SDHA	600857	Paragangliomas 5, 614165 (3)
SDHAF1	612848	Mitochondrial complex II deficiency, 252011 (3)
SDHAF2	613019	Paragangliomas 2, 601650 (3)
SDHB	185470	Cowden-like syndrome, 612359 (3)
SDHB	185470	Gastrointestinal stromal tumor, 606764 (3)
SDHB	185470	Paraganglioma and gastric stromal sarcoma, 606864 (3)
SDHB	185470	Paragangliomas 4, 115310 (3)
SDHB	185470	Pheochromocytoma, 171300 (3)
SDHC	602413	Gastrointestinal stromal tumor, 606764 (3)
SDHC	602413	Paraganglioma and gastric stromal sarcoma, 606864 (3)
SDHC	602413	Paragangliomas 3, 605373 (3)
SDHD	602690	Carcinoid tumors, intestinal, 114900 (3)
SDHD	602690	Cowden-like syndrome, 612359 (3)
SDHD	602690	Merkel cell carcinoma, somatic (3)
SDHD	602690	Paraganglioma and gastric stromal sarcoma, 606864 (3)
SDHD	602690	Paragangliomas 1, with or without deafness, 168000 (3)
SDHD	602690	Pheochromocytoma, 171300 (3)
SEC23A	610511	Craniolenticulosutural dysplasia, 607812 (3)
SEC23B	610512	Anemia, dyserythropoietic congenital, type II, 224100 (3)
SEC63	608648	Polycystic liver disease, 174050 (3)
SECISBP2	607693	Thyroid hormone metabolism, abnormal, 609698 (3)
SELP	173610	{Atopy, susceptibility to}, 147050 (3)
SEMA3E	608166	CHARGE syndrome, 214800 (3)
SEMA4A	607292	Cone-rod dystrophy 10, 610283 (3)
SEMA4A	607292	Retinitis pigmentosa 35, 610282 (3)
SEMA7A	607961	[Blood group, John-Milton-Hagen] (3)
SEPN1	606210	Muscular dystrophy, rigid spine, 1, 602771 (3)
SEPN1	606210	Myopathy, congenital, with fiber-type disproportion, 255310 (3)
SEPSECS	613009	Pontocerebellar hypoplasia type 2D, 613811 (3)
SEPT9	604061	Amyotrophy, hereditary neuralgic, 162100 (3)
SERPINA1	107400	Emphysema due to AAT deficiency, 613490 (3)
SERPINA1	107400	Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)
SERPINA1	107400	Hemorrhagic diathesis due to \'antithrombin\' Pittsburgh, 613490 (3)
SERPINA10	605271	{Venous thrombosis, susceptibility to} (3)
SERPINA3	107280	Alpha-1-antichymotrypsin deficiency (3)
SERPINA3	107280	Cerebrovascular disease, occlusive (3)
SERPINA6	122500	Corticosteroid-binding globulin deficiency, 611489 (3)
SERPINA7	314200	Thyroxine-binding globulin deficiency (3)
SERPINB6	173321	Deafness, autosomal recessive 91, 613453 (3)
SERPINC1	107300	Thrombophilia due to antithrombin III deficiency, 613118 (3)
SERPIND1	142360	Thrombophilia due to heparin cofactor II deficiency, 612356 (3)
SERPINE1	173360	Plasminogen activator inhibitor-1 deficiency, 613329 (3)
SERPINE1	173360	{Transcription of plasminogen activator inhibitor, modulator of} (3)
SERPINF1	172860	Osteogenesis imperfecta, type VI, 613982 (3)
SERPINF2	613168	Alpha-2-plasmin inhibitor deficiency, 262850 (3)
SERPING1	606860	Angioedema, hereditary, types I and II, 106100 (3)
SERPING1	606860	Complement component 4, partial deficiency of, 120790 (3)
SERPINH1	600943	Osteogenesis imperfecta, type X, 613848 (3)
SERPINH1	600943	{Preterm premature rupture of the membranes, susceptibility to}, 610504 (3)
SERPINI1	602445	Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 (3)
SETBP1	611060	Schinzel-Giedion midface retraction syndrome, 269150 (3)
SETX	608465	Amyotrophic lateral sclerosis 4, juvenile, 602433 (3)
SETX	608465	Ataxia-ocular apraxia-2, 606002 (3)
SF3B1	605590	Myelodysplastic syndrome, somatic, 614286 (3)
SFTPA1	178630	{Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
SFTPA2	178642	Pulmonary fibrosis, idiopathic, 178500 (3)
SFTPB	178640	Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3)
SFTPC	178620	Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3)
SGCA	600119	Muscular dystrophy, limb-girdle, type 2D, 608099 (3)
SGCB	600900	Muscular dystrophy, limb-girdle, type 2E, 604286 (3)
SGCD	601411	Cardiomyopathy, dilated, 1L, 606685 (3)
SGCD	601411	Muscular dystrophy, limb-girdle, type 2F, 601287 (3)
SGCE	604149	Dystonia-11, myoclonic, 159900 (3)
SGCG	608896	Muscular dystrophy, limb-girdle, type 2C, 253700 (3)
SGSH	605270	Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3)
SH2B3	605093	Erythrocytosis, somatic, 133100 (3)
SH2B3	605093	Myelofibrosis, somatic, 254450 (3)
SH2B3	605093	Thrombocythemia, somatic, 187950 (3)
SH2D1A	300490	Lymphoproliferative syndrome, X-linked, 308240 (3)
SH3BP2	602104	Cherubism, 118400 (3)
SH3PXD2B	613293	Frank-ter Haar syndrome, 249420 (3)
SH3TC2	608206	Charcot-Marie-Tooth disease, type 4C, 601596 (3)
SH3TC2	608206	Mononeuropathy of the median nerve, mild, 613353 (3)
SHANK2	603290	{Autism susceptibility 17}, 613436 (3)
SHANK3	606230	Phelan-McDermid syndrome, 606232 (3)
SHANK3	606230	{Schizophrenia 15}, 613950 (3)
SHH	600725	Holoprosencephaly-3, 142945 (3)
SHH	600725	Microphthalmia with coloboma 5, 611638 (3)
SHH	600725	Schizencephaly, 269160 (3)
SHH	600725	Single median maxillary central incisor, 147250 (3)
SHOC2	602775	Noonan-like syndrome with loose anagen hair, 607721 (3)
SHOX	312865	Langer mesomelic dysplasia, 249700 (3)
SHOX	312865	Leri-Weill dyschondrosteosis, 127300 (3)
SHOX	312865	Short stature, idiopathic familial, 300582 (3)
SHOX	400020	Langer mesomelic dysplasia, 249700 (3)
SHOX	400020	Leri-Weill dyschondrosteosis, 127300 (3)
SHOX	400020	Short stature, idiopathic familial, 300582 (3)
SHROOM4	300579	Stocco dos Santos X-linked mental retardation syndrome, 300434 (3)
SIAE	610079	{Autoimmune disease, susceptibility to, 6}, 613551 (3)
SIGMAR1	601978	Amyotrophic lateral sclerosis 16, juvenile, 614373 (3)
SIL1	608005	Marinesco-Sjogren syndrome, 248800 (3)
SIM1	603128	Obesity, severe, 601665 (3)
SIX1	601205	Brachiootic syndrome 3, 608389 (3)
SIX1	601205	Deafness, autosomal dominant 23, 605192 (3)
SIX3	603714	Holoprosencephaly-2, 157170 (3)
SIX3	603714	Schizensephaly, 269160 (3)
SIX5	600963	Branchiootorenal syndrome 2, 610896 (3)
SIX6	606326	Microphthalmia with cataract 2, 212550 (3)
SLC10A2	601295	Bile acid malabsorption, primary, 613291 (3)
SLC11A1	600266	{Buruli ulcer, susceptibility to}, 610446 (3)
SLC11A1	600266	{Mycobacterium tuberculosis, susceptibility to infection by}, 607948 (3)
SLC11A2	600523	Anemia, hypochromic microcytic, 206100 (3)
SLC12A1	600839	Bartter syndrome, type 1, 601678 (3)
SLC12A3	600968	Gitelman syndrome, 263800 (3)
SLC12A6	604878	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
SLC14A1	613868	[Blood group, Kidd], 111000 (3)
SLC16A1	600682	Erythrocyte lactate transporter defect, 245340 (3)
SLC16A1	600682	Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3)
SLC16A12	611910	Cataract, juvenile, with microcornea and glucosuria, 612018 (3)
SLC16A2	300095	Allan-Herndon-Dudley syndrome, 300523 (3)
SLC17A3	611034	?Glycogen storage disease Ic, 232240 (3)
SLC17A5	604322	Salla disease, 604369 (3)
SLC17A5	604322	Sialic acid storage disorder, infantile, 269920 (3)
SLC17A8	607557	Deafness, autosomal dominant 25, 605583 (3)
SLC19A2	603941	Thiamine-responsive megaloblastic anemia syndrome, 249270 (3)
SLC19A3	606152	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3)
SLC1A3	600111	Episodic ataxia, type 6, 612656 (3)
SLC20A2	158378	Basal ganglia cancification, idiopathic, 3, 614540 (3)
SLC22A12	607096	Hypouricemia, renal, 220150 (3)
SLC22A18	602631	Breast cancer, somatic, 114480 (3)
SLC22A18	602631	Lung cancer, somatic, 211980 (3)
SLC22A18	602631	Rhabdomyosarcoma, somatic, 268210 (3)
SLC22A4	604190	{Rheumatoid arthritis, susceptibility to}, 180300 (3)
SLC22A5	603377	Carnitine deficiency, systemic primary, 212140 (3)
SLC24A1	603617	Night blindness, congenital stationary, type 1D, 613830 (3)
SLC24A4	609840	[Skin/hair/eye pigmentation 6, blond/brown hair], 210750 (3)
SLC24A4	609840	[Skin/hair/eye pigmentation 6, blue/green eyes], 210750 (3)
SLC24A5	609802	[Skin/hair/eye pigmentation 4, fair/dark skin], 113750 (3)
SLC25A12	603667	Hypomyelination, global cerebral, 612949 (3)
SLC25A13	603859	Citrullinemia, adult-onset type II, 603471 (3)
SLC25A13	603859	Citrullinemia, type II, neonatal-onset, 605814 (3)
SLC25A15	603861	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)
SLC25A19	606521	Microcephaly, Amish type, 607196 (3)
SLC25A19	606521	Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3)
SLC25A20	613698	Carnitine-acylcarnitine translocase deficiency, 212138 (3)
SLC25A22	609302	Epileptic encephalopathy, early infantile, 3, 609304 (3)
SLC25A3	600370	Micochondrial phosphate carrier deficiency, 610773 (3)
SLC25A38	610819	Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 (3)
SLC25A4	103220	Cardiomyopathy, familial hypertrophic, 192600 (3)
SLC25A4	103220	Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283 (3)
SLC26A2	606718	Achondrogenesis Ib, 600972 (3)
SLC26A2	606718	Atelosteogenesis II, 256050 (3)
SLC26A2	606718	De la Chapelle dysplasia, 256050 (3)
SLC26A2	606718	Diastrophic dysplasia, 222600 (3)
SLC26A2	606718	Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3)
SLC26A2	606718	Epiphyseal dysplasia, multiple, 4, 226900 (3)
SLC26A3	126650	Chloride diarrhea, congenital, Finnish type, 214700 (3)
SLC26A4	605646	Enlarged vestibular aqueduct, 600791 (3)
SLC26A4	605646	Pendred syndrome, 274600 (3)
SLC26A5	604943	Deafness, autosomal recessive 61, 613865 (3)
SLC27A4	604194	Ichthyosis prematurity syndrome, 608649 (3)
SLC29A3	612373	Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism, 612391 (3)
SLC29A3	612373	Pigmented hypertrophic dermatosis with insulin-dependent diabetes, 612391 (3)
SLC2A1	138140	GLUT1 deficiency syndrome 1, 606777 (3)
SLC2A1	138140	GLUT1 deficiency syndrome 2, 612126 (3)
SLC2A10	606145	Arterial tortuosity syndrome, 208050 (3)
SLC2A2	138160	Fanconi-Bickel syndrome, 227810 (3)
SLC2A2	138160	{Diabetes mellitus, noninsulin-dependent} (3)
SLC2A4	138190	{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
SLC2A9	606142	Hypouricemia, renal, 2, 612076 (3)
SLC2A9	606142	{Uric acid concentration, serum, QTL 2}, 612076 (3)
SLC30A8	611145	{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
SLC33A1	603690	Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3)
SLC33A1	603690	Spastic paraplegia-42, 612539 (3)
SLC34A1	182309	Fanconi renotubular syndrome 2, 613388 (3)
SLC34A1	182309	Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 (3)
SLC34A2	604217	?Testicular microlithiasis, 610441 (3)
SLC34A2	604217	Pulmonary alveolar microlithiasis, 265100 (3)
SLC34A3	609826	Hypophosphatemic rickets with hypercalciuria, 241530 (3)
SLC35A1	605634	Congenital disorder of glycosylation, type IIf, 603585 (3)
SLC35C1	605881	Congenital disorder of glycosylation, type IIc, 266265 (3)
SLC35D1	610804	Schneckenbecken dysplasia, 269250 (3)
SLC36A2	608331	Hyperglycinuria, 138500 (3)
SLC36A2	608331	Iminoglycinuria, digenic, 242600 (3)
SLC37A4	602671	Glycogen storage disease Ib, 232220 (3)
SLC37A4	602671	Glycogen storage disease Ic, 232240 (3)
SLC39A13	608735	Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350 (3)
SLC39A4	607059	Acrodermatitis enteropathica, 201100 (3)
SLC3A1	104614	Cystinuria, 220100 (3)
SLC40A1	604653	Hemochromatosis, type 4, 606069 (3)
SLC45A2	606202	Oculocutaneous albinism, type IV, 606574 (3)
SLC45A2	606202	[Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3)
SLC45A2	606202	[Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3)
SLC45A2	606202	[Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3)
SLC46A1	611672	Folate malabsorption, hereditary, 229050 (3)
SLC4A1	109270	Ovalocytosis (3)
SLC4A1	109270	Renal tubular acidosis, distal, AD, 179800 (3)
SLC4A1	109270	Renal tubular acidosis, distal, AR, 611590 (3)
SLC4A1	109270	Spherocytosis, type 4, 612653 (3)
SLC4A1	109270	[Blood group, Diego], 110500 (3)
SLC4A1	109270	[Blood group, Froese], 601551 (3)
SLC4A1	109270	[Blood group, Swann], 601550 (3)
SLC4A1	109270	[Blood group, Waldner], 112010 (3)
SLC4A1	109270	[Blood group, Wright], 112050 (3)
SLC4A1	109270	[Malaria, resistance to], 611162 (3)
SLC4A11	610206	Corneal dystrophy, Fuchs endothelial, 4, 613268 (3)
SLC4A11	610206	Corneal endothelial dystrophy 2, 217700 (3)
SLC4A11	610206	Corneal endothelial dystrophy and perceptive deafness, 217400 (3)
SLC4A4	603345	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
SLC52A3	613350	Brown-Vialetto-Van Laere syndrome, 211530 (3)
SLC52A3	613350	Fazio-Londe disease, 211500 (3)
SLC5A1	182380	Glucose/galactose malabsorption, 606824 (3)
SLC5A2	182381	Renal glucosuria, 233100 (3)
SLC5A5	601843	Thyroid dyshormonogenesis 1, 274400 (3)
SLC6A14	300444	{Obesity, susceptibility to, BMIQ11}, 300306 (3)
SLC6A19	608893	Hartnup disorder, 234500 (3)
SLC6A19	608893	Hyperglycinuria, 138500 (3)
SLC6A19	608893	Iminoglycinuria, digenic, 242600 (3)
SLC6A2	163970	Orthostatic intolerance, 604715 (3)
SLC6A20	605616	Hyperglycinuria, 138500 (3)
SLC6A20	605616	Iminoglycinuria, digenic, 242600 (3)
SLC6A3	126455	Parkinsonism-dystonia, infantile, 613135 (3)
SLC6A3	126455	{Major affective disorder}, 125480 (3)
SLC6A3	126455	{Nicotine dependence, protection against}, 188890 (3)
SLC6A4	182138	{Anxiety-related personality traits}, 607834 (3)
SLC6A4	182138	{Obsessive-compulsive disorder}, 164230 (3)
SLC6A5	604159	Hyperekplexia, 149400 (3)
SLC6A8	300036	Creatine deficiency syndrome, X-linked, 300352 (3)
SLC7A7	603593	Lysinuric protein intolerance, 222700 (3)
SLC7A9	604144	Cystinuria, 220100 (3)
SLC9A3R1	604990	Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 (3)
SLC9A6	300231	Mental retardation, X-linked syndromic, Christianson type, 300243 (3)
SLC9A9	608396	{Autism susceptibility 16}, 613410 (3)
SLCO1B1	604843	Hyperbilirubinemia, Rotor type, digenic, 237450 (3)
SLCO1B3	605495	Hyperbilirubinemia, Rotor type, digenic, 237450 (3)
SLCO2A1	601460	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3)
SLITRK1	609678	Tourette syndrome, 137580 (3)
SLITRK1	609678	Trichotillomania, 613229 (3)
SLURP1	606119	Meleda disease, 248300 (3)
SLX4	613278	Fanconi anemia, complementation group P, 613951 (3)
SMAD3	603109	Loeys-Dietz syndrome, type 1C, 613795 (3)
SMAD4	600993	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3)
SMAD4	600993	Myhre syndrome, 139210 (3)
SMAD4	600993	Pancreatic cancer (3)
SMAD4	600993	Polyposis, juvenile intestinal, 174900 (3)
SMAD7	602932	{Colorectal cancer, susceptibility to, 3}, 612229 (3)
SMAD9	603295	Pulmonary hypertension, primary, 178600 (3)
SMARCA4	603254	Rhabdoid tumor predisposition syndrome 2, 613325 (3)
SMARCAD1	612761	Adermatoglyphia, 136000 (3)
SMARCAL1	606622	Schimke immunoosseous dysplasia, 242900 (3)
SMARCB1	601607	Rhabdoid predisposition syndrome 1, 609322 (3)
SMARCB1	601607	Rhabdoid tumors, somatic, 609322 (3)
SMC1A	300040	Cornelia de Lange syndrome 2, 300590 (3)
SMC3	606062	Cornelia de Lange syndrome 3, 610759 (3)
SMN1	600354	Spinal muscular atrophy-1, 253300 (3)
SMN1	600354	Spinal muscular atrophy-2, 253550 (3)
SMN1	600354	Spinal muscular atrophy-3, 253400 (3)
SMN1	600354	Spinal muscular atrophy-4, 271150 (3)
SMN2	601627	{Spinal muscular atrophy, type III, modifier of}, 253400 (3)
SMO	601500	Basal cell carcinoma, somatic (3)
SMOC1	608488	Microphthalmia with limb anomalies, 206920 (3)
SMOC2	607223	Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400 (3)
SMPD1	607608	Niemann-Pick disease, type A, 257200 (3)
SMPD1	607608	Niemann-Pick disease, type B, 607616 (3)
SMPX	300226	Deafness, X-linked 4, 300066 (3)
SMS	300105	Mental retardation, X-linked, Snyder-Robinson type, 309583 (3)
SNAI2	602150	Piebaldism, 172800 (3)
SNAI2	602150	Waardenburg syndrome, type 2D, 608890 (3)
SNAP29	604202	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)
SNCA	163890	Dementia, Lewy body, 127750 (3)
SNCA	163890	Parkinson disease 1, 168601 (3)
SNCA	163890	Parkinson disease 4, 605543 (3)
SNCB	602569	Dementia, Lewy body, 127750 (3)
SNIP1	608241	Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 (3)
SNRNP200	601664	Retinitis pigmentosa 33, 610359 (3)
SNRPN	182279	Prader-Willi syndrome, 176270 (3)
SNTA1	601017	Long QT syndrome 12, 612955 (3)
SOBP	613667	Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3)
SOD1	147450	Amyotrophic lateral sclerosis, due to SOD1 deficiency, 105400 (3)
SOD2	147460	{Microvascular complications of diabetes 6}, 612634 (3)
SOD3	185490	[Superoxide dismutase, elevated extracellular] (3)
SORL1	602005	{Alzheimer disease, pathogenesis, association with}, 104300 (3)
SORT1	602458	[Low density lipoprotein cholesterol level QTL6], 613589 (3)
SOS1	182530	Fibromatosis, gingival, 135300 (3)
SOS1	182530	Noonan syndrome 4, 610733 (3)
SOST	605740	Sclerosteosis, 269500 (3)
SOST	605740	Van Buchem disease, 239100 (3)
SOX10	602229	PCWH syndrome, 609136 (3)
SOX10	602229	Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3)
SOX10	602229	Waardenburg syndrome, type 4C, 613266 (3)
SOX17	610928	Vesicoureteral reflux 3, 613674 (3)
SOX18	601618	Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 (3)
SOX2	184429	Microphthalmia, syndromic 3, 206900 (3)
SOX2	184429	Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 (3)
SOX3	313430	Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 (3)
SOX3	313430	Panhypopituitarism, X-linked, 312000 (3)
SOX9	608160	Acampomelic campomelic dysplasia, 114290 (3)
SOX9	608160	Campomelic dysplasia with autosomal sex reversal, 114290 (3)
SOX9	608160	Campomelic dysplasia, 114290 (3)
SP110	604457	Hepatic venoocclusive disease with immunodeficiency, 235550 (3)
SP110	604457	{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
SP7	606633	Osteogenesis imperfecta, type XII, 613849 (3)
SPAST	604277	Spastic paraplegia-4, 182601 (3)
SPATA16	609856	Spermatogenic failure 6, 102530 (3)
SPATA7	609868	Leber congenital amaurosis 3, 604232 (3)
SPATA7	609868	Retinitis pigmentosa, juvenile, autosomal recessive, 268000 (3)
SPECC1L	614140	Facial clefting, oblique, 1, 600251 (3)
SPG11	610844	Spastic paraplegia-11, 604360 (3)
SPG20	607111	Troyer syndrome, 275900 (3)
SPG21	608181	Mast syndrome, 248900 (3)
SPG7	602783	Spastic paraplegia-7, 607259 (3)
SPINK1	167790	Pancreatitis, hereditary, 167800 (3)
SPINK1	167790	Tropical calcific pancreatitis, 608189 (3)
SPINK1	167790	{Fibrocalculous pancreatic diabetes, susceptibility to}, 608189 (3)
SPINK5	605010	Atopy, 147050 (3)
SPINK5	605010	Netherton syndrome, 256500 (3)
SPINT2	605124	Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3)
SPR	182125	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3)
SPRED1	609291	Legius syndrome, 611431 (3)
SPTA1	182860	Elliptocytosis-2, 130600 (3)
SPTA1	182860	Pyropoikilocytosis, 266140 (3)
SPTA1	182860	Spherocytosis, type 3, 270970 (3)
SPTAN1	182810	Epileptic encephalopathy, early infantile, 5, 613477 (3)
SPTB	182870	Anemia, neonatal hemolytic, fatal and near-fatal (3)
SPTB	182870	Elliptocytosis-3 (3)
SPTB	182870	Spherocytosis, type 2 (3)
SPTBN2	604985	Spinocerebellar ataxia 5, 600224 (3)
SPTLC1	605712	Neuropathy, hereditary sensory and autonomic, type IA, 162400 (3)
SPTLC2	605713	Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3)
SQSTM1	601530	Paget disease of bone, 602080 (3)
SRC	190090	Colon cancer, advanced (3)
SRCAP	611421	Floating-Harbor syndrome, 136140 (3)
SRD5A2	607306	Pseudovaginal perineoscrotal hypospadias, 264600 (3)
SRD5A3	611715	Congenital disorder of glycosylation, type Iq, 612379 (3)
SRD5A3	611715	Kahrizi syndrome, 612713 (3)
SRPX2	300642	Rolandic epilepsy, mental retardation, and speech dyspraxia, 300643 (3)
SRY	480000	46XX sex reversal 1, 400045 (3)
SRY	480000	46XY sex reversal 1, 400044 (3)
SSTR5	182455	Somatostatin analog, resistance to, 102200 (3)
SSX2	300192	Sarcoma, synovial (3)
ST14	606797	Ichthyosis with hypotrichosis, 610765 (3)
ST3GAL3	606494	Mental retardation, autosomal recessive 12, 611090 (3)
ST3GAL5	604402	Amish infantile epilepsy syndrome, 609056 (3)
STAR	600617	Lipoid adrenal hyperplasia, 201710 (3)
STAT1	600555	Candidiasis, familial, 7, 614162 (3)
STAT1	600555	Mycobacterial and viral infections, susceptibility to, autosomal recessive, 613796 (3)
STAT1	600555	Mycobacterial infection, atypical, familial disseminated, 209950 (3)
STAT3	102582	Hyper-IgE recurrent infection syndrome, 147060 (3)
STAT5B	604260	Growth hormone insensitivity with immunodeficiency, 245590 (3)
STAT5B	604260	Leukemia, acute promyelocytic, STAT5B/RARA type (3)
STIL	181590	Microcephaly, primary autosomal recessive, 7, 612703 (3)
STIM1	605921	Immune dysfunction, with T-cell inactivation due to calcium entry defect 2, 612783 (3)
STK11	602216	Melanoma, malignant sporadic (3)
STK11	602216	Pancreatic cancer, sporadic (3)
STK11	602216	Peutz-Jeghers syndrome, 175200 (3)
STK11	602216	Testicular tumor, sporadic, 273300 (3)
STOX1	609397	Preeclampsia/eclampsia 4, 609404 (3)
STRA6	610745	Microphthalmia, syndromic 9, 601186 (3)
STRADA	608626	Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3)
STRC	606440	Deafness, autosomal recessive 16, 603720 (3)
STS	300747	Ichthyosis, X-linked, 308100 (3)
STX11	605014	Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3)
STX16	603666	Pseudohypoparathyroidism, type IB, 603233 (3)
STXBP2	601717	Hemophagocytic lymphohistiocytosis, familial, 5 (3)
SUCLA2	603921	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria), 612073 (3)
SUCLG1	611224	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3)
SUFU	607035	Medulloblastoma, desmoplastic, 155255 (3)
SUMF1	607939	Multiple sulfatase deficiency, 272200 (3)
SUMO1	601912	Orofacial cleft 10, 613705 (3)
SUMO4	608829	{Diabetes mellitus, insulin-dependent, 5}, 600320 (3)
SUOX	606887	Sulfite oxidase deficiency, 272300 (3)
SURF1	185620	Leigh syndrome, due to COX deficiency, 256000 (3)
SYCP3	604759	Spermatogenic failure 4, 270960 (3)
SYCP3	604759	{Pregnancy loss, susceptibility to} (3)
SYN1	313440	Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)
SYN2	600755	{Schizophrenia, susceptibility to}, 181500 (3)
SYNE1	608441	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3)
SYNE1	608441	Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)
SYNE2	608442	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)
SYNGAP1	603384	Mental retardation, autosomal dominant 5, 612621 (3)
SYP	313475	Mental retardation, X-linked 96, 300802 (3)
SYT14	610949	Spinocerebellar ataxia, autosomal recessive 11, 614229 (3)
TAB2	605101	Congenital heart disease, nonsyndromic, 2, 612863 (3)
TAC3	162330	Hypogonadotropic hypogonadism, 146110 (3)
TACR3	162332	Hypogonadotropic hypogonadism, 146110 (3)
TACSTD2	137290	Corneal dystrophy, gelatinous drop-like, 204870 (3)
TAF1	313650	Dystonia-Parkinsonism, X-linked, 314250 (3)
TAL1	187040	Leukemia-1, T-cell acute lymphocytic (3)
TAL2	186855	Leukemia-2, T-cell acute lymphoblastic (3)
TALDO1	602063	Transaldolase deficiency, 606003 (3)
TAP1	170260	Bare lymphocyte syndrome, type I, 604571 (3)
TAP2	170261	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3)
TAP2	170261	Wegener-like granulomatosis (3)
TAPBP	601962	Bare lymphocyte syndrome, type I, 604571 (3)
TARDBP	605078	Amyotrophic lateral sclerosis 10, with or without FTD, 612069 (3)
TARDBP	605078	Frontotemporal lobar degeneration, TARDBP-related, 612069 (3)
TAS2R16	604867	{Alcohol dependence}, 103780 (3)
TAS2R38	607751	[Phenylthiocarbamide tasting], 171200 (3)
TAT	613018	Tyrosinemia, type II, 276600 (3)
TAZ	300394	Barth syndrome, 302060 (3)
TAZ	300394	Cardiomyopathy, dilated, 3A, 300069 (3)
TAZ	300394	Left ventricular noncompaction, X-linked, 300183 (3)
TBC1D24	613577	Myoclonic epilepsy, infantile, familial, 605021 (3)
TBCE	604934	Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 (3)
TBCE	604934	Kenny-Caffey syndrome-1, 244460 (3)
TBP	600075	Spinocerebellar ataxia 17, 607136 (3)
TBP	600075	{Parkinson disease, susceptibility to}, 168600 (3)
TBX1	602054	Conotruncal anomaly face syndrome, 217095 (3)
TBX1	602054	DiGeorge syndrome, 188400 (3)
TBX1	602054	Velocardiofacial syndrome, 192430 (3)
TBX15	604127	Cousin syndrome, 260660 (3)
TBX19	604614	Adrenocorticotropic hormone deficiency, 201400 (3)
TBX20	606061	Atrial septal defect 4, 611363 (3)
TBX21	604895	Asthma and nasal polyps, 208550 (3)
TBX21	604895	{Asthma, aspirin-induced, susceptibility to}, 208550 (3)
TBX22	300307	Cleft palate with ankyloglossia, 303400 (3)
TBX3	601621	Ulnar-mammary syndrome, 181450 (3)
TBX4	601719	Small patella syndrome, 147891 (3)
TBX5	601620	Holt-Oram syndrome, 142900 (3)
TBXA2R	188070	{Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3)
TBXAS1	274180	Ghosal hematodiaphyseal syndrome, 231095 (3)
TCAP	604488	Cardiomyopathy, dilated, 1N, 607487 (3)
TCAP	604488	Muscular dystrophy, limb-girdle, type 2G, 601954 (3)
TCF4	602272	Pitt-Hopkins syndrome, 610954 (3)
TCF7L2	602228	{Diabetes mellitus, type 2, susceptibility to}, 125853 (3)
TCIRG1	604592	Osteopetrosis, autosomal recessive 1, 259700 (3)
TCN2	613441	Transcobalamin II deficiency, 275350 (3)
TCOF1	606847	Treacher Collins syndrome 1, 154500 (3)
TCTN1	609863	Joubert syndrome 13, 614173 (3)
TCTN2	613846	Meckel syndrome, type 8, 613885 (3)
TDGF1	187395	Forebrain defects (3)
TDP1	607198	Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, 607250 (3)
TDRD7	611258	Cataract, autosomal recessive congenital 4, 613887 (3)
TEAD1	189967	Sveinsson choreoretinal atrophy, 108985 (3)
TECR	610057	Mental retardation, autosomal recessive 14, 614020 (3)
TECTA	602574	Deafness, autosomal dominant 8/12, 601543 (3)
TECTA	602574	Deafness, autosomal recessive 21, 603629 (3)
TEK	600221	Venous malformations, multiple cutaneous and mucosal, 600195 (3)
TERC	602322	Aplastic anemia, 609135 (3)
TERC	602322	Dyskeratosis congenita, autosomal dominant 1, 127550 (3)
TERC	602322	{Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
TERT	187270	Dyskeratosis congenita, autosomal dominant 2, 613989 (3)
TERT	187270	Dyskeratosis congenita, autosomal recessive 4, 613989 (3)
TERT	187270	{Aplastic anemia, susceptibility to}, 609135 (3)
TERT	187270	{Coronary artery disease, susceptiblity to} (3)
TERT	187270	{Pulmonary fibrosis,idiopathic, susceptibility to}, 178500 (3)
TET2	612839	Myelodysplastic syndrome, somatic, 614286 (3)
TFAP2A	107580	Branchiooculofacial syndrome, 113620 (3)
TFAP2B	601601	Char syndrome, 169100 (3)
TFE3	314310	Renal cell carcinoma, papillary, 1, 300854 (3)
TFR2	604720	Hemochromatosis, type 3, 604250 (3)
TGFB1	190180	Camurati-Engelmann disease, 131300 (3)
TGFB1	190180	{Cystic fibrosis lung disease, modifier of}, 219700 (3)
TGFB3	190230	Arrhythmogenic right ventricular dysplasia 1, 107970 (3)
TGFBI	601692	Corneal dystrophy, Avellino type, 607541 (3)
TGFBI	601692	Corneal dystrophy, Groenouw type I, 121900 (3)
TGFBI	601692	Corneal dystrophy, Reis-Bucklers type, 608470 (3)
TGFBI	601692	Corneal dystrophy, Thiel-Behnke type, 602082 (3)
TGFBI	601692	Corneal dystrophy, epithelial basement membrane, 121820 (3)
TGFBI	601692	Corneal dystrophy, lattice type I, 122200 (3)
TGFBI	601692	Corneal dystrophy, lattice type IIIA, 608471 (3)
TGFBR1	190181	Loeys-Dietz syndrome, type 1A, 609192 (3)
TGFBR1	190181	Loeys-Dietz syndrome, type 2A, 608967 (3)
TGFBR1	190181	{Multiple self-healing squamous epithelioma, susceptiblity to}, 132800 (3)
TGFBR2	190182	Colorectal cancer, hereditary nonpolyposis, type 6, 614331 (3)
TGFBR2	190182	Esophageal cancer, somatic, 133239 (3)
TGFBR2	190182	Loeys-Dietz syndrome, type 1B, 610168 (3)
TGFBR2	190182	Loeys-Dietz syndrome, type 2B, 610380 (3)
TGIF1	602630	Holoprosencephaly-4, 142946 (3)
TGM1	190195	Ichthyosiform erythroderma, congenital, 242100 (3)
TGM1	190195	Ichthyosis, lamellar, autosomal recessive, 242300 (3)
TGM1	190195	Self-healing collodion baby, 242300 (3)
TGM5	603805	Peeling skin syndrome, acral type, 609796 (3)
TGM6	613900	Spinocerebellar ataxia 35, 613908 (3)
THAP1	609520	Dystonia 6, torsion, 602629 (3)
THBD	188040	Thrombophilia due to thrombomodulin defect, 614486 (3)
THBD	188040	{Hemolytic uremic syndrome, atypical, susceptibility to, 6}, 612926 (3)
THBS2	188061	{Lumbar disc herniation, susceptibility to}, 603932 (3)
THPO	600044	Thrombocythemia 1, 187950 (3)
THRA	190120	Hypothyroidism, congenital, nongoitrous, 6, 614450 (3)
THRB	190160	Thyroid hormone resistance, 188570 (3)
THRB	190160	Thyroid hormone resistance, autosomal recessive, 274300 (3)
THRB	190160	Thyroid hormone resistance, selective pituitary, 145650 (3)
TIMM8A	300356	Deafness, X-linked 1, progressive (3)
TIMM8A	300356	Jensen syndrome, 311150 (3)
TIMM8A	300356	Mohr-Tranebjaerg syndrome, 304700 (3)
TIMP3	188826	Sorsby fundus dystrophy, 136900 (3)
TINF2	604319	Dyskeratosis congenita, autosomal dominant 3, 613990 (3)
TINF2	604319	Revesz syndrome, 268130 (3)
TIRAP	606252	{Bacteremia, protection against}, 614382 (3)
TIRAP	606252	{Malaria, protection against}, 611162 (3)
TIRAP	606252	{Pneumococcal disease, invasive, protection against}, 610799 (3)
TIRAP	606252	{Tuberculosis, protection against}, 607948 (3)
TJP2	607709	Hypercholanemia, familial, 607748 (3)
TK2	188250	Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3)
TLL1	606742	Atrial septal defect 6, 613087 (3)
TLR1	601194	{Leprosy, protection against}, 613223 (3)
TLR1	601194	{Leprosy, susceptibility to, 5}, 613223 (3)
TLR2	603028	{Colorectal cancer, susceptibility to}, 114500 (3)
TLR2	603028	{Leprosy, susceptibility to}, 246300 (3)
TLR3	603029	Herpes simplex encephalitis, susceptibility to, 2, 613002 (3)
TLR4	603030	Endotoxin hyporesponsiveness (3)
TLR4	603030	{Colorectal cancer, susceptibility to}, 114500 (3)
TLR4	603030	{Macular degeneration, age-related, 10}, 611488 (3)
TLR5	603031	{Legionaire disease, susceptibility to}, 608556 (3)
TLR5	603031	{Systemic lupus erythematosus, resistance to}, 601744 (3)
TMC1	606706	Deafness, autosomal dominant 36, 606705 (3)
TMC1	606706	Deafness, autosomal recessive 7, 600974 (3)
TMC6	605828	Epidermodysplasia verruciformis, 226400 (3)
TMC8	605829	Epidermodysplasia verruciformis, 226400 (3)
TMCO1	614123	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 614132 (3)
TMEM126A	612988	Optic atrophy-7, 612989 (3)
TMEM127	613403	{Pheochromocytoma, susceptibility to}, 171300 (3)
TMEM138	614459	Joubert syndrome 16, 614465 (3)
TMEM216	613277	Joubert syndrome 2, 608091 (3)
TMEM216	613277	Meckel syndrome, type 2, 603194 (3)
TMEM237	614423	Joubert syndrome 14, 614424 (3)
TMEM43	612048	Arrhythmogenic right ventricular dysplasia 5, 604400 (3)
TMEM67	609884	COACH syndrome, 216360 (3)
TMEM67	609884	Joubert syndrome 6, 610688 (3)
TMEM67	609884	Meckel syndrome, type 3, 607361 (3)
TMEM67	609884	Nephronophthisis 11, 613550 (3)
TMEM67	609884	{Bardet-Biedl syndrome 14, modifier of}, 209900 (3)
TMEM70	612418	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)
TMIE	607237	Deafness, autosomal recessive 6, 600971 (3)
TMPO	188380	Cardiomyopathy, dilated, 1T, 613740 (3)
TMPRSS15	606635	Enterokinase deficiency, 226200 (3)
TMPRSS3	605511	Deafness, autosomal recessive 10, congenital, 605316 (3)
TMPRSS3	605511	Deafness, autosomal recessive 8, childhood onset, 601072 (3)
TMPRSS6	609862	Iron-refractory iron deficiency anemia, 206200 (3)
TNF	191160	{Asthma, susceptibility to}, 600807 (3)
TNF	191160	{Dementia, vascular, susceptibility to} (3)
TNF	191160	{Malaria, cerebral, susceptibility to}, 611162 (3)
TNF	191160	{Migraine without aura, susceptibility to}, 157300 (3)
TNF	191160	{Septic shock, susceptibility to} (3)
TNFRSF10B	603612	Squamous cell carcinoma, head and neck, 275355 (3)
TNFRSF11A	603499	Osteolysis, familial expansile, 174810 (3)
TNFRSF11A	603499	Osteopetrosis, autosomal recessive 7, 612301 (3)
TNFRSF11A	603499	Paget disease of bone, 602080 (3)
TNFRSF11B	602643	Paget disease, juvenile, 239000 (3)
TNFRSF13B	604907	Immunodeficiency, common variable, 2, 240500 (3)
TNFRSF13B	604907	Immunoglobulin A deficiency 2, 609529 (3)
TNFRSF13C	606269	Immunodeficiency, common variable, 4, 613494 (3)
TNFRSF1A	191190	Periodic fever, familial, 142680 (3)
TNFSF11	602642	Osteopetrosis, autosomal recessive 2, 259710 (3)
TNFSF4	603594	{Myocardial infarction, susceptibility to}, 608446 (3)
TNNC1	191040	Cardiomyopathy, dilated, 1Z, 611879 (3)
TNNC1	191040	Cardiomyopathy, familial hypertrophic, 13, 613243 (3)
TNNI2	191043	Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3)
TNNI3	191044	Cardiomyopathy, dilated, 1FF, 613286 (3)
TNNI3	191044	Cardiomyopathy, dilated, 2A, 611880 (3)
TNNI3	191044	Cardiomyopathy, familial hypertrophic, 7, 613690 (3)
TNNI3	191044	Cardiomyopathy, familial restrictive, 115210 (3)
TNNT1	191041	Nemaline myopathy, Amish type, 605355 (3)
TNNT2	191045	Cardiomyopathy, dilated, 1D, 601494 (3)
TNNT2	191045	Cardiomyopathy, familial hypertrophic, 2, 115195 (3)
TNNT2	191045	Cardiomyopathy, familial restrictive, 3, 612422 (3)
TNNT2	191045	Left ventricular noncompaction 6, 601494 (3)
TNNT3	600692	Arthyrgryposis, distal, type 2B, 601680 (3)
TNXB	600985	Ehlers-Danlos syndrome, autosomal dominant, hypermobility type, 130020 (3)
TNXB	600985	Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency, 606408 (3)
TOP1	126420	DNA topoisomerase I, camptothecin-resistant (3)
TOP2A	126430	DNA topoisomerase II, resistance to inhibition of, by amsacrine (3)
TOPORS	609507	Retinitis pigmentosa 31, 609923 (3)
TOR1A	605204	Dystonia, early-onset atypical, with myoclonic features (3)
TOR1A	605204	Dystonia-1, torsion, 128100 (3)
TOR1A	605204	{Dystonia-1, modifier of} (3)
TP53	191170	Adrenal cortical carcinoma, 202300 (3)
TP53	191170	Breast cancer, 114480 (3)
TP53	191170	Choroid plexus papilloma, 260500 (3)
TP53	191170	Colorectal cancer, 114500 (3)
TP53	191170	Hepatocellular carcinoma, 114550 (3)
TP53	191170	Li-Fraumeni syndrome, 151623 (3)
TP53	191170	Li-Fraumeni-like syndrome, 151623 (3)
TP53	191170	Nasopharyngeal carcinoma, 607107 (3)
TP53	191170	Osteosarcoma, 259500 (3)
TP53	191170	Pancreatic cancer, 260350 (3)
TP63	603273	ADULT syndrome, 103285 (3)
TP63	603273	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292 (3)
TP63	603273	Hay-Wells syndrome, 106260 (3)
TP63	603273	Limb-mammary syndrome, 603543 (3)
TP63	603273	Orofacial cleft 8, 129400 (3)
TP63	603273	Rapp-Hodgkin syndrome, 129400 (3)
TP63	603273	Split-hand/foot malformation 4, 605289 (3)
TPCN2	612163	[Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3)
TPH2	607478	{Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)
TPH2	607478	{Unipolar depression, susceptibility to}, 608516 (3)
TPI1	190450	Hemolytic anemia due to triosephosphate isomerase deficiency (3)
TPK1	606370	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3)
TPM1	191010	Cardiomyopathy, dilated, 1Y, 611878 (3)
TPM1	191010	Cardiomyopathy, familial hypertrophic, 3, 115196 (3)
TPM2	190990	Arthrogryposis multiplex congenita, distal, type 1, 108120 (3)
TPM2	190990	Arthrogryposis, distal, type 2B, 601680 (3)
TPM2	190990	Nemaline myopathy, 609285 (3)
TPM3	191030	CAP myopathy, 609284 (3)
TPM3	191030	Myopathy, congenital, with fiber-type disproportion, 255310 (3)
TPM3	191030	Nemaline myopathy 1, autosomal dominant, 609284 (3)
TPMT	187680	6-mercaptopurine sensitivity, 610460 (3)
TPO	606765	Thyroid dyshormonogenesis 2A, 274500 (3)
TPP1	607998	Ceroid lipofuscinosis, neuronal, 2, 204500 (3)
TPRN	613354	Deafness, autosomal recessive 79, 613307 (3)
TRA@	186880	Leukemia/lymphoma, T-cell (3)
TRAF3IP2	607043	{Psoriasis susceptibility 13}, 614070 (3)
TRAPPC2	300202	Spondyloepiphyseal dysplasia tarda, 313400 (3)
TRAPPC9	611966	Mental retardation, autosomal recessive 13, 613192 (3)
TREM2	605086	Nasu-Hakola disease, 221770 (3)
TREX1	606609	Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)
TREX1	606609	Chilblain lupus, 610448 (3)
TREX1	606609	Vasculopathy, retinal, with cerebral leukodystrophy, 192315 (3)
TREX1	606609	{Systemic lupus erythematosus, susceptibility to}, 152700 (3)
TRHR	188545	Thyrotropin-releasing hormone resistance, generalized (3)
TRIM24	603406	Thyroid carcinoma, papillary, 188550 (3)
TRIM32	602290	Bardet-Biedl syndrome 11, 209900 (3)
TRIM32	602290	Muscular dystrophy, limb-girdle, type 2H, 254110 (3)
TRIM33	605769	Thyroid carcinoma, papillary, 188550 (3)
TRIM37	605073	Mulibrey nanism, 253250 (3)
TRIOBP	609761	Deafness, autosomal recessive 28, 609823 (3)
TRIP11	604505	Achondrogenesis, type IA, 200600 (3)
TRMU	610230	Liver failure, transient infantile, 613070 (3)
TRMU	610230	{Deafness, mitochondrial, modifier of}, 580000 (3)
TRPC6	603652	Glomerulosclerosis, focal segmental, 2, 603965 (3)
TRPM1	603576	Night blindness, congenital stationary, type 1C, 613216 (3)
TRPM4	606936	Progressive familial heart block, type IB, 604559 (3)
TRPM6	607009	Hypomagnesemia 1, intestinal, 602014 (3)
TRPM7	605692	{Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to}, 105500 (3)
TRPS1	604386	Trichorhinophalangeal syndrome, type I, 190350 (3)
TRPS1	604386	Trichorhinophalangeal syndrome, type III, 190351 (3)
TRPV4	605427	Brachyolmia type 3, 113500 (3)
TRPV4	605427	Hereditary motor and sensory neuropathy, type IIc, 606071 (3)
TRPV4	605427	Metatropic dysplasia, 156530 (3)
TRPV4	605427	Parastremmatic dwarfism, 168400 (3)
TRPV4	605427	SED, Maroteaux type, 184095 (3)
TRPV4	605427	Scapuloperoneal spinal muscular atrophy, 181405 (3)
TRPV4	605427	Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3)
TRPV4	605427	Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3)
TRPV4	605427	[Sodium serum level QTL 1], 613508 (3)
TSC1	605284	Focal cortical dysplasia, Taylor balloon cell type, 607341 (3)
TSC1	605284	Lymphangioleiomyomatosis, 606690 (3)
TSC1	605284	Tuberous sclerosis-1, 191100 (3)
TSC2	191092	Lymphangioleiomyomatosis, somatic, 606690 (3)
TSC2	191092	Tuberous sclerosis-2, 191100 (3)
TSEN2	608753	Pontocerebellar hypoplasia type 2B, 612389 (3)
TSEN34	608754	Pontocerebellar hypoplasia type 2C, 612390 (3)
TSEN54	608755	Pontocerebellar hypoplasia type 2A, 277470 (3)
TSEN54	608755	Pontocerebellar hypoplasia type 4, 225753 (3)
TSFM	604723	Combined oxidative phosphorylation deficiency 3, 610505 (3)
TSG101	601387	Breast cancer, somatic, 114480 (3)
TSHB	188540	Hypothryoidism, congenital, nongoitrous 4, 275100 (3)
TSHR	603372	Hyperthyroidism, familial gestational, 603373 (3)
TSHR	603372	Hyperthyroidism, nonautoimmune, 609152 (3)
TSHR	603372	Hypothyroidism, congenital, nongoitrous, 1 275200 (3)
TSHR	603372	Thyroid adenoma, hyperfunctioning, somatic (3)
TSHR	603372	Thyroid carcinoma with thyrotoxicosis (3)
TSHZ1	614427	Aural atresia, congenital, 607842 (3)
TSPAN12	613138	Exudative vitreoretinopathy 5, 613310 (3)
TSPAN7	300096	Mental retardation, X-linked 58, 300210 (3)
TSPYL1	604714	Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)
TTBK2	611695	Spinocerebellar ataxia 11, 604432 (3)
TTC19	613814	Mitochondrial complex III deficiency, 124000 (3)
TTC21B	612014	Asphyxiating thoracic dystrophy 4, 613819 (3)
TTC21B	612014	Nephronophthisis 12, 613820 (3)
TTC8	608132	Bardet-Biedl syndrome 8, 209900 (3)
TTC8	608132	Retinitis pigmentosa 51, 613464 (3)
TTN	188840	Cardiomyopathy, dilated, 1G, 604145 (3)
TTN	188840	Cardiomyopathy, familial hypertrophic, 9, 613765 (3)
TTN	188840	Muscular dystrophy, limb-girdle, type 2J, 608807 (3)
TTN	188840	Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)
TTN	188840	Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)
TTN	188840	Tibial muscular dystrophy, tardive, 600334 (3)
TTPA	600415	Ataxia with isolated vitamin E deficiency, 277460 (3)
TTR	176300	Amyloidosis, hereditary, transthyretin-related, 105210 (3)
TTR	176300	Carpal tunnel syndrome, familial, 115430 (3)
TTR	176300	[Dystransthyretinemic hyperthyroxinemia], 145680 (3)
TUBA1A	602529	Lissencephaly 3, 611603 (3)
TUBA8	605742	Polymicrogyria with optic nerve hypoplasia, 613180 (3)
TUBB1	612901	Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3)
TUBB2B	612850	Polymicrogyria, asymmetric, 610031 (3)
TUBB3	602661	Cortical dysplasia, complex, with other brain malformations, 614039 (3)
TUBB3	602661	Fibrosis of extraocular muscles, congenital, 3A, 600638 (3)
TUFM	602389	Combined oxidative phosphorylation deficiency 4, 610678 (3)
TULP1	602280	Leber congenital amaurosis 15, 613843 (3)
TULP1	602280	Retinitis pigmentosa 14, 600132 (3)
TUSC3	601385	Mental retardation, autosomal recessive 7, 611093 (3)
TWIST1	601622	Craniosynostosis, type 1, 123100 (3)
TWIST1	601622	Saethre-Chotzen syndrome with eyelid anomalies, 101400 (3)
TWIST1	601622	Saethre-Chotzen syndrome, 101400 (3)
TXNDC3	607421	Ciliary dyskinesia, primary, 6, 610852 (3)
TYK2	176941	Tyrosine kinase 2 deficiency, 611521 (3)
TYMP	131222	Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
TYR	606933	Albinism, oculocutaneous, type IA, 203100 (3)
TYR	606933	Albinism, oculocutaneous, type IB, 606952 (3)
TYR	606933	Waardenburg syndrome/albinism, digenic, 103470 (3)
TYR	606933	[Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (3)
TYR	606933	[Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 (3)
TYR	606933	{Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 (3)
TYROBP	604142	Nasu-Hakola disease, 221770 (3)
TYRP1	115501	Albinism, oculocutaneous, type III, 203290 (3)
UBA1	314370	Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)
UBE2A	312180	Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3)
UBE3A	601623	Angelman syndrome, 105830 (3)
UBIAD1	611632	Corneal dystrophy, crystalline, of Schnyder, 121800 (3)
UBQLN2	300264	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 (3)
UBR1	605981	Johanson-Blizzard syndrome, 243800 (3)
UCHL1	191342	{Parkinson disease 5, susceptibility to}, 613643 (3)
UCP1	113730	{Obesity, susceptibility to}, 601665 (3)
UCP2	601693	{Obesity, susceptibility to, BMIQ4}, 607447 (3)
UCP3	602044	{Obesity, severe, and type II diabetes}, 601665 (3)
UGT1A1	191740	Crigler-Najjar syndrome, type I, 218800 (3)
UGT1A1	191740	Crigler-Najjar syndrome, type II, 606785 (3)
UGT1A1	191740	Hyperbilirubinemia, familial transcient neonatal, 237900 (3)
UGT1A1	191740	[Bilirubin, serum level of, QTL1], 601816 (3)
UGT1A1	191740	[Gilbert syndrome], 143500 (3)
UMOD	191845	Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 (3)
UMOD	191845	Hyperuricemic nephropathy, familial juvenile 1, 162000 (3)
UMOD	191845	Medullary cystic kidney disease 2, 603860 (3)
UMPS	613891	Orotic aciduria, 258900 (3)
UNC119	604011	Cone-rod dystrophy (3)
UNC13D	608897	Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)
UNC93B1	608204	Herpes simplex encephalitis, susceptibility to, 1, 610551 (3)
UNG	191525	Immunodeficiency with hyper IgM, type 4, 608106 (3)
UPB1	606673	Beta-ureidopropionase deficiency, 613161 (3)
UPF3B	300298	Mental retardation, X-linked, syndromic 14, 300676 (3)
UPK3A	611559	Renal adysplasia, 191830 (3)
UPK3A	611559	Urogenital adysplasia, 191830 (3)
UQCRB	191330	Mitochondrial complex III deficiency, 124000 (3)
UQCRQ	612080	Mitochondrial complex III deficiency, 124000 (3)
UROC1	613012	Urocanase deficiency, 276880 (3)
UROD	613521	Porphyria cutanea tarda, 176100 (3)
UROD	613521	Porphyria, hepatoerythropoietic, 176100 (3)
UROS	606938	Porphyria, congenital erythropoietic, 263700 (3)
USF1	191523	{Hyperlipidemia, familial combined, susceptibility to}, 602491 (3)
USH1C	605242	Deafness, autosomal recessive 18, 602092 (3)
USH1C	605242	Usher syndrome, type 1C, 276904 (3)
USH1G	607696	Usher syndrome, type 1G, 606943 (3)
USH2A	608400	Retinitis pigmentosa 39, 613809 (3)
USH2A	608400	Usher syndrome, type 2A, 276901 (3)
USP9Y	400005	Spermatogenic failure, Y-linked, 2, 415000 (3)
VANGL1	610132	Caudal regression syndrome, 600145 (3)
VANGL1	610132	Neural tube defects, 182940 (3)
VAPB	605704	Amyotrophic lateral sclerosis 8, 608627 (3)
VAPB	605704	Spinal muscular atrophy, late-onset, Finkel type, 182980 (3)
VCAN	118661	Wagner syndrome 1, 143200 (3)
VCL	193065	Cardiomyopathy, dilated, 1W, 611407 (3)
VCL	193065	Cardiomyopathy, familial hypertrophic, 15, 613255 (3)
VCP	601023	Amyotrophic lateral sclerosis 14 with or without frontotemporal dementia, 613954 (3)
VCP	601023	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia, 167320 (3)
VDR	601769	Rickets, vitamin D-resistant, type IIA, 277440 (3)
VEGFA	192240	{Microvascular complications of diabetes 1}, 603933 (3)
VHL	608537	Erythrocytosis, familial, 2, 263400 (3)
VHL	608537	Hemangioblastoma, cerebellar, somatic (3)
VHL	608537	Pheochromocytoma, 171300 (3)
VHL	608537	Renal cell carcinoma, somatic, 144700 (3)
VHL	608537	von Hippel-Lindau syndrome, 193300 (3)
VIM	193060	Cataract, pulverulent, autosomal dominant (3)
VKORC1	608547	Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3)
VKORC1	608547	Warfarin resistance, 122700 (3)
VLDLR	192977	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)
VNN1	603570	[High density lipoprotein cholesterol level QTL 8] (3)
VPS13A	605978	Choreoacanthocytosis, 200150 (3)
VPS13B	607817	Cohen syndrome, 216550 (3)
VPS33B	608552	Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3)
VPS35	601501	Parkinson disease 17, 614203 (3)
VRK1	602168	Pontocerebellar hypoplasia type 1, 607596 (3)
VSX1	605020	Corneal dystrophy, hereditary polymorphous posterior, 122000 (3)
VSX1	605020	Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3)
VSX1	605020	Keratoconus 1, 148300 (3)
VSX2	142993	Microphthalmia with coloboma 3, 610092 (3)
VSX2	142993	Microphthalmia, isolated 2, 610093 (3)
VWF	613160	von Willebrand disease, type 1, 193400 (3)
VWF	613160	von Willebrand disease, type 2A, 2B, 2M, and 2N, 613554 (3)
VWF	613160	von Willibrand disease, type 3, 277480 (3)
WAS	300392	Neutropenia, severe congenital, X-linked, 300299 (3)
WAS	300392	Thrombocytopenia, X-linked, 313900 (3)
WAS	300392	Thrombocytopenia, X-linked, intermittent, 313900 (3)
WAS	300392	Wiskott-Aldrich syndrome, 301000 (3)
WDPCP	613580	Bardet-Biedl syndrome 15, 209900 (3)
WDR19	608151	Asphyxiating thoracic dystrophy 5, 614376 (3)
WDR19	608151	Cranioectodermal dysplasia 4, 614378 (3)
WDR19	608151	Nephronophthisis 13, 614377 (3)
WDR35	613602	Cranioectodermal dysplasia 2, 613610 (3)
WDR35	613602	Short rib-polydactyly syndrome, type V, 614091 (3)
WDR36	609669	Glaucoma 1, open angle, G, 609887 (3)
WDR62	613583	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)
WDR65	614259	van der Woude syndrome 2, 606713 (3)
WDR72	613214	Amelogenesis imperfecta, hypomaturation type, IIA3, 613211 (3)
WFS1	606201	Deafness, autosomal dominant 6/14/38, 600965 (3)
WFS1	606201	Wolfram syndrome, 222300 (3)
WFS1	606201	Wolfram-like syndrome, autosomal dominant, 614296 (3)
WFS1	606201	{Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3)
WHSC1L1	607083	Leukemia, acute myeloid, 601626 (3)
WIPF1	602357	Wiskott-Aldrich syndrome 2, 614493 (3)
WISP3	603400	Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3)
WISP3	603400	Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3)
WNK1	605232	Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
WNK1	605232	Pseudohypoaldosteronism, type IIC, 614492 (3)
WNK4	601844	Pseudohypoaldosteronism, type IIB, 614491 (3)
WNT10A	606268	Odontoonychodermal dysplasia, 257980 (3)
WNT10A	606268	Schopf-Schulz-Passarge syndrome, 224750 (3)
WNT10A	606268	Tooth agenesis, selective, 4, 150400 (3)
WNT10B	601906	Split-hand/foot malformation 6, 225300 (3)
WNT3	165330	Tetra-amelia, autosomal recessive, 273395 (3)
WNT4	603490	Mullerian aplasia and hyperandrogenism, 158330 (3)
WNT4	603490	SERKAL syndrome, 611812 (3)
WNT5A	164975	Robinow syndrome, autosomal dominant, 180700 (3)
WNT7A	601570	Fuhrmann syndrome, 228930 (3)
WNT7A	601570	Ulna and fibula, absence of, with sever limb deficiency, 276820 (3)
WRAP53	612661	Dyskeratosis congenita, autosomal recessive 3, 613988 (3)
WRN	604611	Werner syndrome, 277700 (3)
WT1	607102	Denys-Drash syndrome, 194080 (3)
WT1	607102	Frasier syndrome, 136680 (3)
WT1	607102	Meacham syndrome, 608978 (3)
WT1	607102	Mesothelioma, somatic, 156240 (3)
WT1	607102	Nephrotic syndrome, type 4, 256370 (3)
WT1	607102	Wilms tumor, type 1, 194070 (3)
WWC1	610533	[Memory, enhanced, association with] (3)
WWOX	605131	Esophageal squamous cell carcinoma, 133239 (3)
XBP1	194355	{Major affective disorder-7, susceptibility to}, 612371 (3)
XDH	607633	Xanthinuria, type I, 278300 (3)
XIAP	300079	Lymphoproliferative syndrome, X-linked, 2, 300635 (3)
XIST	314670	X-inactivation, familial skewed, 300087 (3)
XPA	611153	Xeroderma pigmentosum, group A, 278700 (3)
XPC	613208	Xeroderma pigmentosum, group C, 278720 (3)
XPNPEP2	300145	{Angioedema induced by ACE inhibitors, susceptibility to} (3)
XPNPEP3	613553	Nephronophthisis-like nephropathy 1, 613159 (3)
XRCC3	600675	{Breast cancer, susceptibility to}, 114480 (3)
XRCC3	600675	{Melanoma, cutaneous malignant, 6}, 613972 (3)
XYLT1	608124	{Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)
XYLT2	608125	{Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)
YARS	603623	Charcot-Marie-Tooth disease, dominant intermediate C, 608323 (3)
YARS2	610957	Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)
ZAP70	176947	Selective T-cell defect (3)
ZBTB16	176797	Leukemia, acute promyelocytic, PL2F/RARA type (3)
ZBTB16	176797	Skeletal defects, genital hypoplasia, and mental retardation, 612447 (3)
ZBTB24	614064	Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3)
ZDHHC15	300576	Mental retardation, X-linked 91, 300577 (3)
ZDHHC9	300646	Mental retardation, X-linked syndromic, Raymond type, 300799 (3)
ZEB1	189909	Corneal dystrophy, Fuchs endothelial, 6, 613270 (3)
ZEB1	189909	Corneal dystrophy, posterior polymorphous, 3, 609141 (3)
ZEB2	605802	Mowat-Wilson syndrome, 235730 (3)
ZFAT	610931	{Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)
ZFHX3	104155	{Prostate cancer, susceptibility to}, 176807 (3)
ZFP57	612192	Diabetes mellitus, transient neonatal, 1, 601410 (3)
ZFPM2	603693	Diaphragmatic hernia 3, 610187 (3)
ZFPM2	603693	Tetralogy of Fallot, 187500 (3)
ZFYVE26	612012	Spastic paraplegia 15, 270700 (3)
ZFYVE27	610243	Spastic paraplegia 33, 610244 (3)
ZIC2	603073	Holoprosencephaly-5, 609637 (3)
ZIC3	300265	Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3)
ZIC3	300265	Heterotaxy, visceral, 1, X-linked 306955 (3)
ZMPSTE24	606480	Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3)
ZMPSTE24	606480	Restrictive dermopathy, lethal, 275210 (3)
ZNF365	607818	{Nephrolithiasis, uric acid, susceptibility to}, 605990 (3)
ZNF41	314995	Mental retardation, X-linked 89, 300848 (3)
ZNF469	612078	Brittle cornea syndrome, 229200 (3)
ZNF513	613598	Retinitis pigmentosa 58, 613617 (3)
ZNF592	613624	Spinocerebellar ataxia, autosomal recessive 5, 606937 (3)
ZNF644	614159	Myopia 21, autosomal dominant, 614167 (3)
ZNF674	300573	Mental retardation, X-linked 92, 300851 (3)
ZNF711	314990	Mental retardation, X-linked 97, 300803 (3)
ZNF750	610226	Seborrhea-like dermatitis with psoriasiform elements, 610227 (3)
ZNF81	314998	Mental retardation, X-linked 45, 300498 (3)