17,20-lyase deficiency, isolated, 202110 (3) |CYP17A1, CYP17, P450C17|609300|10q24.3 17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3) |CYP17A1, CYP17, P450C17|609300|10q24.3 1p36 deletion syndrome (2) |SKI|164780|1p36.3 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, 300438 (3) |HADH2, ERAB|300256|Xp11.2 2-methylbutyrylglycinuria, 610006 (3) |ACADSB, SBCAD|600301|10q25-q26 3-M syndrome, 273750 (3) |CUL7|609577|6p21.1 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3) |MCCC1, MCCA|609010|3q25-q27 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3) |MCCC2, MCCB|609014|5q12-q13 3-beta-hydroxysteroid dehydrogenase, type II, deficiency (3) |HSD3B2|201810|1p13.1 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3) |HADHSC, SCHAD, HHF4|601609|4q22-q26 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3) |HIBCH|610690|2q32.2 3-methylglutaconic aciduria, type I, 250950 (3) |AUH|600529|Chr.9 3-methylglutaconic aciduria, type III, 258501 (3) |OPA3, MGA3|606580|19q13.2-q13.3 3-methylglutaconic aciduria, type V, 610198 (3) |DNAJC19, TIM14|608977|3q26.3 3q21q26 syndrome (1) |EVI1|165215|3q26 6-mercaptopurine sensitivity, 610460 (3) |TPMT|187680|6p22.3 ABCD syndrome, 600501 (3) |EDNRB, HSCR2, ABCDS|131244|13q22 ACAD9 deficiency, 611126 (3) |ACAD9|611103|3q26 ACAT2 deficiency (1) (?) |ACAT2|100678|6q25.3-q26 ACTH deficiency (1) |POMC|176830|2p23.3 ACTH deficiency, 201400 (2) |CRH|122560|8q13 ADULT syndrome, 103285 (3) |TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS, OFC8|603273|3q27 AGAT deficiency (3) |GATM, AGAT|602360|15q15.3 AICA-ribosiduria due to ATIC deficiency, 608688 (3) |ATIC, PURH, AICAR|601731|2q35 AIDS, rapid progression to, 609423 (3) |IFNG, IFG, IFI|147570|12q14 ARC syndrome, 208085 (3) |VPS33B|608552|15q26.1 Aarskog-Scott syndrome, 305400 (3) |FGD1, FGDY, AAS|300546|Xp11.21 Abdominal obesity-metabolic syndrome (2) |AOMS1, SYNX|605552|3q27 Abdominal obesity-metabolic syndrome (2) |AOMS2|605572|17p12 Abetalipoproteinemia, 200100 (3) |MTP|157147|4q22-q24 Acampomelic campomelic dysplasia, 114290 (3) |SOX9, CMD1, SRA1|608160|17q24.3-q25.1 Acatalasemia (3) |CAT|115500|11p13 Acetabular dysplasia (2) |ACTD|142700|13q22 Acetyl-CoA carboxylase deficiency (1) |ACACA, ACAC, ACC1|200350|17q21 Achalasia-addisonianism-alacrimia syndrome, 231550 (3) |AAAS, AAA|605378|12q13 Acheiropody, 200500 (3) |LMBR1, ACHP, C7orf2, PPD2|605522|7q36 Achondrogenesis Ib, 600972 (3) |SLC26A2, DTD, DTDST, D5S1708, EDM4|606718|5q32-q33.1 Achondrogenesis-hypochondrogenesis, type II, 200610 (3) |COL2A1|120140|12q13.11-q13.2 Achondroplasia, 100800 (3) |FGFR3, ACH|134934|4p16.3 Achromatopsia-1 (2) |ACHM1, RMCH1|603096|Chr.14 Achromatopsia-2, 216900 (3) |CNGA3, CNG3, ACHM2|600053|2q11 Achromatopsia-3, 262300 (3) |CNGB3, ACHM3|605080|8q21-q22 Achromatopsia-4 (3) |GNAT2, ACHM4|139340|1p13 Acid-labile subunit, deficiency of (3) |IGFALS, ALS|601489|16p13.3 Acrocallosal syndrome, 200990 (3) |GLI3, PAPA, PAPB, ACLS|165240|7p13 Acrocapitofemoral dysplasia, 607778 (3) |IHH, BDA1|600726|2q33-q35 Acrodermatitis enteropathica, 201100 (3) |SLC39A4, ZIP4|607059|8q24.3 Acrofacial dysostosis, Nager type (2) (?) |AFD1, AFDN|154400|9q32 Acrokeratosis verruciformis, 101900 (3) |ATP2A2, ATP2B, DAR|108740|12q23-q24.1 Acromegaloid features, overgrowth, cleft palate, and hernia (2) |AOCH|606049|Chr.11 Acromegaly, 102200 (3) |GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO|139320|20q13.2 Acromegaly, 102200 (3) |SSTR5|182455|16p13.3 Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3) |GDF5, CDMP1, SYNS2|601146|20q11.2 Acromesomelic dysplasia, Maroteaux type, 602875 (3) |NPR2, ANPRB, AMDM|108961|9p21-p12 Acropectoral syndrome (2) |ACRPS|605967|7q36 Acropectorovertebral dysplasia (2) |ACRPV|102510|2q36 Acute insulin response (2) |AIR|601676|1p31 Acyl-CoA dehydrogenase, long chain, deficiency of, 201460 (3) |ACADL, LCAD|609576|2q34-q35 Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3) |ACADM, MCAD|607008|1p31 Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3) |ACADS, SCAD|606885|12q22-qter Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3) |EGFR|131550|7p12.3-p12.1 Adenocarcinoma of lung, somatic, 211980 (3) |BRAF|164757|7q34 Adenocarcinoma of lung, somatic, 211980 (3) |ERBB2, NGL, NEU, HER2|164870|17q21.1 Adenocarcinoma of lung, somatic, 211980 (3) |PRKN, PARK2, PDJ, LPRS2|602544|6q25.2-q27 Adenocarcinoma, ovarian, somatic, 604370 (3) |PRKN, PARK2, PDJ, LPRS2|602544|6q25.2-q27 Adenoma, periampullary (3) |APC, GS, FPC, BTPS2|611731|5q21-q22 Adenomas, multiple colorectal, 608456 (3) |MUTYH, MYH|604933|1p34.3-p32.1 Adenomas, salivary gland pleomorphic, 181030 (3) |PLAG1, SGPA, PSA|603026|8q12 Adenomatous polyposis coli, 175100 (3) |APC, GS, FPC, BTPS2|611731|5q21-q22 Adenosine deaminase deficiency, partial, 102700 (3) |ADA|608958|20q13.11 Adenylosuccinase deficiency, 103050 (3) |ADSL|608222|22q13.1 Adhalinopathy, primary (1) |SGCA, ADL, DAG2, LGMD2D, DMDA2|600119|17q12-q21.33 Adiponectin deficiency (3) |APM1, GBP28|605441|3q27 Adrenal adenoma, somatic (3) |MEN1|131100|11q13 Adrenal cortical carcinoma, 202300 (3) |TP53, P53, LFS1|191170|17p13.1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3) |CYP11B1, P450C11, FHI|610613|8q21 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (3) |CYP21A2, CYP21, CA21H|201910|6p21.3 Adrenal hyperplasia, congenital, due to combined P450C17 and P450C21 deficiency, 201750 (3) |POR|124015|7q11.2 Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism, 300200 (3) |DAX1, AHC, AHX, NROB1|300473|Xp21.3-p21.2 Adrenal insufficiency, congenital with or without 46, XY sex reversal (3) |CYP11A, P450SCC|118485|15q23-q24 Adrenocortical carcinoma, hereditary, 202300 (2) |MTACR1, WT2|194071|11p15.5 Adrenocortical insufficiency without ovarian defect (3) |FTZF1, FTZ1, SF1|184757|9q33 Adrenocortical tumor, somatic (3) |PRKAR1A, TSE1, CNC1, CAR, PPNAD1|188830|17q23-q24 Adrenocorticotropic hormone deficiency, 201400 (3) |TBS19|604614|1q23-q24 Adrenoleukodystrophy, 300100 (3) |ABCD1, ALD, AMN|300371|Xq28 Adrenoleukodystrophy, neonatal, 202370 (3) |PEX1, ZWS1|602136|7q21-q22 Adrenoleukodystrophy, neonatal, 202370 (3) |PEX10, NALD|602859|Chr.1 Adrenoleukodystrophy, neonatal, 202370 (3) |PEX13, ZWS, NALD|601789|2p15 Adrenoleukodystrophy, neonatal, 202370 (3) |PEX26|608666|22q11.21 Adrenoleukodystrophy, neonatal, 202370 (3) |PEX5, PXR1, PTS1R|600414|12p13.3 Adrenomyeloneuropathy, 300100 (3) |ABCD1, ALD, AMN|300371|Xq28 Adult i phenotype with congenital cataract, 110800 (3) |GCNT2|600429|6p24-p23 Adult i phenotype without cataract, 110800 (3) |GCNT2|600429|6p24-p23 Advanced sleep phase syndrome, familial, 604348 (3) |PER2, FASPS, KIAA0347|603426|2q37.3 Afibrinogenemia, congenital, 202400 (3) |FGA|134820|4q28 Afibrinogenemia, congenital, 202400 (3) |FGB|134830|4q28 Agammaglobulinemia, 601495 (3) |IGHM, MU|147020|14q32.33 Agammaglobulinemia, autosomal recessive, 601495 (3) |IGLL1, IGO, IGL5, VPREB2|146770|22q11.21 Agammaglobulinemia, non-Bruton type, 601495 (3) |LRRC8, KIAA1437|608360|9q34.13 Agammaglobulinemia, type 1, X-linked (3) |BTK, AGMX1, IMD1, XLA, AT|300300|Xq21.3-q22 Agammaglobulinemia, type 2, X-linked (2) |AGMX2, XLA2, IMD6|300310|Xp22 Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3) |SLC12A6, KCC3A, KCC3B, KCC3, ACCPN|604878|15q13-q14 Aicardi syndrome (2) |AIC|304050|Xp22 Aicardi-Goutieres syndrome 1, 225750 (3) |TREX1, AGS1, AGS5, CRV, HERNS|606609|3p21.3-p21.2 Aicardi-Goutieres syndrome 2 (2) |AGS2|610181|13q14-q21 Aicardi-Goutieres syndrome 3, 610329 (3) |RNASEH2C, AYP1, FLJ20974|610330|11q13.2 Aicardi-Goutieres syndrome 4, 610333 (3) |RNASEH2A, RNHIA, AGS4|606034|19p13.13 Aicardi-Goutieres syndrome 5, 610905 (3) |TREX1, AGS1, AGS5, CRV, HERNS|606609|3p21.3-p21.2 Alagille syndrome 2, 610205 (3) |NOTCH2, AGS2|600275|1p13-p11 Alagille syndrome, 118450 (3) |JAG1, AGS, AHD|601920|20p12 Aland Island eye disease, 300600 (3) |CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2|300110|Xp11.23 Albinism, brown oculocutaneous, 203200 (3) |OCA2, P, PED, D15S12, BOCA, EYCL3, HCL3, SHEP1|611409|15q11.2-q12 Albinism, brown, 203290 (1) |TYRP1, CAS2, GP75|115501|9p23 Albinism, oculocutaneous, type IA, 203100 (3) |TYR, SHEP3|606933|11q14-q21 Albinism, oculocutaneous, type IB, 606952 (3) |TYR, SHEP3|606933|11q14-q21 Albinism, oculocutaneous, type II, 203200 (3) |OCA2, P, PED, D15S12, BOCA, EYCL3, HCL3, SHEP1|611409|15q11.2-q12 Albinism, rufous, 278400 (3) |TYRP1, CAS2, GP75|115501|9p23 Albinism-deafness syndrome (2) |ADFN, ALDS|300700|Xq26.3-q27.1 Albright hereditary osteodystrophy-2 (2) (?) |AHO2|103581|15q11-q13 Alcohol intolerance, acute (3) |ALDH2|100650|12q24.2 Aldolase A deficiency, 611881 (3) |ALDOA|103850|16p11.2 Aldosterone to renin ratio raised (3) |CYP11B2|124080|8q21 Aldosteronism, glucocorticoid-remediable, 103900 (3) |CYP11B1, P450C11, FHI|610613|8q21 Alexander disease, 203450 (3) |GFAP|137780|17q21 Alexander disease, 203450 (3) |NDUFV1, UQOR1|161015|11q13 Alkaptonuria, 203500 (3) |HGD, AKU|607474|3q21-q23 Allan-Herndon-Dudley syndrome, 300523 (3) |SLC16A2, DXS128, XPCT|300095|Xq13.2 Alopecia areata 1 (2) |AA1|104000|18p11.3-p11.2 Alopecia areata 2 (2) |AA2|610753|16q11-q22 Alopecia universalis, 203655 (3) |HR, AU|602302|8p21.2 Alopecia with mental retardation syndrome 1 (2) |APMR1|203650|3q26.3-q27.3 Alopecia with mental retardation syndrome 2 (2) |APMR2|610422|3q26.2-q26.31 Alpers syndrome, 203700 (3) |POLG, POLG1, POLGA, PEO, SANDO, SCAE|174763|15q25 Alpha-1-antichymotrypsin deficiency (3) |SERPINA3, AACT, ACT|107280|14q32.1 Alpha-ketoglutarate dehydrogenase deficiency (1) |OGDH|203740|7p14-p13 Alpha-methylacetoacetic aciduria, 203750 (3) |ACAT1|607809|11q22.3-q23.1 Alpha-methylacyl-CoA racemase deficiency (3) |AMACR|604489|5p13.2-q11.1 Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3) |ATRX, XH2, XNP, SHS, SFM1, MRXHF1|300032|Xq13 Alpha-thalassemia/mental retardation syndrome, 301040 (3) |ATRX, XH2, XNP, SHS, SFM1, MRXHF1|300032|Xq13 Alpha-thalassemia/mental retardation syndrome, type 1 (1) |HBHR, ATR1|141750|16pter-p13.3 Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3) |RAG1|179615|11p13 Alport syndrome, 301050 (3) |COL4A5, ATS, ASLN|303630|Xq22.3 Alport syndrome, autosomal recessive, 203780 (3) |COL4A3|120070|2q36-q37 Alport syndrome, autosomal recessive, 203780 (3) |COL4A4|120131|2q36-q37 Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis, 300194 (2) |AMMECR1|300195|Xq22.3 Alstrom syndrome, 203800 (3) |ALMS1, ALSS, KIAA0328|606844|2p13 Alternating hemiplegia of childhood, 104290 (3) |ATP1A2, FHM2, MHP2|182340|1q21-q23 Alveolar soft-part sarcoma, 606243 (3) |ASPSCR1, RCC17, ASPL, ASPS|606236|17q25 Alzheimer disease 6, 104300 (2) |AD6|605526|10q24 Alzheimer disease 8, 104300 (2) |AD8|607116|20p Alzheimer disease, type 3, 607822 (3) |PSEN1, AD3|104311|14q24.3 Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 (3) |PSEN1, AD3|104311|14q24.3 Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 (3) |PSEN1, AD3|104311|14q24.3 Alzheimer disease-1, APP-related (3) |APP, AAA, CVAP, AD1|104760|21q21 Alzheimer disease-10, 104300 (2) |AD10|609636|7q36 Alzheimer disease-11 (2) |AD11|609790|9p22.1 Alzheimer disease-2, 104310 (3) |APOE, AD2, LPG|107741|19q13.2 Alzheimer disease-4, 606889 (3) |PSEN2, AD4, STM2|600759|1q31-q42 Alzheimer disease-5, 104300 (2) |AD5|602096|12p11.23-q13.12 Alzheimer disease-7 (2) |AD7|606187|10p13 Amelogenesis imperfecta 2, hypoplastic local, 104500 (3) |ENAM, AIH2|606585|4q21 Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism, 104510 (3) |DLX3, TDO, AI4|600525|17q21.3-q22 Amelogenesis imperfecta, hypoplastic, and openbite malocclusion, 608563 (3) |ENAM, AIH2|606585|4q21 Amelogenesis imperfecta, hypoplastic/hypomaturation type, 301200 (3) |AMELX, AMG, AIH1, AMGX|300391|Xp22.3-p22.1 Amelogenesis imperfecta, pigmented hypomaturation type, 204700 (3) |KLK4, EMSP1, PRSS17|603767|19q13.4 Amelogenesis imperfecta, pigmented hypomaturation type, 204700 (3) |MMP20|604629|11q22.3-q23 Amelogenesis imperfecta, type 3, 130900 (3) |FAM83H, AI3|611927|8q24.3 Amelogenesis imperfecta, type III, hypocalcified (2) |AI3|130900|8q24.3 Amelogenesis imperfecta-3, hypoplastic type (2) (?) |AIH3|301201|Xq22-q28 Aminoacylase 1 deficiency, 609924 (3) |ACY1, ACY1D|104620|3p21.1 Amish infantile epilepsy syndrome, 609056 (3) |SIAT9, ST3GALV|604402|2p11.2 Amyloid neuropathy, familial, several allelic types (3) |TTR, PALB|176300|18q11.2-q12.1 Amyloidosis, 3 or more types (3) |APOA1|107680|11q23 Amyloidosis, Finnish type, 105120 (3) |GSN|137350|9q34 Amyloidosis, cerebroarterial, Dutch type (3) |APP, AAA, CVAP, AD1|104760|21q21 Amyloidosis, cerebroarterial, Iowa type, 605714 (3) |APP, AAA, CVAP, AD1|104760|21q21 Amyloidosis, hereditary renal, 105200 (3) |FGA|134820|4q28 Amyloidosis, primary localized cutaneous, 105250 (3) |OSMR, OSMRB|601743|5p13.1 Amyloidosis, renal, 105200 (3) |LYZ|153450|Chr.12 Amyloidosis, senile systemic (3) |TTR, PALB|176300|18q11.2-q12.1 Amyotrophic lateral sclerosis 3 (2) |ALS3|606640|18q21 Amyotrophic lateral sclerosis 4, juvenile, 602433 (3) |SETX, SCAR1, AOA2, ALS4|608465|9q34 Amyotrophic lateral sclerosis 6 (2) |ALS6|608030|16q12 Amyotrophic lateral sclerosis 7 (2) |ALS7|608031|20p13 Amyotrophic lateral sclerosis 8, 608627 (3) |VAPB, VAPC, ALS8|605704|20q13.3 Amyotrophic lateral sclerosis 9, 611895 (3) |ANG, RNASE5, ALS9|105850|14q11 Amyotrophic lateral sclerosis with frontotemporal dementia 1 (2) |ALSFTD1|105550|9q21-q22 Amyotrophic lateral sclerosis, CHMP2B-related (3) |CHMP2B, DMT1, VPS2B|609512|3p11.2 Amyotrophic lateral sclerosis, due to SOD1 deficiency, 105400 (3) |SOD1, ALS1|147450|21q22.1 Amyotrophic lateral sclerosis, juvenile, 205100 (3) |ALS2, ALSJ, PLSJ, IAHSP|606352|2q33 Amyotrophic lateral sclerosis-5, juvenile recessive (2) |ALS5|602099|15q15.1-q21.1 Amyotrophic lateral sclerosis-Parkinsonism/dementia complex 2 (3) |DJ1, PARK7|602533|1p36 Amyotrophy, hereditary neuralgic, 162100 (3) |SEPT9, MSF, MSF1, NAPB|604061|17q25 Anal canal carcinoma (2) (?) |ANC|105580|11q22-qter Analbuminemia (3) |ALB|103600|4q11-q13 Anauxetic dysplasia, 607095 (3) |RMRP, RMRPR, CHH|157660|9p21-p12 Anderson disease, 607689 (3) |SARA2, SAR1B, CMRD|607690|5q31.1 Androgen insensitivity, 300068 (3) |AR, DHTR, TFM, SBMA, KD, SMAX1|313700|Xq11-q12 Anemia, Diamond-Blackfan, 105650 (2) |DBA2|606129|8p23.3-p22 Anemia, Diamond-Blackfan, 105650 (3) |RPS19, DBA|603474|19q13.2 Anemia, congenital dyserythropoietic, type I, 224120 (3) |CDAN1, CDA1|607465|15q15 Anemia, hemolytic, Rh-null, regulator type, 268150 (3) |RHAG, RH50A|180297|6p21.1-p11 Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3) |NT5C3, UMPH1, PSN1|606224|7p15-p14 Anemia, hypochromic microcytic, 206100 (3) |NRAMP2|600523|12q13 Anemia, megaloblastic, due to DHFR deficiency (1) (?) |DHFR|126060|5q11.2-q13.2 Anemia, neonatal hemolytic, fatal and near-fatal (3) |SPTB|182870|14q22-q23.2 Anemia, sideroblastic, with ataxia, 301310 (3) |ABCB7, ABC7, ASAT|300135|Xq13.1-q13.3 Anemia, sideroblastic/hypochromic (3) |ALAS2, ANH1, ASB|301300|Xp11.21 Aneurysm, familial arterial (3) |COL3A1|120180|2q31 Aneurysm, intracranial berry, 1 (2) |ANIB1|105800|7q11.2 Aneurysm, intracranial berry, 2 (2) |ANIB2|608542|19q13 Aneurysm, intracranial berry, 3 (2) |ANIB3|609122|1p36.13-p34.3 Aneurysm, intracranial berry, 4 (2) |ANIB4|610213|5p15.2-p14.3 Aneurysm, intracranial berry, 5 (2) |ANIB5|610402|2p15-q14 Aneurysmal bone cysts (2) |ANBC|606179|16q22 Angelman syndrome, 105830 (3) |MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16|300005|Xq28 Angelman syndrome, 105830 (3) |UBE3A, ANCR|601623|15q11-q13 Angio serpiginosum (2) |AGSPX|300652|Xp11.3-q12 Angioedema, hereditary, 106100 (3) |C1NH, HAE1, HAE2, SERPING1|606860|11q11-q13.1 Angioedema, hereditary, type III, 610618 (3) |F12, HAF, HAE3|610619|5q33-qter Angiofibroma, somatic (3) |MEN1|131100|11q13 Angioneurotic edema, hereditary, X-linked (2) |HAEX, HAE3|300268|Chr.X Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3) |COL4A1|120130|13q34 Aniridia, type II, 106210 (3) |PAX6, AN2, MGDA|607108|11p13 Anisomastia (2) |ANMA|605746|16q13-q21 Anonychia congenita, 206800 (3) |RSPO4, CRISTIN4|610573|20p13 Anosmia, isolated congenital (2) |ANIC|107200|18p11.23-q12.2 Anterior segment anomalies and cataract (3) |EYA1, BOR|601653|8q13.3 Anterior segment mesenchymal dysgenesis (3) |FOXC1, FKHL7, FREAC3|601090|6p25 Anterior segment mesenchymal dysgenesis, 107250 (3) |FOXE3, FKHL12, ASMD|601094|1p32 Anterior segment mesenchymal dysgenesis, 107250 (3) |PITX3, CTPP4|602669|10q25 Antibody deficiency due to defect in CD19 (3) |CD19|107265|16p11.2 Antiepileptic drugs, response to (3) |SCN1A, GEFSP2, SMEI, FEB3|182389|2q24 Antithrombin III deficiency (3) |AT3|107300|1q23-q25 Antley-Bixler syndrome, 207410 ( |FGFR2, BEK, CFD1, JWS|176943|10q26 Antley-Bixler syndrome-like with disordered steroidogenesis, 201750 (3) |POR|124015|7q11.2 Anxiety-related personality traits, 607834 (3) |SLC6A4, HTT, OCD1|182138|17q11.1-q12 Aortic aneurysm, ascending, and dissection (3) |FBN1, MFS1, WMS|134797|15q21.1 Aortic aneurysm, familial thoracic 1 (2) |AAT1, FAA1|607086|11q23.3-q24 Aortic aneurysm, familial thoracic 2 (2) |AAT2, FAA2|607087|5q13-q14 Aortic aneurysm, familial thoracic 4, 132900 (3) |MYH11, AAT4, FAA4|160745|16p13.13-p13.12 Aortic valve disease, 109730 (3) |NOTCH1, TAN1|190198|9q34.3 Apert syndrome, 101200 (3) |FGFR2, BEK, CFD1, JWS|176943|10q26 Aphakia, congenital primary, 610256 (3) |FOXE3, FKHL12, ASMD|601094|1p32 Aplasia of lacrimal and salivary glands, 180920 (3) |FGF10|602115|5p13-p12 Aplastic anemia, 609135 (3) |IFNG, IFG, IFI|147570|12q14 Aplastic anemia, 609135 (3) |TERC, TRC3, TR|602322|3q21-q28 Apnea, postanesthetic (3) |BCHE, CHE1|177400|3q26.1-q26.2 ApoA-I and apoC-III deficiency, combined (3) |APOA1|107680|11q23 Apolipoprotein A-II deficiency (3) |APOA2|107670|1q21-q23 Apolipoprotein C3 deficiency (3) |APOC3|107720|11q23 Apparent mineralocorticoid excess, hypertension due to (3) |HSD11B2, HSD11K|218030|16q22 Argininemia, 207800 (3) |ARG1|608313|6q23 Argininosuccinic aciduria, 207900 (3) |ASL|608310|7cen-q11.2 Aromatase deficiency (3) |CYP19A1, CYP19, ARO|107910|15q21.1 Aromatase excess syndrome, 139300 (3) |CYP19A1, CYP19, ARO|107910|15q21.1 Aromatic L-amino acid decarboxylase deficiency, 608643 (3) |DDC|107930|7p11 Arrhythmogenic right ventricular dysplasia 1, 107970 (3) |TGFB3|190230|14q24 Arrhythmogenic right ventricular dysplasia 2, 600996 (3) |RYR2, VTSIP, ARVD2, ARVC2|180902|1q42.1-q43 Arrhythmogenic right ventricular dysplasia 5, 604400 (1) (?) |LAMR1, LAMBR|150370|3p21.3 Arrhythmogenic right ventricular dysplasia 8, 607450 (3) |DSP, KPPS2, PPKS2|125647|6p24 Arrhythmogenic right ventricular dysplasia, familial, 10, 610193 (3) |DSG2, ARVD10, ARVC10|125671|18q12.1-q12.2 Arrhythmogenic right ventricular dysplasia, familial, 11, 610476 (3) |DSC2, DSC3, ARVD11|125645|18q12.1 Arrhythmogenic right ventricular dysplasia, familial, 12, 611528 (3) |JUP, DP3, PDGB, ARVD12|173325|17q21 Arrhythmogenic right ventricular dysplasia, familial, 9, 609040 (3) |PKP2, ARVD9|602861|12p11 Arrhythmogenic right ventricular dysplasia-3 (2) |ARVD3|602086|14q12-q22 Arrhythmogenic right ventricular dysplasia-4 (2) |ARVD4|602087|2q32.1-q32.3 Arrhythmogenic right ventricular dysplasia-5 (2) |ARVD5, ARVC5|604400|3p23 Arrhythmogenic right ventricular dysplasia-6 (2) |ARVD6|604401|10p14-p12 Arrhythmogenic right ventricular dysplasia-7 (2) |ARVD7, ARVC7|609160|10q22.3 Arterial calcification, generalized, of infancy, 208000 (3) |ENPP1, PDNP1, NPPS, M6S1, PCA1|173335|6q22-q23 Arterial tortuosity syndrome, 208050 (3) |SLC2A10, GLUT10, ATS|606145|20q13.1 Arthrogryposis multiplex congenita, distal, type 1, 108120 (3) |TPM2, TMSB, AMCD1, DA1, DA2B|190990|9p13.2-p13.1 Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3) |TNNI2, AMCD2B, DA2B, FSSV|191043|11p15.5 Arthrogryposis multiplex congenita, neurogenic (2) |AMCN, AMCN1|208100|5q35 Arthrogryposis, X-linked (spinal muscular atrophy, infantile, X-linked) (2) |AMCX1, SMAX2|301830|Xp11.3-q11.2 Arthrogryposis, distal, type 2A, 193700 (3) |MYH3|160720|17p13.1 Arthrogryposis, distal, type 2B, 601680 (3) |MYH3|160720|17p13.1 Arthrogryposis, distal, type 2B, 601680 (3) |TPM2, TMSB, AMCD1, DA1, DA2B|190990|9p13.2-p13.1 Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3) |GLE1, GLE1L, LCCS, LCCS1|603371|9q34 Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3) |WISP3, PPAC, PPD|603400|6q22-q23 Arthyrgryposis, distal, type 2B, 601680 (3) |TNNT3, AMCD2B, DA2B, FSSV|600692|11p15.5 Arts syndrome (2) |ARTS|301835|Xq21.2-q24 Arts syndrome, 301835 (3) |PRPS1, CMTX5|311850|Xq22-q24 Aspartylglucosaminuria (3) |AGA|208400|4q32-q33 Asphyxiating thoracic dystrophy (2) |ATD|208500|15q13 Asphyxiating thoracic dystrophy 2, 611263 (3) |IFT80, KIAA1374, WDR56, ATD2|611177|3q24-q26 Asthma and nasal polyps, 208550 (3) |TBX21, TBET|604895|17q21.3 Ataxia with isolated vitamin E deficiency, 277460 (3) |TTPA, TTP1, AVED|600415|8q13.1-q13.3 Ataxia, cerebellar, Cayman type, 601238 (3) |ATCAY, CLAC, KIAA1872|608179|19p13.3 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3) |APTX, AOA, AOA1|606350|9p13.3 Ataxia, sensory, autosomal dominant (2) |SNAX1, ADSA|608984|8p12-q12.1 Ataxia, spastic 2, autosomal recessive (2) |SATX2|611302|17p13 Ataxia-ocular apraxia-2, 606002 (3) |SETX, SCAR1, AOA2, ALS4|608465|9q34 Ataxia-telangiectasia, 208900 (3) |ATM, ATA, AT1|607585|11q22.3 Ataxia-telangiectasia-like disorder, 604391 (3) |MRE11A, MRE11, ATLD|600814|11q21 Atelosteogenesis II, 256050 (3) |SLC26A2, DTD, DTDST, D5S1708, EDM4|606718|5q32-q33.1 Atelosteogenesis, type III, 108721 (3) |FLNB, SCT, AOI, LRS1|603381|3p14.3 Atelostogenesis, type I, 108720 (3) |FLNB, SCT, AOI, LRS1|603381|3p14.3 Athabaskan brainstem dysgenesis syndrome, 601536 (3) |HOXA1, HOX1F, BSAS|142955|7p15.3 Atopy, 147050 (3) |SPINK5, LEKTI|605010|5q32 Atransferrinemia, 209300 (3) |TF|190000|3q21 Atrial fibrillation, 608583 (3) |GJA5, CX40|121013|1q21.1 Atrial fibrillation, familial, 1 (2) |ATFB1|608583|10q22-q24 Atrial fibrillation, familial, 2 (2) |ATFB2|608988|6q14-q16 Atrial fibrillation, familial, 607554 (3) |KCNE2, MIRP1, LQT6|603796|21q22.1 Atrial fibrillation, familial, 607554 (3) |KCNQ1, KCNA9, LQT1, KVLQT1, ATFB1, SQT2|607542|11p15.5 Atrial septal defect 3 (3) |MYH6, ASD3, MYHCA|160710|14q12 Atrial septal defect 4, 611363 (3) |TBX20, ASD4|606061|7p15-p14 Atrial septal defect with atrioventricular conduction defects, 108900 (3) |NKX2E, CSX|600584|5q34 Atrial septal defect, secundum type (2) |ASD1|108800|6p21.3 Atrial septal defect-2, 607941 (3) |GATA4|600576|8p23.1-p22 Atrichia with papular lesions, 209500 (3) |HR, AU|602302|8p21.2 Atrioventricular block, idiopathic second-degree (3) |NKX2E, CSX|600584|5q34 Atrioventricular canal defect, 600309 (2) |AVSD1, AVCD|606215|1p31-p21 Atrioventricular septal defect, 600309 (3) |GJA1, CX43, ODDD, SDTY3, ODOD|121014|6q21-q23.2 Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3) |CRELD1, AVSD2|607170|3p25.3 Auditory neuropathy, autosomal dominant, 1 (2) |AUNA1|609129|13q14-q21 Aural atresia, congenital (2) |CAA|607842|18q22.3-q23 Autism, chromosome 22q13.3 deletion syndrome-related (3) |SHANK3, PSAP2, PROSAP2, KIAA1650|606230|22q13.3 Autoimmune lymphoproliferative syndrome type IV (3) |NRAS, ALPS4|164790|1p13.2 Autoimmune lymphoproliferative syndrome, type IA, 601859 (3) |TNFRSF6, APT1, FAS, CD95, ALPS1A|134637|10q24.1 Autoimmune lymphoproliferative syndrome, type II, 603909 (3) |CASP10, MCH4, ALPS2|601762|2q33-q34 Autoimmune lymphoproliferative syndrome, type IIB, 607271 (3) |CASP8, MCH5, ALPS2B|601763|2q33 Autoimmune polyglandular disease, type I, 240300 (3) |AIRE, APECED|607358|21q22.3 Autonomic nervous system dysfunction (3) |DRD4|126452|11p15.5 Axenfeld anomaly (3) |FOXC1, FKHL7, FREAC3|601090|6p25 Azoospermia due to perturbations of meiosis, 270960 (3) |SYCP3, SCP3, COR1|604759|12q23 Azoospermia, 415000 (3) |USP9Y, DFFRY|400005|Yq11.2 B-cell non-Hodgkin lymphoma, high-grade (3) |BCL7A, BCL7|601406|12q24.1 BCG and salmonella infection, disseminated, 209950 (1) |IL12B, NKSF2|161561|5q31.1-q33.1 BCG infection, generalized familial, 209950 (3) |IFNGR1|107470|6q23-q24 BRESHECK syndrome (2) |BRESEK|300404|Chr.X Baller-Gerold syndrome, 218600 (3) |RECQL4, RTS, RECQ4|603780|8q24.3 Bamforth-Lazarus syndrome, 241850 (3) |FOXE1, FKHL15, TITF2, TTF2|602617|9q22 Bannayan-Riley-Ruvalcaba syndrome, 153480 (3) |PTEN, MMAC1|601728|10q23.31 Bardet-Biedel syndrome 10, 209900 (3) |BBS10, C12orf58, FLJ23560|610148|12q21.2 Bardet-Biedl syndrome 1, 209900 (3) |BBS1|209901|11q13 Bardet-Biedl syndrome 1, modifier of, 209900 (3) |ARL6, BBS3|608845|3p12-q13 Bardet-Biedl syndrome 11, 209900 (3) |TRIM32, HT2A, LGMD2H, BBS11|602290|9q31-q34.1 Bardet-Biedl syndrome 12, 209900 (3) |BBS12, FLJ35630, C4orf24|610683|4q27 Bardet-Biedl syndrome 2, 209900 (3) |BBS2|606151|16q21 Bardet-Biedl syndrome 3, 209900 (3) |ARL6, BBS3|608845|3p12-q13 Bardet-Biedl syndrome 4, 209900 (3) |BBS4|600374|15q22.3-q23 Bardet-Biedl syndrome 5, 209900 (3) |BBS5|603650|2q31 Bardet-Biedl syndrome 6, 209900 (3) |MKKS, HMCS, KMS, MKS, BBS6|604896|20p12 Bardet-Biedl syndrome 7, 209900 (3) |BBS7|607590|4q27 Bardet-Biedl syndrome 8, 209900 (3) |TTC8, BBS8|608132|14q32.1 Bardet-Biedl syndrome 9, 209900 (3) |PTHB1, BBS9|607968|7p14 Bare lymphocyte syndrome, type I, 604571 (3) |TAP1, ABCB2, TAP1, RING4, PSF1|170260|6p21.3 Bare lymphocyte syndrome, type I, 604571 (3) |TAPBP, TPSN|601962|6p21.3 Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3) |TAP2, ABCB3, PSF2, RING11|170261|6p21.3 Bare lymphocyte syndrome, type II, complementation group A, 209920 (3) |MHC2TA, C2TA|600005|16p13 Bare lymphocyte syndrome, type II, complementation group C, 209920 (3) |RFX5|601863|1q21.1-q21.3 Bare lymphocyte syndrome, type II, complementation group D, 209920 (3) |RFXAP|601861|13q14 Bare lymphocyte syndrome, type II, complementation group E, 209920 (3) |RFX5|601863|1q21.1-q21.3 Bart-Pumphrey syndrome, 149200 (3) |GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID|121011|13q11-q12 Barth syndrome, 302060 (3) |TAZ, EFE2, BTHS, CMD3A, LVNCX|300394|Xq28 Bartter syndrome, type 1, 601678 (3) |SLC12A1, NKCC2|600839|15q15-q21.1 Bartter syndrome, type 2, 241200 (3) |KCNJ1, ROMK1|600359|11q24 Bartter syndrome, type 3, 607364 (3) |CLCNKB|602023|1p36 Bartter syndrome, type 4, 602522 (3) |BSND|606412|1p31 Bartter syndrome, type 4, digenic, 602522 (3) |CLCNKA|602024|1p36 Bartter syndrome, type 4, digenic, 602522 (3) |CLCNKB|602023|1p36 Basal cell carcinoma (2) (?) |MSSE, ESS1|132800|9q31 Basal cell carcinoma, somatic (3) |RASA1, GAP, CMAVM, PKWS|139150|5q13.3 Basal cell carcinoma, somatic (3) |SMOH, SMO|601500|7q31-q32 Basal cell carcinoma, somatic, 605462 (3) |PTCH1, NBCCS, BCNS, HPE7|601309|9q22.3 Basal cell carcinoma, somatic, 605462 (3) |PTCH2|603673|1p32 Basal cell nevus syndrome, 109400 (3) |PTCH1, NBCCS, BCNS, HPE7|601309|9q22.3 Basal ganglia calcification, idiopathic (2) |IBGC1|213600|14q Basal ganglia disease, adult-onset, 606159 (3) |FTL|134790|19q13.3-q13.4 Basal ganglia disease, biotin-responsive, 607483 (3) |SLC19A3|606152|2q36.3 Bazex syndrome (2) |BZX|301845|Xq24-q27 Beare-Stevenson cutis gyrata syndrome, 123790 (3) |FGFR2, BEK, CFD1, JWS|176943|10q26 Becker muscular dystrophy modifier, 310200 (3) |MYF6|159991|12q21 Becker muscular dystrophy, 300376 (3) |DMD, BMD, CMD3B|300377|Xp21.2 Beckwith-Wiedemann syndrome, 130650 (3) |CDKN1C, KIP2, BWS|600856|11p15.5 Beckwith-Wiedemann syndrome, 130650 (3) |H19, D11S813E, ASM1, BWS|103280|11p15.5 Beckwith-Wiedemann syndrome, 130650 (3) |KCNQ10T1, LIT1|604115|11p15.5 Beckwith-Wiedemann syndrome, 130650 (3) |NSD1, ARA267, STO|606681|5q35 Bernard-Soulier syndrome, type A, 231200 (3) |GP1BA|606672|17pter-p12 Bernard-Soulier syndrome, type B, 231200 (3) |GP1BB|138720|22q11.2 Bernard-Soulier syndrome, type C, 231200 (3) |GP9|173515|3q21 Bestrophinopathy, 611809 (3) |BEST1, VMD2, ARB|607854|11q13 Beta-2-adrenoreceptor agonist, reduced response to (3) |ADRB2|109690|5q32-q34 Beta-ureidopropionase deficiency (3) |UPB1, BUP1|606673|22q11.2 Bethlem myopathy, 158810 (3) |COL6A1, OPLL|120220|21q22.3 Bethlem myopathy, 158810 (3) |COL6A2|120240|21q22.3 Bethlem myopathy, 158810 (3) |COL6A3|120250|2q37 Bietti crystalline corneoretinal dystrophy, 210370 (3) |CYP4V2, BCD|608614|4q35.1 Bile acid malabsorption, primary (3) |SLC10A2, NTCP2|601295|13q33 Bile acid synthesis defect, congenital, 3 (3) |CYP7B1|603711|8q21.3 Biotinidase deficiency, 253260 (3) |BTD|609019|3p25 Bipolar affective disorder (2) |MAFD1, BPAD, MD1|125480|18p Birt-Hogg-Dube syndrome, 135150 (3) |FLCN, BHD|607273|17p11.2 Bjornstad syndrome, 262000 (3) |BCS1L, FLNMS, GRACILE, BJS, PTD|603647|2q33 Bladder cancer, 109800 (3) |FGFR3, ACH|134934|4p16.3 Bladder cancer, 109800 (3) |KRAS2, RASK2, NS3|190070|12p12.1 Bladder cancer, 109800 (3) |RB1|180200|13q14.1-q14.2 Blau syndrome, 186580 (3) |NOD2, CARD15, IBD1, CD, ACUG, PSORAS1|605956|16q12 Bleeding diathesis due to GNAQ deficiency (1) |GNAQ|600998|9q21 Bleeding disorder due to P2RX1 defect (3) |P2RX1, P2X1|600845|17p13.3 Bleeding disorder due to P2RY12 defect, 609821 (3) |P2RY12, P2Y12|600515|3q24-q25 Bleeding disorder due to defective thromboxane A2 receptor (3) |TBXA2R|188070|19p13.3 Bleeding disorder, east Texas type (2) |BDET|605913|1q23 Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 (3) |FOXL2, BPES, BPES1, PFRK, POF3|605597|3q23 Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100 (3) |FOXL2, BPES, BPES1, PFRK, POF3|605597|3q23 Bloom syndrome, 210900 (3) |RECQL3, RECQ2, BLM, BS|604610|15q26.1 Blue-cone monochromacy, 303700 (3) |OPN1LW, RCP, CBP, CBBM|303900|Xq28 Blue-cone monochromacy, 303700 (3) |OPN1MW, GCP, CBD, CBBM|303800|Xq28 Boomerang dysplasia, 112310 (3) |FLNB, SCT, AOI, LRS1|603381|3p14.3 Borjeson-Forssman-Lehmann syndrome, 301900 (3) |PHF6, BFLS|300414|Xq26.3 Bornholm eye disease (2) |MYP1, BED|310460|Xq28 Bosley-Salih-Alorainy syndrome, 601536 (3) |HOXA1, HOX1F, BSAS|142955|7p15.3 Bothnia retinal dystrophy, 607475 (3) |RLBP1|180090|15q26 Bowen-Conradi syndrome (2) |BWCNS|211180|12p13.3 Brachiootic syndrome 3, 608389 (3) |SIX1, BOS3, DFNA23|601205|14q23 Brachydactyly, type A1, 112500 (2) |BDA1B|607004|5p13.3-p13.2 Brachydactyly, type A1, 112500 (3) |IHH, BDA1|600726|2q33-q35 Brachydactyly, type A2, 112600 (3) |BMPR1B, ALK6|603248|4q23-q24 Brachydactyly, type A2, 112600 (3) |GDF5, CDMP1, SYNS2|601146|20q11.2 Brachydactyly, type B1, 113000 (3) |ROR2, BDB1, BDB, NTRKR2|602337|9q22 Brachydactyly, type C, 113100 (3) |GDF5, CDMP1, SYNS2|601146|20q11.2 Brachydactyly, type D, 113200 (3) |HOXD13, HOX4I, SPD, BDSD|142989|2q31-q32 Brachydactyly, type E, 113300 (3) |HOXD13, HOX4I, SPD, BDSD|142989|2q31-q32 Brachydactyly-mental retardation syndrome (2) |BDMR, AHO3|600430|2q37 Brachydactyly-syndactyly syndrome, 610713 (3) |HOXD13, HOX4I, SPD, BDSD|142989|2q31-q32 Bradyopsia, 608415 (3) |RGS9, PERRS|604067|17q23-q24 Bradyopsia, 608415 (3) |RGS9BP, R9AP, RGS9, PERRS|607814|19q13.11 Brain small vessel disease with hemorrhage, 607595 (3) |COL4A1|120130|13q34 Brain tumor-polyposis syndrome 2 (3) |APC, GS, FPC, BTPS2|611731|5q21-q22 Branchiootic syndrome (3) |EYA1, BOR|601653|8q13.3 Branchiootic syndrome 2 (2) |BOS2|120502|1q31 Branchiootorenal syndrome 2, 610896 (3) |SIX5, DMAHP, BOR2|600963|19q13.3 Branchiootorenal syndrome with cataract, 113650 (3) |EYA1, BOR|601653|8q13.3 Branchiootorenal syndrome, 113650 (3) |EYA1, BOR|601653|8q13.3 Breast cancer (1) |BCPR|113721|17p13.3 Breast cancer (1) |ESR1, ESR|133430|6q25.1 Breast cancer (3) |TSG101|601387|11p15.2-p15.1 Breast cancer 2, early onset (3) |BRCA2, FANCD1|600185|13q12.3 Breast cancer, 114480 (3) |PPM1D, WIP1|605100|17q22-q23 Breast cancer, 114480 (3) |SLC22A1L, BWSCR1A, IMPT1|602631|11p15.5 Breast cancer, 114480 (3) |TP53, P53, LFS1|191170|17p13.1 Breast cancer, 11:22 translocation associated (1) |BRCATA|600048|11q23 Breast cancer, ductal (2) |BRCD1|211410|Chr.13 Breast cancer, ductal (2) |BRCD2|211420|1p36 Breast cancer, early-onset, 114480 (3) |BRIP1, BACH1, FANCJ|605882|17q22 Breast cancer, invasive intraductal (3) |RAD54L, HR54, HRAD54|603615|1p32 Breast cancer, lobular (3) |CDH1, UVO, LCAM, ECAD|192090|16q22.1 Breast cancer, male, with Reifenstein syndrome (3) |AR, DHTR, TFM, SBMA, KD, SMAX1|313700|Xq11-q12 Breast cancer, somatic, 114480 (3) |AKT1|164730|14q32.3 Breast cancer, somatic, 114480 (3) |KRAS2, RASK2, NS3|190070|12p12.1 Breast cancer, somatic, 114480 (3) |PIK3CA|171834|3q26.3 Breast cancer, somatic, 114480 (3) |RB1CC1, CC1, KIAA0203|606837|8q11 Breast cancer, sporadic (3) |PHB|176705|17q21 Breast cancer, type 3 (2) (?) |BRCA3, BRCAX|605365|13q21 Breast cancer-1 (3) |BRCA1, PSCP|113705|17q21 Breast-ovarian cancer (3) |BRCA1, PSCP|113705|17q21 Brody myopathy, 601003 (3) |ATP2A1, SERCA1|108730|16p12 Bruck syndrome (2) |BRKS, TLH1|259450|17p12 Bruck syndrome 2, 609220 (3) |PLOD2|601865|3q23-q24 Brugada syndrome 1, 601144 (3) |SCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2|600163|3p21 Brugada syndrome 2, 611777 (3) |GPD1L, KIAA0089|611778|3p22.3 Brugada syndrome 3, 611875 (3) |CACNA1C, CACNL1A1, CCHL1A1, TS|114205|12p13.3 Brugada syndrome 4, 611876 (3) |CACNB2|600003|10p12 Brunner syndrome (3) |MAOA|309850|Xp11.23 Burkitt lymphoma, 113970 (3) |MYC|190080|8q24.12-q24.13 Buschke-Ollendorff syndrome, 166700 (3) |LEMD3, MAN1|607844|12q14 Butterfly dystrophy, retinal, 169150 (3) |RDS, RP7, PRPH2, PRPH, AVMD, AOFMD|179605|6p21.1-cen C syndrome, 211750 (3) |CD96, TACTILE|606037|3q13.13 C-like syndrome, 605039 (3) |CD96, TACTILE|606037|3q13.13 C1q deficiency, type A (3) |C1QA|120550|1p36.3-p34.1 C1q deficiency, type B (3) |C1QB|120570|1p36.3-p34.1 C1q deficiency, type C (3) |C1QG|120575|1p36.3-p34.1 C1r/C1s deficiency, combined (1) |C1R|216950|12p13 C1r/C1s deficiency, combined (1) |C1S|120580|12p13 C1s deficiency, isolated (3) |C1S|120580|12p13 C2 deficiency (3) |C2|217000|6p21.3 C3 deficiency (3) |C3, ARMD9|120700|19p13.3-p13.2 C3b inactivator deficiency (3) |IF|217030|4q25 C4 deficiency (3) |C4A, C4S|120810|6p21.3 C4 deficiency (3) |C4B, C4F|120820|6p21.3 C5 deficiency (1) |C5|120900|9q34.1 C6 deficiency (3) |C6|217050|5p13 C7 deficiency, 610102 (3) |C7|217070|5p13 C8 deficiency, type I (2) |C8A|120950|1p32 C8 deficiency, type II (3) |C8B|120960|1p32 C9 deficiency (3) |C9|120940|5p13 C9 deficiency with dermatomyositis (3) |C9|120940|5p13 CATSHL syndrome, 610474 (3) |FGFR3, ACH|134934|4p16.3 CD59 deficiency (3) |CD59, MIC11|107271|11p13 CD8 deficiency, familial, 608957 (3) |CD8A|186910|2p12 CDAGS syndrome (2) |CDAGS|603116|22q12-q13 CHARGE syndrome, 214800 (3) |CHD7, IS3|608892|8q12.1 CHARGE syndrome, 214800 (3) |SEMA3E, SEMAH, KIAA0331|608166|7q21.1 CHILD syndrome, 308050 (3) |NSDHL|300275|Xq28 CINCA syndrome, 607115 (3) |CIAS1, FCU, FCAS, NALP3, PYPAF1|606416|1q44 COPD, rate of decline of lung function in, 606963 (3) |MMP1, CLG|120353|11q22-q23 CPT II deficiency, lethal neonatal, 608836 (3) |CPT2|600650|1p32 CPT deficiency, hepatic, type IA, 255120 (3) |CPT1A|600528|11q13 CPT deficiency, hepatic, type II, 600649 (3) |CPT2|600650|1p32 CR1 deficiency (1) |CR1, C3BR|120620|1q32 CRASH syndrome, 303350 (3) |L1CAM, CAML1, HSAS1|308840|Xq28 Caffey disease, 114000 (3) |COL1A1|120150|17q21.31-q22 Campomelic dysplasia with autosomal sex reversal, 114290 (3) |SOX9, CMD1, SRA1|608160|17q24.3-q25.1 Campomelic dysplasia, 114290 (3) |SOX9, CMD1, SRA1|608160|17q24.3-q25.1 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3) |PRG4, CACP, MSF, SZP, HAPO|604283|1q24-q25 Camurati-Engelmann disease, 131300 (3) |TGFB1, DPD1, CED|190180|19q13.1 Canavan disease, 271900 (3) |ASPA|608034|17pter-p13 Candidiasis, familial chronic mucocutaneous, autosomal dominant, with thyroid disease (2) |CMCT|606415|2p Candidiasis, familial chronic nail, with ICAM1 deficiency (2) |CANDN1, FCNC|607644|11p13-q12 Capillary malformation-arteriovenous malformation, 608354 (3) |RASA1, GAP, CMAVM, PKWS|139150|5q13.3 Capillary malformations, hereditary (2) |CMAL|163000|5q13-q22 Carbamoylphosphate synthetase I deficiency, 237300 (3) |CPS1|608307|2q35 Carbohydrate-deficient glycoprotein syndrome, type I, 212065 (3) |PMM2, CDG1|601785|16p13.3-p13.2 Carbohydrate-deficient glycoprotein syndrome, type II, 212066 (3) |MGAT2, CDGS2|602616|14q21 Carbohydrate-deficient glycoprotein syndrome, type Ib, 602579 (3) |MPI, PMI1|154550|15q22-qter Carboxypeptidase N deficiency, 212070 (3) |CPN1, SCPN, CPN|603103|10q24.2 Carcinoid tumor of lung (3) |MEN1|131100|11q13 Carcinoid tumors, intestinal, 114900 (3) |SDHD, PGL1|602690|11q23 Cardiac valvular dysplasia-1 (2) |CVD1, XMVD|314400|Xq28 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, 604377 (3) |SCO2|604272|22q13 Cardiofaciocutaneous syndrome, 115150 (3) |BRAF|164757|7q34 Cardiomyopathy, dilated (3) |LDB3, ZASP, CYPHER, KIAA01613|605906|10q22.2-q23.3 Cardiomyopathy, dilated, 115200 (3) (?) |MYBPC3, CMH4|600958|11p11.2 Cardiomyopathy, dilated, 1A, 115200 (3) |LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B|150330|1q21.2 Cardiomyopathy, dilated, 1A, 115200 (3) |LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B|150330|1q21.2 Cardiomyopathy, dilated, 1C (2) |CMD1C, CMPD3|601493|10q21-q23 Cardiomyopathy, dilated, 1D, 601494 (3) |TNNT2, CMH2, CMD1D|191045|1q32 Cardiomyopathy, dilated, 1E, 601154 (3) |SCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2|600163|3p21 Cardiomyopathy, dilated, 1F (2) |CMD1F, CDCD3|602067|6q23 Cardiomyopathy, dilated, 1G, 604145 (3) |TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC|188840|2q31 Cardiomyopathy, dilated, 1H (2) |CMD1H|604288|2q14-q22 Cardiomyopathy, dilated, 1I, 604765 (3) |DES, CMD1I|125660|2q35 Cardiomyopathy, dilated, 1J, 605362 (3) |EYA4, DFNA10, CMD1J|603550|6q23 Cardiomyopathy, dilated, 1K (2) |CMD1K|605582|6q12-q16 Cardiomyopathy, dilated, 1L, 606685 (3) |SGCD, SGD, LGMD2F, CMD1L|601411|5q33 Cardiomyopathy, dilated, 1M, 607482 (3) |CSRP3, CRP3, CLP, CMD1M|600824|11p15.1 Cardiomyopathy, dilated, 1N, 607487 (3) |TCAP, LGMD2G, CMD1N|604488|17q12 Cardiomyopathy, dilated, 1O, 608569 (3) |ABCC9, SUR2, CMD1O|601439|12p12.1 Cardiomyopathy, dilated, 1P, 609909 (3) |PLN, PLB, CMD1P|172405|6q22.1 Cardiomyopathy, dilated, 1Q (2) |CMD1Q|609915|7q22.3-q31.1 Cardiomyopathy, dilated, 1R (3) |ACTC1, CMD1R|102540|15q14 Cardiomyopathy, dilated, 1S (3) |MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD|160760|14q12 Cardiomyopathy, dilated, 1T (3) |TMPO, LAP2, CMD1T|188380|12q22 Cardiomyopathy, dilated, 1U (3) |PSEN1, AD3|104311|14q24.3 Cardiomyopathy, dilated, 1V (3) |PSEN2, AD4, STM2|600759|1q31-q42 Cardiomyopathy, dilated, 1W, 611407 (3) |VCL, CMD1W|193065|10q22.1-q23 Cardiomyopathy, dilated, 1X, 611615 (3) |FKTN, FCMD, CMD1X, LGMD2M|607440|9q31 Cardiomyopathy, dilated, 1Y, 611878 (3) |TPM1, CMH3, CMD1Y|191010|15q22.1 Cardiomyopathy, dilated, 1Z, 611879 (3) |TNNC1, CMD1Z|191040|3p21.3-p14.3 Cardiomyopathy, dilated, 2A, 611880 (3) |TNNI3, CMH7, CMD2A|191044|19q13.4 Cardiomyopathy, dilated, 3A, 300069 (3) |TAZ, EFE2, BTHS, CMD3A, LVNCX|300394|Xq28 Cardiomyopathy, dilated, 3B, 302045 (3) |DMD, BMD, CMD3B|300377|Xp21.2 Cardiomyopathy, dilated, with left ventricular noncompaction (3) |LDB3, ZASP, CYPHER, KIAA01613|605906|10q22.2-q23.3 Cardiomyopathy, familial dilated 1B (2) |CMD1B, CMPD1, FDC|600884|9q13 Cardiomyopathy, familial hypertrophic, 1, 192600 (3) |MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD|160760|14q12 Cardiomyopathy, familial hypertrophic, 10, 608758 (3) |MYL2, CMH10|160781|12q23-q24.3 Cardiomyopathy, familial hypertrophic, 192600 (3) |ACTC1, CMD1R|102540|15q14 Cardiomyopathy, familial hypertrophic, 192600 (3) |CAV3, LGMD1C, LQT9|601253|3p25 Cardiomyopathy, familial hypertrophic, 192600 (3) |MYH6, ASD3, MYHCA|160710|14q12 Cardiomyopathy, familial hypertrophic, 192600 (3) (?) |TNNC1, CMD1Z|191040|3p21.3-p14.3 Cardiomyopathy, familial hypertrophic, 2, 115195 (3) |TNNT2, CMH2, CMD1D|191045|1q32 Cardiomyopathy, familial hypertrophic, 3, 115196 (3) |TPM1, CMH3, CMD1Y|191010|15q22.1 Cardiomyopathy, familial hypertrophic, 4, 115197 (3) |MYBPC3, CMH4|600958|11p11.2 Cardiomyopathy, familial hypertrophic, 7 (3) |TNNI3, CMH7, CMD2A|191044|19q13.4 Cardiomyopathy, familial hypertrophic, 8, 608751 (3) |MYL3, CMH8|160790|3p Cardiomyopathy, familial hypertrophic, 9 (3) |TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC|188840|2q31 Cardiomyopathy, familial restrictive, 115210 (3) |TNNI3, CMH7, CMD2A|191044|19q13.4 Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3) |PRKAG2, WPWS, CMH6|602743|7q36 Cardiomyopathy, hypertrophic, early-onset fatal (3) |COX15|603646|10q24 Cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 608758 (3) |MYL2, CMH10|160781|12q23-q24.3 Cardiomyopathy, hypertrophic, midventricular, digenic, 192600 (3) |MYLK2, MLCK|606566|20q13.3 Carney complex variant, 608837 (3) |MYH8|160741|17p13.1 Carney complex, type 1, 160980 (3) |PRKAR1A, TSE1, CNC1, CAR, PPNAD1|188830|17q23-q24 Carney complex, type II (2) |CNC2|605244|2p16 Carnitine acetyltransferase deficiency (1) (?) |CRAT, CAT1|600184|9q34.1 Carnitine deficiency, systemic primary, 212140 (3) |SLC22A5, OCTN2, CDSP, SCD|603377|5q31.1 Carnitine-acylcarnitine translocase deficiency (3) |SLC25A20, CACT, CAC|212138|3p21.31 Carnosinemia (2) |CNSN|212200|18q21.3 Carotid intimal medial thickness (2) |CIMT|608447|12q24 Carpal tunnel syndrome, familial (3) |TTR, PALB|176300|18q11.2-q12.1 Carpenter syndrome, 201000 (3) |RAB23|606144|6p11 Cartilage-hair hypoplasia, 250250 (3) |RMRP, RMRPR, CHH|157660|9p21-p12 Cat eye syndrome (2) |CECR, CES|115470|22q11 Cataract, Coppock-like, 604307 (3) |CRYBB2, CRYB2|123620|22q11.2-q12.2 Cataract, Coppock-like, 604307 (3) |CRYGC, CRYG3, CCL|123680|2q33-q35 Cataract, Marner type, 116800 (3) |HSF4, CTM|602438|16q21-q22.1 Cataract, anterior polar-1 (2) (?) |CTAA1|115650|14q24-qter Cataract, anterior polar-2 (2) |CTAA2|601202|17p13 Cataract, autosomal dominant nuclear (3) |CRYAA, CRYA1|123580|21q22.3 Cataract, autosomal dominant, multiple types 1, 611597 (3) |BFSP2, CP49, CP47|603212|3q21-q25 Cataract, autosomal recessive congenital 2 (2) |CATC2|610019|3p22-p21 Cataract, autosomal recessive, early-onset, pulverulent (2) |CAAR|605749|9q13-q22 Cataract, central saccular, with sutural opacities (2) |CCSSO|605728|15q21-q22 Cataract, cerulean, type 1 (2) |CCA1|115660|17q24 Cataract, cerulean, type 2, 601547 (3) |CRYBB2, CRYB2|123620|22q11.2-q12.2 Cataract, congenital (2) (?) |SORD, SORD1|182500|15q15.3 Cataract, congenital (3) |PITX3, CTPP4|602669|10q25 Cataract, congenital nuclear, 1 (2) |CATCN1|609376|19q13 Cataract, congenital nuclear, 2, 609741 (3) |CRYBB3, CRYB3, CATCN2|123630|22q11.2-q12.2 Cataract, congenital nuclear, autosomal recessive 3, 611544 (3) |CRYBB1, CATCN3|600929|22q11.2-q12.1 Cataract, congenital total (2) (?) |CCT|302200|Xp Cataract, congenital zonular, with sutural opacities, 600881 (3) |CRYBA1, CRYB1|123610|17q11.1-q12 Cataract, congenital, 604219 (3) |BFSP2, CP49, CP47|603212|3q21-q25 Cataract, congenital, Volkmann type (2) |CCV|115665|1pter-p36.13 Cataract, congenital, autosomal recessive (3) |CRYAA, CRYA1|123580|21q22.3 Cataract, congenital, cerulean type, 3, 608983 (3) |CRYGD, CRYG4, CCP|123690|2q33-q35 Cataract, congenital, cerulean type, 4, 610202 (3) |MAF|177075|16q22-q23 Cataract, congenital, with late-onset corneal dystrophy (3) |PAX6, AN2, MGDA|607108|11p13 Cataract, cortical pulverulent, late-onset (3) |LIM2, MP19|154045|19q13.4 Cataract, cortical, juvenile-onset, 611391 (3) |BFSP1, CP115|603307|20p12.1-p11.23 Cataract, crystalline aculeiform, 115700 (3) |CRYGD, CRYG4, CCP|123690|2q33-q35 Cataract, juvenile-onset, 604219 (3) |BFSP2, CP49, CP47|603212|3q21-q25 Cataract, lamellar 2, 610425 (3) |CRYBA4|123631|22q11.2-q13.1 Cataract, lamellar, 116800 (3) |HSF4, CTM|602438|16q21-q22.1 Cataract, nonnuclear polymorphic congenital, 601286 (3) |CRYGD, CRYG4, CCP|123690|2q33-q35 Cataract, nuclear progressive (2) |CCNP|607304|2p12 Cataract, polymorphic and lamellar, 604219 (3) |MIP, AQP0|154050|12q13 Cataract, posterior polar (2) |CTPP, CPP, CTPA|116600|1pter-p36.1 Cataract, posterior polar 2 (3) |CRYAB, CRYA2, CTPP2|123590|11q22.3-q23.1 Cataract, posterior polar, 3, 605387 (3) |CHMP4B, SNF7, CTPP3|610897|20q11.21 Cataract, posterior polar, 4, 610623 (3) |PITX3, CTPP4|602669|10q25 Cataract, posterior polar, 4, syndromic, 610623 (3) |PITX3, CTPP4|602669|10q25 Cataract, posterior polar, 5 (2) |CTPP5|610634|14q22-q23 Cataract, progressive polymorphic cortical (3) |CRYGS, CRYG8|123730|3q27 Cataract, pulverulent (3) |CRYBB1, CATCN3|600929|22q11.2-q12.1 Cataract, pulverulent, juvenile-onset, 610202 (3) |MAF|177075|16q22-q23 Cataract, sutural, with punctate and cerulean opacities, 607133 (3) |CRYBB2, CRYB2|123620|22q11.2-q12.2 Cataract, variable zonular pulverulent (3) |CRYGC, CRYG3, CCL|123680|2q33-q35 Cataract, zonular central nuclear, autosomal dominant (3) |CRYAA, CRYA1|123580|21q22.3 Cataract, zonular pulverulent-1, 116200 (3) |GJA8, CX50, CAE1|600897|1q21.1 Cataract, zonular pulverulent-3, 601885 (3) |GJA3, CX46, CZP3, CAE3|121015|13q11 Cataracts, punctate, progressive juvenile-onset (3) |CRYGD, CRYG4, CCP|123690|2q33-q35 Caudal duplication anomaly, 607864 (3) |AXIN1, AXIN|603816|16p13.3 Caudal regression syndrome, 600145 (3) |VANGL1, STBM2|610132|1p13 Cavernous malformations of CNS and retina, 116860 (3) |CCM1, CAM, KRIT1|604214|7q11.2-q21 Cayler cardiofacial syndrome (2) |ACF|125520|22q11 Central core disease, 117000 (3) |RYR1, MHS, CCO|180901|19q13.1 Central hypoventilation syndrome, 209880 (3) |GDNF|600837|5p13.1-p12 Central hypoventilation syndrome, congenital, 209880 (3) |ASCL1, ASH1|100790|12q22-q23 Central hypoventilation syndrome, congenital, 209880 (3) |BDNF|113505|11p13 Central hypoventilation syndrome, congenital, 209880 (3) |EDN3|131242|20q13.2-q13.3 Central hypoventilation syndrome, congenital, 209880 (3) |PMX2B, NBPHOX, PHOX2B|603851|4p12 Central hypoventilation syndrome, congenital, 209880 (3) |RET, MEN2A|164761|10q11.2 Centrocytic lymphoma (2) |CCND1, PRAD1, BCL1|168461|11q13 Cerebellar ataxia, 604290 (3) |CP|117700|3q23-q24 Cerebellar ataxia, pure (3) |CACNA1A, CACNL1A4, SCA6|601011|19p13 Cerebellar atrophy with progressive microcephaly (2) |CLAM|608027|7q11-q21 Cerebellar hypoplasia, VLDLR-associated, 224050 (3) |VLDLR, VLDLRCH|192977|9p24 Cerebellar hypoplasia, mental retardation, and quadrupedal locomotion (2) |CHMRQ|610185|17p Cerebellooculorenal syndrome 2 (2) |CORS2, JBTS2, JBTSB|608091|11p12-q13.3 Cerebral amyloid angiopathy, 105150 (3) |CST3, ARMD11|604312|20p11.2 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, 125310 (3) |NOTCH3, CADASIL, CASIL|600276|19p13.2-p13.1 Cerebral cavernous malformations 3, 603285 (3) |PDCD10, TFAR15, CCM3|609118|3q26.1 Cerebral cavernous malformations-1, 116860 (3) |CCM1, CAM, KRIT1|604214|7q11.2-q21 Cerebral cavernous malformations-2, 603284 (3) |C7orf22, CCM2, MGC4067|607929|7p13 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3) |SNAP29, CEDNIK|604202|22q11.2 Cerebral palsy, ataxic, autosomal recessive (2) |ACP|605388|9p12-q12 Cerebral palsy, spastic, symmetric, autosomal recessive, 603513 (3) |GAD1, SCP|605363|2q31 Cerebrooculofacioskeletal syndrome 1, 214150 (3) |ERCC6, CKN2, COFS1, CSB, ARMD5|609413|10q11 Cerebrooculofacioskeletal syndrome 2, 610756 (3) |ERCC2, EM9, XPD, COFS2|126340|19q13.2-q13.3 Cerebrooculofacioskeletal syndrome 3 (3) |ERCC5, XPG, COFS3|133530|13q33 Cerebrooculofacioskeletal syndrome 4, 610758 (3) |ERCC1, UV20, COFS4|126380|19q13.2-q13.3 Cerebrotendinous xanthomatosis, 213700 (3) |CYP27A1, CYP27, CTX|606530|2q33-qter Cerebrovascular disease, occlusive (3) |SERPINA3, AACT, ACT|107280|14q32.1 Ceroid lipofuscinosis, neuronal 8, 600143 (3) |CLN8, EPMR|607837|8pter-p22 Ceroid lipofuscinosis, neuronal, 10, 610127 (3) |CTSD, CPSD, CLN10|116840|11p15.5 Ceroid lipofuscinosis, neuronal, 7, 610951 (3) |MFSD8, MGC33302|611124|4q28.1-q28.2 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 (3) |CLN8, EPMR|607837|8pter-p22 Ceroid lipofuscinosis, neuronal, variant juvenile type, with granular osmiophilic deposits (3) |PPT1, CLN1|600722|1p32 Ceroid lipofuscinosis, neuronal-1, infantile, 256730 (3) |PPT1, CLN1|600722|1p32 Ceroid-lipofuscinosis, neuronal 2, classic late infantile, 204500 (3) |TPP1, CLN2|607998|11p15.5 Ceroid-lipofuscinosis, neuronal-3, juvenile, 204200 (3) |CLN3, BTS|607042|16p12.1 Ceroid-lipofuscinosis, neuronal-5, variant late infantile, 256731 (3) |CLN5|608102|13q21.1-q32 Ceroid-lipofuscinosis, neuronal-6, variant late infantile, 601780 (3) |CLN6|606725|15q21-q23 Cervical cancer, somatic, 603956 (3) |FGFR3, ACH|134934|4p16.3 Cervical carcinoma (2) |ST3|191181|11q13 Chanarin-Dorfman syndrome, 275630 (3) |ABHD5, CGI58, IECN2, NCIE2|604780|3p21 Char syndrome, 169100 (3) |TFAP2B, CHAR|601601|6p12 Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 (3) |PRPS1, CMTX5|311850|Xq22-q24 Charcot-Marie-Tooth disease, axonal, type 2F, 606595 (3) |HSPB1, HSP27, CMT2F, HMN2B|602195|7q11.23 Charcot-Marie-Tooth disease, axonal, type 2G (2) |CMT2G|608591|12q12-q13.3 Charcot-Marie-Tooth disease, axonal, type 2L, 608673 (3) |HSPB8, H11, E2IG1, DHMN2, CMT2L, HMN2A|608014|12q24 Charcot-Marie-Tooth disease, dominant intermediate 2 (2) |CMTDI2|606483|10q24.1-q25.1 Charcot-Marie-Tooth disease, dominant intermediate 3, 607791 (3) |MPZ, CMT1B, CMTDI3, CHM, DSS|159440|1q22 Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3) |DNM2, CMTDIB, CMTDI1|602378|19p13.2 Charcot-Marie-Tooth disease, dominant intermediate C, 608323 (3) |YARS, CMTDIC, TYRRS, YTS, YRS|603623|1p35 Charcot-Marie-Tooth disease, foot deformity of (3) |HOXD10, HOX4D|142984|2q31-q32 Charcot-Marie-Tooth disease, mixed axonal and demyelinating type, 214400 (3) |GDAP1, CMT4A, CMT2K, CMT2G|606598|8q13-q21.1 Charcot-Marie-Tooth disease, type 1A, 118220 (3) |PMP22, CMT1A, CMT1E, DSS|601097|17p11.2 Charcot-Marie-Tooth disease, type 1B, 118200 (3) |MPZ, CMT1B, CMTDI3, CHM, DSS|159440|1q22 Charcot-Marie-Tooth disease, type 1C, 601098 (3) |LITAF, CMT1C|603795|16p13.3-p12 Charcot-Marie-Tooth disease, type 1D, 607678 (3) |EGR2, KROX20|129010|10q21.1-q22.1 Charcot-Marie-Tooth disease, type 1E, 118300 (3) |PMP22, CMT1A, CMT1E, DSS|601097|17p11.2 Charcot-Marie-Tooth disease, type 1F, 607734 (3) |NEFL, CMT2E, CMT1F|162280|8p21 Charcot-Marie-Tooth disease, type 2A1, 118210 (3) |KIF1B, CMT2A, CMT2A1|605995|1p36.2 Charcot-Marie-Tooth disease, type 2A2, 609260 (3) |MFN2, KIAA0214, CMT2A2|608507|1p36.2 Charcot-Marie-Tooth disease, type 2B, 600882 (3) |RAB7, CMT2B, PSN|602298|3q21 Charcot-Marie-Tooth disease, type 2B1, 605588 (3) |LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B|150330|1q21.2 Charcot-Marie-Tooth disease, type 2B1, 605588 (3) |LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B|150330|1q21.2 Charcot-Marie-Tooth disease, type 2B2 (2) |CMT2B2|605589|19q13.3 Charcot-Marie-Tooth disease, type 2C (2) |CMT2C, HMSN2C|606071|12q23-q24 Charcot-Marie-Tooth disease, type 2D, 601472 (3) |GARS, SMAD1, CMT2D, HMN5|600287|7p15 Charcot-Marie-Tooth disease, type 2E, 607684 (3) |NEFL, CMT2E, CMT1F|162280|8p21 Charcot-Marie-Tooth disease, type 2G, 607706 (3) |GDAP1, CMT4A, CMT2K, CMT2G|606598|8q13-q21.1 Charcot-Marie-Tooth disease, type 2I, 607677 (3) |MPZ, CMT1B, CMTDI3, CHM, DSS|159440|1q22 Charcot-Marie-Tooth disease, type 2J, 607736 (3) |MPZ, CMT1B, CMTDI3, CHM, DSS|159440|1q22 Charcot-Marie-Tooth disease, type 2K, 607831 (3) |GDAP1, CMT4A, CMT2K, CMT2G|606598|8q13-q21.1 Charcot-Marie-Tooth disease, type 4A, 214400 (3) |GDAP1, CMT4A, CMT2K, CMT2G|606598|8q13-q21.1 Charcot-Marie-Tooth disease, type 4B1, 601382 (3) |MTMR2, CMT4B1|603557|11q22 Charcot-Marie-Tooth disease, type 4B2, 604563 (3) |SBF2, MTMR13, CMT4B2|607697|11p15 Charcot-Marie-Tooth disease, type 4C, 601596 (3) |SH3TC2, KIAA1985|608206|5q32 Charcot-Marie-Tooth disease, type 4D, 601455 (3) |NDRG1, HMSNL, CMT4D|605262|8q24.3 Charcot-Marie-Tooth disease, type 4H, 609311 (3) |FGD4, FRABIN|611104|12p11.2 Charcot-Marie-Tooth disease, type 4J, 611228 (3) |FIG4, KIAA0274, SAC3|609390|6q21 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 (3) |GJB1, CX32, CMTX1|304040|Xq13.1 Charcot-Marie-Tooth neuropathy, X-linked recessive, 2 (2) |CMTX2|302801|Xp22.2 Charcot-Marie-Tooth neuropathy, X-linked recessive, 3 (2) |CMTX3|302802|Xq26 Chediak-Higashi syndrome, 214500 (3) |CHS1, LYST|606897|1q42.1-q42.2 Cherubism, 118400 (3) |SH3BP2, CRPM|602104|4p16.3 Chilblain lupus (2) |CHBL|610448|3p21 Chilblain lupus, 610448 (3) |TREX1, AGS1, AGS5, CRV, HERNS|606609|3p21.3-p21.2 Chloride diarrhea, congenital, Finnish type, 214700 (3) |SLC26A3, DRA, CLD|126650|7q22-q31.1 Cholestasis, benign recurrent intrahepatic, 243300 (3) |ATP8B1, FIC1, BRIC, PFIC1|602397|18q21 Cholestasis, familial intrahepatic, of pregnancy, 147480 (3) |ABCB4, PGY3, MDR3|171060|7q21.1 Cholestasis, progressive canalicular (1) |VIL1|193040|2q35-q36 Cholestasis, progressive familial intrahepatic 1, 211600 (3) |ATP8B1, FIC1, BRIC, PFIC1|602397|18q21 Cholestasis, progressive familial intrahepatic 2, 601847 (3) |ABCB11, BSEP, SPGP, PFIC2|603201|2q24 Cholestasis, progressive familial intrahepatic 3, 602347 (3) |ABCB4, PGY3, MDR3|171060|7q21.1 Cholestasis, progressive familial intrahepatic 4, 607765 (3) |HSD3B7, PFIC4|607764|16p12-p11.2 Cholestasis-lymphedema syndrome (2) |LCS1, CHLS|214900|15q Cholesteryl ester storage disease (3) |LIPA|278000|10q24-q25 Chondrocalcinosis 2, 118600 (3) |ANKH, HANK, ANK, CMDJ, CCAL2, CPPDD|605145|5p15.2-p14.1 Chondrocalcinosis with early-onset osteoarthritis (2) |CCAL1|600668|8q Chondrodysplasia punctata, X-linked dominant, 302960 (3) |EBP, CDPX2, CPXD, CPX|300205|Xp11.23-p11.22 Chondrodysplasia punctata, X-linked recessive, 302950 (3) |ARSE, CDPX1, CDPXR|300180|Xp22.3 Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3) |GNPAT, DHAPAT|602744|1q42 Chondrodysplasia, Blomstrand type, 215045 (3) |PTHR1, PTHR|168468|3p22-p21.1 Chondrodysplasia, Grebe type, 200700 (3) |GDF5, CDMP1, SYNS2|601146|20q11.2 Chondrosarcoma, 215300 (3) |EXT1|608177|8q24.11-q24.13 Chondrosarcoma, extraskeletal myxoid (1) |TAF15, TAF2N, RBP56|601574|17q11.1-q11.2 Chondrosarcoma, extraskeletal myxoid (3) |CSMF|600542|9q22 Chondrosarcoma, extraskeletal myxoid (3) |EWSR1, EWS|133450|22q12 Chordoma (2) |CHDM|215400|7q33 Chorea, hereditary benign, 118700 (3) |NKX2-1, TITF1, NKX2A, TTF1|600635|14q13 Choreoacanthocytosis, 200150 (3) |VPS13A, CHAC|605978|9q21 Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 (3) |NKX2-1, TITF1, NKX2A, TTF1|600635|14q13 Choreoathetosis/spasticity, episodic (2) |CSE, DYT9|601042|1p Chorioathetosis with mental retardation and abnormal behavior (2) |CAMR, MRXS10|300220|Xp11.2 Chorioretinal atrophy, progressive bifocal (2) |PBCRA, CRAPB|600790|6q14-q16.2 Choroidal dystrophy, central areolar (2) |CACD|215500|17p Choroideremia, 303100 (3) |CHM, TCD|300390|Xq21.2 Chromosome 10q deletion syndrome (2) |TQDS|609625|10q Chromosome 15q13.3 microdeletion syndrome (1) |MICRODEL15q13.3|612001|15q13.3 Chromosome 16p13.3 deletion syndrome (3) |RSTSS|610543|16p13.3 Chromosome 22q11.2 deletion syndrome, distal (2) |C22DDELS|611867|22q11.2 Chromosome 22q13.3 deletion syndrome, 606232 (3) |SHANK3, PSAP2, PROSAP2, KIAA1650|606230|22q13.3 Chromosome 3q29 microdeletion syndrome (2) |MICRODEL3q29|609425|3q29 Chromosome 3q29 microduplication syndrome (2) |MICRODUP3q29|611936|3q29 Chromosome 9q subtelomeric deletion syndrome, 610253 (3) |EHMT1, EUHMTASE1|607001|9q34.3 Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3) |NCF1|608512|7q11.23 Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3) |NCF2|608515|1q25 Chronic granulomatous disease, X-linked, 306400 (3) |CYBB, CGD|300481|Xp21.1 Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3) |CYBA|608508|16q24 Chylomicron retention disease, 246700 (3) |SARA2, SAR1B, CMRD|607690|5q31.1 Ciliary dyskinesia, primary 7, 611884 (3) |DNAH11, DNAHC11, CILD7|603339|7p21 Ciliary dyskinesia, primary, 1, 242650 (3) |DNAI1, CILD1, ICS, PCD|604366|9p21-p13 Ciliary dyskinesia, primary, 2 (2) |CILD2, PCD|606763|19q13.3-qter Ciliary dyskinesia, primary, 3 608644 (3) |DNAH5, HL1, PCD, CILD3|603335|5p15-p14 Ciliary dyskinesia, primary, 4 (2) |CILD4|608646|15q13.1-q15.1 Ciliary dyskinesia, primary, 5 (2) |CILD5|608647|16p12.2-p12.1 Ciliary dyskinesia, primary, 6, 610852 (3) |TXNDC3, SPTRX2, CILD6|607421|7p14-p13 Cirrhosis, North American Indian childhood type, 604901 (3) |CIRH1A, NAIC, TEX292, KIAA1988|607456|16q22 Cirrhosis, cryptogenic (3) |KRT18|148070|12q13 Cirrhosis, cryptogenic (3) |KRT8|148060|12q13 Citrullinemia, 215700 (3) |ASS|603470|9q34.1 Citrullinemia, adult-onset type II, 603471 (3) |SLC25A13, CTLN2|603859|7q21.3 Citrullinemia, type II, neonatal-onset, 605814 (3) |SLC25A13, CTLN2|603859|7q21.3 Cleft lip with or without cleft palate, with gastric cancer, familial diffuse (3) |CDH1, UVO, LCAM, ECAD|192090|16q22.1 Cleft lip/palate ectodermal dysplasia syndrome, 225000 (3) |HVEC, PVRL1, PVRR1, PRR1, ED4, OFC7|600644|11q23-q24 Cleft lip/palate, nonsyndromic, 608874 (3) |MSX1, HOX7, HYD1, OFC5|142983|4p16.1 Cleft palate and mental retardation, 119540 (3) |SATB2, KIAA1034|608148|2q33 Cleft palate with ankyloglossia, 303400 (3) |TBX22, CPX|300307|Xq12-q21 Cleft palate, isolated, 119540 (2) |UBB|191339|17p12-p11.1 Cleidocranial dysplasia, 119600 (3) |RUNX2, CBFA1, PEBP2A1, AML3|600211|6p21 Clopidogrel, impaired responsiveness to (3) |CYP2C, CYP2C19|124020|10q24.1-q24.3 Cockayne syndrome, type A, 216400 (3) |ERCC8, CKN1, CSA|609412|5q12 Cockayne syndrome, type B, 133540 (3) |ERCC6, CKN2, COFS1, CSB, ARMD5|609413|10q11 Codeine sensitivity (3) |CYP2D@, CYP2D, P450C2D|124030|22q13.1 Coenzyme Q10 deficiency, 607426 (3) |APTX, AOA, AOA1|606350|9p13.3 Coenzyme Q10 deficiency, 607426 (3) |COQ2|609825|4q21-q22 Coenzyme Q10 deficiency, 607426 (3) |PDSS2, DLP1, C6orf210|610564|6q21 Coffin-Lowry syndrome, 303600 (3) |RPS6KA3, RSK2, MRX19|300075|Xp22.2-p22.1 Cohen syndrome, 216550 (3) |COH1|607817|8q22-q23 Colchicine resistance (3) |ABCB1, PGY1, MDR1|171050|7q21.1 Cold-induced autoinflammatory syndrome, familial, 120100 (3) |CIAS1, FCU, FCAS, NALP3, PYPAF1|606416|1q44 Cold-induced sweating syndrome 1, 610313 (3) |CLCF1, BSF3, CLC|607672|11q13.3 Cold-induced sweating syndrome, 272430 (3) |CRLF1, CISS|604237|19p12 Coloboma, ocular, 120200 (3) |PAX6, AN2, MGDA|607108|11p13 Coloboma, ocular, 120200 (3) |SHH, HPE3, HLP3, SMMCI, MCOPCB5|600725|7q36 Colon adenocarcinoma (3) |RAD54B|604289|8q21.3-q22 Colon adenocarcinoma (3) |RAD54L, HR54, HRAD54|603615|1p32 Colon cancer (1) (?) |SLC26A3, DRA, CLD|126650|7q22-q31.1 Colon cancer (3) |BCL10|603517|1p22 Colon cancer (3) |PTPN12, PTPG1|600079|7q11.23 Colon cancer, advanced (3) |SRC, ASV, SRC1|190090|20q12-q13 Colon cancer, hereditary nonpolypopsis, type 7 (3) |MLH3, HNPCC7|604395|14q24.3 Colon cancer, somatic, 114500 (3) |PTPRJ, DEP1|600925|11p11.2 Colorblindness, deutan (3) |OPN1MW, GCP, CBD, CBBM|303800|Xq28 Colorblindness, protan (3) |OPN1LW, RCP, CBP, CBBM|303900|Xq28 Colorblindness, tritan (3) |OPN1SW, BCP, CBT|190900|7q31.3-q32 Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 (3) |MUTYH, MYH|604933|1p34.3-p32.1 Colorectal cancer (3) |BAX|600040|19q13.3-q13.4 Colorectal cancer (3) |CTNNB1|116806|3p22-p21.3 Colorectal cancer (3) |DCC|120470|18q21.3 Colorectal cancer (3) |MCC|159350|5q21 Colorectal cancer with chromosomal instability (3) |BUB1|602452|2q14 Colorectal cancer, 114500 (3) |AXIN2|604025|17q24 Colorectal cancer, 114500 (3) |BUB1B, BUBR1|602860|15q15 Colorectal cancer, 114500 (3) |EP300|602700|22q13 Colorectal cancer, 114500 (3) |NRAS, ALPS4|164790|1p13.2 Colorectal cancer, 114500 (3) |PDGFRL, PDGRL, PRLTS|604584|8p22-p21.3 Colorectal cancer, 114500 (3) |TP53, P53, LFS1|191170|17p13.1 Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3) |MSH2, COCA1, FCC1, HNPCC1|609309|2p22-p21 Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3) |MLH1, COCA2, HNPCC2|120436|3p21.3 Colorectal cancer, hereditary nonpolyposis, type 3 (3) |PMS1, PMSL1, HNPCC3|600258|2q31-q33 Colorectal cancer, hereditary nonpolyposis, type 4 (3) |PMS2, PMSL2, HNPCC4|600259|7p22 Colorectal cancer, hereditary nonpolyposis, type 5 (3) |MSH6, GTBP, HNPCC5|600678|2p16 Colorectal cancer, hereditary nonpolyposis, type 6 (3) |TGFBR2, HNPCC6, AAT3, MFS2, LDS1B, LDS2B|190182|3p22 Colorectal cancer, somatic (3) |BRAF|164757|7q34 Colorectal cancer, somatic (3) |DLC1|604258|8p22-p21.3 Colorectal cancer, somatic, 109800 (3) |FGFR3, ACH|134934|4p16.3 Colorectal cancer, somatic, 114500 (3) |AKT1|164730|14q32.3 Colorectal cancer, somatic, 114500 (3) |APC, GS, FPC, BTPS2|611731|5q21-q22 Colorectal cancer, somatic, 114500 (3) |FLCN, BHD|607273|17p11.2 Colorectal cancer, somatic, 114500 (3) |MLH3, HNPCC7|604395|14q24.3 Colorectal cancer, somatic, 114500 (3) |PIK3CA|171834|3q26.3 Combined C6/C7 deficiency (3) |C6|217050|5p13 Combined SAP deficiency, 611721 (3) |PSAP, SAP1|176801|10q22.1 Combined factor V and VIII deficiency, 227300 (3) |LMAN1, ERGIC53, F5F8D, MCFD1|601567|18q21.3-q22 Combined hyperlipidemia, familial, 144250 (3) |LPL, LIPD, HDLCQ11|609708|8p22 Combined immunodeficiency, X-linked, moderate, 312863 (3) |IL2RG, SCIDX1, SCIDX, IMD4|308380|Xq13 Combined oxidative phosphorylation deficiency 1, 609060 (3) |GFM1, EFG1, GFM, COXPD1|606639|3q25.1-q26.2 Combined oxidative phosphorylation deficiency 2, 610498 (3) |MRPS16, COXPD2|609204|10q22.1 Combined oxidative phosphorylation deficiency 3, 610505 (3) |TSFM, COXPD3|604723|12q13-q14 Combined oxidative phosphorylation deficiency 4, 610678 (3) |TUFM, EFTU, COXPD4|602389|16p11.2 Combined oxidative phosphorylation deficiency 5, 611719 (3) |MRPS22, C3orf5, COXPD5|605810|3q23 Common variable immunodeficiency, 240500 (3) |TNFRSF13B, TACI, CVID|604907|17p11.2 Complement factor D deficiency (3) |CFD, ADN|134350|19p13.3 Complement factor H deficiency, 609814 (3) |HF1, CFH, HUS, ARMD4|134370|1q32 Complex I, mitochondrial respiratory chain, deficiency of, 252010 (3) |NDUFS6|603848|5pter-p15.33 Complex V, mitochondrial respiratory chain, deficiency of, 604273 (3) |ATPAF2, ATP12|608918|17p11.2 Cone dystrophy, progressive (2) |CORD5|600977|17p13-p12 Cone dystrophy, progressive X-linked, 2 (2) |COD2|300085|Xq27 Cone dystrophy-1, 304020 (3) |RPGR, RP3, CRD, RP15, COD1|312610|Xp21.1 Cone dystrophy-3, 602093 (3) |GUCA1A, GCAP|600364|6p21.1 Cone-rod dystrophy (3) |AIPL1, LCA4|604392|17p13.1 Cone-rod dystrophy 10, 610283 (3) |SEMA4A, SEMB, RP35, CORD10|607292|1q22 Cone-rod dystrophy 11, 610381 (3) |RAXL1, QRX, CORD11, ARMD6|610362|19p13.3 Cone-rod dystrophy 3, 604116 (3) |ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2|601691|1p21-p13 Cone-rod dystrophy 6, 601777(3) |GUCY2D, GUC2D, LCA1, CORD6|600179|17p13.1 Cone-rod dystrophy 7, 603649 (3) |RIMS1, RIM1, RIM, KIAA0340, CORD7|606629|6q12-q13 Cone-rod dystrophy 8 (2) |CORD8|605549|1q12-q24 Cone-rod dystrophy 9, 608194 (3) |RPGRIP1, LCA6, CORD9|605446|14q11 Cone-rod dystrophy, 300029 (3) |RPGR, RP3, CRD, RP15, COD1|312610|Xp21.1 Cone-rod dystrophy, X-linked, 3 (2) |CORDX, COD3|300476|Xp11.4-q13.1 Cone-rod dystrophy, X-linked, 3, 300476 (3) |CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2|300110|Xp11.23 Cone-rod retinal dystrophy-1 (2) |CORD1, CRD1|600624|18q21.1-q21.3 Cone-rod retinal dystrophy-2, 120970 (3) |CRX, CORD2, CRD, LCA7|602225|19q13.3 Congenital bilateral absence of vas deferens, 277180 (3) |CFTR, ABCC7, CF, MRP7|602421|7q31.2 Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3) |CTDP1, FCP1, CCFDN|604927|18q23 Congenital disorder of glycosylation, type IIc, 266265 (3) |SLC35C1, FUCT1|605881|11p11.2 Congenital disorder of glycosylation, type IId, 607091 (3) |B4GALT1, GGTB2, GT1, GTB|137060|9p13 Congenital disorder of glycosylation, type IIe, 608779 (3) |COG7, CDG2E|606978|16p Congenital disorder of glycosylation, type IIf, 603585 (3) |SLC35A1, CST|605634|6q15 Congenital disorder of glycosylation, type IIg, 611209 (3) |COG1, LDLB, KIAA1381, CDG2G|606973|17q25.1 Congenital disorder of glycosylation, type IIh, 611182 (3) |COG8, DOR1|606979|16q22.1 Congenital disorder of glycosylation, type Ic, 603147 (3) |ALG6|604566|1p22.3 Congenital disorder of glycosylation, type Id, 601110 (3) |ALG3, NOT56L, CDGS4|608750|3q27 Congenital disorder of glycosylation, type Ie, 608799 (3) |DPM1, MPDS, CDGIE|603503|20q13.13 Congenital disorder of glycosylation, type If, 609180 (3) |MPDU1, SL15, CDGIF|604041|17p13.1-p12 Congenital disorder of glycosylation, type Ig, 607143 (3) |ALG12|607144|22q13.33 Congenital disorder of glycosylation, type Ih, 608104 (3) |ALG8|608103|11pter-p15.5 Congenital disorder of glycosylation, type Ii, 607906 (3) |ALG2, CDGII|607905|9q22 Congenital disorder of glycosylation, type Ij, 608093 (3) |DPAGT2, DGPT|191350|11q23.3 Congenital disorder of glycosylation, type Ik, 608540 (3) |ALG1, HMAT1, HMT1|605907|16p13.3 Congenital disorder of glycosylation, type Il, 608776 (3) |ALG9, DIBD1|606941|11q23 Congenital disorder of glycosylation, type Im, 610768 (3) |TMEM15, DK1, SEC59, KIAA1094|610746|9q34.11 Congenital dyserythropoietic anemia II (2) |CDAN2, HEMPAS|224100|20q11.2 Congenital hereditary endothelial dystrophy of cornea, autosomal dominant (2) |CHED1, CHED|121700|20p11.2-q11.2 Conjunctivitis, ligneous, 217090 (3) |PLG|173350|6q26 Conotruncal anomaly face syndrome, 217095 (3) |TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR|602054|22q11.2 Contractural arachnodactyly, congenital (3) |FBN2, CCA|121050|5q23-q31 Convulsions, benign familial infantile (2) |BFIC|601764|19q Convulsions, benign familial infantile, 2 (2) |BFIC2|605751|16p12-q12 Convulsions, benign familial infantile, 3 (2) |BFIC3|606052|2q24 Convulsions, familial febrile, 1 (2) |FEB1|121210|8q13-q21 Convulsions, familial febrile, 2 (2) |FEB2|602477|19p13.3 Convulsions, familial febrile, 4, 604352 (3) |MASS1, VLGR1, KIAA0686, FEB4, USH2C|602851|5q14 Convulsions, infantile and paroxysmal choreoathetosis (2) |ICCA|602066|16p12-q12 Coproporphyria (3) |CPO|121300|3q12 Cornea plana congenita, recessive, 217300 (3) |KERA, CNA2|603288|12q22 Corneal clouding, autosomal recessive (3) |APOA1|107680|11q23 Corneal dystrophy and perceptive deafness 1 (2) |CDPD1|217400|20p13 Corneal dystrophy, Avellino type, 607541 (3) |TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD|601692|5q31 Corneal dystrophy, Groenouw type I, 121900 (3) |TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD|601692|5q31 Corneal dystrophy, Reis-Bucklers type, 608470 (3) |TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD|601692|5q31 Corneal dystrophy, Thiel-Behnke type (2) |CDB2, CDTB|602082|10q24 Corneal dystrophy, Thiel-Behnke type, 602082 (3) |TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD|601692|5q31 Corneal dystrophy, congenital stromal, 610048 (3) |DCN, CSCD|125255|12q13.2 Corneal dystrophy, crystalline, of Schnyder, 121800 (3) |UBIAD1, TERE1, SCCD|611632|1p36.3 Corneal dystrophy, epithelial basement membrane, 121820 (3) |TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD|601692|5q31 Corneal dystrophy, gelatinous drop-like, 204870 (3) |TACSTD2, TROP2, M1S1|137290|1p32 Corneal dystrophy, hereditary polymorphous posterior, 122000 (3) |VSX1, RINX, PPCD, PPD, KTCN|605020|20p11.2 Corneal dystrophy, lattice type I, 122200 (3) |TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD|601692|5q31 Corneal dystrophy, lattice type IIIA, 608471 (3) |TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD|601692|5q31 Corneal dystrophy, polymorphous posterior, 2, 122000 (3) |COL8A2, FECD, PPCD2|120252|1p34.3-p32.3 Corneal dystrophy, posterior polymorphous, 3, 609141 (3) |TCF8, PPCD3|189909|10p11.2 Corneal endothelial dystrophy 2, 217700 (3) |SLC4A11, BTR1, NABC1, CHED2, CDPD|610206|20p13-p12 Corneal endothelial dystrophy and perceptive deafness, 217400 (3) |SLC4A11, BTR1, NABC1, CHED2, CDPD|610206|20p13-p12 Corneal fleck dystrophy, 121850 (3) |PIP5K3, CFD|609414|2q35 Cornelia de Lange syndrome 1, 122470 (3) |NIPBL, CDLS1|608667|5p13.1 Cornelia de Lange syndrome 2, 300590 (3) |DXS423E, SMC1, CDLS2|300040|Xp11.22-p11.21 Cornelia de Lange syndrome 3, 610759 (3) |CSPG6, SMC3, HCAP, BAM, CDLS3|606062|10q25 Coronary artery disease, autosomal dominant 2, 610947 (3) |LRP6, ADCAD2|603507|12p13.3-p11.2 Coronary artery disease, autosomal dominant, 1, 608320 (3) |MEF2A, ADCAD1|600660|15q26 Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, 300472 (3) |IGBP1|300139|Xq13.1-q13.3 Corpus callosum, partial agenesis of, 304100 (3) |L1CAM, CAML1, HSAS1|308840|Xq28 Cortical dysplasia-focal epilepsy syndrome, 610042 (3) |CNTNAP2, CASPR2, NRXN4, CDFE|604569|7q35-q36 Corticosteroid-binding globulin deficiency, 611489 (3) |CBG, SERPINA6|122500|14q32.1 Cortisol resistance (3) |NR3C1, GCR, GRL|138040|5q31 Cortisone reductase deficiency, 604931 (3) |H6PD, GDH, G6PDH|138090|1p36 Cortisone reductase deficiency, 604931 (3) |HSD11B1, HSD11, HSD11L|600713|1q32-q41 Costello syndrome, 218040 (3) |HRAS|190020|11p15.5 Costello syndrome, 218040 (3) |KRAS2, RASK2, NS3|190070|12p12.1 Coumarin resistance, 122700 (3) |CYP2A6, CYP2A3, CYP2A, P450C2A|122720|19q13.2 Cowchock syndrome (2) |NAMSD, NADMR|310490|Xq24-q26.1 Cowden disease, 158350 (3) |PTEN, MMAC1|601728|10q23.31 Cramps, familial, potassium-aggravated (3) |SCN4A, HYPP, NAC1A|603967|17q23.1-q25.3 Craniofacial anomalies, empty sella turcica, corneal endothelial changes, and abnormal retinal and auditory bipolar cells (3) |VSX1, RINX, PPCD, PPD, KTCN|605020|20p11.2 Craniofacial-deafness-hand syndrome, 122880 (3) |PAX3, WS1, HUP2, CDHS|606597|2q35 Craniofacial-skeletal-dermatologic dysplasia (3) |FGFR2, BEK, CFD1, JWS|176943|10q26 Craniofrontonasal dysplasia, 304110 (3) |EFNB1, EPLG2, CFNS, CFND|300035|Xq12 Craniolenticulosutural dysplasia, 607812 (3) |SEC23A, CLSD|610511|14q21.1 Craniometaphyseal dysplasia, 123000 (3) |ANKH, HANK, ANK, CMDJ, CCAL2, CPPDD|605145|5p15.2-p14.1 Craniometaphyseal dysplasia, autosomal recessive (2) |CMDR|218400|6q21-q22 Craniosynostosis, Adelaide type (2) |CRSA, CRS3|600593|4p16 Craniosynostosis, nonspecific (3) |FGFR2, BEK, CFD1, JWS|176943|10q26 Craniosynostosis, type 1 (2) |CRS, CSO|123100|7p21.3-p21.2 Craniosynostosis, type 2, 604757 (3) |MSX2, CRS2, HOX8|123101|5q34-q35 Creatine deficiency syndrome, X-linked, 300352 (3) |SLC6A8, CRTR|300036|Xq28 Creatine phosphokinase, elevated serum, 123320 (3) |CAV3, LGMD1C, LQT9|601253|3p25 Creatine phosphokinase, elevated serum, 123320 (3) |CAV3, LGMD1C, LQT9|601253|3p25 Creatinine clearance QTL (2) |CRCL|607135|3p Cree encephalitis, 225750 (3) |TREX1, AGS1, AGS5, CRV, HERNS|606609|3p21.3-p21.2 Creutzfeldt-Jakob disease, 123400 (3) |PRNP, PRIP|176640|20pter-p12 Crigler-Najjar syndrome, type I, 218800 (3) |UGT1A1, UGT1, GNT1|191740|2q37 Crigler-Najjar syndrome, type II, 606785 (3) |UGT1A1, UGT1, GNT1|191740|2q37 Crisponi syndrome, 601378 (3) |CRLF1, CISS|604237|19p12 Crouzon syndrome with acanthosis nigricans (3) |FGFR3, ACH|134934|4p16.3 Crouzon syndrome, 123500 (3) |FGFR2, BEK, CFD1, JWS|176943|10q26 Cryptorchidism, bilateral, 219050 (3) |LGR8, GREAT|606655|13q13.1 Cryptorchidism, idiopathic, 219050 (3) |INSL3|146738|19p13.2 Cubitus valgus with mental retardation and unusual facies (2) |CVMRF|300471|Chr.X Currarino syndrome, 176450 (3) |HLXB9, HOXHB9, SCRA1|142994|7q36 Cutis laxa, AD, 123700 (3) |ELN|130160|7q11.2 Cutis laxa, autosomal dominant, 123700 (3) |FBLN5, ARMD3|604580|14q32.1 Cutis laxa, autosomal recessive, 219100 (3) |FBLN5, ARMD3|604580|14q32.1 Cutis laxa, autosomal recessive, type I, 219100 (3) |EFEMP2, FBLN4, UPH1|604633|11q13 Cutis laxa, autosomal recessive, type II, 219200 (3) |ATP6V0A2, WSS, ARCL|611716|12q24.3 Cutis laxa, marfanoid neonatal type (1) (?) |LAMB1|150240|7q31.1-q31.3 Cutis laxa, neonatal (3) |ATP7A, MNK, MK, OHS|300011|Xq12-q13 Cutis laxa, recessive, type I, 219100 (1) |LOX|153455|5q23.3-q31.2 Cyclic ichthyosis with epidermolytic hyperkeratosis, 607602 (3) |KRT1|139350|12q13 Cylindromatosis, familial, 132700 (3) |CYLD1, CDMT, EAC|605018|16q12-q13 Cystathioninuria, 219500 (3) |CTH|607657|1p31.1 Cystic fibrosis lung disease, modifier of, 219700 (3) |TGFB1, DPD1, CED|190180|19q13.1 Cystic fibrosis, 219700 (3) |CFTR, ABCC7, CF, MRP7|602421|7q31.2 Cystinosis, atypical nephropathic (3) |CTNS|606272|17p13 Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3) |CTNS|606272|17p13 Cystinosis, nephropathic, 219800 (3) |CTNS|606272|17p13 Cystinosis, ocular nonnephropathic, 219750 (3) |CTNS|606272|17p13 Cystinuria, 220100 (3) |SLC3A1, ATR1, D2H, NBAT|104614|2p16.3 Cystinuria, type II (3) |SLC7A9, CSNU3|604144|19q13.1 Cystinuria, type III (3) |SLC7A9, CSNU3|604144|19q13.1 D-2-hydroxyglutaric aciduria, 600721 (3) |D2HGD|609186|2p25.3 D-bifunctional protein deficiency, 261515 (3) |HSD17B4|601860|5q2 DECR deficiency (2) (?) |DECR1|222745|8q21.3 DNA ligase I deficiency (3) |LIG1|126391|19q13.2-q13.3 DNA topoisomerase I, camptothecin-resistant (3) |TOP1|126420|20q12-q13.1 DNA topoisomerase II, resistance to inhibition of, by amsacrine (3) |TOP2A, TOP2|126430|17q21-q22 Dandy-Walker malformation, 220200 (2) (?) |ZIC1|600470|3q24 Dandy-Walker malformation, 220200 (2) (?) |ZIC4|608948|3q24 Darier disease, 124200 (3) |ATP2A2, ATP2B, DAR|108740|12q23-q24.1 De Sanctis-Cacchione syndrome, 278800 (3) |ERCC6, CKN2, COFS1, CSB, ARMD5|609413|10q11 Deafness, X-linked 1 (2) |DFNX1, DFN2|304500|Xq22 Deafness, X-linked 1, progressive (3) |TIMM8A, DFN1, DDP, MTS, DDP1|300356|Xq22 Deafness, X-linked 2, 304400 (3) |POU3F4, DFN3, DFNX2|300039|Xq21.1 Deafness, X-linked 3 (2) |DFNX3, DFN4|300030|Xp21.2 Deafness, X-linked 4 (2) |DFNX4, DFN6|300066|Xp22 Deafness, X-linked 5 (2) |DFNX5, AUNX1|300614|Xq23-q27.3 Deafness, Y-linked 1 (1) |DFNY1|400043|Chr.Y Deafness, autosomal dominant 1, 124900 (3) |DIAPH1, DFNA1, LFHL1|602121|5q31 Deafness, autosomal dominant 10, 601316 (3) |EYA4, DFNA10, CMD1J|603550|6q23 Deafness, autosomal dominant 11, neurosensory, 601317 (3) |MYO7A, USH1B, DFNB2, DFNA11|276903|11q13.5 Deafness, autosomal dominant 12, 601842 (3) |TECTA, DFNA8, DFNA12, DFNB21|602574|11q22-q24 Deafness, autosomal dominant 13, 601868 (3) |COL11A2, STL3, DFNA13|120290|6p21.3 Deafness, autosomal dominant 15, 602459 (3) |POU4F3, BRN3C|602460|5q31 Deafness, autosomal dominant 16 (2) |DFNA16|603964|2q23-q24.3 Deafness, autosomal dominant 17, 603622 (3) |MYH9, MHA, FTNS, DFNA17|160775|22q11.2 Deafness, autosomal dominant 18 (2) |DFNA18|606012|3q22 Deafness, autosomal dominant 2, 600101 (3) |GJB3, CX31, DFNA2|603324|1p35.1 Deafness, autosomal dominant 2, 600101 (3) |KCNQ4, DFNA2|603537|1p34 Deafness, autosomal dominant 20/26, 604717 (3) |ACTG1, DFNA20, DFNA26|102560|17q25.3 Deafness, autosomal dominant 22, 606346 (3) |MYO6, DFNA22, DFNB37|600970|6q13 Deafness, autosomal dominant 23, 605192 (3) |SIX1, BOS3, DFNA23|601205|14q23 Deafness, autosomal dominant 24 (2) |DFNA24|606282|4q35-qter Deafness, autosomal dominant 25 (2) |DFNA25|605583|12q21-q24 Deafness, autosomal dominant 28, 608641 (3) |TFCP2L3, DFNA28|608576|8q22 Deafness, autosomal dominant 3, 601544 (3) |GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID|121011|13q11-q12 Deafness, autosomal dominant 3, 601544 (3) |GJB6, CX30, DFNA3, HED, ED2|604418|13q12 Deafness, autosomal dominant 30 (2) |DFNA30|606451|15q25-q26 Deafness, autosomal dominant 36, 606705 (3) |TMC1, DFNB7, DFNB11, DFNA36|606706|9q13-q21 Deafness, autosomal dominant 36, with dentinogenesis, 605594 (3) |DSPP, DPP, DGI1, DFNA39, DTDP2|125485|4q21.3 Deafness, autosomal dominant 4, 600652 (3) |MYH14, KIAA2034, DFNA4|608568|19q13.33 Deafness, autosomal dominant 40 (3) |CRYM, DFNA40|123740|16p13.11-p12.3 Deafness, autosomal dominant 41 (2) |DFNA41|608224|12q24.32-qter Deafness, autosomal dominant 44, 607453 (3) |CCDC50, C3orf6, DFNA44|611051|3q28 Deafness, autosomal dominant 49 (2) |DFNA49|608372|1q21-q23 Deafness, autosomal dominant 5, 600994 (3) |DFNA5|608798|7p15 Deafness, autosomal dominant 52 (2) |DFNA52|607683|4q28 Deafness, autosomal dominant 53 (2) |DFNA53|609965|14q11.2-q12 Deafness, autosomal dominant 7 (2) |DFNA7|601412|1q21-q23 Deafness, autosomal dominant 8, 601543 (3) |TECTA, DFNA8, DFNA12, DFNB21|602574|11q22-q24 Deafness, autosomal dominant 9, 601369 (3) |COCH, DFNA9|603196|14q12-q13 Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3) |MYO1A, DFNA48|601478|12q13-q15 Deafness, autosomal dominant, with peripheral neuropathy (3) |GJB3, CX31, DFNA2|603324|1p35.1 Deafness, autosomal recessive (3) |GJB3, CX31, DFNA2|603324|1p35.1 Deafness, autosomal recessive 1, 220290 (3) |GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID|121011|13q11-q12 Deafness, autosomal recessive 10, congenital, 605316 (3) |TMPRSS3, ECHOS1, DFNB8, DFNB10|605511|21q22.3 Deafness, autosomal recessive 12, 601386 (3) |CDH23, USH1D|605516|10q21-q22 Deafness, autosomal recessive 12, modifier of, 601386 (3) |ATP2B2, PMCA2|108733|3p26-p25 Deafness, autosomal recessive 13 (2) |DFNB13|603098|7q34-q36 Deafness, autosomal recessive 14 (2) |DFNB14|603678|7q31 Deafness, autosomal recessive 15 (2) |DFNB15|601869|3q Deafness, autosomal recessive 16, 603720 (3) |STRC, DFNB16|606440|15q15 Deafness, autosomal recessive 17 (2) |DFNB17|603010|7q31 Deafness, autosomal recessive 18, 602092 (3) |USH1C, DFNB18|605242|11p15.1 Deafness, autosomal recessive 2, neurosensory, 600060 (3) |MYO7A, USH1B, DFNB2, DFNA11|276903|11q13.5 Deafness, autosomal recessive 20 (2) |DFNB20|604060|11q25-qter Deafness, autosomal recessive 21, 603629 (3) |TECTA, DFNA8, DFNA12, DFNB21|602574|11q22-q24 Deafness, autosomal recessive 22, 607039 (3) |OTOA, DFNB22|607038|16p12.2 Deafness, autosomal recessive 23, 609533 (3) |PCDH15, DFNB23, USH1F|605514|10q21-q22 Deafness, autosomal recessive 26 (2) |DFNB26|605428|4q31 Deafness, autosomal recessive 27 (2) |DFNB27|605818|2q23-q31 Deafness, autosomal recessive 28, 609823 (3) |TRIOBP, KIAA1662|609761|22q13.1 Deafness, autosomal recessive 29 (3) |CLDN14, DFNB29|605608|21q22.3 Deafness, autosomal recessive 3, 600316 (3) |MYO15A, DFNB3|602666|17p11.2 Deafness, autosomal recessive 30, 607101 (3) |MYO3A, DFNB30|606808|10p11.1 Deafness, autosomal recessive 31, 607084 (3) |WHRN, CIP98, KIAA1526, DFNB31, USH2D|607928|9q32-q34 Deafness, autosomal recessive 33 (2) |DFNB33|607239|9q34.3 Deafness, autosomal recessive 35, 608565 (3) |ESRRB, ESRL2, DFNB35|602167|14q24.3 Deafness, autosomal recessive 36, 609006 (3) |ESPN|606351|1p36.3-p36.1 Deafness, autosomal recessive 37, 607821 (3) |MYO6, DFNA22, DFNB37|600970|6q13 Deafness, autosomal recessive 38 (2) |DFNB38|608219|6q26-q27 Deafness, autosomal recessive 39 (2) |DFNB39|608265|7q11.22-q21.12 Deafness, autosomal recessive 40 (2) |DFNB40|608264|22q11.21-q12.1 Deafness, autosomal recessive 44 (2) |DFNB44|610154|7p14.1-q11.22 Deafness, autosomal recessive 49, 610153 (3) |MARVELD2, MARVD2, TRIC, DFNB49|610572|5q13.1 Deafness, autosomal recessive 5 (2) |DFNB5|600792|14q12 Deafness, autosomal recessive 51 (2) |DFNB51|609941|11p13-p12 Deafness, autosomal recessive 55 (2) |DFNB55|609952|4q12-q13.2 Deafness, autosomal recessive 59, 610220 (3) |PJVK, DFNB59|610219|2q31.1-q31.3 Deafness, autosomal recessive 6, 600971 (3) |TMIE, DFNB6|607237|3p21 Deafness, autosomal recessive 61 (3) |PRES, DFNB61, SLC26A5|604943|7q22.1 Deafness, autosomal recessive 62 (2) |DFNB62|610143|12p13.2-p11.23 Deafness, autosomal recessive 63 (2) |DFNB63|611451|11q13.2-q13.3 Deafness, autosomal recessive 65 (2) |DFNB65|610248|20q13.2-q13.3 Deafness, autosomal recessive 66 (2) |DFNB66|610212|6p22.3-p21.2 Deafness, autosomal recessive 67, 610265 (3) |LHFPL5, TMHS, DFNB67|609427|6p21.3 Deafness, autosomal recessive 7, 600974 (3) |TMC1, DFNB7, DFNB11, DFNA36|606706|9q13-q21 Deafness, autosomal recessive 72 (2) |DFNB72|611918|19p13.3 Deafness, autosomal recessive 8, childhood onset, 601072 (3) |TMPRSS3, ECHOS1, DFNB8, DFNB10|605511|21q22.3 Deafness, autosomal recessive 9, 601071 (3) |OTOF, DFNB9, NSRD9|603681|2p23-p22 Deafness, autosomal recessive, 24, 611022 (3) |RDX, DFNB24|179410|11q23 Deafness, congenital heart defects, and posterior embryotoxon (3) |JAG1, AGS, AHD|601920|20p12 Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 (3) |FGF3, INT2|164950|11q13 Deafness, mitochondrial, modifier of, 580000 (3) |TRMU, MTO2, TRNT1|610230|22q13 Deafness, neurosensory, autosomal recessive 46 (2) |DFNB46|609647|18p11.32-p11.31 Deafness, neurosensory, autosomal recessive 47 (2) |DFNB47|609946|2p25.1-p24.3 Deafness, neurosensory, without vestibular involvement, autosomal dominant (3) |ESPN|606351|1p36.3-p36.1 Deafness, nonsyndromic (3) (?) |KIAA1199|608366|15q24 Deafness, nonsyndromic neurosensory, digenic (3) |GJB6, CX30, DFNA3, HED, ED2|604418|13q12 Deafness, sensorineural, autosomal-mitochondrial (2) |MDM1|221745|Chr.8 Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3) |MYO6, DFNA22, DFNB37|600970|6q13 Debrisoquine sensitivity (3) |CYP2D@, CYP2D, P450C2D|124030|22q13.1 Dehydrated hereditary stomatocytosis (2) |DHS|194380|16q23-q24 Dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema, 603528 (2) |DHS|194380|16q23-q24 Dejerine-Sottas disease, 145900 (3) |PMP22, CMT1A, CMT1E, DSS|601097|17p11.2 Dejerine-Sottas neuropathy, 145900 (3) |EGR2, KROX20|129010|10q21.1-q22.1 Dejerine-Sottas neuropathy, autosomal recessive, 145900 (3) |PRX, CMT4F|605725|19q13.1-q13.2 Dejerine-Sottas syndrome, 145900 (3) |MPZ, CMT1B, CMTDI3, CHM, DSS|159440|1q22 Dementia, Lewy body, 127750 (3) |SNCA, NACP, PARK1, PARK4|163890|4q21 Dementia, Lewy body, 127750 (3) |SNCB|602569|5q35 Dementia, familial British, 176500 (3) |ITM2B, BRI, ABRI, FBD|603904|13q14 Dementia, familial Danish, 117300 (3) |ITM2B, BRI, ABRI, FBD|603904|13q14 Dementia, familial, nonspecific, 600795 (3) |CHMP2B, DMT1, VPS2B|609512|3p11.2 Dementia, frontotemporal, 600274 (3) |PSEN1, AD3|104311|14q24.3 Dementia, frontotemporal, with or without parkinsonism, 600274 (3) |MAPT, MTBT1, DDPAC, MSTD|157140|17q21.1 Dent disease, 300009 (3) |CLCN5, CLCK2, NPHL2, DENTS, NPHL1|300008|Xp11.22 Dent syndrome, 300009 (3) |OCRL, LOCR, OCRL1, NPHL2|300535|Xq26.1 Dental anomalies, isolated (3) |RUNX2, CBFA1, PEBP2A1, AML3|600211|6p21 Dentatorubro-pallidoluysian atrophy, 125370 (3) |DRPLA|607462|12p13.31 Dentin dysplasia, type II, 125420 (3) |DSPP, DPP, DGI1, DFNA39, DTDP2|125485|4q21.3 Dentinogenesis imperfecta, Shields type II, 125490 (3) |DSPP, DPP, DGI1, DFNA39, DTDP2|125485|4q21.3 Dentinogenesis imperfecta, Shields type III, 125500 (3) |DSPP, DPP, DGI1, DFNA39, DTDP2|125485|4q21.3 Denys-Drash syndrome, 194080 (3) |WT1|607102|11p13 Dermatitis, atopic (2) |ATOD1|603165|3q21 Dermatitis, atopic, 4, 605805 (3) |SOCS3, SSI3, CIS3, ATOD4|604176|17q25.3 Dermatitis, atopic, 603165 (2) |ATOD3|605804|20p Dermatitis, atopic, 603165 (2) |ATOD5|605844|13q12-q14 Dermatitis, atopic, 603165 (2) |ATOD6|605845|5q31-q33 Dermatofibrosarcoma protuberans (3) |PDGFB, SIS|190040|22q12.3-q13.1 Dermatopathia pigmentosa reticularis, 125595 (3) |KRT14|148066|17q12-q21 Dermoids of cornea (2) |CND|304730|Xq24-qter Desbuquois syndrome (2) |DBQD|251450|17q25.3 Desmoid disease, hereditary, 135290 (3) |APC, GS, FPC, BTPS2|611731|5q21-q22 Desmosterolosis, 602398 (3) |DHCR24, KIAA0018|606418|1p33-p31.1 Developmental delay and recurrent infections (3) |TCBA1|609758|6q21 DiGeorge syndrome, 188400 (3) |TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR|602054|22q11.2 DiGeorge syndrome/velocardiofacial syndrome complex-2 (2) |DGCR2, DGS2|601362|10p14-p13 Diabetes insipidus, nephrogenic, 125800 (3) |AQP2|107777|12q13 Diabetes insipidus, nephrogenic, 304800 (3) |AVPR2, DIR, DI1, ADHR|300538|Xq28 Diabetes insipidus, neurohypophyseal, 125700 (3) |AVP, AVRP, VP|192340|20p13 Diabetes mellitus, gestational, 125851 (3) |GCK, HHF3|138079|7p15-p13 Diabetes mellitus, insulin-dependent, neonatal (2) (?) |PBCA|600089|Chr.6 Diabetes mellitus, insulin-resistant, with acanthosis nigricans and hypertension, 604367 (3) |PPARG, PPARG1, PPARG2|601487|3p25 Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3) |INSR, HHF5|147670|19p13.2 Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3) |GLIS3, ZNF515|610192|9p24.3-p23 Diabetes mellitus, noninsulin-dependent, 125853 (3) |ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2|600509|11p15.1 Diabetes mellitus, noninsulin-dependent, 125853 (3) |HNF1B, TCF2, HNF2, MODY5, FJHN, HPC11|189907|17q12 Diabetes mellitus, noninsulin-dependent, 2 (2) |NIDDM2|601407|12q24.2 Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3) |GCK, HHF3|138079|7p15-p13 Diabetes mellitus, permanent neonatal, 606176 (3) |ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2|600509|11p15.1 Diabetes mellitus, permanent neonatal, 606176 (3) |GCK, HHF3|138079|7p15-p13 Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069 (3) |PTF1A|607194|10p12.3 Diabetes mellitus, permanent neonatal, with neurologic features, 606176 (3), {Diabetes mellitus, type 2, susceptibility to}, 125853 (3) |KCNJ11, BIR, PHHI, HHF2, TNDM3|600937|11p15.1 Diabetes mellitus, rare form (1) |INS|176730|11p15.5 Diabetes mellitus, transient neonatal 2, 610374 (3) |ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2|600509|11p15.1 Diabetes mellitus, transient neonatal, 3, 610582 (3) |KCNJ11, BIR, PHHI, HHF2, TNDM3|600937|11p15.1 Diabetes mellitus, type II, 125853 (3) |AKT2|164731|19q13.1-q13.2 Diabetes, permanent neonatal, 606176 (3) |KCNJ11, BIR, PHHI, HHF2, TNDM3|600937|11p15.1 Diamond-blackfan anemia, 610629 (3) |RPS24, DBA3|602412|10q22-q23 Diaphragmatic hernia 3, 610187 (3) |ZFPM2, FOG2, DIH3|603693|8q23 Diaphyseal medullary stenosis with malignant fibrous histiocytoma (2) |DMSMFH, BDMF|112250|9p22-p21 Diastrophic dysplasia, 222600 (3) |SLC26A2, DTD, DTDST, D5S1708, EDM4|606718|5q32-q33.1 Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3) |SLC26A2, DTD, DTDST, D5S1708, EDM4|606718|5q32-q33.1 Dicarboxylicaminoaciduria, 222730 (1) (?) |SLC1A1, EAAC1|133550|9p24 Dihydropyrimidinuria (3) |DPYS, DHP|222748|8q22 Dilated cardiomyopathy with woolly hair and keratoderma, 605676 (3) |DSP, KPPS2, PPKS2|125647|6p24 Dimethylglycine dehydrogenase deficiency, 605850 (3) |DMGDH, DMGDHD|605849|5q12.2-q12.3 Diphenylhydantoin toxicity (1) |EPHX1|132810|1q42.1 Disorder of sex development, 46XY (3) |FTZF1, FTZ1, SF1|184757|9q33 Disordered steroidogenesis, isolated, 201750 (3) |POR|124015|7q11.2 Donnai-Barrow syndrome, 222448 (3) |LRP2, DBS|600073|2q24-q31 Dopamine beta-hydroxylase deficiency, 223360 (3) |DBH|609312|9q34 Dopamine receptor D2, reduced brain density of (3) |ANKK1|608774|11q23.2 Dosage-sensitive sex reversal, 300018 (3) |DAX1, AHC, AHX, NROB1|300473|Xp21.3-p21.2 Double-outlet right ventricle, 217095 (3) |CFC1, CRYPTIC, HTX2|605194|2q21.1 Double-outlet right ventricle, 217095 (3) |GDF1|602880|19p12 Dowling-Degos disease, 179850 (3) |KRT5, DDD|148040|12q13 Down syndrome (1) |DCR, DSCR|190685|21q22.3 Doyne honeycomb degeneration of retina, 126600 (3) |EFEMP1, FBNL, DHRD|601548|2p16 Duane retraction syndrome 2 (2) |DURS2|604356|2q31 Duane syndrome (2) |DURS1, DUS|126800|8q13 Duane-radial ray syndrome, 607323 (3) |SALL4, HSAL4|607343|20q13.13-q13.2 Dubin-Johnson syndrome, 237500 (3) |ABCC2, CMOAT|601107|10q24 Duchenne muscular dystrophy, 310200 (3) |DMD, BMD, CMD3B|300377|Xp21.2 Dupuytren contracture 1 (2) |DUPC1|126900|16q11.1-q22 Dyggve-Melchior-Clausen disease, 223800 (3) |DYM, FLJ90130, DMC, SMC|607461|18q12-q21.1 Dysautonomia, familial, 223900 (3) |IKBKAP, IKAP|603722|9q31 Dyschromatosis symmetrica hereditaria, 127400 (3) |ADAR, DRADA, DSH, DSRAD, IFI4, G1P1|601059|1q21.3 Dyschromatosis universalis hereditaria (2) |DUH|127500|6q24.2-q25.2 Dyserythropoietic anemia with thrombocytopenia, 300367 (3) |GATA1, GF1, ERYF1, NFE1|305371|Xp11.23 Dyserythropoietic anemia, congenital, type III (2) |CDAN3, CDA3|105600|15q21 Dysfibrinogenemia, alpha type, causing bleeding diathesis (3) |FGA|134820|4q28 Dysfibrinogenemia, alpha type, causing recurrent thrombosis (3) |FGA|134820|4q28 Dysfibrinogenemia, beta type (3) |FGB|134830|4q28 Dysfibrinogenemia, gamma type (3) |FGG|134850|4q28 Dyskeratosis congenita, 127550 (3) |TERT, TCS1, EST2|187270|5p15.33 Dyskeratosis congenita, autosomal dominant, 127550 (3) |TERC, TRC3, TR|602322|3q21-q28 Dyskeratosis congenita, autosomal dominant, 127550 (3) |TINF2, TIN2|604319|14q12 Dyskeratosis congenita, autosomal recessive, 224230 (3) |NOLA3, NOP10|606471|15q14-q15 Dyskeratosis congenita-1, 305000 (3) |DKC1, DKC|300126|Xq28 Dyskeratosis, hereditary benign intraepithelial (2) |DKBI|127600|4q35 Dysprothrombinemia (3) |F2|176930|11p11-q12 Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3) |HSPG2, PLC, SJS, SJA, SJS1|142461|1p36.1 Dystonia 13, torsion (2) |DYT13|607671|1p36.32-p36.13 Dystonia, early-onset atypical, with myoclonic features (3) |DYT1, TOR1A|605204|9q34 Dystonia, myoclonic (2) |DYT15|607488|18p11 Dystonia, myoclonic, 159900 (3) |DRD2|126450|11q23 Dystonia, myoclonic, 159900 (3) |SGCE, DYT11|604149|7q21 Dystonia, primary cervical (3) |DRD5, DRD1B, DRD1L2|126453|4p16.1-p15.3 Dystonia-1, torsion, 128100 (3) |DYT1, TOR1A|605204|9q34 Dystonia-12, 128235 (3) |ATP1A3, DYT12, RDP|182350|19q12-q13.2 Dystonia-5, DOPA-responsive, 128230 (3) |GCH1, DYT5|600225|14q22.1-q22.2 Dystonia-6, torsion (2) |DYT6|602629|8p21-q22 Dystonia-7, torsion (2) |DYT7|602124|18p Dystonia-Parkinsonism, X-linked, 314250 (3) |TAF1, TAF2A, CCG1, BA2R, DYT3|313650|Xq13 EBD, Bart type, 132000 (3) |COL7A1|120120|3p21.3 EBD, localisata variant (3) |COL7A1|120120|3p21.3 EEC syndrome-1 (2) (?) |EEC1|129900|7q11.2-q21.3 Ectodermal dysplasia 2, hidrotic, 129500 (3) |GJB6, CX30, DFNA3, HED, ED2|604418|13q12 Ectodermal dysplasia, 'pure' hair-nail type, 602032 (3) |KRT85, KRTHB5, HB5|602767|12q13 Ectodermal dysplasia, Margarita Island type, 225060 (3) |HVEC, PVRL1, PVRR1, PRR1, ED4, OFC7|600644|11q23-q24 Ectodermal dysplasia, anhidrotic, autosomal dominant, 129490 (3) |EDARADD, ED3, EDA3|606603|1q42.2-q43 Ectodermal dysplasia, anhidrotic, autosomal recessive, 224900 (3) |EDARADD, ED3, EDA3|606603|1q42.2-q43 Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency (3) |NFKBIA, IKBA|164008|14q13 Ectodermal dysplasia, hypohidrotic, autosomal dominant, 129490 (3) |EDAR, DL, ED3, EDA3|604095|2q11-q13 Ectodermal dysplasia, hypohidrotic, autosomal recessive, 224900 (3) |EDAR, DL, ED3, EDA3|604095|2q11-q13 Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291 (3) |IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1|300248|Xq28 Ectodermal dysplasia-1, anhidrotic, 305100 (3) |ED1, EDA, HED|300451|Xq12-q13.1 Ectodermal dysplasia/skin fragility syndrome, 604536 (3) |PKP1|601975|1q32 Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3) |IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1|300248|Xq28 Ectopia lentis, familial, 129600 (3) |FBN1, MFS1, WMS|134797|15q21.1 Ectopia pupillae, 129750 (3) |PAX6, AN2, MGDA|607108|11p13 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292 (3) |TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS, OFC8|603273|3q27 Ehlers-Danlos due to tenascin X deficiency, 606408 (3) |TNXB, TNX, TNXB1, TNXBS, TNXB2|600985|6p21.3 Ehlers-Danlos syndrome, cardiac valvular form, 225320 (3) |COL1A2|120160|7q22.1 Ehlers-Danlos syndrome, hypermobility type, 130020 (3) |TNXB, TNX, TNXB1, TNXBS, TNXB2|600985|6p21.3 Ehlers-Danlos syndrome, progeroid form, 130070 (3) |B4GALT7, XGALT1, XGPT1|604327|5q35.2-q35.3 Ehlers-Danlos syndrome, type I, 130000 (3) |COL1A1|120150|17q21.31-q22 Ehlers-Danlos syndrome, type I, 130000 (3) |COL5A1|120215|9q34.2-q34.3 Ehlers-Danlos syndrome, type I, 130000 (3) |COL5A2|120190|2q31 Ehlers-Danlos syndrome, type II, 130010 (3) |COL5A1|120215|9q34.2-q34.3 Ehlers-Danlos syndrome, type III, 130020 (3) |COL3A1|120180|2q31 Ehlers-Danlos syndrome, type IV, 130050 (3) |COL3A1|120180|2q31 Ehlers-Danlos syndrome, type VI, 225400 (3) |PLOD, PLOD1|153454|1p36.3-p36.2 Ehlers-Danlos syndrome, type VII, 130060 (3) |COL1A1|120150|17q21.31-q22 Ehlers-Danlos syndrome, type VIIB, 130060 (3) |COL1A2|120160|7q22.1 Ehlers-Danlos syndrome, type VIIC, 225410 (3) |ADAMTS2, NPI|604539|5q23 Ehlers-Danlos syndrome, type VIII (2) |EDS8|130080|12p13 Eiken syndrome, 600002 (3) |PTHR1, PTHR|168468|3p22-p21.1 Elliptocytosis-1, 611804 (3) |EPB41, EL1|130500|1p36.2-p34 Elliptocytosis-2, 130600 (3) |SPTA1|182860|1q21 Elliptocytosis-3 (3) |SPTB|182870|14q22-q23.2 Ellis-van Creveld syndrome, 225500 (3) |EVC|604831|4p16 Ellis-van Creveld syndrome, 225500 (3) |LBN, EVC2|607261|4p16 Emery-Dreifuss muscular dystrophy, 310300 (3) |EMD, EDMD, STA|300384|Xq28 Emery-Dreifuss muscular dystrophy, AD, 181350 (3) |LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B|150330|1q21.2 Emery-Dreifuss muscular dystrophy, AD, 181350 (3) |LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B|150330|1q21.2 Emery-Dreifuss muscular dystrophy, AR, 604929 (3) |LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B|150330|1q21.2 Emery-Dreifuss muscular dystrophy, AR, 604929 (3) |LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B|150330|1q21.2 Emphysema (3) |PI, AAT, SERPINA1|107400|14q32.1 Emphysema due to alpha-2-macroglobulin deficiency (1) |A2M|103950|12p13.3-p12.3 Emphysema-cirrhosis (3) |PI, AAT, SERPINA1|107400|14q32.1 Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3) |DNM1L, DRP1, DVLP, DYMPLE|603850|12p11.21 Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 (3) |SERPINI1, PI12|602445|3q26 Encephalopathy, neonatal severe, 300673 (3) |MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16|300005|Xq28 Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome c oxidase deficiency (3) |COX10|602125|17p12-p11.2 Enchondromatosis, Ollier type, 166000 (3) |PTHR1, PTHR|168468|3p22-p21.1 Endocardial fibroelastosis-2 (2) |TAZ, EFE2, BTHS, CMD3A, LVNCX|300394|Xq28 Endometrial cancer, familial, 608089 (3) |MSH6, GTBP, HNPCC5|600678|2p16 Endometrial carcinoma (2) |DEC|602084|10q26 Endometrial carcinoma (3) |CDH1, UVO, LCAM, ECAD|192090|16q22.1 Endometrial carcinoma (3) |MSH3|600887|5q11-q12 Endometrial carcinoma (3) |PTEN, MMAC1|601728|10q23.31 Endometrial stromal tumors (2) |JAZF1, TIP27|606246|7p15 Endometrial stromal tumors (2) |JJAZ1, KIAA0160|606245|17q11.2 Endotoxin hyporesponsiveness (3) |TLR4, ARMD10|603030|9q32-q33 Endplate acetylcholinesterase deficiency, 603034 (3) |COLQ, EAD|603033|3p25 Enhanced S-cone syndrome, 268100 (3) |NR2E3, PNR, ESCS|604485|15q23 Enlarged vestibular aqueduct, 600791 (3) |FOXI1, FKHL10, FREAC6|601093|5q34 Enlarged vestibular aqueduct, 603545 (3) |SLC26A4, PDS, DFNB4|605646|7q31 Enolase deficiency (1) |ENO1, PPH, MPB1|172430|1pter-p36.13 Enolase-beta deficiency (3) |ENO3|131370|17pter-p12 Enterokinase deficiency, 226200 (3) |PRSS7, ENTK|606635|21q21 Enuresis, nocturnal, 1 (2) |ENUR1|600631|13q13-q14.3 Enuresis, nocturnal, 2 (2) |ENUR2|600808|12q13-q21 Eosinophil peroxidase deficiency, 261500 (3) |EPX|131399|17q23.1 Eosinophilia, familial (2) |EOS|131400|5q31-q33 Epidermodysplasia verruciformis, 226400 (3) |EVER1, EV1|605828|17q25 Epidermodysplasia verruciformis, 226400 (3) |EVER2, EV2|605829|17q25 Epidermolysis bullosa dystrophica, AD, 131750 (3) |COL7A1|120120|3p21.3 Epidermolysis bullosa dystrophica, AR, 226600 (3) |COL7A1|120120|3p21.3 Epidermolysis bullosa inversa, junctional (2) |EBR2A|226450|1q31 Epidermolysis bullosa of hands and feet, 131800 (3) |ITGB4|147557|17q11-qter Epidermolysis bullosa pruriginosa, 604129 (3) |COL7A1|120120|3p21.3 Epidermolysis bullosa simplex with mottled pigmentation, 131960 (3) |KRT5, DDD|148040|12q13 Epidermolysis bullosa simplex, Koebner, Dowling-Meara, and Weber-Cockayne types, 131900, 131760, 131800 (3) |KRT14|148066|17q12-q21 Epidermolysis bullosa simplex, Koebner, Dowling-Meara, and Weber-Cockayne types, 131900, 131760, 131800 (3) |KRT5, DDD|148040|12q13 Epidermolysis bullosa simplex, Ogna type, 131950 (3) |PLEC1, PLTN, EBS1|601282|8q24 Epidermolysis bullosa simplex, recessive, 601001 (3) |KRT14|148066|17q12-q21 Epidermolysis bullosa, Herlitz junctional type, 226700 (3) |LAMB3|150310|1q32 Epidermolysis bullosa, Herlitz junctional type, 226700 (3) |LAMC2, LAMNB2, LAMB2T|150292|1q25-q31 Epidermolysis bullosa, generalized atrophic benign, 226650 (3) |COL17A1, BPAG2|113811|10q24.3 Epidermolysis bullosa, generalized atrophic benign, 226650 (3) |ITGB4|147557|17q11-qter Epidermolysis bullosa, generalized atrophic benign, 226650 (3) |LAMA3, LOCS|600805|18q11.2 Epidermolysis bullosa, generalized atrophic benign, 226650 (3) |LAMB3|150310|1q32 Epidermolysis bullosa, generalized atrophic benign, 226650 (3) |LAMC2, LAMNB2, LAMB2T|150292|1q25-q31 Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) |LAMA3, LOCS|600805|18q11.2 Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3) |ITGB4|147557|17q11-qter Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3) |ITGA6|147556|Chr.2 Epidermolysis bullosa, lethal acantholytic, 609638 (3) |DSP, KPPS2, PPKS2|125647|6p24 Epidermolysis bullosa, pretibial, 131850 (3) |COL7A1|120120|3p21.3 Epidermolytic hyperkeratosis, 113800 (3) |KRT10|148080|17q21-q22 Epidermolytic hyperkeratosis, 113800 (3) |KRT1|139350|12q13 Epidermolytic palmoplantar keratoderma, 144200 (3) |KRT9, EPPK|607606|17q12-q21 Epilepsy with grand mal seizures on awakening, 607628 (3) |CLCN2, EGMA, ECA3, EGI3|600570|3q26-qter Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3) |SYN1|313440|Xp11.4-p11.2 Epilepsy, benign neonatal, type 2, 121201 (3) |KCNQ3, EBN2, BFNC2|602232|8q24 Epilepsy, benign, neonatal, type 1, 121200 (3) |KCNQ2, EBN1|602235|20q13.3 Epilepsy, childhood absence, 1 (2) |ECA1|600131|8q24 Epilepsy, childhood absence, 2, 607681 (3) |GABRG2, GEFSP3, CAE2, ECA2|137164|5q31.1-q33.1 Epilepsy, childhood absence, 4, 611136 (3) |GABRA1, EJM, ECA4|137160|5q34-q35 Epilepsy, childhood absence, 607682 (3) |CLCN2, EGMA, ECA3, EGI3|600570|3q26-qter Epilepsy, childhood absence, evolving to juvenile myoclonic epilepsy (3) |JRK, JH8|603210|8q24 Epilepsy, familial mesial temporal lobe (2) |FMTLE, ETL3|611630|4q13.2-q21.3 Epilepsy, familial temporal lobe (2) |ETL2, FTLE|608096|12q22-q23.3 Epilepsy, female restricted, with mental retardation (2) |EFMR|300088|Xq22 Epilepsy, generalized idiopathic, 600669 (3) |CACNB4, EJM, EA5|601949|2q22-q23 Epilepsy, generalized, with febrile seizures plus, type 2, 604233 (3) |SCN1A, GEFSP2, SMEI, FEB3|182389|2q24 Epilepsy, generalized, with febrile seizures plus, type 3, 604233 (3) |GABRG2, GEFSP3, CAE2, ECA2|137164|5q31.1-q33.1 Epilepsy, generalized, with febrile seizures plus, type 4 (2) |GEFSP4|609800|2p24 Epilepsy, idiopathic generalized, susceptibility to 4 (2) |EIG4|609750|10q25-q26 Epilepsy, idiopathic generalized, susceptibility to, 5 (2) |EIG5|611934|10p11.22 Epilepsy, intractable childhood, with generalized tonic-clonic seizures, 607208 (3) |SCN1A, GEFSP2, SMEI, FEB3|182389|2q24 Epilepsy, juvenile absence, 607631 (3) |CLCN2, EGMA, ECA3, EGI3|600570|3q26-qter Epilepsy, juvenile absence, 607631 (3) |EFHC1, FLJ10466, EJM1, JAE|608815|6p12-p11 Epilepsy, juvenile myoclonic (2) |EJM2, JME|604827|15q14 Epilepsy, juvenile myoclonic 3 (2) |EJM3|608816|6p21 Epilepsy, juvenile myoclonic, 606904 (3) |CACNB4, EJM, EA5|601949|2q22-q23 Epilepsy, juvenile myoclonic, 606904 (3) |CLCN2, EGMA, ECA3, EGI3|600570|3q26-qter Epilepsy, juvenile myoclonic, 606904 (3) |GABRA1, EJM, ECA4|137160|5q34-q35 Epilepsy, myoclonic, Lafora type, 254780 (3) |EPM2A, MELF, EPM2|607566|6q24 Epilepsy, myoclonic, Lafora type, 254780 (3) |NHLRC1, EPM2A, EPM2B|608072|6p22.3 Epilepsy, myoclonic, benign adult familial (2) |BAFME1, MEBA, FAME|601068|8q24 Epilepsy, myoclonic, benign adult familial, type 2 (2) |BAFME2, ADCME, FAME|607876|2p11.1-q12.2 Epilepsy, myoclonic, infantile (2) |EIM|605021|16p13 Epilepsy, neonatal myoclonic, with suppression-burst pattern, 609304 (3) |SLC25A22, GC1|609302|11p15.5 Epilepsy, nocturnal frontal lobe, 1, 600513 (3) |CHRNA4, ENFL1|118504|20q13.2-q13.3 Epilepsy, nocturnal frontal lobe, 3, 605375 (3) |CHRNB2, EFNL3|118507|1q21 Epilepsy, nocturnal frontal lobe, type 2 (2) |ENFL2|603204|15q24 Epilepsy, nocturnal frontal lobe, type 4, 610353 (3) |CHRNA2|118502|8p21 Epilepsy, occipitotemporal lobe, and migraine with aura (2) |EPOLM|611631|9q21-q22 Epilepsy, partial, with auditory features, 600512 (3) |LGI1, EPT, ETL1|604619|10q24 Epilepsy, partial, with pericentral spikes (2) |EPPS|607221|4p15 Epilepsy, partial, with variable foci (2) |FPEVF|604364|22q11-q12 Epilepsy, progressive myoclonic 1, 254800 (3) |CSTB, STFB, EPM1|601145|21q22.3 Epilepsy, progressive myoclonic 2B, 254780 (3) |NHLRC1, EPM2A, EPM2B|608072|6p22.3 Epilepsy, progressive myoclonic 3, 611726 (3) |KCTD7, EPM3|611725|7q11.21 Epilepsy, pyridoxine-dependent, 107323 (3) |ALDH7A1, ATQ1, EPD, PDE|107323|5q31 Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp (2) |EPRPDC|608105|16p12-p11.2 Epilepsy, severe myoclonic, of infancy, 607208 (3) |SCN1A, GEFSP2, SMEI, FEB3|182389|2q24 Epileptic encephalopathy, Lennox-Gastaut type, 606369 (3) |MAPK10, PRKM10, JNK3|602897|4q21.3 Epiphyseal dysplasia, multiple 1, 132400 (3) |COMP, EDM1, MED, PSACH|600310|19p13.1 Epiphyseal dysplasia, multiple, 2, 600204 (3) |COL9A2, EDM2|120260|1p33-p32.2 Epiphyseal dysplasia, multiple, 3, 600969 (3) |COL9A3, EDM3, IDD|120270|20q13.3 Epiphyseal dysplasia, multiple, 4, 226900 (3) |SLC26A2, DTD, DTDST, D5S1708, EDM4|606718|5q32-q33.1 Epiphyseal dysplasia, multiple, 5, 607078 (3) |MATN3, EDM5, HOA|602109|2p24-p23 Epiphyseal dysplasia, multiple, 6 (3) |COL9A1, EDM6|120210|6q13 Epiphyseal dysplasia, multiple, with myopathy (3) |COL9A3, EDM3, IDD|120270|20q13.3 Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3) |COL2A1|120140|12q13.11-q13.2 Episodic ataxia, type 2, 108500 (3) |CACNA1A, CACNL1A4, SCA6|601011|19p13 Episodic ataxia, type 3 (2) |EA3|606554|1q42 Episodic ataxia, type 5 (3) |CACNB4, EJM, EA5|601949|2q22-q23 Episodic ataxia, type 6 (3) |SLC1A3, EAAT1, EA6|600111|5p13 Episodic ataxia, type 7 (2) |EA7|611907|19q13 Episodic ataxia/myokymia syndrome, 160120 (3) |KCNA1, AEMK, EA1|176260|12p13 Episodic kinesigenic dyskinesia 2 (2) |EKD2|611031|16q13-q22.1 Episodic muscle weakness, X-linked (2) |EMWX|300211|Xp22.3 Epithelial ovarian cancer, somatic, 604370 (3) |OPCML|600632|11q25 Epithelioma, self-healing, squamous 1, Ferguson-Smith type (2) |MSSE, ESS1|132800|9q31 Epstein syndrome, 153650 (3) |MYH9, MHA, FTNS, DFNA17|160775|22q11.2 Erythermalgia, primary, 133020 (3) |SCN9A, NENA, PN1|603415|2q24 Erythremia (1) (?) |EPO|133170|7q21 Erythremias, alpha- (3) |HBA1|141800|16pter-p13.3 Erythremias, beta- (3) |HBB|141900|11p15.5 Erythrocyte lactate transporter defect, 245340 (3) |SLC16A1, MCT1|600682|1p13.2-p12 Erythrocytosis (3) |HBA2|141850|16pter-p13.3 Erythrocytosis, familial, 3, 609820 (3) |EGLN1, PHD2, HIFPH2, C1orf12, ZMYND6, SM20, ECYT3|606425|1q42-q43 Erythrocytosis, familial, 4, 611783 (3) |EPAS1, MOP2, HIF2A, ECYT4|603349|2p21-p16 Erythrokeratoderma, progressive symmetric, 602036 (3) |LOR|152445|1q21 Erythrokeratodermia variabilis with erythema gyratum repens, 133200 (3) |GJB4, CX30.3|605425|1p35.1 Erythrokeratodermia variabilis, 133200 (3) |GJB3, CX31, DFNA2|603324|1p35.1 Escobar syndrome, 265000 (3) |CHRNG, ACHRG|100730|2q33-q34 Esophageal cancer, 133239 (1) |DLEC1, DLC1|604050|3p22-p21.3 Esophageal cancer, 133239 (3) |TGFBR2, HNPCC6, AAT3, MFS2, LDS1B, LDS2B|190182|3p22 Esophageal carcinoma, somatic, 133239 (3) |RNF6|604242|13q12.11 Esophageal squamous cell carcinoma, 133239 (1) |DEC1|604767|9q32 Esophageal squamous cell carcinoma, 133239 (3) |LZTS1, F37, FEZ1|606551|8p22 Esophageal squamous cell carcinoma, 133239 (3) |WWOX, FOR|605131|16q23.3-q24.1 Estrogen resistance (3) |ESR1, ESR|133430|6q25.1 Ethylmalonic encephalopathy, 602473 (3) |ETHE1, HSCO, D83198|608451|19q13.32 Ewing sarcoma (3) |EWSR1, EWS|133450|22q12 Exertional myoglobinuria due to deficiency of LDH-A (3) |LDHA, LDH1|150000|11p15.4 Exfoliative ichthyosis, autosomal recessive (2) |AREI|607936|12q13 Exostoses, multiple, type 1, 133700 (3) |EXT1|608177|8q24.11-q24.13 Exostoses, multiple, type 2, 133701 (3) |EXT2|608210|11p12-p11 Exostoses, multiple, type 3 (2) |EXT3|600209|19p Exudative vitreoretinopathy 4, 601813 (3) |LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4|603506|11q13.4 Exudative vitreoretinopathy, 133780 (3) |FZD4, EVR1|604579|11q14-q21 Exudative vitreoretinopathy, X-linked, 305390 (3) |NDP, ND|310600|Xp11.4 Exudative vitreoretinopathy-3 (2) |EVR3|605750|11p13-p12 Eye anomalies, multiplex (3) |PAX6, AN2, MGDA|607108|11p13 FG syndrome 1 (2) |FGS1|305450|Xq12-q21.31 FG syndrome 2 (2) |FGS2|300321|Xq28 FG syndrome 3 (2) |FGS3|300406|Xp22.3 FG syndrome 4 (2) |FGS4|300422|Xp11.4-p11.3 FG syndrome 5 (2) |FGS5|300581|Xq22.3 Fabry disease, 301500 (3) |GLA|300644|Xq22 Fabry disease, cardiac variant, 301500 (3) |GLA|300644|Xq22 Facial paresis, hereditary congenital, 1 (2) |HCFP1, MBS2|601471|3q21-q22 Facioscapulohumeral muscular dystrophy-1A (3) |FSHMD1A, FSHD1A|158900|4q35 Factor H and factor H-like 1 , 609814 (3) |HF1, CFH, HUS, ARMD4|134370|1q32 Factor V and factor VIII, combined deficiency of, 227300 (3) |MCFD2|607788|2p21-p16.3 Factor VII deficiency (3) |F7|227500|13q34 Factor X deficiency (3) |F10|227600|13q34 Factor XI deficiency, autosomal dominant (3) |F11|264900|4q35 Factor XI deficiency, autosomal recessive (3) |F11|264900|4q35 Factor XII deficiency, 234000 (3) |F12, HAF, HAE3|610619|5q33-qter Factor XIIIA deficiency (3) |F13A1, F13A|134570|6p25-p24 Factor XIIIB deficiency (3) |F13B|134580|1q31-q32.1 Faisalabad histiocytosis (2) |HJCD|602782|11q25 Familial Mediterranean fever, 249100 (3) |MEFV, MEF, FMF|608107|16p13 Familial cold autoinflammatory syndrome 2, 611762 (3) |NALP12, PYPAF7, RNO, FCAS2|609648|19q13.4 Fanconi anemia, complementation group A, 227650 (3) |FANCA, FACA, FA1, FA, FAA|607139|16q24.3 Fanconi anemia, complementation group B, 300514 (3) |FAAP95, FAAP90, FLJ34064, FANCB|300515|Xp22.31 Fanconi anemia, complementation group C (3) |FANCC, FACC|227645|9q22.3 Fanconi anemia, complementation group D1, 605724 (3) |BRCA2, FANCD1|600185|13q12.3 Fanconi anemia, complementation group D2 (3) |FANCD2, FANCD, FACD, FAD|227646|3p25.3 Fanconi anemia, complementation group E (3) |FANCE, FACE|600901|6p22-p21 Fanconi anemia, complementation group F (3) |FANCF|603467|11p15 Fanconi anemia, complementation group G (3) |XRCC9, FANCG|602956|9p13 Fanconi anemia, complementation group I, 608053 (3) |FANCI, KIAA1794|611360|15q25-q26 Fanconi anemia, complementation group J, 609054 (3) |BRIP1, BACH1, FANCJ|605882|17q22 Fanconi anemia, complementation group L (3) |PHF9, FANCL|608111|2p16.1 Fanconi anemia, complementation group M (3) |FANCM, KIAA1596|609644|14q21.3 Fanconi anemia, complementation group N, 610832 (3) |PALB2, FANCN|610355|16p12 Fanconi renotubular syndrome (2) |FRTS, RFS|134600|15q15.3 Fanconi-Bickel syndrome, 227810 (3) |SLC2A2, GLUT2|138160|3q26.1-q26.3 Farber lipogranulomatosis (3) |ASAH, AC|228000|8p22-p21.3 Fatty liver, acute, of pregnancy, 609016 (3) |HADHA, MTPA|600890|2p23 Favism (3) |G6PD, G6PD1|305900|Xq28 Febrile convulsions, familial, 3, 604403 (3) |SCN1A, GEFSP2, SMEI, FEB3|182389|2q24 Febrile convulsions, familial, 5 (2) |FEB5|609255|6q22-q24 Febrile convulsions, familial, 6 (2) |FEB6|609253|18p11.2 Febrile convulsions, familial, 8, 611277 (3) |GABRG2, GEFSP3, CAE2, ECA2|137164|5q31.1-q33.1 Febrile convulsions, familial, 9 (2) |FEB9|611634|3p24.2-p23 Fechtner syndrome, 153640 (3) |MYH9, MHA, FTNS, DFNA17|160775|22q11.2 Feingold syndrome, 164280 (3) |MYCN, NMYC, ODED, MODED|164840|2p24.1 Fertile eunuch syndrome, 228300 (3) |GNRHR, LHRHR|138850|4q21.2 Fetal akinesia deformation sequence, 208150 (3) |RAPSN, CMS1D, CMS1E|601592|11p11.2-p11.1 Fetal hemoglobin quantitative trait locus 1, 141749 (3) |HBG1|142200|11p15.5 Fetal hemoglobin quantitative trait locus 1, 141749 (3) |HBG2|142250|11p15.5 Fetal hemoglobin quantitative trait locus 2 (2) |HBFQTL2, FCP|142470|6q22.3-q23.1 Fetal hemoglobin quantitative trait locus 3 (2) |HBFQTL3, FCP1, FCPX, FCP|305435|Xp22.2 Fetal hemoglobin quantitative trait locus 4 (2) |HBFQTL4|606789|8q Fetal hemoglobin quantitative trait locus 5, 142335 (3) |BCL11A, CTIP1, EVI9, KIAA1809, HBFQTL5|606557|2p13 Fetal hydantoin syndrome (1) (?) |EPHX1|132810|1q42.1 Fibrodysplasia ossificans progressiva, 135100 (3) |ACVR1, ACVRLK2, ALK2, FOP|102576|2q23-q24 Fibromatosis, gingival, 135300 (3) |SOS1, GINGF, GF1, HGF, NS4|182530|2p22-p21 Fibromatosis, gingival, 2, 135300 (2) |GINGF2, GGF2, HGF2|605544|5q13-q22 Fibromatosis, gingival, 3 (2) |GINGF3, HGF3, GGF3|609955|2p23.3-p22.3 Fibromatosis, gingival, 4 (2) |GINGF4, HGF4, GGF4|611010|11p15 Fibromatosis, juvenile hyaline, 228600 (3) |ANTXR2, CMG2, JHF, ISH|608041|4q21 Fibrosis of extraocular muscles, congenital, 1, 135700 (3) |KIF21A, KIAA1708, FEOM1, CFEOM1|608283|12q12 Fibrosis of extraocular muscles, congenital, 2, 602078 (3) |PHOX2A, ARIX, CFEOM2|602753|11q13.3-q13.4 Fibrosis of extraocular muscles, congenital, 3 (2) |FEOM3|600638|16q24.2-q24.3 Fibrosis of extraocular muscles, congenital, 3A (2) |FEOM3A|607034|12p11.2-q12 Fibrosis, congenital, of vertically acting extraocular muscles (2) |FEOM3|600638|16q24.2-q24.3 Fibular hypoplasia and complex brachydactyly, 228900 (3) |GDF5, CDMP1, SYNS2|601146|20q11.2 Fish-eye disease, 136120 (3) |LCAT|606967|16q22.1 Fitzgerald factor deficiency (3) |KNG|228960|3q27 Fletcher factor deficiency (1) |KLKB1, KLK3|229000|4q35 Focal cortical dysplasia, Taylor balloon cell type, 607341 (3) |TSC1, LAM|605284|9q34 Focal dermal hypoplasia, 305600 (3) |PORCN, PORC, DHOF, FODH|300651|Xp11.23 Follicle-stimulating hormone deficiency, isolated, 229070 (3) |FSHB|136530|11p13 Forebrain defects (3) |TDGF1|187395|3p23-p21 Foveal hypoplasia and anterior segment dysgenesis (2) |FHASD|609218|16q23.2-q24.2 Foveal hypoplasia, isolated, 136520 (3) |PAX6, AN2, MGDA|607108|11p13 Foveomacular dystrophy, adult-onset, with choroidal neovascularization, 608161 (3) |RDS, RP7, PRPH2, PRPH, AVMD, AOFMD|179605|6p21.1-cen Fragile X syndrome, 300624 (3) |FMR1, FRAXA|309550|Xq27.3 Fragile X tremor/ataxia syndrome, 300623 (3) |FMR1, FRAXA|309550|Xq27.3 Fraser syndrome, 219000 (3) |FRAS1|607830|4q21 Fraser syndrome, 219000 (3) |FREM2|608945|13q13.3 Frasier syndrome, 136680 (3) |WT1|607102|11p13 Friedreich ataxia with retained reflexes, 229300 (3) |FXN, FRDA, FARR, X25|606829|9q13 Friedreich ataxia, 229300 (2) |FRDA2|601992|9p23-p11 Friedreich ataxia, 229300 (3) |FXN, FRDA, FARR, X25|606829|9q13 Frontometaphyseal dysplasia, 304120 (3) |FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS|300017|Xq28 Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 (3) |GRN|138945|17q21.32 Fructose intolerance (3) |ALDOB|229600|9q22.3 Fructose-1,6-bidphosphatase deficiency, 229700 (3) |FBP1|611570|9q22.2-q22.3 Fuchs endothelial corneal dystrophy, 136800 (3) |COL8A2, FECD, PPCD2|120252|1p34.3-p32.3 Fucosidosis (3) |FUCA1|230000|1p34 Fucosyltransferase-6 deficiency (3) |FUT6|136836|19p13.3 Fuhrmann syndrome, 228930 (3) |WNT7A|601570|3p25 Fumarase deficiency, 606812 (3) |FH|136850|1q42.1 Fundus albipunctatus, 136880 (3) |RDH5|601617|12q13-q14 Fundus albipunctatus, 136880 (3) |RLBP1|180090|15q26 Fundus flavimaculatus, 248200 (3) |ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2|601691|1p21-p13 G6PD deficiency (3) |G6PD, G6PD1|305900|Xq28 GABA-transaminase deficiency (3) |ABAT, GABAT|137150|16p13.3 GAMT deficiency (3) |GAMT|601240|19p13.3 GM1-gangliosidosis, type I, 230500 (3) |GLB1|611458|3p21.33 GM1-gangliosidosis, type II, 230600 (3) |GLB1|611458|3p21.33 GM1-gangliosidosis, type III, 230650 (3) |GLB1|611458|3p21.33 GM2-gangliosidosis, AB variant (3) |GM2A|272750|5q31.3-q33.1 GM2-gangliosidosis, several forms, 272800 (3) |HEXA, TSD|606869|15q23-q24 GRACILE syndrome, 603358 (3) |BCS1L, FLNMS, GRACILE, BJS, PTD|603647|2q33 Galactokinase deficiency with cataracts, 230200 (3) |GALK1|604313|17q24 Galactose epimerase deficiency, 230350 (3) |GALE|606953|1p36-p35 Galactosemia, 230400 (3) |GALT|606999|9p13 Galactosialidosis (3) |PPGB, GSL, NGBE, GLB2, CTSA|256540|20q13.1 Gallbladder disease 1, 600803 (3) |ABCB4, PGY3, MDR3|171060|7q21.1 Gallbladder disease 2 (2) |GDB2|609918|1p36.21 Gallbladder disease 3 (2) |GDB2|609919|1p34.3 Gardner syndrome (3) |APC, GS, FPC, BTPS2|611731|5q21-q22 Gastric cancer, 137215 (3) |IRF1, MAR|147575|5q31.1 Gastric cancer, familial diffuse, 137215 (3) |CDH1, UVO, LCAM, ECAD|192090|16q22.1 Gastric cancer, somatic, 137215 (3) |APC, GS, FPC, BTPS2|611731|5q21-q22 Gastric cancer, somatic, 137215 (3) |CASP10, MCH4, ALPS2|601762|2q33-q34 Gastric cancer, somatic, 137215 (3) |ERBB2, NGL, NEU, HER2|164870|17q21.1 Gastric cancer, somatic, 137215 (3) |FGFR2, BEK, CFD1, JWS|176943|10q26 Gastric cancer, somatic, 137215 (3) |KLF6, COPEB, BCD1, ZF9|602053|10p15 Gastric cancer, somatic, 137215 (3) |MUTYH, MYH|604933|1p34.3-p32.1 Gastric cancer, somatic, 137215 (3) |PIK3CA|171834|3q26.3 Gastroesophageal reflux (2) |GER|109350|13q14 Gastrointestinal stromal tumor, somatic, 606764 (3) |KIT, PBT|164920|4q12 Gastrointestinal stromal tumor, somatic, 606764 (3) |PDGFRA|173490|4q12 Gaucher disease, atypical, 610539 (3) |PSAP, SAP1|176801|10q22.1 Gaucher disease, perinatal lethal, 608013 (3) |GBA|606463|1q21 Gaucher disease, type I, 230800(3) |GBA|606463|1q21 Gaucher disease, type II, 230900 (3) |GBA|606463|1q21 Gaucher disease, type III, 231000 (3) |GBA|606463|1q21 Gaucher disease, type IIIC, 231005 (3) |GBA|606463|1q21 Gaze palsy, horizontal, with progressive scoliosis, 607313 (3) |ROBO3, RBIG1, RIG1, HGPPS|608630|11q23-q25 Generalized epilepsy and paroxysmal dyskinesia, 609446 (3) |KCNMA1, SLO|600150|10q22.3 Generalized epilepsy with febrile seizures plus, 604233 (3) |SCN1B, GEFSP1|600235|19q13.1 Geniospasm (2) |GSM1, GSP|190100|9q13-q21 Germ cell tumor (3) |BCL10|603517|1p22 Germ cell tumors, 273300 (3) |KIT, PBT|164920|4q12 Gerstmann-Straussler disease, 137440 (3) |PRNP, PRIP|176640|20pter-p12 Ghosal syndrome, 231095 (3) |TBXAS1, GHOSAL, CYP5|274180|7q34 Giant axonal neuropathy-1, 256850 (3) |GAN, GAN1|605379|16q24.1 Giant platelet disorder, isolated (3) |GP1BB|138720|22q11.2 Giant-cell fibroblastoma (3) |PDGFB, SIS|190040|22q12.3-q13.1 Gigantism due to GHRF hypersecretion (1) |GHRH, GHRF|139190|20q11.2 Gitelman syndrome, 263800 (3) |SLC12A3, NCCT, TSC|600968|16q13 Glanzmann thrombasthenia, type A, 273800 (3) |ITGA2B, GP2B, CD41B|607759|17q21.32 Glanzmann thrombasthenia, type B (3) |ITGB3, GP3A|173470|17q21.32 Glaucoma 1, open angle, E, 137760 (3) |OPTN, GLC1E, FIP2, HYPL, NRP|602432|10p15-p14 Glaucoma 1, open angle, G, 609887 (3) |WDR36, TAWDRP, GLC1G|609669|5q21.3-q22.1 Glaucoma 1, open angle, I (2) |GLC1I|609745|15q11-q13 Glaucoma 1, open angle, M (2) |GLC1M|610535|5q22.1-q32 Glaucoma 1A, primary open angle, juvenile-onset, 137750 (3) |MYOC, TIGR, GLC1A, JOAG, GPOA|601652|1q24.3-q25.2 Glaucoma 1A, primary open angle, recessive (3) |MYOC, TIGR, GLC1A, JOAG, GPOA|601652|1q24.3-q25.2 Glaucoma 1B, primary open angle, adult onset, 137760 (2) |GLC1B|606689|2cen-q13 Glaucoma 1C, primary open angle (2) |GLC1C|601682|3q21-q24 Glaucoma 1D, primary open angle (2) |GLC1D|602429|8q23 Glaucoma 1F (2) |GLC1F|603383|7q35-q36 Glaucoma 1K, primary open angle, juvenile-onset (2) |GLC1K, JOAG3|608696|20p12 Glaucoma 3, primary infantile, B (2) |GLC3B|600975|1p36.2-p36.1 Glaucoma 3A, primary congenital, 231300 (3) |CYP1B1, GLC3A|601771|2p22-p21 Glaucoma, early-onset, digenic (3) |CYP1B1, GLC3A|601771|2p22-p21 Glaucoma, early-onset, digenic (3) |MYOC, TIGR, GLC1A, JOAG, GPOA|601652|1q24.3-q25.2 Glaucoma, primary open angle, adult-onset, 137760 (3) |CYP1B1, GLC3A|601771|2p22-p21 Glaucoma, primary open angle, juvenile-onset, 137750 (3) |CYP1B1, GLC3A|601771|2p22-p21 Glaucoma, primary open angle, juvenile-onset, 2 (2) |JOAG2|608695|9q22 Glioblastoma multiforme, somatic, 137800 (3) |DMBT1|601969|10q25.3-q26.1 Glioblastoma, 137800 (2) |WDR11, DR11, KIAA1351|606417|10q26 Glioblastoma, somatic, 137800 (3) |ERBB2, NGL, NEU, HER2|164870|17q21.1 Glioblastoma, somatic, 137800 (3) |LGI1, EPT, ETL1|604619|10q24 Glioma (1) |YEATS4, GAS41|602116|12q13-q15 Glioma, high-grade, 137800 (1) |RTE1|608045|10p15.1 Gliosis, familial progressive subcortical (2) |GPSC|221820|17q21-q22 Globozoospermia, 102530 (1) (?) |GOPC, PIST, FIG, CAL|606845|6q21 Globozoospermia, 102530 (3) |SPATA16|609856|3q26.3 Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 (3) |UMOD, HNFJ, FJHN, MCKD2, ADMCKD2|191845|16p12.3 Glomerulopathy with fibronectin deposits 1 (2) |GFND1|601894|1q32 Glomerulopathy with fibronectin deposits 2, 601894 (3) |FN1, FN, LETS, FNZ, GFND2|135600|2q34 Glomerulosclerosis, focal segmental, 1, 603278 (3) |ACTN4, FSGS1, FSGS|604638|19q13 Glomerulosclerosis, focal segmental, 2, 603965 (3) |TRPC6, TRP6, FSGS2|603652|11q21-q22 Glomerulosclerosis, focal segmental, 3, 607832 (3) |CD2AP, CMS|604241|Chr.6 Glomuvenous malformations, 138000 (3) |GLML, GVM, VMGLOM|601749|1p22-p21 Glucocorticoid deficiency 2, 607398 (3) |MRAP, FALP, C21orf61, GCCD2, FGD2|609196|21q22.1 Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3) |MC2R|607397|18p11.2 Glucose transport defect, blood-brain barrier, 606777 (3) |SLC2A1, GLUT1|138140|1p35-p31.3 Glucose/galactose malabsorption, 606824 (3) |SLC5A1, SGLT1|182380|22q13.1 Glucosidase I deficiency, 606056 (3) |GCS1|601336|2p13-p12 Glutamate formiminotransferase deficiency, 229100 (3) |FTCD|606806|21q22.3 Glutamine deficiency, congenital, 610015 (3) |GLUL, GLNS|138290|1q31 Glutaricaciduria, type I, 231670 (3) |GCDH|608801|19p13.2 Glutaricaciduria, type IIA, 231680 (3) |ETFA, GA2, MADD|608053|15q23-q25 Glutaricaciduria, type IIB, 231680 (3) |ETFB, MADD|130410|19q13.3 Glutaricaciduria, type IIC, 231680 (3) |ETFDH, MADD|231675|4q32-qter Glutathione synthetase deficiency, 266130 (3) |GSS, GSHS|601002|20q11.2 Glutathioninuria (1) |GGT1, GTG|231950|22q11.1-q11.2 Glycerol kinase deficiency, 307030 (3) |GK|300474|Xp21.3-p21.2 Glycine N-methyltransferase deficiency, 606664 (3) |GNMT|606628|6p12 Glycine encephalopathy, 605899 (3) |AMT, NKH, GCE|238310|3p21.2-p21.1 Glycine encephalopathy, 605899 (3) |GCSH, NKH|238330|16q24 Glycine encephalopathy, 605899 (3) |GLDC, HYGN1, GCSP, GCE, NKH|238300|9p22 Glycogen storage disease 0, muscle, 611556 (3) |GYS1, GYS|138570|19q13.3 Glycogen storage disease I (3) |G6PC, G6PT|232200|17q21 Glycogen storage disease II, 232300 (3) |GAA|606800|17q25.2-q25.3 Glycogen storage disease IIIa, 232400 (3) |AGL, GDE|610860|1p21 Glycogen storage disease IIIb, 232400 (3) |AGL, GDE|610860|1p21 Glycogen storage disease IIb, 300257 (3) |LAMP2, LAMPB|309060|Xq24 Glycogen storage disease IV, 232500 (3) |GBE1|607839|3p12 Glycogen storage disease Ib, 232220 (3) |G6PT1|602671|11q23 Glycogen storage disease Ic, 232240 (3) |G6PT1|602671|11q23 Glycogen storage disease Ic, 232240 (3) (?) |SLC17A3, NPT4|611034|6p21.3 Glycogen storage disease VI (3) |PYGL|232700|14q21-q22 Glycogen storage disease VII, 232800 (3) |PFKM, GSD7|610681|12q13.3 Glycogen storage disease, type 0, 240600 (3) |GYS2|138571|12p12.2 Glycogenosis, X-linked hepatic, type I (3) |PHKA2, PHK|306000|Xp22.2-p22.1 Glycogenosis, X-linked hepatic, type II (3) |PHKA2, PHK|306000|Xp22.2-p22.1 Glycogenosis, hepatic, autosomal (3) |PHKG2|172471|16p12.1-p11.2 Glycoprotein Ia deficiency (1) (?) |ITGA2, CD49B, BR|192974|5q23-q31 Glycosylphosphatidylinositol deficiency, 610293 (3) |PIGM|610273|1q23.2 Gnthodiaphyseal dysplasia, 166260 (3) |TMEM16E, GDD1|608662|11p14.3 Goeminne TKCR syndrome (2) |TKCR, TKC|314300|Xq28 Goiter, adolescent multinodular (1) |TG, AITD3|188450|8q24.2-q24.3 Goiter, congenital (3) |TPO, TPX|606765|2p25 Goiter, familial, due to TTF-1 defect (1) |NKX2-1, TITF1, NKX2A, TTF1|600635|14q13 Goiter, multinodular, 1 (2) |MNG1|138800|14q Goiter, multinodular, 2 (2) |MNG2|300273|Xp22 Goiter, multinodular, 3 (2) |MNG3|606082|3q26.1-q26.3 Goiter, nonendemic, simple (3) |TG, AITD3|188450|8q24.2-q24.3 Golabi-Ito-Hall syndrome (3) |PQBP1, NPW38, SHS, MRX55, MRXS3, RENS1, MRXS8|300463|Xp11.23 Goldberg-Shprintzen megacolon syndrome, 609460 (3) |KIAA1279|609367|10q22.1 Gonadal dysgenesis, 46XY, partial, with minifascicular neuropathy, 607080 (3) |DHH|605423|12q13.1 Gonadal dysgenesis, XY female type (2) |GDXY, TDFX, SRVX|306100|Xp22.11-p21.2 Gonadal dysgenesis, XY type (2) |GDXYM|233420|5cen Gonadal dysgenesis, XY type (3) |SRY, TDF|480000|Yp11.3 Gout, PRPS-related, 300661 (3) |PRPS1, CMTX5|311850|Xq22-q24 Greenberg dysplasia, 215140 (3) |LBR, PHA|600024|1q42.1 Greig cephalopolysyndactyly syndrome, 175700 (3) |GLI3, PAPA, PAPB, ACLS|165240|7p13 Griscelli syndrome, type 1, 214450 (3) |MYO5A, MYH12, GS1|160777|15q21 Griscelli syndrome, type 2, 607624 (3) |RAB27A, RAM, GS2|603868|15q21 Griscelli syndrome, type 3, 609227 (3) |MLPH|606526|2q37 Growth hormone deficiency (3) |GH1, GHN|139250|17q22-q24 Growth hormone deficiency, isolated, type IA, 262400 (3) |GH1, GHN|139250|17q22-q24 Growth hormone deficiency, isolated, type IB, 262400 (3) |GH1, GHN|139250|17q22-q24 Growth hormone deficiency, isolated, type II, 173100 (3) |GH1, GHN|139250|17q22-q24 Growth hormone deficient dwarfism (3) |GHRHR|139191|7p15-p14 Growth hormone insensitivity with immunodeficiency, 245590 (3) |STAT5B|604260|17q11.2 Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 (3) |IGF1|147440|12q22-q24.1 Gustavson syndrome (2) |GUST|309555|Xq26 Guttmacher syndrome, 176305 (3) |HOXA13, HOX1J|142959|7p15-p14.2 Gyrate atrophy of choroid and retina with ornithinemia, B6 responsive or unresponsive (3) |OAT|258870|10q26 HARP syndrome, 607236 (3) |PANK2, NBIA1, PKAN, HARP|606157|20p13-p12.3 HDL deficiency, type 2, 604091 (3) |ABCA1, ABC1, HDLDT1, TGD|600046|9q22-q31 HELLP syndrome, maternal, of pregnancy, 609016 (3) |HADHA, MTPA|600890|2p23 HMG-CoA lyase deficiency (3) |HMGCL|246450|1pter-p33 HMG-CoA synthase-2 deficiency, 605911 (3) |HMGCS2|600234|1p13-p12 HPFH, deletion type (3) |HBB|141900|11p15.5 HPRT-related gout, 300323 (3) |HPRT1, HPRT|308000|Xq26-q27.2 HSN I with cough and gastroesophageal reflux (2) |HSN1B|608088|3p24-p22 Haddad syndrome, 209880 (3) |ASCL1, ASH1|100790|12q22-q23 Hailey-Hailey disease, 169600 (3) |ATP2C1, BCPM, HHD|604384|3q21-q24 Haim-Munk syndrome, 245010 (3) |CTSC, CPPI, PALS, PLS, HMS, JPD|602365|11q14.1-q14.3 Hairy ears, Y-linked (2) (?) |HEY|425500|Yq Hand-foot-uterus syndrome, 140000 (3) |HOXA13, HOX1J|142959|7p15-p14.2 Harderoporphyrinuria (3) |CPO|121300|3q12 Hartnup disorder, 234500 (3) |SLC6A19, HND|608893|5p15 Hashimoto thyroiditis (2) |HT|140300|8q23-q24 Hawkinsinuria, 140350 (3) |HPD|609695|12q24-qter Hay-Wells syndrome, 106260 (3) |TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS, OFC8|603273|3q27 Hearing loss, low-frequency sensorineural, 600965 (3) |WFS1, WFRS, WFS, DFNA6|606201|4p16.1 Heart block, nonprogressive, 113900 (3) |SCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2|600163|3p21 Heart block, progressive familial, type IB, 113900 (2) |HB1, PFHB1B, HBN1|604559|19q13.2-q13.3 Heart block, progressive, type IA, 113900 (3) |SCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2|600163|3p21 Heinz body anemia (3) |HBA2|141850|16pter-p13.3 Heinz body anemias, alpha- (3) |HBA1|141800|16pter-p13.3 Heinz body anemias, beta- (3) |HBB|141900|11p15.5 Hemangioblastoma, cerebellar, somatic (3) |VHL|608537|3p26-p25 Hemangioma, capillary infantile (2) |HCI, HEMC|602089|5q31-q33 Hemangioma, capillary infantile, somatic, 602089 (3) |FLT4, VEGFR3, PCL, LMPH1A|136352|5q35.3 Hemangioma, capillary infantile, somatic, 602089 (3) |KDR|191306|4q12 Hematopoiesis, cyclic, 162800 (3) |ELA2|130130|19p13.3 Hematuria, benign familial, 141200 (3) |COL4A3|120070|2q36-q37 Hematuria, familial benign (3) |COL4A4|120131|2q36-q37 Heme oxygenase-1 deficiency (3) |HMOX1|141250|22q12 Hemifacial microsomia (2) |HFM|164210|14q32 Hemihypertrophy (2) |IH, HHP|235000|11p15 Hemiplegic migraine, familial, 141500 (3) |CACNA1A, CACNL1A4, SCA6|601011|19p13 Hemochromatosis (3) |HFE, HLA-H, HFE1|235200|6p21.3 Hemochromatosis, juvenile, 602390 (3) |HAMP, LEAP1, HEPC, HFE2|606464|19q13 Hemochromatosis, juvenile, digenic, 602390 (3) |HAMP, LEAP1, HEPC, HFE2|606464|19q13 Hemochromatosis, type 2A, 602390 (3) |HJV, HFE2A|608374|1q21 Hemochromatosis, type 3, 604250 (3) |TFR2, HFE3|604720|7q22 Hemochromatosis, type 4, 606069 (3) |SLC40A1, SLC11A3, FPN1, IREG1, HFE4|604653|2q32 Hemoglobin H disease (3) |HBA2|141850|16pter-p13.3 Hemolytic anemia (3) |SLC4A1, AE1, EPB3|109270|17q21-q22 Hemolytic anemia due to G6PD deficiency (3) |G6PD, G6PD1|305900|Xq28 Hemolytic anemia due to adenylate kinase deficiency (3) |AK1|103000|9q34.1 Hemolytic anemia due to bisphosphoglycerate mutase deficiency (3) |BPGM|222800|7q31-q34 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3) |GCLC, GLCLC|606857|6p12 Hemolytic anemia due to glucosephosphate isomerase deficiency (3) |GPI|172400|19q13.1 Hemolytic anemia due to glutathione peroxidase deficiency (1) |GPX1|138320|3p21.3 Hemolytic anemia due to glutathione reductase deficiency (1) |GSR|138300|8p21.1 Hemolytic anemia due to glutathione synthetase deficiency, 231900 (3) |GSS, GSHS|601002|20q11.2 Hemolytic anemia due to hexokinase deficiency (3) |HK1|142600|10q22 Hemolytic anemia due to phosphofructokinase deficiency (1) |PFKL|171860|21q22.3 Hemolytic anemia due to triosephosphate isomerase deficiency (3) |TPI1|190450|12p13 Hemolytic-uremic syndrome, 235400 (3) |HF1, CFH, HUS, ARMD4|134370|1q32 Hemolytic-uremic syndrome, 235400 (3) |MCP, CD46|120920|1q32 Hemophagocytic lymphohistiocytosis, familial, 1 (2) |FHL1, HPLH1, HLH1|267700|9q21.3-q22 Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3) |PRF1, HPLH2, FLH2|170280|10q22 Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3) |UNC13D, MUNC13-4, HPLH3, HLH3, FHL3|608897|17q25.1 Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3) |STX11, FHL4, HPLH4, HLH4|605014|6q24 Hemophilia A (3) |F8, F8C, HEMA|306700|Xq28 Hemophilia B (3) |F9, HEMB|306900|Xq27.1-q27.2 Hemorrhagic diathesis due to PAI1 deficiency (3) |PAI1, PLANH1, SERPINE1|173360|7q21.3-q22 Hemorrhagic diathesis due to \`antithrombin\' Pittsburgh (3) |PI, AAT, SERPINA1|107400|14q32.1 Hemorrhagic diathesis due to factor V deficiency (3) |F5|227400|1q23 Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3) |CP|117700|3q23-q24 Hepatic adenoma, 142330 (3) |HNF1A, TCF1, MODY3|142410|12q24.2 Hepatic failure, early onset, and neurologic disorder (3) |SCOD1, SCO1|603644|17p13-p12 Hepatic lipase deficiency (3) |LIPC, HL, LIPH, HDLCQ12|151670|15q21-q23 Hepatic venoocclusive disease with immunodeficiency, 235550 (3) |SP110, IFI41, IFI75, VODI|604457|2q37.1 Hepatoblastoma (3) |APC, GS, FPC, BTPS2|611731|5q21-q22 Hepatoblastoma (3) |CTNNB1|116806|3p22-p21.3 Hepatocellular cancer, 114550 (3) |PDGFRL, PDGRL, PRLTS|604584|8p22-p21.3 Hepatocellular carcinoma (1) (?) |LCO|165320|2q14-q21 Hepatocellular carcinoma (3) |IGF2R, MPRI|147280|6q26 Hepatocellular carcinoma, 114550 (3) |CTNNB1|116806|3p22-p21.3 Hepatocellular carcinoma, 114550 (3) |TP53, P53, LFS1|191170|17p13.1 Hepatocellular carcinoma, childhood type, 114550 (3) |MET, AUTS9|164860|7q31 Hepatocellular carcinoma, somatic, 114550 (3) |AXIN1, AXIN|603816|16p13.3 Hepatocellular carcinoma, somatic, 114550 (3) |CASP8, MCH5, ALPS2B|601763|2q33 Hepatocellular carcinoma, somatic, 114550 (3) |PIK3CA|171834|3q26.3 Hereditary hemorrhagic telangiectasia-1, 187300 (3) |ENG, END, HHT1, ORW|131195|9q34.1 Hereditary hemorrhagic telangiectasia-2, 600376 (3) |ACVRL1, ACVRLK1, ALK1, HHT2|601284|12q11-q14 Hereditary motor and sensory neuropathy VI, 601152 (3) |MFN2, KIAA0214, CMT2A2|608507|1p36.2 Hereditary persistence of fetal hemoglobin, heterocellular, Indian type (2) (?) |HPFH2|142335|7q36 Hermansky-Pudlak syndrome 1, 203300 (3) |HPS1|604982|10q23.1 Hermansky-Pudlak syndrome 2, 608233 (3) |AP3B1, ADTB3A, HPS2|603401|5q14.1 Hermansky-Pudlak syndrome 3, 203300 (3) |HPS3|606118|3q24 Hermansky-Pudlak syndrome 4, 203300 (3) |HPS4|606682|22q11.2-q12.2 Hermansky-Pudlak syndrome 6, 203300 (3) |HPS6, RU|607522|10q24.32 Hermansky-Pudlak syndrome 7, 203300 (3) |DTNBP1, HPS7|607145|6p22.3 Hermansky-Pudlak syndrome 8, 203300 (3) |BLOC1S3, BLOS3, HPS8|609762|19q13 Hermansky-pudlak syndrome 5, 203300 (3) |HPS5, RU2, KIAA1017|607521|11p15-p13 Hernia, congenital diaphragmatic 1 (2) |DIH1, HCD|142340|15q26.1 Hernia, congenital diaphragmatic 2 (2) |DIH2|222400|8p23.1 Herpes simplex encephalitis, UNC93B-deficient, 610551 (3) |UNC93B1|608204|11q13 Heterotaxy, X-linked visceral, 306955 (3) |ZIC3, HTX1, HTX|300265|Xq26.2 Heterotaxy, visceral (2) (?) |HTX3|606325|6q21 Heterotaxy, visceral, 2, autosomal, 605376 (3) |CFC1, CRYPTIC, HTX2|605194|2q21.1 Heterotaxy, visceral, 4, autosomal (3) |ACVR2B, ACTRIIB|602730|3p22-p21.3 Heterotopia, periventricular nodular, with frontometaphyseal dysplasia, 300049 (3) |FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS|300017|Xq28 Heterotopia, periventricular, 300049 (3) |FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS|300017|Xq28 Heterotopia, periventricular, ED variant, 300537 (3) |FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS|300017|Xq28 High-molecular-weight kininogen deficiency (3) |KNG|228960|3q27 Hip dysplasia, Beukes type (2) |BHD, BFHD|142669|4q35 Hirschsprung disease, 142623 (3) |EDN3|131242|20q13.2-q13.3 Hirschsprung disease, 142623 (3) |GDNF|600837|5p13.1-p12 Hirschsprung disease, 142623 (3) |RET, MEN2A|164761|10q11.2 Hirschsprung disease, cardiac defects, and autonomic dysfunction (3) |ECE1|600423|1p36.1 Hirschsprung disease, short-segment, 142623 (3) |PMX2B, NBPHOX, PHOX2B|603851|4p12 Hirschsprung disease-2, 600155 (3) |EDNRB, HSCR2, ABCDS|131244|13q22 Histiocytoma (3) |TP53, P53, LFS1|191170|17p13.1 Holocarboxylase synthetase deficiency, 253270 (3) |HLCS, HCS|609018|21q22.1 Holoprosencephaly-1 (2) |HPE1|236100|21q22.3 Holoprosencephaly-2, 157170 (3) |SIX3, HPE2|603714|2p21 Holoprosencephaly-3, 142945 (3) |SHH, HPE3, HLP3, SMMCI, MCOPCB5|600725|7q36 Holoprosencephaly-4, 142946 (3) |TGIF, HPE4|602630|18p11.3 Holoprosencephaly-5, 609637 (3) |ZIC2, HPE5|603073|13q32 Holoprosencephaly-6, 236100 (2) |HPE6|605934|2q37.1-q37.3 Holoprosencephaly-7, 610828 (3) |PTCH1, NBCCS, BCNS, HPE7|601309|9q22.3 Holoprosencephaly-8 (2) |HPE8|609408|14q13 Holoprosencephaly-9, 610829 (3) |GLI2, HPE9|165230|2q14 Holt-Oram syndrome, 142900 (3) |TBX5|601620|12q24.1 Homocysteine plasma level (2) |NNMT|600008|11q23.1 Homocysteine, total plasma, elevated (3) |CTH|607657|1p31.1 Homocystinuria due to MTHFR deficiency, 236250 (3) |MTHFR|607093|1p36.3 Homocystinuria, B6-responsive and nonresponsive types (3) |CBS|236200|21q22.3 Homocystinuria, cblD type, variant 1, 277410 (3) |C2orf25|611935|2q23.2 Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3) |MTRR|602568|5p15.3-p15.2 Homozygous 2p16 deletion syndrome, 606407 (3) |SLC3A1, ATR1, D2H, NBAT|104614|2p16.3 Hoyeraal-Hreidarsson syndrome, 300240 (3) |DKC1, DKC|300126|Xq28 Humoral hypercalcemia of malignancy (1) (?) |PTHLH|168470|12p12.1-p11.2 Huntington disease (3) |HD, IT15|143100|4p16.3 Huntington disease-like 1, 603218 (3) |PRNP, PRIP|176640|20pter-p12 Huntington disease-like 2, 606438 (3) |JPH3, JP3, HDL2|605268|16q24.3 Huntington disease-like 3 (2) |HDL3, HLN2|604802|4p15.3 Huntington disease-like-4, 607136 (3) |TBP, SCA17|600075|6q27 Huriez syndrome (2) |TYS, HRZ|181600|4q23 Hutchinson-Gilford progeria, 176670 (3) |LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B|150330|1q21.2 Hutchinson-Gilford progeria, 176670 (3) |LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B|150330|1q21.2 Hyalinosis, infantile systemic, 236490 (3) |ANTXR2, CMG2, JHF, ISH|608041|4q21 Hydatidiform mole, 231090 (3) |NALP7, NOD12, PYPAF3, HYDM|609661|19q13.4 Hydrocephalus due to aqueductal stenosis, 307000 (3) |L1CAM, CAML1, HSAS1|308840|Xq28 Hydrocephalus with Hirschsprung disease and cleft palate, 142623 (3) |L1CAM, CAML1, HSAS1|308840|Xq28 Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3) |L1CAM, CAML1, HSAS1|308840|Xq28 Hydrolethalus syndrome, 236680 (3) |HYLS1, FLJ32915|610693|11q24.2 Hydrops fetalis, one form (1) |GPI|172400|19q13.1 Hyper-IgD syndrome, 260920 (3) |MVK, MVLK|251170|12q24 Hyper-IgE syndrome (2) |HIES|147060|4q21 Hyperaldosteronism, familial, type II (2) |FHII|605635|7p22 Hyperalphalipoproteinemia, 143470 (3) |CETP, HDLCQ10|118470|16q21 Hyperammonemia with hypoornithinemia, hypocitrullinemia, hypoargininemia, and hypoprolinemia (3) |PYCS, GSAS|138250|10q24.3 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency (3) |CYP21A2, CYP21, CA21H|201910|6p21.3 Hyperbilirubinemia, familial transcient neonatal, 237900 (3) |UGT1A1, UGT1, GNT1|191740|2q37 Hypercalciuria, absorptive (2) |HCA1|607258|4q33-qter Hypercalciuric hypercalcemia, type III (2) |HHC3, FBH3|600740|19q13 Hypercholanemia, familial, 607748 (3) |BAAT|602938|9q22.3 Hypercholanemia, familial, 607748 (3) |EPHX1|132810|1q42.1 Hypercholanemia, familial, 607748 (3) |TJP2, ZO2|607709|9q12-q13 Hypercholesterolemia, due to ligand-defective apo B, 144010 (3) |APOB, FLDB|107730|2p24 Hypercholesterolemia, familial, 143890 (3) |LDLR, FHC, FH|606945|19p13.2 Hypercholesterolemia, familial, 3, 603776 (3) |PCSK9, NARC1, HCHOLA3, FH3, LDLCQ1|607786|1p34.1-p32 Hypercholesterolemia, familial, autosomal recessive, 603813 (3) |LDLRAP1, ARH, FHCB2, FHCB1|605747|1p36-p35 Hypercholesterolemia, familial, modification of, 143890 (3) |APOA2|107670|1q21-q23 Hyperchylomicronemia, late-onset, 144650 (3) |APOA5|606368|11q23 Hyperekplexia and epilepsy, 300607 (3) |ARHGEF9, PEM2, KIAA0424|300429|Xq22.1 Hyperekplexia and spastic paraparesis (3) |GLRA1, STHE|138491|5q32 Hyperekplexia, 149400 (3) |GPH, KIAA1385, GEPH|603930|14q24 Hyperekplexia, 149400 (3) |SLC6A5, GLYT2|604159|11p15.2-p15.1 Hyperekplexia, autosomal recessive, 149400 (3) |GLRB|138492|4q31.3 Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3) |PDGFRA|173490|4q12 Hyperferritinemia-cataract syndrome, 600886 (3) |FTL|134790|19q13.3-q13.4 Hyperimmunoglobulin E recurrent infection syndrome, 147060 (3) |STAT3, APRF|102582|17q21 Hyperimmunoglobulin G1 syndrome (2) (?) |IGHR|144120|14q32.33 Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3) |ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2|600509|11p15.1 Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3) |KCNJ11, BIR, PHHI, HHF2, TNDM3|600937|11p15.1 Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3) |GCK, HHF3|138079|7p15-p13 Hyperinsulinemic hypoglycemia, familial, 4, 609975 (3) |HADHSC, SCHAD, HHF4|601609|4q22-q26 Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3) |INSR, HHF5|147670|19p13.2 Hyperinsulinism-hyperammonemia syndrome, 606762 (3) |GLUD1|138130|10q23.3 Hyperkalemic periodic paralysis, 170500 (3) |SCN4A, HYPP, NAC1A|603967|17q23.1-q25.3 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 (3) |CCM1, CAM, KRIT1|604214|7q11.2-q21 Hyperleucinemia-isoleucinemia or hypervalinemia (1) (?) |BCAT1, BCT1|113520|12p12 Hyperlipidemia, combined, 2 (2) |HYPLIP2|604499|11p Hyperlipoproteinemia, type III (3) |APOE, AD2, LPG|107741|19q13.2 Hyperlipoproteinemia, type Ib, 207750 (3) |APOC2|608083|19q13.2 Hyperlysinemia, 238700 (3) |AASS|605113|7q31.3 Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (3) |AHCY, SAHH|180960|20cen-q13.1 Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency (3) |MAT1A, MATA1, SAMS1|250850|10q22 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3) |SLC25A15, ORNT1, HHH|603861|13q14 Hyperostosis, endosteal, 144750 (3) |LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4|603506|11q13.4 Hyperostosis-hyperphosphatemia syndrome, 610233 (3) |GALNT3, HHS, HFTC|601756|2q24-q31 Hyperoxaluria, primary, type 1, 259900 (3) |AGXT, SPAT|604285|2q36-q37 Hyperoxaluria, primary, type II, 260000 (3) |GRHPR, GLXR|604296|9cen Hyperparathyroidism 3 (2) |HRPT3|610071|2p14-p13.3 Hyperparathyroidism, AD, 145000 (3) |MEN1|131100|11q13 Hyperparathyroidism, familial primary, 145000 (3) |HRPT2, C1orf28|607393|1q25-q31 Hyperparathyroidism, neonatal, 239200 (3) |CASR, HHC1, PCAR1, FIH|601199|3q13.3-q21 Hyperparathyroidism-jaw tumor syndrome, 145001 (3) |HRPT2, C1orf28|607393|1q25-q31 Hyperphenylalaninemia due to pterin-4a-carbinolamine dehydratase deficiency, 264070 (3) |PCBD, DCOH|126090|10q22 Hyperpigmentation, familial progressive (2) |FPH, MUH, HPP|145250|19pter-p13.1 Hyperproinsulinemia, familial (3) |INS|176730|11p15.5 Hyperprolinemia, type I, 239500 (3) |PRODH, PRODH2, SCZD4|606810|22q11.2 Hyperprolinemia, type II, 239510 (3) |ALDH4A1, ALDH4, P5CDH|606811|1p36 Hyperprothrombinemia (3) |F2|176930|11p11-q12 Hypertension with brachydactyly (2) |HTNB|112410|12p12.2-p11.2 Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3) |NR3C2, MLR, MCR|600983|4q31.1 Hypertension, essential, 145500 (1) (?) |PNMT, PENT|171190|17q21-q22 Hypertension, essential, 145500 (3) |AGTR1, AGTR1A, AT2R1|106165|3q21-q25 Hypertension, essential, 145500 (3) |PTGIS, CYP8A1, PGIS, CYP8|601699|20q13.11-q13.13 Hypertension, mild low-renin (3) |HSD11B2, HSD11K|218030|16q22 Hypertension, salt-resistant (1) (?) |NPR3, ANPRC|108962|5p14-p12 Hypertensive nephropathy (2) |HNP1|608026|9q31-q32 Hyperthyroidism, congenital (3) |TPO, TPX|606765|2p25 Hyperthyroidism, familial gestational, 603373 (3) |TSHR|603372|14q31 Hyperthyroidism, nonautoimmune, 609152 (3) |TSHR|603372|14q31 Hypertrichosis universalis congenita, Ambras type (2) (?) |ITC1|145701|8q22 Hypertrichosis, congenital generalized (2) |HTC2, HCG, CGH|307150|Xq24-q27.1 Hypertriglyceridemia, one form (3) |APOA1|107680|11q23 Hyperuricemic nephropathy, familial juvenile, 162000 (3) |UMOD, HNFJ, FJHN, MCKD2, ADMCKD2|191845|16p12.3 Hypervalinemia or hyperleucine-isoleucinemia (1) (?) |BCAT2, BCT2|113530|19q13 Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3) |CYP11B2|124080|8q21 Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3) |CYP11B2|124080|8q21 Hypoalphalipoproteinemia, 604091 (3) |APOA1|107680|11q23 Hypoalphalipoproteinemia, primary (2) |HYALP, HDLD3|605201|11q23.3 Hypobetalipoproteinemia (3) |APOB, FLDB|107730|2p24 Hypobetalipoproteinemia, familial, 2 (2) |FHBL2|605019|3p22-p21.1 Hypobetalipoproteinemia, normotriglyceridemic (3) |APOB, FLDB|107730|2p24 Hypocalcemia, autosomal dominant, 146200 (3) |CASR, HHC1, PCAR1, FIH|601199|3q13.3-q21 Hypocalcemia, autosomal dominant, with Bartter syndrome (3) |CASR, HHC1, PCAR1, FIH|601199|3q13.3-q21 Hypocalciuric hypercalcemia, type I, 145980 (3) |CASR, HHC1, PCAR1, FIH|601199|3q13.3-q21 Hypocalciuric hypercalcemia, type II (2) |HHC2, FHH2|145981|19p13.3 Hypochondroplasia, 146000 (3) |FGFR3, ACH|134934|4p16.3 Hypochromic microcytic anemia (3) |HBA2|141850|16pter-p13.3 Hypodontia with orofacial cleft, 106600 (3) |MSX1, HOX7, HYD1, OFC5|142983|4p16.1 Hypodontia, 106600 (3) |PAX9|167416|14q12-q13 Hypodontia, X-linked, 300606 (3) |ED1, EDA, HED|300451|Xq12-q13.1 Hypodontia, autosomal dominant, 106600 (3) |MSX1, HOX7, HYD1, OFC5|142983|4p16.1 Hypodontia, autosomal recessive (2) |HYD2|602639|16q12.1 Hypofibrinogenemia, gamma type (3) |FGG|134850|4q28 Hypoglobulinemia and absent B cells (3) |BLNK, SLP65|604515|10q23.2 Hypoglycemia due to PCK1 deficiency (1) (?) |PCK1|261680|20q13.31 Hypoglycemia of infancy, leucine-sensitive, 240800 (3) |ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2|600509|11p15.1 Hypogonadism, hypergonadotropic (3) |LHB|152780|19q13.32 Hypogonadotropic hypogonadism (3) |GNRHR, LHRHR|138850|4q21.2 Hypogonadotropic hypogonadism (3) |LHCGR|152790|2p21 Hypogonadotropic hypogonadism due to GNRH deficiency, 227200 (1) (?) |GNRH1, LNRH|152760|8p21-p11.2 Hypogonadotropic hypogonadism, 146110 (3) |GPR54|604161|19p13.3 Hypogonadotropic hypogonadism, 146110 (3) |NELF|608137|9q34.3 Hypokalemic periodic paralysis, 170400 (3) |CACNA1S, CACNL1A3, CCHL1A3|114208|1q32 Hypokalemic periodic paralysis, 170400 (3) |KCNE3, HOKPP|604433|11q13-q14 Hypokalemic periodic paralysis, 170400 (3) |SCN4A, HYPP, NAC1A|603967|17q23.1-q25.3 Hypolactasia, adult type, 223100 (3) |LCT, LAC, LPH|603202|2q21 Hypomagnesemia 4, renal, 611718 (3) |EGF, URG, HOMG4|131530|4q25 Hypomagnesemia with secondary hypocalcemia, 602014 (3) |TRPM6, CHAK2|607009|9q22 Hypomagnesemia, primary, 248250 (3) |CLDN16, PCLN1, HOMG3|603959|3q27 Hypomagnesemia, renal, with ocular involvement, 248190 (3) |CLDN19|610036|1p34.2 Hypomagnesemia-2, renal, 154020 (3) |FXYD2, ATP1G1, HOMG2|601814|11q23 Hypomyelination and congenital cataract, 610532 (3) |FAM126A, DRCTNNB1A|610531|7p15.3 Hypoparathyroidism, X-linked (2) |HPT, HPTX, HYPX|307700|Xq26-q27 Hypoparathyroidism, autosomal dominant, 146200 (3) |PTH|168450|11p15.3-p15.1 Hypoparathyroidism, autosomal recessive, 146200 (3) |PTH|168450|11p15.3-p15.1 Hypoparathyroidism, familial isolated, 146200 (3) |GCMB|603716|6p24.2 Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 (3) |GATA3, HDR|131320|10p15 Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 (3) |TBCE, KCS, KCS1, HRD|604934|1q42-q43 Hypophosphatasia, childhood, 241510 (3) |ALPL, HOPS, TNSALP|171760|1p36.1-p34 Hypophosphatasia, infantile, 241500 (3) |ALPL, HOPS, TNSALP|171760|1p36.1-p34 Hypophosphatemia, X-linked, 307800 (3) |PHEX, HYP, HPDR1|300550|Xp22.2-p22.1 Hypophosphatemic rickets with hypercalciuria, 241530 (3) |SLC34A3, NPTIIC, HHRH|609826|9q34 Hypophosphatemic rickets, 300554 (3) |CLCN5, CLCK2, NPHL2, DENTS, NPHL1|300008|Xp11.22 Hypophosphatemic rickets, autosomal dominant, 193100 (3) |FGF23, ADHR, HPDR2, PHPTC|605380|12p13.3 Hypoplastic enamel pitting, localized, 608563 (3) |ENAM, AIH2|606585|4q21 Hypoplastic left heart syndrome, 241550 (3) |GJA1, CX43, ODDD, SDTY3, ODOD|121014|6q21-q23.2 Hypoproteinemia, hypercatabolic, 241600 (3) |B2M|109700|15q21-q22 Hypoprothrombinemia (3) |F2|176930|11p11-q12 Hypospadias, X-linked, 300633 (3) |MAMLD1, CXorf6, F18|300120|Xq28 Hypospadias, perineal, 300633 (3) |AR, DHTR, TFM, SBMA, KD, SMAX1|313700|Xq11-q12 Hypothyroidism, congenital, 274400 (3) |SLC5A5, NIS|601843|19p13.2-p12 Hypothyroidism, congenital, due to DUOX2 deficiency, 607200 (3) |DUOX2, THOX2|606759|15q15.3 Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 (3) |PAX8|167415|2q12-q14 Hypothyroidism, congenital, nongoitrous, 1 275200 (3) |TSHR|603372|14q31 Hypothyroidism, congenital, nongoitrous, 3 (2) |CHNG3, RTSH|609893|15q25.3-q26.1 Hypothyroidism, hereditary congenital (3) |TG, AITD3|188450|8q24.2-q24.3 Hypothyroidism, nongoitrous (3) |TSHB|188540|1p13 Hypotrichosis simplex (2) |HTS|605389|18p11.32-p11.23 Hypotrichosis simplex of scalp, 146520 (3) |CDSN, HTSS|602593|6p21.3 Hypotrichosis simplex, contiguous gene syndrome with, 605389 (2) |TGIF, HPE4|602630|18p11.3 Hypotrichosis, Marie Unna type (2) |MUHH|146550|8p21 Hypotrichosis, congential, with juvenile macular dystrophy, 601553 (3) |CDH3, CDHP, PCAD, HJMD|114021|16q22.1 Hypotrichosis, localized, autosomal recessive, 2 (2) |HTL2|609167|3q26.3-q27.3 Hypotrichosis, localized, autosomal recessive, 3, 611452 (3) |P2RY5, P2Y5, LAH3|609239|13q14.12-q14.2 Hypotrichosis, localized, autosomal recessive, 607903 (3) |DSG4, LAH|607892|18q12 Hypotrichosis, total, Mari type, 604379 (3) |LIPH|607365|3q27-q28 Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 (3) |SOX18, HLTS|601618|20q13.33 Hypouricemia, renal, 220150 (3) |SLC22A12, OAT4L, URAT1|607096|11q13 Hystrix-like ichthyosis with deafness, 602540 (3) |GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID|121011|13q11-q12 ICOS deficiency, 607594 (3) |ICOS, AILIM|604558|2q33 IMAGE syndrome (2) |IMAGE|300290|Chr.X IRAK4 deficiency, 607676 (3) |IRAK4, REN64, IPD1|606883|12q12 IVIC syndrome, 147750 (3) |SALL4, HSAL4|607343|20q13.13-q13.2 Ichthyosiform erythroderma, congenital, 242100 (3) |TGM1, ICR2, LI1|190195|14q11.2 Ichthyosiform erythroderma, congenital, nonbullous, 1, 242100 (3) |ALOX12B|603741|17p13.1 Ichthyosiform erythroderma, congenital, nonbullous, 1, 242100 (3) |ALOXE3|607206|17p13.1 Ichthyosis bullosa of Siemens, 146800 (3) |KRT2, KRT2A, KRT2E|600194|12q11-q13 Ichthyosis histrix, Curth-Macklin type, 146590 (3) |KRT1|139350|12q13 Ichthyosis vulgaris, 146700 (3) |FLG, ATOD2|135940|1q21 Ichthyosis with hypotrichosis, 610765 (3) |ST14, MTSP1|606797|11q24-q25 Ichthyosis, X-linked (3) |STS, ARSC1, ARSC, SSDD|308100|Xp22.32 Ichthyosis, congenital, autosomal recessive (3) |ICHYN|609383|5q33 Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3) |KRT10|148080|17q21-q22 Ichthyosis, harlequin, 242500 (3) |ABCA12, ICR2B, LI2|607800|2q34 Ichthyosis, lamellar 2, 601277 (3) |ABCA12, ICR2B, LI2|607800|2q34 Ichthyosis, lamellar, 3, 604777 (3) |CYP4F22, LI3|611495|19p13.12 Ichthyosis, lamellar, 5 (2) |LI5|606545|17p13.2-p13.1 Ichthyosis, lamellar, autosomal recessive, 242300 (3) |TGM1, ICR2, LI1|190195|14q11.2 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3) |CLDN1, SEMP1, ILVASC|603718|3q28-q29 Ichthyosis, nonlamellar and nonerythrodermic, congenital (2) |INLNE|604781|19p13.2-p13.1 IgG2 deficiency, selective (3) |IGHG2|147110|14q32.33 Immunodeficiency due to defect in CD3-epsilon (3) |CD3E|186830|11q23 Immunodeficiency due to defect in CD3-gamma (3) |CD3G|186740|11q23 Immunodeficiency due to defect in CD3-zeta, 610163 (3) |CD247, CD3Z, TCRZ|186780|1q22-q23 Immunodeficiency due to defect in MAPBP-interacting protein, 610798 (3) |MAPBPIP, p14|610389|1q22 Immunodeficiency with hyper IgM, type 4, 608106 (3) |UNG, DGU, HIGM4|191525|12q23-q24.1 Immunodeficiency with hyper-IgM, type 2, 605258 (3) |AICDA, AID, HIGM2|605257|12p13 Immunodeficiency with hyper-IgM, type 3, 606843 (3) |TNFRSF5, CD40|109535|20q12-q13.2 Immunodeficiency, X-linked, with hyper-IgM, 308230 (3) |TNFSF5, CD40LG, HIGM1, IGM|300386|Xq26 Immunodeficiency, isolated, 300584 (3) |IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1|300248|Xq28 Immunodeficiency-centromeric instability-facial anomalies syndrome, 242860 (3) |DNMT3B, ICF|602900|20q11.2 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3) |FOXP3, IPEX, AIID, XPID, PIDX|300292|Xp11.23-q13.3 Immunoglobulin A deficiency (2) |IGAD1|137100|6p21.3 Immunoglobulin A deficiency, 609529 (3) |TNFRSF13B, TACI, CVID|604907|17p11.2 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia, 167320 (3) |VCP, IBMPFD|601023|9p13-p12 Inclusion body myopathy, autosomal recessive, 600737 (3) |GNE, GLCNE, IBM2, DMRV, NM|603824|9p12-p11 Inclusion body myopathy-3, 605637 (3) |MYH2|160740|17p13.1 Incontinentia pigmenti, type II, 308300 (3) |IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1|300248|Xq28 Increased responsiveness to growth hormone (3) |GHR|600946|5p13-p12 Infantile neuroaxonal dystrophy 1, 256600 (3) |PLA2G6, IPLA2, INAD1|603604|22q13.1 Infantile spasm syndrome, 308350 (3) |ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43|300382|Xp22.13 Infantile spasm syndrome, X-linked, 308350 (3) |CDKL5, STK9, ISSX|300203|Xp22 Infundibular hypoplasia and hypopituitarism (3) |SOX3, MRGH|313430|Xq26.3 Insensitivity to pain, channelopathy-associated, 243000 (3) |SCN9A, NENA, PN1|603415|2q24 Insensitivity to pain, congenital, with anhidrosis, 256800 (3) |NTRK1, TRKA, MTC|191315|1q21-q22 Insomnia (3) (?) |GABRB3|137192|15q11.2-q12 Insomnia, fatal familial, 600072 (3) |PRNP, PRIP|176640|20pter-p12 Insulin resistance, severe, digenic, 604367 (3) |PPARG, PPARG1, PPARG2|601487|3p25 Insulin resistance, severe, digenic, 604367 (3) |PPP1R3A, PPP1R3|600917|7q11.23-q21.11 Insulinoma (1) |ITS|606960|22q12.1-q12.2 Interferon, alpha, deficiency (1) |IFNA1, IFNA@|147660|9p22 Interferon, immune, deficiency (1) |IFNG, IFG, IFI|147570|12q14 Interleukin-2 receptor, alpha chain, deficiency of (3) |IL2RA, IL2R, IDDM10|147730|10p15.1 Intestinal pseudoobstruction, neuronal, X-linked (2) |IPOX, CIIPX|300048|Xq28 Intrauterine and postnatal growth retardation (3) |IGF1R|147370|15q25-q26 Intrauterine and postnatal growth retardation (3) |IGF2|147470|11p15.5 Intrinsic factor deficiency, 261000 (3) |GIF, IF|609342|11q13 Invasive pneumococcal d |IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1|300248|Xq28 Invasive pneumococcal disease, recurrent isolated, 1, 610799 (3) |IRAK4, REN64, IPD1|606883|12q12 Iridogoniodysgenesis syndrome-2, 137600 (3) |PITX2, IDG2, RIEG1, RGS, IGDS2|601542|4q25-q26 Iridogoniodysgenesis, 601631 (3) |FOXC1, FKHL7, FREAC3|601090|6p25 Iris hypoplasia and glaucoma (3) |FOXC1, FKHL7, FREAC3|601090|6p25 Iron overload, autosomal dominant (3) |FTH1, FTHL6|134770|11q12-q13 Isobutyryl-CoA dehydrogenase deficiency, 611283 (3) |ACAD8|604773|11q25 Isolated growth hormone deficiency due to defect in GHRF (1) (?) |GHRH, GHRF|139190|20q11.2 Isovaleric acidemia, 243500 (3) |IVD|607036|15q14-q15 Jackson-Weiss syndrome, 123150 (3) |FGFR1, FLT2, KAL2|136350|8p11.2-p11.1 Jackson-Weiss syndrome, 123150 (3) |FGFR2, BEK, CFD1, JWS|176943|10q26 Jacobsen syndrome (2) |JBS|147791|11q23 Jensen syndrome, 311150 (3) |TIMM8A, DFN1, DDP, MTS, DDP1|300356|Xq22 Jervell and Lange-Nielsen syndrome, 220400 (3) |KCNE1, JLNS, LQT5|176261|21q22.1-q22.2 Jervell and Lange-Nielsen syndrome, 220400 (3) |KCNQ1, KCNA9, LQT1, KVLQT1, ATFB1, SQT2|607542|11p15.5 Johanson-Blizzard syndrome, 243800 (3) |UBR1, JBS|605981|15q15-q21.1 Joubert syndrome 4, 609583 (3) |NPHP1, NPH1, SLSN1, JBTS4|607100|2q13 Joubert syndrome 5, 610188 (3) |CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10|610142|12q21.3 Joubert syndrome 6, 610688 (3) |TMEM67, MKS3, JBTS6|609884|8q21.13-q22.1 Joubert syndrome 7, 611560 (3) |RPGRIP1L, KIAA1005, JBTS7|610937|16q12.2 Joubert syndrome-1 (2) |JBTS1|213300|9q34.3 Joubert syndrome-3, 608629 (3) |AHI1|608894|6q23.3 Juvenile polyposis syndrome, infantile form, 174900 (3) |BMPR1A, ACVRLK3, ALK3|601299|10q22.3 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3) |MADH4, DPC4, SMAD4, JIP|600993|18q21.1 Kallmann syndrome (3) |KAL1, KMS, ADMLX|308700|Xp22.3 Kallmann syndrome 2, 147950 (3) |FGFR1, FLT2, KAL2|136350|8p11.2-p11.1 Kallmann syndrome 3, 244200 (3) |PROKR2, PKR2, GPR73L1, KAL3|607123|20p13 Kallmann syndrome 4, 610628 (3) |PROK2, PK2, BV8, KAL4|607002|3p21.1 Kanzaki disease, 609242 (3) |NAGA|104170|22q11 Karak syndrome, 608395 (3) |PLA2G6, IPLA2, INAD1|603604|22q13.1 Kartagener syndrome, 244400 (3) |DNAH11, DNAHC11, CILD7|603339|7p21 Kartagener syndrome, 244400 (3) |DNAH5, HL1, PCD, CILD3|603335|5p15-p14 Kartagener syndrome, 244400 (3) |DNAI1, CILD1, ICS, PCD|604366|9p21-p13 Kenny-Caffey syndrome-1, 244460 (3) |TBCE, KCS, KCS1, HRD|604934|1q42-q43 Keratitis, 148190 (3) |PAX6, AN2, MGDA|607108|11p13 Keratitis-ichthyosis-deafness syndrome, 148210 (3) |GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID|121011|13q11-q12 Keratoconus 2 (2) |KTCN2|608932|16q22.3-q23.1 Keratoconus 3 (2) |KTCN3|608586|3p14-q13 Keratoconus 4 (2) |KTCN4|609271|2p24 Keratoconus, 148300 (3) |VSX1, RINX, PPCD, PPD, KTCN|605020|20p11.2 Keratoderma, palmoplantar, with deafness, 148350 (3) |GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID|121011|13q11-q12 Keratolytic winter erythema (2) |KWE|148370|8p23-p22 Keratosis follicularis spinulosa decalvans, 308800 (3) |SAT1, SSAT, KFSD|313020|Xp22.1 Keratosis palmoplantaria striata, 148700 (3) |KRT1|139350|12q13 Keratosis palmoplantaris striata I, 148700 (3) |DSG1|125670|18q12.1-q12.2 Keratosis palmoplantaris striata II (3) |DSP, KPPS2, PPKS2|125647|6p24 Keratosis palmoplantaris striata III, 607654 (3) |KRT1|139350|12q13 Keutel syndrome, 245150 (3) |MGP, NTI|154870|12p13.1-p12.3 Kindler syndrome, 173650 (3) |KIND1, URP1, C20orf42|607900|20p13 Klippel-Feil syndrome (2) (?) |KFM, KFS|214300|5q11.2 Klippel-Feil syndrome with laryngeal malformation (2) |SGM1, KFSL|148900|8q22.2 Klippel-Trenaunay-Weber syndrome (2) |KTWS, KTS|149000|8q22.3 Kniest dysplasia, 156550 (3) |COL2A1|120140|12q13.11-q13.2 Knobloch syndrome, 267750 (3) |COL18A1, KNO|120328|21q22.3 Kowarski syndrome, 262650 (3) |GH1, GHN|139250|17q22-q24 Krabbe disease, 245200 (3) |GALC|606890|14q31 Krabbe disease, atypical, 611722 (3) |PSAP, SAP1|176801|10q22.1 Kufor-Rakeb syndrome, 606693 (3) |ATP13A2, PARK9, KRPPD|610513|1p36 Kyphoscoliosis 1 (2) |KYPSC1|610170|5p13 L-2-hydroxyglutaric aciduria, 236792 (3) |L2HGDH, C14orf160|609584|14q22.1 LADD syndrome, 149730 (3) |FGF10|602115|5p13-p12 LADD syndrome, 149730 (3) |FGFR3, ACH|134934|4p16.3 LCHAD deficiency, 609016 (3) |HADHA, MTPA|600890|2p23 LDHCP syndrome, 608056 (3) |LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B|150330|1q21.2 LEOPARD syndrome 2, 611554 (3) |RAF1, CRAF, NS5|164760|3p25 LIG4 syndrome, 606593 (3) |LIG4|601837|13q22-q34 Lactase persistance/nonpersistance, 223100 (3) |MCM6|601806|2q21 Lactate dehydrogenase-B deficiency (3) |LDHB|150100|12p12.2-p12.1 Lactic acidosis, fatal infantile, 245400 (3) |SUCLG1, SUCLA1|611224|2p11.2 Lacticacidemia due to PDX1 deficiency, 245349 (3) |PDX1|608769|11p13 Langer mesomelic dysplasia, 249700 (3) |SHOX, GCFX, SS, PHOG|312865|Xpter-p22.32 Langer mesomelic dysplasia, 249700 (3) |SHOXY|400020|Ypter-p11.2 Langer-Giedion syndrome (2) |LGCR, LGS, TRPS2|150230|8q24.11-q24.13 Laron dwarfism, 262500 (3) |GHR|600946|5p13-p12 Larsen-like syndrome (2) |LRSL|608545|6p25 Larson syndrome, 150250 (3) |FLNB, SCT, AOI, LRS1|603381|3p14.3 Laryngeal adductor paralysis (2) (?) |LAP|150270|6p21.3-p21.2 Laryngoonychocutaneous syndrome, 245660 (3) |LAMA3, LOCS|600805|18q11.2 Lathosterolosis, 607330 (3) |SC5DL, ERG3|602286|11q23.3 Leber congenital amaurosis I, 204000 (3) |GUCY2D, GUC2D, LCA1, CORD6|600179|17p13.1 Leber congenital amaurosis VI (3) |RPGRIP1, LCA6, CORD9|605446|14q11 Leber congenital amaurosis VII (3) |CRX, CORD2, CRD, LCA7|602225|19q13.3 Leber congenital amaurosis VIII (3) |CRB1, RP12, LCA8|604210|1q31-q32.1 Leber congenital amaurosis XI (3) |IMPDH1, RP10, LCA11|146690|7q31.3-q32 Leber congenital amaurosis, 604393 (3) |AIPL1, LCA4|604392|17p13.1 Leber congenital amaurosis, type III, 604232 (3) |RDH12, LCA3|608830|14q23.3 Leber congenital amaurosis, type V, 604537 (3) |LCA5, C6orf152|611408|6q14.1 Leber congenital amaurosis, type X, 611755 (3) |CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10|610142|12q21.3 Leber congenital amaurosis, type XII, 610612 (3) |C1orf36, RD3, LCA12|180040|1q32.3 Leber congenital amaurosis-2, 204100 (3) |RPE65, RP20|180069|1p31 Left ventricular noncompaction with congenital heart defects, 606617 (3) |DTNA, D18S892E, DRP3, LVNC1|601239|18q12.1-q12.2 Left ventricular noncompaction, familial isolated, 1, 604169 (3) |DTNA, D18S892E, DRP3, LVNC1|601239|18q12.1-q12.2 Left-right axis malformations (3) |EBAF, TGFB4, LEFTY2, LEFTA, LEFTYA|601877|1q42.1 Leigh syndrome due to cytochrome c oxidase deficiency, 256000 (3) |COX15|603646|10q24 Leigh syndrome, 256000 (3) |BCS1L, FLNMS, GRACILE, BJS, PTD|603647|2q33 Leigh syndrome, 256000 (3) |DLD, LAD, PHE3|238331|7q31-q32 Leigh syndrome, 256000 (3) |NDUFS3|603846|11p11.11 Leigh syndrome, 256000 (3) |NDUFS4, AQDQ|602694|5q11.1 Leigh syndrome, 256000 (3) |NDUFS7, PSST|601825|19p13 Leigh syndrome, 256000 (3) |NDUFS8|602141|11q13 Leigh syndrome, 256000 (3) |NDUFV1, UQOR1|161015|11q13 Leigh syndrome, 256000 (3) |SDHA, SDH2, SDHF|600857|5p15 Leigh syndrome, French-Canadian type, 220111 (3) |LRPPRC, LRP130, LSFC|607544|2p21-p16 Leigh syndrome, X-linked, 308930 (3) |PDHA1, PHE1A|300502|Xp22.2-p22.1 Leigh syndrome, due to COX deficiency, 256000 (3) |SURF1|185620|9q34 Leiomyomatosis and renal cell cancer, 605839 (3) |FH|136850|1q42.1 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (3) |COL4A6|303631|Xq22.3 Leopard syndrome, 151100 (3) |PTPN11, PTP2C, SHP2, NS1|176876|12q24.1 Leprechaunism, 246200 (3) |INSR, HHF5|147670|19p13.2 Leri-Weill dyschondrosteosis, 127300 (3) |SHOX, GCFX, SS, PHOG|312865|Xpter-p22.32 Leri-Weill dyschondrosteosis, 127300 (3) |SHOXY|400020|Ypter-p11.2 Lesch-Nyhan syndrome, 300322, (3) |HPRT1, HPRT|308000|Xq26-q27.2 Lethal congenital contractural syndrome 2, 607598 (3) |ERBB3, LCCS2|190151|12q13 Lethal congenital contractural syndrome 3, 611369 (3) |PIP5K1C, LCCS3|606102|19p13.3 Lethal congenital contracture syndrome 1, 253310 (3) |GLE1, GLE1L, LCCS, LCCS1|603371|9q34 Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3) |ABL1|189980|9q34.1 Leukemia, T-cell acute lymphoblastic (2) |LMO1, RBTN1, RHOM1|186921|11p15 Leukemia, T-cell acute lymphoblastic (2) |NOTCH1, TAN1|190198|9q34.3 Leukemia, T-cell acute lymphoblastic (3) |NUP214, D9S46E, CAN, CAIN|114350|9q34.1 Leukemia, T-cell acute lymphoblastoid (2) |LYL1|151440|19p13.2-p13.1 Leukemia, T-cell acute lymphocytic (2) |TLX1, HOX11, TCL3|186770|10q24 Leukemia, acute T-cell (2) |LMO2, RBTNL1, RHOM2, TTG2|180385|11p13 Leukemia, acute T-cell (2) |TCL2|151390|11p13 Leukemia, acute T-cell lymphoblastic (3) |AF10|602409|10p12 Leukemia, acute T-cell lymphoblastic (3) |CALM, CLTH|603025|11q14 Leukemia, acute T-cell lymphoblastic (3) |SETBP1, KIAA0437, SEB|611060|18q21.1 Leukemia, acute lymphoblastic (1) |TCF3, E2A|147141|19p13.3 Leukemia, acute lymphoblastic (2) |LALL|247640|9p22-p21 Leukemia, acute lymphoblastic (3) |FLT3|136351|13q12 Leukemia, acute lymphoblastic (3) |IKZF1, ZNFN1A1, IK1, LYF1|603023|7p12 Leukemia, acute lymphoblastic (3) |NBS1, NBS|602667|8q21 Leukemia, acute lymphocytic (3) |BCR, CML, PHL, ALL|151410|22q11.21 Leukemia, acute myeloblastic (3) |ARNT|126110|1q21 Leukemia, acute myelogenous (3) |KRAS2, RASK2, NS3|190070|12p12.1 Leukemia, acute myelogenous, 601626 (2) |AMLCR2|602439|16q22 Leukemia, acute myelogenous, 601626 (3) |GMPS|600358|3q24 Leukemia, acute myelogenous, 601626 (3) |JAK2|147796|9p24 Leukemia, acute myeloid, 601626 (1) |MLF1|601402|3q25.1 Leukemia, acute myeloid, 601626 (1) |NSD1, ARA267, STO|606681|5q35 Leukemia, acute myeloid, 601626 (1) |SH3GL1, EEN|601768|19p13.3 Leukemia, acute myeloid, 601626 (3) |AF10|602409|10p12 Leukemia, acute myeloid, 601626 (3) |ARHGEF12, LARG, KIAA0382|604763|11q23.3 Leukemia, acute myeloid, 601626 (3) |CALM, CLTH|603025|11q14 Leukemia, acute myeloid, 601626 (3) |CEBPA, CEBP|116897|19q13.1 Leukemia, acute myeloid, 601626 (3) |FLT3|136351|13q12 Leukemia, acute myeloid, 601626 (3) |KIT, PBT|164920|4q12 Leukemia, acute myeloid, 601626 (3) |LPP|600700|3q28 Leukemia, acute myeloid, 601626 (3) |NPM1|164040|5q35 Leukemia, acute myeloid, 601626 (3) |NUP214, D9S46E, CAN, CAIN|114350|9q34.1 Leukemia, acute myeloid, 601626 (3) |RUNX1, CBFA2, AML1|151385|21q22.3 Leukemia, acute myeloid, 601626 (3) |WHSC1L1, NSD3|607083|8p12 Leukemia, acute myeloid, M2 type (1) |CSF2RA|306250|Xp22.32 Leukemia, acute myeloid, reduced survival in (3) |FLT3|136351|13q12 Leukemia, acute myeloid, somatic, 601626 (3) |ETV6, TEL|600618|12p13 Leukemia, acute myeloid, therapy-related (1) |SEPT9, MSF, MSF1, NAPB|604061|17q25 Leukemia, acute myeloid, with eosinophilia (1) |ABL2, ABLL, ARG|164690|1q24-q25 Leukemia, acute myelomonocytic (3) |AF1Q|604684|1q21 Leukemia, acute nonlymphocytic (2) |DEK, D6S231E|125264|6p23 Leukemia, acute pre-B-cell (2) |PBX1|176310|1q23 Leukemia, acute promyelocytic (1) |RARA|180240|17q21.1 Leukemia, acute promyelocytic, NPM/RARA type (3) |NPM1|164040|5q35 Leukemia, acute promyelocytic, NUMA/RARA type (3) |NUMA1|164009|11q13 Leukemia, acute promyelocytic, PL2F/RARA type (3) |ZNF145, PLZF|176797|11q23.1 Leukemia, acute promyelocytic, PML/RARA type (3) |PML, MYL|102578|15q22 Leukemia, acute promyelocytic, STAT5B/RARA type (3) |STAT5B|604260|17q11.2 Leukemia, chronic lymphocytic, B-cell (2) |D13S25, DBM|109543|13q14 Leukemia, chronic myeloid, 608232 (3) |BCR, CML, PHL, ALL|151410|22q11.21 Leukemia, juvenile myelomonocytic, 607785 (3) |ARHGAP26, GRAF|605370|5q31 Leukemia, juvenile myelomonocytic, 607785 (3) |NF1, VRNF, WSS, NFNS|162200|17q11.2 Leukemia, juvenile myelomonocytic, 607785 (3) |PTPN11, PTP2C, SHP2, NS1|176876|12q24.1 Leukemia, lymphycytic, acute T-cell (1) |NUP98|601021|11p15 Leukemia, megakaryoblastic, of Down syndrome, 190685 (3) |GATA1, GF1, ERYF1, NFE1|305371|Xp11.23 Leukemia, megakaryoblastic, with or without Down syndrome, 190685 (3) |GATA1, GF1, ERYF1, NFE1|305371|Xp11.23 Leukemia, myeloid/lymphoid or mixed-lineage (2) |MLL, HRX, HTRX1|159555|11q23 Leukemia, transient, of Down syndrome (2) |TAM, MST|159595|21q11.2 Leukemia-1, T-cell acute lymphocytic (3) |TAL1, TCL5, SCL|187040|1p32 Leukemia-2, T-cell acute lymphoblastic (3) |TAL2|186855|9q31 Leukemia/lymphoma, B-cell, 2 (3) |BCL2|151430|18q21.3 Leukemia/lymphoma, B-cell, 3 (2) |BCL3|109560|19q13 Leukemia/lymphoma, T-cell (2) |TCL1A, TCL1|186960|14q32.1 Leukemia/lymphoma, T-cell (2) |TCL1B, TML1|603769|14q32.1 Leukemia/lymphoma, T-cell (2) |TCL4|186860|2q34 Leukemia/lymphoma, T-cell (3) |TCRA|186880|14q11.2 Leukemia/lymphoma, chronic B-cell, 151400 (3) |CCND1, PRAD1, BCL1|168461|11q13 Leukocyte adhesion deficiency, 116920 (3) |ITGB2, CD18, LCAMB, LAD|600065|21q22.3 Leukodystrophy, adult-onset, autosomal dominant, 169500 (3) |LMNB1|150340|5q23.3-q31.1 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3) |DARS2, ASPRS. LBSL|610956|1q25.1 Leukoencephalopathy with dystonia and motor neuropathy (3) |SCP2|184755|1p32 Leukoencephalopathy with vanishing white matter, 603896 (3) |EIF2B1, EIF2BA|606686|Chr.12 Leukoencephalopathy with vanishing white matter, 603896 (3) |EIF2B2|606454|14q24 Leukoencephalopathy with vanishing white matter, 603896 (3) |EIF2B3|606273|1p34.1 Leukoencephalopathy with vanishing white matter, 603896 (3) |EIF2B5, LVWM, CACH, CLE|603945|3q27 Leukoencephaly with vanishing white matter, 603896 (3) |EIF2B4|606687|2p23.3 Leukotriene C4 synthase deficiency (1) |LTC4S|246530|5q35 Leydig cell adenoma, with precocious puberty (3) |LHCGR|152790|2p21 Lhermitte-Duclos syndrome (3) |PTEN, MMAC1|601728|10q23.31 Li Fraumeni syndrome, 151623 (3) |CDKN2A, MTS1, P16, MLM, CMM2|600160|9p21 Li-Fraumeni syndrome 3 (2) |LFS3|609266|1q23 Li-Fraumeni syndrome, 151623 (3) |TP53, P53, LFS1|191170|17p13.1 Li-Fraumeni syndrome, 609265 (3) |CHEK2, RAD53, CHK2, CDS1, LFS2|604373|22q12.1 Liddle syndrome, 177200 (3) |SCNN1B|600760|16p13-p12 Liddle syndrome, 177200 (3) |SCNN1G, PHA1|600761|16p13-p12 Limb-girdle muscular dystrophy, type 1G (2) |LGMD1G|609115|4q21 Limb-mammary syndrome, 603543 (3) |TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS, OFC8|603273|3q27 Lipase deficiency, combined, 246650 (3) |LMF1, TMEM112|611761|16p13.3 Lipodystrophy, congenital generalized, type 1, 608594 (3) |AGPAT2, LPAAB, BSCL, BSCL1|603100|9q34.3 Lipodystrophy, congenital generalized, type 2, 269700 (3) |BSCL2, SPG17, HMN5|606158|11q13 Lipodystrophy, familial partial, 151660 (3) |LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B|150330|1q21.2 Lipodystrophy, familial partial, 151660 (3) |LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B|150330|1q21.2 Lipodystrophy, familial partial, 151660 (3) |PPARG, PPARG1, PPARG2|601487|3p25 Lipodystrophy, familial partial, with decreased subcutaneous fat of face and neck (3) |PPARGC1A, PPARGC1|604517|4p15.1 Lipodystrophy, partial, acquired, 608709 (3) |LMNB2, LMN2|150341|19p13.3 Lipoid adrenal hyperplasia, 201710 (3) |STAR|600617|8p11.2 Lipoid congenital adrenal hyperplasia, 201710 (3) |CYP11A, P450SCC|118485|15q23-q24 Lipoid proteinosis, 247100 (3) |ECM1|602201|1q21 Lipoma (1) (?) |HMGA1, HMGIY|600701|6p21 Lipoma (3) |HMGA2, HMGIC, BABL, LIPO, STQTL9|600698|12q14.3 Lipoma (3) |LPP|600700|3q28 Lipoma, somatic (3) |MEN1|131100|11q13 Lipomatosis, multiple, 151900 (3) |HMGA2, HMGIC, BABL, LIPO, STQTL9|600698|12q14.3 Lipoprotein glomerulopathy, 611771 (3) |APOE, AD2, LPG|107741|19q13.2 Lipoprotein lipase deficiency, 238600 (3) |LPL, LIPD, HDLCQ11|609708|8p22 Liposarcoma (1) |LPSA, D19S381E|164953|19p13.2-q13.3 Lissencephaly 3, 611603 (3) |TUBA1A, TUBA3, LIS3|602529|12q12-q14 Lissencephaly syndrome, Norman-Roberts type, 257320 (3) |RELN, RL|600514|7q22 Lissencephaly, X-linked with ambiguous genitalia, 300215 (3) |ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43|300382|Xp22.13 Lissencephaly, X-linked, 300067 (3) |DCX, DBCN, LISX|300121|Xq22.3-q23 Lissencephaly-1, 607432 (3) |PAFAH1B1, LIS1|601545|17p13.3 Loeys-Dietz syndrome, type 1A, 609129 (3) |TGFBR1, ALK5, AAT5, LDS2A, LDS1A|190181|9q33-q34 Loeys-Dietz syndrome, type 1B, 610168 (3) |TGFBR2, HNPCC6, AAT3, MFS2, LDS1B, LDS2B|190182|3p22 Loeys-Dietz syndrome, type 2A, 608967 (3) |TGFBR1, ALK5, AAT5, LDS2A, LDS1A|190181|9q33-q34 Loeys-Dietz syndrome, type 2B, 610380 (3) |TGFBR2, HNPCC6, AAT3, MFS2, LDS1B, LDS2B|190182|3p22 Long QT syndrome-1, 192500 (3) |KCNQ1, KCNA9, LQT1, KVLQT1, ATFB1, SQT2|607542|11p15.5 Long QT syndrome-10, 611819 (3) |SCN4B|608256|11q23 Long QT syndrome-11, 611820 (3) |AKAP9, YOTIAO, AKAP450|604001|7q21-q22 Long QT syndrome-2 (3) |KCNH2, LQT2, HERG, SQT1|152427|7q35-q36 Long QT syndrome-3, 603830 (3) |SCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2|600163|3p21 Long QT syndrome-4, 600919 (3) |ANK2, LQT4|106410|4q25-q27 Long QT syndrome-5 (3) |KCNE1, JLNS, LQT5|176261|21q22.1-q22.2 Long QT syndrome-6 (3) |KCNE2, MIRP1, LQT6|603796|21q22.1 Long QT syndrome-7, 170390 (3) |KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3|600681|17q23.1-q24.2 Long QT syndrome-9, 611818 (3) |CAV3, LGMD1C, LQT9|601253|3p25 Lowe syndrome, 309000 (3) |OCRL, LOCR, OCRL1, NPHL2|300535|Xq26.1 Lung cancer, 211980 (1) |DLEC1, DLC1|604050|3p22-p21.3 Lung cancer, 211980 (2) |RASSF1|605082|3p21.3 Lung cancer, 211980 (3) |KRAS2, RASK2, NS3|190070|12p12.1 Lung cancer, 211980 (3) |PPP2R1B|603113|11q22-q24 Lung cancer, 211980 (3) |SLC22A1L, BWSCR1A, IMPT1|602631|11p15.5 Lung cancer, somatic, 211980 (3) |MAP3K8, COT, EST, TPL2|191195|10p11.2 Lymphangioleiomyomatosis, 606690 (3) |TSC1, LAM|605284|9q34 Lymphangioleiomyomatosis, somatic, 606690 (3) |TSC2, LAM|191092|16p13.3 Lymphedema and ptosis, 153000 (3) |FOXC2, FKHL14, MFH1|602402|16q24.3 Lymphedema, hereditary I, 153100 (3) |FLT4, VEGFR3, PCL, LMPH1A|136352|5q35.3 Lymphedema, hereditary II, 153200 (3) |FOXC2, FKHL14, MFH1|602402|16q24.3 Lymphedema, hereditary, IB (2) |LMPH1B|611944|6q16.2-q22.1 Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus (3) |FOXC2, FKHL14, MFH1|602402|16q24.3 Lymphedema-distichiasis syndrome, 153400 (3) |FOXC2, FKHL14, MFH1|602402|16q24.3 Lymphocytic leukemia, acute T-cell (3) |RAP1GDS1|179502|4q21-q25 Lymphoma, B-cell (2) |BCL6|109565|3q27 Lymphoma, B-cell non-Hodgkin, somatic (3) |ATM, ATA, AT1|607585|11q22.3 Lymphoma, MALT (3) |BCL10|603517|1p22 Lymphoma, diffuse large B-cell (2) |IL21R|605383|16p11 Lymphoma, diffuse large cell (3) |BCL8|601889|15q11-q13 Lymphoma, follicular (3) |BCL10|603517|1p22 Lymphoma, mantle cell (3) |ATM, ATA, AT1|607585|11q22.3 Lymphoma, non-Hodgkin (3) |RAD54B|604289|8q21.3-q22 Lymphoma, non-Hodgkin (3) |RAD54L, HR54, HRAD54|603615|1p32 Lymphoma, non-Hodgkin, 605027 (3) |PRF1, HPLH2, FLH2|170280|10q22 Lymphoma, somatic (3) |MAD1L1, TXBP181|602686|7p22 Lymphoma/leukemia, B-cell, variant (1) |FVT1|136440|18q21.3 Lymphoplasmacytoid lymphoma (1) |PAX5, BSAP|167414|9p13 Lymphoproliferative syndrome, X-linked, 2, 300635 (3) |BIRC4, API3, XIAP, XLP2|300079|Xq25 Lymphoproliferative syndrome, X-linked, 308240 (3) |SH2D1A, LYP, IMD5, XLP, XLPD|300490|Xq25 Lynch cancer family syndrome II (2) (?) |LCFS2|114400|18q11-q12 Lysinuric protein intolerance, 222700 (3) |SLC7A7, LPI|603593|14q11.2 Lysosomal acid phosphatase deficiency, 200950 (1) (?) |ACP2|171650|11p12-p11 MALT lymphoma (3) |MALT1, MLT|604860|18q21 MASA syndrome, 303350 (3) |L1CAM, CAML1, HSAS1|308840|Xq28 MASP2 deficiency (3) |MASP2|605102|1p36.3-p36.2 MASS syndrome, 604308 (3) |FBN1, MFS1, WMS|134797|15q21.1 MEHMO syndrome (2) |MEHMO|300148|Xp22.13-p21.1 MHC class II deficiency, complementation group B, 209920 (3) |RFXANK|603200|19p12 MODY, one form, 125850 (3) |INS|176730|11p15.5 MODY, type I, 125850 (3) |HNF4A, TCF14, MODY1|600281|20q12-q13.1 MODY, type II, 125851 (3) |GCK, HHF3|138079|7p15-p13 MODY, type III, 600496 (3) |HNF1A, TCF1, MODY3|142410|12q24.2 MODY, type IV (3) |IPF1|600733|13q12.1 Machado-Joseph disease, 109150 (3) |ATXN3, MJD, SCA3|607047|14q24.3-q31 Macrocephaly with multiple epiphyseal dysplasia and distinctive facies (2) |MMEDF|607131|15q26.1 Macrocephaly/autism s |PTEN, MMAC1|601728|10q23.31 Macrocytic anemia, refractory, of 5q- syndrome, 153550 (3) |IRF1, MAR|147575|5q31.1 Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3) |MYH9, MHA, FTNS, DFNA17|160775|22q11.2 Macrothrombocytopenia, 300367 (3) |GATA1, GF1, ERYF1, NFE1|305371|Xp11.23 Macular corneal dystrophy, 217800 (3) |CHST6, MCDC1|605294|16q22 Macular degeneration, X-linked atrophic (3) |RPGR, RP3, CRD, RP15, COD1|312610|Xp21.1 Macular degeneration, age-related, 11, 611953 (3) |CST3, ARMD11|604312|20p11.2 Macular degeneration, age-related, 2, 153800 (3) |ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2|601691|1p21-p13 Macular degeneration, age-related, 3, 608895 (3) |FBLN5, ARMD3|604580|14q32.1 Macular degeneration, age-related, 6 (3) |RAXL1, QRX, CORD11, ARMD6|610362|19p13.3 Macular degeneration, juvenile, 248200 (3) |CNGB3, ACHM3|605080|8q21-q22 Macular dystrophy (3) |RDS, RP7, PRPH2, PRPH, AVMD, AOFMD|179605|6p21.1-cen Macular dystrophy 2, Bull's eye (2) |MCDR2|608051|4p16.3-p15.2 Macular dystrophy, North Carolina type (2) |MCDR1|136550|6q14-q16.2 Macular dystrophy, atypical vitelliform (2) |VMD1|153840|8q24 Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110 (3) |ELOVL4, ADMD, STGD2, STGD3|605512|6q14 Macular dystrophy, dominant cystoid (2) |MDDC|153880|7p21-p15 Macular dystrophy, vitelliform type, 153700 (3) |BEST1, VMD2, ARB|607854|11q13 Macular dystrophy, vitelliform, 608161 (3) |RDS, RP7, PRPH2, PRPH, AVMD, AOFMD|179605|6p21.1-cen Maculopathy, bull's-eye, 153870 (3) |BEST1, VMD2, ARB|607854|11q13 Major affective disorder 3, early onset (2) |MAFD3, BPEO|609633|21q22.13 Major affective disorder 4 (2) |MAFD4, BPAD|611247|16p12 Major depressive disorder 1, 608516 (2) |MDD1|608520|12q22-q23.2 Major depressive disorder 2, 608516 (2) |MDD2|608691|15q25.3-q26.2 Male germ cell tumor (2) |MGCT|273300|12q22 Male infertility (1) (?) |UBE2B, RAD6B|179095|5q23-q31 Male infertility due to acrosin deficiency (2) (?) |ACR|102480|22q13.3 Male infertility with large-headed, multiflagellar, polyploid spermatozoa, 243060 (3) |STK13, AIE2|603495|19q13.3-qter Male pseudohermaphroditism due to defective LH (1) (?) |LHB|152780|19q13.32 Malignant fibrous histiocytoma (2) |MFHAS1, MASL1|605352|8p23.1 Malignant melanoma, cutaneous (2) |CMM, MLM, DNS|155600|1p36 Malonyl-CoA decarboxylase deficiency, 248360 (3) |MLYCD, MCD|606761|16q24 Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3) |ZMPSTE24, FACE1, STE24, MADB|606480|1p34 Mandibuloacral dysplasia, 248370 (3) |LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B|150330|1q21.2 Mandibuloacral dysplasia, 248370 (3) |LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B|150330|1q21.2 Manic-depressive illness, X-linked (2) (?) |MAFD2, MDX|309200|Xq28 Mannose-binding protein deficiency (3) |MBL2, MBL, MBP1|154545|10q11.2-q21 Mannosidosis, alpha-, types I and II, 248500 (3) |MAN2B1, MANB|609458|19cen-q12 Mannosidosis, beta, 248510 (3) |MANBA, MANB1|609489|4q22-q25 Maple syrup urine disease, type II, 248600 (3) |DBT, BCATE2|248610|1p31 Maple syrup urine disease, type III, 248600 (3) |DLD, LAD, PHE3|238331|7q31-q32 Maple syrup urine disease, type Ia, 248600 (3) |BCKDHA, MSUD1|608348|19q13.1-q13.2 Maple syrup urine disease, type Ib, 248600 (3) |BCKDHB, E1B|248611|6q14 Marfan syndrome, 154700 (3) |FBN1, MFS1, WMS|134797|15q21.1 Marfan syndrome, atypical (3) |COL1A2|120160|7q22.1 Marinesco-Sjogren syndrome, 248800 (3) |SIL1, BAP, MSS|608005|5q31 Maroteaux-Lamy syndrome, several forms, 253200 (3) |ARSB, MPS6|611542|5q11-q13 Marshall syndrome, 154780 (3) |COL11A1, STL2|120280|1p21 Martin-Probst deafness-mental retardation syndrome (2) |MPDMRS|300519|Xq11-q21 Martsolf syndrome, 212720 (3) |RAB3GAP2, RAB3GAP150, p150, KIAA0839|609275|1q41 Mast cell leukemia (3) |KIT, PBT|164920|4q12 Mast syndrome, 248900 (3) |ACP33, MAST, SPG21|608181|15q21-q22 Mastocytosis with associated hematologic disorder (3) |KIT, PBT|164920|4q12 Maturity-onset diabetes of the young, type VII, 610508 (3) |KLF11, TIEG2, FKLF1, FKLF, MODY7|603301|2p25 Maturity-onset diabetes of the young, type VIII, 609812 (3) |CEL, BSSL, CELL, MODY8|114840|9q34.3 May-Hegglin anomaly, 155100 (3) |MYH9, MHA, FTNS, DFNA17|160775|22q11.2 McArdle disease, 232600 (3) |PYGM|608455|11q13 McCune-Albright syndrome, 174800 (3) |GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO|139320|20q13.2 McKusick-Kaufman syndrome, 236700 (3) |MKKS, HMCS, KMS, MKS, BBS6|604896|20p12 McLeod syndrome (3) |XK|314850|Xp21.2-p21.1 McLeod syndrome with neuroacanthosis (3) |XK|314850|Xp21.2-p21.1 Meckel syndrome type 4, 611134 (3) |CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10|610142|12q21.3 Meckel syndrome, type 1, 249000 (3) |MKS1, MKS|609883|17q23 Meckel syndrome, type 2 (2) |MKS2|603194|11q13 Meckel syndrome, type 3, 607361 (3) |TMEM67, MKS3, JBTS6|609884|8q21.13-q22.1 Medullary cystic kidney disease 1 (2) |MCKD1|174000|1q21 Medullary cystic kidney disease 2, 603860 (3) |UMOD, HNFJ, FJHN, MCKD2, ADMCKD2|191845|16p12.3 Medullary thyroid carcinoma, 155240 (3) |RET, MEN2A|164761|10q11.2 Medullary thyroid carcinoma, familial, 155240 (3) |NTRK1, TRKA, MTC|191315|1q21-q22 Medulloblastoma, 155255 (2) |DMBT1|601969|10q25.3-q26.1 Medulloblastoma, 155255 (3) |PTCH2|603673|1p32 Medulloblastoma, desmoplastic, 155255 (3) |SUFU, SUFUXL, SUFUH|607035|10q24-q25 Meesmann corneal dystrophy, 122100 (3) |KRT12|601687|17q12 Meesmann corneal dystrophy, 122100 (3) |KRT3|148043|12q13 Megacystis-microcolon-intestinal hypoperistalsis syndrome, 249210 (1) (?) |CHRNA3|118503|15q24 Megakaryoblastic leukemia, acute (2) |RBM15, SPEN, OTT|606077|1p13 Megakaryoblastic leukemia, acute (3) |MKL1, AMKL, MAL|606078|22q13 Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3) |MLC1, LVM, VL|605908|22q13.33 Megaloblastic anemia-1, Finnish type, 261100 (3) |CUBN, IFCR, MGA1|602997|10p12.1 Megaloblastic anemia-1, Norwegian type, 261100 (3) |AMN|605799|14q32 Megalocornea, X-linked (2) |MGC1, MGCN|309300|Xq21.3-q22 Melanoma and neural system tumor syndrome, 155755 (3) |CDKN2A, MTS1, P16, MLM, CMM2|600160|9p21 Melanoma metastasis, modification of (1) |SNAI2, SLUG, WS2D|602150|8q11 Melanoma, 609048 (3) |CDK4, CMM3|123829|12q14 Melanoma, cutaneous malignant, 2, 155601 (3) |CDKN2A, MTS1, P16, MLM, CMM2|600160|9p21 Melanoma, cutaneous malignant, 4, 155600 (2) |CMM4|608035|1p22 Melanoma, desmoplastic neurotropic (2) |NF1, VRNF, WSS, NFNS|162200|17q11.2 Melanoma, malignant sporadic (3) |STK11, PJS, LKB1|602216|19p13.3 Melanoma, melignant, somatic (3) |BRAF|164757|7q34 Meleda disease, 248300 (3) |SLURP1, MDM|606119|8qter Melkersson-Rosenthal syndrome (2) (?) |MROS|155900|9p11 Melnick-Needles syndrome, 309350 (3) |FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS|300017|Xq28 Melorheostosis with osteopoikilosis, 155950 (3) |LEMD3, MAN1|607844|12q14 Membranoproliferative glomerulonephritis with CFH deficiency, 609814 (3) |HF1, CFH, HUS, ARMD4|134370|1q32 Membranous glomerulonephritis, antenatal (1) |MME, CD10, CALLA, NEP|120520|3q21-q27 Meniere disease 156000 (3) (?) |COCH, DFNA9|603196|14q12-q13 Meningioma, 607174 (3) |MN1, MGCR|156100|22q12.3-qter Meningioma, 607174 (3) |PTEN, MMAC1|601728|10q23.31 Meningioma, NF2-related, somatic, 607174 (3) |NF2|607379|22q12.2 Meningioma, SIS-related (3) |PDGFB, SIS|190040|22q12.3-q13.1 Meningioma, radiation-induced (2) |MNRI|606190|1p11 Menkes disease, 309400 (3) |ATP7A, MNK, MK, OHS|300011|Xq12-q13 Mental retardaion, autosomal recessive, 5 (2) |MRT5|611091|5p15-p14 Mental retardation in cri-du-chat syndrome, 123450 (2) |CTNND2, NPRAP|604275|5p15.2 Mental retardation syndrome, X-linked, Abidi type (2) |MRXSAB|300262|Xq13.2 Mental retardation syndrome, X-linked, Armfield type (2) |MRXSA|300261|Xq28 Mental retardation syndrome, X-linked, Cabezas type, 300354 (3) |CUL4B, MRXSC, MRXHF2, SFM2|300304|Xq23 Mental retardation syndrome, X-linked, Lubs type (2) |MRXSL|300260|Xq28 Mental retardation syndrome, X-linked, Siderius type, 300263 (3) |PHF8, ZNF422, KIAA1111, MRXSSD|300560|Xp11.2 Mental retardation, FRA12A type, 136630 (3) |DIP2B, KIAA1463|611379|12q13.12 Mental retardation, X-linked 14 (2) |MRX14|300062|Xp11.3-q13.3 Mental retardation, X-linked 20 (2) |MRX20|300047|Xp11-q21 Mental retardation, X-linked 23, nonspecific (2) |MRX23|300046|Xq23-q24 Mental retardation, X-linked 29 (2) |MRX29|300077|Xp22.3-p21.3 Mental retardation, X-linked 30, 300558 (3) |PAK3, MRX30, MRX47|300142|Xq21.3-q24 Mental retardation, X-linked 36/43/54, 300419 (3) |ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43|300382|Xp22.13 Mental retardation, X-linked 45, 300498 (3) |ZNF81, MRX45|314998|Xp22.1-p11 Mental retardation, X-linked 52 (2) |MRX52|300504|Xp11.21-q22.3 Mental retardation, X-linked 58, 300210 (3) |TM4SF2, MXS1, A15, MRX58|300096|Xq11 Mental retardation, X-linked 59, 300630 (3) |AP1S2, MRX59|300629|Xp22 Mental retardation, X-linked 77 (2) |MRX77|300454|Xq12-q21.3 Mental retardation, X-linked 78 (2) |MRX78|300551|Xp11.4-p11.23 Mental retardation, X-linked 81 (2) |MRX81|300433|Xp11.2-q12 Mental retardation, X-linked 82 (2) |MRX82|300518|Xq24-q25 Mental retardation, X-linked 84 (2) |MRX84|300505|Xp11.3-q22.3 Mental retardation, X-linked 93, 300659 (3) |BRWD3, MRX93|300553|Xq13 Mental retardation, X-linked 94, 300699 (3) |GRIA3, GLUR3, MRX94|305915|Xq25-q26 Mental retardation, X-linked nonspecific, 309541 (3) |GDI1, RABGD1A, MRX41, MRX48|300104|Xq28 Mental retardation, X-linked nonspecific, 42 (2) |MRX42|300372|Xq26 Mental retardation, X-linked nonspecific, 63, 300387 (3) |FACL4, ACS4, MRX63|300157|Xq22.3 Mental retardation, X-linked nonspecific, type 19 (3) |RPS6KA3, RSK2, MRX19|300075|Xp22.2-p22.1 Mental retardation, X-linked nonspecific, type 46, 300436 (3) |ARHGEF6, MRX46, COOL2|300267|Xq26 Mental retardation, X-linked nonspecific, type 50 (2) |MRX50|300115|Xp11.3-p11.21 Mental retardation, X-linked nonsyndromic (3) |FGD1, FGDY, AAS|300546|Xp11.21 Mental retardation, X-linked, 1 (2) |MRX1|309530|Xp11.3-q21.1 Mental retardation, X-linked, 2 (2) |MRX2|300428|Xp22.3 Mental retardation, X-linked, 21/34, 300143 (3) |IL1RAPL1, IL1R8, MRX21, MRX34|300206|Xp22.1-p21.3 Mental retardation, X-linked, 300495 (3) |NLGN4, KIAA1260, AUTSX2, ASPGX2|300427|Xp22.33 Mental retardation, X-linked, FRAXE type (3) |FMR2, FRAXE, MRX2|309548|Xq28 Mental retardation, X-linked, Lubs type, 300260 (3) |MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16|300005|Xq28 Mental retardation, X-linked, Shashi type (2) |MRXS11, SMRXS|300238|Xq26-q27 Mental retardation, X-linked, Snyder-Robinson type, 309583 (3) |SMS, SRS, MRSR|300105|Xp22.1 Mental retardation, X-linked, South African type (2) |MRSA|300243|Xq24-q27.3 Mental retardation, X-linked, syndromic 12 (2) (?) |MRXS12|309545|Xp11 Mental retardation, X-linked, syndromic 13, 300055 (3) |MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16|300005|Xq28 Mental retardation, X-linked, syndromic 14, 300676 (3) |UPF3B, RENT3B, MRXS14|300298|Xq25-q26 Mental retardation, X-linked, syndromic 7 (2) |MRXS7|300218|Xp11.3-q22 Mental retardation, X-linked, syndromic, JARID1C-related, 300534 (3) |SMCX, MRXSJ, DXS1272E, XE169, JARID1C|314690|Xp11.22-p11.21 Mental retardation, X-linked, syndromic-2, with dysmorphism and cerebral atrophy (2) |PRS, MRXS2|309610|Xp11-q21 Mental retardation, X-linked, syndromic-4, with congenital contractures and low fingertip arches (2) |MCS, MRXS4|309605|Xq13-q22 Mental retardation, X-linked, syndromic-5, with Dandy-Walker malformation, basal ganglia disease, and seizures (2) |PGS, MRXS5|304340|Xq25-q27 Mental retardation, X-linked, syndromic-6, with gynecomastia and obesity (2) |WTS, MRXS6|309585|Xp21.1-q22 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3) |OPHN1, MRX60|300127|Xq12 Mental retardation, X-linked, with epilepsy, 300423 (3) |ATP6AP2, ATP6M8-9, XMRE, MRXE|300556|Xp11.4 Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 (3) |SOX3, MRGH|313430|Xq26.3 Mental retardation, X-linked, with short stature (2) |MRSS|300360|Xq24 Mental retardation, X-linked-49 (2) |MRX49|300114|Xp22.3 Mental retardation, X-linked-53 (2) |MRX53|300324|Xq22.2-q26 Mental retardation, X-linked-72 (2) |MRX72|300271|Xq28 Mental retardation, X-linked-88 (3) |AGTR2, MRX88|300034|Xq22-q23 Mental retardation, X-linked-89 (3) |ZNF41, MRX89|314995|Xp22.1-cen Mental retardation, X-linked-9, 309549 (3) |FTSJ1, JM23, SPB1, MRX44, MRX9|300499|Xp11.23 Mental retardation, X-linked-90 (3) |DLG3, NEDLG, SAP102, MRX90|300189|Xq13.1 Mental retardation, X-linked-91, 300577 (3) |ZDHHC15, MRX91|300576|Xq13.3 Mental retardation, X-linked-92 (3) |ZNF674, MRX92|300573|Xp11 Mental retardation, autosomal dominant 1, 156200 (3) |MBD5, KIAA1461, MRD1|611472|2q23.1 Mental retardation, autosomal dominant 2 (3) |DOCK8, MRD2|611432|9p24 Mental retardation, autosomal recessive 1, 249500 (3) |PRSS12, BSSP3, MRT1|606709|4q25-q26 Mental retardation, autosomal recessive 2A, 607417 (3) |CRBN, MRT2A|609262|3p26.2 Mental retardation, autosomal recessive 3, 608443 (3) |CC2D1A, MRT3|610055|19p13.12 Mental retardation, autosomal recessive, 10 (2) |MRT10|611096|16p12-q12 Mental retardation, autosomal recessive, 11 (2) |MRT11|611097|19q13.2-q13.3 Mental retardation, autosomal recessive, 12 (2) |MRT12|611090|1p34-p33 Mental retardation, autosomal recessive, 4 (2) |MRT4|611107|1p21.1-p13.3 Mental retardation, autosomal recessive, 6, 611092 (3) |GRIK2, GLUR6, MRT6|138244|6q21 Mental retardation, autosomal recessive, 7 (2) |MRT7|611093|8p12 Mental retardation, autosomal recessive, 8 (2) |MRT8|611094|10q22 Mental retardation, autosomal recessive, 9 (2) |MRT9|611095|14q11.2-q12 Mental retardation, profound (2) |RLGP|300405|Xq22.2 Mental retardation, severe, with spasticity and tapetoretinal degeneration (2) |MRST|602685|15q24 Mental retardation-hypotonic facies syndrome, X-linked, 2, 300639 (3) |CUL4B, MRXSC, MRXHF2, SFM2|300304|Xq23 Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3) |ATRX, XH2, XNP, SHS, SFM1, MRXHF1|300032|Xq13 Mental retardation-skeletal dysplasia (2) |MRSD, CHRS|309620|Xq28 Mephenytoin poor metabolizer (3) |CYP2C, CYP2C19|124020|10q24.1-q24.3 Merkel cell carcinoma, somatic (3) |SDHD, PGL1|602690|11q23 Mesangial sclerosis, isolated diffuse, 256370 (3) |WT1|607102|11p13 Mesomelic dysplasia, Kantaputra type (2) |MMDK, MDK|156232|2q24-q32 Mesothelioma (3) |BCL10|603517|1p22 Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3) |PSAP, SAP1|176801|10q22.1 Metachromatic leukodystrophy, 250100 (3) |ARSA|607574|22q13.31-qter Metaphyseal chondrodysplasia, Murk Jansen type, 156400 (3) |PTHR1, PTHR|168468|3p22-p21.1 Metaphyseal chondrodysplasia, Schmid type (3) |COL10A1|120110|6q21-q22.3 Metaphyseal dysplasia without hypotrichosis, 250460 (3) |RMRP, RMRPR, CHH|157660|9p21-p12 Metastasis efficiency, modification of (1) |SIPA1, SPA1|602180|11q13.3 Methemoglobinemia due to cytochrome b5 deficiency (3) |CYB5A, MCB5|250790|18q23 Methemoglobinemia, type I (3) |DIA1|250800|22q13.31-qter Methemoglobinemia, type II (3) |DIA1|250800|22q13.31-qter Methemoglobinemias, alpha- (3) |HBA1|141800|16pter-p13.3 Methemoglobinemias, beta- (3) |HBB|141900|11p15.5 Methionine adenosyltransferase deficiency, autosomal recessive (3) |MAT1A, MATA1, SAMS1|250850|10q22 Methylcobalamin deficiency, cblG type, 250940 (3) |MTR|156570|1q43 Methylmalonate semialdehyde dehydrogenase deficiency (3) |ALDH6A1, MMSDH|603178|14q24.3 Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3) |MMACHC|609831|1p34.1 Methylmalonic aciduria, mut(0) type, 251000 (3) |MUT, MCM|609058|6p21 Methylmalonic aciduria, vitamin B12-responsive, 251100 (3) |MMAA|607481|4q31.1-q31.2 Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3) |MMAB|607568|12q24 Mevalonicaciduria (3) |MVK, MVLK|251170|12q24 Micochondrial phosphate carrier deficiency, 610773 (3) |SLC25A3, PHC|600370|12q23 Microcephaly and digital abnormalities with normal intelligence, 602585 (3) |MYCN, NMYC, ODED, MODED|164840|2p24.1 Microcephaly, Amish type, 607196 (3) |SLC25A19, DNC, MUP1, MCPHA|606521|17q25.3 Microcephaly, autosomal recessive 1, 251200 (3) |MCPH1|607117|8p23 Microcephaly, primary autosomal recessive, 2, 251200 (2) |MCPH2|604317|19q13.1-q13.2 Microcephaly, primary autosomal recessive, 3, 604804 (3) |CDK5RAP2, KIAA1633, MCPH3|608201|9q33.3 Microcephaly, primary autosomal recessive, 4, 251200 (2) |MCPH4|604321|15q15-q21 Microcephaly, primary autosomal recessive, 5, 608716 (3) |ASPM, MCPH5|605481|1q31 Microcephaly, primary autosomal recessive, 6, 608393 (3) |CEMPJ, CPAP, MCPH6|609279|13q12.2 Microcoria, congenital (2) |MCOR|156600|13q31-q32 Microdeletion 17q21.31 syndrome (2) |DEL17q21.31|610443|17q21.31 Microhydranencephaly (2) |MHAC|605013|16p13.3-p12.1 Micropenis (3) |LHCGR|152790|2p21 Microphthalmia, isolated 1 (2) |MCOP1|251600|14q32 Microphthalmia, isolated 2, 610093 (3) |CHX10, HOX10, MCOP2, MCOPCB3|142993|14q24.3 Microphthalmia, isolated 3, 611038 (3) |RAX, RX, MCOP3|601881|18q21.3 Microphthalmia, isolated, with cataract 1 (2) |MCOPCT1|156850|16p13.3 Microphthalmia, isolated, with cataract 2, 212550 (3) |SIX6, MCOPCT2|606326|14q23 Microphthalmia, isolated, with cataract 4, 610426 (3) |CRYBA4|123631|22q11.2-q13.1 Microphthalmia, isolated, with coloboma 1 (2) |MCOPCB1|300345|Chr.X Microphthalmia, isolated, with coloboma 2 (2) |MCOPCB2|605738|15q12-q15 Microphthalmia, isolated, with coloboma 3, 610092 (3) |CHX10, HOX10, MCOP2, MCOPCB3|142993|14q24.3 Microphthalmia, isolated, with coloboma 5, 611638 (3) |SHH, HPE3, HLP3, SMMCI, MCOPCB5|600725|7q36 Microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen, 611040 (3) |MFRP|606227|11q23 Microphthalmia, syndromic 1 (2) |MCOPS1, MAA, LZMS|309800|Xq27-q28 Microphthalmia, syndromic 2, 300166 (3) |BCOR, KIAA1575, MCOPS2, MAA2, ANOP2|300485|Xp11.4 Microphthalmia, syndromic 3, 206900 (3) |SOX2, MCOPS3|184429|3q26.3-q27 Microphthalmia, syndromic 4 (2) (?) |MCOPS4, ANOP1|301590|Xq27-q28 Microphthalmia, syndromic 5, 610125 (3) |OTX2, MCOPS5|600037|14q21-q22 Microphthalmia, syndromic 6, 607932 (3) |BMP4, BMP2B1, BMP2B, MCOPS6|112262|14q22-q23 Microphthalmia, syndromic 7, 309801 (3) |HCCS, MCOPS7|300056|Xp22 Microphthalmia, syndromic 8, 601349 (3) |SNX3, MCOPS8|605930|6q21 Microphthalmia, syndromic 9, 601186 (3) |STRA6, MCOPS9|610745|15q24.1 Microtia with nasolacrimal duct imperforation and eye coloboma (1) |MNDEC|611863|4p16-p15 Migraine with or without aura, susceptibility to (2) |MGR6, FHM3|607516|1q31 Migraine, familial basilar, 602481 (3) |ATP1A2, FHM2, MHP2|182340|1q21-q23 Migraine, familial hemiplegic (2) |MGR6, FHM3|607516|1q31 Migraine, familial hemiplegic, 2, 602481 (3) |ATP1A2, FHM2, MHP2|182340|1q21-q23 Migraine, familial hemiplegic, 3, 609634 (3) |SCN1A, GEFSP2, SMEI, FEB3|182389|2q24 Migraine, resistance to, 157300 (3) |EDNRA|131243|4q31.2 Miller-Dieker lissencephaly, 247200 (3) |YWHAE, MDCR, MDS|605066|17p13.3 Mirror-image polydactyly, 135750 (1) |MIPOL1|606850|14q13 Mismatch repair cancer syndrome, 276300 (3) |MLH1, COCA2, HNPCC2|120436|3p21.3 Mismatch repair cancer syndrome, 276300 (3) |MSH2, COCA1, FCC1, HNPCC1|609309|2p22-p21 Mismatch repair cancer syndrome, 276300 (3) |MSH6, GTBP, HNPCC5|600678|2p16 Mismatch repair cancer syndrome, 276300 (3) |PMS2, PMSL2, HNPCC4|600259|7p22 Mitochondrial DNA depletion syndrome, enceophalomyopathic form, 609560 (3) |SUCLA2|603921|13q12.2-q13 Mitochondrial DNA depletion syndrome, hepatocerebral form, 251880 (3) |C10orf2, TWINKLE, PEO1, PEOA3, SANDO, IOSCA|606075|10q24 Mitochondrial DNA depletion syndrome, hepatocerebral form, 251880 (3) |MPV17|137960|2p23-p21 Mitochondrial DNA depletion syndrome, myopathic form, 609560 (3) |TK2|188250|16q22 Mitochondrial DNA-depletion syndrome, hepatocerebral form, 251880 (3) |DGUOK, DGK|601465|2p13 Mitochondrial complex I deficiency, 252010 (3) |HRPAP20, C6orf66|611776|6q16.1 Mitochondrial complex I deficiency, 252010 (3) |NDUFA1, MWFE|300078|Xq24 Mitochondrial complex I deficiency, 252010 (3) |NDUFA12L, MMTN, B17.2L|609653|5q12.1 Mitochondrial complex I deficiency, 252010 (3) |NDUFS1|157655|2q33-q34 Mitochondrial complex I deficiency, 252010 (3) |NDUFS2|602985|1q23 Mitochondrial complex I deficiency, 252010 (3) |NDUFS4, AQDQ|602694|5q11.1 Mitochondrial complex I deficiency, 252010 (3) |NDUFV1, UQOR1|161015|11q13 Mitochondrial complex III deficiency, 124000 (3) |BCS1L, FLNMS, GRACILE, BJS, PTD|603647|2q33 Mitochondrial complex III deficiency, 124000 (3) |UQCRB, UQBP, QPC|191330|8q22 Mitochondrial myopathy and sideroblastic anemia, 600462 (3) |PUS1, MLASA|608109|12q24.33 Mitochondrial neurogastrointestinal encephalomyopathy syndrome, 603041 (3) |ECGF1, MNGIE|131222|22q13.32-qter Mitochondrial respiratory chain complex II deficiency, 252011 (3) |SDHA, SDH2, SDHF|600857|5p15 Mitral valve prolapse, myxomatous 1 (2) |MMVP1, MVP, PMV|157700|16p12.1-p11.2 Mitral valve prolapse, myxomatous 2 (2) |MMVP2|607829|11p15.4 Mitral valve prolapse, myxomatous 3 (2) |MMVP3|610840|13q31.3-q32.1 Miyoshi myopathy, 254130 (3) |DYSF, LGMD2B|603009|2p13.3-p13.1 Moebius syndrome (2) (?) |MBS, MBS1|157900|13q12.2-q13 Moebius syndrome-3 (2) |MBS3|604185|10q21.3-q22.1 Mohr-Tranebjaerg syndrome, 304700 (3) |TIMM8A, DFN1, DDP, MTS, DDP1|300356|Xq22 Molybdenum cofactor deficiency, type A, 252150 (3) |MOCS1, MOCOD|603707|6p21.3 Molybdenum cofactor deficiency, type B, 252150 (3) |MOCS2, MPTS|603708|5q11 Molybdenum cofactor deficiency, type C, 252150 (3) |GPH, KIAA1385, GEPH|603930|14q24 Monilethrix, 158000 (3) |KRT81, KRTHB1, HB1|602153|12q13 Monilethrix, 158000 (3) |KRT83, KRTHB3, HB3|602765|12q13 Monilethrix, 158000 (3) |KRT86, KRTHB6, HB6|601928|12q13 Monocyte carboxylesterase deficiency (1) (?) |CES1, SES1|114835|16q13-q22.1 Morning glory disc anomaly (3) |PAX6, AN2, MGDA|607108|11p13 Morquio syndrome B, 253010 (3) |GLB1|611458|3p21.33 Motor neuronopathy, distal hereditary, with vocal cord paralysis (2) |HMN7A, DHMNVP|158580|2q14 Mowat-Wilson syndrome, 235730 (3) |ZEB2, ZFHX1B, SMADIP1, SIP1|605802|2q22 Moyamoya disease (2) |MYMY|252350|3p26-p24.2 Moyamoya disease 2 (2) |MYMY2|607151|17q25 Moyamoya disease 3 (3) |MYMY3|608796|8q23 Muckle-Wells syndrome, 191900 (3) |CIAS1, FCU, FCAS, NALP3, PYPAF1|606416|1q44 Mucoepidermoid salivary gland carcinoma (3) |MAML2, MAM3|607537|11q21 Mucoepidermoid salivary gland carcinoma (3) |MECT1, KIAA0616|607536|19p13 Mucolipidosis II alpha/beta, 252500 (3) |GNPTAB, GNPTA|607840|12q23.3 Mucolipidosis III alpha/beta, 252600 (3) |GNPTAB, GNPTA|607840|12q23.3 Mucolipidosis III gamma, 252605 (3) |GNPTAG|607838|16p Mucolipidosis IV, 252650 (3) |MCOLN1, ML4|605248|19p13.3-p13.2 Mucopolysaccharidosis II (3) |IDS, MPS2, SIDS|309900|Xq28 Mucopolysaccharidosis IVA (3) |GALNS, MPS4A|253000|16q24.3 Mucopolysaccharidosis Ih, 607014 (3) |IDUA, IDA|252800|4p16.3 Mucopolysaccharidosis Ih/s, 607015 (3) |IDUA, IDA|252800|4p16.3 Mucopolysaccharidosis Is, 607016 (3) |IDUA, IDA|252800|4p16.3 Mucopolysaccharidosis VII, 253220 (3) |GUSB, MPS7|611499|7q21.11 Mucopolysaccharidosis type IIID, 252940 (3) |GNS, G6S|607664|12q14 Mucopolysaccharidosis type IX, 601492 (3) |HYAL1|607071|3p21.3-p21.2 Muenke syndrome, 602849 (3) |FGFR3, ACH|134934|4p16.3 Muir-Torre syndrome, 158320 (3) |MLH1, COCA2, HNPCC2|120436|3p21.3 Muir-Torre syndrome, 158320 (3) |MSH2, COCA1, FCC1, HNPCC1|609309|2p22-p21 Mulibrey nanism, 253250 (3) |TRIM37, MUL, KIAA0898|605073|17q22-q23 Multiple cutaneous and uterine leiomyomata, 150800 (3) |FH|136850|1q42.1 Multiple endocrine neoplasia I (3) |MEN1|131100|11q13 Multiple endocrine neoplasia IIA, 171400 (3) |RET, MEN2A|164761|10q11.2 Multiple endocrine neoplasia IIB, 162300 (3) |RET, MEN2A|164761|10q11.2 Multiple endocrine neoplasia, type IV, 610755 (3) |CDKN1B, KIP1, CDKN4, MEN4|600778|12p13 Multiple malignancy syndrome (3) |TP53, P53, LFS1|191170|17p13.1 Multiple mitochondrial dysfunctions syndrome (2) |MMDFS|605711|2p14-p13 Multiple myeloma (3) |IRF4, LSIRF|601900|6p25-p23 Multiple myeloma, 254500 (2) |CCND1, PRAD1, BCL1|168461|11q13 Multiple pterygium syndrome, lethal type, 253290 (3) |CHRNA1, ACHRD, CMS2A, SCCMS, FCCMS|100690|2q24-q32 Multiple pterygium syndrome, lethal type, 253290 (3) |CHRND, ACHRD, SCCMS, CMS2A, FCCMS|100720|2q33-q34 Multiple pterygium syndrome, lethal type, 253290 (3) |CHRNG, ACHRG|100730|2q33-q34 Multiple sulfatase deficiency, 272200 (3) |SUMF1, FGE|607939|3p26 Multiple synostoses syndrome type 1, 6100 |GDF5, CDMP1, SYNS2|601146|20q11.2 Mungen syndrome (2) |MGS|611376|8q23-q24 Muscle glycogenosis, 300559 (3) |PHKA1|311870|Xq13 Muscle hypertrophy (3) |GDF8, MSTN|601788|2q32.2 Muscle-eye-brain disease, 253280 (3) |FKRP, MDC1C, LGMD2I|606596|19q13.3 Muscle-eye-brain disease, 253280 (3) |POMGNT1, MEB|606822|1p34-p33 Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3) |PLEC1, PLTN, EBS1|601282|8q24 Muscular dystrophy with rimmed vacuoles (2) |MDRV|601846|19p13.3 Muscular dystrophy, Fukuyama congenital, 253800 (3) |FKTN, FCMD, CMD1X, LGMD2M|607440|9q31 Muscular dystrophy, congenital merosin-deficient, 607855 (3) |LAMA2, LAMM|156225|6q22-q23 Muscular dystrophy, congenital, 1B (2) |MDC1B|604801|1q42 Muscular dystrophy, congenital, 1C, 606612 (3) |FKRP, MDC1C, LGMD2I|606596|19q13.3 Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3) |LAMA2, LAMM|156225|6q22-q23 Muscular dystrophy, congenital, plus mental retardation, 236670 (3) |POMT1|607423|9q34.1 Muscular dystrophy, congenital, type 1D, 608840 (3) |LARGE, KIAA0609, MDC1D|603590|22q12.3-q13.1 Muscular dystrophy, limb-girdle, type 1A, 159000 (3) |TTID, MYOT|604103|5q31 Muscular dystrophy, limb-girdle, type 1B, 159001 (3) |LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B|150330|1q21.2 Muscular dystrophy, limb-girdle, type 1B, 159001 (3) |LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B|150330|1q21.2 Muscular dystrophy, limb-girdle, type 1D (2) |LGMD1D|603511|7q Muscular dystrophy, limb-girdle, type 1F (2) |LGMD1F|608423|7q32.1-q32.2 Muscular dystrophy, limb-girdle, type 2A, 253600 (3) |CAPN3, CANP3|114240|15q15.1-q21.1 Muscular dystrophy, limb-girdle, type 2B, 253601 (3) |DYSF, LGMD2B|603009|2p13.3-p13.1 Muscular dystrophy, limb-girdle, type 2C, 253700 (3) |SGCG, LGMD2C, DMDA1, SCG3|608896|13q12 Muscular dystrophy, limb-girdle, type 2D, 608099 (3) |SGCA, ADL, DAG2, LGMD2D, DMDA2|600119|17q12-q21.33 Muscular dystrophy, limb-girdle, type 2E, 604286 (3) |SGCB, LGMD2E|600900|4q12 Muscular dystrophy, limb-girdle, type 2F, 601287 (3) |SGCD, SGD, LGMD2F, CMD1L|601411|5q33 Muscular dystrophy, limb-girdle, type 2G, 601954 (3) |TCAP, LGMD2G, CMD1N|604488|17q12 Muscular dystrophy, limb-girdle, type 2H, 254110 (3) |TRIM32, HT2A, LGMD2H, BBS11|602290|9q31-q34.1 Muscular dystrophy, limb-girdle, type 2I, 607155 (3) |FKRP, MDC1C, LGMD2I|606596|19q13.3 Muscular dystrophy, limb-girdle, type 2J, 608807 (3) |TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC|188840|2q31 Muscular dystrophy, limb-girdle, type 2K, 609308 (3) |POMT1|607423|9q34.1 Muscular dystrophy, limb-girdle, type 2L (2) |LGMD2L|611307|11p13-p12 Muscular dystrophy, limb-girdle, type 2M, 611588 (3) |FKTN, FCMD, CMD1X, LGMD2M|607440|9q31 Muscular dystrophy, limb-girdle, type IC, 607801 (3) |CAV3, LGMD1C, LQT9|601253|3p25 Muscular dystrophy, rigid spine, 1, 602771 (3) |SEPN1, SELN, RSMD1|606210|1p36-p35 Myasthenia gravis with thymus hyperplasia (2) |MYAS1|607085|6p21.3 Myasthenia gravis, neonatal transient (2) |CHRNG, ACHRG|100730|2q33-q34 Myasthenia, familial infantile, 1, 605809 (3) |CMS1A1, FIM1|605809|17p13 Myasthenic syndrome (3) |SCN4A, HYPP, NAC1A|603967|17q23.1-q25.3 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931 (3) |CHRNB1, ACHRB, SCCMS, CMS2A, CMS1D|100710|17p12-p11 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931 (3) |CHRNE, SCCMS, CMS2A, FCCMS, CMS1E, CMS1D|100725|17p13-p12 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931 (3) |MUSK|601296|9q31.3-q32 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931 (3) |RAPSN, CMS1D, CMS1E|601592|11p11.2-p11.1 Myasthenic syndrome, congenital, associated with episodic apnea, 254210 (3) |CHAT, CMS1A2|118490|10q11.2 Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency, 608931 (3) |RAPSN, CMS1D, CMS1E|601592|11p11.2-p11.1 Myasthenic syndrome, fast-channel congenital, 608930 (3) |CHRNA1, ACHRD, CMS2A, SCCMS, FCCMS|100690|2q24-q32 Myasthenic syndrome, fast-channel congenital, 608930 (3) |CHRND, ACHRD, SCCMS, CMS2A, FCCMS|100720|2q33-q34 Myasthenic syndrome, fast-channel congenital, 608930 (3) |CHRNE, SCCMS, CMS2A, FCCMS, CMS1E, CMS1D|100725|17p13-p12 Myasthenic syndrome, slow-channel congenital, 601462 (3) |CHRNA1, ACHRD, CMS2A, SCCMS, FCCMS|100690|2q24-q32 Myasthenic syndrome, slow-channel congenital, 601462 (3) |CHRNB1, ACHRB, SCCMS, CMS2A, CMS1D|100710|17p12-p11 Myasthenic syndrome, slow-channel congenital, 601462 (3) |CHRND, ACHRD, SCCMS, CMS2A, FCCMS|100720|2q33-q34 Myasthenic syndrome, slow-channel congenital, 601462 (3) |CHRNE, SCCMS, CMS2A, FCCMS, CMS1E, CMS1D|100725|17p13-p12 Mycobacterial infection, atypical, familial disseminated, 209950 (3) |IFNGR1|107470|6q23-q24 Mycobacterial infection, atypical, familial disseminated, 209950 (3) |STAT1|600555|2q32.2-q32.3 Myelodysplasia syndrome-1 (3) |MDS1|600049|3q26 Myelodysplastic syndrome (3) |FACL6, ACS2|604443|5q31 Myelodysplastic syndrome, preleukemic (3) |IRF1, MAR|147575|5q31.1 Myelofibrosis, idiopathic, 254450 (3) |JAK2|147796|9p24 Myelogenous leukemia, acute (3) |FACL6, ACS2|604443|5q31 Myelogenous leukemia, acute (3) |IRF1, MAR|147575|5q31.1 Myeloid leukemia, acute, M4Eo subtype (3) |CBFB|121360|16q22 Myeloid malignancy, predisposition to (3) |CSF1R, FMS|164770|5q33.2-q33.3 Myelokathexis, isolated (3) |CXCR4, D2S201E, NPY3R, WHIM|162643|2q21 Myelomonocytic leukemia, chronic (3) |PDGFRB, PDGFR|173410|5q31-q32 Myeloperoxidase deficiency, 254600 (3) |MPO|606989|17q23.1 Myeloproliferative disorder (2) |FGFR1OP, FOP|605392|6q27 Myeloproliferative disorder with eosinophilia, 131440 (3) |PDGFRB, PDGFR|173410|5q31-q32 Myeloproliferative disorder with erythrocytosis (3) |JAK2|147796|9p24 Myoadenylate deaminase deficiency (3) |AMPD1|102770|1p21-p13 Myoclonic epilepsy with mental retardation and spasticity, 300432 (3) |ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43|300382|Xp22.13 Myoclonic epilepsy, juvenile, 1, 254770 (3) |EFHC1, FLJ10466, EJM1, JAE|608815|6p12-p11 Myoclonic epilepsy, juvenile, 4 (2) |EJM4|611364|5q12-q14 Myoclonic epilepsy, severe, of infancy, 607208 (3) |GABRG2, GEFSP3, CAE2, ECA2|137164|5q31.1-q33.1 Myokymia with neonatal epilepsy, 606437 (3) |KCNQ2, EBN1|602235|20q13.3 Myopathy due to CPT II deficiency, 255110 (3) |CPT2|600650|1p32 Myopathy due to phosphoglycerate mutase deficiency (3) |PGAM2, PGAMM|261670|7p13-p12.3 Myopathy, Laing distal, 160500 (3) |MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD|160760|14q12 Myopathy, X-linked, with excessive autophagy (2) |MEAX, XMEA|310440|Xq28 Myopathy, X-linked, with postural muscle atrophy, 300696 (3) |FHL1, SLIM1, XMPMA|300163|Xq27.2 Myopathy, actin, congenital, with cores (3) |ACTA1, ASMA, NEM3, NEM1, CFTD1|102610|1q42.1 Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3) |ACTA1, ASMA, NEM3, NEM1, CFTD1|102610|1q42.1 Myopathy, cardioskeletal, desmin-related, with cataract, 608810 (3) |CRYAB, CRYA2, CTPP2|123590|11q22.3-q23.1 Myopathy, centronuclear, 160150 (3) |DNM2, CMTDIB, CMTDI1|602378|19p13.2 Myopathy, centronuclear, 160150 (3) |MYF6|159991|12q21 Myopathy, centronuclear, autosomal recessive, 255200 (3) |BIN1, AMPHL|601248|2q14 Myopathy, congenital (3) |ITGA7|600536|12q13 Myopathy, congenital, with fiber-type disporportion 1, 255310 (3) |ACTA1, ASMA, NEM3, NEM1, CFTD1|102610|1q42.1 Myopathy, congenital, with fiber-type disproportion 2 (2) |CFTD2|300580|Xq13.1-q22.1 Myopathy, desmin-related, cardioskeletal, 601419 (3) |DES, CMD1I|125660|2q35 Myopathy, distal (2) |MPD2|606070|5q Myopathy, distal 3 (2) |MPD3|610099|8p22-q11 Myopathy, distal, with anterior tibial onset, 606768 (3) |DYSF, LGMD2B|603009|2p13.3-p13.1 Myopathy, distal, with decreased caveolin 3 (3) |CAV3, LGMD1C, LQT9|601253|3p25 Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3) |TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC|188840|2q31 Myopathy, hyaline body (2) |MHB|255160|3p22.2-p21.32 Myopathy, limb-girdle, with bone fragility (2) |LGMBF|609940|9p22-p21 Myopathy, myofibrillar, ZASP-related, 609452 (3) |LDB3, ZASP, CYPHER, KIAA01613|605906|10q22.2-q23.3 Myopathy, myosin storage, 608358 (3) |MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD|160760|14q12 Myopathy, nemaline, 3, 161800 (3) |ACTA1, ASMA, NEM3, NEM1, CFTD1|102610|1q42.1 Myopathy, proximal, with early respiratory muscle involvement, 603689 (3) |TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC|188840|2q31 Myopathy, spheroid body, 182920 (3) |TTID, MYOT|604103|5q31 Myopia 10 (2) |MYP10|609259|8p23 Myopia 11 (2) |MYP11|609994|4q22-q27 Myopia 12 (2) |MYP12|609995|2q37.1 Myopia 4 (2) |MYP4|608367|7q36 Myopia 5 (2) |MYP5|608474|17q21-q22 Myopia 7 (2) |MYP7|609256|11p13 Myopia 8 (2) |MYP8|609257|3q26 Myopia 9 (2) |MYP9|609258|4q12 Myopia-1 (2) |MYP1, BED|310460|Xq28 Myopia-2 (2) |MYP2|160700|18p11.31 Myopia-3 (2) |MYP3|603221|12q21-q23 Myopia-6 (2) |MYP6|608908|22q12 Myotilinopathy, 609200 (3) |TTID, MYOT|604103|5q31 Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3) |SCN4A, HYPP, NAC1A|603967|17q23.1-q25.3 Myotonia congenita, dominant, 160800 (3) |CLCN1|118425|7q35 Myotonia congenita, recessive, 255700 (3) |CLCN1|118425|7q35 Myotonia levior, recessive (3) |CLCN1|118425|7q35 Myotonic dystrophy, 160900 (3) |DMPK, DM, DMK|605377|19q13.2-q13.3 Myotonic dystrophy, type 2, 602668 (3) |ZNF9, CNBP1, DM2, PROMM|116955|3q13.3-q24 Myotubular myopathy, X-linked, 310400 (3) |MTM1, MTMX|300415|Xq28 Myxoid liposarcoma (3) |DDIT3, GADD153, CHOP10|126337|12q13.1-q13.2 Myxoma, intracardiac, 255960 (3) |PRKAR1A, TSE1, CNC1, CAR, PPNAD1|188830|17q23-q24 N syndrome, 310465 (1) (?) |POLA|312040|Xp22.3-p21.1 N-acetylglutamate synthase deficiency, 237310 (3) |NAGS|608300|17q21.31 Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3) |KRT14|148066|17q12-q21 Nail dysplasia, isolated congenital (2) |NDIC|605779|17p13 Nail-patella syndrome with open-angle glaucoma, 137750 (3) |LMX1B, NPS1|602575|9q34.1 Nail-patella syndrome, 161200 (3) |LMX1B, NPS1|602575|9q34.1 Nance-Horan syndrome, 302350 (3) |NHS|300457|Xp22.13 Nanophthalmos 3 (2) |NNO3|611897|2q11-q14 Nanophthalmos-1 (2) |NNO1|600165|11p Narcolepsy 3 (2) |NRCLP3|609039|21q11.2 Narcolepsy, 161400 (2) |NRCLP2|605841|4p13-q21 Narcolepsy, 161400 (3) |HCRT, OX|602358|17q21 Nasopharyngeal carcinoma, 161550 (3) |TP53, P53, LFS1|191170|17p13.1 Nasu-Hakola disease, 221770 (3) |TREM2|605086|6p21.2 Nasu-Hakola disease, 221770 (3) |TYROBP, PLOSL, DAP12|604142|19q13.1 Natural killer cell deficiency, familial isolated (2) |NKCD|609981|8p11.23-q11.21 Naxos disease, 601214 (3) |JUP, DP3, PDGB, ARVD12|173325|17q21 Nemaline myopathy 1, autosomal dominant, 161800 (3) |TPM3, NEM1|191030|1q22-q23 Nemaline myopathy 2, autosomal recessive, 256030 (3) |NEB, NEM2|161650|2q22 Nemaline myopathy 7, 610687 (3) |CFL2, NEM7|601443|14q12 Nemaline myopathy, 161800 (3) |TPM2, TMSB, AMCD1, DA1, DA2B|190990|9p13.2-p13.1 Nemaline myopathy, Amish type, 605355 (3) |TNNT1, ANM|191041|19q13.4 Neonatal alloimmune thrombocytopenia (1) |ITGA2, CD49B, BR|192974|5q23-q31 Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3) |AVPR2, DIR, DI1, ADHR|300538|Xq28 Nephrolithiasis, type I, 310468 (3) |CLCN5, CLCK2, NPHL2, DENTS, NPHL1|300008|Xp11.22 Nephronophthisis 2, infantile, 602088 (3) |INVS, INV, NPHP2, NPH2|243305|9q31 Nephronophthisis 4, 606966 (3) |NPHP4, SLSN4|607215|1p36 Nephronophthisis 7, 611498 (3) |GLIS2, NPHP7|608539|16p13.3 Nephronophthisis, adolescent, 604387 (3) |NPHP3, NPH3|608002|3q22 Nephronophthisis, juvenile, 256100 (3) |NPHP1, NPH1, SLSN1, JBTS4|607100|2q13 Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3) |CD151, PETA3, SFA1, MER2|602243|11p15.5 Nephropathy, IgA type (2) |IGAN1|161950|6q22-q23 Nephropathy, progressive, with deafness (2) |NEDE|609469|11q24 Nephropathy-hypertension (2) |RFH1, AORF|161900|1q21 Nephrosis, congenital, with or without ocular abnormalities, 609049 (3) |LAMB2, LAMS|150325|3p21 Nephrosis-1, congenital, Finnish type, 256300 (3) |NPHS1, NPHN|602716|19q13.1 Nephrotic syndrome, steroid-resistant, autosomal recessive, 600995 (3) |PDCN, NPHS2, SRN1|604766|1q25-q31 Nephrotic syndrome, type 3, 610725 (3) |PLCE1, KIAA1516, NPHS3|608414|10q23 Netherton syndrome, 256500 (3) |SPINK5, LEKTI|605010|5q32 Neural tube defects, 182940 (3) |VANGL1, STBM2|610132|1p13 Neuroblastoma (1) (?) |TP73|601990|1p36 Neuroblastoma, 256700 (3) |NME1, NM23|156490|17q21.3 Neuroblastoma, 256700 (3) |PMX2B, NBPHOX, PHOX2B|603851|4p12 Neurodegeneration with brain iron accumulation, 610217 (3) |PLA2G6, IPLA2, INAD1|603604|22q13.1 Neurodegeneration, pantothenate kinase-associated, 234200 (3) |PANK2, NBIA1, PKAN, HARP|606157|20p13-p12.3 Neuroepithelioma (2) |EWSR1, EWS|133450|22q12 Neurofibromatosis, familial spinal, 162210 (3) |NF1, VRNF, WSS, NFNS|162200|17q11.2 Neurofibromatosis, type 1 (3) |NF1, VRNF, WSS, NFNS|162200|17q11.2 Neurofibromatosis, type 1-like syndrome, 611431 (3) |SPRED1, NFLS|609291|15q13.2 Neurofibromatosis, type 2, 101000 (3) |NF2|607379|22q12.2 Neurofibromatosis-Noonan syndrome, 601321 (3) |NF1, VRNF, WSS, NFNS|162200|17q11.2 Neurofibrosarcoma (3) |MXI1|600020|10q25 Neuronopathy, distal hereditary motor, type VI, 604320 (3) |IGHMBP2, SMUBP2, CATF1, SMARD1, HMN6|600502|11q13.2-q13.4 Neuropathy, congenital hypomyelinating, 1, 605253 (3) |EGR2, KROX20|129010|10q21.1-q22.1 Neuropathy, congenital hypomyelinating, 605253 (3) |MPZ, CMT1B, CMTDI3, CHM, DSS|159440|1q22 Neuropathy, distal hereditary motor, Jerash type (2) |HMNJ, MNDJ|605726|9p21.1-p12 Neuropathy, distal hereditary motor, type IIA, 158590 (3) |HSPB8, H11, E2IG1, DHMN2, CMT2L, HMN2A|608014|12q24 Neuropathy, distal hereditary motor, type IIB, 608634 (3) |HSPB1, HSP27, CMT2F, HMN2B|602195|7q11.23 Neuropathy, distal hereditary motor, type V, 600794 (3) |BSCL2, SPG17, HMN5|606158|11q13 Neuropathy, distal hereditary motor, type V, 600794 (3) |GARS, SMAD1, CMT2D, HMN5|600287|7p15 Neuropathy, distal hereditary motor, type VIIB, 607641 (3) |DCTN1, HMN7B|601143|2p13 Neuropathy, hereditary motor and sensory, Okinawa type (2) |HMSNO, HMSNP|604484|3q13.1 Neuropathy, hereditary sensory and autonomic, type 1, 162400 (3) |SPTLC1, LBC1, SPT1, HSN1, HSAN|605712|9q22.1-q22.3 Neuropathy, hereditary sensory and autonomic, type V, 608654 (3) |NGFB, HSAN5|162030|1p13.1 Neuropathy, hereditary sensory, type II, 201300 (3) |HSN2|608620|12p13.33 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3) |CCT5, KIAA0098, CCTE|610150|5p15.2 Neuropathy, motor and sensory, Russe type (2) |NMSR, HMSNR|605285|10q23.2 Neuropathy, paraneoplastic sensory (1) |ELAVL4, HUD, PNEM|168360|1p34 Neuropathy, recurrent, with pressure palsies, 162500 (3) |PMP22, CMT1A, CMT1E, DSS|601097|17p11.2 Neutral lipid storage disease with myopathy, 610717 (3) |PNPLA2, TTS2, ATGL|609059|11p15.5 Neutropenia, alloimmune neonatal (3) |FCGR3A, CD16, IGFR3|146740|1q23 Neutropenia, congenital, 202700 (3) |ELA2|130130|19p13.3 Neutropenia, neonatal alloimmune (1) |LAG5|151450|Chr.4 Neutropenia, nonimmune chronic idiopathic, of adults, 607847 (3) |GFI1, ZNF163|600871|1p22 Neutropenia, severe congenital, 202700 (3) |GFI1, ZNF163|600871|1p22 Neutropenia, severe congenital, X-linked, 300299 (3) |WAS, IMD2, THC|300392|Xp11.23-p11.22 Neutropenia, severe congenital, autosomal recessive 3, 610738 (3) |HAX1, SCN3|605998|1q21.3 Neutrophil immunodeficiency syndrome, 608203 (3) |RAC2|602049|22q12.3-q13.2 Nevo syndrome, 601451 (3) |PLOD, PLOD1|153454|1p36.3-p36.2 Nevus, epidermal, epidermolytic hyperkeratotic type, 600648 (3) |KRT10|148080|17q21-q22 Nevus, keratinocytic, nonepidermolytic, 162900 (3) |FGFR3, ACH|134934|4p16.3 Newfoundland rod-cone dystrophy, 607476 (3) |RLBP1|180090|15q26 Niemann-Pick disease, type A, 257200 (3) |SMPD1, NPD|607608|11p15.4-p15.1 Niemann-Pick disease, type B, 607616 (3) |SMPD1, NPD|607608|11p15.4-p15.1 Niemann-Pick disease, type C1, 257220 (3) |NPC1, NPC|607623|18q11-q12 Niemann-Pick disease, type D, 257220 (3) |NPC1, NPC|607623|18q11-q12 Niemann-pick disease, type C2, 607625 (3) |NPC2, HE1|601015|14q24.3 Night blindness, congenital stationary (3) |GNAT1|139330|3p21 Night blindness, congenital stationary, X-linked, type 2A, 300071 (3) |CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2|300110|Xp11.23 Night blindness, congenital stationary, type 1, 310500 (3) |CSNB1, NYX|300278|Xp11.4 Night blindness, congenital stationary, type 1B, 257270 (3) |GRM6, MGLUR6, CSNB1B|604096|5q35 Night blindness, congenital stationary, type 2B, 610427 (3) |CABP4, CSNB2B|608965|11q13.1 Night blindness, congenital stationary, type 3, 163500 (3) |PDE6B, PDEB, CSNB3|180072|4p16.3 Night blindness, congenital stationery, rhodopsin-related (3) |RHO, RP4, OPN2|180380|3q21-q24 Nijmegen breakage syndrome, 251260 (3) |NBS1, NBS|602667|8q21 Non-Hodgkin lymphoma, somatic, 605027 (3) |CASP10, MCH4, ALPS2|601762|2q33-q34 Nonaka myopathy, 605820 (3) |GNE, GLCNE, IBM2, DMRV, NM|603824|9p12-p11 Noncompaction of left ventricular myocardium, familial isolated, 2 (2) |LVNC2|609470|11p15 Noncompaction of left ventricular myocardium, isolated, 300183 (3) |TAZ, EFE2, BTHS, CMD3A, LVNCX|300394|Xq28 Nonsmall cell lung cancer (3) |IRF1, MAR|147575|5q31.1 Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3) |EGFR|131550|7p12.3-p12.1 Nonsmall cell lung cancer, somatic (3) |BRAF|164757|7q34 Nonsmall cell lung cancer, somatic, 211980 (3) |PIK3CA|171834|3q26.3 Noonan syndrome 1, 163950 (3) |PTPN11, PTP2C, SHP2, NS1|176876|12q24.1 Noonan syndrome 3, 609942 (3) |KRAS2, RASK2, NS3|190070|12p12.1 Noonan syndrome 4, 610733 (3) |SOS1, GINGF, GF1, HGF, NS4|182530|2p22-p21 Noonan syndrome 5, 611553 (3) |RAF1, CRAF, NS5|164760|3p25 Norrie disease (3) |NDP, ND|310600|Xp11.4 Norum disease, 245900 (3) |LCAT|606967|16q22.1 Nucleoside phosphorylase deficiency, immunodeficiency due to (3) |NP|164050|14q13.1 Nystagmus 1, congenital (2) |NYS1|310700|Xq26-q27 Nystagmus 1, congenital, X-linked, 310700 (3) |FRMD7|300628|Xq26.2 Nystagmus 4, congenital (2) |NYS4|193003|13q31-q22 Nystagmus 5, infantile periodic alternating (2) |NYS5|300589|Chr.X Nystagmus-2, autosomal dominant (2) |NYS2, NYSA|164100|6p12 OI type II, 166210 (3) |COL1A1|120150|17q21.31-q22 OI type III, 259420 (3) |COL1A1|120150|17q21.31-q22 OI type IV, 166220 (3) |COL1A1|120150|17q21.31-q22 OI/EDS combined syndrome (3) |COL1A1|120150|17q21.31-q22 Obesity, adrenal insufficiency, and red hair (3) |POMC|176830|2p23.3 Obesity, autosomal dominant, 601665 (3) |MC4R|155541|18q22 Obesity, hyperphagia, and developmental delay (3) |AKR1C2, DDH2, DD2, HAKRD|600450|10p15-p14 Obesity, hyperphagia, and developmental delay (3) |NTRK2, TRKB|600456|9q22.1 Obesity, mild, early-onset, 601665 (3) |NR0B2, SHP|604630|1p36.1 Obesity, morbid, with hypogonadism (3) |LEP, OB|164160|7q31.3 Obesity, morbid, with hypogonadism (3) |LEPR, OBR|601007|1p31 Obesity, severe, 601665 (3) |PPARG, PPARG1, PPARG2|601487|3p25 Obesity, severe, 601665 (3) |SIM1|603128|6q16.3-q21 Obesity, severe, due to leptin deficiency (3) |LEP, OB|164160|7q31.3 Obestiy with impaired prohormone processing, 600955 (3) |PCSK1, NEC1, PC1, PC3|162150|5q15-q21 Occipital horn syndrome, 304150 (3) |ATP7A, MNK, MK, OHS|300011|Xq12-q13 Ocular albinism with sensorineural deafness (2) |OASD|300650|Xp22.3 Ocular albinism, Nettleship-Falls type (3) |GPR143, OA1|300500|Xp22.3 Ocular albinism, autosomal recessive (2) (?) |OA3, OAR|203310|6q13-q15 Ocular coloboma, 120200 (2) |GDF6, CDMP2|601147|8q22.1 Oculocutaneous albinism, type IV, 606574 (3) |SLC45A2, MATP, AIM1, SHEP5|606202|5p13.3 Oculodentodigital dysplasia, 164200 (3) |GJA1, CX43, ODDD, SDTY3, ODOD|121014|6q21-q23.2 Oculomotor apraxia, congential, Cogan-type (2) |COMA|257550|2q13 Oculopharyngeal muscular dystrophy, 164300 (3) |PABPN1, PABP2, PAB2|602279|14q11.2-q13 Odontohypophosphatasia, 146300 (3) |ALPL, HOPS, TNSALP|171760|1p36.1-p34 Odontoonychodermal dysplasia, 257980 (3) |WNT10A|606268|2q35 Oguchi disease-1, 258100 (3) |SAG|181031|2q37.1 Oguchi disease-2, 258100 (3) |GRK1, RHOK, RK|180381|13q34 Oligodendroglioma, 137800 (3) |PTEN, MMAC1|601728|10q23.31 Oligodontia, 604625 (3) |PAX9|167416|14q12-q13 Oligodontia-colorectal cancer syndrome, 608615 (3) |AXIN2|604025|17q24 Omenn syndrome, 603554 (3) |DCLRE1C, ARTEMIS, SCIDA|605988|10p Omenn syndrome, 603554 (3) |RAG1|179615|11p13 Omenn syndrome, 603554 (3) |RAG2|179616|11p13 Opitz G syndrome, type I, 300000 (3) |MID1, OGS1, BBBG1, FXY, OSX|300552|Xp22 Opitz G syndrome, type II (2) |OGS2, BBBG2, GBBB2|145410|22q11.2 Opremazole poor metabolizer (3) |CYP2C, CYP2C19|124020|10q24.1-q24.3 Optic atrophy 1, 165500 (3) |OPA1, NTG, NPG|605290|3q28-q29 Optic atrophy 5 (2) |OPA5|610708|22q12.1-q13.1 Optic atrophy 6 (2) |OPA6|258500|8q21-q22 Optic atrophy and cataract, 165300 (3) |OPA3, MGA3|606580|19q13.2-q13.3 Optic atrophy and deafness, 125250 (3) |OPA1, NTG, NPG|605290|3q28-q29 Optic atrophy, X-linked (2) |OPA2|311050|Xp11.4-p11.21 Optic atrophy-4 (2) |OPA4|605293|18q12.2-q12.3 Optic nerve coloboma with renal disease, 120330 (3) |PAX2|167409|10q24.3-q25.1 Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 (3) |SOX2, MCOPS3|184429|3q26.3-q27 Optic nerve hypoplasia/aplasia, 165550 (3) |PAX6, AN2, MGDA|607108|11p13 Oral-facial-digital syndrome 1, 311200 (3) |OFD1, CXorf5, SGBS2|300170|Xp22.3-p22.2 Ornithine transcarbamylase deficiency, 311250 (3) |OTC|300461|Xp21.1 Orofacial cleft 10 (3) |SUMO1, UBL1, SMT3, OFC10|601912|2q32.2-q33 Orofacial cleft 4 (2) |OFC4|608371|4q21-q31 Orofacial cleft 6, 608864 (3) |IRF6, VWS, LPS, PIT, PPS, OFC6|607199|1q32-q41 Orofacial cleft 7, 600644 (3) |HVEC, PVRL1, PVRR1, PRR1, ED4, OFC7|600644|11q23-q24 Orofacial cleft 8, 129400 (3) |TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS, OFC8|603273|3q27 Orofacial cleft-1 (2) |OFC1, CL|119530|6p24.3 Orofacial cleft-2 (2) |OFC2|602966|2p13 Orofacial cleft-3 (2) |OFC3|600757|19q13 Orolaryngeal cancer, multiple, (3) |CDKN2A, MTS1, P16, MLM, CMM2|600160|9p21 Oroticaciduria (3) |UMPS, OPRT|258900|3q13 Orthostatic hypotensive disorder of Streeten (2) |OHDS|143850|18q Orthostatic intolerance, 604715 (3) |SLC6A2, NAT1, NET1|163970|16q12.2 Osler-Rendu-Weber syndrome 3 (2) |ORW3, HHT3|601101|5q31.3-q32 Osseous dysplasia, digital, with facial pigmentary defects and multiple frenula (2) |ODPF|300244|Xq27.3-q28 Osseous heteroplasia, progressive, 166350 (3) |GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO|139320|20q13.2 Ossification of posterior longitudinal ligament of spine, 602475 (3) |ENPP1, PDNP1, NPPS, M6S1, PCA1|173335|6q22-q23 Osteoarthritis of distal interphalangeal joints (2) (?) |OADIP, DIPOA|140600|2q12-q13 Osteoarthrosis, 165720 (3) |COL2A1|120140|12q13.11-q13.2 Osteogenesis imperfecta, 3 clinical forms, 166200, 166210, 259420 (3) |COL1A2|120160|7q22.1 Osteogenesis imperfecta, type I, 166200 (3) |COL1A1|120150|17q21.31-q22 Osteogenesis imperfecta, type IIB, 610854 (3) |CRTAP, CASP|605497|3p22 Osteogenesis imperfecta, type VII (2) |OI7|610682|3p24.1-p22 Osteogenesis imperfecta, type VII, 610682 (3) |CRTAP, CASP|605497|3p22 Osteogenesis imperfecta, type VIII, 610915 (3) |LEPRE1, P3H1, GROS1|610339|1p34 Osteolysis, familial expansile, 174810 (3) |TNFRSF11A, RANK, ODFR, OFE|603499|18q22.1 Osteolysis, idiopathic, Saudi type, 605156 (3) |MMP2, CLG4A, MONA|120360|16q13 Osteomalacia, tumor-induced (1) |FGF23, ADHR, HPDR2, PHPTC|605380|12p13.3 Osteopathia striata with cranial sclerosis (2) |OSCS|300373|Chr.X Osteopenia/osteoporosis, 166710 (2) |IL6, IFNB2, BSF2|147620|7p21 Osteopetrosis, AD type I, 607634 (3) |LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4|603506|11q13.4 Osteopetrosis, autosomal dominant 2, 166600 (3) |CLCN7, CLC7, OPTA2, OPTB4|602727|16p13 Osteopetrosis, autosomal recessive 2, 259710 (3) |TNFSF11, OPGL, TRANCE, OPTB2|602642|13q14 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3) |CA2|611492|8q22 Osteopetrosis, autosomal recessive 4, 611490 (3) |CLCN7, CLC7, OPTA2, OPTB4|602727|16p13 Osteopetrosis, autosomal recessive 5, 259720 (3) |OSTM1, GL, OPTB5|607649|6q21 Osteopetrosis, autosomal recessive 6, 611497 (3) |PLEKHM1, AP162, KIAA0356, OPTB6|611466|17q21.3 Osteopetrosis, recessive 1, 259700 (3) |TCIRG1, TIRC7, OC116, OPTB1|604592|11q13.4-q13.5 Osteopoikilosis, 166700 (3) |LEMD3, MAN1|607844|12q14 Osteoporosis (3) |CALCA, CALC1|114130|11p15.2-p15.1 Osteoporosis, hypophosphatemic, (3) |SLC34A1, SLC17A2, NPT2|182309|5q35 Osteoporosis, involutional, 166710 (1) (?) |VDR|601769|12q12-q14 Osteoporosis-pseudoglioma syndrome, 259770 (3) |LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4|603506|11q13.4 Osteosarcoma (3) |TP53, P53, LFS1|191170|17p13.1 Osteosarcoma, 259500 (2) |LOH18CR1, OSTS|603045|18q21-q22 Osteosarcoma, 259500 (2) |RB1|180200|13q14.1-q14.2 Osteosarcoma, somatic, 259500 (3) |CHEK2, RAD53, CHK2, CDS1, LFS2|604373|22q12.1 Osteosclerosis, 144750 (3) |LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4|603506|11q13.4 Otahara syndrome, 308350 (3) |ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43|300382|Xp22.13 Otofaciocervical syndrome, 166780 (3) |EYA1, BOR|601653|8q13.3 Otopalatodigital syndrome, type I, 311300 (3) |FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS|300017|Xq28 Otopalatodigital syndrome, type II, 304120 (3) |FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS|300017|Xq28 Otosclerosis 1 (2) |OTSC1, OTS|166800|15q26.1-qter Otosclerosis 3 (2) |OTSC3|608244|6p22.3-p21.3 Otosclerosis 5 (2) |OTSC5|608787|3q22-q24 Otosclerosis 7 (2) |OTSC7|611572|6q13-q16.1 Otosclerosis-2 (2) |OTSC2|605727|7q34-q36 Otospondylomegaepiphyseal dysplasia, 215150 (3) |COL11A2, STL3, DFNA13|120290|6p21.3 Ovalocytosis (3) |SLC4A1, AE1, EPB3|109270|17q21-q22 Ovarian cancer (1) |ARHI|605193|1p31 Ovarian cancer (3) |BRCA1, PSCP|113705|17q21 Ovarian cancer, endometrial type. 608089 (3) |MSH6, GTBP, HNPCC5|600678|2p16 Ovarian cancer, serous (2) |ST8, OVCS|167000|6q26-q27 Ovarian cancer, somatic, (3) |ERBB2, NGL, NEU, HER2|164870|17q21.1 Ovarian cancer, somatic, 604370 (3) |AKT1|164730|14q32.3 Ovarian cancer, somatic, 604370 (3) |PIK3CA|171834|3q26.3 Ovarian carcinoma (1) |SEPT9, MSF, MSF1, NAPB|604061|17q25 Ovarian carcinoma (2) |OVC|164759|9p24 Ovarian carcinoma (3) |CDH1, UVO, LCAM, ECAD|192090|16q22.1 Ovarian carcinoma (3) |RRAS2, TC21|600098|11pter-p15.5 Ovarian carcinoma, endometrioid type (3) |CTNNB1|116806|3p22-p21.3 Ovarian dysgenesis 1, 233300 (3) |FSHR, ODG1|136435|2p21-p16 Ovarian dysgenesis 2, 300510 (3) |BMP15, GDF9B, ODG2, POF4|300247|Xp11.2 Ovarian failure, premature (2) |POF1, POF|311360|Xq26-q28 Ovarian hyperstimulation syndrome, 608115 (3) |FSHR, ODG1|136435|2p21-p16 Ovarian response to FSH stimulation, 276400 (3) |FSHR, ODG1|136435|2p21-p16 Ovarian sex cord tumors (3) |FSHR, ODG1|136435|2p21-p16 Ovarioleukodystrophy, 603896 (3) |EIF2B2|606454|14q24 Ovarioleukodystrophy, 603896 (3) |EIF2B4|606687|2p23.3 Ovarioleukodystrophy, 603896 (3) |EIF2B5, LVWM, CACH, CLE|603945|3q27 Overgrowth syndrome (3) |RNF135|611358|17q11 PCWH, 609136 (3) |SOX10, WS4, WS2E|602229|22q13 PEPCK deficiency, mitochondrial (1) |PCK2, PEPCK2|261650|14q11.2-q12 POR deficiency, 201750 (3) |POR|124015|7q11.2 Pachyonychia congenita, Jackson-Lawler type, 167210 (3) |KRT17, PC2, PCHC1|148069|17q12-q21 Pachyonychia congenita, Jackson-Lawler type, 167210 (3) |KRT6B, PC2|148042|12q13 Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200 (3) |KRT16|148067|17q12-q21 Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200 (3) |KRT6A|148041|12q13 Paget disease of bone (2) (?) |PDB|167250|6p21.3 Paget disease of bone, 602080 (2) |PDB4|606263|5q31 Paget disease of bone, 602080 (3) |SQSTM1, P62, PDB3|601530|5q35 Paget disease of bone, 602080 (3) |TNFRSF11A, RANK, ODFR, OFE|603499|18q22.1 Paget disease, juvenile, 239000 (3) |TNFRSF11B, OPG, OCIF|602643|8q24 Pallister-Hall syndrome, 146510 (3) |GLI3, PAPA, PAPB, ACLS|165240|7p13 Palmoplantar keratoderma, Bothnia type (2) |PPKB|600231|12q11-q13 Palmoplantar keratoderma, nonepidermolytic, 600962 (3) |KRT16|148067|17q12-q21 Palmoplantar verrucous nevus, unilateral, 144200 (3) |KRT16|148067|17q12-q21 Panbronchiolitis, diffuse (2) |PBLT|604809|6p21.3 Pancreatic agenesis, 260370 (3) |IPF1|600733|13q12.1 Pancreatic cancer (3) |MADH4, DPC4, SMAD4, JIP|600993|18q21.1 Pancreatic cancer, 260350 (3) |ARMET, ARP|601916|3p21.1 Pancreatic cancer, 260350 (3) |BRCA2, FANCD1|600185|13q12.3 Pancreatic cancer, 260350 (3) |TP53, P53, LFS1|191170|17p13.1 Pancreatic cancer, somatic (3) |ACVR1B, ACVRLK4, ALK4|601300|12q13 Pancreatic cancer, sporadic (3) |STK11, PJS, LKB1|602216|19p13.3 Pancreatic cancer/melanoma syndrome, 606719 (3) |CDKN2A, MTS1, P16, MLM, CMM2|600160|9p21 Pancreatic carcinoma, somatic (3) |RBBP8, RIM|604124|18q11.2 Pancreatic carcinoma, somatic, 260350 (3) |KRAS2, RASK2, NS3|190070|12p12.1 Pancreatic endocrine tumors (1) (?) |ST11, PETS1|602011|3p25 Pancreatic lipase deficiency (1) |PNLIP|246600|10q26.1 Pancreatitis, hereditary, 167800 (3) |PRSS1, TRY1|276000|7q35 Pancreatitis, hereditary, 167800 (3) |SPINK1, PSTI, PCTT, TATI|167790|5q32 Panhypopituitarism, X-linked (2) |PHP, GHDX, PHPX|312000|Xq27.2-q27.3 Panic disorder 2 (2) |PAND2|607853|9q31 Panic disorder 3 (2) |PAND3|609985|4q31-q34 Panic disorder syndrome 1 (2) |PAND1|167870|13q22-q32 Papillary serous carcinoma of the peritoneum (3) |BRCA1, PSCP|113705|17q21 Papillon-Lefevre syndrome, 245000 (3) |CTSC, CPPI, PALS, PLS, HMS, JPD|602365|11q14.1-q14.3 Paraganglioma and gastric stromal sarcoma, 606864 (3) |SDHB, SDH1, SDHIP, PGL4|185470|1p36.1-p35 Paraganglioma and gastric stromal sarcoma, 606864 (3) |SDHC, PGL3|602413|1q21 Paraganglioma and gastric stromal sarcoma, 606864 (3) |SDHD, PGL1|602690|11q23 Paraganglioma, familial chromaffin, 4, 115310 (3) |SDHB, SDH1, SDHIP, PGL4|185470|1p36.1-p35 Paragangliomas, familial nonchromaffin, 1, with or without deafness, 168000 (3) |SDHD, PGL1|602690|11q23 Paragangliomas, familial nonchromaffin, 2 (2) |PGL2|601650|11q13.1 Paragangliomas, familial nonchromaffin, 3, 605373 (3) |SDHC, PGL3|602413|1q21 Paramyotonia congenita, 168300 (3) |SCN4A, HYPP, NAC1A|603967|17q23.1-q25.3 Parathyroid adenoma with cystic changes, 145001 (3) |HRPT2, C1orf28|607393|1q25-q31 Parathyroid adenoma, somatic (3) |MEN1|131100|11q13 Parathyroid adenomatosis 1 (2) |CCND1, PRAD1, BCL1|168461|11q13 Parathyroid carcinoma, 608266 (3) |HRPT2, C1orf28|607393|1q25-q31 Parietal foramina 1, 168500 (3) |MSX2, CRS2, HOX8|123101|5q34-q35 Parietal foramina 2, 609597 (3) |ALX4, PFM2, FPP|605420|11p11.2 Parietal foramina with cleidocranial dysplasia, 168550 (3) |MSX2, CRS2, HOX8|123101|5q34-q35 Parkes Weber syndrome, 608355 (3) |RASA1, GAP, CMAVM, PKWS|139150|5q13.3 Parkinson disease 11 (2) |PARK11|607688|2q36-q37 Parkinson disease 12, 168600 (2) |PARK12|300557|Xq21-q25 Parkinson disease 13, 610297 (3) |HTRA2, OMI, PARK13, PRSS25|606441|2p12 Parkinson disease 4, autosomal dominant Lewy body, 605543 (3) |SNCA, NACP, PARK1, PARK4|163890|4q21 Parkinson disease 6, early onset, 605909 (3) |PINK1, PARK6|608309|1p36 Parkinson disease 7, autosomal recessive early-onset, 606324 (3) |DJ1, PARK7|602533|1p36 Parkinson disease, 168600 (2) |PARK10|606852|1p Parkinson disease, 168600 (3) |MAPT, MTBT1, DDPAC, MSTD|157140|17q21.1 Parkinson disease, 168600 (3) |SNCAIP|603779|5q23.1-q23.3 Parkinson disease, 168600 (3) |TBP, SCA17|600075|6q27 Parkinson disease, familial, 168600 (2) |PARK3|602404|2p13 Parkinson disease, familial, 168600 (3) |UCHL1, PARK5|191342|4p14 Parkinson disease, familial, 168601 (3) |SNCA, NACP, PARK1, PARK4|163890|4q21 Parkinson disease, juvenile, type 2, 600116 (3) |PRKN, PARK2, PDJ, LPRS2|602544|6q25.2-q27 Parkinson disease, resistance to, 168600 (3) |DBH|609312|9q34 Parkinson disease-8, 607060 (3) |LRRK2, PARK8|609007|12q12 Parkinsonism-dementia with pallidopontonigral degeneration (2) |PPND|168610|17q21 Paroxysmal extreme pain disorder, 167400 (3) |SCN9A, NENA, PN1|603415|2q24 Paroxysmal kinesigenic choreoathetosis (2) |PKC, DYT10|128200|16p11.2-q12.1 Paroxysmal nocturnal hemoglobinuria (3) |PIGA|311770|Xp22.1 Paroxysmal nonkinesigenic dyskinesia, 118800 (3) |MR1, TAHCCP2, KIPP1184, BRP17, PNKD, FPD1, PDC, DYT8|609023|2q35 Partington syndrome, 309510 (3) |ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43|300382|Xp22.13 Patella aplasia or hypoplasia (2) |PTLAH, FPAH|168860|17q21-q22 Peeling skin syndrome, acral type, 609796 (3) |TGM6, TGX|603805|15q15.2 Pelger-Huet anomaly, 169400 (3) |LBR, PHA|600024|1q42.1 Pelizaeus-Merzbacher disease, 312080 (3) |PLP1, PMD|300401|Xq22 Pelizaeus-Merzbacher-like disease, autosomal recessive, 608804 (3) |GJC2, GJA12, CX47, PMLDAR|608803|1q41-q42 Pelviureteric junction obstruction (2) |PUJO|143400|6p Pendred syndrome, 274600 (3) |SLC26A4, PDS, DFNB4|605646|7q31 Periodic fever, familial, 142680 (3) |TNFRSF1A, TNFR1, TNFAR, FPF|191190|12p13.2 Periodontitis, aggressive, 2 (2) |PDON2|608526|1q25 Periodontitis, juvenile, 170650 (3) |CTSC, CPPI, PALS, PLS, HMS, JPD|602365|11q14.1-q14.3 Peripheral arterial occlusive disease 1 (2) |PAOD1|606787|1p31 Periventricular heterotopia with microcephaly, 608097 (3) |ARFGEF2, BIG2|605371|20q13.13 Peroxisomal acyl-CoA oxidase deficiency, 264470 (3) |ACOX1, ACOX, SCOX|609751|17q25 Peroxisomal biogenesis disorder, complementation group 4 (3) |PEX6, PXAAA1, PAF2|601498|6p21.1 Peroxisomal biogenesis disorder, complementation group 6 (3) |PEX6, PXAAA1, PAF2|601498|6p21.1 Peroxisome biogenesis factor 12 (3) |PEX12|601758|Chr.17 Persistent Mullerian duct syndrome, type I, 261550 (3) |AMH, MIF|600957|19p13.3-p13.2 Persistent Mullerian duct syndrome, type II, 261550 (3) |AMHR2, AMHR|600956|12q13 Persistent truncus arteriosus, 217095 (3) |NKX2-6, CSX2|611770|8p21 Peters anomaly, 603807 (3) |PAX6, AN2, MGDA|607108|11p13 Peters anomaly, 604229 (3) |CYP1B1, GLC3A|601771|2p22-p21 Peutz-Jeghers syndrome, 175200 (3) |STK11, PJS, LKB1|602216|19p13.3 Pfeiffer syndrome, 101600 (3) |FGFR1, FLT2, KAL2|136350|8p11.2-p11.1 Pfeiffer syndrome, 101600 (3) |FGFR2, BEK, CFD1, JWS|176943|10q26 Phenylketonuria (3) |PAH, PKU1|261600|12q24.1 Phenylketonuria due to PTS deficiency (3) |PTS|261640|11q22.3-q23.3 Phenylketonuria due to dihydropteridine reductase deficiency (3) |QDPR, DHPR|261630|4p15.31 Phenylketonuria, atypical, due to GCH1 deficiency, 233910 (1) |GCH1, DYT5|600225|14q22.1-q22.2 Pheochromocytoma, 171300 (3) |RET, MEN2A|164761|10q11.2 Pheochromocytoma, 171300 (3) |SDHB, SDH1, SDHIP, PGL4|185470|1p36.1-p35 Pheochromocytoma, 171300 (3) |SDHD, PGL1|602690|11q23 Pheochromocytoma, 171300 (3) |VHL|608537|3p26-p25 Phobia, specific (2) |PHOBS|608251|Chr.14 Phosphoglycerate dehydrogenase deficiency, 601815 (3) |PHGDH|606879|1q12 Phosphoglycerate kinase 1 deficiency, 300653 (3) |PGK1, PGKA|311800|Xq13 Phosphoribosylpyrophosphate synthetase superactivity, 300661 (3) |PRPS1, CMTX5|311850|Xq22-q24 Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3) |PHKB|172490|16q12-q13 Phosphoserine aminotransferase deficiency, 610992 (3) |PSAT1, PSAT, EPIP|610936|9q21.31 Phosphoserine phosphatase deficiency (3) |PSP|172480|7p15.2-p15.1 Photoparoxysmal response 1 (2) |PPR1|609569|6p21.1 Photoparoxysmal response 2 (2) |PPR2|609572|13q31.3 Photoparoxysmal response 3 (2) |PPR3|609573|7q32 Pick disease, 172700 (3) |MAPT, MTBT1, DDPAC, MSTD|157140|17q21.1 Pick disease, 172700 (3) |PSEN1, AD3|104311|14q24.3 Piebaldism (3) |KIT, PBT|164920|4q12 Piebaldism, 172800 (3) |SNAI2, SLUG, WS2D|602150|8q11 Pierson syndrome, 609049 (3) |LAMB2, LAMS|150325|3p21 Pigment disorder, reticulate (2) |PDR|301220|Xp22-p21 Pigment dispersion syndrome (2) |GPDS1, PDS1|600510|7q35-q36 Pigmented adrenocortical disease, primary, 1, 610489 (3) |PRKAR1A, TSE1, CNC1, CAR, PPNAD1|188830|17q23-q24 Pigmented nodular adrenocortical disease, primary, 2, 610475 (3) |PDE11A, PDE11A1, PDE11A2, PDE11A3, PPNAD2|604961|2q31.2 Pigmented nodular adrenocortical disease, primary, 3 (3) |PDE8B, PPNAD3|603390|5q13 Pigmented paravenous chorioretinal atrophy, 172870 (3) |CRB1, RP12, LCA8|604210|1q31-q32.1 Pilomatricoma, 132600 (3) |CTNNB1|116806|3p22-p21.3 Pinealoma with bilateral retinoblastoma (2) |RB1|180200|13q14.1-q14.2 Pitt-Hopkins syndrome, 610954 (3) |TCF4, SEF2, ITF2, PTHS|602272|18q21.1 Pituitary ACTH secreting adenoma (3) |GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO|139320|20q13.2 Pituitary ACTH-secreting adenoma (3) |GNAI2, GNAI2B, GIP|139360|3p21 Pituitary adenoma, ACTH-secreting, 219090 (3) |AIP, XAP2, ARA9|605555|11q13.3 Pituitary adenoma, growth hormone-secreting, 102200 (3) |AIP, XAP2, ARA9|605555|11q13.3 Pituitary adenoma, nonfunctioning (3) |THRA, ERBA1, THRA1|190120|17q11.2 Pituitary adenoma, prolactin-secreting, 600634 (3) |AIP, XAP2, ARA9|605555|11q13.3 Pituitary anomalies with holoprosencephaly-like features (3) |GLI2, HPE9|165230|2q14 Pituitary hormone deficiency, combined (3) |POU1F1, PIT1|173110|3p11 Pituitary hormone deficiency, combined (3) |PROP1|601538|5q Pituitary hormone deficiency, combined, HESX1-related, 182230 (3) |HESX1, RPX|601802|3p21.2-p21.1 Pituitary hormone deficiency, combined, with rigid cervical spine, 262600 (3) |LHX3|600577|9q34.3 Pituitary tumor, invasive (3) |PRKCA, PKCA|176960|17q22-q23.2 Placental steroid sulfatase deficiency (3) |STS, ARSC1, ARSC, SSDD|308100|Xp22.32 Plasmin inhibitor deficiency (3) |PLI, SERPINF2|262850|17pter-p12 Plasminogen Tochigi disease (3) |PLG|173350|6q26 Plasminogen activator deficiency (1) |PLAT, TPA|173370|8p12 Plasminogen deficiency, types I and II (1) |PLG|173350|6q26 Platelet PLC beta-2 deficiency (1) |PLCB2|604114|15q15 Platelet alpha/delta storage pool deficiency (1) |SELP, GRMP|173610|1q23-q25 Platelet disorder, familial, with associated myeloid malignancy, 601399 (3) |RUNX1, CBFA2, AML1|151385|21q22.3 Platelet glycoprotein IV deficiency, 608404 (3) |CD36, CHDS7|173510|7q11.2 Platelet-activating factor acetylhydrolase deficiency (3) |PLA2G7, PAFAH|601690|6p21.2-p12 Pneumothorax, primary spontaneous, 173600 (3) |FLCN, BHD|607273|17p11.2 Polycystic kidney and hepatic disease, 263200 (3) |FCYT, PKHD1, ARPKD|606702|6p21.1-p12 Polycystic kidney disease, adult type I, 173900 (3) |PKD1|601313|16p13.3-p13.12 Polycystic kidney disease, adult, type II (3) |PKD2, PKD4|173910|4q21-q23 Polycystic kidney disease, infantile severe, with tuberous sclerosis (3) |PKDTS|600273|16p13.3 Polycystic liver disease, 174050 (3) |PRKCSH, G19P1, PCLD|177060|19p13.2-p13.1 Polycystic liver disease, 174050 (3) |SEC63|608648|6q21 Polycystic ovary syndrome, 184700 (2) |FST, FS|136470|5q11.2 Polycythemia vera, 263300 (3) |JAK2|147796|9p24 Polycythemia, benign familial, 263400 (3) |VHL|608537|3p26-p25 Polydactyly, postaxial, type A3 (2) |PAPA3|607324|19p13.2-p13.1 Polydactyly, postaxial, type A4 (2) |PAPA4|608562|7q22 Polydactyly, postaxial, types A1 and B, 174200 (3) |GLI3, PAPA, PAPB, ACLS|165240|7p13 Polydactyly, preaxial type II, 174500 (3) |LMBR1, ACHP, C7orf2, PPD2|605522|7q36 Polydactyly, preaxial, type IV, 174700 (3) |GLI3, PAPA, PAPB, ACLS|165240|7p13 Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3) |LYK5, PMSE|608626|17q23.3 Polymicrogyria, bilateral frontoparietal, 606854 (3) |GPR56, TM7XN1, BFPP|604110|16q13 Polymicrogyria, bilateral perisylvian (2) |BPP, PMGX, CBPS|300388|Xq28 Polyposis syndrome, hereditary mixed, 2, 610069 (3) |BMPR1A, ACVRLK3, ALK3|601299|10q22.3 Polyposis syndrome, mixed hereditary 1 (2) |HMPS1, CRAC1|601228|15q15.3-q22.1 Polyposis, juvenile intestinal, 174900 (3) |BMPR1A, ACVRLK3, ALK3|601299|10q22.3 Polyposis, juvenile intestinal, 174900 (3) |MADH4, DPC4, SMAD4, JIP|600993|18q21.1 Pontocerebellar hypoplasia, type 6, 611523 (3) |RARS2, RARSL, PCH6|611524|6q16.1 Popliteal pterygium syndrome, 119500 (3) |IRF6, VWS, LPS, PIT, PPS, OFC6|607199|1q32-q41 Porencephaly, 175780 (3) |COL4A1|120130|13q34 Porokeratosis, disseminated superficial actinic, 1, 175900 (3) |SART3, P100, KIAA0156, TIP110, DSAP1|611684|12q24.1 Porokeratosis, disseminated superficial actinic, 2 (2) |DSAP2|607728|15q25.1-q26.1 Porphyria cutanea tarda (3) |UROD|176100|1p34 Porphyria variegata, 176200 (3) |HFE, HLA-H, HFE1|235200|6p21.3 Porphyria variegata, 176200 (3) |PPOX|600923|1q22 Porphyria, Chester type (2) |PORC|176010|11q23.1 Porphyria, acute hepatic (3) |ALAD|125270|9q34 Porphyria, acute intermittent, 176000 (3) |HMBS, PBGD, UPS|609806|11q23.3 Porphyria, acute intermittent, nonerythroid variant, 176000 (3) |HMBS, PBGD, UPS|609806|11q23.3 Porphyria, congenital erythropoietic, 263700 (3) |UROS|606938|10q25.2-q26.3 Porphyria, hepatoerythropoietic (3) |UROD|176100|1p34 Postaxial polydactyly, type A2 (2) |PAPA2|602085|13q21-q32 Posterior column ataxia with retinitis pigmentosa (2) |AXPC1, PCARP|609033|1q31-q32 Potocki-Lupski syndrome (3) |PTLS|610883|17p11.2 Potocki-Shaffer syndrome (3) |PSS|601224|11p11.2 Prader-Willi syndrome, 176270 (3) |NDN|602117|15q11-q13 Prader-Willi syndrome, 176270 (3) |SNRPN|182279|15q12 Preauricular fistulae, congenital (2) (?) |PAFC|128700|8q11.1-q13.3 Precocious puberty, central, 176400 (3) |GPR54|604161|19p13.3 Precocious puberty, male, 176410 (3) |LHCGR|152790|2p21 Preeclampsia/eclampsia 1 (2) |PEE1, PREG1|189800|2p13 Preeclampsia/eclampsia 2 (2) |PEE2|609402|2p25 Preeclampsia/eclampsia 3 (2) |PEE3|609403|9p13 Preeclampsia/eclampsia 4 (3) |STOX1, PEE4|609397|10q22.1 Prekallikrein deficiency (3) |KLKB1, KLK3|229000|4q35 Premature chromosome condensation with microcephaly and mental retardation, 606858 (3) |MCPH1|607117|8p23 Premature ovarian failure 2B, 300604 (3) |FLJ22792|300603|Xq21 Premature ovarian failure 3, 608996 (3) |FOXL2, BPES, BPES1, PFRK, POF3|605597|3q23 Premature ovarian failure 4, 300510 (3) |BMP15, GDF9B, ODG2, POF4|300247|Xp11.2 Premature ovarian failure 5, 611548 (3) |NOBOX, POF5|610934|7q35 Premature ovarian failure, 300511 (3) |DIAPH2, DIA, POF2|300108|Xq22 Primary lateral sclerosis, juvenile, 606353 (3) |ALS2, ALSJ, PLSJ, IAHSP|606352|2q33 Prinzmetal angina (1) (?) |KCNJ8|600935|12p11.23 Prion disease with protracted course, 606688 (3) |PRNP, PRIP|176640|20pter-p12 Progesterone resistance, 264080 (2) (?) |PGR|607311|11q22 Progressive external ophthalmoplegia with mitochondrial DNA deletions, 157640 (3) |POLG, POLG1, POLGA, PEO, SANDO, SCAE|174763|15q25 Progressive external ophthalmoplegia with mitochondrial DNA deletions, 157640 (3) |SLC25A4, ANT1, T1, PEO3|103220|4q35 Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286 (3) |C10orf2, TWINKLE, PEO1, PEOA3, SANDO, IOSCA|606075|10q24 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3) |POLG2, POLGB, PEOA4|604983|17q23-q24 Proguanil poor metabolizer (3) |CYP2C, CYP2C19|124020|10q24.1-q24.3 Prolactinoma, hyperparathyroidism, carcinoid syndrome (3) |MEN1|131100|11q13 Prolidase deficiency (3) |PEPD|170100|19cen-q13.11 Prolonged bleeding time, brachydac |GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO|139320|20q13.2 Properdin deficiency, X-linked, 312060 (3) |PFC, PFD|300383|Xp11.4-p11.23 Propionicacidemia, 606054 (3) |PCCA|232000|13q32 Propionicacidemia, 606054 (3) |PCCB|232050|3q21-q22 Prostate adenocarcinoma (2) |ST12, PAC1|601188|10pter-q11 Prostate cancer (3) |AR, DHTR, TFM, SBMA, KD, SMAX1|313700|Xq11-q12 Prostate cancer 1, 176807, 601518 (3) |RNASEL, RNS4, PRCA1, HPC1|180435|1q25 Prostate cancer, 176807 (3) |BRCA2, FANCD1|600185|13q12.3 Prostate cancer, familial, 176807 (3) |CHEK2, RAD53, CHK2, CDS1, LFS2|604373|22q12.1 Prostate cancer, hereditary, 176807 (3) |MSR1|153622|8p22 Prostate cancer, progression and metastasis of, 603688 (3) |EPHB2, EPHT3, DRT, ERK, PCBC, CAPB|600997|1p36.1-p35 Prostate cancer, somatic, 176807 (3) |KLF6, COPEB, BCD1, ZF9|602053|10p15 Prostate cancer, somatic, 176807 (3) |MAD1L1, TXBP181|602686|7p22 Protein C inhibitor deficiency (2) |PCI, PLANH3, SERPINA5|601841|14q32.1 Protein S deficiency (3) |PROS1|176880|3p11.1-q11.2 Protein-tyrosine kinase 2 deficiency, 611521 (3) |TYK2|176941|19p13.2 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3) |CLCN5, CLCK2, NPHL2, DENTS, NPHL1|300008|Xp11.22 Proteus syndrome, 176920 (3) |PTEN, MMAC1|601728|10q23.31 Protoporphyria, erythropoietic (3) |FECH, FCE|177000|18q21.3 Protoporphyria, erythropoietic, recessive, with liver failure (3) |FECH, FCE|177000|18q21.3 Proud syndrome, 300004 (3) |ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43|300382|Xp22.13 Pseudarthrosis, tibial, in NF1 (3) |NF1, VRNF, WSS, NFNS|162200|17q11.2 Pseudo-Zellweger syndrome, 261515 (1) |ACAA1|604054|3p23-p22 Pseudoachondroplasia, 177170 (3) |COMP, EDM1, MED, PSACH|600310|19p13.1 Pseudohermaphroditism, female, due to placental aromatase deficiency (3) |CYP19A1, CYP19, ARO|107910|15q21.1 Pseudohermaphroditism, male, with Leydig cell hypoplasia (3) |LHCGR|152790|2p21 Pseudohermaphroditism, male, with gynecomastia, 264300 (3) |HSD17B3, EDH17B3|605573|9q22 Pseudohyperkalemia, familial, 177720 (2) |DHS|194380|16q23-q24 Pseudohyperkalemia, familial, 2, due to red cell leak (2) |PSHK2|609153|2q35-q36 Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3) |NR3C2, MLR, MCR|600983|4q31.1 Pseudohypoaldosteronism type II, 145260 (3) |WNK4, PRKWNK4, PHA2B|601844|17q21-q22 Pseudohypoaldosteronism, type I, 264350 (3) |SCNN1A|600228|12p13 Pseudohypoaldosteronism, type I, 264350 (3) |SCNN1B|600760|16p13-p12 Pseudohypoaldosteronism, type I, 264350 (3) |SCNN1G, PHA1|600761|16p13-p12 Pseudohypoaldosteronism, type II (2) |PHA2A, PHA2|145260|1q31-q42 Pseudohypoaldosteronism, type IIC, 145260 (3) |WNK1, PRKWNK1, KDP, PHA2C|605232|12p13 Pseudohypoparathyroidism, type Ia, 103580 (3) |GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO|139320|20q13.2 Pseudohypoparathyroidism, type Ib, 603233 (3) |GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO|139320|20q13.2 Pseudovaginal perineoscrotal hypospadias, 264600 (3) |SRD5A2|607306|2p23 Pseudoxanthoma elasticum, 264800 (3) |ABCC6, ARA, ABC34, MLP1, PXE|603234|16p13.1 Pseudoxanthoma elasticum, forme fruste, 177850 (3) |ABCC6, ARA, ABC34, MLP1, PXE|603234|16p13.1 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3) |GGCX|137167|2p12 Ptosis, congenital, 178300 (2) (?) |ZFH4|606940|8q21.12 Ptosis, hereditary congenital 2 (2) |PTOS2, PTOSX|300245|Xq24-q27.1 Ptosis, hereditary congenital, 1 (2) |PTOS1|178300|1p34.1-p32 Pulmonary alveolar microlithiasis, 265100 (3) |SLC34A2|604217|4p15.31-p15.2 Pulmonary disease, chronic obstructive, severe early-onset (2) |COPD|606963|2q Pulmonary hypertension, familial primary, 178600 (3) |BMPR2, PPH1|600799|2q33 Pulmonary hypertension, primary, fenfluramine-associated, 178600 (3) |BMPR2, PPH1|600799|2q33 Pulmonary venoocclusive disease, 265450 (3) |BMPR2, PPH1|600799|2q33 Purpura fulminans, neonatal (1) |PROC|176860|2q13-q14 Pycnodysostosis, 265800 (3) |CTSK|601105|1q21 Pyloric stenosis, infantile hypertrophic, 2 (2) |IHPS2|610260|16p13-p12 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 (3) |PSTPIP1, PSTPIP, CD2BP1, PAPAS|606347|15q24-q25.1 Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3) |PNPO|603287|17q21.32 Pyropoikilocytosis, 266140 (3) |SPTA1|182860|1q21 Pyruvate carboxylase deficiency, 266150 (3) |PC|608786|11q13.4-q13.5 Pyruvate dehydrogenase E1-beta deficiency (3) |PDHB|179060|3p13-q23 Pyruvate dehydrogenase deficiency, 312170 (3) |PDHA1, PHE1A|300502|Xp22.2-p22.1 Pyruvate dehydrogenase phosphatase deficiency, 608782 (3) |PPM2C, PDP1, PDPC|605993|8q22.1 Pyruvate kinase deficiency, 266200 (3) |PKLR, PK1|609712|1q21 QT interval, modifier of, 610141 (3) |NOS1AP, CAPON, KIAA0464|605551|1q23.3 RAPADILINO syndrome, 266280 (3) |RECQL4, RTS, RECQ4|603780|8q24.3 Rabson-Mendenhall syndrome, 262190 (3) |INSR, HHF5|147670|19p13.2 Radial ray deficiency (2) |RRDX|300378|Xq24-q25 Radiation sensitivity/chromosome instability syndrome, autosomal dominant (1) |RSCIS|605463|14q11.2 Radioulnar synostosis with amegakaryocytic thrombocytopenia, 605432 (3) |HOXA11, HOX1I|142958|7p15-p14.2 Ragweed sensitivity (2) (?) |RWS|179450|6p21.3 Raine syndrome, 259775 (3) |FAM20C, DMP4|611061|7p22 Rapp-Hodgkin syndrome, 129400 (3) |TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS, OFC8|603273|3q27 Refsum disease, 266500 (3) |PEX7, RCDP1|601757|6q22-q24 Refsum disease, 266500 (3) |PHYH, PAHX|602026|10pter-p11.2 Refsum disease, adult, with increased pipecolicacidemia (2) |RDPA|600964|10pter-p11.2 Refsum disease, infantile form, 266510 (3) |PEX26|608666|22q11.21 Refsum disease, infantile form, 266510 (3) |PXMP3, PAF1, PMP35, PEX2|170993|8q21.1 Refsum disease, infantile, 266510 (3) |PEX1, ZWS1|602136|7q21-q22 Renal adysplasia, 191830 (3) |UPK3A, UPK3, UPIII|611559|22q13.31 Renal agenesis, 191830 (3) |RET, MEN2A|164761|10q11.2 Renal carcinoma, chromophobe, somatic, 144700 (3) |FLCN, BHD|607273|17p11.2 Renal cell carcinoma, 144700 (2) |DIRC2, RCC4|602773|3q21 Renal cell carcinoma, 144700 (3) |HNF1A, TCF1, MODY3|142410|12q24.2 Renal cell carcinoma, 144700 (3) |RNF139, TRC8, RCA1, HRCA1|603046|8q24.1 Renal cell carcinoma, clear cell, somatic, 144700 (3) |OGG1|601982|3p26.2 Renal cell carcinoma, papillary, 1, 605074 (3) |PRCC, RCCP1|179755|1q21 Renal cell carcinoma, papillary, 1, 605074 (3) |TFE3|314310|Xp11.22 Renal cell carcinoma, papillary, 3 (2) |RCCP3|605075|17q21.32 Renal cell carcinoma, papillary, familial and sporadic, 605074 (3) |MET, AUTS9|164860|7q31 Renal cell carcinoma, somatic, 144700 (3) |VHL|608537|3p26-p25 Renal cysts and diabetes syndrome, 137920 (3) |HNF1B, TCF2, HNF2, MODY5, FJHN, HPC11|189907|17q12 Renal glucosuria, 233100 (3) |SLC5A2, SGLT2|182381|16p11.2 Renal hypodysplasia, nonsyndromic, 1 (2) |RHDNS1|610805|1p33-p32 Renal hypoplasia, isolated (3) |PAX2|167409|10q24.3-q25.1 Renal tubular acidosis with deafness, 267300 (3) |ATP6B1, VPP3|192132|2cen-q13 Renal tubular acidosis, distal, AD, 179800 (3) |SLC4A1, AE1, EPB3|109270|17q21-q22 Renal tubular acidosis, distal, AR, 611590 (3) |SLC4A1, AE1, EPB3|109270|17q21-q22 Renal tubular acidosis, distal, autosomal recessive, 602722 (3) |ATP6V0A4, ATP6N1B, VPP2, RTA1C, RTADR|605239|7q33-q34 Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3) |SLC4A4, NBC1, KNBC, SLC4A5|603345|4q21 Renal tubular dysgenesis, 267430 (3) |ACE, DCP1, ACE1|106180|17q23 Renal tubular dysgenesis, 267430 (3) |AGT, SERPINA8|106150|1q42-q43 Renal tubular dysgenesis, 267430 (3) |AGTR1, AGTR1A, AT2R1|106165|3q21-q25 Renal tubular dysgenesis, 267430 (3) |REN|179820|1q32 Renpenning syndrome, 309500 (3) |PQBP1, NPW38, SHS, MRX55, MRXS3, RENS1, MRXS8|300463|Xp11.23 Restrictive dermopathy, lethal, 275210 (3) |ZMPSTE24, FACE1, STE24, MADB|606480|1p34 Retinal cone dystrophy 2 (2) |RCD2|601251|17p Retinal cone dystrophy 3, 610024 (3) |PDE6H, RCD3|601190|12p13 Retinal cone dystrophy 4, 610478 (3) |CACNA2D4, RCD4|608171|12p13.3 Retinal cone dystrophy-1 (2) (?) |RCD1|180020|6q25-q26 Retinal degeneration, autosomal recessive, clumped pigment type (3) |NRL, D14S46E, RP27|162080|14q11.1-q11.2 Retinal degeneration, autosomal recessive, prominin-related (3) |PROM1, PROML1, AC133|604365|4p16.2-p12 Retinal degeneration, late-onset, autosomal dominant, 605670 (3) |C1QTNF5, CTRP5, LORD|608752|11q23.3 Retinal dystrophy, early-onset severe (3) |LRAT|604863|4q31 Retinal dystrophy, early-onset severe, 248200 (3) |ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2|601691|1p21-p13 Retinal nonattachment, nonsyndromic congenital (2) |RNANC, NCRNA|221900|10q21 Retinitis pigmentosa 23 (2) |RP23|300424|Xp22 Retinitis pigmentosa 34 (2) |RP34|300605|Xq28 Retinitis pigmentosa 35, 610282 (3) |SEMA4A, SEMB, RP35, CORD10|607292|1q22 Retinitis pigmentosa 36, 610599 (3) |PRCD, RP36|610598|17q22 Retinitis pigmentosa 40 (3) |PDE6B, PDEB, CSNB3|180072|4p16.3 Retinitis pigmentosa, AR, 268000 (3) |RLBP1|180090|15q26 Retinitis pigmentosa, X-linked with deafness and sinorespiratory infections, 300455 (3) |RPGR, RP3, CRD, RP15, COD1|312610|Xp21.1 Retinitis pigmentosa, X-linked, with recurrent respiratory infections, 300455 (3) |RPGR, RP3, CRD, RP15, COD1|312610|Xp21.1 Retinitis pigmentosa, Y-linked (2) |RPY|400004|Chr.Y Retinitis pigmentosa, autosomal dominant (3) |RGR|600342|10q23 Retinitis pigmentosa, autosomal recessive (3) |CNGA1, CNCG1|123825|4p12-cen Retinitis pigmentosa, autosomal recessive (3) |PDE6A, PDEA|180071|5q31.2-q34 Retinitis pigmentosa, autosomal recessive (3) |RGR|600342|10q23 Retinitis pigmentosa, autosomal recessive (3) |RHO, RP4, OPN2|180380|3q21-q24 Retinitis pigmentosa, autosomal recessive, 268000 (3) |CNGB1, CNCG3L, CNCG2|600724|16q13 Retinitis pigmentosa, digenic (3) |ROM1, ROSP1|180721|11q13 Retinitis pigmentosa, digenic, 608133 (3) |RDS, RP7, PRPH2, PRPH, AVMD, AOFMD|179605|6p21.1-cen Retinitis pigmentosa, juvenile (3) |AIPL1, LCA4|604392|17p13.1 Retinitis pigmentosa, late-onset dominant, 268000 (3) |CRX, CORD2, CRD, LCA7|602225|19q13.3 Retinitis pigmentosa-1, 180100 (3) |RP1, ORP1|603937|8q11-q13 Retinitis pigmentosa-10, 180105 (3) |IMPDH1, RP10, LCA11|146690|7q31.3-q32 Retinitis pigmentosa-11, 600138 (3) |PRPF31, PRP31|606419|19q13.4 Retinitis pigmentosa-12, autosomal recessive, 600105 (3) |CRB1, RP12, LCA8|604210|1q31-q32.1 Retinitis pigmentosa-13, 600059 (3) |PRPF8, PRPC8, RP13|607300|17p13.3 Retinitis pigmentosa-14, 600132 (3) |TULP1, RP14|602280|6p21.3 Retinitis pigmentosa-17, 600852 (3) |CA4, RP17|114760|17q23 Retinitis pigmentosa-18, 601414 (3) |HPRP3, RP18|607301|1q21.2 Retinitis pigmentosa-19, 601718 (3) |ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2|601691|1p21-p13 Retinitis pigmentosa-2 (3) |RP2|312600|Xp11.3 Retinitis pigmentosa-20 (3) |RPE65, RP20|180069|1p31 Retinitis pigmentosa-22 (2) |RP22|602594|16p12.3-p12.1 Retinitis pigmentosa-24 (2) |RP24|300155|Xq26-q27 Retinitis pigmentosa-25 (2) |RP25|602772|6q14-q21 Retinitis pigmentosa-26, 608380 (3) |CERKL|608381|2q31.2-q32.3 Retinitis pigmentosa-27 (3) |NRL, D14S46E, RP27|162080|14q11.1-q11.2 Retinitis pigmentosa-28 (2) |RP28|606068|2p15-p11 Retinitis pigmentosa-3, 300389 (3) |RPGR, RP3, CRD, RP15, COD1|312610|Xp21.1 Retinitis pigmentosa-30, 607921 (3) |FSCN2, RFSN|607643|17q25 Retinitis pigmentosa-31, 609923 (3) |TOPORS, P53BP3, LUN, RP31|609507|9p21 Retinitis pigmentosa-32 (2) |RP32|609913|1p21.3-p13.3 Retinitis pigmentosa-37, 611131 (3) |NR2E3, PNR, ESCS|604485|15q23 Retinitis pigmentosa-38, 268000 (3) |MERTK, RP38|604705|2q14.1 Retinitis pigmentosa-39, 268000 (3) |USH2A, RP39|608400|1q41 Retinitis pigmentosa-4, autosomal dominant (3) |RHO, RP4, OPN2|180380|3q21-q24 Retinitis pigmentosa-6 (2) (?) |RP6|312612|Xp21.3-p21.2 Retinitis pigmentosa-7, 608133 (3) |RDS, RP7, PRPH2, PRPH, AVMD, AOFMD|179605|6p21.1-cen Retinitis pigmentosa-9, 180104 (3) |RP9|607331|7p14.2 Retinitis punctata albescens, 136880 (3) |RDS, RP7, PRPH2, PRPH, AVMD, AOFMD|179605|6p21.1-cen Retinitis punctata albescens, 136880 (3) |RLBP1|180090|15q26 Retinoblastoma (3) |RB1|180200|13q14.1-q14.2 Retinol binding protein, deficiency of (3) |RBP4|180250|10q24 Retinopathy of prematurity, 133780 (3) |FZD4, EVR1|604579|11q14-q21 Retinoschisis (3) |RS1, XLRS1|312700|Xp22.2-p22.1 Rett syndrome, 312750 (3) |MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16|300005|Xq28 Rett syndrome, atypical, 312750 (3) |CDKL5, STK9, ISSX|300203|Xp22 Rett syndrome, preserved speech variant, 312750 (3) |MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16|300005|Xq28 Rh-mod syndrome (3) |RHAG, RH50A|180297|6p21.1-p11 Rh-null disease, amorph type (3) |RHCE|111700|1p36.2-p34 Rhabdoid predisposition syndrome, familial (3) |SMARCB1, SNF5, INI1, RDT|601607|22q11 Rhabdoid tumors (3) |SMARCB1, SNF5, INI1, RDT|601607|22q11 Rhabdomyolysis, cerivastatin-induced (3) |CYP2C8|601129|10q23.3 Rhabdomyosarcoma, 268210 (3) |SLC22A1L, BWSCR1A, IMPT1|602631|11p15.5 Rhabdomyosarcoma, alveolar, 268220 (3) |FOXO1A, FKHR|136533|13q14.1 Rhabdomyosarcoma, alveolar, 268220 (3) |PAX3, WS1, HUP2, CDHS|606597|2q35 Rhabdomyosarcoma, alveolar, 268220 (3) |PAX7|167410|1p36.2-p36.12 Rhizomelic chondrodysplasia punctata, type 1, 215100 (3) |PEX7, RCDP1|601757|6q22-q24 Rhizomelic chondrodysplasia punctata, type 3, 600121 (3) |AGPS, ADHAPS|603051|2q31 Ribose 5-phosphate isomerase deficiency, 608611 (3) |RPIA, RPI|180430|2p11.2 Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3) |CYP2R1|608713|11p15.2 Rickets, vitamin D-resistant, type IIA, 277440 (3) |VDR|601769|12q12-q14 Rieger anomaly (3) |FOXC1, FKHL7, FREAC3|601090|6p25 Rieger syndrome, 180500 (3) |PITX2, IDG2, RIEG1, RGS, IGDS2|601542|4q25-q26 Rieger syndrome, type 2 (2) |RIEG2, RGS2|601499|13q14 Ring dermoid of cornea, 180550 (3) |PITX2, IDG2, RIEG1, RGS, IGDS2|601542|4q25-q26 Rippling muscle disease, 606072 (3) |CAV3, LGMD1C, LQT9|601253|3p25 Rippling muscle disease-1, 606072 (2) |RMD1|600332|1q41 Roberts syndrome, 268300 (3) |ESCO2|609353|8p21.1 Robinow syndrome, autosomal recessive, 268310 (3) |ROR2, BDB1, BDB, NTRKR2|602337|9q22 Roifman syndrome (2) |RFMN|300258|Chr.X Rokitansky-Kuster-Hauser syndrome, 277000 (3) |WNT4, SERKAL|603490|1p35 Roladic epilepsy, mental retardation, and speech dyspraxia, 300642 (3) |SRPX2, SRPUL, RESDX|300642|Xq21.33-q23 Rothmund-Thomson syndrome, 268400 (3) |RECQL4, RTS, RECQ4|603780|8q24.3 Roussy-Levy syndrome, 180800 (3) |MPZ, CMT1B, CMTDI3, CHM, DSS|159440|1q22 Roussy-Levy syndrome, 180800 (3) |PMP22, CMT1A, CMT1E, DSS|601097|17p11.2 Rubenstein-Taybi syndrome, 180849 (3) |CREBBP, CBP, RSTS|600140|16p13.3 Rubinstein-Taybi syndrome, 180849 (3) |EP300|602700|22q13 SARS infection, protection against (2) |CLEC4M, CD209L, LSIGN, DCSIGNR|605872|19p13.3 SC phocomelia syndrome, 269000 (3) |ESCO2|609353|8p21.1 SCID due to LCK deficiency (1) |LCK|153390|1p35-p34.3 SCID, autosomal recessive, T-negative/B-positive type (3) |JAK3, JAKL|600173|19p13.1 SED congenita, 183900 (3) |COL2A1|120140|12q13.11-q13.2 SED, Namaqualand type (3) |COL2A1|120140|12q13.11-q13.2 SEMD, Pakistani type (3) |PAPSS2, ATPSK2|603005|10q22-q24 SERKAL syndrome, 611812 (3) |WNT4, SERKAL|603490|1p35 SMED Strudwick type, 184250 (3) |COL2A1|120140|12q13.11-q13.2 STAR syndrome, 300707 (3) |FAM58A, STAR|300708|Xq28 STAT1 deficiency, complete (3) |STAT1|600555|2q32.2-q32.3 Saccharopinuria, 268700 (1) |AASS|605113|7q31.3 Saethre-Chotzen syndrome with eyelid anomalies, 101400 (3) |TWIST, ACS3, SCS|601622|7p21 Saethre-Chotzen syndrome, 101400 (3) |FGFR2, BEK, CFD1, JWS|176943|10q26 Saethre-Chotzen syndrome, 101400 (3) |TWIST, ACS3, SCS|601622|7p21 Salivary adenoma (3) |HMGA2, HMGIC, BABL, LIPO, STQTL9|600698|12q14.3 Salla disease, 604369 (3) |SLC17A5, SIASD, SLD|604322|6q14-q15 Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3) |HEXB|606873|5q13 Sanfilippo syndrome, type A, 252900 (3) |SGSH, MPS3A, SFMD|605270|17q25.3 Sanfilippo syndrome, type B, 252920 (3) |NAGLU|609701|17q21 Sanfilippo syndrome, type C, 252930 (3) |HGSNAT, TMEM76, MPS3C|610453|8p11.1 Sarcoidosis, early-onset, 609464 (3) |NOD2, CARD15, IBD1, CD, ACUG, PSORAS1|605956|16q12 Sarcoma, synovial (1) |SS18, SSXT, SYT|600192|18q11.2 Sarcoma, synovial (1) |SSX4|300326|Xp11.2 Sarcoma, synovial (3) |SSX1, SSRC|312820|Xp11.2 Sarcoma, synovial (3) |SSX2|300192|Xp11.2 Scapuloperoneal myopathy, X-linked dominant, 300695 (3) |FHL1, SLIM1, XMPMA|300163|Xq27.2 Scapuloperoneal spinal muscular atrophy, New England type (2) |SPSMA|181405|12q24.1-q24.31 Scapuloperoneal syndrome, myopathic type, 181430 (3) |MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD|160760|14q12 Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3) |DES, CMD1I|125660|2q35 Schimke immunoosseous dysplasia, 242900 (3) |SMARCAL1, HARP, SIOD|606622|2q34-q36 Schindler disease, type I, 609241 (3) |NAGA|104170|22q11 Schindler disease, type III, 609241 (3) |NAGA|104170|22q11 Schizencephaly, 269160 (3) |EMX2|600035|10q26.1 Schizophrenia, 181500 (2) |DISC2|606271|1q42.1 Schizophrenia, neurophysiologic defect in (2) |CHRNA7|118511|15q14 Schwannomatosis, 162091 (3) |NF2|607379|22q12.2 Schwartz-Jampel syndrome, type 1, 255800 (3) |HSPG2, PLC, SJS, SJA, SJS1|142461|1p36.1 Sclerosteosis, 269500 (3) |SOST, VBCH|605740|17q12-q21 Scoliosis, idiopathic 1 (2) |IS1, AIS|181800|19p13.3 Scoliosis, idiopathic 2 (2) |IS2, AIS2|607354|17p11.2 Scurvy (3) |GULOP, GULO|240400|8p21.1 Sea-blue histiocyte disease, 269600 (3) |APOE, AD2, LPG|107741|19q13.2 Sebaceous tumors, somatic (3) |LEF1|153245|4q23-q25 Sebastian syndrome, 605249 (3) |MYH9, MHA, FTNS, DFNA17|160775|22q11.2 Seborrhea-like dermatitis with psoriasiform elements, 610227 (3) |ZNF750, FLJ13841|610226|17q25.3 Seckel syndrome 1, 210600 (3) |ATR, FRP1, SCKL|601215|3q22-q24 Seckel syndrome 2 (2) |SCKL2|606744|18p11.31-q11.2 Seckel syndrome 3 (2) |SCKL3|608664|14q21-q22 Seckel syndrome 4, 611860 (3) |PCTN2, KEN, SCKL4|605925|21q22.3 Segawa syndrome, recessive (3) |TH, TYH|191290|11p15.5 Seizures, afebrile, 604233 (3) |SCN2A1, SCN2A|182390|2q23-q24.3 Seizures, benign familial neonatal-infantile, 607745 (3) |SCN2A1, SCN2A|182390|2q23-q24.3 Selective T-cell defect (3) |ZAP70, SRK, STD|176947|2q12 Self-healing collodion baby, 242300 (3) |TGM1, ICR2, LI1|190195|14q11.2 Senior-Loken syndrome 3 (2) |SLSN3|606995|3q22 Senior-Loken syndrome 4, 606996 (3) |NPHP4, SLSN4|607215|1p36 Senior-Loken syndrome 5, 609254 (3) |IQCB1, NPHP5, KIAA0036|609237|3q21.1 Senior-Loken syndrome 6, 610189 (3) |CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10|610142|12q21.3 Senior-Loken syndrome-1, 266900 (3) |NPHP1, NPH1, SLSN1, JBTS4|607100|2q13 Sensory ataxia neuropathy, dysarthria, and ophthalmoparesis, 607459 (3) |C10orf2, TWINKLE, PEO1, PEOA3, SANDO, IOSCA|606075|10q24 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, 607459 (3) |POLG, POLG1, POLGA, PEO, SANDO, SCAE|174763|15q25 Sepiapterin reductase deficiency (3) |SPR|182125|2p14-p12 Septooptic dysplasia, 182230 (3) |HESX1, RPX|601802|3p21.2-p21.1 Sertoli-cell-only syndrome (1) (?) |DAZ|400003|Yq11 Sertoli-cell-only syndrome, 400042 (1) (?) |ZNF148, ZFP148|601897|3q21 Severe combined immunodeficiency due to ADA deficiency, 102700 (3) |ADA|608958|20q13.11 Severe combined immunodeficiency due to IL2 deficiency (1) |IL2|147680|4q26-q27 Severe combined immunodeficiency due to PTPRC deficiency (3) |PTPRC, CD45, LCA|151460|1q31-q32 Severe combined immunodeficiency, Athabascan type, 602450 (3) |DCLRE1C, ARTEMIS, SCIDA|605988|10p Severe combined immunodeficiency, B cell-negative, 601457 (3) |RAG1|179615|11p13 Severe combined immunodeficiency, B cell-negative, 601457 (3) |RAG2|179616|11p13 Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 600802 (3) |IL7R|146661|5p13 Severe combined immunodeficiency, T-negative/B-positive type, 600802 (3) |CD3D, T3D|186790|11q23 Severe combined immunodeficiency, X-linked, 300400 (3) |IL2RG, SCIDX1, SCIDX, IMD4|308380|Xq13 Severe combined immunodeficiency, autosomal recessive, with CRAC channel dysfunction (3) |TMEM142A, CRACM1, ORAT1|610277|12q24 Severe combined immunodeficiency, type I, 202500 (1) (?) |PRKDC, HYRC1, DNPK1|600899|8q11 Sex reversal, XY, with/without adrenal failure (3) |FTZF1, FTZ1, SF1|184757|9q33 Sezary syndrome (3) |BCL10|603517|1p22 Shah-Waardenburg syndrome, 277580 (3) |EDN3|131242|20q13.2-q13.3 Short QT syndrome-1, 609620 (3) |KCNH2, LQT2, HERG, SQT1|152427|7q35-q36 Short QT syndrome-2, 609621 (3) |KCNQ1, KCNA9, LQT1, KVLQT1, ATFB1, SQT2|607542|11p15.5 Short QT syndrome-3, 609622 (3) |KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3|600681|17q23.1-q24.2 Short stature, 604271 (3) |GHSR|601898|3q26.3 Short stature, autosomal dominant, with normal serum growth hormone binding protein (3) |GHR|600946|5p13-p12 Short stature, familial, 604271 (3) |GH1, GHN|139250|17q22-q24 Short stature, idiopathic (3) |GHR|600946|5p13-p12 Short stature, idiopathic familial, 604271 (3) |SHOX, GCFX, SS, PHOG|312865|Xpter-p22.32 Short stature, idiopathic familial, 604271 (3) |SHOXY|400020|Ypter-p11.2 Short stature, pituitary and cerebellar defects, and small sella turcica, 606606 (3) |LHX4|602146|1q25 Shprintzen-Goldberg syndrome, 182212 (3) |FBN1, MFS1, WMS|134797|15q21.1 Shwachman-Bodian-Diamond syndrome, 260400 (3) |SBDS, SDS|607444|7q11 Sialic acid storage disorder, infantile, 269920 (3) |SLC17A5, SIASD, SLD|604322|6q14-q15 Sialidosis, type I, 256550 (3) |NEU1, NEU, SIAL1|608272|6p21.3 Sialidosis, type II, 256550 (3) |NEU1, NEU, SIAL1|608272|6p21.3 Sialuria, 269921 (3) |GNE, GLCNE, IBM2, DMRV, NM|603824|9p12-p11 Sick sinus syndrome 1, 608567 (3) |SCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2|600163|3p21 Sick sinus syndrome 2, 163800 (3) |HCN4|605206|15q24-q25 Sickle cell anemia (3) |HBB|141900|11p15.5 Silver spastic paraplegia syndrome, 270685 (3) |BSCL2, SPG17, HMN5|606158|11q13 Silver-Russell syndrome (2) |SRS, RSS|180860|7p11.2 Silver-Russell syndrome, 180860 (3) |H19, D11S813E, ASM1, BWS|103280|11p15.5 Simpson-Golabi-Behmel syndrome, type 1, 312870 (3) |GPC3, SDYS, SGBS1|300037|Xq26 Simpson-Golabi-Behmel syndrome, type 2 (2) |SGBS2|300209|Xp22 Simpson-Golabi-Behmel syndrome, type 2, 300209 (3) |OFD1, CXorf5, SGBS2|300170|Xp22.3-p22.2 Sitosterolemia, 210250 (3) |ABCG5|605459|2p21 Sitosterolemia, 210250 (3) |ABCG8|605460|2p21 Situs ambiguus (3) |NODAL|601265|Chr.10 Sjogren-Larsson syndrome, 270200 (3) |ALDH3A2, ALDH10, SLS, FALDH|609523|17p11.2 Skin fragility-woolly hair syndrome, 607655 (3) |DSP, KPPS2, PPKS2|125647|6p24 Skin/hair/eye pigmentation 9, dark/light hair, 611742 (3) |ASIP, AGTIL, SHEP9|600201|20q11.2 Slowed nerve conduction velocity, AD, 608236 (3) |ARHGEF10, KIAA0294|608136|8p23 Small patella syndrome, 147891 (3) |TBX4|601719|17q21-q22 Small-cell cancer of lung (2) |SCLC1|182280|3p23-p21 Smith-Lemli-Opitz syndrome, 270400 (3) |DHCR7, SLOS|602858|11q12-q13 Smith-Magenis syndrome, 182290 (3) |RAI1, SMCR, SMS|607642|17p11.2 Smith-McCort dysplasia, 607326 (3) |DYM, FLJ90130, DMC, SMC|607461|18q12-q21.1 Snowflake vitreoretinal degeneration, 193230 (3) |KCNJ13, SVD|603208|2q37 Solitary median maxillary central incisor, 147250 (3) |SHH, HPE3, HLP3, SMMCI, MCOPCB5|600725|7q36 Somatotrophinoma (3) |GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO|139320|20q13.2 Sorsby fundus dystrophy, 136900 (3) |TIMP3, SFD|188826|22q12.1-q13.2 Sotos syndrome, 117550 (3) |NSD1, ARA267, STO|606681|5q35 Spastic ataxia 1, autosomal dominant (2) |SPAX1|108600|12p13 Spastic ataxia, Charlevoix-Saguenay type, 270550 (3) |SACS, ARSACS|604490|13q12 Spastic paralysis, infantile onset ascending, 607225 (3) |ALS2, ALSJ, PLSJ, IAHSP|606352|2q33 Spastic paraplegia 10, 604187 (3) |KIF5A, NKHC, SPG10|602821|12q13 Spastic paraplegia 14, autosomal recessive (2) |SPG14|605229|3q27-q28 Spastic paraplegia 24 (2) |SPG24|607584|13q14 Spastic paraplegia 25 (2) |SPG25|608220|6q23-q24.1 Spastic paraplegia 26 (2) |SPG26|609195|12p11.1-q14 Spastic paraplegia 31, 610250 (3) |REEP1, C2ORF23, SPG31|609139|2p11.2 Spastic paraplegia 33, 610244 (3) |ZFYVE27, SPG33|610243|10q24.2 Spastic paraplegia, optic atrophy, and neuropathy (2) |SPOAN|609541|11q13 Spastic paraplegia-11, 604360 (3) |SPG11, KIAA1840, FLJ21439|610844|15q21.1 Spastic paraplegia-12 (2) |SPG12|604805|19q13 Spastic paraplegia-13, 605280 (3) |HSPD1, SPG13, HSP60|118190|2q33.1 Spastic paraplegia-15 (2) |SPG15|270700|14q22-q24 Spastic paraplegia-16, X-linked, complicated (2) |SPG16|300266|Xq11.2 Spastic paraplegia-19 (2) |SPG19|607152|9q Spastic paraplegia-2, 312920 (3) |PLP1, PMD|300401|Xq22 Spastic paraplegia-27 (2) |SPG27|609041|10q22.1-q24.1 Spastic paraplegia-28 (2) |SPG28|609340|14q21.3-q22.3 Spastic paraplegia-29 (2) |SPG29|609727|1p31.1-p21.1 Spastic paraplegia-3A, 182600 (3) |SPG3A|606439|14q11-q21 Spastic paraplegia-4, 182601 (3) |SPG4, SPAST|604277|2p22-p21 Spastic paraplegia-5A (2) |SPG5A|270800|8p12-q13 Spastic paraplegia-6, 600363 (3) |NIPA1, SPG6|608145|15q11.1 Spastic paraplegia-7, 607259 (3) |PGN, SPG7, CMAR, CAR|602783|16q24.3 Spastic paraplegia-8, 603563 (3) |KIAA0196, SPG8|610657|8q24.13 Spastic paraplegia-9 (2) |SPG9|601162|10q23.3-q24.1 Specific granule deficiency, 245480 (3) |CEBPE, CRP1|600749|14q11.2 Specific language impairment QTL, 1 (2) |SLI1|606711|16q Specific language impairment QTL, 2 (2) |SLI2|606712|19q Specific language impairment QTL, 3 (2) |SLI3|607134|13q21 Speech-language disorder-1, 602081 (3) |FOXP2, SPCH1, TNRC10, CAGH44|605317|7q31 Spherocytosis (3) |SLC4A1, AE1, EPB3|109270|17q21-q22 Spherocytosis, hereditary, Japanese type (3) |EPB42|177070|15q15 Spherocytosis, recessive, 270970 (3) |SPTA1|182860|1q21 Spherocytosis-1 (3) |SPTB|182870|14q22-q23.2 Spherocytosis-2 (3) |ANK1, SPH2|182900|8p11.2 Spiegler-Brooke syndrome (2) |SBS|605041|16q12-q13 Spinal and bulbar muscular atrophy of Kennedy, 313200 (3) |AR, DHTR, TFM, SBMA, KD, SMAX1|313700|Xq11-q12 Spinal cerebellar ataxia 18 (2) |SCA18, SMNA|607458|7q22-q32 Spinal muscular atrophy, chronic distal, autosomal recessive (2) |SMAR|607088|11q13 Spinal muscular atrophy, congenital nonprogressive, of lower limbs (2) |SMAL|600175|12q23-q24 Spinal muscular atrophy, distal, X-linked 3 (2) |DSMAX, SMAX3|300489|Xq13.1-q21 Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3) |PLEKHG5, KIAA0720, DSMA4|611101|1p36 Spinal muscular atrophy, juvenile (3) |HEXB|606873|5q13 Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) |VAPB, VAPC, ALS8|605704|20q13.3 Spinal muscular atrophy-1, 253300 (3) |SMN1, SMA1, SMA2, SMA3, SMA4|600354|5q12.2-q13.3 Spinal muscular atrophy-2, 253550 (3) |SMN1, SMA1, SMA2, SMA3, SMA4|600354|5q12.2-q13.3 Spinal muscular atrophy-3, 253400 (3) |SMN1, SMA1, SMA2, SMA3, SMA4|600354|5q12.2-q13.3 Spinal muscular atrophy-4, 271150 (3) |SMN1, SMA1, SMA2, SMA3, SMA4|600354|5q12.2-q13.3 Spinocerebellar ataxia 12, 604326 (3) |PPP2R2B|604325|5q31-q33 Spinocerebellar ataxia 14, 605361 (3) |PRKCG, PKCC, PKCG, SCA14|176980|19q13.4 Spinocerebellar ataxia 15 (2) |SCA15|606658|3p26.1-p25.3 Spinocerebellar ataxia 16, 606364 (3) |CNTN4, SCA16|607280|3p26-p25 Spinocerebellar ataxia 17, 607136 (3) |TBP, SCA17|600075|6q27 Spinocerebellar ataxia 19 (2) |SCA19|607346|1p21-q21 Spinocerebellar ataxia 20 (2) |SCA20|608687|11p13-q11 Spinocerebellar ataxia 23 (2) |SCA23|610245|20p13-p12.3 Spinocerebellar ataxia 25 (3) |SCA25|608703|2p21-p13 Spinocerebellar ataxia 28 (2) |SCA28|610246|18p11.22-q11.2 Spinocerebellar ataxia 29 (2) |SCA29, CLA4|117360|3p26 Spinocerebellar ataxia 4, pure Japanese type, 117210 (3) |PLEKHG4|609526|16q22.1 Spinocerebellar ataxia 8, 608768 (3) |SCA8|603680|13q21 Spinocerebellar ataxia with epilepsy, 607459 (3) |POLG, POLG1, POLGA, PEO, SANDO, SCAE|174763|15q25 Spinocerebellar ataxia, X-linked 1 (2) |SCAX1, CLA2, OPCA|302500|Xp11.21-q21.3 Spinocerebellar ataxia, X-linked 5 (2) |SCAX5|300703|Xq25-q27.1 Spinocerebellar ataxia, autosomal recessive 2 (2) |SCAR2, CPD3|213200|9q34-qter Spinocerebellar ataxia, autosomal recessive 3 (2) |SCAR3, SCABD|271250|6p23-p21 Spinocerebellar ataxia, autosomal recessive 4 (2) |SCAR4, SCASI|607317|1p36 Spinocerebellar ataxia, autosomal recessive 5 (2) |SCAR5, CAMOS|606937|15q24-q26 Spinocerebellar ataxia, autosomal recessive 6 (2) |SCAR6|608029|20q11-q13 Spinocerebellar ataxia, autosomal recessive 7 (2) |SCAR7|609270|11p15 Spinocerebellar ataxia, autosomal recessive 8, 610743 (3) |SYNE1, KIAA0796, KIAA1756, KIAA1262, SCAR8|608441|6q25 Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, 607250 (3) |TDP1|607198|14q31-q32 Spinocerebellar ataxia, infantile-onset, 271245 (3) |C10orf2, TWINKLE, PEO1, PEOA3, SANDO, IOSCA|606075|10q24 Spinocerebellar ataxia, infantile-onset, with sensory neuropathy (2) |IOSCA, SCA8|271245|10q24 Spinocerebellar ataxia-1, 164400 (3) |ATXN1, ATX1, SCA1|601556|6p23 Spinocerebellar ataxia-10, 603516 (3) |ATXN10, SCA10|611150|22q13 Spinocerebellar ataxia-11, 604432 (3) |TTBK2, SCA11|611695|15q15.2 Spinocerebellar ataxia-13, 605259 (3) |KCNC3, SCA13|176264|19q13.3-q13.4 Spinocerebellar ataxia-2, 183090 (3) |ATXN2, ATX2, SCA2|601517|12q24 Spinocerebellar ataxia-27, 609307 (3) |FGF14, FHF4, SCA27|601515|13q34 Spinocerebellar ataxia-4 (2) |SCA4|600223|16q22.1 Spinocerebellar ataxia-5, 600224 (3) |SPTBN2, SCA5|604985|11q13 Spinocerebellar ataxia-6, 183086 (3) |CACNA1A, CACNL1A4, SCA6|601011|19p13 Spinocerebellar ataxia-7, 164500 (3) |ATXN7, SCA7, OPCA3|607640|3p21.1-p12 Split hand/foot malformation type 1 with deafness (2) |SHFM1D|220600|7q21.2-q21.3 Split hand/foot malformation, type 1 (2) |SHFM1, SHFD1, SHSF1|183600|7q21.2-q21.3 Split hand/foot malformation, type 2 (2) |SHFM2, SHFD2|313350|Xq26 Split-hand/foot malformation 3 (2) |SHFM3, SHSF3|600095|10q24 Split-hand/foot malformation 5, 183600 (2) |SHFM5|606708|2q31 Split-hand/foot malformation with long bone deficiency 1 (2) |SHFL1, SHFLD|119100|1q42.2-q43 Split-hand/foot malformation with long deficiency 2 (2) |SHFLD2|610685|6q14.1 Split-hand/foot malformation, type 4, 605289 (3) |TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS, OFC8|603273|3q27 Spondyloarthropathy, susceptiblity to, 2 (2) |SPDA2|183840|9q31-q34 Spondylocarpotarsal synostosis syndrome, 272460 (3) |FLNB, SCT, AOI, LRS1|603381|3p14.3 Spondylocostal dysostosis, autosomal recessive 2, 608681 (3) |MESP2, SCDO2|605195|15q26.1 Spondylocostal dysostosis, autosomal recessive 3, 609813 (3) |LFNG, SCDO3|602576|7p22 Spondylocostal dysostosis, autosomal recessive, 1, 277300 (3) |DLL3, SCDO1|602768|19q13 Spondyloepimetaphyseal dysplasia, 608728 (3) |MATN3, EDM5, HOA|602109|2p24-p23 Spondyloepimetaphyseal dysplasia, Missouri type, 602111 (3) |MMP13, CLG3|600108|11q22.3 Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3) |WISP3, PPAC, PPD|603400|6q22-q23 Spondyloepiphyseal dysplasia tarda, 313400 (3) |TRAPPC2, SEDL, SEDT|300202|Xp22.2-p22.1 Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3) |AGC1, CSPG1, MSK16, SEDK|155760|15q26.1 Spondyloepiphyseal dysplasia, Omani type, 608637 (3) |CHST3, C6ST, C6ST1|603799|10q22.1 Spondylometaphyseal dysplasia, Japanese type (3) |COL10A1|120110|6q21-q22.3 Spondyloperipheral dysplasia, 271700 (3) |COL2A1|120140|12q13.11-q13.2 Squamous cell carcinoma, burn scar-related, somatic (3) |TNFRSF6, APT1, FAS, CD95, ALPS1A|134637|10q24.1 Squamous cell carcinoma, head and neck, 275355 (3) |ING1|601566|13q34 Squamous cell carcinoma, head and neck, 275355 (3) |TNFRSF10B, DR5, TRAILR2|603612|8p22-p21 Stapes ankylosis syndrome without symphalangism, 184460 (3) |NOG, SYM1, SYNS1|602991|17q22 Stargardt disease 3, 600110 (3) |ELOVL4, ADMD, STGD2, STGD3|605512|6q14 Stargardt disease 4 (2) |STGD4|603786|4p Stargardt disease-1, 248200 (3) |ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2|601691|1p21-p13 Startle disease, autosomal recessive (3) |GLRA1, STHE|138491|5q32 Startle disease/hyperekplexia, autosomal dominant, 149400 (3) |GLRA1, STHE|138491|5q32 Stature QTL 1 (2) |STQTL1|606255|6q24-q25 Stature QTL 2 (2) |STQTL2|606256|7q31.3 Stature QTL 3 (2) |STQTL3|606257|12p11.2-q14 Stature QTL 4 (2) |STQTL4|606258|13q32-q33 Stature QTL 5 (2) |STQTL5|608982|3p26 Stature QTL 6 (2) |STQTL6|300591|Xq24-q25 Stature QTL 7 (2) |STQTL7|609822|1p21 Stature QTL 8 (2) |STQTL8|610114|9q22 Steatocystoma multiplex, 184500 (3) |KRT17, PC2, PCHC1|148069|17q12-q21 Stem-cell leukemia/lymphoma syndrome (3) |ZNF198, SCLL, RAMP, FIM|602221|13q11-q12 Stickler syndrome, type I, 108300 (3) |COL2A1|120140|12q13.11-q13.2 Stickler syndrome, type II, 604841 (3) |COL11A1, STL2|120280|1p21 Stickler syndrome, type III, 184840 (3) |COL11A2, STL3, DFNA13|120290|6p21.3 Stocco dos Santos X-linked mental retardation syndrome, 300434 (3) |SHROOM4, KIAA1202, SDSX|300579|Xp11.2 Stomach cancer, 137215 (3) |KRAS2, RASK2, NS3|190070|12p12.1 Stomatocytosis I, 185000 (1) (?) |EPB72|133090|9q34.1 Striatal degeneration, autosomal dominant (2) |ADSD|609161|5q13.3-q14.1 Striatonigral degeneration, infantile, 271930 (3) |NUP62, SNDI, IBSN|605815|19q13.33 Stuttering, familial persistent 1 (2) |STUT1|184450|18p11.3-p11.2 Stuttering, familial persistent 2 (2) |STUT2|609261|12q24.1 Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3) |LIFR, STWS, SWS, SJS2|151443|5p13.1 Subcortical laminal heteropia, X-linked, 300067 (3) |DCX, DBCN, LISX|300121|Xq22.3-q23 Subcortical laminar heterotopia (3) |PAFAH1B1, LIS1|601545|17p13.3 Succinic semialdehyde dehydrogenase deficiency, 271980 (3) |ALDH5A1, SSADH|610045|6p22 Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3) |OXCT1, OXCT, SCOT|601424|5p13 Sucrase-isomaltase deficiency, congenital, 222900 (3) |SI|609845|3q25-q26 Sudden infant death with dysgenesis of the testes syndrome, 608800 (3) |TSPYL1, TSPYL, SIDDT|604714|6q22-q23 Sulfite oxidase deficiency, 272300 (3) |SUOX|606887|Chr.12 Supranuclear palsy, progressive atypical, 260540 (3) |MAPT, MTBT1, DDPAC, MSTD|157140|17q21.1 Supranuclear palsy, progressive, 2 (2) |PSNP2|609454|1q31.1 Supranuclear palsy, progressive, 3 (2) |PSNP3|610898|11p12-p11 Supranuclear palsy, progressive, 601104 (3) |MAPT, MTBT1, DDPAC, MSTD|157140|17q21.1 Supravalvar aortic stenosis, 185500 (3) |ELN|130160|7q11.2 Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3) |SFTPB, SFTB3, SMDP1|178640|2p12-p11.2 Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3) |SFTPC, SFTP2, SMDP2|178620|8p21 Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3) |ABCA3, ABC3, SMDP3|601615|16p13.3 Sveinsson choreoretinal atrophy, 108985 (3) |TEAD1, TCF13, REF1|189967|11p15.2 Sweat chloride elevation without CF (3) |CFTR, ABCC7, CF, MRP7|602421|7q31.2 Symphalangism, proximal, 185800 (3) |GDF5, CDMP1, SYNS2|601146|20q11.2 Symphalangism, proximal, 185800 (3) |NOG, SYM1, SYNS1|602991|17q22 Syndactyly, type 1 (2) |SDTY1, SD1|185900|2q34-q36 Syndactyly, type III, 186100 (3) |GJA1, CX43, ODDD, SDTY3, ODOD|121014|6q21-q23.2 Syndactyly, type V, 186300 (3) |HOXD13, HOX4I, SPD, BDSD|142989|2q31-q32 Synostoses syndrome, multiple, 1, 186500 (3) |NOG, SYM1, SYNS1|602991|17q22 Synpolydactyly 3 (2) |SPD3|610234|14q11.2-q12 Synpolydactyly with foot anomalies, 186000 (3) |HOXD13, HOX4I, SPD, BDSD|142989|2q31-q32 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (3) |FBLN1|135820|22q13.3 Synpolydactyly, type II, 186000 (3) |HOXD13, HOX4I, SPD, BDSD|142989|2q31-q32 T-cell acute lymphoblastic leukemia (3) |BAX|600040|19q13.3-q13.4 T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3) |FOXN1, WHN|600838|17q11-q12 T-cell prolymphocytic leukemia, sporadic (3) |ATM, ATA, AT1|607585|11q22.3 TARP syndrome (2) |TARPS|311900|Xp11.23-q13.3 Tangier disease, 205400 (3) |ABCA1, ABC1, HDLDT1, TGD|600046|9q22-q31 Tarsal-carpal coalition syndrome, 186570 (3) |NOG, SYM1, SYNS1|602991|17q22 Tauopathy and respiratory failure (3) |MAPT, MTBT1, DDPAC, MSTD|157140|17q21.1 Tay-Sachs disease, 272800 (3) |HEXA, TSD|606869|15q23-q24 Taybi-Linder syndrome (2) |MOPD1, TALS|210710|2q14.2-q14.3 Telangiectasia, hereditary hemorrhagic, type 4 (2) |HHT4|610655|7p14 Temperature-sensitive apoptosis, cellular (3) |DAD1|600243|14q11-q12 Testicular germ cell tumor (2) |TGCT1|300228|Xq27 Testicular microlithiasis, 610441 (3) (?) |SLC34A2|604217|4p15.31-p15.2 Testicular tumor, sporadic, 273300 (3) |STK11, PJS, LKB1|602216|19p13.3 Tetra-amelia, autosomal recessive, 273395 (3) |WNT3, INT4|165330|17q21 Tetralogy of Fallot, 187500 (3) |GDF1|602880|19p12 Tetralogy of Fallot, 187500 (3) |JAG1, AGS, AHD|601920|20p12 Tetralogy of Fallot, 187500 (3) |ZFPM2, FOG2, DIH3|603693|8q23 Tetramelic mirror-image polydactyly (2) (?) |TMIP|135750|14q13 Tetrology of Fallot, 187500 (3) |NKX2E, CSX|600584|5q34 Thalassemia due to Hb Lepore (3) |HBD|142000|11p15.5 Thalassemia, Hispanic gamma-delta-beta (3) |LCRB|152424|11p15.5 Thalassemia, alpha- (3) |HBA2|141850|16pter-p13.3 Thalassemia, delta- (3) |HBD|142000|11p15.5 Thalassemia-beta, dominant inclusion-body, 603902 (3) |HBB|141900|11p15.5 Thalassemias, alpha- (3) |HBA1|141800|16pter-p13.3 Thalassemias, beta- (3) |HBB|141900|11p15.5 Thanatophoric dysplasia, types I and II, 187600 (3) |FGFR3, ACH|134934|4p16.3 Thiamine-responsive megaloblastic anemia syndrome, 249270 (3) |SLC19A2, THTR1|603941|1q23.3 Thoracoabdominal syndrome (2) |THAS, TAS|313850|Xq25-q26.1 Thrombocythemia, essential, 187950 (3) |JAK2|147796|9p24 Thrombocythemia, essential, 187950 (3) |MPL, TPOR, MPLV|159530|1p34 Thrombocythemia, essential, 187950 (3) |THPO, MGDF, MPLLG, TPO|600044|3q26.3-q27 Thrombocytopenia, Paris-Trousseau type (2) (?) |TCPT|188025|11q23 Thrombocytopenia, X-linked, 313900 (3) |WAS, IMD2, THC|300392|Xp11.23-p11.22 Thrombocytopenia, X-linked, intermittent, 313900 (3) |WAS, IMD2, THC|300392|Xp11.23-p11.22 Thrombocytopenia, congenital amegakaryocytic, 604498 (3) |MPL, TPOR, MPLV|159530|1p34 Thrombocytopenia, neonatal alloimmune (1) |ITGA2B, GP2B, CD41B|607759|17q21.32 Thrombocytopenia-2, 188000 (3) |FLJ14813, THC2|608221|10p12.1 Thrombocytopenia-absent radius syndrome (2) |TAR|274000|1q21.1 Thrombocytosis, familial X-linked (2) |FTX|300331|Chr.X Thrombophilia due to HRG deficiency (3) |HRG|142640|3q27 Thrombophilia due to elevated HRG (1) (?) |HRG|142640|3q27 Thrombophilia due to excessive plasminogen activator inhibitor (1) |PAI1, PLANH1, SERPINE1|173360|7q21.3-q22 Thrombophilia due to heparin cofactor II deficiency (3) |HCF2, HC2, SERPIND1|142360|22q11 Thrombophilia due to protein C deficiency (3) |PROC|176860|2q13-q14 Thrombophilia due to thrombomodulin defect (3) |THBD, THRM|188040|20p11.2 Thrombophilia, dysfibrinogenemic (3) |FGB|134830|4q28 Thrombophilia, dysfibrinogenemic (3) |FGG|134850|4q28 Thrombophilia, dysplasminogenemic (1) |PLG|173350|6q26 Thrombosis, hyperhomocysteinemic (3) |CBS|236200|21q22.3 Thrombotic thrombocytopenic purpura, familial, 274150 (3) |ADAMTS13, VWFCP, TTP|604134|9q34 Thromboxane synthase deficiency (2) |TBXAS1, GHOSAL, CYP5|274180|7q34 Thymine-uraciluria (3) |DPYD, DPD|274270|1p22 Thyroid adenoma, hyperfunctioning, somatic (3) |TSHR|603372|14q31 Thyroid carcinoma (3) |TP53, P53, LFS1|191170|17p13.1 Thyroid carcinoma with thyrotoxicosis (3) |TSHR|603372|14q31 Thyroid carcinoma, follicular, 188470 (3) |MINPP1, HIPER1|605391|10q23 Thyroid carcinoma, follicular, 188470 (3) |NRAS, ALPS4|164790|1p13.2 Thyroid carcinoma, follicular, 188470 (3) |PTEN, MMAC1|601728|10q23.31 Thyroid carcinoma, nonmedullary, 1 (2) |NMTC1|606240|2q21 Thyroid carcinoma, nonmedullary, with cell oxyphilia (2) |TCO|603386|19p13.2 Thyroid carcinoma, papillary, 188550 (3) |GOLGA5, RFG5, PTC5|606918|14q Thyroid carcinoma, papillary, 188550 (3) |NCOA4, ELE1, PTC3|601984|10q11.2 Thyroid carcinoma, papillary, 188550 (3) |PCM1, PTC4|600299|8p22-p21.3 Thyroid carcinoma, papillary, 188550 (3) |PRKAR1A, TSE1, CNC1, CAR, PPNAD1|188830|17q23-q24 Thyroid carcinoma, papillary, 188550 (3) |TRIM24, TIF1, TIF1A, PTC6|603406|7q32-q34 Thyroid carcinoma, papillary, 188550 (3) |TRIM33, TIF1G, RFG7, PTC7|605769|1p13 Thyroid carcinoma, papillary, with papillary renal neoplasia (2) |PTCPRN, PRN1|605642|1q21 Thyroid hormone metabolism, abnormal, 609698 (3) |SECISBP2, SBP2|607693|9q22.2 Thyroid hormone organification defect IIA, 274500 (3) |TPO, TPX|606765|2p25 Thyroid hormone resistance, 188570 (3) |THRB, ERBA2, THR1|190160|3p24.3 Thyroid hormone resistance, autosomal recessive, 274300 (3) |THRB, ERBA2, THR1|190160|3p24.3 Thyroid papillary carcinoma, 188550 (1) |CCDC6, D10S170, H4, TST1, PTC, TPC|601985|10q21 Thyrotropin-releasing hormone deficiency (1) |TRH|275120|3q13.3-q21 Thyrotropin-releasing hormone resistance, generalized (3) |TRHR|188545|8q23 Thyroxine-binding globulin deficiency (3) |TBG|314200|Xq22.2 Tibial hemimelia (2) (?) |THM|275220|8q24.1 Tibial muscular dystrophy, tardive, 600334 (3) |TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC|188840|2q31 Tietz syndrome, 103500 (3) |MITF, WS2A|156845|3p14.1-p12.3 Timothy syndrome, 601005 (3) |CACNA1C, CACNL1A1, CCHL1A1, TS|114205|12p13.3 Tn syndrome, 300622 (3) |C1GALT1C1, COSMC, C1GALT2|300611|Xq23 Toenail dystrophy, isolated, 607523 (3) |COL7A1|120120|3p21.3 Tolbutamide poor metabolizer (3) |CYP2C9|601130|10q24 Torsades de pointes, drug-associated (3) |KCNQ1, KCNA9, LQT1, KVLQT1, ATFB1, SQT2|607542|11p15.5 Total anomalous pulmonary venous return (2) |TAPVR1|106700|4q12 Total iodide organification defect, 274500 (3) |TPO, TPX|606765|2p25 Tourette syndrome (2) |GTS|137580|11q23 Tourette syndrome, 137580 (3) |SLITRK1, KIAA1910|609678|13q31 Townes-Brocks branchiootorenal-like syndrome, 107480 (3) |SALL1, HSAL1, TBS|602218|16q12.1 Townes-Brocks syndrome, 107480 (3) |SALL1, HSAL1, TBS|602218|16q12.1 Transaldolase deficiency, 606003 (3) |TALDO1|602063|11p15.5-p15.4 Transcobalamin II deficiency (3) |TCN2, TC2|275350|22q11.2-qter Transient bullous of the newborn, 131705 (3) |COL7A1|120120|3p21.3 Transient erythroblastopenia of childhood (2) |TEC|227050|19q13.2 Transposition of great arteries, dextro-looped 3 (3) |GDF1|602880|19p12 Transposition of the great arteries, dextro-looped 1, 608808 (3) |THRAP2, PROSIT240, TRAP240L, KIAA1025|608771|12q24 Transposition of the great arteries, dextro-looped 2 (3) |CFC1, CRYPTIC, HTX2|605194|2q21.1 Treacher Collins mandibulofacial dysostosis, 154500 (3) |TCOF1, MFD1|606847|5q32-q33.1 Trehalase deficiency (1) |TREH|275360|11q23 Tremor, hereditary essential, 2 (2) |ETM2, ETM|602134|2p25-p22 Trichilemmal cyst 1 (2) |TRICY1|609649|3p24-p21.2 Trichodontoosseous syndrome, 190320 (3) |DLX3, TDO, AI4|600525|17q21.3-q22 Trichoepithelioma, multiple familial (2) |MFT, TEM|601606|9p21 Trichorhinophalangeal syndrome, type I, 190350 (3) |TRPS1|604386|8q24.12 Trichorhinophalangeal syndrome, type III, 190351 (3) |TRPS1|604386|8q24.12 Trichothiodystrophy, 601675 (3) |ERCC2, EM9, XPD, COFS2|126340|19q13.2-q13.3 Trichothiodystrophy, 601675 (3) |ERCC3, XPB|133510|2q21 Trichothiodystrophy, complementation group A, 601675 (3) |TGF2H5, TTDA, TFB5, C6orf175|608780|6p25.3 Trichothiodystrophy, nonphotosensitive 1, 234050 (3) |TTDN1, C7orf11, ABHS|609188|7p14 Trifunctional protein deficiency, 609015 (3) |HADHA, MTPA|600890|2p23 Trifunctional protein deficiency, 609015 (3) |HADHB|143450|2p23 Triphalangeal thumb, type I, 174500 (3) |LMBR1, ACHP, C7orf2, PPD2|605522|7q36 Triphalangeal thumb-polysyndactyly syndrome, 174500 (3) |LMBR1, ACHP, C7orf2, PPD2|605522|7q36 Trismus-pseudocamptodactyly syndrome, 158300 (3) |MYH8|160741|17p13.1 Tropical calcific pancreatitis, 608189 (3) |SPINK1, PSTI, PCTT, TATI|167790|5q32 Troyer syndrome, 275900 (3) |SPG20|607111|13q12.3 Trypsinogen deficiency (1) |PRSS1, TRY1|276000|7q35 Tuberous sclerosis-1, 191100 (3) |TSC1, LAM|605284|9q34 Tuberous sclerosis-2, 191100 (3) |TSC2, LAM|191092|16p13.3 Tukel syndrome (2) |TUKLS|609428|21q22 Tumoral calcinosis, familial, normophosphatemic, 610455 (3) |SAMD9, NFTC|610456|7q21 Tumoral calcinosis, hyperphosphatemic, 211900 (3) |KL|604824|13q12 Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3) |FGF23, ADHR, HPDR2, PHPTC|605380|12p13.3 Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3) |GALNT3, HHS, HFTC|601756|2q24-q31 Turner syndrome-associated neurocognitive phenotype (2) |VSPA|313000|Xp22.33 Tylosis with esophageal cancer (2) |TOC, TEC|148500|17q25 Tyrosinemia, type I (3) |FAH|276700|15q23-q25 Tyrosinemia, type II (3) |TAT|276600|16q22.1-q22.3 Tyrosinemia, type III, 276710 (3) |HPD|609695|12q24-qter Tyrosinemia, type Ib (1) |GSTZ1, MAAI|603758|14q24.3 Ullrich congenital muscular dystrophy, 254090 (3) |COL6A1, OPLL|120220|21q22.3 Ullrich congenital muscular dystrophy, 254090 (3) |COL6A2|120240|21q22.3 Ullrich congenital muscular dystrophy, 254090 (3) |COL6A3|120250|2q37 Ulna and fibula, absence of, with sever limb deficiency, 276820 (3) |WNT7A|601570|3p25 Ulnar-mammary syndrome, 181450 (3) |TBX3|601621|12q24.1 Unna-Thost disease, nonepidermolytic, 600962 (3) |KRT1|139350|12q13 Urofacial syndrome (2) |UFS|236730|10q23-q24 Urolithiasis, 2,8-dihydroxyadenine (3) |APRT|102600|16q24.3 Urolithiasis, hypophosphatemic (3) |SLC34A1, SLC17A2, NPT2|182309|5q35 Usher syndrome, type 1B, 276900 (3) |MYO7A, USH1B, DFNB2, DFNA11|276903|11q13.5 Usher syndrome, type 1C, 276904 (3) |USH1C, DFNB18|605242|11p15.1 Usher syndrome, type 1D, 601067 (3) |CDH23, USH1D|605516|10q21-q22 Usher syndrome, type 1D/F digenic, 601067 (3) |CDH23, USH1D|605516|10q21-q22 Usher syndrome, type 1D/F digenic, 601067 (3) |PCDH15, DFNB23, USH1F|605514|10q21-q22 Usher syndrome, type 1E (2) |USH1E|602097|21q21 Usher syndrome, type 1F, 602083 (3) |PCDH15, DFNB23, USH1F|605514|10q21-q22 Usher syndrome, type 1G, 606943 (3) |SANS, USH1G|607696|17q24-q25 Usher syndrome, type 2A, 276901 (3) |USH2A, RP39|608400|1q41 Usher syndrome, type 3, 276902 (3) |USH3A, USH3|606397|3q21-q25 Usher syndrome, type IIB (2) |USH2B|276905|3p24.2-p23 Usher syndrome, type IIC, 605472 (3) |MASS1, VLGR1, KIAA0686, FEB4, USH2C|602851|5q14 Usher syndrome, type IID, 611383 (3) |WHRN, CIP98, KIAA1526, DFNB31, USH2D|607928|9q32-q34 Uterine leiomyoma (3) |HMGA2, HMGIC, BABL, LIPO, STQTL9|600698|12q14.3 VACTERL association with hydrocephalus, X-linked, 314390 (3) |FAAP95, FAAP90, FLJ34064, FANCB|300515|Xp22.31 VATER association with hydrocephalus, 276950 (3) |PTEN, MMAC1|601728|10q23.31 VLCAD deficiency, 201475 (3) |ACADVL, VLCAD|609575|17p13 Van Buchem disease, 239100 (3) |SOST, VBCH|605740|17q12-q21 Vasculopathy, retinal, with cerebral leukodystrophy, 192315 (3) |TREX1, AGS1, AGS5, CRV, HERNS|606609|3p21.3-p21.2 Velocardiofacial syndrome, 192430 (3) |TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR|602054|22q11.2 Venous malformations, multiple cutaneous and mucosal, 600195 (3) |TEK, TIE2, VMCM|600221|9p21 Ventricular fibrillation, idiopathic, 603829 (3) |SCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2|600163|3p21 Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3) |RYR2, VTSIP, ARVD2, ARVC2|180902|1q42.1-q43 Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3) |CASQ2|114251|1p13.3-p11 Ventricular tachycardia, idiopathic, 192605 (3) |GNAI2, GNAI2B, GIP|139360|3p21 Vertical talus, congenital, 192950 (3) |HOXD10, HOX4D|142984|2q31-q32 Vesicoureteral reflux (2) |VUR|193000|1p13 Vesicoureteral reflux 2, 610878 (3) |ROBO2, SAX3, KIAA1568|602431|3p12.3 Vestibulopathy, familial (2) |BPPV|193007|6q Vitamin D-dependent rickets, type I, 264700 (3) |CYP27B1, VDD1, PDDR|609506|12q13.1-q13.3 Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3) |VKORC1, VKOR, VKCFD2, FLJ00289|608547|16p11.2 Vitamin K-dependent coagulation defect, 277450 (3) |GGCX|137167|2p12 Vitelliform macular dystrophy, adult-onset, 608161 (3) |BEST1, VMD2, ARB|607854|11q13 Vitreoretinopathy with phalangeal epiphyseal dysplasia ( |COL2A1|120140|12q13.11-q13.2 Vitreoretinopathy, neovascular inflammatory (2) |VRNI|193235|11q13 Vohwinkel syndrome with ichthyosis, 604117 (3) |LOR|152445|1q21 Vohwinkel syndrome, 124500 (3) |GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID|121011|13q11-q12 WAGR syndrome, 194072 (3) |WT1|607102|11p13 WHIM syndrome, 193670 (3) |CXCR4, D2S201E, NPY3R, WHIM|162643|2q21 Waardenburg syndrome, type 2B (2) |WS2B|600193|1p21-p13.3 Waardenburg syndrome, type I, 193500 (3) |PAX3, WS1, HUP2, CDHS|606597|2q35 Waardenburg syndrome, type IIA, 193510 (3) |MITF, WS2A|156845|3p14.1-p12.3 Waardenburg syndrome, type IIC (2) |WS2C|606662|8p23 Waardenburg syndrome, type IID, 608890 (3) |SNAI2, SLUG, WS2D|602150|8q11 Waardenburg syndrome, type IIE, 611584 (3) |SOX10, WS4, WS2E|602229|22q13 Waardenburg syndrome, type III, 148820 (3) |PAX3, WS1, HUP2, CDHS|606597|2q35 Waardenburg syndrome/albinism, digenic, 103470 (3) |TYR, SHEP3|606933|11q14-q21 Waardenburg syndrome/ocular albinism, digenic, 103470 (3) |MITF, WS2A|156845|3p14.1-p12.3 Waardenburg-Shah syndrome, 277580 (3) |EDNRB, HSCR2, ABCDS|131244|13q22 Waardenburg-Shah syndrome, 277580 (3) |SOX10, WS4, WS2E|602229|22q13 Wagner syndrome 1, 143200 (3) |CSPG2, WGN, WGN1, ERVR|118661|5q12-q14 Waisman parkinsonism-mental retardation syndrome (2) |WSN, BGMR|311510|Xq28 Walker-Warburg syndrome, 236670 (3) |FKRP, MDC1C, LGMD2I|606596|19q13.3 Walker-Warburg syndrome, 236670 (3) |FKTN, FCMD, CMD1X, LGMD2M|607440|9q31 Walker-Warburg syndrome, 236670 (3) |LARGE, KIAA0609, MDC1D|603590|22q12.3-q13.1 Walker-Warburg syndrome, 236670 (3) |POMT1|607423|9q34.1 Walker-Warburg syndrome, 236670 (3) |POMT2|607439|14q24.3 Warburg micro syndrome 1, 600118 (3) |RAB3GAP1, WARBM1, P130|602536|2q21.3 Warfarin resistance, 122700 (3) |VKORC1, VKOR, VKCFD2, FLJ00289|608547|16p11.2 Warfarin sensitivity (3) |F9, HEMB|306900|Xq27.1-q27.2 Warfarin sensitivity, 122700 (3) |CYP2C9|601130|10q24 Watson syndrome, 193520 (3) |NF1, VRNF, WSS, NFNS|162200|17q11.2 We |LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B|150330|1q21.2 Weaver syndrome, 277590 (3) |NSD1, ARA267, STO|606681|5q35 Wegener granulomatosis (2) |WG|608710|6p21.3 Wegener-like granulomatosis (3) |TAP2, ABCB3, PSF2, RING11|170261|6p21.3 Weill-Marchesani syndrome, dominant, 608328 (3) |FBN1, MFS1, WMS|134797|15q21.1 Weill-Marchesani syndrome, recessive, 277600 (3) |ADAMTS10, WMS|608990|19p13.3-p13.2 Weissenbacher-Zweymuller syndrome, 277610 (3) |COL11A2, STL3, DFNA13|120290|6p21.3 Welander distal myopathy (2) |WDM|604454|2p13 Werner syndrome, 277700 (3) |RECQL2, RECQ3, WRN|604611|8p12-p11.2 Weyers acrodental dysostosis, 193530 (3) |EVC|604831|4p16 White sponge nevus, 193900 (3) |KRT13|148065|17q21-q22 White sponge nevus, 193900 (3) |KRT4, CYK4|123940|12q13 Wieacker-Wolff syndrome (2) |WWS|314580|Xq13-q21 Williams-Beuren syndrome, 194050 (3) |GTF2I, BAP135, WBS|601679|7q11.23 Williams-Beuren syndrome, 194050 (3) |GTF2IRD1, GTF3, MUSTRD1, WBS|604318|7q11.23 Wilms tumor, 194070 (3) |BRCA2, FANCD1|600185|13q12.3 Wilms tumor, somatic, 194070 (3) |GPC3, SDYS, SGBS1|300037|Xq26 Wilms tumor, type 1, 194070 (3) |WT1|607102|11p13 Wilms tumor, type 2 (2) |MTACR1, WT2|194071|11p15.5 Wilms tumor, type 3 (2) |WT3|194090|16q Wilms tumor, type 4 (2) |WT4|601363|17q12-q21 Wilson disease, 277900 (3) |ATP7B, WND|606882|13q14.3-q21.1 Winchester syndrome, 277950 (2) |MMP2, CLG4A, MONA|120360|16q13 Wiskott-Aldrich syndrome, 301000 (3) |WAS, IMD2, THC|300392|Xp11.23-p11.22 Witkop syndrome, 189500 (3) |MSX1, HOX7, HYD1, OFC5|142983|4p16.1 Wolcott-Rallison syndrome, 226980 (3) |EIF2AK3, PEK, PERK, WRS|604032|2p12 Wolf-Hirschhorn syndrome (2) |WHSC1, WHS|602952|4p16.3 Wolff-Parkinson-White syndrome, 194200 (3) |PRKAG2, WPWS, CMH6|602743|7q36 Wolfram syndrome 2, 604928 (3) |CISD2, WFS2, ZCD2, ERIS|611507|4q22-q24 Wolfram syndrome, 222300 (3) |WFS1, WFRS, WFS, DFNA6|606201|4p16.1 Wolfram-like syndrome, autosomal dominant, 222300 (3) |WFS1, WFRS, WFS, DFNA6|606201|4p16.1 Wolman disease (3) |LIPA|278000|10q24-q25 Wood neuroimmunologic syndrome (2) |INDX|300076|Xq26-qter Woolly hair, autosomal recessive, 278150 (3) |P2RY5, P2Y5, LAH3|609239|13q14.12-q14.2 Wrinkly skin syndrome, 278250 (3) |ATP6V0A2, WSS, ARCL|611716|12q24.3 X inactivation, familial skewed, 2 (2) |SXI2|300179|Xq25-q26 X-inactivation, familial skewed, 300087 (3) |XIC, XCE, XIST, SXI1|314670|Xq13.2 XFE progeroid syndrome, 610965 (3) |ERCC4, XPF|133520|16p13.3-p13.13 XLA and isolated growth hormone deficiency, 307200 (3) |BTK, AGMX1, IMD1, XLA, AT|300300|Xq21.3-q22 XY sex reversal (1) |DMRT1, DMT1|602424|9p24.3 XY sex reversal (2) |SRA2, TDFA|154230|9p24 Xanthinuria, type I, 278300 (3) |XDH|607633|2p23-p22 Xeroderma pigmentosum (1) (?) |PARP1, ADPRT, PPOL, PARP|173870|1q42 Xeroderma pigmentosum, group A, 278700 (3) |XPA, XPAC|611153|9q22.3 Xeroderma pigmentosum, group B, 610651 (3) |ERCC3, XPB|133510|2q21 Xeroderma pigmentosum, group C (3) |XPC, XPCC|278720|3p25 Xeroderma pigmentosum, group D, 278730 (3) |ERCC2, EM9, XPD, COFS2|126340|19q13.2-q13.3 Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3) |DDB2|600811|11p12-p11 Xeroderma pigmentosum, group E, subtype 2 (1) |DDB1|600045|11q12-q13 Xeroderma pigmentosum, group F, 278760 (3) |ERCC4, XPF|133520|16p13.3-p13.13 Xeroderma pigmentosum, group G, 278780 (3) |ERCC5, XPG, COFS3|133530|13q33 Xeroderma pigmentosum, variant type, 278750 (3) |POLH, XPV|603968|6p21.1-p12 Xp11.3 deletion syndrome, 300578 (3) |RP2|312600|Xp11.3 Yellow nail syndrome, 153300 (3) |FOXC2, FKHL14, MFH1|602402|16q24.3 Yemenite deaf-blind hypopigmentation syndrome, 601706 (3) |SOX10, WS4, WS2E|602229|22q13 Zellweger syndrome, 214100 (3) |PEX10, NALD|602859|Chr.1 Zellweger syndrome, 214100 (3) |PEX13, ZWS, NALD|601789|2p15 Zellweger syndrome, 214100 (3) |PEX14|601791|1p36.2 Zellweger syndrome, 214100 (3) |PEX26|608666|22q11.21 Zellweger syndrome, 214100 (3) |PEX5, PXR1, PTS1R|600414|12p13.3 Zellweger syndrome, 214100 (3) |PXF, HK33, D1S2223E, PEX19|600279|1q22 Zellweger syndrome, complementation group 9 (3) |PEX16|603360|11p12-p11.2 Zellweger syndrome, complementation group G, 214100 (3) |PEX3|603164|6q23-q24 Zellweger syndrome-1, 214100 (3) |PEX1, ZWS1|602136|7q21-q22 Zellweger syndrome-2 (3) |ABCD3, PXMP1, PMP70|170995|1p22-p21 Zellweger syndrome-3 (3) |PXMP3, PAF1, PMP35, PEX2|170993|8q21.1 Zimmermann-Laband syndrome (2) (?) |ZLS|135500|3p14.3 Zlotogora-Ogur syndrome, 225000 (3) |HVEC, PVRL1, PVRR1, PRR1, ED4, OFC7|600644|11q23-q24 Zygodactyly 1 (2) |ZD1|609815|3p21.31 [?Homosexuality, male] (2) |HMS1, GAY1|306995|Xq28 [?Hyperproglucagonemia] (1) |GCG|138030|2q36-q37 [AFP deficiency, congenital] (1) |AFP, HPAFP|104150|4q11-q13 [AMP deaminase deficiency, erythrocytic] (3) |AMPD3|102772|11pter-p13 [Abdominal body fat distribution, modifier of], 609830 (3) |POMC|176830|2p23.3 [Abdominal body fat distribution, modifier of], 609830 (3) |PTPN1, PTP1B|176885|20q13.1-q13.2 [Alpha-actinin-3 deficiency] (3) |ACTN3|102574|11q13-q14 [Analgesia from kappa-opioid receptor agonist, female-specific], (3) |MC1R, SHEP2|155555|16q24.3 [Angiotensin I-converting enzyme, benign serum increase] (3) |ACE, DCP1, ACE1|106180|17q23 [Anhaptoglobinemia] (3) |HP|140100|16q22.1 [Apolipoprotein H deficiency] (3) |APOH|138700|17q23-qter [Aquaporin-1 deficiency] (3) |AQP1, CHIP28, CO|107776|7p14 [Blood group Cromer] (3) |DAF|125240|1q32 [Blood group GIL], 607457 (3) |AQP3|600170|9p13 [Blood group, ABO system] (3) |ABO|110300|9q34 [Blood group, Auberger system] (3) |LU, AU, BCAM|111200|19q13.2 [Blood group, Cad system] (3) |B4GALGT2, GALGT2, SD|111730|17q21.2 [Blood group, Colton], 110450 (3) |AQP1, CHIP28, CO|107776|7p14 [Blood group, Diego], 110500 (3) |SLC4A1, AE1, EPB3|109270|17q21-q22 [Blood group, Dombrock] (3) |ART4, DO, DOK1|110600|12p13-p12 [Blood group, Duffy system] (3) |FY, GPD, WBCQ1|110700|1q21-q22 [Blood group, Froese], |SLC4A1, AE1, EPB3|109270|17q21-q22 [Blood group, Gerbich] (3) |GYPC, GE, GPC|110750|2q14-q21 [Blood group, Ii], 110800 (3) |GCNT2|600429|6p24-p23 [Blood group, Indian system] (3) |CD44, MDU2, MDU3, MIC4|107269|11pter-p13 [Blood group, John-Milton-Hagen] (3) |SEMA7A, SEMAL, SEMAK1, CDW108, JMH|607961|15q22.2-q23 [Blood group, Kell] (3) |KEL|110900|7q33 [Blood group, Kidd] (3) |SLC14A1, JK, UTE, UT1|111000|18q11-q12 [Blood group, Knops system], 607486 (3) |CR1, C3BR|120620|1q32 [Blood group, Landsteiner-Wiener] (3) |LW|111250|19p13.3 [Blood group, Lewis] (3) |FUT3, LE|111100|19p13.3 [Blood group, Lutheran system] (3) |LU, AU, BCAM|111200|19q13.2 [Blood group, MN] (3) |GYPA, MN, GPA|111300|4q28.2-q31.1 [Blood group, OK], 111380 (3) |BSG|109480|19p13.3 [Blood group, P system], 111400 (3) |A4GALT, PK|607922|22q13.2 [Blood group, P system], 111400 (3) |B3GALT3, GLCT3, P|603094|3q25 [Blood group, Radin], 111620 (3) |ERMAP, SC, RD|609017|1p34 [Blood group, Raph], 179620 (3) |CD151, PETA3, SFA1, MER2|602243|11p15.5 [Blood group, Rhesus] (3) |RHCE|111700|1p36.2-p34 [Blood group, Rodgers] (2) |C4A, C4S|120810|6p21.3 [Blood group, Scianna system], 111750 (3) |ERMAP, SC, RD|609017|1p34 [Blood group, Sd system] (3) |B4GALGT2, GALGT2, SD|111730|17q21.2 [Blood group, Ss] (3) |GYPB, SS, MNS|111740|4q28-q31 [Blood group, Stoltzfus system] (2) |SF|111800|4q28-q31 [Blood group, Waldner], 112010 (3) |SLC4A1, AE1, EPB3|109270|17q21-q22 [Blood group, Wright], 112050 (3) |SLC4A1, AE1, EPB3|109270|17q21-q22 [Blood group, XG system] (3) |XG|314700|Xpter-p22.32 [Blood group, Yt system], 112100 (3) |ACHE, YT|100740|7q22 [Blood pressure regulation QTL], 145500 (2) |ATP1B1|182330|1q22-q25 [Blood pressure regulation QTL], 145500 (2) |RGS5|603276|1q23 [Blood pressure regulation QTL], 145500 (2) |SELE, ELAM1|131210|1q23-q25 [Body mass index in children], 606641 (2) |BMIQ5|608558|16p13 [Body mass index in children], 606641 (2) |BMIQ6|608559|20pter-p11.2 [Body mass index], 606641 (2) |BMIQ1|606642|7q32.3 [Body mass index], 606641 (2) |BMIQ2|606643|13q14 [Body mass index], 606641 (2) |BMIQ3|607446|6q23-q25 [Body mass index], 606641 (2) |BMIQ4|607447|11q24 [Bombay phenotype] (3) |FUT1, H, HH|211100|19q13.3 [Bombay phenotype] (3) |FUT2, SE|182100|19q13.3 [Bone mineral density QTL 2] (2) |BMND2|605833|1q21-q23 [Bone mineral density QTL 3] (2) |BMND3|606928|1p36 [Bone mineral density QTL 4] (2) |BMND4|300536|Xq27 [Bone mineral density QTL 5] (2) |BMND5|609354|11q23 [Bone mineral density QTL 6] (2) |BMND6|609876|21q22.13-qter [Bone mineral density variability 1], 601884 (3) |LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4|603506|11q13.4 [Bone size quantitative trait locus 3] (2) |BSZQTL3|610649|8q24 [C-reactive protein QTL] (2) |CPROTQ|611920|10q23-q24 [CD4+ lymphocyte deficiency] (2) |CD4|186940|12pter-p12 [CETP deficiency], 607322 (3) |CETP, HDLCQ10|118470|16q21 [Chitotriosidase deficiency] (3) |CHIT|600031|1q31-q32 [Cholesterol level QTL 1] (2) |CLQTL1, CLF|604595|13q [Cholesterol level QTL 2] (2) |CLQTL2|610760|2p24-p22 [Cinnamon odor, pleasantness of] (2) |CINN|611109|4q32.3 [Creatine kinase, brain type, ectopic expression of] (2) |CKBE|123270|14q32 [Deafness, nonsyndromic, modifier 1] (2) |DFNM1|605429|1q24 [Dopamine-beta-hydroxylase activity levels, plasma] (3) |DBH|609312|9q34 [Dysalbuminemic hyperthyroxinemia] (3) |ALB|103600|4q11-q13 [Dysalbuminemic hyperzincemia], 194470 (1) |ALB|103600|4q11-q13 [Dystransthyretinemic hyperthyroxinemia](3) |TTR, PALB|176300|18q11.2-q12.1 [Earwax, wet/dry], 117800 (3) |ABCC11, MRP8, EWWD, WW|607040|16q12.1 [Erythrocytosis, familial], 133100 (3) |EPOR|133171|19p13.3-p13.2 [Ezetimibe, nonresponse to] (3) |NPC1L1|608010|7p13 [Fish-odor syndrome], 602079 (3) |FMO3|136132|1q23-q25 [Fructosuria] (3) |KHK|229800|2p23.3-p23.2 [Gamma-glutamyltransferase, familial high serum] (2) |GGT2|137181|22q11.1 [Gilbert syndrome], 143500 (3) |UGT1A1, UGT1, GNT1|191740|2q37 [Glycerol release during exercise, defective] (3) |AQP9|602914|15q22 [Glyoxalase II deficiency] (1) |HAGH, GLO2|138760|16p13 [Handedness] (2) |HSR|139900|2p12-q22 [Hereditary persistence of alpha-fetoprotein] (3) |AFP, HPAFP|104150|4q11-q13 [Hex A pseudodeficiency], 272800 (3) |HEXA, TSD|606869|15q23-q24 [High density lipoprotein cholesterol level QTL 10] (3) |CETP, HDLCQ10|118470|16q21 [High density lipoprotein cholesterol level QTL 11] (3) |LPL, LIPD, HDLCQ11|609708|8p22 [High density lipoprotein cholesterol level QTL 12] (3) |LIPC, HL, LIPH, HDLCQ12|151670|15q21-q23 [High density lipoprotein cholesterol level QTL 1] (2) |HDLCQ1|606613|9p [High density lipoprotein cholesterol level QTL 2] (2) |HDLCQ2|607053|8q23 [High density lipoprotein cholesterol level QTL 4] (2) |HDLCQ4|610239|4q32.3 [High density lipoprotein cholesterol level QTL 5] (2) |HDLCQ5|610761|3q24-q26 [High density lipoprotein cholesterol level QTL 6] (2) |HDLCQ6|610762|12q23-q24 [High density lipoprotein cholesterol level QTL 7] (3) |EDN1, HDLCQ7|131240|6p24-p23 [High density lipoprotein cholesterol level QTL 8] (3) |VNN1, HDLCQ8|603570|6q23-q24 [High density lipoprotein cholesterol level QTL 9] (3) |PLTP, HDLCQ9|172425|20q12-q13.1 [Histidinemia], 235800 (3) |HAL, HSTD|609457|12q22-q23 [Hyperphenylalaninemia, mild] (3) |PAH, PKU1|261600|12q24.1 [Hyperproreninemia] (3) |REN|179820|1q32 [Hypoceruloplasminemia, hereditary], 604290 (3) |CP|117700|3q23-q24 [Hypohaptoglobinemia] (3) |HP|140100|16q22.1 [IgE levels QTL], 147050 (3) |PHF11, NYREN34|607796|13q14.1 [IgE, elevated level of], 147050 (3) |IL21R|605383|16p11 [IgG receptor I, phagocytic, familial deficiency of] (3) |FCGR1A, IGFR1, CD64|146760|1q21.2-q21.3 [Inosine triphosphatase deficiency] (3) |ITPA|147520|20p [Kallikrein, decreased urinary activity of] (3) |KLK1, KLKR|147910|19q13.4 [Kappa light chain deficiency] (3) |IGKC|147200|2p12 [Kininogen deficiency] (3) |KNG|228960|3q27 [LPA deficiency, congenital] (3) |LPA|152200|6q27 [Longevity], 152430 (2) |LGV1|606460|4q25 [Macrothrombocytopenia] (1) |CD36, CHDS7|173510|7q11.2 [Malaria, resistance to], 611162 (3) |SLC4A1, AE1, EPB3|109270|17q21-q22 [Memory, enhanced, association with] (3) |WWC1, KIBRA, KIAA0869|610533|5q34-q35.2 [Neutral endopeptidase deficiency] (1) |MME, CD10, CALLA, NEP|120520|3q21-q27 [Novelty seeking personality], 601696 (1) |DRD4|126452|11p15.5 [Obesity, resistance to] (3) |PPARG, PPARG1, PPARG2|601487|3p25 [Phenylthiocarbamide tasting], 171200 (3) |TAS2R38, T2R61, PTC|607751|7q35-q36 [Placental lactogen deficiency] (1) |CSH1, CSA, PL|150200|17q22-q24 [Respiratory rhythmicity in sleep] (2) |RRIS|609116|10q26 [Response to morphine-6-glucuronide] (3) |OPRM1|600018|6q24-q25 [Resting heart rate], 607276 (3) |ADRB1, ADRB1R, RHR|109630|10q24-q26 [Rh-negative blood type] (3) |RHD|111680|1p36.2-p34 [Sarcosinemia], 268900 (2) |SARDH, SARD, SAR|604455|9q33-q34 [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3) |HERC2, SHEP1|605837|15q11-q13 [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3) |OCA2, P, PED, D15S12, BOCA, EYCL3, HCL3, SHEP1|611409|15q11.2-q12 [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3) |HERC2, SHEP1|605837|15q11-q13 [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3) |OCA2, P, PED, D15S12, BOCA, EYCL3, HCL3, SHEP1|611409|15q11.2-q12 [Skin/hair/eye pigmentation 2, blond hair/fair skin], 226300 (3) |MC1R, SHEP2|155555|16q24.3 [Skin/hair/eye pigmentation 2, red hair/fair skin], 226300 (3) |MC1R, SHEP2|155555|16q24.3 [Skin/hair/eye pigmentation 3, freckling], 601800 (3) |TYR, SHEP3|606933|11q14-q21 [Skin/hair/eye pigmentation 4, fair/dark skin], 113750 (3) |SLC24A5, NCKX5, SHEP4|609802|15q21.1 [Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3) |SLC45A2, MATP, AIM1, SHEP5|606202|5p13.3 [Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3) |SLC45A2, MATP, AIM1, SHEP5|606202|5p13.3 [Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3) |SLC45A2, MATP, AIM1, SHEP5|606202|5p13.3 [Skin/hair/eye pigmentation 6, blond/brown hair], 210750 (3) |SLC24A2, NCKX4, SHEP6|609840|14q32 [Skin/hair/eye pigmentation 6, blue/green eyes], 210750 (3) |SLC24A2, NCKX4, SHEP6|609840|14q32 [Skin/hair/eye pigmentation 7, blond/brown hair], 611664 (3) |KITLG, MGF, SF, SCF, SHEP7|184745|12q22 [Skin/hair/eye pigmentation 8, freckling], 611724 (3) |SHEP8|611724|6p25.3 [Slow acetylation] (3) |NAT2, AAC2|243400|8p23.1-p21.3 [Social cognition] (2) |CGF1|300082|Xq [Sprinting performance] (3) |ACTN3|102574|11q13-q14 [Statins, attenuated cholesterol lowering by] (3) |HMGCR|142910|5q13.3-q14 [Stature quantitative trait locus 9], 611547 (3) |HMGA2, HMGIC, BABL, LIPO, STQTL9|600698|12q14.3 [Superoxide dismutase, elevated extracellular] (3) |SOD3|185490|4p15.3-p15.1 [Telomere length, mean leukocyte] (2) |TELM|609113|14q23.2 [Urate oxidase deficiency] (1) |UOX|191540|1p22 [Urea transport defect, compensated] (1) |SLC14A1, JK, UTE, UT1|111000|18q11-q12 [Visuospatial/perceptual abilities] (2) |VSPA|313000|Xp22.33 [White blood cell count QTL], 611862 (3) |FY, GPD, WBCQ1|110700|1q21-q22 coenzyme Q10 deficiency, 607426 (3) |PDSS1, TPT, COQ1|607429|10p12.1 van Buchem disease, type 2, 607636 (3) |LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4|603506|11q13.4 van der Woude syndrome 2 (2) |VWS2|606713|1p34 van der Woude syndrome, 119300 (3) |IRF6, VWS, LPS, PIT, PPS, OFC6|607199|1q32-q41 von Hippel-Lindau disease, modification of, 193300 (3) |CCND1, PRAD1, BCL1|168461|11q13 von Hippel-Lindau syndrome, 193300 (3) |VHL|608537|3p26-p25 von Willebrand disease (3) |VWF, F8VWF|193400|12p13.3 von Willebrand disease, platelet-type, 177820 (3) |GP1BA|606672|17pter-p12 {?Allergy and asthma susceptibility} (2) |IGES|147061|5q31.1 {?Amyloidosis, secondary, susceptibility to} (1) |APCS, SAP|104770|1q21-q23 {?Congenital anomalies, susceptibility to} (2) |FOLR1|136430|11q13.3-q13.5 {?Fetal alcohol syndrome} (1) |ALDH2|100650|12q24.2 {?Hypertension, essential} (1) |SAH|145505|16p13.11 {?Parkinsonism, susceptibility to} (1) |CYP2D@, CYP2D, P450C2D|124030|22q13.1 {?Pelvic organ prolapse, susceptibility to}, 176780 (3) |LAMC1, LAMB2|150290|1q31 {?Prostate cancer, susceptibility to}, 176807 (1) |N33|601385|8p22 {?SLE susceptibility} (1) |CR1, C3BR|120620|1q32 {?Schizophrenia, susceptibility to}, 603013 (1) |NRG1, HGL, HRGA, ARIA|142445|8p22-p11 {?Schizophrenia}, 181500 (1) |APOL1|603743|22q12.3 {?Schizophrenia}, 181500 (2) |SCZD2|603342|11q14-q21 {?Wernicke-Korsakoff syndrome, susceptibility to} (1) |TKTL1, TKT2, TKR|300044|Xq28 {AIDS, delayed/rapid progression to}, 609423 (3) |KIR3DL1, NKAT3, NKB1, AMB11, KIR3DS1|604946|19q13.4 {AIDS, resistance to}, 609423 (3) |CXCL12, SDF1|600835|10q11.1 {AIDS, slow progression to}, 609423 (3) |IL4R, IL4RA|147781|16p12.1-p11.2 {AIDS, slow progression to}, 609423 (3) |IL8RA|146929|2q35 {Abacavir hypersensitivity, susceptibility to} (3) |HLA-A|142800|6p21.3 {Abacavir hypersensitivity, susceptibility to} (3) |HLA-B, SPDA1|142830|6p21.3 {Abdominal body fat distribution, modifier of}, 609830 (3) |PPARG, PPARG1, PPARG2|601487|3p25 {Abruptio placentae, susceptibility to} (3) |MTHFD, MTHFC|172460|14q24 {Accelerated tumor formation, susceptibility to} (3) |MDM2|164785|12q14.3-q15 {Acquired long QT syndrome, reduced susceptibility to}, 152427 (3) |ALG10, KCR1|603313|12p11.1 {Age-related maculopathy, susceptibility to}, 603075 (2) |PLEKHA1, TAPP1|607772|10q25.3-q26.2 {Alcohol dependence, susceptibility to}, 103780 (3) |HTR2A|182135|13q14-q21 {Alcoholism, susceptibility to}, 103780 (3) |ADH1B, ADH2|103720|4q22 {Alcoholism, susceptibility to}, 103780 (3) |GABRA2|137140|4p13-p12 {Allergic rhinitis, susceptibility to}, 607154 (3) |IL13, ALRH, BHR1|147683|5q31 {Alzheimer disease 12} (2) |AD12|611073|8p12-q22 {Alzheimer disease 9, late onset, susceptibility to}, 104300 (3) |AD9|608907|19p13.2 {Alzheimer disease, late-onset, susceptibility to}, 104300 (3) |NOS3|163729|7q36 {Alzheimer disease, late-onset, susceptibility to}, 104300 (3) |PLAU, URK|191840|10q24 {Alzheimer disease, late-onset}, 104300 (3) |APBB2, FE65L1|602710|4p14 {Alzheimer disease, pathogenesis, association with}, 104300 (3) |SORL1, LR11, SORLA|602005|11q23.2-q24.2 {Alzheimer disease, susceptibility to}, 104300 (3) |A2M|103950|12p13.3-p12.3 {Alzheimer disease, susceptibility to}, 104300 (3) |ACE, DCP1, ACE1|106180|17q23 {Alzheimer disease, susceptibility to}, 104300 (3) |BLMH, BMH|602403|17q11.2 {Alzheimer disease, susceptibility to}, 104300 (3) |MPO|606989|17q23.1 {Alzheimer disease, susceptibility to}, 104300 (3) |PACIP1, PAXIP1L, PTIP|608254|7q36 {Alzheimer disease-13} (2) |AD13|611152|1q21 {Alzheimer disease-14} (2) |AD14|611152|1q25 {Alzheimer disease-15} (2) |AD15|611155|3q22-q24 {Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3) |DCTN1, HMN7B|601143|2p13 {Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3) |NEFH|162230|22q12.2 {Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3) |PRPH|170710|12q12-q13 {Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to}, 105500 (3) |TRPM7, LTRPC7, CHAK|605692|15q21 {Aneurysm, familial abdominal 3} (2) |AAA3|611891|9p21 {Aneurysm, intracranial berry, 6} (2) |ANIB6|611892|9p21 {Angioedema induced by ACE inhibitors, susceptibility to} (3) |XPNPEP2|300145|Xq25 {Ankylosing spondylitis, susceptibility to, 1}, 106300 (3) |HLA-A|142800|6p21.3 {Anorexia nervosa, susceptibility to} (2) |ANON|606788|1p {Anorexia nervosa, susceptibility to}, 606788 (3) |BDNF|113505|11p13 {Anorexia nervosa, susceptibility to}, 606788 (3) |HTR2A|182135|13q14-q21 {Aplastic anemia, susceptibility to}, 609135 (3) |TERT, TCS1, EST2|187270|5p15.33 {Asperger syndrome, susceptibility to, 1} (2) |ASPG1|608638|3q25-q27 {Asperger syndrome, susceptibility to, 2} (2) |ASPG2|608631|17p13 {Asperger syndrome, susceptibility to, 3} (2) |ASPG3|608781|1q21-q22 {Asperger syndrome, susceptibility to, 4} (2) |ASPG4|609954|3p24-p21 {Asperger syndrome, susceptibility to, X-linked-1}, 300494 (3) |NLGN3, ASPGX1, AUTSX1|300336|Xq13 {Asperger syndrome, susceptibility to, X-linked-2}, 300497 (3) |NLGN4, KIAA1260, AUTSX2, ASPGX2|300427|Xp22.33 {Asthma susceptibility 5}, 611064 (3) |IRAK3, IRAKM, ASRT5|604459|12q14.3 {Asthma, aspirin-induced, susceptibility to}, 208550 (3) |PTGER2|176804|14q22 {Asthma, aspirin-induced, susceptibility to}, 208550 (3) |TBX21, TBET|604895|17q21.3 {Asthma, diminished response to antileukotriene treatment in}, 600807 (3) |ALOX5|152390|10q11.2 {Asthma, nocturnal, susceptibility to}, 600807 (3) |ADRB2|109690|5q32-q34 {Asthma, protection against}, 600807 (3) |MUC7|158375|4q13-q21 {Asthma, susceptibility to, 1}, 607277 (3) |PTGDR, AS1, ASRT1|604687|14q22.1 {Asthma, susceptibility to, 2}, 608584 (3) |GPR154, GPRA, VRR1, PGR14, ASRT2|608595|7p15-p14 {Asthma, susceptibility to}, 600807 (2) |HLA-G|142871|6p21.3 {Asthma, susceptibility to}, 600807 (3) |CCL11, SCYA11|601156|17q21.1-q21.2 {Asthma, susceptibility to}, 600807 (3) |HNMT|605238|2q22 {Asthma, susceptibility to}, 600807 (3) |IL12B, NKSF2|161561|5q31.1-q33.1 {Asthma, susceptibility to}, 600807 (3) |IL13, ALRH, BHR1|147683|5q31 {Asthma, susceptibility to}, 600807 (3) |PLA2G7, PAFAH|601690|6p21.2-p12 {Asthma, susceptibility to}, 600807 (3) |SCGB3A2, UGRP1|606531|5q31-q34 {Asthma, susceptibility to}, 600807 (3) |TNF, TNFA|191160|6p21.3 {Asthma, susceptibility to}, 600807 (3) |UGB, CC10, CCSP, SCGB1A1|192020|11q12.3-q13.1 {Asthma-related traits, susceptibility to, 3} (2) |ASRT3|609958|2p16 {Asthma-related traits, susceptibility to, 4} (2) |ASRT4|610906|1p31 {Asthma-related traits, susceptibility to, 6} (2) |ASRT6|611403|17q21 {Asthma-related traits, susceptibility to, 7}, 611960 (3) |CHI3L1, GP39, YKL40, ASRT7|601525|1q32.1 {Asthma}, 600807 (3) |PHF11, NYREN34|607796|13q14.1 {Atherosclerosis, susceptibility to} (2) |ATHS, ALP|108725|19p13.3-p13.2 {Atherosclerosis, susceptibility to} (2) |SELE, ELAM1|131210|1q23-q25 {Atherosclerosis, susceptibility to} (3) |ALOX5|152390|10q11.2 {Atherosclerosis, susceptibility to} (3) |ESR1, ESR|133430|6q25.1 {Atopy, resistance to}, 147050 (3) |HAVCR1, HAVCR|606518|5q33.2 {Atopy, susceptibility to}, 147050 (3) |IL4R, IL4RA|147781|16p12.1-p11.2 {Atopy, susceptibility to}, 147050 (3) |MS4A2, FCER1B|147138|11q13 {Atopy, susceptibility to}, 147050 (3) |PLA2G7, PAFAH|601690|6p21.2-p12 {Atopy, susceptibility to}, 147050 (3) |SELP, GRMP|173610|1q23-q25 {Atrial fibrillation, familial, 5} (2) |ATFB5|611494|4q25 {Atrioventricular septal defect, susceptibility to, 2}, 606217 (3) |CRELD1, AVSD2|607170|3p25.3 {Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3) |DRD5, DRD1B, DRD1L2|126453|4p16.1-p15.3 {Attention deficit-hyperactivity disorder}, 143465 (2) |ADHD1|608903|16p13 {Attention deficit-hyperactivity disorder}, 143465 (2) |ADHD2|608904|17p11 {Attention deficit-hyperactivity disorder}, 143465 (2) |ADHD3|608905|6q12 {Attention deficit-hyperactivity disorder}, 143465 (2) |ADHD4|608906|5p13 {Attention deficit-hyperactivity disorder}, 143465 (3) |DRD4|126452|11p15.5 {Attention-deficit hyperactivity disorder, susceptibility to}, 143465 (2) |SLC6A3, DAT1|126455|5p15.3 {Atypical mycobacteriosis, familial, X-linked 2} (2) |AMCBX2|300645|Xp21.2-q26.3 {Atypical mycobacteriosis, familial}, 300636 (3) |IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1|300248|Xq28 {Autism, susceptibility to, 10}, 611016 (3) |EN2, AUTS10|131310|7q36 {Autism, susceptibility to, 11} (2) |AUTS11|610836|1q24.2 {Autism, susceptibility to, 14} (2) |AUTS14|611913|16p11.2 {Autism, susceptibility to, 1} (2) |AUTS1|209850|7q22 {Autism, susceptibility to, 3} (2) |AUTS3|608049|13q14.2-q14.1 {Autism, susceptibility to, 4} (2) |AUTS4|608636|15q11 {Autism, susceptibility to, 5} (2) |AUTS5|606053|2q {Autism, susceptibility to, 6} (2) |AUTS6|609378|17q11 {Autism, susceptibility to, 7}, 610676 (2) |AUTS7|610676|17q21 {Autism, susceptibility to, 8} (2) |AUTS8|607373|3q25-q27 {Autism, susceptibility to, X-linked-1}, 300425 (3) |NLGN3, ASPGX1, AUTSX1|300336|Xq13 {Autism, susceptibility to, X-linked-2}, 300495 (3) |NLGN4, KIAA1260, AUTSX2, ASPGX2|300427|Xp22.33 {Autism, susceptibility to, X-linked-3}, 300496 (3) |MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16|300005|Xq28 {Autism, susceptibility to}, 209850 (3) |GLO1|138750|6p21.3-p21.2 {Autism, suseptibility to, 9}, 611015 (3) |MET, AUTS9|164860|7q31 {Autoimmune disease, susceptibility to, 1}, 607836 (3) |FOXD3, AIS1|611539|1p31 {Autoimmune disease, susceptibility to, 2} (2) |AIS2|608391|Chr.7 {Autoimmune disease, susceptibility to, 3} (2) |AIS3|608392|Chr.8 {Autoimmune disease, susceptibility to, 4} (2) |AIS4|609400|4q13-q21 {Autoimmune disease, susceptibility to, 5} (2) |CELIAC6, AIS5|611598|4q27 {Autoimmune lymphoproliferative syndrome}, 601859 (3) |TNFRSF6, APT1, FAS, CD95, ALPS1A|134637|10q24.1 {Autoimmune thyroid disease, susceptibility to 3}, 608175 (3) |TG, AITD3|188450|8q24.2-q24.3 {Autoimmune thyroid disease, susceptibility to, 1} (2) |AITD1|608173|6p11 {Autoimmune thyroid disease, susceptibility to, 2} (2) |AITD2|608174|5q31-q33 {Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3) |ZFAT1, ZNF406, AITD3|610931|8q23-q24 {Autoimmune thyroid disease, susceptibility to, 4} (2) |AITD4|608176|10q {Azoospremia, nonobstructive} (2) |AZON|606766|6p21.3 {Bacteremia, protection against} (3) |TIRAP|606252|11q23-q24 {Benzene toxicity, susceptibility to} (3) |NQO1, DIA4, NMOR1|125860|16q22.1 {Beryllium disease, chronic, susceptibility to} (3) |HLA-DPB1|142858|6p21.3 {Bipolar disorder, susceptibility to}, 125480 (3) |XBP1, XBP2|194355|22q12 {Bladder cancer, somatic}, 109800 (3) |HRAS|190020|11p15.5 {Blepharospasm, primary benign}, 606798 (3) |DRD5, DRD1B, DRD1L2|126453|4p16.1-p15.3 {Bone size QTL} (2) |BSZQTL2|609657|5q {Bone size QTL} (2) |BSZQTL|609656|17q23 {Breast and colorectal cancer, susceptibility to} (3) |CHEK2, RAD53, CHK2, CDS1, LFS2|604373|22q12.1 {Breast cancer, male, susceptibility to}, 114480 (3) |BRCA2, FANCD1|600185|13q12.3 {Breast cancer, protection against}, 114480 (3) |CASP8, MCH5, ALPS2B|601763|2q33 {Breast cancer, susceptibility to} (3) |XRCC3|600675|14q32.3 {Breast cancer, susceptibility to}, 114480 (3) |ATM, ATA, AT1|607585|11q22.3 {Breast cancer, susceptibility to}, 114480 (3) |BARD1|601593|2q34-q35 {Breast cancer, susceptibility to}, 114480 (3) |CHEK2, RAD53, CHK2, CDS1, LFS2|604373|22q12.1 {Breast cancer, susceptibility to}, 114480 (3) |HMMR|600936|5q33.2 {Breast cancer, susceptibility to}, 114480 (3) |PALB2, FANCN|610355|16p12 {Breast cancer, susceptibility to}, 114480 (3) |RAD51A, RECA|179617|15q15.1 {Budd-Chiari syndrome}, 600880 (3) |F5|227400|1q23 {Budd-Chiari syndrome}, 600880 (3) |JAK2|147796|9p24 {Bulimia nervosa, age of onset of weight loss in}, 607499 (3) |BDNF|113505|11p13 {Bulimia nervosa, susceptibility to} (2) |BULN|607499|10p {Cancer progression/metastasis} (3) |FGFR4|134935|5q35.1-qter {Carotid stenosis, susceptibility to} (3) |HABP2, PHBP, HGFAL, FSAP|603924|10q25-q26 {Cataract, age-related cortical, susceptibility to} (2) |ARCC1|609026|6p12-q12 {Celiac disease, susceptibility to, 2} (2) |CELIAC2|609754|5q31-q33 {Celiac disease, susceptibility to, 4}, 609753 (3) |MYO9B, MYR5, CELIAC4|602129|19p13.1 {Celiac disease, susceptibility to, 5} (2) |CELIAC5, GSES|607202|15q11-q13 {Celiac disease, susceptibility to, 6} (2) |CELIAC6, AIS5|611598|4q27 {Celiac disease, susceptibility to}, 212750 (3) |HLA-DQA1, CELIAC1|146880|6p21.3 {Celiac disease, susceptibility to}, 212750 (3) |HLA-DQB1, CELIAC1|604305|6p21.3 {Celiac disease, susceptibility to}, 609755 (3) |CTLA4, IDDM12, CELIAC3|123890|2q33 {Centronuclear myopathy, autosomal, modifier of}, 160150 (3) |MTMR14, C3orf29, HJUMPY|611089|3p25.3 {Cerebral infarction, susceptibility to}, 601367 (3) |PRKCH, PKCL, PRKCL|605437|14q22-q23 {Chronic infections, due to MBL deficiency} (3) |MBL2, MBL, MBP1|154545|10q11.2-q21 {Circulating adiponectin QTL} (2) |CAQ14|606771|Chr.14 {Circulating adiponectin QTL} (2) |CAQ5|606770|Chr.5 {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3) |KRT18|148070|12q13 {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3) |KRT8|148060|12q13 {Cleft lip/palate, susceptibility to}, 119530 (3) |MTR|156570|1q43 {Colon cancer, susceptibility to}, 114500 (3) |AURKA, STK15, AURORA2, BTAK, ARK1|603072|20q13.2-q13.3 {Colonic adenoma recurrence, reduced risk of}, 114500 (3) |ODC1|165640|2p25 {Colorectal cancer, sporadic}, 114500 (3) |PLA2G2A, PLA2B, PLA2L, MOM1|172411|1p35 {Colorectal cancer, susceptibility to} (2) |CRCS9|608812|9q22.32-q31.1 {Colorectal cancer, susceptibility to} (3) |CCND1, PRAD1, BCL1|168461|11q13 {Colorectal cancer, susceptibility to}, 114500 (3) |TLR2, TIL4|603028|4q32 {Colorectal cancer, susceptibility to}, 114500 (3) |TLR4, ARMD10|603030|9q32-q33 {Colorectal cancer, susceptiblity to}, 114500 (3) |SMAD7, MADH7|602932|18q21.1 {Congestive heart failure, susceptibility to} (3) |ADRA2C, ADRA2L2|104250|4p16.1 {Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3) |ABCA1, ABC1, HDLDT1, TGD|600046|9q22-q31 {Coronary artery disease, modifier of} (3) |CCL2, SCYA2, MCP1, MCAF|158105|17q11.2-q12 {Coronary artery disease, resistance to}, 607339 (3) |CX3CR1, GPR13, V28|601470|3pter-p21 {Coronary artery disease, susceptibility to} (1) |LPA|152200|6q27 {Coronary artery disease, susceptibility to} (3) |IRS1|147545|2q36 {Coronary artery disease, susceptibility to} (3) |KL|604824|13q12 {Coronary artery disease, susceptibility to} (3) |PON1, PON, ESA|168820|7q21.3 {Coronary artery disease, susceptibility to} (3) |PON2|602447|7q21.3 {Coronary artery spasm, susceptibility to} (3) |PON1, PON, ESA|168820|7q21.3 {Coronary heart disease, susceptibility to, 2} (2) |CHDS2|608316|2q21.1-q22 {Coronary heart disease, susceptibility to, 3} (2) |CHDS3|300464|Xq23-q26 {Coronary heart disease, susceptibility to, 4} (2) |CHDS4|608318|14q32 {Coronary heart disease, susceptibility to, 5} (2) |CHD5|608901|3q13 {Coronary heart disease, susceptibility to, 7}, 610938 (3) |CD36, CHDS7|173510|7q11.2 {Coronary heart disease, susceptibility to, 8} (2) |CHDS8|611139|9p21 {Coronary heart disease, susceptibility to} (2) |CHDS1|607339|16pter-p13 {Coronary heart disease, susceptibility to} (3) |MMP3, STMY1|185250|11q23 {Coronary spasms, susceptibility to} (3) |NOS3|163729|7q36 {Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3) |HLA-DQB1, CELIAC1|604305|6p21.3 {Crohn disease, ileal, protection against}, 266600 (3) |IL23R|607562|1p32.1-p31.2 {Crohn disease, susceptibility to}, 266600 (2) |DEFB4, DEFB2|602215|8p23.1 {Crohn disease, susceptibility to}, 266600 (3) |DLG5, PDLG, KIAA0583|604090|10q23 {Crohn disease, susceptibility to}, 266600 (3) |NOD2, CARD15, IBD1, CD, ACUG, PSORAS1|605956|16q12 {Crohn disease, susceptibility to}, 266600 (3) |SLC22A4, OCTN1|604190|5q31 {Crohn disease, susceptibility to}, 611081 (3) |ATG16L1, APG16L, IBD10|610767|2q37.1 {Delayed sleep phase syndrome, susceptibility to} (3) |AANAT, SNAT|600950|17q25 {Dementia, vascular, susceptibility to} (3) |TNF, TNFA|191160|6p21.3 {Dengue fever, protection against} (3) |CD209, CDSIGN|604672|19p13.3 {Dermatitis, atopic, susceptibility to}, 605803 (3) |FLG, ATOD2|135940|1q21 {Diabetes mellitus, gestational, susceptibility to} (3) |MBL2, MBL, MBP1|154545|10q11.2-q21 {Diabetes mellitus, insulin-dependent, 11} (2) |IDDM11|601208|14q24.3-q31 {Diabetes mellitus, insulin-dependent, 13} (2) |IDDM13|601318|2q34 {Diabetes mellitus, insulin-dependent, 15} (2) |IDDM15|601666|6q21 {Diabetes mellitus, insulin-dependent, 17} (2) |IDDM17|603266|10q25 {Diabetes mellitus, insulin-dependent, 18} (2) |IDDM18|605598|5q31.1-q33.1 {Diabetes mellitus, insulin-dependent, 2} (2) |IDDM2|125852|11p15.5 {Diabetes mellitus, insulin-dependent, 3} (2) |IDDM3|600318|15q26 {Diabetes mellitus, insulin-dependent, 4} (2) |IDDM4|600319|11q13 {Diabetes mellitus, insulin-dependent, 5}, 600320 (3) |SUMO4, IDDM5|608829|6q25 {Diabetes mellitus, insulin-dependent, 6} (2) |IDDM6|601941|18q21 {Diabetes mellitus, insulin-dependent, 7} (2) |IDDM7|600321|2q31 {Diabetes mellitus, insulin-dependent, 8} (2) |IDDM8|600883|6q25-q27 {Diabetes mellitus, insulin-dependent, X-linked} (2) |IDDMX|300136|Xp11 {Diabetes mellitus, insulin-dependent, susceptibility to, 10}, 601942 (3) |IL2RA, IL2R, IDDM10|147730|10p15.1 {Diabetes mellitus, insulin-dependent, susceptibility to}, 222100 (3) |PTPN22, PEP, PTPN8, LYP|600716|1p13 {Diabetes mellitus, insulin-dependent, susceptibility to}, 601388 (3) |CTLA4, IDDM12, CELIAC3|123890|2q33 {Diabetes mellitus, insulin-dependent, susceptibility to}, 610155 (3) |IFIH1, MDA5, IDDM19|606951|2q24 {Diabetes mellitus, insulin-dependent-1} (2) |IDDM1|222100|6p21.3 {Diabetes mellitus, insulin-dependent}, 222100 (3) |HNF1A, TCF1, MODY3|142410|12q24.2 {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3) |ENPP1, PDNP1, NPPS, M6S1, PCA1|173335|6q22-q23 {Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3) |HNF1A, TCF1, MODY3|142410|12q24.2 {Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3) |WFS1, WFRS, WFS, DFNA6|606201|4p16.1 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3) |CDKAL1|611259|6p22.3 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3) |IGF2BP2, IMP2|608289|3q28 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3) |RETN, RSTN, FIZZ3|605565|19p13.2 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 135853 (3) |SLC30A8, ZNT8|611145|8q24.11 {Diabetes mellitus, noninsulin-dependent} (3) |SLC2A2, GLUT2|138160|3q26.1-q26.3 {Diabetes mellitus, noninsulin-dependent} (3) |SLC2A4, GLUT4|138190|17p13 {Diabetes mellitus, noninsulin-dependent}, 125853 (2) |NIDDM3|603694|20q12-q13.1 {Diabetes mellitus, noninsulin-dependent}, 125853 (2) |NIDDM4|608036|5q34-q35.2 {Diabetes mellitus, noninsulin-dependent}, 125853 (3) |GCGR|138033|17q25 {Diabetes mellitus, noninsulin-dependent}, 125853 (3) |GPD2|138430|2q24.1 {Diabetes mellitus, noninsulin-dependent}, 125853 (3) |HNF4A, TCF14, MODY1|600281|20q12-q13.1 {Diabetes mellitus, noninsulin-dependent}, 125853 (3) |IRS1|147545|2q36 {Diabetes mellitus, noninsulin-dependent}, 125853 (3) |LIPC, HL, LIPH, HDLCQ12|151670|15q21-q23 {Diabetes mellitus, noninsulin-dependent}, 125853 (3) |MAPK8IP1, IB1|604641|11p12-p11.2 {Diabetes mellitus, noninsulin-dependent}, 125853 (3) |NEUROD1, NIDDM|601724|2q32 {Diabetes mellitus, noninsulin-dependent}, 601283 (3) |CAPN10|605286|2q37.3 {Diabetes mellitus, transient neonatal} (2) |TNDM, DMTN|601410|6q24 {Diabetes mellitus, transient neonatal}, 601410 (1) |HYMAI|606546|6q24 {Diabetes mellitus, transient neonatal}, 601410 (1) |PLAGL1, ZAC, LOT1|603044|6q24 {Diabetes mellitus, type 1, susceptibility to}, 222100 (3) |OAS1, OIAS|164350|12q24.2 {Diabetes mellitus, type 2, susceptibility to}, 125853 (3) |TCF7L2, TCF4|602228|10q25.3 {Diabetes mellitus, type I, susceptibility to}, 222100 (3) |FOXP3, IPEX, AIID, XPID, PIDX|300292|Xp11.23-q13.3 {Diabetes mellitus, type II, susceptibility to}, 125853 (3) |IPF1|600733|13q12.1 {Diabetes, type 1, susceptibility to}, 222100 (2) |ITPR3|147267|6pter-p21 {Diabetes, type 2, protection against}, 125853 (3) |HNF1B, TCF2, HNF2, MODY5, FJHN, HPC11|189907|17q12 {Diabetic nephropathy, susceptibility to}, 603933 (3) |ACE, DCP1, ACE1|106180|17q23 {Diabetic retinopathy, NIDDM-related, susceptibility to}, 125853 (3) |VEGF|192240|6p12 {Diphtheria, susceptibility to} (1) |HBEGF, DTR, DTSF, HEGFL|126150|5q23 {Dissection of cervical arteries} (3) |COL1A1|120150|17q21.31-q22 {Down syndrome, susceptibility to}, 190685 (3) |MTR|156570|1q43 {Drug addiction, susceptibility to} (3) |FAAH|602935|1p35-p34 {Dyslexia, susceptibility to, 1}, 127700 (3) |DYX1C1, DYXC1, DYX1|608706|15q21 {Dyslexia, susceptibility to, 2}, 600202 (3) |KIAA0319, DYX2, DYLX2, DLX2|609269|6p22.2 {Dyslexia, susceptibility to, 3} (2) |DYX3|604254|2p16-p15 {Dyslexia, susceptibility to, 5} (2) |DYX5|606896|3p12-q13 {Dyslexia, susceptibility to, 6} (2) |DYX6, DYXQTL18|606616|18p11.2 {Dyslexia, susceptibility to, 8} (2) |DYX8|608995|1p36-p34 {Dyslexia, susceptibility to, 9} (2) |DYX9|300509|Xq27.3 {Dystonia-1, modifier of} (3) |DYT1, TOR1A|605204|9q34 {Endometriosis, susceptibility to, 1} (2) |ENDO1|131200|10q26 {Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3) |CACNA1H, EIG6|607904|16p13.3 {Epilepsy, idiopathic generalized, susceptibility to}, 600669 (3) |OPRM1|600018|6q24-q25 {Epilepsy, idiopathic generalized}, 600669 (2) |EIG1|606970|8q24 {Epilepsy, idiopathic generalized}, 600669 (2) |EIG2|606972|14q23 {Epilepsy, idiopathic generalized}, 600669 (2) |EIG3|608762|9q32-q33 {Epilepsy, idopathic generalized, susceptibility to}, 600669 (3) |ME2|154270|18q21 {Esophagitis, eosinophilic, susceptibility to}. 610247 (3) |CCL26, SCYA26|604697|7q11.2 {Essential tremor, susceptibility to}, 190300 (3) |DRD3, ETM1, FET1|126451|3q13.3 {Exfoliation syndrome, susceptibility to}, 177650 (3) |LOXL1, LOXL|153456|15q22 {Fibrocalculous pancreatic diabetes, susceptibility to} (3) |SPINK1, PSTI, PCTT, TATI|167790|5q32 {Fluorouracil toxicity, sensitivity to} (3) |DPYD, DPD|274270|1p22 {Gastric cancer risk after H. pylori infection}, 137215 (3) |IL1B|147720|2q14 {Gastric cancer risk after H. pylori infection}, 137215 (3) |IL1RN|147679|2q14.2 {Gene expression, variation in, QTL} (2) |GEVQ1|608875|14q32 {Gene expression, variation in, QTL} (2) |GEVQ2|608878|20q13 {Glaucoma, normal tension, susceptibility to}, 606657 (3) |OPA1, NTG, NPG|605290|3q28-q29 {Glaucoma, normal tension, susceptibility to}, 606657 (3) |OPTN, GLC1E, FIP2, HYPL, NRP|602432|10p15-p14 {Glioblastoma, susceptibility to}, 137800 (3) |PPARG, PPARG1, PPARG2|601487|3p25 {Glioma of brain}, 137800 (2) |GLM1|607248|15q23-q26.3 {Gout, susceptibility to} (2) |GOUT1|138900|4q25 {Graft-versus-host disease, protection against} (3) |IL10, CSIF|124092|1q31-q32 {Graves disease, susceptibility to, 2}, 275000 (2) |GRD2|603388|20q13.11 {Graves disease, susceptibility to, 3}, 275000 (3) |GC, DBP|139200|4q12 {Graves disease, susceptibility to, X-linked}, 275000 (2) |GRDX, GD3|300351|Xp11 {Graves disease, susceptibility to}, 275000 (3) |CTLA4, IDDM12, CELIAC3|123890|2q33 {H. pylori infection, susceptibility to}, 600263 (1) |PTPRZ1, PTP18|176891|7q31.3 {H. pylori infection, susceptibility to}, 600263 (3) |IFNGR1|107470|6q23-q24 {HDL response to hormone replacement, augmented} (3) |ESR1, ESR|133430|6q25.1 {HFE hemochromatosis, modifier of}, 235200 (3) |BMP2, BMP2A|112261|20p12 {HIV infection, resistance to}, 609423 (2) |CCL3, SCYA3, MIP1A|182283|17q12 {HIV infection, susceptibility/resistance to} (3) |CMKBR2, CCR2|601267|3p21 {HIV infection, susceptibility/resistance to} (3) |CMKBR5, CCCKR5|601373|3p21 {HIV type 1, susceptibility to}, 609423 (3) |CD209, CDSIGN|604672|19p13.3 {HIV-1 disease, delayed progression of} (3) |CCL5, SCYA5, D17S136E, TCP228|187011|17q11.2-q12 {HIV-1 disease, rapid progression of} (3) |CCL5, SCYA5, D17S136E, TCP228|187011|17q11.2-q12 {HIV-1, resistance to}, 609423 (3) |CCL2, SCYA2, MCP1, MCAF|158105|17q11.2-q12 {HIV-1, susceptibility to} (3) |IL10, CSIF|124092|1q31-q32 {HIV/AIDS, susceptibility to}, 609423 (3) |CCL3L1, SCYA3L1, LD78|601395|17q11.2 {HIV1, resistance to}, 609423 (3) |CCL11, SCYA11|601156|17q21.1-q21.2 {Hepatic fibrosis susceptibility due to Schistosoma mansoni infection} (2) |SM2|604201|6q22-q23 {Hepatitic C virus, susceptibility to}, 609532 (3) |PTPRC, CD45, LCA|151460|1q31-q32 {Hepatitis B virus, susceptibility to}, 610424 (3) |CRFB4|123889|21q22.1 {Hepatitis B virus, susceptibility to}, 610424 (3) |IFNAR2|602376|21q22.1 {Hepatitis C virus, resistance to}, 609532 (3) |CMKBR5, CCCKR5|601373|3p21 {Hepatitis C virus, resistance to}, 609532 (3) |IFNG, IFG, IFI|147570|12q14 {High density lipoprotein cholesterol, low serum, 3} (2) |HDLC3|607687|16q24.1 {Hirschsprung disease, short-segment, 2} (2) |HSCRS2|606874|3p21 {Hirschsprung disease, short-segment, 3} (2) |HSCRS3|606875|19q12 {Hirschsprung disease, susceptibility to, 9} (2) |HSCR9|611644|4q31.3-q32.3 {Hodgkin disease susceptibility, pseudoautosomal} (2) |HDPA|300221|Xpter-p22.32 {Hyperapobetalipoproteinemia, susceptibility to} (3) |PPARA, PPAR|170998|22q12-q13.1 {Hypercalciuria, absorptive, susceptibility to}, 143870 (3) |SAC, HCA2|605205|1q24 {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3) |EPHX2|132811|8p21-p12 {Hypercholesterolemia, susceptibility to}, 143890 (3) |GSBS|604088|7p15 {Hypercholesterolemia, susceptibility to}, 143890 (3) |ITIH4, PK120, ITIHL1|600564|3p21.2-p14.1 {Hyperlipidemia, familial combined, susceptibility to}, 602491 (3) |USF1, HYPLIP1|191523|1q22-q23 {Hypertension, diastolic, resistance to}, 608622 (3) |KCNMB1|603951|5q34 {Hypertension, essential, salt-sensitive}, 145500 (3) |ADD1|102680|4p16.3 {Hypertension, essential, susceptibility to, 1}, 145500 (2) |HYT1|603918|17q {Hypertension, essential, susceptibility to, 2}, 145500 (2) |HYT2|604329|15q {Hypertension, essential, susceptibility to, 3}, 145500 (2) |HYT3|607329|2p25-p24 {Hypertension, essential, susceptibility to, 4}, 145500 (2) |HYT4|608742|12p12.2-p12.1 {Hypertension, essential, susceptibility to, 5}, 145500 (2) |HYT5|610261|20q11-q13 {Hypertension, essential, susceptibility to, 6}, 145500 (2) |HYT6|610262|5p13-q12 {Hypertension, essential, susceptibility to, 7} (2) |HYT7|610948|3p14.1-q12.3 {Hypertension, essential, susceptibility to, 7} (2) |HYT7|610948|3p14.1-q12.3 {Hypertension, essential, susceptibility to, 8}, 611014 (3) |MEX3C, RKHD2|611005|18q21.2 {Hypertension, essential, susceptibility to}, 145500 (3) |AGT, SERPINA8|106150|1q42-q43 {Hypertension, essential, susceptibility to}, 145500 (3) |ECE1|600423|1p36.1 {Hypertension, essential, susceptibility to}, 145500 (3) |GNB3|139130|12p13 {Hypertension, insulin resistance-related, susceptibility to}, 125853 (3) |RETN, RSTN, FIZZ3|605565|19p13.2 {Hypertension, pregnancy-induced}, 189800 (3) |NOS3|163729|7q36 {Hypertension, salt-sensitive essential, susceptibility to}, 145500 (3) |CYP3A5, P450PCN3|605325|7q22.1 {Hypertension, susceptibility to}, 145500 (2) |NOS2A, NOS2|163730|17cen-q11.2 {Hypertension, susceptibility to}, 145500 (3) |NOS3|163729|7q36 {Hypertriglyceridemia, susceptibility to} (2) |HTGS|145750|15q11.2-q13.1 {Hypertriglyceridemia, susceptibility to}, 145750 (3) |APOA5|606368|11q23 {Hypertriglyceridemia, susceptibility to}, 145750 (3) |LIPI, LPDL, PRED5|609252|21q11.2 {Hypertriglyceridemia, susceptibility to}, 145750 (3) |RP1, ORP1|603937|8q11-q13 {Hypertrypsinemia, neonatal} (3) |CFTR, ABCC7, CF, MRP7|602421|7q31.2 {Hypothyroidism, autoimmune}, 140300 (3) |CTLA4, IDDM12, CELIAC3|123890|2q33 {IgA nephropathy susceptibility to}, 161950 (3) |SELL, LYAM1, LAM1, LNHR|153240|1q23-q25 {IgA nephropathy, susceptibility to}, 161950 (2) |PIGR|173880|1q31-q42 {IgA nephropathy, susceptiblity to}, 161950 (3) |SELE, ELAM1|131210|1q23-q25 {Inflammatory bowel disease-2}, 266600 (2) |IBD2|601458|12p13.2-q24.1 {Inflammatory bowel disease-3}, 266600 (2) |IBD3|604519|6p {Inflammatory bowel disease-4}, 266600 (2) |IBD4|606675|14q11-q12 {Inflammatory bowel disease-5}, 266600 (2) |IBD5|606348|5q31 {Inflammatory bowel disease-6}, 266600 (2) |IBD6|606674|19p13 {Inflammatory bowel disease-7}, 266600 (2) |IBD7|605225|1p36 {Inflammatory bowel disease-8}, 266600 (2) |IBD8|606668|16p {Inflammatory bowel disease-9}, 266600 (2) |IBD9|608448|3p26 {Inflammatory response, modulation of} (3) |SEPS1, SELS, VIMP, ADO15|607918|15q26.3 {Insulin resistance, susceptibility to} (3) |PTPN1, PTP1B|176885|20q13.1-q13.2 {Intervertebral disc disease, susceptibility to}, 603932 (3) |COL9A2, EDM2|120260|1p33-p32.2 {Intervertebral disc disease, susceptibility to}, 603932 (3) |COL9A3, EDM3, IDD|120270|20q13.3 {Iron deficiency anemia, susceptibility to} (3) |TF|190000|3q21 {Ischemic stroke, susceptibility to}, 601367 (3) |NOS3|163729|7q36 {Kala-azar, susceptibility to} (2) |KAZA|608207|22q12 {Kaposi sarcoma, susceptibility to}, 148000 (3) |IL6, IFNB2, BSF2|147620|7p21 {Kawasaki disease, susceptibility to}, 611775 (3) |ITPKC|606476|19q13.2 {Lead poisoning, susceptibility to} (3) |ALAD|125270|9q34 {Leanness, inherited} (3) |AGRP, ART, AGRT|602311|16q22 {Leber optic atrophy, susceptibility to} (2) |LOAS|308905|Xp11 {Legionaire disease, susceptibility to}, 608556 (3) |TLR5, TIL3, SLEB1|603031|1q41-q42 {Leprosy, paucibacillary type, susceptibility to} (2) |LPRS|609888|10p13 {Leprosy, susceptibility to}, 246300 (3) |TLR2, TIL4|603028|4q32 {Leprosy, susceptibility to}, 607572 (3) |PRKN, PARK2, PDJ, LPRS2|602544|6q25.2-q27 {Leukemia, acute lymphoblastic, susceptibility to} (3) |HOXD4, HOX4B|142981|2q31-q32 {Leukemia, acute myeloid}, 601626 (3) |CHIC2, BTL|604332|4q11-q12 {Leukemia, chronic lymphatic, susceptibility to}, 151400 (3) |ARL11, ARLTS1|609351|13q14.3 {Leukemia, chronic lymphatic, susceptibility to}, 151400 (3) |MIRN16-1, MIR16-1|609704|13q14.3 {Leukemia, chronic lymphatic, susceptibility to}, 151400 (3) |P2RX7, P2X7|602566|12q24 {Leukemia, chronic lymphocytic, susceptibility to, 1} (2) |CLLS1|609630|11q13.3 {Leukemia, post-chemotherapy, susceptibility to} (3) |NQO1, DIA4, NMOR1|125860|16q22.1 {Listeria monocytogenes, susceptibility to} (3) |CDH1, UVO, LCAM, ECAD|192090|16q22.1 {Long QT syndrome, acquired, susceptibility to} (3) |KCNH2, LQT2, HERG, SQT1|152427|7q35-q36 {Longevity, exceptional}, 152430 (3) |CETP, HDLCQ10|118470|16q21 {Longevity, reduced}, 152430 (3) |AKAP10|604694|17p11.1 {Longevity, susceptibility to}, 152430 (3) |TLR4, ARMD10|603030|9q32-q33 {Longevity, susceptibility to}, 152430 (3) |YTHDF2|610640|1p35 {Low density lipoprotein cholesterol level QTL 1} (3) |PCSK9, NARC1, HCHOLA3, FH3, LDLCQ1|607786|1p34.1-p32 {Low renin hypertension, susceptibility to} (3) |CYP11B2|124080|8q21 {Lumbar disc disease, susceptibility to}, 603932 (3) |CILP|603489|15q22 {Lumbar disc herniation, susceptibility to}, 603932 (3) |COL11A1, STL2|120280|1p21 {Lung cancer susceptibility} (2) |LNCR1|608935|6q23-q25 {Lung cancer, protection against, in smokers} (3) |MPO|606989|17q23.1 {Lung cancer, protection against}, 211980 (3) |CASP8, MCH5, ALPS2B|601763|2q33 {Lung cancer, resistance to}, 211980 (3) |CYP2A6, CYP2A3, CYP2A, P450C2A|122720|19q13.2 {Lung cancer}, 211980 (3) |ERCC6, CKN2, COFS1, CSB, ARMD5|609413|10q11 {Lupus erythematosus, susceptibility to} (2) |CD4|186940|12pter-p12 {Lupus erythematosus, systemic, susceptibility}, 152700 (1) |FCGR3A, CD16, IGFR3|146740|1q23 {Lupus nephritis, susceptibility to} (3) |FCGR2A, IGFR2, CD32|146790|1q21-q23 {Macroglobulinemia, Waldenstrom, susceptibility to, 1} (2) |WM1|153600|6p21.3 {Macroglobulinemia, Waldenstrom, susceptibility to, 2} (2) |WM2|610430|4q {Macular degeneration, age-related, 10}, 611488 (3) |TLR4, ARMD10|603030|9q32-q33 {Macular degeneration, age-related, 1}, 603075 (3) |HMCN1, FBLN6, FIBL6, ARMD1|608548|1q24-q25 {Macular degeneration, age-related, 4}, 610698 (3) |HF1, CFH, HUS, ARMD4|134370|1q32 {Macular degeneration, age-related, 7}, 610149 (3) |HTRA1, PRSS11, ARMD7|602194|10q25.3-q26.2 {Macular degeneration, age-related, 8} (3) |LOC387715, ARMD8|611313|10q26.13 {Macular degeneration, age-related, 9}, 611378 (3) |C3, ARMD9|120700|19p13.3-p13.2 {Macular degeneration, age-related, neovascular type}, 610149 (3) |HTRA1, PRSS11, ARMD7|602194|10q25.3-q26.2 {Macular degeneration, age-related, reduced risk of}, 603075 (3) |C2|217000|6p21.3 {Macular degeneration, age-related, reduced risk of}, 603075 (3) |CFB, BF, GBG|138470|6p21.3 {Macular degeneration, age-related, susceptibility to 5} (3) |ERCC6, CKN2, COFS1, CSB, ARMD5|609413|10q11 {Macular degeneration, age-related, susceptibility to}, 602075 (3) |CX3CR1, GPR13, V28|601470|3pter-p21 {Macular degeneration, age-related}, 603075 (3) |APOE, AD2, LPG|107741|19q13.2 {Major depressive disorder and accelerated response to antidepressant drug treatment}, 608516 (3) |FKBP5, FKBP51|602623|6p21.3-p21.2 {Major depressive disorder, response to citalopram therapy in}, 608516 (3) |HTR2A|182135|13q14-q21 {Malaria, cerebral, reduced risk of}, 611162 (3) |CD36, CHDS7|173510|7q11.2 {Malaria, cerebral, susceptibility to}, 611162 (3) |CD36, CHDS7|173510|7q11.2 {Malaria, cerebral, susceptibility to}, 611162 (3) |ICAM1|147840|19p13.3-p13.2 {Malaria, cerebral, susceptibility to}, 611162 (3) |TNF, TNFA|191160|6p21.3 {Malaria, intensity of infection} (2) |PFBI|248310|5q31-q33 {Malaria, mild, susceptibility to} (2) |MALS|609148|6p21.3 {Malaria, mild, susceptibility to}, 609148 (3) |NCR3, 1C7, NKP30, CD337|611550|6p21.3 {Malaria, protection against}, 611162 (3) |TIRAP|606252|11q23-q24 {Malaria, resistance to}, 611162 (3) |FCGR2B, CD32|604590|1q22 {Malaria, resistance to}, 611162 (3) |GYPA, MN, GPA|111300|4q28.2-q31.1 {Malaria, resistance to}, 611162 (3) |GYPC, GE, GPC|110750|2q14-q21 {Malaria, resistance to}, 611162 (3) |NOS2A, NOS2|163730|17cen-q11.2 {Malaria, severe, resistance to}, 611162 (3) |CR1, C3BR|120620|1q32 {Malaria, vivax, protection against}, 611162 (3) |FY, GPD, WBCQ1|110700|1q21-q22 {Malignant hyperthermia susceptibility 1}, 145600 (3) |RYR1, MHS, CCO|180901|19q13.1 {Malignant hyperthermia susceptibility 2} (2) |MHS2|154275|17q11.2-q24 {Malignant hyperthermia susceptibility 3} (2) |MHS3|154276|7q21-q22 {Malignant hyperthermia susceptibility 4} (2) |MHS4|600467|3q13.1 {Malignant hyperthermia susceptibility 5}, 601887 (3) |CACNA1S, CACNL1A3, CCHL1A3|114208|1q32 {Malignant hyperthermia susceptibility 6} (2) |MHS6|601888|5p {Malignant mesothelioma, susceptibility to} (2) |MMS|156240|9p {Measles, susceptibility to} (1) |MCP, CD46|120920|1q32 {Meconium ileus in cystic fibrosis, susceptibility to} (2) |CFM1|603855|19q13.2-q13.4 {Melanoma susceptibility to}, 155600 (3) |MC1R, SHEP2|155555|16q24.3 {Melanoma, cutaneous malignant, susceptibility to} (3) |XRCC3|600675|14q32.3 {Melanoma, uveal, susceptibility to, 1} (2) |UVM1|606660|3q24-q26 {Melanoma, uveal, susceptibility to, 2} (2) |UBM2|606661|3p25.2-p25.1 {Memory impairment, susceptibility to} (3) |BDNF|113505|11p13 {Menarche, age at, QTL} (2) |MENAQ1|610873|22q13 {Meningococcal disease, susceptibility to} (3) |MBL2, MBL, MBP1|154545|10q11.2-q21 {Menopause, natural, age at, QTL} (2) |MENOQ1|300488|Xp21.3 {Mental health wellness-1} (2) |MHW1|603663|4p {Mental health wellness-2} (2) |MHW2|603664|4q {Metabolic syndrome, protection against}, 605552 (3) |MTP|157147|4q22-q24 {Migraine with aura, susceptibility to, 7} (2) |MGR7|609179|15q11.2-q12 {Migraine with or without aura, susceptibility to, 3} (2) |MGR3|607498|6p21.1-p12.2 {Migraine with or without aura, susceptibility to, 5} (2) |MGR5|607508|19p13 {Migraine with or without aura, susceptibility to} (2) |MGR1, MA|157300|4q24 {Migraine without aura, susceptibility to, 4} (2) |MGR4, MGOA|607501|14q21.2-q22.3 {Migraine without aura, susceptibility to}, 157300 (3) |TNF, TNFA|191160|6p21.3 {Migraine, familial typical, susceptibility to, 1} (2) |MGR2|300125|Xq {Migraine, susceptibility to, 8} (2) |MGR8|609570|5q21 {Migraine, susceptibility to}, 157300 (3) |ESR1, ESR|133430|6q25.1 {Multiple myeloma, resistance to}, 254500 (3) |LIG4|601837|13q22-q34 {Multiple sclerosis, susceptibility to}, 126200 (3) |CD24|600074|6q21 {Multiple sclerosis, susceptibility to}, 126200 (3) |HLA-DQB1, CELIAC1|604305|6p21.3 {Multiple sclerosis, susceptibility to}, 126200 (3) |HLA-DR1B|142857|6p21.3 {Multiple sclerosis, susceptibility to}, 126200 (3) |MHC2TA, C2TA|600005|16p13 {Multiple sclerosis, susceptibility to}, 126200 (3) |PTPRC, CD45, LCA|151460|1q31-q32 {Mycobacterial and salmonella infections, susceptibility to}, 209950 (3) |IL12RB1|601604|19p13.1 {Mycobacterial infection, atypical, familial disseminated}, 209950 (3) |IFNGR2, IFNGT1, IFGR2|147569|21q22.1-q22.2 {Mycobacterium tuberculosis, susceptibility to infection by}, 607948 (3) |NRAMP1, NRAMP|600266|2q35 {Mycobacterium tuberculosis, susceptibility to, 2} (2) |MTBS2|611046|8q12-q13 {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) |CCL2, SCYA2, MCP1, MCAF|158105|17q11.2-q12 {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) |CD209, CDSIGN|604672|19p13.3 {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) |SP110, IFI41, IFI75, VODI|604457|2q37.1 {Myocardial infarcation, susceptibility to} (3) |PSMA6, PROS27, P27K|602855|14q13 {Myocardial infarction susceptibility} (3) |APOE, AD2, LPG|107741|19q13.2 {Myocardial infarction, decreased susceptibility to} (3) |F7|227500|13q34 {Myocardial infarction, susceptibility to} (3) |ACE, DCP1, ACE1|106180|17q23 {Myocardial infarction, susceptibility to} (3) |ALOX5AP, FLAP|603700|13q12 {Myocardial infarction, susceptibility to} (3) |GCLM, GLCLR|601176|1p22.1 {Myocardial infarction, susceptibility to} (3) |LGALS2|150571|22q13.1 {Myocardial infarction, susceptibility to} (3) |LTA, TNFB|153440|6p21.3 {Myocardial infarction, susceptibility to} (3) |MIAT, C22orf35|611082|22q12.1 {Myocardial infarction, susceptibility to} (3) |OLR1, LOX1|602601|12p13-p12 {Myocardial infarction, susceptibility to} (3) |THBD, THRM|188040|20p11.2 {Myocardial infarction, susceptibility to}, 608446 (3) |ESR1, ESR|133430|6q25.1 {Myocardial infarction, susceptibility to}, 608446 (3) |LRP8, APOER2, MCI1|602600|1p34 {Myocardial infarction, susceptibility to}, 608446 (3) |TNFSF4, GP34, OX4OL|603594|1q25 {Narcolepsy, resistance to}, 161400 (2) |NLC1A|610259|21q22.3 {Nasopharyngeal carcinoma 1}, 161550 (2) |NPC1, NPCA1|607107|4p15.1-q12 {Natural teeth remaining intact} (2) |MGP, NTI|154870|12p13.1-p12.3 {Nephrolithiasis, uric acid, susceptibility to}, 605990 (3) |ZNF365, UAN|607818|10q21.2 {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3) |MTRR|602568|5p15.3-p15.2 {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3) |MTR|156570|1q43 {Neural tube defects, susceptibility to}, 182940 (3) |T, TFT|601397|6q27 {Nicotine addiction, protection from}, 188890 (3) |CYP2A6, CYP2A3, CYP2A, P450C2A|122720|19q13.2 {Nicotine addiction, susceptibility to}, 188890 (3) |CHRNA4, ENFL1|118504|20q13.2-q13.3 {Nicotine dependence, protection against}, 188890 (3) |GPR51, GABBR2|607340|9q22.1 {Nicotine dependence, protection against}, 188890 (3) |SLC6A3, DAT1|126455|5p15.3 {Nicotine dependence, susceptibility to}, 188890 (3) |GPR51, GABBR2|607340|9q22.1 {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660 (3) |GP1BA|606672|17pter-p12 {Nonsmall cell lung cancer, susceptibility to}, 211980 (3) |EGFR|131550|7p12.3-p12.1 {Nonsmall cell lung cancer} (2) |DDX26, DICE1|604331|13q14.12-q14.2 {Nonsmall cell lung cancer} (2) |TSG11|603040|11q23 {Norwalk virus infection, resistance to} (3) |FUT2, SE|182100|19q13.3 {Obesity, associated with}, 601665 (3) |FTO|610966|16q12.2 {Obesity, association with}, 601665 (3) |SDC3, SYND3, SDCN|186357|1pter-p22.3 {Obesity, late-onset}, 601665 (3) |AGRP, ART, AGRT|602311|16q22 {Obesity, severe, and type II diabetes}, 601665 (3) |UCP3|602044|11q13 {Obesity, severe, susceptibility to}, 601665 (3) |MC3R|155540|20q13.2 {Obesity, susceptibility to}, 300306 (3) |SLC6A14, OBX|300444|Xq23-q24 {Obesity, susceptibility to}, 601665 (2) |OB10P|603188|10p {Obesity, susceptibility to}, 601665 (2) |OB10Q|607514|10q {Obesity, susceptibility to}, 601665 (2) |OB4|608410|4p15-p14 {Obesity, susceptibility to}, 601665 (3) |ADRB2|109690|5q32-q34 {Obesity, susceptibility to}, 601665 (3) |ADRB3|109691|8p12-p11.2 {Obesity, susceptibility to}, 601665 (3) |CART|602606|5q13.2 {Obesity, susceptibility to}, 601665 (3) |ENPP1, PDNP1, NPPS, M6S1, PCA1|173335|6q22-q23 {Obesity, susceptibility to}, 601665 (3) |GHRL|605353|3p26-p25 {Obesity, susceptibility to}, 601665 (3) |UCP1|113730|4q31 {Obesity, susceptibility to}, 601665 (3) |UCP2|601693|11q13 {Obesity, variation in}, 601665 (3) |PPARGC1B, PGC1B, PERC|608886|5q33 {Obesity/hyperinsulinism, susceptibility to} (2) |OQTL|602025|20q13.11-q13.2 {Obsessive-compulsive disorder 1}, 164230 (3) |SLC6A4, HTT, OCD1|182138|17q11.1-q12 {Obsessive-compulsive disorder, protection against}, 164230 (3) |BDNF|113505|11p13 {Obsessive-compulsive disorder, susceptibility to}, 164230 (3) |HTR2A|182135|13q14-q21 {Oculocutaneous albinism, type II, modifier of}, 203200 (3) |MC1R, SHEP2|155555|16q24.3 {Opioid dependence, susceptibility to, 1} (2) |ODS1|610064|Chr.17 {Ossification of the posterior longitudinal spinal ligaments}, 602475 (2) |COL6A1, OPLL|120220|21q22.3 {Osteoarthritis of hip, female-specific, susceptibility to}, 165720 (3) |FRZB, FRZB1, SRFP3|605083|2q31-q33 {Osteoarthritis susceptibility, female-specific} (2) |OASF, OA|165720|11q {Osteoarthritis, generalized, without dysplasia, susceptibility to} (2) |GOA1|610839|2q33.3 {Osteoarthritis, hand, susceptibility to}, 607850 (3) |MATN3, EDM5, HOA|602109|2p24-p23 {Osteoarthritis, susceptibility to}, 165720 (3) |ASPN, PLAP1|608135|9q21.3-q22 {Osteoporosis, postmenopausal, susceptibility}, 166710 (3) |CALCR, CRT|114131|7q21.3 {Osteoporosis, postmenopausal}, 166710 (3) |COL1A2|120160|7q22.1 {Osteoporosis, susceptibility to}, 166710 (3) |RIL|603422|5q31.1 {Osteoporosis}, 166710 (2) |BMND7|611738|20p12.3 {Osteoporosis}, 166710 (2) |BMND8|611739|11p12 {Osteoporosis}, 166710 (3) |COL1A1|120150|17q21.31-q22 {Osteoporosis}, 166710 (3) |LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4|603506|11q13.4 {Otitis media, susceptibility to} (2) |OMS|166760|10q26.3 {Otosclerosis 4} (2) |OTSC4|611571|16q22.1-q23.1 {Ovarian cancer, epithelial, susceptibility to} (2) |OVCAS1|607893|3p25-p22 {Pancreatic cancer, susceptibility to, 1}, 606856 (3) |PALLD, KIAA0992, PNCA1|608092|4q32.3 {Pancreatitis, chronic, protection against} (3) |PRSS2, TRY2|601564|7q35 {Pancreatitis, chronic, susceptibilty to}, 167800 (3) |CTRC, CLCR|601405|1p36.21 {Pancreatitis, idiopathic} (3) |CFTR, ABCC7, CF, MRP7|602421|7q31.2 {Panic disorder, susceptibility to}, 167870 (3) |COMT|116790|22q11.2 {Parkinson disease, protection against}, 168600 (3) |DRD4|126452|11p15.5 {Parkinson disease, susceptibility to}, 168600 (3) |ADH1C, ADH3|103730|4q22 {Parkinson disease, susceptibility to}, 168600 (3) |FGF20|605558|8p22-p21.3 {Parkinson disease, susceptibility to}, 168600 (3) |NDUFV2|600532|18p11.31-p11.2 {Parkinson disease}, 168600 (3) |NR4A2, NURR1, NOT, TINUR|601828|2q22-q23 {Pemphigoid, susceptibility to} (2) |HLA-DR1B|142857|6p21.3 {Pheochromocytoma, modifier of}, 171300 (3) |GDNF|600837|5p13.1-p12 {Placental abruption} (3) |NOS3|163729|7q36 {Pneumococcal disease, invasive, protection against}, 610799 (3) |TIRAP|606252|11q23-q24 {Polio, susceptibility to} (2) |PVR, PVS|173850|19q13.2-q13.3 {Preeclampsia, susceptibility to} (3) |AGT, SERPINA8|106150|1q42-q43 {Preeclampsia, susceptibility to}, 189800 (3) |EPHX1|132810|1q42.1 {Preterm premature rupture of the membranes, susceptibility to}, 610504 (3) |CBP2, SERPINH2, PPROM|600943|11q13.5 {Prostate cancer aggressiveness QTL}, 176807 (2) |HPCQTL19|607592|19q {Prostate cancer, hereditary, 10} (2) |HPC10|611100|8q24 {Prostate cancer, hereditary, 12}, 611868 (3) |EHBP1, KIAA0903, HPC12|609922|2p15 {Prostate cancer, hereditary, 13}, 611928 (3) |MSMB, HPC13|157145|10q11.2 {Prostate cancer, hereditary, 14} (2) |HPC14|611958|11q13 {Prostate cancer, hereditary, 15} (2) |HPC15|611959|19q13.4 {Prostate cancer, hereditary, 7} (2) |HPC7|610321|15q12 {Prostate cancer, hereditary, 9} (2) |HPC9|610997|17q21-q22 {Prostate cancer, hereditary, X-linked 2} (2) |HPCX2|300704|Xp11.22 {Prostate cancer, progression of}, 176807 (1) |HIP1|601767|7q11.23 {Prostate cancer, susceptibility to, 3}. 176807 (2) |HPC3|608656|20q13 {Prostate cancer, susceptibility to, 4}, 176807 (2) |HPC4|608658|7p11-q21 {Prostate cancer, susceptibility to}, 176807 (2) |CD82, SAR2, KAI1, ST6|600623|11p11.2 {Prostate cancer, susceptibility to}, 176807 (2) |HPC6|609558|22q12.3 {Prostate cancer, susceptibility to}, 176807 (2) |HPCX|300147|Xq27-q28 {Prostate cancer, susceptibility to}, 176807 (2) |PCAP|602759|1q42.2-q43 {Prostate cancer, susceptibility to}, 176807 (3) |AR, DHTR, TFM, SBMA, KD, SMAX1|313700|Xq11-q12 {Prostate cancer, susceptibility to}, 176807 (3) |ATBF1|104155|16q22.3-q23.1 {Prostate cancer, susceptibility to}, 176807 (3) |ELAC2, HPC2|605367|17p11 {Prostate cancer, susceptibility to}, 176807 (3) |MXI1|600020|10q25 {Prostate cancer, susceptibility to}, 611955 (3) |HNF1B, TCF2, HNF2, MODY5, FJHN, HPC11|189907|17q12 {Prostate cancer}, 176807 (3) |PTEN, MMAC1|601728|10q23.31 {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3) |XYLT1, XT1|608124|16p13.1 {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3) |XYLT2, XT2|608125|17q21.3-q22 {Psoraisis, susceptibility to}, 177900 (2) |PSORS9|607857|4q31-q34 {Psoriasis susceptibility 8} (2) |PSORS8|610707|16q {Psoriasis, early onset, susceptibility to}, 177900 (3) |HLA-C, PSORS1|142840|6p21.3 {Psoriasis, susceptibility to}, 177900 (2) |IL12B, NKSF2|161561|5q31.1-q33.1 {Psoriasis, susceptibility to}, 177900 (2) |PSORS2, PSS1|602723|17q25 {Psoriasis, susceptibility to}, 177900 (2) |PSORS3|601454|4q {Psoriasis, susceptibility to}, 177900 (2) |PSORS4|603935|1q21 {Psoriasis, susceptibility to}, 177900 (2) |PSORS5|604316|3q21 {Psoriasis, susceptibility to}, 177900 (2) |PSORS7|605606|1p {Psoriasis, susceptibility to}, 177900 (3) |PSORS6|605364|19p13 {Psoriatic arthritis, susceptibility to}, 607507 (3) |LTA, TNFB|153440|6p21.3 {Psoriatic arthritis, susceptibility to}, 607507 (3) |NOD2, CARD15, IBD1, CD, ACUG, PSORAS1|605956|16q12 {Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (3) |PI, AAT, SERPINA1|107400|14q32.1 {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3) |SFTPA1, SFTP1|178630|10q22.2-q23.1 {Pulmonary fibrosis, idiopathic}, 178500 (2) |ELMOD2|610196|4q31.1 {Pulmonary fibrosis,idiopathic, susceptibility to}, 178500 (3) |TERT, TCS1, EST2|187270|5p15.33 {Pulmonary function} (2) |PLF|608852|6q21-q22 {Pyloric stenosis, infantile hypertrophic, 1, susceptibility to}, 179010 (3) |NOS1, IHPS1|163731|12q24.2-q24.31 {Rapid progression to AIDS from HIV1 infection} (3) |CX3CR1, GPR13, V28|601470|3pter-p21 {Renal cell carcinoma}, 144700 (3) |HNF1B, TCF2, HNF2, MODY5, FJHN, HPC11|189907|17q12 {Restless legs syndrome 1} (2) |RLS1|102300|12q12-q21 {Restless legs syndrome 2} (2) |RLS2|608831|14q13-q21 {Restless legs syndrome 3} (2) |RLS3|610438|9p24-p22 {Restless legs syndrome 4} (2) |RLS4|610439|2q33 {Rheumatoid arthritis, association with}, 180300 (3) |STAT4|600558|2q32.2-q32.3 {Rheumatoid arthritis, progression of}, 180300 (3) |IL10, CSIF|124092|1q31-q32 {Rheumatoid arthritis, susceptibility to} (2) |RA|180300|6q23 {Rheumatoid arthritis, susceptibility to}, 180300 (3) |HLA-DR1B|142857|6p21.3 {Rheumatoid arthritis, susceptibility to}, 180300 (3) |MHC2TA, C2TA|600005|16p13 {Rheumatoid arthritis, susceptibility to}, 180300 (3) |NFKBIL1|601022|6p21.3 {Rheumatoid arthritis, susceptibility to}, 180300 (3) |PADI4, PADI5, PAD|605347|1p36.13 {Rheumatoid arthritis, susceptibility to}, 180300 (3) |PTPN22, PEP, PTPN8, LYP|600716|1p13 {Rheumatoid arthritis, susceptibility to}, 180300 (3) |RUNX1, CBFA2, AML1|151385|21q22.3 {Rheumatoid arthritis, susceptibility to}, 180300 (3) |SLC22A4, OCTN1|604190|5q31 {Rheumatoid arthritis, systemic juvenile, susceptibility to}, 604302 (3) |MIF|153620|22q11.2 {SARS, progression of} (3) |ACE, DCP1, ACE1|106180|17q23 {Sarcoidosis, susceptibility to}, 181000 (3) |BTNL2|606000|6p21.3 {Sarcoidosis, susceptibility to}, 181000 (3) |HLA-DR1B|142857|6p21.3 {Schistosoma mansoni infection, susceptibility/resistance to} (2) |SM1|181460|5q31-q33 {Schizoaffective disorder, susceptibility to}, 181500 (3) |DISC1, SCZD9|605210|1q42.1 {Schizophrenia 12}, 181500 (3) |SCZD12|608543|1p36.2 {Schizophrenia 5}, 603175 (3) |TAAR6, TRAR4, SCZD5|608923|6q23.2 {Schizophrenia, susceptibility to, 4} 600850 (3) |PRODH, PRODH2, SCZD4|606810|22q11.2 {Schizophrenia, susceptibility to}, 181500 (2) |AKT1|164730|14q32.3 {Schizophrenia, susceptibility to}, 181500 (3) |COMT|116790|22q11.2 {Schizophrenia, susceptibility to}, 181500 (3) |DRD3, ETM1, FET1|126451|3q13.3 {Schizophrenia, susceptibility to}, 181500 (3) |HTR2A|182135|13q14-q21 {Schizophrenia, susceptibility to}, 181500 (3) |RTN4R, NOGOR|605566|22q11 {Schizophrenia, susceptibility to}, 181500 (3) |SYN2|600755|3p25 {Schizophrenia, susceptibility to}, 181510 (3) |CLINT1, EPN4, EPNR, KIAA0171, SCZD1|607265|5q33.3 {Schizophrenia, susceptibility to}, 604906 (3) |DISC1, SCZD9|605210|1q42.1 {Schizophrenia, susceptibility to}, 604906 (3) |RGS4, SCZD9|602516|1q23.3 {Schizophrenia, susceptiblity to}, 181500 (3) |CHI3L1, GP39, YKL40, ASRT7|601525|1q32.1 {Schizophrenia}, 181500 (1) |APOL2|607252|22q12.3 {Schizophrenia}, 181500 (1) |APOL4|607254|22q12.3 {Schizophrenia}, 181500 (2) |DAO, DAMOX|124050|12q24 {Schizophrenia}, 181500 (2) |DTNBP1, HPS7|607145|6p22.3 {Schizophrenia}, 181500 (2) |G72|607408|13q34 {Schizophrenia}, 181500 (2) |SCZD10|605419|15q15 {Schizophrenia}, 181500 (2) |SCZD11|608078|10q22.3 {Schizophrenia}, 181500 (2) |SCZD3|600511|6p23 {Schizophrenia}, 181500 (2) |SCZD6|603013|8p21 {Schizophrenia}, 181500 (2) |SCZD7|603176|13q32 {Schizophrenia}, 181500 (2) |SCZD8|603206|18p {Scoliosis, idiopathic 3}, 608765 (3) |CHD7, IS3|608892|8q12.1 {Seasonal affective disorder, susceptibility to}, 608516 (3) |HTR2A|182135|13q14-q21 {Sepsis, susceptibility to} (3) |CASP12, CASP12P1|608633|11q22.3 {Septic shock, susceptibility to} (3) |TNF, TNFA|191160|6p21.3 {Smoking as a quantitative trait locus 1} (2) |SQTL1|611003|10q22 {Smoking as a quantitative trait locus 2} (2) |SQTL2|611004|22q12 {Speech-sound disorder} (2) |SSD|608445|3p12-q13 {Spermatogenic failure, susceptibility to} (3) |DAZL, DAZH, SPGYLA|601486|3p24 {Spina bifida, folate-sensitive, susceptibility to}, 601634 (3) |MTHFD, MTHFC|172460|14q24 {Spina bifida, susceptiblity to}, 182940 (3) |CCL2, SCYA2, MCP1, MCAF|158105|17q11.2-q12 {Spondyloarthropathy, susceptibility to, 1}, 106300 (3) |HLA-B, SPDA1|142830|6p21.3 {Stevens-Johnson syndrome, carbamazepine-induced, susceptibility to}, 608579 (3) |HLA-B, SPDA1|142830|6p21.3 {Stevens-Johnson syndrome, susceptibility to}, 608579 (3) |HLA-A|142800|6p21.3 {Strabismus, susceptibility to, 1} (2) |STBMS1|185100|7p22.1 {Stroke, susceptibility to, 1}, 606799 (3) |PDE4D, DPDE3, STRK1|600129|5q12 {Stroke, susceptibility to}, 601367 (3) |ALOX5AP, FLAP|603700|13q12 {Systemic lupus erythematosus with hemolytic anemia}, 152700 (2) |SLEH1|607279|11q14 {Systemic lupus erythematosus with nephritis, susceptibility to, 1} (2) |SLEN1|607965|10q22.3 {Systemic lupus erythematosus with nephritis, susceptibility to, 2} (2) |SLEN2|607966|2q34-q35 {Systemic lupus erythematosus with nephritis, susceptibility to, 3} (2) |SLEN3|607967|11p15.5 {Systemic lupus erythematosus, resistance to}, 601744 (3) |TLR5, TIL3, SLEB1|603031|1q41-q42 {Systemic lupus erythematosus, susceptibility to or protection against}, 152700 (2) |C4A, C4S|120810|6p21.3 {Systemic lupus erythematosus, susceptibility to, 1}, 152700 (2) |SLEB1, SLE1|601744|1q41-q42 {Systemic lupus erythematosus, susceptibility to, 1}, 601744 (2) |TLR5, TIL3, SLEB1|603031|1q41-q42 {Systemic lupus erythematosus, susceptibility to, 2}, 605218, 152700 (3) |PDCD1, SLEB2|600244|2q37.3 {Systemic lupus erythematosus, susceptibility to, 3}, 152700 (2) |SLEB3|605480|4p16-p15.2 {Systemic lupus erythematosus, susceptibility to, 4}, 152700 (2) |SLEB4|608437|12q24 {Systemic lupus erythematosus, susceptibility to, 5}, 152700 (2) |SLEB5|609903|13q32 {Systemic lupus erythematosus, susceptibility to, 6}, 152700 (2) |SLEB6|609939|16p12.3-q12.2 {Systemic lupus erythematosus, susceptibility to, 7} (2) |SLEB7|610065|20p12 {Systemic lupus erythematosus, susceptibility to, 8} (2) |SLEB8|610066|20q13 {Systemic lupus erythematosus, susceptibility to, 9}, 610927 (3) |CR2, C3DR, SLEB9|120650|1q32 {Systemic lupus erythematosus, susceptibility to}, 152700 (3) |DNASE1, DNL1|125505|16p13.3 {Systemic lupus erythematosus, susceptibility to}, 152700 (3) |FCGR2B, CD32|604590|1q22 {Systemic lupus erythematosus, susceptibility to}, 152700 (3) |PTPN22, PEP, PTPN8, LYP|600716|1p13 {Systemic lupus erythematosus, susceptibility to}, 152700 (3) |TREX1, AGS1, AGS5, CRV, HERNS|606609|3p21.3-p21.2 {Systemic lupus erythematosus, susceptibility}, 152700 (3) |TNFSF6, APT1LG1, FASL|134638|1q23 {Systemic lupus erythematous, association with}, 152700 (3) |STAT4|600558|2q32.2-q32.3 {Systemic lupus erythmatosus, association with}, 152700 (3) |BANK1, FLJ20706, BANK|610292|4q22-q24 {T-cell acute lymphoblastic leukemia} (3) |MYB|189990|6q22 {TSC2 angiomyolipomas, renal, modifier of}, 191100 (3) |IFNG, IFG, IFI|147570|12q14 {Tall stature, susceptibility to}, 606255 (3) |MCM6|601806|2q21 {Thromboembolism susceptibility due to factor V Leiden} (3) |F5|227400|1q23 {Thrombophilia due to factor V Liverpool} (3) |F5|227400|1q23 {Thrombycytosis, susceptibility to}, 187950 (3) |MPL, TPOR, MPLV|159530|1p34 {Thyroid carcinoma, follicular, somatic}, 188470 (3) |HRAS|190020|11p15.5 {Thyrotoxic periodic paralysis, susceptibility to}, 188580 (3) |CACNA1S, CACNL1A3, CCHL1A3|114208|1q32 {Tuberculosis, protection against}, 607948 (3) |TIRAP|606252|11q23-q24 {Tuberculosis, susceptibility to} (2) |MTBS1|607949|2q35 {Tuberculosis, susceptibility to}, 607948 (3) |IFNG, IFG, IFI|147570|12q14 {Tuberculosis, susceptibility to}, 607948 (3) |IFNGR1|107470|6q23-q24 {UV-induced skin damage}, 266300 (3) |MC1R, SHEP2|155555|16q24.3 {Ulcerative colitis, susceptibility to}, 191390 (1) |MUC3A|158371|7q22 {Unipolar depression, susceptibility to}, 608516 (3) |TPH2, NTPH|607478|12q21.1 {Urinary tract infection, susceptibility to} (1) |B3GALT3, GLCT3, P|603094|3q25 {Venous thromboembolism, susceptibility to}, 188050 (3) |HABP2, PHBP, HGFAL, FSAP|603924|10q25-q26 {Venous thrombosis, susceptibility to} (3) |SERPINA10, ZPI|605271|14q32.1 {Viral infection, susceptibility to} (3) |OAS1, OIAS|164350|12q24.2 {Viral infections, recurrent} (3) |FCGR3A, CD16, IGFR3|146740|1q23 {Vitiligo, susceptibility to} (2) |VTLG|193200|6p21.3 {Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3) |NALP1, KIAA0926, DEFCAP, CARD7, SLEV1, VAMAS1|606636|17p13 {Wernicke-Korsakoff syndrome, susceptibility to}, 277730 (3) |TKT|606781|3p14.3 {West nile virus, susceptibility to}, 610379 (3) |CMKBR5, CCCKR5|601373|3p21 {Wilms tumor susceptibility-5}, 601583 (3) |POU6F2, WTSL, WT5|609062|7p14-p13 {congestive heart failure, susceptibility to} (3) |ADRB1, ADRB1R, RHR|109630|10q24-q26 {{Diabetes mellitus, noninsulin-dependent}, 125853 (3) |IRS2|600797|13q34