List of OMIM disorder codes
This is a list of disorder codes in the Online Mendelian Inheritance in Man (OMIM) database. These are diseases that can be inherited via a Mendelian genetic mechanism. OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information.
- Isolated 17,20-lyase deficiency; 202110; CYP17A1
- 17-alpha-hydroxylase/17,20-lyase deficiency; 202110; CYP17A1
- 17-beta-hydroxysteroid dehydrogenase X deficiency; 300438; HSD17B10
- 2-methylbutyrylglycinuria; 610006; ACADSB
- 3-hydroxyacyl-coa dehydrogenase deficiency; 231530; HADHSC
- ; 250620; HIBCH
- 3-M syndrome; 273750; CUL7
- ; 210200; MCCC1
- ; 210210; MCCC2
- 3-Methylglutaconic aciduria type I; 250950; AUH
- 3-Methylglutaconic aciduria type III; 258501; OPA3
- 3-Methylglutaconic aciduria type V; 610198; DNAJC19
- 46XX true hermaphroditism; 400045; SRY
- ; 233420; DHH
- ; 400044; SRY
- ; 612965; NR5A1
- ; 613080; CBX2
- ; 607080; DHH
- ; 274270; DPYD
- ; 610460; TPMT
- Aarskog–Scott syndrome; 305400; FGD1
- ABCD syndrome; 600501; EDNRB
- Abetalipoproteinemia; 200100; MTP
- ; 611126; ACAD9
- ; 114290; SOX9
- Achalasia-Addisonianism-Alacrimia syndrome; 231550; AAAS
- Acheiropody; 200500; LMBR1
- ; 600972; SLC26A2
- Achondrogenesis type 1A; 200600; TRIP11
- Achondrogenesis-hypochondrogenesis type 2; 200610; COL2A1
- Achondroplasia; 100800; FGFR3
- ; 216900; CNGA3
- ; 262300; CNGB3
- Acrocallosal syndrome; 200990; GLI3
- ; 607778; IHH
- Acrodermatitis enteropathica; 201100; SLC39A4
- Acrokeratosis verruciformis; 101900; ATP2A2
- ; 201250; GDF5
- ; 602875; NPR2
- ; 254900; SCARB2
- ; 201460; ACADL
- Acyl-CoA dehydrogenase, medium chain, deficiency of; 201450; ACADM
- Acyl-CoA dehydrogenase, short chain, deficiency of; 201470; ACADS
- ; 211980; EGFR
- ; 211980; BRAF
- ; 211980; ERBB2
- ; 211980; PRKN
- ; 604370; PRKN
- ; 608456; MUTYH
- ; 181030; PLAG1
- Adenomatous polyposis coli; 175100; APC
- ; 102700; ADA
- ; 102900; PKLR
- Adenylosuccinase deficiency; 103050; ADSL
- ; 612556; ADIPOQ
- Adrenal cortical carcinoma; 202300; TP53
- ; 202010; CYP11B1
- ; 201750; POR
- ; 300200; DAX1
- Adrenocorticotropic hormone deficiency; 201400;
- Adrenoleukodystrophy; 300100; ABCD1
- Adrenoleukodystrophy, neonatal; 202370; PEX1
- Adrenoleukodystrophy, neonatal; 202370; PEX10
- Adrenoleukodystrophy, neonatal; 202370; PEX13
- Adrenoleukodystrophy, neonatal; 202370; PEX26
- Adrenoleukodystrophy, neonatal; 202370; PEX5
- Adrenomyeloneuropathy; 300100; ABCD1
- ; 110800; GCNT2
- ; 110800; GCNT2
- ADULT syndrome; 103285; TP63
- ; 604348; PER2
- ; 202400; FGA
- ; 202400; FGB
- Agammaglobulinemia 1; 601495; IGHM
- Agammaglobulinemia 2; 613500; IGLL1
- Agammaglobulinemia 4; 613502; BLNK
- Agammaglobulinemia 5; 613506; LRRC8A
- Agammaglobulinemia and isolated hormone deficiency; 307200; BTK
- ; 300755; BTK
- AGAT deficiency; 612718; GATM
- ; 218000; SLC12A6
- Aicardi–Goutières syndrome 1, dominant and recessive; 225750; TREX1
- Aicardi–Goutières syndrome 2; 610181; RNASEH2B
- Aicardi–Goutières syndrome 3; 610329; RNASEH2C
- Aicardi–Goutières syndrome 4; 610333; RNASEH2A
- Aicardi–Goutières syndrome 5; 612952; SAMHD1
- ; 608688; ATIC
- ; 610205; NOTCH2
- Alagille syndrome; 118450; JAG1
- ; 300600; CACNA1F
- ; 203200; OCA2
- ; 203290; TYRP1
- ; 203100; TYR
- ; 606952; TYR
- ; 203200; OCA2
- ; 278400; TYRP1
- ; 610251; ALDH2
- ; 103900; CYP11B1
- Alexander disease; 203450; GFAP
- Alexander disease; 203450; NDUFV1
- Alkaptonuria; 203500; HGD
- Allan–Herndon–Dudley syndrome; 300523; SLC16A2
- Alopecia universalis; 203655; HR
- ; 612079; RBM28
- Alpers syndrome; 203700; POLG
- ; 609889; RAG1
- ; 262850; PLI
- ; 203740; OGDH
- Alpha-methylacetoacetic aciduria; 203750; ACAT1
- ; 300448; ATRX
- Alpha-thalassemia mental retardation syndrome; 301040; ATRX
- Alport syndrome; 301050; COL4A5
- ; 203780; COL4A3
- ; 203780; COL4A4
- Alström syndrome; 203800; ALMS1
- Alternating hemiplegia of childhood; 104290; ATP1A2
- ; 265380; FOXF1
- Alveolar soft part sarcoma; 606243; ASPSCR1
- ; 104300; APP
- ; 104300; AD6
- ; 104300; AD8
- ; 104300; NOS3
- ; 607822; PSEN1
- ; 607822; PSEN1
- ; 607822; PSEN1
- ; 104300;
- ; 104310; APOE
- ; 606889; PSEN2
- ; 104300; AD5
- ; 613211; WDR72
- ; 104510; DLX3
- ; 301200; AMELX
- ; 130900; FAM83H
- ; 104500; ENAM
- ; 204650; ENAM
- ; 204700; KLK4
- ; 612529; MMP20
- Aminoacylase 1 deficiency; 609924; ACY1
- ; 609056;
- ; 105200; APOA1
- ; 105120; GSN
- ; 105200; FGA
- ; 105210; TTR
- ; 105250; OSMR
- ; 105200; LYZ
- ; 612069; TARDBP
- ; 612577; FIG4
- ; 602433; SETX
- ; 608030; FUS
- ; 608627; VAPB
- ; 611895; ANG
- ; 105400; SOD1
- ; 205100; ALS2
- ; 162100;
- ; 613435; OPTN
- ; 607095; RMRP
- Androgen insensitivity syndrome; 300068; AR
- ; 312300; AR
- ; 224120; CDAN1
- ; 224100; SEC23B
- ; 266120; NT5C3
- ; 268150; RHAG
- ; 206100;
- ; 205950; GLRX5
- ; 205950; SLC25A38
- ; 301310; ABCB7
- ; 300751; ALAS2
- Angelman syndrome; 105830; MECP2
- Angelman syndrome; 105830; UBE3A
- ; 105830; CDKL5
- ; 610618; F12
- ; 106100;
- ; 611773; COL4A1
- Aniridia; 106210; PAX6
- ; 206800; RSPO4
- Anterior segment mesenchymal dysgenesis; 107250; FOXE3
- Anterior segment mesenchymal dysgenesis; 107250; PITX3
- Antithrombin III deficiency; 613118; AT3
- Antley–Bixler syndrome; 207410; FGFR2
- ; 201750; POR
- ; 607834; SLC6A4
- ; 132900; MYH11
- ; 611788; ACTA2
- ; 109730; NOTCH1
- Apert syndrome; 101200; FGFR2
- ; 610256; FOXE3
- ; 180920; FGF10
- Aplastic anemia; 609135; TERC
- Argininemia; 207800; ARG1
- Argininosuccinic aciduria; 207900; ASL
- Aromatase deficiency; 613546; CYP19A1
- Aromatase excess syndrome; 139300; CYP19A1
- Aromatic L-amino acid decarboxylase deficiency; 608643; DDC
- ; 107970; TGFB3
- ; 600996; RYR2
- ; 604400;
- ; 607450; DSP
- ; 610193; DSG2
- ; 610476; DSC2
- ; 611528; JUP
- ; 604400; TMEM43
- ; 609040; PKP2
- ; 208000; ENPP1
- Arterial tortuosity syndrome; 208050; SLC2A10
- Arthrogryposis multiplex congenita, distal type 1; 108120; TPM2
- Arthrogryposis multiplex congenita, distal type 2B; 601680; TNNI2
- ; 193700; MYH3
- Arthrogryposis, distal, type 2B; 601680; MYH3
- Arthrogryposis, distal, type 2B; 601680; TPM2
- ; 611890;
- ; 208085; VPS33B
- ; 613404;
- ; 208230; WISP3
- ; 601680; TNNT3
- Arts syndrome; 301835; PRPS1
- Aspartylglucosaminuria; 208400; AGA
- ; 611263; IFT80
- ; 613091; DYNC2H1
- ; 208550; TBX21
- ; 277460; TTPA
- ; 601238;
- ; 208920; APTX
- ; 606002; SETX
- Ataxia–telangiectasia; 208900; ATM
- ; 604391; MRE11A
- ; 256050; SLC26A2
- ; 108721; FLNB
- ; 108720; FLNB
- ; 601536; HOXA1
- Atopy; 147050; SPINK5
- ; 604273; ATPAF2
- Atransferrinemia; 209300; TF
- Atrial fibrillation; 608583; GJA5
- ; 607554; KCNQ1
- ; 611493; KCNE2
- ; 612201; NPPA
- ; 612240; KCNA5
- ; 611363; TBX20
- ; 612794; ACTC1
- ; 613087; TLL1
- ; 108900;
- ; 607941; GATA4
- Atrichia with papular lesions; 209500; HR
- Atrioventricular canal defect; 600309;
- Atrioventricular septal defect; 600309; GJA1
- ; 606217; CRELD1
- ; 601071; OTOF
- ; 613385; ITCH
- ; 601859; TNFRSF6
- ; 603909; CASP10
- ; 607271; CASP8
- ; 240300; AIRE
- ; 180500; PITX2
- ; 602482; FOXC1
- Azoospermia due to perturbations of meiosis; 270960; SYCP3
- Azoospermia; 415000; USP9Y
- Baller–Gerold syndrome; 218600; RECQL4
- Bamforth–Lazarus syndrome; 241850; FOXE1
- Bannayan–Riley–Ruvalcaba syndrome; 153480; PTEN
- Bardet–Biedl syndrome 1; 209900; BBS1
- Bardet–Biedl syndrome 10; 209900; BBS10
- Bardet–Biedl syndrome 11; 209900; TRIM32
- Bardet–Biedl syndrome 12; 209900; BBS12
- Bardet–Biedl syndrome 13; 209900; MKS1
- Bardet–Biedl syndrome 14; 209900; CEP290
- Bardet–Biedl syndrome 15; 209900;
- Bardet–Biedl syndrome 2; 209900; BBS2
- Bardet–Biedl syndrome 3; 209900; ARL6
- Bardet–Biedl syndrome 4; 209900; BBS4
- Bardet–Biedl syndrome 5; 209900; BBS5
- Bardet–Biedl syndrome 6; 209900; MKKS
- Bardet–Biedl syndrome 7; 209900; BBS7
- Bardet–Biedl syndrome 8; 209900; TTC8
- Bardet–Biedl syndrome 9; 209900;
- ; 604571; TAP1
- ; 604571; TAPBP
- ; 604571; TAP2
- ; 209920;
- ; 209920; RFX5
- ; 209920; RFXAP
- ; 209920; RFX5
- Barth syndrome; 302060; TAZ
- Bart–Pumphrey syndrome; 149200; GJB2
- ; 601678; SLC12A1
- ; 241200; KCNJ1
- ; 607364; CLCNKB
- ; 602522; CLCNKB
- ; 602522; BSND
- ; 613090; CLCNKA
- ; 605462; PTCH1
- ; 605462; PTCH2
- ; 605462; RASA1
- Basal cell nevus syndrome; 109400; PTCH1
- ; 607483; SLC19A3
- ; 126700; HF1
- ; 209950; IL12B
- ; 209950; IFNGR1
- Beare–Stevenson cutis gyrata syndrome; 123790; FGFR2
- Becker muscular dystrophy; 300376; DMD
- Beckwith–Wiedemann syndrome; 130650; CDKN1C
- Beckwith–Wiedemann syndrome; 130650; H19
- Beckwith–Wiedemann syndrome; 130650;
- Beckwith–Wiedemann syndrome; 130650; NSD1
- ; 153670; GP1BA
- ; 231200; GP1BA
- ; 231200; GP1BB
- ; 231200; GP9
- ; 153700; BEST1
- ; 611809; BEST1
- ; 613161; UPB1
- Bethlem myopathy; 158810; COL6A1
- Bethlem myopathy; 158810; COL6A2
- Bethlem myopathy; 158810; COL6A3
- ; 210370; CYP4V2
- ; 608980; FREM1
- ; 613291; SLC10A2
- ; 235555; AKR1D1
- ; 214950; AMACR
- Biotinidase deficiency; 253260; BTD
- ; 612292; KCNK9
- Birt–Hogg–Dubé syndrome; 135150; FLCN
- Björnstad syndrome; 262000; BCS1L
- Bladder cancer; 109800; KRAS
- Bladder cancer; 109800; RB1
- ; 109800; FGFR3
- Blau syndrome; 186580; NOD2
- ; 609821; P2RY12
- ; 110100; FOXL2
- ; 110100; FOXL2
- ; 111150; KLF1
- Bloom syndrome; 210900; RECQL3
- Blue cone monochromacy; 303700; OPN1MW
- Blue cone monochromacy; 303700; OPN1LW
- Boomerang dysplasia; 112310; FLNB
- Börjeson–Forssman–Lehmann syndrome; 301900; PHF6
- ; 601536; HOXA1
- ; 607475; RLBP1
- Bowen–Conradi syndrome; 211180; EMG1
- ; 608389; SIX1
- Brachydactyly type A1; 112500; BDA1B
- Brachydactyly type A1; 112500; IHH
- Brachydactyly type A2; 112600; BMPR1B
- Brachydactyly type A2; 112600; GDF5
- ; 113000; ROR2
- ; 611377; NOG
- Brachydactyly type C; 113100; GDF5
- Brachydactyly type D; 113200; HOXD13
- Brachydactyly type E; 113300; HOXD13
- ; 613382; PTHLH
- ; 610713; HOXD13
- ; 113500; TRPV4
- ; 608415; RGS9
- ; 608415; RGS9BP
- ; 607595; COL4A1
- ; 607595; COL4A1
- ; 113620; TFAP2A
- ; 610896; SIX5
- ; 113650; EYA1
- Branchiootorenal syndrome; 113650; EYA1
- Breast cancer; 114480; PPM1D
- Breast cancer; 114480;
- Breast cancer; 114480; TP53
- ; 114480; BRIP1
- ; 114480; RAD54L
- ; 114480; AKT1
- ; 114480; KRAS
- ; 114480; PIK3CA
- ; 114480; RB1CC1
- Brittle cornea syndrome; 229200; ZNF469
- Brody myopathy; 601003; ATP2A1
- ; 211400; SCNN1B
- ; 613021; SCNN1A
- ; 613071; SCNN1G
- Brooke–Spiegler syndrome; 605041;
- Brown–Vialetto–Van Laere syndrome; 211530; C20orf54
- ; 609220;
- ; 601144; SCN5A
- ; 611777; GPD1L
- ; 611875; CACNA1C
- ; 611876; CACNB2
- ; 612838; SCN1B
- ; 613119; KCNE3
- ; 613120; SCN3B
- ; 613123; HCN4
- Brunner syndrome; 300615; MAOA
- Burkitt's lymphoma; 113970; MYC
- Buschke–Ollendorff syndrome; 166700; LEMD3
- C syndrome; 211750; CD96
- ; 609536; C5
- ; 612446; C6
- ; 610102; C7
- Caffey disease; 114000; COL1A1
- ; 114290; SOX9
- Campomelic dysplasia; 114290; SOX9
- Camptodactyly-arthropathy-coxa vara-pericarditis syndrome; 208250; PRG4
- Camurati–Engelmann disease; 131300; TGFB1
- Canavan disease; 271900; ASPA
- ; 613108; CLEC7A
- ; 212050; CARD9
- ; 608354; RASA1
- Carbamoyl phosphate synthetase I deficiency; 237300; CPS1
- ; 602579; MPI
- ; 212070; CPN1
- ; 114900; SDHD
- ; 600919; ANK2
- ; 612838; SCN1B
- ; 604377; SCO2
- Cardiofaciocutaneous syndrome; 115150; BRAF
- Cardiofaciocutaneous syndrome; 115150; KRAS
- Cardiofaciocutaneous syndrome; 115150; MAP2K1
- Cardiofaciocutaneous syndrome; 115150; MAP2K2
- ; 601493; LDB3
- Cardiomyopathy, dilated; 115200; MYBPC3
- ; 115200; LMNA
- ; 612158; ACTN2
- ; 612877; DSG2
- ; 613122;
- ; 601494; TNNT2
- ; 613172;
- ; 601154; SCN5A
- ; 613252; MYH6
- ; 613286; TNNI3
- ; 604145; TTN
- ; 613642; SDHA
- ; 604765; DES
- ; 605362; EYA4
- ; 606685; SGCD
- ; 607482; CSRP3
- ; 607487; TCAP
- ; 608569; ABCC9
- ; 609909; PLN
- ; 613424; ACTC1
- ; 613426; MYH7
- ; 611407; VCL
- ; 611615; FKTN
- ; 611878; TPM1
- ; 611879; TNNC1
- ; 611880; TNNI3
- ; 300069; TAZ
- ; 302045; DMD
- ; 192600; MYH7
- ; 608758; MYL2
- ; 612098; ACTC1
- ; 612124; CSRP3
- ; 613243; TNNC1
- ; 613251; MYH6
- ; 613255; VCL
- Cardiomyopathy, familial hypertrophic; 192600; CAV3
- Cardiomyopathy, familial hypertrophic; 192600; SLC25A4
- ; 115195; TNNT2
- ; 115196; TPM1
- ; 115197; MYBPC3
- ; 608751; MYL3
- ; 115210; TNNI3
- ; 612422; TNNT2
- ; 600858; PRKAG2
- ; 192600; MYLK2
- ; 608837; MYH8
- ; 160980; PRKAR1A
- ; 212140; SLC22A5
- ; 609338; PPARG
- ; 115430; TTR
- Carpenter syndrome; 201000; RAB23
- Cartilage–hair hypoplasia; 250250; RMRP
- ; 604219; PAX6
- ; 611597; BFSP2
- ; 601547; CRYBB2
- ; 609741; CRYBB3
- ; 611544; CRYBB1
- ; 600881; CRYBA1
- ; 604219; BFSP2
- ; 608983; CRYGD
- ; 302200; NHS
- ; 604307; CRYBB2
- ; 604307; CRYGC
- ; 611391; BFSP1
- ; 115700; CRYGD
- ; 612018;
- ; 604219; BFSP2
- ; 610425; CRYBA4
- ; 116800; HSF4
- ; 116800; HSF4
- ; 601286; CRYGD
- ; 604219; MIP
- ; 613020; EPHA2
- ; 605387; CHMP4B
- ; 610623; PITX3
- ; 610623; PITX3
- ; 607133; CRYBB2
- ; 116200; GJA8
- ; 601885; GJA3
- Cataract-microcornea syndrome; 116150; GJA8
- ; 610474; FGFR3
- ; 607864; AXIN1
- Caudal regression syndrome; 600145;
- ; 116860; CCM1
- ; 612300; CD59
- ; 608957; CD8A
- ; 212780; LRP4
- Central core disease; 117000; RYR1
- Central hypoventilation syndrome; 209880; GDNF
- ; 209880; ASCL1
- ; 209880; BDNF
- ; 209880; EDN3
- ; 209880;
- ; 209880; RET
- ; 613227; CA8
- Cerebellar ataxia; 604290; CP
- ; 224050; VLDLR
- Cerebral amyloid angiopathy; 105150; CST3
- ; 605714; APP
- Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy; 125310; NOTCH3
- ; 603285; PDCD10
- ; 116860; CCM1
- ; 603284;
- ; 609528; SNAP29
- ; 612936; AP4M1
- ; 612900;
- ; 603513; GAD1
- ; 611209; COG1
- Cerebrooculofacioskeletal syndrome 1; 214150; ERCC6
- Cerebrooculofacioskeletal syndrome 2; 610756; ERCC2
- Cerebrooculofacioskeletal syndrome 4; 610758; ERCC1
- Cerebrotendinous xanthomatosis; 213700; CYP27A1
- ; 600143; CLN8
- ; 610127; CTSD
- ; 610951; MFSD8
- ; 610003; CLN8
- Ceroid lipofuscinosis, neuronal 1, infantile; 256730; PPT1
- ; 204500; TPP1
- Ceroid lipofuscinosis, neuronal 3, juvenile; 204200; CLN3
- ; 256731; CLN5
- ; 601780; CLN6
- ; 603956; FGFR3
- Chanarin–Dorfman syndrome; 275630; ABHD5
- Char syndrome; 169100; TFAP2B
- ; 606595; HSPB1
- ; 607831; GDAP1
- ; 608673; HSPB8
- ; 606482; DNM2
- ; 613287; AARS
- ; 607706; GDAP1
- ; 607791; MPZ
- ; 606482; DNM2
- ; 608323; YARS
- ; 608340; GDAP1
- ; 613641; KARS
- ; 118220; PMP22
- ; 118200; MPZ
- ; 601098; LITAF
- ; 607678; EGR2
- ; 118300; PMP22
- ; 607734; NEFL
- ; 118210; KIF1B
- ; 609260; MFN2
- ; 600882; RAB7
- ; 605588; LMNA
- ; 605589; MED25
- ; 601472; GARS
- ; 607684; NEFL
- ; 607677; MPZ
- ; 607736; MPZ
- ; 214400; GDAP1
- ; 601382; MTMR2
- ; 604563; SBF2
- ; 601596; SH3TC2
- ; 601455; NDRG1
- Charcot–Marie–Tooth disease type 4F; 145900; PRX
- ; 609311; FGD4
- ; 611228; FIG4
- ; 311070; PRPS1
- ; 302800; GJB1
- CHARGE syndrome; 214800; CHD7
- CHARGE syndrome; 214800;
- Chédiak–Higashi syndrome; 214500;
- Cherubism; 118400; SH3BP2
- ; 610448; TREX1
- CHILD syndrome; 308050; NSDHL
- ; 214700; SLC26A3
- ; 605479; ABCB11
- ; 243300; ATP8B1
- ; 147480; ABCB4
- Cholestasis, progressive familial intrahepatic 1; 211600; ATP8B1
- Cholestasis, progressive familial intrahepatic 2; 601847; ABCB11
- Cholestasis, progressive familial intrahepatic 3; 602347; ABCB4
- ; 607765; HSD3B7
- Cholesteryl ester storage disease; 278000;
- ; 118600; ANKH
- ; 222765; GNPAT
- ; 302960; EBP
- ; 302950; ARSE
- ; 215045; PTHR1
- Chondrodysplasia, Grebe type; 200700; GDF5
- Chondrosarcoma; 215300; EXT1
- ; 612237; TAF15
- ; 612237; TFG
- ; 612237;
- ; 118700; NKX2-1
- Choreoacanthocytosis; 200150; VPS13A
- ; 610978; NKX2-1
- ; 613105; PRPH2
- Choroid plexus papilloma; 260500; TP53
- Choroideremia; 303100; CHM
- ; 606232; SHANK3
- ; 613443; MEF2C
- ; 609441; BMPR1B
- ; 233700; NCF1
- ; 233710; NCF2
- ; 233690; CYBA
- ; 306400; CYBB
- Chylomicron retention disease; 246700; SAR1B
- ; 244400; DNAI1
- ; 612518; KTU
- ; 612649; RSPH4A
- ; 612650; RSPH9
- ; 613193; LRRC50
- ; 608644; DNAH5
- ; 610852; TXNDC3
- ; 611884; DNAH11
- ; 612444; DNAI2
- ; 607115; NLRP3
- ; 604901; CIRH1A
- Citrullinemia; 215700; ASS1
- ; 603471; SLC25A13
- ; 605814; SLC25A13
- ; 225060;
- ; 119540; SATB2
- ; 303400; TBX22
- ; 119540; UBB
- Cleidocranial dysplasia; 119600; RUNX2
- ; 605039; CD96
- ; 609535; CYP2C
- ; 119800; PITX1
- COACH syndrome; 216360; CC2D2A
- COACH syndrome; 216360; RPGRIP1L
- COACH syndrome; 216360; TMEM67
- Cockayne syndrome type A; 216400; ERCC8
- Cockayne syndrome type B; 133540; ERCC6
- ; 613630; CHUK
- Coenzyme Q10 deficiency; 607426; APTX
- Coenzyme Q10 deficiency; 607426; CABC1
- Coenzyme Q10 deficiency; 607426; COQ2
- Coenzyme Q10 deficiency; 607426; COQ9
- Coenzyme Q10 deficiency; 607426; PDSS1
- Coenzyme Q10 deficiency; 607426; PDSS2
- Coffin–Lowry syndrome; 303600; RPS6KA3
- Cohen syndrome; 216550; COH1
- ; 120100; NLRP3
- ; 610313; CLCF1
- Cold-induced sweating syndrome; 272430; CRLF1
- Coloboma of optic nerve; 120430; PAX6
- Coloboma, ocular; 120200; PAX6
- Coloboma, ocular; 120200; SHH
- ; 114500; PTPRJ
- ; 303800; OPN1MW
- ; 190900; OPN1SW
- ; 132600; MUTYH
- Colorectal cancer; 114500; AXIN2
- Colorectal cancer; 114500; BUB1B
- Colorectal cancer; 114500; EP300
- Colorectal cancer; 114500; NRAS
- Colorectal cancer; 114500;
- Colorectal cancer; 114500; TP53
- ; 120435; MSH2
- ; 609310; MLH1
- ; 613244;
- ; 109800; FGFR3
- ; 114500; AKT1
- ; 114500; APC
- ; 114500; FLCN
- ; 114500; MLH3
- ; 114500; PIK3CA
- ; 233650; RAG1
- ; 233650; RAG2
- ; 227300; LMAN1
- Combined hyperlipidemia, familial; 144250; LPL
- ; 312863; IL2RG
- ; 609060; GFM1
- ; 610498; MRPS16
- ; 610505; TSFM
- ; 610678; TUFM
- ; 611719; MRPS22
- ; 300816; AIFM1
- ; 611721; PSAP
- ; 120790;
- ; 609814; HF1
- ; 610984; CFI
- ; 252010; NDUFS6
- ; 613093; PDE6C
- ; 602093; GUCA1A
- ; 610283; SEMA4A
- ; 610381;
- ; 612657; PROM1
- ; 608194; RPGRIP1
- ; 602093; GUCA1A
- ; 613660;
- ; 604116; ABCA4
- ; 600977;
- ; 601777; GUCY2D
- ; 603649; RIMS1
- ; 612775; ADAM9
- ; 300476; CACNA1F
- ; 304020; RPGR
- ; 120970; CRX
- Congenital bilateral absence of vas deferens; 277180; CFTR
- ; 604168; CTDP1
- ; 212065; PMM2
- ; 603147; ALG6
- ; 601110; ALG3
- ; 608799; DPM1
- ; 609180; MPDU1
- ; 607143; ALG12
- ; 608104; ALG8
- ; 607906; ALG2
- ; 212066; MGAT2
- ; 606056; GCS1
- Congenital disorder of glycosylation type IIc; 266265; SLC35C1
- ; 607091; B4GALT1
- ; 608779; COG7
- ; 603585; SLC35A1
- ; 611209; COG1
- ; 611182; COG8
- ; 613489; COG4
- ; 608093;
- ; 608540; ALG1
- ; 608776; ALG9
- ; 610768; TMEM15
- ; 612015; RFT1
- ; 612937; DPM3
- ; 612379; SRD5A3
- ; 306955; ZIC3
- ; 612863;
- ; 217090; PLG
- Conotruncal anomaly face syndrome; 217095; TBX1
- ; 121050; FBN2
- ; 607745;
- ; 604352; GPR98
- ; 606963; MMP1
- Coproporphyria; 121300; CPOX
- ; 217300; KERA
- ; 609140; COL8A2
- ; 607541; TGFBI
- ; 610048; DCN
- ; 121800; UBIAD1
- ; 121820; TGFBI
- ; 136800; COL8A2
- ; 613268; SLC4A11
- ; 613270; ZEB1
- ; 204870; TACSTD2
- ; 121900; TGFBI
- ; 122000; VSX1
- ; 122200; TGFBI
- ; 608471; TGFBI
- ; 609141; ZEB1
- ; 608470; TGFBI
- ; 602082; TGFBI
- ; 217700; SLC4A11
- ; 217400; SLC4A11
- ; 121850; PIKFYVE
- ; 122470; NIPBL
- ; 300590;
- ; 610759; CSPG6
- ; 300472; IGBP1
- ; 304100; L1CAM
- ; 610042; CNTNAP2
- ; 611489; CBG
- Cortisone reductase deficiency; 604931; H6PD
- Cortisone reductase deficiency; 604931; HSD11B1
- Costello syndrome; 218040; HRAS
- ; 122700; CYP2A6
- Cousin syndrome; 260660; TBX15
- Cowden syndrome; 158350; PTEN
- ; 612359; SDHB
- ; 612359; SDHD
- CPT deficiency, hepatic, type IA; 255120; CPT1A
- ; 600649; CPT2
- ; 608836; CPT2
- Cranioectodermal dysplasia; 218330;
- ; 122880; PAX3
- Craniofrontonasal dysplasia; 304110; EFNB1
- Cranio-lenticulo-sutural dysplasia; 607812; SEC23A
- Craniometaphyseal dysplasia; 123000; ANKH
- ; 259100; HPGD
- ; 123100; TWIST1
- ; 604757; MSX2
- CRASH syndrome; 303350; L1CAM
- ; 300352; SLC6A8
- ; 123320; CAV3
- Creutzfeldt–Jakob disease; 123400; PRNP
- Crigler–Najjar syndrome type I; 218800; UGT1A1
- Crigler–Najjar syndrome type II; 606785; UGT1A1
- Crisponi syndrome; 601378; CRLF1
- Crouzon syndrome with acanthosis nigricans; 612247; FGFR3
- Crouzon syndrome; 123500; FGFR2
- ; 219050;
- ; 219050; INSL3
- Currarino syndrome; 176450; MNX1
- ; 613177; LTBP4
- ; 123700; ELN
- ; 123700; FBLN5
- ; 219100; FBLN5
- ; 219100; EFEMP2
- ; 219200; ATP6V0A2
- ; 612940; PYCR1
- ; 219100; LOX
- ; 132700;
- Cystathioninuria; 219500;
- Cystic fibrosis; 219700; CFTR
- ; 219900; CTNS
- ; 219800; CTNS
- ; 219750; CTNS
- Cystinuria; 220100; SLC3A1
- Cystinuria; 220100; SLC7A9
- Cytochrome C oxidase deficiency; 220110; COX6B1
- D-2-hydroxyglutaric aciduria; 600721; D2HGDH
- Dandy–Walker malformation; 220200; ZIC1
- Dandy–Walker malformation; 220200;
- Darier disease; 124200; ATP2A2
- ; 612541; G6PC3
- D-bifunctional protein deficiency; 261515; HSD17B4
- ; 256050; SLC26A2
- ; 278800; ERCC6
- ; 124900; DIAPH1
- ; 601316; EYA4
- ; 601317; MYO7A
- ; 601868; COL11A2
- ; 602459; POU4F3
- ; 603622; MYH9
- ; 604717; ACTG1
- ; 606346; MYO6
- ; 605192; SIX1
- ; 605583; SLC17A8
- ; 608641;
- ; 600101; KCNQ4
- ; 612644; GJB3
- ; 606705; TMC1
- ; 605594; DSPP
- ; 601544; GJB2
- ; 612643; GJB6
- ; 600652; MYH14
- ; 607453; CCDC50
- ; 607841; MYO1A
- ; 600994; DFNA5
- ; 613074;
- ; 601543; TECTA
- ; 601369; COCH
- ; 605316; TMPRSS3
- ; 601386; CDH23
- ; 603720; STRC
- ; 602092; USH1C
- ; 220290; GJB2
- ; 612645; GJB6
- ; 600060; MYO7A
- ; 603629; TECTA
- ; 607039;
- ; 609533; PCDH15
- ; 613285; GRXCR1
- ; 609823; TRIOBP
- ; 600316; MYO15A
- ; 607101; MYO3A
- ; 607084; WHRN
- ; 608565; ESRRB
- ; 609006; ESPN
- ; 607821; MYO6
- ; 608265; HGF
- ; 610153; MARVELD2
- ; 609706; COL11A2
- ; 610220;
- ; 600971;
- ; 611451; LRTOMT
- ; 610265;
- ; 600974; TMC1
- ; 613079; LOXHD1
- ; 613307;
- ; 601072; TMPRSS3
- ; 613391; PTPRQ
- ; 601071; OTOF
- ; 613453; SERPINB6
- ; 611022; RDX
- ; 610706; FGF3
- ; 220290; GJB6
- ; 220290; GJB3
- ; 606346; MYO6
- ; 304500; PRPS1
- ; 304400; POU3F4
- ; 603528; PIEZO1
- Dejerine–Sottas disease; 145900; PMP22
- Dejerine–Sottas neuropathy; 145900; EGR2
- ; 145900; PRX
- Dejerine–Sottas syndrome; 145900; MPZ
- ; 176500; ITM2B
- ; 117300; ITM2B
- ; 600795; CHMP2B
- ; 600274; PSEN1
- ; 600274; MAPT
- ; 127750; SNCA
- ; 127750; SNCB
- ; 300555; OCRL
- Dent's disease; 300009; CLCN5
- ; 125370; ATN1
- ; 125420; DSPP
- ; 125490; DSPP
- ; 125500; DSPP
- Denys–Drash syndrome; 194080; WT1
- Dermatopathia pigmentosa reticularis; 125595; KRT14
- ; 251450; CANT1
- ; 135290; APC
- Desmosterolosis; 602398; DHCR24
- ; 125800; AQP2
- ; 304800; AVPR2
- ; 125700; AVP
- ; 125851; GCK
- ; 125852; INS
- ; 612520; HNF1A
- ; 610549; INSR
- ; 612227; PAX4
- ; 610199;
- ; 125853; ABCC8
- ; 125853; HNF1B
- ; 125853; GCK
- ; 606176; ABCC8
- ; 606176; GCK
- ; 606176; INS
- ; 609069; PTF1A
- ; 606176; KCNJ11
- ; 610374; ABCC8
- ; 601410; ZFP57
- ; 610582; KCNJ11
- Diabetes mellitus, type 1; 125852; INS
- Diabetes mellitus, type 2; 125853; PAX4
- Diabetes mellitus type II; 125853; AKT2
- ; 606176; KCNJ11
- ; 105650; RPS19
- ; 613309; RPS26
- ; 612527; RPS17
- ; 612528; RPL35A
- ; 612561; RPL5
- ; 612562; RPL11
- ; 612563; RPS7
- ; 613308; RPS10
- Diamond–Blackfan anemia; 610629; RPS24
- ; 610187; ZFPM2
- ; 270420; SPINT2
- ; 610370; NEUROG3
- Diarrhea 5, with tufting enteropathy, congenital; 613217;
- Diastrophic dysplasia; 222600; SLC26A2
- ; 222600; SLC26A2
- Dicarboxylic aminoaciduria; 222730; SLC1A1
- DiGeorge syndrome; 188400; TBX1
- ; 119900; HPGD
- Dihydropyrimidine dehydrogenase deficiency; 274270; DPYD
- ; 222748; DPYS
- ; 605676; DSP
- ; 605850;
- ; 201750; POR
- Donnai–Barrow syndrome; 222448; LRP2
- Dopamine beta-hydroxylase deficiency; 223360; DBH
- ; 300018; DAX1
- Double outlet right ventricle; 217095; CFC1
- Double outlet right ventricle; 217095; GDF1
- Dowling–Degos disease; 179850; KRT5
- ; 126600; EFEMP1
- Dravet syndrome; 607208; SCN1A
- ; 604356; CHN1
- Duane-radial ray syndrome; 607323; SALL4
- Dubin–Johnson syndrome; 237500; ABCC2
- Duchenne muscular dystrophy; 310200; DMD
- ; 223800; DYM
- Dysautonomia, familial; 223900; IKBKAP
- Dyschromatosis symmetrica hereditaria; 127400; ADAR
- ; 300367; GATA1
- Dyskeratosis congenita; 127550; TERT
- Dyskeratosis congenita; 224230; NOLA2
- ; 127550; TERC
- ; 127550; TINF2
- ; 224230;
- ; 305000; DKC1
- ; 224410; HSPG2
- ; 612067; PRKRA
- ; 602629; THAP1
- sepiapterin reductase deficiency; 612716; SPR
- ; 233910; GCH1
- ; 607371; ACTB
- ; 159900; DRD2
- ; 128100; DYT1
- ; 159900; SGCE
- ; 128235; ATP1A3
- ; 612953; PLA2G6
- ; 314250; TAF1
- ; 226600; COL7A1
- ; 132000; COL7A1
- ; 129490; EDARADD
- ; 224900; EDARADD
- ; 612132; NFKBIA
- ; 305100; ED1
- ; 225280; CDH3
- ; 129500; GJB6
- ; 129490; EDAR
- ; 224900; EDAR
- ; 300291; IKBKG
- ; 602032; KRT85
- Ectodermal dysplasia-skin fragility syndrome; 604536; PKP1
- ; 613573;
- ; 300301; IKBKG
- ; 129600; FBN1
- ; 225100; ADAMTSL4
- ; 604292; TP63
- ; 606408; TNXB
- ; 225320; COL1A2
- ; 130020; TNXB
- ; 601776; CHST14
- ; 130070; B4GALT7
- ; 130000; COL1A1
- ; 130000; COL5A1
- ; 130000; COL5A2
- ; 130010; COL5A1
- ; 130020; COL3A1
- ; 130050; COL3A1
- ; 225400;
- ; 130060; COL1A1
- ; 130060; COL1A2
- ; 225410; ADAMTS2
- Eiken syndrome; 600002; PTHR1
- ; 611804; EPB41
- ; 130600; SPTA1
- Ellis–van Creveld syndrome; 225500; EVC
- Ellis–van Creveld syndrome; 225500; LBN
- ; 612998; SYNE1
- ; 612999; SYNE2
- ; 300696; FHL1
- Emery–Dreifuss muscular dystrophy; 310300; EMD
- ; 181350; LMNA
- ; 181350; LMNA
- ; 613490; SERPINA1
- ; 613490; SERPINA1
- ; 604273; TMEM70
- ; 604218; SERPINI1
- ; 300673; MECP2
- ; 612651; ICK
- Endometrial cancer; 608089; MLH3
- ; 608089; MSH6
- ; 603034; COLQ
- ; 268100; NR2E3
- Enlarged vestibular aqueduct; 600791; FOXI1
- Enlarged vestibular aqueduct; 600791; SLC26A4
- ; 226200;
- ; 261500; EPX
- Epidermodysplasia verruciformis; 226400; TMC6
- Epidermodysplasia verruciformis; 226400; TMC8
- ; 131750; COL7A1
- ; 226600; COL7A1
- ; 131800; ITGB4
- ; 604129; COL7A1
- ; 609352; KRT5
- Epidermolysis bullosa simplex with mottled pigmentation; 131960; KRT5
- ; 612138; PLEC1
- ; 131760; KRT14
- ; 131760; KRT5
- ; 131900; KRT14
- ; 131900; KRT5
- ; 131950; PLEC1
- ; 601001; KRT14
- ; 131800; KRT14
- ; 131800; KRT5
- ; 226650; LAMA3
- ; 226700; LAMA3
- ; 226700; LAMB3
- ; 226700; LAMC2
- ; 226650; COL17A1
- ; 226650; ITGB4
- ; 226650; LAMB3
- ; 226650; LAMC2
- ; 226730; ITGB4
- ; 226730; ITGA6
- ; 609638; DSP
- ; 131850; COL7A1
- Epidermolytic hyperkeratosis; 113800; KRT1
- Epidermolytic hyperkeratosis; 113800; KRT10
- Epidermolytic palmoplantar keratoderma; 144200; KRT9
- ; 121201; KCNQ3
- ; 121200; KCNQ2
- ; 300088;
- ; 604233; SCN1A
- ; 604233; GABRG2
- , susceptibility to; 613060; GABRD
- ; 254780;
- ; 254780; NHLRC1
- ; 300432; ARX
- ; 609304; SLC25A22
- ; 600513; CHRNA4
- ; 605375; CHRNB2
- ; 610353; CHRNA2
- ; 600512; LGI1
- ; 254800; CSTB
- ; 612437; PRICKLE1
- ; 254780; NHLRC1
- ; 611726; KCTD7
- ; 266100; ALDH7A1
- ; 607208; SCN1A
- ; 300491; SYN1
- ; 308350; ARX
- ; 300672; CDKL5
- ; 612164; STXBP1
- ; 613477; SPTAN1
- ; 606369; MAPK10
- ; 132400; COMP
- ; 600204; COL9A2
- ; 600969; COL9A3
- ; 226900; SLC26A2
- ; 607078; MATN3
- ; 132450; COL2A1
- ; 108500; CACNA1A
- ; 612656; SLC1A3
- ; 160120; KCNA1
- Epstein syndrome; 153650; MYH9
- ; 133020; SCN9A
- ; 245340; SLC16A1
- ; 609820; EGLN1
- ; 611783; EPAS1
- ; 133200; GJB3
- ; 133200; GJB4
- Escobar syndrome; 265000; CHRNG
- Esophageal cancer; 133239;
- ; 133239; TGFBR2
- ; 133239;
- Esophageal squamous cell carcinoma; 133239;
- Esophageal squamous cell carcinoma; 133239; LZTS1
- Esophageal squamous cell carcinoma; 133239; WWOX
- Ethylmalonic encephalopathy; 602473; ETHE1
- Ewing sarcoma; 612219; EWSR1
- ; 612714; COX4I2
- ; 133700; EXT1
- ; 133701; EXT2
- ; 601813; LRP5
- ; 613310; TSPAN12
- Exudative vitreoretinopathy; 133780; FZD4
- ; 305390; NDP
- Fabry disease; 301500; GLA
- ; 301500; GLA
- ; 227300; MCFD2
- Factor V deficiency; 227400; F5
- ; 612416; F11
- ; 612416; F11
- Factor XII deficiency; 234000; F12
- Factor XIIIA deficiency; 613225; F13A1
- Factor XIIIB deficiency; 613235; F13B
- ; 125350; PTHR1
- ; 611762; NALP12
- ; 134610; MEFV
- ; 249100; MEFV
- ; 613390; RAD51C
- Fanconi anemia, complementation group A; 227650; FANCA
- Fanconi anemia, complementation group B; 300514;
- ; 605724; BRCA2
- ; 609053; FANCI
- Fanconi anemia, complementation group J; 609054; BRIP1
- Fanconi anemia, complementation group N; 610832; PALB2
- ; 613388; SLC34A1
- Fanconi–Bickel syndrome; 227810; SLC2A2
- Farber lipogranulomatosis; 228000; ASAH1
- ; 609016; HADHA
- ; 604403; SCN1A
- ; 604403; SCN9A
- ; 611277; GABRG2
- Fechtner syndrome; 153640; MYH9
- Feingold syndrome; 164280; MYCN
- Fertile eunuch syndrome; 228300; GNRHR
- Fetal akinesia deformation sequence; 208150;
- Fetal akinesia deformation sequence; 208150; RAPSN
- ; 141749; HBG1
- ; 141749; HBG2
- ; 300321; FLNA
- ; 300422; CASK
- Fibrodysplasia ossificans progressiva; 135100; ACVR1
- ; 135300; SOS1
- ; 135300;
- ; 228600; ANTXR2
- ; 135700; KIF21A
- ; 602078; PHOX2A
- ; 600638; TUBB3
- ; 135700; KIF21A
- ; 228900; GDF5
- Fish-eye disease; 136120; LCAT
- ; 612423; KLKB1
- ; 607341; TSC1
- Focal dermal hypoplasia; 305600; PORCN
- ; 229050; SLC46A1
- ; 229070; FSHB
- ; 136520; PAX6
- ; 608161; PRPH2
- Fragile X syndrome; 300624; FMR1
- ; 300623; FMR1
- Frank–ter Haar syndrome; 249420;
- Fraser syndrome; 219000; FRAS1
- Fraser syndrome; 219000; FREM2
- Frasier syndrome; 136680; WT1
- ; 229300; FXN
- Friedreich's ataxia; 229300; FXN
- ; 305620; FLNA
- ; 613451; ALX4
- ; 613456; ALX1
- ; 136760; ALX3
- ; 607485; GRN
- ; 612069; TARDBP
- Fructose intolerance; 229600; ALDOB
- Fructose-1,6-bisphosphatase deficiency; 229700; FBP1
- Fucosidosis; 230000; FUCA1
- ; 228930; WNT7A
- Fumarase deficiency; 606812; FH
- Fundus albipunctatus; 136880; RDH5
- Fundus albipunctatus; 136880; RLBP1
- Fundus flavimaculatus; 248200; ABCA4
- ; 613163; ABAT
- ; 230200; GALK1
- Galactose epimerase deficiency; 230350; GALE
- Galactosemia; 230400; GALT
- Galactosialidosis; 256540; CTSA
- ; 600803; ABCB4
- ; 611465; ABCG8
- GAMT deficiency; 612736; GAMT
- ; 137215; CDH1
- ; 137215; APC
- ; 137215; CASP10
- ; 137215; ERBB2
- ; 137215; FGFR2
- ; 137215; IRF1
- ; 137215; KLF6
- ; 137215; MUTYH
- ; 137215; PIK3CA
- ; 606764; KIT
- ; 606764; PDGFRA
- ; 610539; PSAP
- ; 608013; GBA
- ; 230800; GBA
- ; 230900; GBA
- ; 231000; GBA
- ; 231005; GBA
- ; 607313; ROBO3
- ; 231050;
- ; 609446; KCNMA1
- Generalized epilepsy with febrile seizures plus; 604233; SCN1B
- Germ cell tumors; 273300; KIT
- Geroderma osteodysplasticum; 231070; SCYL1BP1
- Gerstmann–Sträussler–Scheinker syndrome; 137440; PRNP
- ; 231095; TBXAS1
- ; 256850; GAN
- Gillespie syndrome; 206700; PAX6
- Gitelman syndrome; 263800; SLC12A3
- ; 273800; ITGA2B
- ; 613100;
- ; 137760; OPTN
- ; 609887; WDR36
- Glaucoma 1A, primary open angle, juvenile-onset; 137750; MYOC
- ; 137760;
- ; 613086; LTBP2
- ; 231300; CYP1B1
- ; 137760; CYP1B1
- Glaucoma, primary open angle, juvenile-onset; 137750; CYP1B1
- ; 137800; ERBB2
- Globozoospermia; 102530; GOPC
- Globozoospermia; 102530; SPATA16
- ; 609886; UMOD
- ; 601894; FN1
- ; 603278; ACTN4
- ; 603965; TRPC6
- ; 607832; CD2AP
- ; 613237; INF2
- ; 138000;
- ; 607398; MRAP
- ; 202200; MC2R
- Glucose-galactose malabsorption; 606824; SLC5A1
- ; 606777; SLC2A1
- ; 612126; SLC2A1
- ; 229100; FTCD
- ; 610015;
- ; 231670; GCDH
- ; 231680; ETFA
- ; 231680; ETFB
- ; 231680; ETFDH
- Glutathione synthetase deficiency; 266130;
- Glycerol kinase deficiency; 307030; GK
- Glycine encephalopathy; 605899; AMT
- Glycine encephalopathy; 605899; GCSH
- Glycine encephalopathy; 605899; GLDC
- Glycine N-methyltransferase deficiency; 606664; GNMT
- ; 611556;
- ; 232220; SLC37A4
- ; 232240; SLC37A4
- ; 232240; SLC17A3
- ; 232300; GAA
- ; 300257; LAMP2
- Glycogen storage disease IIIa; 232400; AGL
- Glycogen storage disease IIIb; 232400; AGL
- ; 232500; GBE1
- ; 613027; PHKG2
- ; 261740; PRKAG2
- ; 232800; PFKM
- ; 261670; PGAM2
- ; 612933; LDHA
- ; 611881; ALDOA
- ; 612932; ENO3
- ; 612934; PGM1
- ; 613507; GYG1
- Glycogen storage disease type 0; 240600; GYS2
- ; 306000; PHKA2
- ; 306000; PHKA2
- ; 610293;
- ; 230500; GLB1
- ; 230600; GLB1
- ; 230650; GLB1
- GM2-gangliosidosis, AB variant; 272750; GM2A
- ; 272800; HEXA
- ; 166260; ANO5
- Goldberg–Shpritzen megacolon syndrome; 609460; KIAA1279
- ; 300661; PRPS1
- GRACILE syndrome; 603358; BCS1L
- Greenberg dysplasia; 215140; LBR
- Greig cephalopolysyndactyly syndrome; 175700; GLI3
- Griscelli syndrome type 1; 214450; MYO5A
- Griscelli syndrome type 2; 607624; RAB27A
- Griscelli syndrome type 3; 609227; MLPH
- ; 182230; HESX1
- ; 262400; GH1
- ; 612781; GH1
- ; 612781; GHRHR
- ; 173100; GH1
- ; 245590; STAT5B
- ; 608747; IGF1
- ; 612938; FTO
- ; 176305; HOXA13
- ; 258870; OAT
- ; 209880; ASCL1
- Hailey–Hailey disease; 169600; ATP2C1
- Haim–Munk syndrome; 245010; CTSC
- Hallermann–Streiff syndrome; 234100; GJA1
- Hand-foot-uterus Syndrome; 140000; HOXA13
- Harderoporphyria; 121300; CPOX
- ; 607236; PANK2
- ; 234500; SLC6A19
- Hawkinsinuria; 140350; HPD
- Hay–Wells syndrome; 106260; TP63
- ; 604091; ABCA1
- ; 600965; WFS1
- ; 113900; SCN5A
- ; 113900; SCN5A
- Heinz body anemia; 140700; HBA2
- ; 140700; HBA1
- ; 140700; HBB
- ; 609016; HADHA
- ; 602089; FLT4
- ; 602089; KDR
- ; 162800;
- ; 141200; COL4A3
- Hemiplegic migraine, familial; 141500; CACNA1A
- ; 602390; HJV
- ; 613313; HAMP
- ; 604250; TFR2
- ; 606069; SLC40A1
- ; 612631; AK1
- ; 230450; GCLC
- ; 231900;
- ; 235700; HK1
- ; 613470; GPI
- ; 235400; HF1
- ; 603553; PRF1
- ; 608898; UNC13D
- ; 603552; STX11
- Hemophilia B; 306900; F9
- ; 613490; SERPINA1
- ; 604290; CP
- Hennekam lymphangiectasia-lymphedema syndrome; 235510; CCBE1
- Hepatic adenoma; 142330; HNF1A
- ; 235550; SP110
- Hepatocellular cancer; 114550;
- Hepatocellular carcinoma; 114550; CTNNB1
- Hepatocellular carcinoma; 114550; TP53
- ; 114550; MET
- ; 114550; AXIN1
- ; 114550; CASP8
- ; 114550; PIK3CA
- ; 187300; ENG
- ; 600376; ACVRL1
- ; 601152; MFN2
- ; 606071; TRPV4
- ; 203300; HPS1
- ; 608233; AP3B1
- ; 203300; HPS3
- ; 203300; HPS4
- ; 203300; HPS5
- ; 203300; HPS6
- ; 203300; DTNBP1
- ; 203300;
- ; 306955; ZIC3
- ; 605376; CFC1
- ; 270100; NODAL
- Heterotopia, periventricular; 300049; FLNA
- Heterotopia, periventricular, ED variant; 300537; FLNA
- Hirschsprung's disease; 142623; GDNF
- Hirschsprung's disease; 142623; RET
- ; 142623;
- Histiocytoma, angiomatoid fibrous, somatic; 612160; CREB1
- ; 605911; HMGCS2
- Hodgkin's lymphoma; 236000;
- Holocarboxylase synthetase deficiency; 253270; HLCS
- ; 157170; SIX3
- ; 142945; SHH
- ; 142946; TGIF
- ; 609637; ZIC2
- ; 610828; PTCH1
- ; 610829; GLI2
- Holt–Oram syndrome; 142900; TBX5
- ; 236250; MTHFR
- ; 236200; CBS
- ; 277410;
- ; 236270; MTRR
- Hoyeraal–Hreidarsson syndrome; 300240; DKC1
- ; 300323; HPRT1
- Huntington's disease; 143100; HTT
- ; 603218; PRNP
- ; 606438; JPH3
- Hutchinson–Gilford progeria syndrome; 176670; LMNA
- ; 236490; ANTXR2
- Hydatidiform mole; 231090; NALP7
- ; 300215; ARX
- ; 307000; L1CAM
- ; 307000; L1CAM
- ; 142623; L1CAM
- Hydrolethalus syndrome; 236680; HYLS1
- ; 143470; CETP
- ; 237900; UGT1A1
- ; 115300;
- ; 607748; BAAT
- ; 607748; EPHX1
- ; 607748; TJP2
- ; 144010; APOB
- Hypercholesterolemia, familial; 143890; LDLR
- ; 603776; PCSK9
- ; 603813; LDLRAP1
- ; 143890; APOA2
- ; 144650; APOA5
- ; 300607; ARHGEF9
- Hyperekplexia; 149400; GPHN
- Hyperekplexia; 149400; SLC6A5
- ; 149400; GLRB
- ; 607685; PDGFRA
- Hyperferritinemia-cataract syndrome; 600886; FTL
- ; 612348; PLAT
- ; 138500; SLC36A2
- ; 138500; SLC6A19
- ; 138500; SLC6A20
- Hyper-IgD syndrome; 260920; MVK
- ; 147060; STAT3
- ; 243700; DOCK8
- ; 256450; ABCC8
- ; 601820; KCNJ11
- ; 602485; GCK
- ; 609975; HADHSC
- ; 609968; INSR
- ; 610021; SLC16A1
- Hyperinsulinism-hyperammonemia syndrome; 606762; GLUD1
- ; 613345; SCN4A
- ; 116860; CCM1
- Hyperlipoproteinemia, type Ib; 207750; APOC2
- Hyperlysinemia; 238700; AASS
- ; 250850;
- Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome; 238970; SLC25A15
- ; 144750; LRP5
- ; 259900; AGXT
- ; 260000; GRHPR
- ; 613616; DHDPSL
- ; 145000; MEN1
- ; 145000; HRPT2
- ; 239200; CASR
- ; 145001; HRPT2
- ; 233910; GCH1
- ; 261640; PTS
- ; 261630; QDPR
- ; 264070;
- ; 612391;
- ; 145250; KITLG
- ; 239500; PRODH
- ; 239510; ALDH4A1
- ; 605115; NR3C2
- ; 145500; PNMT
- ; 145500; AGTR1
- ; 145500; PTGIS
- ; 603373; TSHR
- ; 609152; TSHR
- ; 259100; HPGD
- ; 162000; UMOD
- ; 613092; REN
- ; 203400; CYP11B2
- ; 610600; CYP11B2
- Hypoalphalipoproteinemia; 604091; APOA1
- ; 146200; CASR
- ; 145980; CASR
- Hypochondroplasia; 146000; FGFR3
- ; 240800; ABCC8
- ; 146110;
- ; 227200; GNRH1
- Hypogonadotropic hypogonadism; 146110; CHD7
- Hypogonadotropic hypogonadism; 146110; FGFR1
- Hypogonadotropic hypogonadism; 146110; KISS1R
- Hypogonadotropic hypogonadism; 146110; NELF
- Hypogonadotropic hypogonadism; 146110; TAC3
- Hypogonadotropic hypogonadism; 146110; TACR3
- Hypokalemic periodic paralysis type 1; 170400; CACNA1S
- ; 611718; EGF
- Hypomagnesemia with secondary hypocalcemia; 602014; TRPM6
- ; 248250; CLDN16
- ; 248190; CLDN19
- ; 154020; FXYD2
- ; 612949; SLC25A12
- ; 146200; PTH
- ; 146200; PTH
- ; 146200;
- ; 146255; GATA3
- ; 241410; TBCE
- ; 146300; ALPL
- ; 241510; ALPL
- ; 241500; ALPL
- ; 307800; PHEX
- ; 241530; SLC34A3
- Hypophosphatemic rickets; 300554; CLCN5
- ; 241520; DMP1
- ; 193100; FGF23
- ; 613312; ENPP1
- Hypoplastic left heart syndrome; 241550; GJA1
- ; 241600; B2M
- ; 300633; AR
- ; 300758;
- ; 275100; TSHB
- ; 225250;
- ; 218700; PAX8
- ; 275200; TSHR
- ; 613102; DSC3
- ; 146520; CDSN
- ; 601553; CDH3
- ; 146550; HR
- ; 604379; LIPH
- ; 611452; P2RY5
- ; 607903; DSG4
- Hypotrichosis-lymphedema-telangiectasia syndrome; 607823; SOX18
- ; 612076; SLC2A9
- ; 220150; SLC22A12
- ; 602540; GJB2
- ; 242100; TGM1
- ; 242100; ALOX12B
- ; 242100; ALOXE3
- Ichthyosis bullosa of Siemens; 146800; KRT2
- ; 308205; MBTPS2
- ; 600962; KRT1
- Ichthyosis prematurity syndrome; 608649; SLC27A4
- Ichthyosis vulgaris; 146700; FLG
- Ichthyosis with confetti; 609165; KRT10
- ; 610765; ST14
- ; 612281;
- ; 607602; KRT1
- ; 607602; KRT10
- ; 242500; ABCA12
- ; 601277; ABCA12
- ; 604777; CYP4F22
- ; 242300; TGM1
- ; 607626; CLDN1
- Ichthyosis, X-linked; 308100; STS
- ; 242600; SLC36A2
- ; 242600; SLC6A19
- ; 242600; SLC6A20
- ; 612782; ORAI1
- ; 612783; STIM1
- ; 610163; CD247
- ; 610798;
- ; 613179; PNP
- ; 608106; UNG
- ; 605258; AICDA
- ; 606843; TNFRSF5
- ; 607594; ICOS
- ; 240500; TNFRSF13B
- ; 613493; CD19
- ; 613494; TNFRSF13C
- ; 613495; MS4A1
- ; 613496; CD81
- ; 612692; CD79B
- ; 300584; IKBKG
- ; 308230; TNFSF5
- Immunodeficiency–centromeric instability–facial anomalies syndrome; 242860; DNMT3B
- ; 304790; FOXP3
- ; 609529; TNFRSF13B
- ; 167320; VCP
- ; 600737; GNE
- ; 605637; MYH2
- ; 308300; IKBKG
- ; 256600; PLA2G6
- ; 612567;
- ; 243000; SCN9A
- ; 256800; NTRK1
- Insomnia, fatal familial; 600072; PRNP
- ; 604367; PPARG
- ; 604367; PPP1R3A
- ; 270450; IGF1R
- ; 612852; IL1RN
- ; 606367; IL2RA
- ; 300048; FLNA
- ; 261000; GIF
- ; 610799; IRAK4
- ; 607676; IRAK4
- ; 601631; FOXC1
- ; 137600; PITX2
- ; 601631; FOXC1
- ; 206200; TMPRSS6
- Isobutyryl-coenzyme A dehydrogenase deficiency; 611283; ACAD8
- Isovaleric acidemia; 243500; IVD
- ; 147750; SALL4
- Jackson–Weiss syndrome; 123150; FGFR1
- Jackson–Weiss syndrome; 123150; FGFR2
- Jalili syndrome; 217080;
- ; 311150; TIMM8A
- ; 612347; KCNE1
- Jervell and Lange-Nielsen syndrome; 220400; KCNQ1
- Johanson–Blizzard syndrome; 243800; UBR1
- ; 213300; INPP5E
- ; 300804; OFD1
- ; 608091; TMEM216
- ; 609583; NPHP1
- ; 610188; CEP290
- ; 610688; TMEM67
- ; 611560; RPGRIP1L
- ; 612291; ARL13B
- ; 612285; CC2D2A
- ; 608629; AHI1
- ; 174900; BMPR1A
- ; 175050;
- ; 147950; FGFR1
- ; 244200; PROKR2
- ; 610628;
- ; 612370; CHD7
- ; 612702; FGF8
- Kanzaki disease; 609242; NAGA
- Karak syndrome; 610217; PLA2G6
- ; 244460; TBCE
- Keratitis; 148190; PAX6
- Keratitis–ichthyosis–deafness syndrome; 148210; GJB2
- Keratoconus; 148300; VSX1
- ; 148350; GJB2
- Keratosis follicularis spinulosa decalvans; 308800; SAT1
- ; 601952; POMP
- ; 148700; DSG1
- ; 612908; DSP
- ; 607654; KRT1
- ; 182000; PIK3CA
- Keutel syndrome; 245150; MGP
- Kindler syndrome; 173650; KIND1
- Kleefstra syndrome; 610253; EHMT1
- ; 118100; GDF6
- Kniest dysplasia; 156550; COL2A1
- ; 267750; COL18A1
- Kowarski syndrome; 262650; GH1
- Krabbe disease; 245200; GALC
- ; 611722; PSAP
- L-2-hydroxyglutaric aciduria; 236792; L2HGDH
- ; 223000; LCT
- ; 223100; MCM6
- ; 245400; SUCLG1
- ; 245349; PDX1
- ; 149730; FGF10
- ; 149730; FGFR3
- ; 160500; MYH7
- Langer mesomelic dysplasia; 249700; SHOX
- Langer mesomelic dysplasia; 249700;
- Laron dwarfism; 262500; GHR
- Larsen syndrome; 150250; FLNB
- Laryngoonychocutaneous syndrome; 245660; LAMA3
- Lathosterolosis; 607330; SC5DL
- LCHAD deficiency; 609016; HADHA
- ; 204000; GUCY2D
- ; 611755; CEP290
- ; 610612;
- ; 612712; RDH12
- ; 613341; LRAT
- ; 204100; RPE65
- ; 604232; SPATA7
- ; 604393; AIPL1
- ; 604537; LCA5
- ; 604169; DTNA
- ; 601493; LDB3
- ; 613424; ACTC1
- ; 613426; MYH7
- ; 601494; TNNT2
- ; 300183; TAZ
- Legius syndrome; 611431; SPRED1
- ; 256000; COX15
- ; 256000;
- ; 256000; NDUFA2
- Leigh syndrome; 256000; BCS1L
- Leigh syndrome; 256000; DLD
- Leigh syndrome; 256000; NDUFS3
- Leigh syndrome; 256000; NDUFS4
- Leigh syndrome; 256000; NDUFS7
- Leigh syndrome; 256000; NDUFS8
- Leigh syndrome; 256000; NDUFV1
- Leigh syndrome; 256000; SDHA
- ; 256000; SURF1
- ; 220111; LRPPRC
- ; 308930; PDHA1
- ; 605839; FH
- ; 308940; COL4A6
- ; 611554; RAF1
- Leopard syndrome; 151100; PTPN11
- Leprechaunism; 246200; INSR
- Léri–Weill dyschondrosteosis; 127300; SHOX
- Leri–Weill dyschondrosteosis; 127300;
- Lesch–Nyhan syndrome; 300322; HPRT1
- ; 607598; ERBB3
- ; 611369; PIP5K1C
- Lethal congenital contracture syndrome 1; 253310;
- ; 613065; BCR
- ; 601626;
- ; 601626; GMPS
- ; 601626; JAK2
- ; 601626; MLF1
- ; 601626; NSD1
- ; 601626; SH3GL1
- ; 601626; AF10
- ; 601626; ARHGEF12
- ; 601626; CEBPA
- ; 601626; FLT3
- ; 601626; KIT
- ; 601626; LPP
- ; 601626; NPM1
- ; 601626; NUP214
- ; 601626; PICALM
- ; 601626; RUNX1
- ; 601626; WHSC1L1
- ; 601626; ETV6
- ; 612376; RARA
- ; 608232; BCR
- ; 607785; ARHGAP26
- ; 607785; NF1
- ; 607785; PTPN11
- ; 190685; GATA1
- ; 190685; GATA1
- Leukocyte adhesion deficiency; 116920; ITGB2
- ; 612840;
- ; 169500; LMNB1
- ; 612443; FA2H
- ; 608804; GJC2
- ; 612233; HSPD1
- ; 610532;
- ; 611105;
- Leukoencephalopathy with vanishing white matter; 603896; EIF2B1
- Leukoencephalopathy with vanishing white matter; 603896; EIF2B2
- Leukoencephalopathy with vanishing white matter; 603896; EIF2B3
- Leukoencephalopathy with vanishing white matter; 603896; EIF2B5
- ; 612951; RNASET2
- ; 603896; EIF2B4
- ; 176410; LHCGR
- ; 238320; LHCGR
- ; 238320; LHCGR
- ; 158350; PTEN
- Liddle syndrome; 177200; SCNN1B
- Liddle syndrome; 177200; SCNN1G
- Li–Fraumeni syndrome; 151623; CDKN2A
- Li–Fraumeni syndrome; 151623; TP53
- Li–Fraumeni syndrome; 609265; CHEK2
- ; 151623; TP53
- LIG4 syndrome; 606593; LIG4
- Limb-mammary syndrome; 603543; TP63
- ; 246650;
- ; 608594; AGPAT2
- ; 269700; BSCL2
- ; 612526; CAV1
- ; 613327; PTRF
- ; 151660; LMNA
- ; 604367; PPARG
- ; 608709; LMNB2
- ; 201710; STAR
- Lipoid congenital adrenal hyperplasia; 201710;
- Lipoid proteinosis; 247100; ECM1
- ; 611771; APOE
- Lipoprotein lipase deficiency; 238600; LPL
- ; 611603; TUBA1A
- ; 257320; RELN
- ; 300215; ARX
- ; 300067; DCX
- ; 607432; PAFAH1B1
- ; 613070; TRMU
- ; 609192; TGFBR1
- ; 610168; TGFBR2
- ; 608967; TGFBR1
- ; 610380; TGFBR2
- ; 612955;
- ; 613485; KCNJ5
- ; 192500; KCNQ1
- ; 611819; SCN4B
- ; 611820; AKAP9
- ; 603830; SCN5A
- ; 600919; ANK2
- ; 170390; KCNJ2
- ; 611818; CAV3
- Lowe syndrome; 309000; OCRL
- Lujan–Fryns syndrome; 309520; MED12
- Lung cancer; 211980;
- Lung cancer; 211980; RASSF1
- Lung cancer; 211980; KRAS
- Lung cancer; 211980; PPP2R1B
- Lung cancer; 211980;
- ; 211980; MAP3K8
- ; 238320; LHCGR
- Lymphangioleiomyomatosis; 606690; TSC1
- ; 606690; TSC2
- ; 153100; FLT4
- ; 613480; GJC2
- ; 153400; FOXC2
- Lymphedema–distichiasis syndrome; 153400; FOXC2
- ; 605027; PRF1
- ; 605027; RAD54L
- ; 613011; ITK
- ; 300635; BIRC4
- ; 308240; SH2D1A
- Lysinuric protein intolerance; 222700; SLC7A7
- ; 200950; ACP2
- ; 612394; PLOD3
- Machado–Joseph disease; 109150; ATXN3
- ; 613075;
- ; 605309; PTEN
- ; 153550; RPS14
- ; 600208; MYH9
- ; 300367; GATA1
- ; 613112; TUBB1
- Macular corneal dystrophy; 217800; CHST6
- ; 611953; CST3
- ; 153800; ABCA4
- ; 608895; FBLN5
- Macular degeneration juvenile; 248200; CNGB3
- ; 600110; ELOVL4
- ; 169150; PRPH2
- ; 608051; PROM1
- Macular dystrophy, vitelliform; 608161; PRPH2
- Majeed syndrome; 609628;
- ; 608516;
- ; 608516; MDD2
- ; 243060; STK13
- ; 612997; CATSPER1
- Malonyl-CoA decarboxylase deficiency; 248360; MLYCD
- ; 608612; ZMPSTE24
- Mandibuloacral dysplasia; 248370; LMNA
- ; 248500;
- ; 248510; MANBA
- ; 248600; BCKDHA
- ; 248600; BCKDHB
- ; 248600; DBT
- ; 248600; DLD
- Marfan syndrome; 154700; FBN1
- Marinesco–Sjögren syndrome; 248800; SIL1
- Maroteaux–Lamy syndrome, several forms; 253200; ARSB
- Marshall syndrome; 154780; COL11A1
- ; 212720; RAB3GAP2
- MASA syndrome; 303350; L1CAM
- MASS syndrome; 604308; FBN1
- ; 248900; ACP33
- ; 606394; NEUROD1
- ; 613370; INS
- ; 613375; BLK
- ; 612225; PAX4
- ; 610508; KLF11
- ; 609812; CEL
- May–Hegglin anomaly; 155100; MYH9
- McArdle disease; 232600;
- McCune–Albright syndrome; 174800; GNAS
- McKusick–Kaufman syndrome; 236700; MKKS
- ; 608978; WT1
- ; 267010; NPHP3
- ; 611134; CEP290
- ; 249000; MKS1
- ; 607361; TMEM67
- ; 611561; RPGRIP1L
- ; 612284; CC2D2A
- ; 603860; UMOD
- Medullary thyroid carcinoma; 155240; RET
- ; 155240; NTRK1
- Medulloblastoma; 155255; PTCH2
- ; 155255; SUFU
- Meesmann corneal dystrophy; 122100; KRT12
- Meesmann corneal dystrophy; 122100; KRT3
- Megalencephalic leukoencephalopathy with subcortical cysts; 604004; MLC1
- ; 261100; CUBN
- ; 261100; AMN
- ; 155755; CDKN2A
- Melanoma; 609048; CDK4
- ; 155601; CDKN2A
- Meleda disease; 248300; SLURP1
- Melnick–Needles syndrome; 309350; FLNA
- ; 155950; LEMD3
- ; 609814; HF1
- Meningioma; 607174; MN1
- ; 607174; NF2
- Menkes disease; 309400; ATP7A
- Mental retardation and microcephaly with pontine and cerebellar hypoplasia; 300749; CASK
- ; 123450; CTNND2
- ; 300354; CUL4B
- ; 300263; PHF8
- ; 156200;
- ; 612580; CDH15
- ; 612581; KIRREL3
- ; 612621; SYNGAP
- ; 249500;
- ; 613192; TRAPPC9
- ; 607417; CRBN
- ; 608443; CC2D1A
- ; 611093; TUSC3
- ; 611092; GRIK2
- ; 136630; DIP2B
- ; 612652;
- ; 613443; MEF2C
- ; 610156; INPP5E
- ; 309530; IQSEC2
- ; 300705; HSD17B10
- ; 300558; PAK3
- ; 300419; ARX
- ; 300498;
- ; 300210; TM4SF2
- ; 300630; AP1S2
- ; 300659; BRWD3
- ; 300699; GRIA3
- ; 300716; MAGT1
- ; 309541; GDI1
- ; 300387; ACSL4
- ; 300436; ARHGEF6
- ; 300220; HSD17B10
- ; 300243; SLC9A6
- ; 300706; HUWE1
- ; 300143; IL1RAPL1
- ; 300495;
- ; 309548; AFF2
- ; 300260; MECP2
- ; 309583; SMS
- ; 300055; MECP2
- ; 300676; UPF3B
- ; 300534; KDM5C
- ; 300486; OPHN1
- ; 300423; ATP6AP2
- ; 300123; SOX3
- ; 300802; SYP
- ; 300799; ZDHHC9
- ; 300271; RAB39B
- ; 309549; FTSJ1
- ; 300577;
- ; 300639; CUL4B
- ; 309580; ATRX
- ; 609535; CYP2C
- Metachondromatosis; 156250; PTPN11
- ; 249900; PSAP
- Metachromatic leukodystrophy; 250100; ARSA
- ; 602111; MMP13
- ; 613073; MMP9
- Metaphyseal chondrodysplasia, Murk Jansen type; 156400; PTHR1
- ; 250460; RMRP
- ; 156530; TRPV4
- ; 250800; CYB5R3
- ; 250800; CYB5R3
- ; 250790; CYB5A
- ; 250850;
- ; 250940; MTR
- ; 277400; MMACHC
- ; 277410;
- ; 277380; LMBRD1
- ; 613646; CD320
- ; 277410;
- ; 251100; MMAA
- ; 251110; MMAB
- ; 251120;
- Mevalonic aciduria; 610377; MVK
- ; 209920; RFXANK
- ; 610773; SLC25A3
- Microcephalic osteodysplastic primordial dwarfism type II; 210720; PCNT
- ; 602585; MYCN
- ; 607196; SLC25A19
- ; 251200; MCPH1
- ; 251200; MCPH2
- ; 604804; CDK5RAP2
- ; 251200; MCPH4
- ; 608716; ASPM
- ; 608393;
- ; 612703; STIL
- ; 613402; PNKP
- ; 193220; BEST1
- ; 610093; CHX10
- ; 611038; RAX
- ; 613094; GDF6
- ; 611040; MFRP
- ; 212550;
- ; 610426; CRYBA4
- ; 610092; CHX10
- ; 611638; SHH
- ; 300166; BCOR
- ; 206900; SOX2
- ; 610125; OTX2
- ; 607932; BMP4
- ; 309801; HCCS
- ; 601186; STRA6
- ; 612290; HOXA2
- Microvillus inclusion disease; 251850; MYO5B
- ; 602481; ATP1A2
- ; 602481; ATP1A2
- ; 609634; SCN1A
- ; 157300; EDNRA
- Miller syndrome; 264750; DHODH
- ; 255320; RYR1
- ; 157600; DCC
- ; 135750; MIPOL1
- Mismatch repair cancer syndrome; 276300; MLH1
- Mismatch repair cancer syndrome; 276300; MSH2
- Mismatch repair cancer syndrome; 276300; MSH6
- Mismatch repair cancer syndrome; 276300; PMS2
- ; 252010;
- ; 252010; NDUFA1
- ; 252010; NDUFA11
- ; 252010; NDUFAF2
- ; 252010; NDUFAF3
- ; 252010; NDUFAF4
- ; 252010; NDUFS1
- ; 252010; NDUFS2
- ; 252010; NDUFS4
- ; 252010; NDUFV1
- ; 252010; NDUFV2
- Mitochondrial complex II deficiency; 252011; SDHAF1
- ; 124000; BCS1L
- ; 124000; UQCRB
- ; 124000; UQCRQ
- ; 220110; FASTKD2
- ; 612073; SUCLA2
- ; 612075; RRM2B
- ; 251880; C10orf2
- ; 251880; MPV17
- ; 609560; TK2
- ; 251880; DGUOK
- ; 600462; PUS1
- ; 603041;
- ; 252011; SDHA
- ; 613319; ANO5
- Miyoshi myopathy; 254130; DYSF
- ; 603041; POLG
- ; 125850; HNF4A
- ; 125851; GCK
- ; 600496; HNF1A
- ; 606392; IPF1
- Mohr–Tranebjærg syndrome; 304700; TIMM8A
- ; 252150; MOCS1
- ; 252150; MOCS2
- ; 252150; GPHN
- Monilethrix; 158000; KRT81
- Monilethrix; 158000; KRT83
- Monilethrix; 158000; KRT86
- ; 613353; SH3TC2
- Morning glory disc anomaly; 120430; PAX6
- ; 253010; GLB1
- ; 257300; BUB1B
- Mowat–Wilson syndrome; 235730; ZEB2
- Muckle–Wells syndrome; 191900; NLRP3
- ; 252500; GNPTAB
- ; 252600; GNPTAB
- ; 252605;
- Mucolipidosis IV; 252650; MCOLN1
- Mucopolysaccharidosis Ih; 607014; IDUA
- ; 607015; IDUA
- Mucopolysaccharidosis Is; 607016; IDUA
- ; 253000; GALNS
- ; 252940; GNS
- Mucopolysaccharidosis type IX; 601492; HYAL1
- Mucopolysaccharidosis VII; 253220; GUSB
- Muenke syndrome; 602849; FGFR3
- Muir–Torre syndrome; 158320; MLH1
- Muir–Torre syndrome; 158320; MSH2
- Mulibrey nanism; 253250; TRIM37
- ; 158330; WNT4
- ; 150800; FH
- ; 171400; RET
- ; 162300; RET
- ; 610755; CDKN1B
- ; 253290; CHRNA1
- ; 253290; CHRND
- ; 253290; CHRNG
- Multiple sulfatase deficiency; 272200; SUMF1
- ; 612961; FGF9
- ; 300559; PHKA1
- ; 226670; PLEC1
- ; 607855; LAMA2
- ; 613204; ITGA7
- ; 607855; LAMA2
- ; 159000; TTID
- ; 159001; LMNA
- ; 253600; CAPN3
- ; 253601; DYSF
- ; 253700; SGCG
- ; 608099; SGCA
- ; 604286; SGCB
- ; 601287; SGCD
- ; 601954; TCAP
- ; 254110; TRIM32
- ; 608807; TTN
- ; 611307; ANO5
- ; 607801; CAV3
- ; 602771; SEPN1
- ; 254300;
- ; 254300;
- ; 608931; CHRNB1
- ; 608931; CHRNE
- ; 608931;
- ; 608931; RAPSN
- ; 254210; CHAT
- ; 608931; RAPSN
- ; 608930; CHRNA1
- ; 608930; CHRND
- ; 608930; CHRNE
- ; 601462; CHRNA1
- ; 601462; CHRNB1
- ; 601462; CHRND
- ; 601462; CHRNE
- ; 209950; IFNGR1
- ; 209950; STAT1
- Myelofibrosis, idiopathic; 254450; JAK2
- Myeloperoxidase deficiency; 254600; MPO
- ; 131440; PDGFRB
- ; 607208; GABRG2
- ; 268200; LPIN1
- ; 606437; KCNQ2
- ; 255110; CPT2
- ; 255125; ISCU
- ; 161800; ACTA1
- ; 608810; CRYAB
- ; 160150; DNM2
- ; 160150; MYF6
- ; 255200; BIN1
- ; 612540; CNTN1
- ; 255310; ACTA1
- ; 601419; DES
- ; 606070; MATR3
- ; 606768; DYSF
- ; 611705; TTN
- ; 613076; GFER
- ; 612954; BAG3
- ; 609524; FLNC
- ; 609452; LDB3
- ; 608358; MYH7
- ; 161800; ACTA1
- ; 603689; TTN
- ; 300718; FHL1
- ; 300717; FHL1
- ; 182920; TTID
- ; 300696; FHL1
- ; 255600; COL6A2
- ; 609200; TTID
- ; 608390; SCN4A
- ; 160800; CLCN1
- ; 255700; CLCN1
- Myotonic dystrophy; 160900; DMPK
- ; 602668; ZNF9
- ; 310400; MTM1
- Myxoid liposarcoma; 613488; DDIT3
- ; 255960; PRKAR1A
- ; 310465;
- N-Acetylglutamate synthase deficiency; 237310; NAGS
- Naegeli–Franceschetti–Jadassohn syndrome; 161000; KRT14
- Nail–patella syndrome; 161200; LMX1B
- Nance–Horan syndrome; 302350; NHS
- ; 161400; HCRT
- Nasopharyngeal carcinoma; 607107; TP53
- ; 221770; TREM2
- ; 221770; TYROBP
- Naxos disease; 601214; JUP
- ; 609284; TPM3
- ; 256030;
- ; 610687; CFL2
- Nemaline myopathy; 609285; TPM2
- Nemaline myopathy, Amish type; 605355; TNNT1
- ; 300539; AVPR2
- ; 310468; CLCN5
- ; 612286; SLC34A1
- ; 612287; SLC9A3R1
- ; 256100; NPHP1
- ; 602088; INVS
- ; 604387; NPHP3
- ; 606966; NPHP4
- ; 611498; GLIS2
- ; 609057; CD151
- ; 609049; LAMB2
- ; 256300; NPHS1
- ; 600995; PDCN
- ; 610725; PLCE1
- ; 256370; WT1
- Netherton syndrome; 256500; SPINK5
- Neural tube defect; 182940;
- Neuroblastoma; 256700; NME1
- ; 613068; FOLR1
- Neurodegeneration with brain iron accumulation 1; 234200; PANK2
- ; 610217; PLA2G6
- ; 606159; FTL
- Neuroepithelioma; 612219; EWSR1
- ; 162210; NF1
- Neurofibromatosis type 1; 162200; NF1
- Neurofibromatosis type 2; 101000; NF2
- Neurofibromatosis-Noonan syndrome; 601321; NF1
- ; 117000; RYR1
- ; 613376; HSPB3
- ; 604320; IGHMBP2
- ; 605253; EGR2
- ; 605253; MPZ
- ; 158590; HSPB8
- ; 608634; HSPB1
- ; 600794; BSCL2
- ; 600794; GARS
- ; 607641; DCTN1
- ; 162400; SPTLC1
- ; 201300; WNK1
- ; 613115;
- ; 608654; NGFB
- ; 256840; CCT5
- ; 613640; SPTLC2
- ; 162500; PMP22
- ; 610717; PNPLA2
- ; 607847; GFI1
- ; 202700;
- ; 613107; GFI1
- ; 610738; HAX1
- ; 612541; G6PC3
- ; 300299; WAS
- Neutrophil immunodeficiency syndrome; 608203; RAC2
- ; 162830; CSF3R
- Nevo syndrome; 601451;
- ; 162900; PIK3CA
- ; 600648; KRT10
- ; 162900; FGFR3
- ; 607476; RLBP1
- ; 257200; SMPD1
- ; 607616; SMPD1
- ; 257220; NPC1
- ; 607625; NPC2
- ; 257220; NPC1
- ; 163500; PDE6B
- ; 610444; GNAT1
- ; 310500;
- ; 257270; GRM6
- ; 610427;
- ; 613216; TRPM1
- ; 300071; CACNA1F
- ; 610445; RHO
- Nijmegen breakage syndrome; 251260; NBS1
- ; 613078; RAD50
- Nonaka myopathy; 605820; GNE
- ; 605027; CASP10
- ; 211980; EGFR
- ; 211980; IRF1
- ; 211980; PIK3CA
- ; 163950; PTPN11
- ; 609942; KRAS
- ; 610733; SOS1
- ; 611553; RAF1
- ; 613224; NRAS
- ; 607721; SHOC2
- Norrie disease; 310600; NDP
- Norum disease; 245900; LCAT
- ; 310700; FRMD7
- ; 300814; GPR143
- ; 600955; PCSK1
- ; 609734; POMC
- ; 601665; MC4R
- ; 601665; NR0B2
- ; 601665; PPARG
- ; 601665; SIM1
- Occipital horn syndrome; 304150; ATP7A
- ; 300500; GPR143
- Oculoauricular syndrome; 612109;
- ; 606574; SLC45A2
- Oculodentodigital dysplasia; 164200; GJA1
- ; 257850; GJA1
- Oculopharyngeal muscular dystrophy; 164300; PABPN1
- ; 146300; ALPL
- ; 257980; WNT10A
- Ogden syndrome; 300855;
- ; 258100; SAG
- ; 613411; GRK1
- OI type II; 166210; COL1A1
- OI type III; 259420; COL1A1
- OI type IV; 166220; COL1A1
- ; 608615; AXIN2
- Omenn syndrome; 603554; DCLRE1C
- Omenn syndrome; 603554; RAG1
- Omenn syndrome; 603554; RAG2
- ; 258315; GPC6
- ; 300000; MID1
- Opitz–Kaveggia syndrome; 305450; MED12
- ; 609535; CYP2C
- Optic atrophy 1; 165500; OPA1
- ; 165300; OPA3
- ; 125250; OPA1
- ; 612989; TMEM126A
- ; 120330; PAX2
- ; 206900; SOX2
- Optic nerve hypoplasia; 165550; PAX6
- ; 311200; OFD1
- Ornithine transcarbamylase deficiency; 311250; OTC
- ; 600625; BMP4
- ; 608874; MSX1
- ; 608864; IRF6
- ; 225060;
- ; 129400; TP63
- Orthostatic intolerance; 604715; SLC6A2
- ; 166350; GNAS
- ; 602475; ENPP1
- ; 604864; COL2A1
- ; 165800; ACAN
- ; 166200; COL1A1
- ; 166210; COL1A2
- ; 610854; CRTAP
- ; 259420; COL1A2
- ; 166220; COL1A2
- ; 259440; PPIB
- ; 610698; FKBP10
- ; 610682; CRTAP
- ; 610915; LEPRE1
- ; 166250; FGFR1
- ; 174810; TNFRSF11A
- ; 300373; FAM123B
- ; 607634; LRP5
- ; 166600; CLCN7
- ; 259710; TNFSF11
- ; 259730; CA2
- ; 611490; CLCN7
- ; 259720; OSTM1
- ; 611497; PLEKHM1
- ; 612301; TNFRSF11A
- ; 259700; TCIRG1
- Osteopoikilosis; 166700; LEMD3
- ; 166710; VDR
- ; 259770; LRP5
- Osteosarcoma; 259500;
- Osteosarcoma; 259500; RB1
- Osteosarcoma; 259500; TP53
- ; 259500; CHEK2
- Osteosclerosis; 144750; LRP5
- ; 166780; EYA1
- Otopalatodigital syndrome, type I; 311300; FLNA
- ; 304120; FLNA
- Otospondylomegaepiphyseal dysplasia; 215150; COL11A2
- Ovarian cancer; 167000; CTNNB1
- ; 604370; AKT1
- ; 604370; PIK3CA
- ; 233300; FSHR
- ; 300510; BMP15
- Ovarian hyperstimulation syndrome; 608115; FSHR
- ; 276400; FSHR
- Ovarioleukodystrophy; 603896; EIF2B2
- Ovarioleukodystrophy; 603896; EIF2B4
- Ovarioleukodystrophy; 603896; EIF2B5
- Pachyonychia congenita Jackson Lawler type; 167210; KRT17
- Pachyonychia congenita Jackson Lawler type; 167210; KRT6B
- ; 167200; KRT16
- ; 167200; KRT6A
- Paget disease of bone; 602080;
- Paget disease of bone; 602080; SQSTM1
- Paget disease of bone; 602080; TNFRSF11A
- ; 239000; TNFRSF11B
- Pallister–Hall syndrome; 146510; GLI3
- ; 610644; RSPO1
- ; 610644; RSPO1
- ; 600962; KRT16
- ; 613000; KRT16
- ; 144200; KRT16
- ; 260370; IPF1
- Pancreatic cancer; 260350; TP53
- Pancreatic cancer; 613347; BRCA2
- ; 606719; CDKN2A
- ; 260350; KRAS
- Pancreatitis, hereditary; 167800; PRSS1
- Pancreatitis, hereditary; 167800; SPINK1
- ; 312000; SOX3
- Papillon–Lefèvre syndrome; 245000; CTSC
- ; 606864; SDHB
- ; 606864; SDHC
- ; 606864; SDHD
- ; 115310; SDHB
- ; 601650; SDHAF2
- ; 168000; SDHD
- ; 605373; SDHC
- Paramyotonia congenita; 168300; SCN4A
- ; 145001; HRPT2
- Parathyroid carcinoma; 608266; HRPT2
- ; 168500; MSX2
- ; 609597; ALX4
- ; 168550; MSX2
- Parkes Weber syndrome; 608355; RASA1
- ; 607688;
- ; 610297; HTRA2
- ; 260300; FBXO7
- ; 605543; SNCA
- ; 605909; PINK1
- ; 606324; DJ1
- ; 606693; ATP13A2
- ; 600116; PRKN
- ; 607060; LRRK2
- ; 613135; SLC6A3
- Paroxysmal extreme pain disorder; 167400; SCN9A
- ; 300818; PIGA
- Paroxysmal nonkinesigenic dyskinesia; 118800; MR1
- ; 309510; ARX
- ; 609136; SOX10
- ; 609796; TGM5
- Pelger–Huët anomaly; 169400; LBR
- Pelizaeus–Merzbacher disease; 312080; PLP1
- Pendred syndrome; 274600; SLC26A4
- Pentosuria; 260800; DCXR
- ; 142680; TNFRSF1A
- ; 170650; CTSC
- ; 608097; ARFGEF2
- ; 264470; ACOX1
- ; 168605; DCTN1
- ; 261550; AMH
- ; 261550; AMHR2
- Persistent truncus arteriosus; 217095;
- Peters anomaly; 604229; CYP1B1
- Peters anomaly; 604229; PAX6
- Peters anomaly; 604229; PITX2
- Peters-plus syndrome; 261540;
- Peutz–Jeghers syndrome; 175200; STK11
- Pfeiffer syndrome; 101600; FGFR1
- Pfeiffer syndrome; 101600; FGFR2
- Phenylketonuria; 261600; PAH
- Pheochromocytoma; 171300; KIF1B
- Pheochromocytoma; 171300; RET
- Pheochromocytoma; 171300; SDHB
- Pheochromocytoma; 171300; SDHD
- Pheochromocytoma; 171300; VHL
- ; 601815; PHGDH
- ; 300653; PGK1
- ; 300661; PRPS1
- ; 261750; PHKB
- ; 610992; PSAT1
- Pick disease; 172700; MAPT
- Pick disease; 172700; PSEN1
- Piebaldism; 172800; SNAI2
- ; 609049; LAMB2
- ; 610489; PRKAR1A
- ; 610475; PDE11A
- ; 172870; CRB1
- Pilomatricoma; 132600; CTNNB1
- ; 610042; CNTNAP2
- Pitt–Hopkins syndrome; 610954; TCF4
- ; 219090; AIP
- ; 102200; AIP
- ; 600634; AIP
- ; 613038; POU1F1
- ; 262600; PROP1
- ; 221750; LHX3
- ; 262700; LHX4
- ; 182230; HESX1
- ; 144200; KRT1
- ; 613329; PAI1
- ; 601399; RUNX1
- ; 608404; CD36
- Pleuropulmonary blastoma; 601200; DICER1
- ; 173600; FLCN
- ; 604173;
- ; 263200;
- Polycystic kidney disease 2; 613095; PKD2
- ; 173900; PKD1
- Polycystic liver disease; 174050; PRKCSH
- Polycystic liver disease; 174050; SEC63
- Polycystic ovary syndrome; 184700; FST
- Polycythemia vera; 263300; JAK2
- ; 263400; VHL
- ; 174200; GLI3
- ; 174500; LMBR1
- ; 174700; GLI3
- ; 611087;
- ; 613180; TUBA8
- ; 610031;
- Polymicrogyria, bilateral frontoparietal; 606854; GPR56
- ; 610069; BMPR1A
- ; 174900; BMPR1A
- ; 174900;
- ; 607596; VRK1
- ; 277470; TSEN54
- ; 612389; TSEN2
- ; 612390; TSEN34
- ; 225753; TSEN54
- ; 611523;
- Popliteal pterygium syndrome; 119500; IRF6
- POR deficiency; 201750; POR
- Porencephaly; 175780; COL4A1
- ; 175900; SART3
- Porphyria cutanea tarda; 176100; UROD
- Porphyria variegata; 176200; PPOX
- ; 612740; ALAD
- Porphyria, acute intermittent; 176000; HMBS
- ; 176000; HMBS
- Porphyria, congenital erythropoietic; 263700; UROS
- Porphyria, hepatoerythropoietic; 176100; UROD
- Prader–Willi syndrome; 176270; NDN
- Prader–Willi syndrome; 176270; SNRPN
- ; 176400; KISS1R
- ; 176410; LHCGR
- ; 606858; MCPH1
- ; 300604;
- ; 608996; FOXL2
- ; 300510; BMP15
- ; 611548; NOBOX
- ; 612310; FIGLA
- ; 612964; NR5A1
- Premature ovarian failure; 300511; DIAPH2
- ; 606353; ALS2
- ; 606688; PRNP
- ; 264080; PGR
- ; 609283; SLC25A4
- ; 609286; C10orf2
- ; 610131; POLG2
- ; 613077; RRM2B
- ; 157640; POLG
- ; 258450; POLG
- ; 604559; TRPM4
- ; 609535; CYP2C
- Prolidase deficiency; 170100; PEPD
- ; 225790; FLVCR2
- ; 312060;
- ; 606054; PCCA
- ; 606054; PCCB
- ; 601518; RNASEL
- Prostate cancer; 176807; BRCA2
- ; 176807; MSR1
- ; 603688; EPHB2
- ; 176807; KLF6
- ; 176807; MAD1L1
- ; 308990; CLCN5
- ; 177000; FECH
- ; 177000; FECH
- ; 300752; ALAS2
- ; 300004; ARX
- Pseudoachondroplasia; 177170; COMP
- ; 264300; HSD17B3
- ; 177720; PIEZO1
- ; 177735; NR3C2
- ; 145260; WNK4
- ; 264350; SCNN1A
- ; 264350; SCNN1B
- ; 264350; SCNN1G
- ; 145260; WNK1
- ; 103580; GNAS
- ; 603233; GNAS
- ; 612462; GNAS
- ; 603233;
- ; 603233; STX16
- Pseudovaginal perineoscrotal hypospadias; 264600; SRD5A2
- Pseudoxanthoma elasticum; 264800; ABCC6
- ; 177850; ABCC6
- ; 610842; GGCX
- ; 178300;
- Pulmonary alveolar microlithiasis; 265100; SLC34A2
- Pulmonary alveolar proteinosis; 300770; CSF2RA
- ; 178500; SFTPA2
- ; 178600; BMPR2
- ; 178600;
- ; 178600; BMPR2
- Pulmonary veno occlusive disease; 265450; BMPR2
- Pycnodysostosis; 265800; CTSK
- ; 612260; MYD88
- ; 604416; PSTPIP1
- ; 610090; PNPO
- Pyropoikilocytosis; 266140; SPTA1
- Pyruvate carboxylase deficiency; 266150; PC
- Pyruvate dehydrogenase deficiency; 312170; PDHA1
- ; 245348; DLAT
- ; 608782;
- Pyruvate kinase deficiency; 266200; PKLR
- Rabson–Mendenhall syndrome; 262190; INSR
- ; 605432; HOXA11
- Raine syndrome; 259775; FAM20C
- RAPADILINO syndrome; 266280; RECQL4
- Rapp–Hodgkin syndrome; 129400; TP63
- ; 612042;
- Refsum disease; 266500; PEX7
- Refsum disease; 266500; PHYH
- Refsum disease, infantile form; 266510; PEX26
- Refsum disease, infantile form; 266510; PXMP3
- ; 266510; PEX1
- ; 191830; UPK3A
- Renal agenesis; 191830; RET
- ; 144700; FLCN
- Renal cell carcinoma; 144700; DIRC2
- Renal cell carcinoma; 144700; HNF1A
- Renal cell carcinoma; 144700; RNF139
- ; 144700; OGG1
- ; 605074; PRCC
- ; 605074; TFE3
- ; 605074; MET
- ; 144700; VHL
- Renal cysts and diabetes syndrome; 137920; HNF1B
- Renal glucosuria; 233100; SLC5A2
- ; 267300;
- ; 179800; SLC4A1
- ; 611590; SLC4A1
- ; 602722; ATP6V0A4
- ; 604278; SLC4A4
- ; 267430; ACE
- ; 267430; AGT
- ; 267430; AGTR1
- ; 267430; REN
- Renal-hepatic-pancreatic dysplasia; 208540; NPHP3
- Renpenning syndrome; 309500; PQBP1
- ; 275210; ZMPSTE24
- Reticular dysgenesis; 267500; AK2
- ; 610024;
- ; 610356; KCNV2
- ; 610478; CACNA2D4
- ; 605670; C1QTNF5
- ; 248200; ABCA4
- ; 613341; LRAT
- ; 610359; SNRNP200
- ; 613464; TTC8
- ; 613428;
- ; 613575; ARL6
- ; 613617;
- ; 613194; BEST1
- ; 608133; PRPH2
- ; 613341; LRAT
- ; 268000; SPATA7
- ; 268000; CRX
- ; 300455; RPGR
- ; 180100; RP1
- ; 180105; IMPDH1
- ; 600138; PRPF31
- ; 600105; CRB1
- ; 600059; PRPF8
- ; 600132; TULP1
- ; 600852; CA4
- ; 601414;
- ; 601718; ABCA4
- ; 312600; RP2
- ; 602772; EYS
- ; 608380;
- ; 300029; RPGR
- ; 607921; FSCN2
- ; 609923; TOPORS
- ; 610282; SEMA4A
- ; 610599; PRCD
- ; 611131; NR2E3
- ; 268000; MERTK
- ; 268000; USH2A
- ; 612095; PROM1
- ; 612943; KLHL7
- ; 268000; CNGB1
- ; 613194; BEST1
- ; 608133; PRPH2
- ; 180104; RP9
- ; 136880; PRPH2
- ; 136880; RLBP1
- Retinopathy of prematurity; 133780; FZD4
- Rett syndrome; 312750; MECP2
- ; 613454;
- ; 312750; MECP2
- Revesz syndrome; 268130; TINF2
- Reynolds syndrome; 613471; LBR
- ; 609322; SMARCB1
- ; 613325; SMARCA4
- ; 268220; PAX3
- ; 268220; PAX7
- Rhabdomyosarcoma; 268210;
- Rhabdomyosarcoma, alveolar; 268220; FOXO1A
- Rhizomelic chondrodysplasia punctata type 1; 215100; PEX7
- Rhizomelic chondrodysplasia punctata type 3; 600121; AGPS
- Ribose-5-phosphate isomerase deficiency; 608611;
- ; 600081; CYP2R1
- ; 277440; VDR
- RIDDLE syndrome; 611943;
- ; 602482; FOXC1
- ; 180550; PITX2
- ; 606072; CAV3
- ; 606072;
- Roberts syndrome; 268300; ESCO2
- ; 268310; ROR2
- ; 300643; SRPX2
- Rothmund–Thomson syndrome; 268400; RECQL4
- Roussy–Lévy syndrome; 180800; MPZ
- Roussy–Lévy syndrome; 180800; PMP22
- Rubenstein-Taybi syndrome; 180849; CREBBP
- Rubinstein–Taybi syndrome; 180849; EP300
- Saccharopinuria; 268700; AASS
- ; 101400; TWIST1
- Saethre–Chotzen syndrome; 101400; FGFR2
- Saethre–Chotzen syndrome; 101400; TWIST1
- Salla disease; 604369; SLC17A5
- ; 268800; HEXB
- ; 252900; SGSH
- ; 252920; NAGLU
- ; 252930; HGSNAT
- ; 609464; NOD2
- SC phocomelia syndrome; 269000; ESCO2
- ; 300695; FHL1
- ; 181405; TRPV4
- ; 181430; MYH7
- ; 181400; DES
- ; 242900; SMARCAL1
- ; 609241; NAGA
- ; 609241; NAGA
- ; 269150; SETBP1
- Schizencephaly; 269160; EMX2
- Schizophrenia; 181500; DISC2
- ; 269250;
- Schöpf–Schulz–Passarge syndrome; 224750; WNT10A
- Schwannomatosis; 162091; NF2
- ; 255800; HSPG2
- Sclerosteosis; 269500; SOST
- ; 269600; APOE
- ; 605249; MYH9
- ; 610227;
- ; 210600; ATR
- SED congenita; 183900; COL2A1
- ; 605407; TH
- ; 242300; TGM1
- ; 612847; PAPSS2
- ; 606996; NPHP4
- ; 609254; IQCB1
- ; 610189; CEP290
- ; 266900; NPHP1
- ; 602522; BSND
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; 607459; POLG
- Septo-optic dysplasia; 182230; HESX1
- ; 611812; WNT4
- Sertoli cell-only syndrome; 400042; ZNF148
- ; 612780; KCNJ10
- ; 102700; ADA
- ; 611291; NHEJ1
- ; 602450; DCLRE1C
- ; 601457; RAG1
- ; 601457; RAG2
- ; 608971; CD3D
- ; 608971; CD3E
- ; 608971; PTPRC
- ; 608971; IL7R
- ; 300400; IL2RG
- ; 609620; KCNH2
- ; 609621; KCNQ1
- ; 609622; KCNJ2
- ; 263510; DYNC2H1
- Short stature; 604271; GHSR
- ; 300582; SHOX
- ; 300582;
- ; 604271; GHR
- Shprintzen–Goldberg syndrome; 182212; FBN1
- Shwachman–Bodian–Diamond syndrome; 260400; SBDS
- ; 269920; SLC17A5
- ; 256550; NEU1
- ; 256550; NEU1
- Sialuria; 269921; GNE
- ; 608567; SCN5A
- ; 163800; HCN4
- Sickle cell anemia; 603903; HBB
- ; 270685; BSCL2
- Silver–Russell syndrome; 180860; H19
- ; 312870; GPC3
- ; 300209; OFD1
- Sitosterolemia; 210250; ABCG5
- Sitosterolemia; 210250; ABCG8
- Sjögren–Larsson syndrome; 270200; ALDH3A2
- ; 612447; ZBTB16
- ; 607655; DSP
- ; 611742; ASIP
- ; 608236; ARHGEF10
- ; 147891; TBX4
- SMED, Strudwick type; 184250; COL2A1
- Smith–Lemli–Opitz syndrome; 270400; DHCR7
- Smith–Magenis syndrome; 182290; RAI1
- ; 607326; DYM
- ; 193230; KCNJ13
- ; 147250; SHH
- ; 102200; SSTR5
- ; 136900; TIMP3
- Sotos syndrome; 117550; NSD1
- ; 270550; SACS
- ; 607225; ALS2
- ; 604187; KIF5A
- Spastic paraplegia 15; 270700; ZFYVE26
- ; 610250; REEP1
- ; 610244; ZFYVE27
- ; 612020; PNPLA6
- ; 613206; GJC2
- ; 604360; SPG11
- ; 605280; HSPD1
- ; 312920; PLP1
- ; 182600; SPG3A
- ; 182601; SPAST
- ; 612539; SLC33A1
- ; 270800; CYP7B1
- ; 600363; NIPA1
- ; 607259;
- ; 603563; KIAA0196
- Specific granule deficiency; 245480; CEBPE
- ; 602081; FOXP2
- ; 612690; EPB42
- ; 182900; ANK1
- ; 270970; SPTA1
- ; 612653; SLC4A1
- ; 313200; AR
- ; 611067; PLEKHG5
- ; 300489; ATP7A
- ; 182980; VAPB
- ; 301830; UBE1
- ; 253300; SMN1
- ; 253550; SMN1
- ; 253400; SMN1
- ; 271150; SMN1
- ; 604326; PPP2R2B
- ; 605361; PRKCG
- ; 606658; ITPR1
- ; 607136; TBP
- ; 610246; AFG3L2
- ; 117210;
- ; 608768; ATXN8OS
- ; 608768; ATXN8
- ; 607459; POLG
- ; 606937; ZNF592
- ; 610743; SYNE1
- ; 612016; CABC1
- ; 607250; TDP1
- ; 271245; C10orf2
- ; 164400; ATXN1
- ; 603516; ATXN10
- ; 604432; TTBK2
- ; 605259; KCNC3
- ; 183090; ATXN2
- ; 609307; FGF14
- ; 600224; SPTBN2
- ; 183086; CACNA1A
- ; 164500; ATXN7
- ; 225300; WNT10B
- ; 605289; TP63
- ; 272460; FLNB
- ; 612350;
- ; 608681; MESP2
- ; 609813; LFNG
- ; 277300; DLL3
- ; 122600; GDF6
- Spondyloepimetaphyseal dysplasia; 608728; MATN3
- ; 612813; ACAN
- ; 602111; MMP13
- ; 208230; WISP3
- ; 313400; TRAPPC2
- ; 143095;
- ; 608361; ACAN
- ; 613330; NKX3-2
- ; 271665; DDR2
- ; 184252; TRPV4
- Spondyloperipheral dysplasia; 271700; COL2A1
- ; 275355; ING1
- ; 275355; TNFRSF10B
- ; 184460; NOG
- STAR syndrome; 300707;
- ; 600110; ELOVL4
- ; 603786; PROM1
- ; 248200; ABCA4
- ; 149400; GLRA1
- Steatocystoma multiplex; 184500; KRT17
- ; 108300; COL2A1
- ; 604841; COL11A1
- ; 184840; COL11A2
- Stiff skin syndrome; 184900; FBN1
- ; 300434;
- Stomach cancer; 137215; KRAS
- ; 185000;
- ; 609161; PDE8B
- ; 271930; NUP62
- ; 601559; LIFR
- ; 300067; DCX
- Succinic semialdehyde dehydrogenase deficiency; 271980; ALDH5A1
- Succinyl-CoA:3-oxoacid CoA transferase deficiency; 245050; OXCT1
- ; 222900; SI
- ; 608800; TSPYL1
- Sulfite oxidase deficiency; 272300;
- ; 260540; MAPT
- Supranuclear palsy, progressive; 601104; MAPT
- Supravalvar aortic stenosis; 185500; ELN
- ; 265120; SFTPB
- ; 610913; SFTPC
- ; 610921; ABCA3
- ; 108985; TEAD1
- ; 185800; GDF5
- ; 185800; NOG
- ; 186100; GJA1
- ; 186200; LMBR1
- ; 186300; HOXD13
- ; 186500; NOG
- ; 186000; HOXD13
- ; 608180; FBLN1
- ; 186000; HOXD13
- Tangier disease; 205400; ABCA1
- ; 311900; RBM10
- ; 186570; NOG
- Tay–Sachs disease; 272800; HEXA
- ; 601705; FOXN1
- Testicular microlithiasis; 610441; SLC34A2
- ; 273300; STK11
- ; 273395; WNT3
- Tetralogy of Fallot; 187500; GDF1
- Tetralogy of Fallot; 187500; JAG1
- Tetralogy of Fallot; 187500; ZFPM2
- Tetrology of Fallot; 187500;
- ; 604131; HBA2
- ; 604131; LCRB
- ; 603902; HBB
- ; 604131; HBA1
- ; 604131; HBB
- ; 187600; FGFR3
- ; 249270; SLC19A2
- ; 612921; OBSL1
- Thrombocythemia, essential; 187950; JAK2
- Thrombocythemia, essential; 187950; MPL
- Thrombocythemia, essential; 187950; THPO
- ; 612004; CYCS
- ; 314050; GATA1
- ; 604498; MPL
- ; 313900; WAS
- ; 313900; WAS
- ; 188000;
- Thrombocytopenic purpura, autoimmune; 188030; FCGR2C
- ; 613116; HRG
- ; 612356;
- ; 613116; HRG
- ; 176860; PROC
- ; 612304; PROC
- ; 612336; PROS1
- ; 612348; PLAT
- ; 300807; F9
- ; 236200; CBS
- ; 274150; ADAMTS13
- ; 607200; DUOX2
- Thyroid carcinoma, follicular; 188470; MINPP1
- Thyroid carcinoma, follicular; 188470; NRAS
- ; 188550; GOLGA5
- ; 188550; NCOA4
- ; 188550; PCM1
- ; 188550; PRKAR1A
- ; 188550; TRIM24
- ; 188550; TRIM33
- ; 274400; SLC5A5
- ; 274500; TPO
- ; 274700; TG
- ; 274800; IYD
- ; 274900;
- ; 609698; SECISBP2
- Thyroid hormone resistance; 188570; THRB
- ; 274300; THRB
- ; 145650; THRB
- Thyroid papillary carcinoma; 188550; CCDC6
- ; 600334; TTN
- Tietz albinism-deafness syndrome; 103500; MITF
- Timothy syndrome; 601005; CACNA1C
- ; 300622;
- ; 607523; COL7A1
- ; 106600; MSX1
- ; 604625; PAX9
- ; 613097; LTBP3
- ; 313500; ED1
- ; 259600; MMP2
- Tourette syndrome; 137580; SLITRK1
- ; 107480; SALL1
- Townes–Brocks syndrome; 107480; SALL1
- Transaldolase deficiency; 606003;
- ; 275350;
- ; 131705; COL7A1
- ; 608808;
- ; 154500; TCOF1
- ; 612119;
- Trichodentoosseous syndrome; 190320; DLX3
- ; 601606;
- ; 190350; TRPS1
- ; 190351; TRPS1
- Trichothiodystrophy; 601675; ERCC2
- Trichothiodystrophy; 601675; ERCC3
- ; 601675; GTF2H5
- ; 234050; C7orf11
- Trichotillomania; 613229; SLITRK1
- Trifunctional protein deficiency; 609015; HADHA
- Trifunctional protein deficiency; 609015; HADHB
- Trigonocephaly; 190440; FGFR1
- Trimethylaminuria; 602079; FMO3
- ; 174500; LMBR1
- ; 174500; LMBR1
- ; 158300; MYH8
- ; 608189; SPINK1
- Troyer syndrome; 275900; SPG20
- ; 191100; TSC1
- ; 191100; TSC2
- ; 610455; SAMD9
- ; 211900; KL
- ; 211900; FGF23
- ; 211900; GALNT3
- ; 611521; TYK2
- Tyrosinemia type II; 277660; TAT
- Tyrosinemia type III; 276710; HPD
- Ullrich congenital muscular dystrophy; 254090; COL6A1
- Ullrich congenital muscular dystrophy; 254090; COL6A2
- Ullrich congenital muscular dystrophy; 254090; COL6A3
- ; 276820; WNT7A
- Ulnar–mammary syndrome; 181450; TBX3
- Urocanase deficiency; 276880;
- Urofacial syndrome; 236730; HPSE2
- ; 276900; MYO7A
- Usher syndrome, type 1C; 276904; USH1C
- Usher syndrome, type 1D; 601067; CDH23
- ; 601067; CDH23
- ; 601067; PCDH15
- ; 602083; PCDH15
- ; 606943;
- Usher syndrome, type 2A; 276901; USH2A
- Usher syndrome, type 3; 276902; CLRN1
- ; 605472; GPR98
- ; 611383; WHRN
- UV-sensitive syndrome; 600630; ERCC6
- VACTERL association; 192350; HOXD13
- Van Buchem disease; 239100; SOST
- ; 607636; LRP5
- van der Woude syndrome; 119300; IRF6
- ; 192315; TREX1
- ; 276950; PTEN
- Velocardiofacial syndrome; 192430; TBX1
- ; 600195; TEK
- ; 603829; SCN5A
- ; 612956; DPP6
- ; 604772; RYR2
- ; 611938; CASQ2
- ; 192605; GNAI2
- ; 192950; HOXD10
- ; 610878; ROBO2
- VEXAS; 301054; UBA1
- ; 264700; CYP27B1
- ; 607473; VKORC1
- ; 277450; GGCX
- ; 608161; BEST1
- ; 193220; BEST1
- VLCAD deficiency; 201475; ACADVL
- ; 604117; LOR
- Vohwinkel syndrome; 124500; GJB2
- ; 193300; CCND1
- von Hippel–Lindau syndrome; 193300; VHL
- ; 193400; VWF
- ; 277480; VWF
- ; 177820; GP1BA
- Waardenburg syndrome type 1; 193500; PAX3
- Waardenburg syndrome type 2D; 608890; SNAI2
- ; 611584; SOX10
- Waardenburg syndrome type 3; 148820; PAX3
- Waardenburg syndrome type 4A; 277580; EDNRB
- Waardenburg syndrome type 4B; 613265; EDN3
- Waardenburg syndrome type 4C; 613266; SOX10
- Waardenburg syndrome type IIA; 193510; MITF
- ; 103470; TYR
- ; 103470; MITF
- ; 143200; VCAN
- ; 600118; RAB3GAP1
- Warfarin resistance; 122700; VKORC1
- ; 122700; CYP2C9
- Warsaw breakage syndrome; 613398; DDX11
- Watson syndrome; 193520; NF1
- Weaver syndrome; 277590; NSD1
- Weill–Marchesani syndrome, dominant; 608328; FBN1
- Weill–Marchesani syndrome, recessive; 277600; ADAMTS10
- ; 613195; ADAMTS17
- Weissenbacher–Zweymüller syndrome; 277610; COL11A2
- Werner syndrome; 277700; RECQL2
- ; 193530; EVC
- WHIM syndrome; 193670; CXCR4
- White sponge nevus; 193900; KRT13
- White sponge nevus; 193900; KRT4
- ; 194071; H19
- Wilms' tumor; 194070; BRCA2
- ; 194070; GPC3
- ; 194070; WT1
- Wilson's disease; 277900; ATP7B
- Wiskott–Aldrich syndrome; 301000; WAS
- Witkop syndrome; 189500; MSX1
- Wolcott–Rallison syndrome; 226980; EIF2AK3
- Wolff–Parkinson–White syndrome; 194200; PRKAG2
- Wolfram syndrome 2; 604928; CISD2
- Wolfram syndrome; 222300; WFS1
- ; 222300; WFS1
- Wolman disease; 278000;
- Woodhouse–Sakati syndrome; 241080;
- ; 194300; KRT74
- ; 278150; P2RY5
- ; 604379; LIPH
- Wrinkly skin syndrome; 278250; ATP6V0A2
- ; 278300; XDH
- Xeroderma pigmentosum group A; 278700; XPA
- Xeroderma pigmentosum group B; 610651; ERCC3
- Xeroderma pigmentosum group C; 278720; XPC
- Xeroderma pigmentosum group D; 278730; ERCC2
- ; 278740; DDB2
- Xeroderma pigmentosum group F; 278760; ERCC4
- Xeroderma pigmentosum group G; 278780; ERCC5
- Xeroderma pigmentosum, variant type; 278750; POLH
- ; 610965; ERCC4
- ; 300087; XIC
- Zellweger syndrome; 214100; PEX10
- Zellweger syndrome; 214100; PEX13
- Zellweger syndrome; 214100; PEX14
- Zellweger syndrome; 214100; PEX26
- Zellweger syndrome; 214100; PEX5
- Zellweger syndrome; 214100;
- ; 214100; PEX3
- ; 214100; PEX1
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