All diseases

9 entries on 1 page. Showing entries 1 - 9.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00347 ARMD macular degeneration, age-related (ARMD) - - 30 34 ABCA4, CFH, FBLN5, HMCN1 - -
01425 ARMD2 macular degeneration, age-related, type 2 (ARMD-2) 153800 AD 1 1 ABCA4 - -
00421 CORD3 dystrophy, cone rod, type 3 (CORD-3) 604116 - 15 13 ABCA4 - -
00156 CSS Coffin-Siris syndrome (CSS) - - 285 255 ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX11 - -
01018 CSS4;MRD16 Coffin-Siris syndrome, type 4 (CSS4, mental retardation, autosomal dominant syndrome, type 16 (MRD16)) 614609 AD 2 2 SMARCA4 - -
00139 ID intellectual disability (ID) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
02387 RP19 retinitis pigmentosa, type 19 (RP19) 601718 AR 8 6 ABCA4 - -
01017 RTPS2 tumor, rhabdoid, predisposition syndrome, type 2 (RTPS-2) 613325 AD 8 8 SMARCA4 - -
00420 STGD1 Stargardt disease, type 1 (STGD1) 248200 AR 3224 3092 ABCA4, CNGB3 - -
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