All diseases

6 entries on 1 page. Showing entries 1 - 6.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00156 CSS Coffin-Siris syndrome (CSS) - - 285 255 ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX11 - -
00756 CSS3;MRD15 Coffin-Siris syndrome, type 3 (CSS3, mental retardation, autosomal dominant syndrome, type 15 (MRD15)) 614608 AD - - SMARCB1 - -
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 - -
00755 RTPS1 tumor, rhabdoid, predisposition syndrome, type 1 (RTPS-1) 609322 - 149 148 SMARCB1 - -
05389 SWNTS Schwannomatosis (SWNTS) - - 89 88 LZTR1, NF2, SMARCB1 - -
00436 SWNTS1 Schwannomatosis, type 1 (SWNTS-1) 162091 - 55 24 SMARCB1 - -
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