All diseases

5 entries on 1 page. Showing entries 1 - 5.

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00156 CSS Coffin-Siris syndrome (CSS) - 220 188 ARID1A, ARID1B, ARID2, SMARCA4, SMARCB1, SMARCE1 - -
00756 CSS-3;MRD-15 Coffin-Siris syndrome, type 3 (CSS-3, mental retardation, autosomal dominant, type 15 (MRD-15)) 614608 0 0 SMARCB1 - -
00755 RTPS-1 tumor, rhabdoid, predisposition syndrome, type 1 (RTPS-1) 609322 149 148 SMARCB1 - -
05389 SWNTS Schwannomatosis (SWNTS) - 87 87 LZTR1, NF2, SMARCB1 - -
00436 SWNTS-1 Schwannomatosis, type 1 (SWNTS-1) 162091 55 24 SMARCB1 - -