All diseases

4 entries on 1 page. Showing entries 1 - 4.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00156 CSS syndrome, Coffin-Siris (CSS) - - 226 189 ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCE1, SOX11 - -
05385 CSS1;MRD12 syndrome, Coffin-Siris, type 1 (CSS1, mental retardation, autosomal dominant, type 12 (MRD12)) 135900 AD 8 7 ARID1B - autosomal dominant
00139 ID intellectual disability (ID) - - 2099 1812 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 537 more - -
00799 MRD-12 mental retardation, autosomal dominant, type 12 (MRD-12) 614562 - 1 1 ARID1B - -
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