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
00091 CRC cancer, colorectal, susceptibility to (CRC) 114500 AD;SMu 3065 1838 AKT1, APC, AURKA, AXIN2, BAX, BUB1B, CCND1, CTNNB1, DCC, DLC1, EP300, FGFR3, FLCN, MCC, MLH3, NRAS, NTHL1, ODC1, PDGFRL, PIK3CA, 7 more - -
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 - -
05619 RSTS Rubinstein-Taybi syndrome (RSTS) - - 79 77 CREBBP, EP300 - -
00758 RSTS2 Rubinstein-Taybi syndrome, type 2 613684 AD 9 9 EP300 - intellectual disability (77/80), microcephaly (68/82), long eyelashes (56/69), arched eyebrow (54/77)inferior nasal column (56/73), broad toe (56/79), wide thumb (52/79), high palatal arch (38/66), lateral canthus inferior oblique (43/75), extrauterine growth retardation (51/78)
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