All diseases

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

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00765 CLS Coffin-Lowry syndrome (CLS) 303600 XLD 1 1 RPS6KA3 - X-linked dominant
00351 CMH cardiomyopathy, hypertrophic (CMH) - - 1667 1621 MYH6, RPS6KB1, TCAP - -
00139 ID intellectual disability (ID) - - 2799 2480 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 556 more - -
00766 MRX19 mental retardation, X-linked, type 19 (MRX19) 300844 XLD - - RPS6KA3 - -
05611 NDD neurodevelopmental disorder (NDD) - - 4307 4126 ACBD6, ADARB1, AP1G1, ARFGEF1, ATP9A, CAMK2D, CAMSAP1, CAPRIN1, CASP2, CHASERR, CLCN3, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, EEFSEC, EIF2C1, 89 more - -
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