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
00231 BWS Beckwith-Wiedemann syndrome (BWS) 130650 AD 51 51 CDKN1C, H19, KCNQ1OT1, NSD1 - -
02142 EIEE9 encephalopathy, epileptic, early infantile, type 9 (EIEE-9) 300088 XL 42 8 PCDH19 - early infantile epileptic encephalopathy, also known as epilepsy and mental retardation restricted to females (EFMR)
00139 ID intellectual disability (ID) - - 2706 2388 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
00774 WT1 Wilms tumor, type 1, somatic (WT-1, nephroblastoma) 194070 AD;SMu 7 7 BRCA2, GPC3, H19, WT1 - -
00952 WT2 Wilms tumor, type 2 (WT-2) 194071 AD;SMu - - H19 - -
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