All diseases

6 entries on 1 page. Showing entries 1 - 6.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
02672 ATFB3 fibrillation, atrial, familial, type 3 (ATFB-3) 607554 AD 1 1 KCNQ1 - -
00231 BWS Beckwith-Wiedemann syndrome (BWS) 130650 AD 51 51 CDKN1C, H19, KCNQ1OT1, NSD1 - -
00139 ID intellectual disability (ID) - - 2357 2055 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 543 more - -
04543 JLNS1 Jervell and Lange-Nielsen syndrome (JLNS-1) 220400 AR 16 16 KCNQ1 - -
00403 LQT1;RWS QT syndrome, long, type 1 (LQT-1, Romano-Ward syndrome (RWS)) 192500 AD 730 731 KCNQ1 - -
02863 SQT2 QT syndrome, short, type 2 (SQT-2) 609621 AD - - KCNQ1 - -
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