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
00908 AML leukemia, myeloid, acute (AML) 601626 - - - CBFB, CEBPA, CHIC2, ETV6, FLT3, GATA2, JAK2, KIT, KRAS, LPP, MLF1, MLLT10, NPM1, NSD1, NUP214, PICALM, RUNX1, SH3GL1, TERT, WHSC1L1 - -
00231 BWS Beckwith-Wiedemann syndrome (BWS) 130650 - - - CDKN1C, H19, KCNQ1OT1, NSD1 - -
00139 ID intellectual disability (ID) - - - - AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 515 more - -
04599 SOTOS-1 Sotos syndrome, type 1 (SOTOS-1) 117550 - - - NSD1 - -
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