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
00908 AML leukemia, myeloid, acute (AML) 601626 - 43 28 CBFB, CEBPA, CHIC2, ETV6, FLT3, GATA2, JAK2, KIT, KRAS, LPP, MLF1, MLLT10, NPM1, NSD1, NUP214, PICALM, PTPN11, RUNX1, SH3GL1, TERT, WHSC1L1 - -
00231 BWS Beckwith-Wiedemann syndrome (BWS) 130650 AD 51 51 CDKN1C, H19, KCNQ1OT1, NSD1 - -
00139 ID intellectual disability (ID) - - 2334 2032 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 542 more - -
05245 SOTOS Sotos syndrome (SOTOS) - - 50 45 APC2, NFIX, NSD1 - neurological disorder characterized by overgrowth (prenatal stage through childhood), advanced bone age, unusual face with large skull, acromegalic features and pointed chin, occasional brain anomalies, seizures, mental retardation
04599 SOTOS1 Sotos syndrome, type 1 (SOTOS-1) 117550 AD 135 116 NSD1 - -
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