All diseases

8 entries on 1 page. Showing entries 1 - 8.
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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 - -
06168 DFNA69 Deafness, autosomal dominant 69, unilateral or asymmetric 616697 AD - - KITLG - -
00468 FPHH hyperpigmentation, progressive, familial (FPHH) 145250 AD 1 1 KITLG - -
02601 GIST cancer, gastrointestinal stromal (GIST, gastrointestinal stromal tumor) 606764 AD;IC 3 2 KIT, PDGFRA, SDHB, SDHC - -
01427 MASTC mastocytosis (MASTC) 154800 AD 1 1 KIT - -
01506 PBT Piebald trait (PBT) 172800 AD - - KIT, SNAI2 - -
00466 SHEP7 pigmentation, hair, blond/brown, type 7 (SHEP-7, skin/hair/eye pigmentation) 611664 - 1 1 KITLG - -
00602 TGCT tumor, germ cell, testicular (TGCT, spermatocytic seminoma, somatic) 273300 - 7 3 BCL10, FGFR3, KIT, STK11 - -
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