GATA2, GATA binding protein 2, 2624

N. diseases: 229; N. variants: 33
Disease: Eosinophilia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060500091
rs1060500091
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C0014457
Disease:
Eosinophilia 		0.010 GeneticVariation BEFREE A L359V substitution within zinc finger domain (ZF) 2 of GATA-2 was found in eight cases with myelomonoblastic features, whereas an in-frame deletion of 6 aa (delta341-346) spanning the C-terminal border of ZF1 was detected in one patient at myeloid BC with eosinophilia. 18250304 2008