GATA2, GATA binding protein 2, 2624

N. diseases: 229; N. variants: 33
Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 GeneticVariation disease BEFREE Germline GATA2 mutations have been identified as the cause of familial syndromes with immunodeficiency and predisposition to myeloid malignancies. 25624456 2015
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 GeneticVariation disease BEFREE Here we reported a case of familial AML-MDS with two novel GATA2 mutations. 24754962 2014
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 Biomarker disease BEFREE At present, four recognized syndromes have Clinical Laboratory Improvement Amendments--certified testing for their respective germ-line mutations: telomere biology disorders due to mutation of TERC or TERT, familial acute myeloid leukemia (AML) with mutated CEBPA, familial MDS/AML with mutated GATA2, and familial platelet disorder with propensity to myeloid malignancy. 24467820 2014