GATA2, GATA binding protein 2, 2624

N. diseases: 229; N. variants: 33
Disease: Refractory anaemia with excess blasts ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002894
Disease: Refractory anaemia with excess blasts
Refractory anaemia with excess blasts 		0.020 GeneticVariation disease BEFREE The prevalence of a GATA2 mutation in a consecutively diagnosed cohort of children was 14% in advanced forms of myelodysplastic syndrome (refractory anemia with excess blasts, refractory anemia with excess blasts in transformation, and myelodysplasia-related acute myeloid leukemia), 17% in refractory cytopenia of childhood, and 0% in aplastic anemia. 27013649 2016
CUI: C0002894
Disease: Refractory anaemia with excess blasts
Refractory anaemia with excess blasts 		0.020 GeneticVariation disease BEFREE GATA2 c.1061 C > T; p.T354 M mutation was identified after he progressed from myelodysplastic pancytopenia to refractory anemia with excess blasts type II. 31035956 2019