GATA2, GATA binding protein 2, 2624

N. diseases: 229; N. variants: 33
Disease: Pancytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.140 GeneticVariation disease BEFREE During the past decade, it became clear that heterozygous germline mutations in the GATA2 gene cause bone marrow failure and primary immunodeficiency syndrome, conditions that lead to a predisposition toward myeloid neoplasms, such as myelodysplastic syndrome, acute myeloid leukemia, and chronic myelomonocytic leukemia. 31675473 2020
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.140 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
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.140 GeneticVariation disease BEFREE Germline GATA2 Mutation and Bone Marrow Failure. 30047422 2018
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.140 Biomarker disease BEFREE MonoMAC appears to be a unique, inherited syndrome of bone marrow failure. 21508125 2011
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.140 Biomarker disease HPO