GATA2, GATA binding protein 2, 2624

N. diseases: 229; N. variants: 33
Disease: Neutropenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.110 GeneticVariation disease BEFREE In the present study, we describe the initial identification by exome sequencing of a GATA2 R396Q mutation in a family with a history of chronic mild neutropenia evolving to AML and/or MDS. 23223431 2013
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.110 Biomarker disease HPO