GATA1, GATA binding protein 1, 2623

N. diseases: 264; N. variants: 19
Disease: Congenital erythroid hypoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1542667
Disease: Congenital erythroid hypoplasia
Congenital erythroid hypoplasia 		0.010 GeneticVariation disease BEFREE Mutations in GATA-1 are associated with acute megakaryoblastic leukemia (AMKL), congenital erythroid hypoplasia (Diamond-Blackfan anemia; DBA), and X-linked anemia and/or thrombocytopenia. 28566565 2017