GATA1, GATA binding protein 1, 2623

N. diseases: 264; N. variants: 19
Disease: Delta-Beta Thalassemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271985
Disease: Delta-Beta Thalassemia
Delta-Beta Thalassemia 		0.010 Biomarker disease BEFREE Among the protein-binding DNA sequence motifs 3' to the Indian delta beta-thalassaemia breakpoint, at 76581/76607 there is a TGATAA/ACACCC pair that binds the erythroid-specific GATA-1 and ubiquitous CACCC-box binding proteins. 1419824 1992