GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
Disease: Double inlet left ventricle ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0344622
Disease: Double inlet left ventricle
Double inlet left ventricle 		0.010 GeneticVariation disease BEFREE In humans, non-synonymous GATA4 sequence variants were associated with ECD (2/43), ASD (1/8), and RV hypoplasia in the context of double inlet left ventricle (1/9), forms of CHD that overlapped with abnormalities seen in the mouse model. 17643447 2007