GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
Disease: Congenital Heart Defects ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906772
rs387906772
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0018798
Disease:
Congenital Heart Defects 		0.010 GeneticVariation BEFREE In accordance with previous findings on GATA4 mutation screening and in vitro experiments, this study confirms that GATA4 M310V mutation may lead to the development of the congenital heart defect, ASD. 25873328 2015