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
dbSNP: rs104894073
rs104894073
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0018798
Disease:
Congenital Heart Defects 		0.010 GeneticVariation BEFREE In summary, the Gata4 G295S mutation functions as a hypomorph in vivo and leads to defects in cardiomyocyte proliferation during embryogenesis, which may contribute to the development of congenital heart defects in humans. 22589735 2012