GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
Disease: VENTRICULAR SEPTAL DEFECT, LARGE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777710
rs587777710
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C0238521
Disease:
VENTRICULAR SEPTAL DEFECT, LARGE 		0.010 GeneticVariation BEFREE In the second, a nonsense mutation (c.712G>T, p.G238*) was identified in two siblings with CDH and a large ventricular septal defect. 24385578 2014