GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
Disease: Tetralogy of Fallot ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906818
rs387906818
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C0039685
Disease:
Tetralogy of Fallot 		0.710 GeneticVariation BEFREE In the first family, we identified a de novo missense mutation (c.1366C>T, p.R456C) in a sporadic CDH patient with tetralogy of Fallot. 24385578 2014
dbSNP: rs387906818
rs387906818
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C0039685
Disease:
Tetralogy of Fallot 		T 0.710 CausalMutation CLINVAR Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. 24385578 2014