GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
Disease: Totally absent pericardium ×
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: C0345140
Disease:
Totally absent pericardium 		T 0.710 CausalMutation CLINVAR The G238* mutation was inherited from their mother, who was clinically affected with congenital absence of the pericardium, patent ductus arteriosus and intestinal malrotation. 24385578 2014
dbSNP: rs587777710
rs587777710
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C0345140
Disease:
Totally absent pericardium 		0.710 GeneticVariation BEFREE The G238* mutation was inherited from their mother, who was clinically affected with congenital absence of the pericardium, patent ductus arteriosus and intestinal malrotation. 24385578 2014