GATA6, GATA binding protein 6, 2627

N. diseases: 162; N. variants: 11
Disease: Ventricular Septal Defects ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.140 GeneticVariation group BEFREE In the present study, GATA6 gene promoter was genetically and functionally analyzed in large groups of patients with ventricular septal defect (VSD) (n=359) and ethnic-matched healthy controls (n=365). 25036032 2014
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.140 GeneticVariation group BEFREE Novel GATA6 mutations associated with congenital ventricular septal defect or tetralogy of fallot. 23020118 2012
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.140 GeneticVariation group BEFREE In this study, the entire coding region of the GATA6 gene, which encodes a zinc-finger transcription factor crucial to normal cardiogenesis, was sequenced in 130 unrelated patients with congenital VSD. 22407241 2012
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.140 GeneticVariation group BEFREE Compound loss of a Gata5 and a Gata6 allele also leads to DORVs associated with subaortic VSDs. 21839733 2011