GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
Disease: Perimembranous ventricular septal defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0344925
Disease: Perimembranous ventricular septal defect
Perimembranous ventricular septal defect 		0.010 GeneticVariation disease BEFREE Two novel mutations in the coding region of GATA4 were identified, namely, 487C >T (Pro163Ser) in exon 1 in a child with tetralogy of Fallot and 1220C >A (Pro407Gln) in exon 6 in a pediatric patient with outlet membranous ventricular septal defect. 21110066 2010