GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
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: rs56208331
rs56208331
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0039685
Disease:
Tetralogy of Fallot 		0.710 GeneticVariation BEFREE Two heterozygous missense mutations of c.1220C > A and c.1273G > A in GATA4 gene, which cause the amino acid residue changes of P407Q and D425N in GATA4, were found in a patient with tetralogy of Fallot and a patient with ventricular septal defect, respectively. 19302747 2009
dbSNP: rs56208331
rs56208331
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0039685
Disease:
Tetralogy of Fallot 		A 0.710 CausalMutation CLINVAR