GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
Disease: VENTRICULAR SEPTAL DEFECT 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199922907
rs199922907
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C3280777
Disease:
VENTRICULAR SEPTAL DEFECT 1 		0.700 GeneticVariation UNIPROT A novel GATA4 loss-of-function mutation associated with congenital ventricular septal defect. 22101736 2012
dbSNP: rs199922907
rs199922907
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C3280777
Disease:
VENTRICULAR SEPTAL DEFECT 1 		0.700 GeneticVariation UNIPROT A novel GATA4 mutation responsible for congenital ventricular septal defects. 21637914 2011
dbSNP: rs199922907
rs199922907
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C3280777
Disease:
VENTRICULAR SEPTAL DEFECT 1 		0.700 GeneticVariation UNIPROT Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. 21110066 2010
dbSNP: rs199922907
rs199922907
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C3280777
Disease:
VENTRICULAR SEPTAL DEFECT 1 		0.700 GeneticVariation UNIPROT GATA4 mutations in 486 Chinese patients with congenital heart disease. 18672102 2009