GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906769
rs387906769
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C3280781
Disease:
ATRIOVENTRICULAR SEPTAL DEFECT 4 		0.800 GeneticVariation UNIPROT Spectrum of heart disease associated with murine and human GATA4 mutation. 17643447 2007
dbSNP: rs115372595
rs115372595
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C3280781
Disease:
ATRIOVENTRICULAR SEPTAL DEFECT 4 		T 0.800 CausalMutation CLINVAR
dbSNP: rs115372595
rs115372595
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C3280781
Disease:
ATRIOVENTRICULAR SEPTAL DEFECT 4 		0.800 GeneticVariation UNIPROT
dbSNP: rs387906769
rs387906769
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C3280781
Disease:
ATRIOVENTRICULAR SEPTAL DEFECT 4 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1405855570
rs1405855570
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C3280781
Disease:
ATRIOVENTRICULAR SEPTAL DEFECT 4 		G 0.700 GeneticVariation CLINVAR A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family. 15235040 2004
dbSNP: rs1405855570
rs1405855570
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C3280781
Disease:
ATRIOVENTRICULAR SEPTAL DEFECT 4 		G 0.700 GeneticVariation CLINVAR GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. 12845333 2003