GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs115099192
rs115099192
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0039685
Disease:
Tetralogy of Fallot 		A 0.810 CausalMutation CLINVAR
dbSNP: rs115099192
rs115099192
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0039685
Disease:
Tetralogy of Fallot 		0.810 GeneticVariation 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
dbSNP: rs115099192
rs115099192
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0039685
Disease:
Tetralogy of Fallot 		0.810 GeneticVariation UNIPROT
dbSNP: rs104894073
rs104894073
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C1842778
Disease:
Atrial septal defect 2 		0.800 GeneticVariation UNIPROT GATA4 sequence variants in patients with congenital heart disease. 18055909 2007
dbSNP: rs104894073
rs104894073
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C1842778
Disease:
Atrial septal defect 2 		0.800 GeneticVariation UNIPROT Spectrum of heart disease associated with murine and human GATA4 mutation. 17643447 2007
dbSNP: rs104894073
rs104894073
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C1842778
Disease:
Atrial septal defect 2 		0.800 GeneticVariation UNIPROT A novel mutation of GATA4 in a familial atrial septal defect. 20659440 2010
dbSNP: rs104894073
rs104894073
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C1842778
Disease:
Atrial septal defect 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104894073
rs104894073
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C1842778
Disease:
Atrial septal defect 2 		0.800 GeneticVariation UNIPROT A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect. 20347099 2010
dbSNP: rs104894073
rs104894073
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C1842778
Disease:
Atrial septal defect 2 		0.800 GeneticVariation UNIPROT Disease Model of GATA4 Mutation Reveals Transcription Factor Cooperativity in Human Cardiogenesis. 27984724 2016
dbSNP: rs104894073
rs104894073
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C1842778
Disease:
Atrial septal defect 2 		0.800 GeneticVariation UNIPROT Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. 15810002 2005
dbSNP: rs104894073
rs104894073
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C3280777
Disease:
VENTRICULAR SEPTAL DEFECT 1 		0.800 GeneticVariation UNIPROT GATA4 mutations in 486 Chinese patients with congenital heart disease. 18672102 2009
dbSNP: rs104894073
rs104894073
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C3280777
Disease:
VENTRICULAR SEPTAL DEFECT 1 		0.800 GeneticVariation UNIPROT A novel GATA4 mutation responsible for congenital ventricular septal defects. 21637914 2011
dbSNP: rs104894073
rs104894073
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C1842778
Disease:
Atrial septal defect 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104894073
rs104894073
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C3280777
Disease:
VENTRICULAR SEPTAL DEFECT 1 		0.800 GeneticVariation UNIPROT A novel GATA4 loss-of-function mutation associated with congenital ventricular septal defect. 22101736 2012
dbSNP: rs104894073
rs104894073
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C3280777
Disease:
VENTRICULAR SEPTAL DEFECT 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs104894073
rs104894073
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C1842778
Disease:
Atrial septal defect 2 		0.800 GeneticVariation UNIPROT GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. 12845333 2003
dbSNP: rs104894073
rs104894073
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C3280777
Disease:
VENTRICULAR SEPTAL DEFECT 1 		0.800 GeneticVariation UNIPROT Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. 21110066 2010
dbSNP: rs104894074
rs104894074
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C1842778
Disease:
Atrial septal defect 2 		0.800 GeneticVariation UNIPROT Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. 15810002 2005
dbSNP: rs104894074
rs104894074
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C1842778
Disease:
Atrial septal defect 2 		0.800 GeneticVariation UNIPROT A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect. 20347099 2010
dbSNP: rs104894074
rs104894074
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C1842778
Disease:
Atrial septal defect 2 		0.800 GeneticVariation UNIPROT GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. 12845333 2003
dbSNP: rs104894074
rs104894074
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C1842778
Disease:
Atrial septal defect 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104894074
rs104894074
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C1842778
Disease:
Atrial septal defect 2 		0.800 GeneticVariation UNIPROT Disease Model of GATA4 Mutation Reveals Transcription Factor Cooperativity in Human Cardiogenesis. 27984724 2016
dbSNP: rs104894074
rs104894074
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C1842778
Disease:
Atrial septal defect 2 		0.800 GeneticVariation UNIPROT A novel mutation of GATA4 in a familial atrial septal defect. 20659440 2010
dbSNP: rs104894074
rs104894074
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C1842778
Disease:
Atrial septal defect 2 		0.800 GeneticVariation UNIPROT GATA4 sequence variants in patients with congenital heart disease. 18055909 2007
dbSNP: rs104894074
rs104894074
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C1842778
Disease:
Atrial septal defect 2 		0.800 GeneticVariation UNIPROT Spectrum of heart disease associated with murine and human GATA4 mutation. 17643447 2007