rs115099192
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
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
rs115099192
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
Tetralogy of Fallot
A
0.810
CausalMutation
CLINVAR
rs115099192
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
Tetralogy of Fallot
0.810
GeneticVariation
UNIPROT
rs104894073
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
Atrial septal defect 2
0.800
GeneticVariation
UNIPROT
Disease Model of GATA4 Mutation Reveals Transcription Factor Cooperativity in Human Cardiogenesis.
27984724
2016
rs104894074
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
Atrial septal defect 2
0.800
GeneticVariation
UNIPROT
Disease Model of GATA4 Mutation Reveals Transcription Factor Cooperativity in Human Cardiogenesis.
27984724
2016
rs387906772
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
Atrial septal defect 2
0.800
GeneticVariation
UNIPROT
Disease Model of GATA4 Mutation Reveals Transcription Factor Cooperativity in Human Cardiogenesis.
27984724
2016
rs56298569
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
Atrial septal defect 2
0.800
GeneticVariation
UNIPROT
Disease Model of GATA4 Mutation Reveals Transcription Factor Cooperativity in Human Cardiogenesis.
27984724
2016
rs104894073
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
VENTRICULAR SEPTAL DEFECT 1
0.800
GeneticVariation
UNIPROT
A novel GATA4 loss-of-function mutation associated with congenital ventricular septal defect.
22101736
2012
rs146017816
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
VENTRICULAR SEPTAL DEFECT 1
0.800
GeneticVariation
UNIPROT
A novel GATA4 loss-of-function mutation associated with congenital ventricular septal defect.
22101736
2012
rs368489876
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
VENTRICULAR SEPTAL DEFECT 1
0.800
GeneticVariation
UNIPROT
A novel GATA4 loss-of-function mutation associated with congenital ventricular septal defect.
22101736
2012
rs104894073
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
VENTRICULAR SEPTAL DEFECT 1
0.800
GeneticVariation
UNIPROT
A novel GATA4 mutation responsible for congenital ventricular septal defects.
21637914
2011
rs146017816
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
VENTRICULAR SEPTAL DEFECT 1
0.800
GeneticVariation
UNIPROT
A novel GATA4 mutation responsible for congenital ventricular septal defects.
21637914
2011
rs368489876
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
VENTRICULAR SEPTAL DEFECT 1
0.800
GeneticVariation
UNIPROT
A novel GATA4 mutation responsible for congenital ventricular septal defects.
21637914
2011
rs398122402
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE
0.800
GeneticVariation
UNIPROT
Loss-of-function mutation in GATA4 causes anomalies of human testicular development.
21220346
2011
rs104894073
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
Atrial septal defect 2
0.800
GeneticVariation
UNIPROT
A novel mutation of GATA4 in a familial atrial septal defect.
20659440
2010
rs104894073
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
Atrial septal defect 2
0.800
GeneticVariation
UNIPROT
A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect.
20347099
2010
rs104894073
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
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
rs104894074
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
Atrial septal defect 2
0.800
GeneticVariation
UNIPROT
A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect.
20347099
2010
rs104894074
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
Atrial septal defect 2
0.800
GeneticVariation
UNIPROT
A novel mutation of GATA4 in a familial atrial septal defect.
20659440
2010
rs146017816
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
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
rs368489876
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
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
rs387906772
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
Atrial septal defect 2
0.800
GeneticVariation
UNIPROT
A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect.
20347099
2010
rs387906772
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
Atrial septal defect 2
0.800
GeneticVariation
UNIPROT
A novel mutation of GATA4 in a familial atrial septal defect.
20659440
2010
rs56298569
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
Atrial septal defect 2
0.800
GeneticVariation
UNIPROT
A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect.
20347099
2010
rs56298569
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
Atrial septal defect 2
0.800
GeneticVariation
UNIPROT
A novel mutation of GATA4 in a familial atrial septal defect.
20659440
2010