DisGeNET - a database of gene-disease associations

GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

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:

rs146017816

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:

rs368489876

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

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

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:

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

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:

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:

rs387906772

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:

rs387906772

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:

rs56298569

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:

rs56298569

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

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

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:

rs387906772

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:

rs56298569

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

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

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:

rs387906772

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:

rs56298569

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

Entrez Id:	2626
Gene Symbol:	GATA4

GATA4

CUI:	C1842778
Disease:

Atrial septal defect 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs104894073

Entrez Id:	2626
Gene Symbol:	GATA4

GATA4

CUI:	C1842778
Disease:

Atrial septal defect 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs104894073

Entrez Id:	2626
Gene Symbol:	GATA4

GATA4

CUI:	C3280777
Disease:

VENTRICULAR SEPTAL DEFECT 1

0.800

CausalMutation

CLINVAR

dbSNP:

rs104894074

Entrez Id:	2626
Gene Symbol:	GATA4

GATA4

CUI:	C1842778
Disease:

Atrial septal defect 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs115099192

Entrez Id:	2626
Gene Symbol:	GATA4

GATA4

CUI:	C3280777
Disease:

VENTRICULAR SEPTAL DEFECT 1

0.800

GeneticVariation

UNIPROT