DisGeNET - a database of gene-disease associations

GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21

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:

rs387906813

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

CUI:	C4012454
Disease:

HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES

0.800

GeneticVariation

UNIPROT

GATA6 haploinsufficiency causes pancreatic agenesis in humans.

22158542

2011

dbSNP:

rs387906817

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

CUI:	C4012454
Disease:

HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES

0.800

GeneticVariation

UNIPROT

GATA6 haploinsufficiency causes pancreatic agenesis in humans.

22158542

2011

dbSNP:

rs387906818

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

CUI:	C4012454
Disease:

HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES

0.800

GeneticVariation

UNIPROT

GATA6 haploinsufficiency causes pancreatic agenesis in humans.

22158542

2011

dbSNP:

rs387906819

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

CUI:	C4012454
Disease:

HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES

0.800

GeneticVariation

UNIPROT

GATA6 haploinsufficiency causes pancreatic agenesis in humans.

22158542

2011

dbSNP:

rs387906820

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

CUI:	C4012454
Disease:

HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES

0.800

GeneticVariation

UNIPROT

GATA6 haploinsufficiency causes pancreatic agenesis in humans.

22158542

2011

dbSNP:

rs387906813

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

CUI:	C4012454
Disease:

HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES

0.800

CausalMutation

CLINVAR

dbSNP:

rs387906817

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

CUI:	C4012454
Disease:

HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES

0.800

CausalMutation

CLINVAR

dbSNP:

rs387906818

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

CUI:	C4012454
Disease:

HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES

0.800

CausalMutation

CLINVAR

dbSNP:

rs387906819

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

CUI:	C4012454
Disease:

HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES

0.800

CausalMutation

CLINVAR

dbSNP:

rs387906820

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

CUI:	C4012454
Disease:

HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES

0.800

CausalMutation

CLINVAR

dbSNP:

rs387906816

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

CUI:	C0039685
Disease:

Tetralogy of Fallot

0.720

GeneticVariation

BEFREE

Three heterozygous missense mutations, c.151G>A (E51K), c.551G>A (S184N) and c.733G>C (G245R), were identified in patients with tetralogy of Fallot or persistent truncus arteriosus.

24841381

2014

dbSNP:

rs387906816

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

CUI:	C0039685
Disease:

Tetralogy of Fallot

0.720

GeneticVariation

UNIPROT

Identification of GATA6 sequence variants in patients with congenital heart defects.

20581743

2010

dbSNP:

rs387906816

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

CUI:	C0039685
Disease:

Tetralogy of Fallot

0.720

GeneticVariation

BEFREE

The same heterozygous missense mutation (Ser184Asn) was identified in three patients, including one with tetralogy of Fallot and two with atrial septal defects.

20631719

2010

dbSNP:

rs387906816

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

CUI:	C0039685
Disease:

Tetralogy of Fallot

0.720

GeneticVariation

UNIPROT

A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.

20631719

2010

dbSNP:

rs387906818

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

CUI:	C0235833
Disease:

Congenital diaphragmatic hernia

0.710

GeneticVariation

BEFREE

In the first family, we identified a de novo missense mutation (c.1366C>T, p.R456C) in a sporadic CDH patient with tetralogy of Fallot.

24385578

2014

dbSNP:

rs387906818

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

CUI:	C0039685
Disease:

Tetralogy of Fallot

0.710

GeneticVariation

BEFREE

In the first family, we identified a de novo missense mutation (c.1366C>T, p.R456C) in a sporadic CDH patient with tetralogy of Fallot.

24385578

2014

dbSNP:

rs387906818

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

CUI:	C0235833
Disease:

Congenital diaphragmatic hernia

0.710

CausalMutation

CLINVAR

In the first family, we identified a de novo missense mutation (c.1366C>T, p.R456C) in a sporadic CDH patient with tetralogy of Fallot.

24385578

2014

dbSNP:

rs387906818

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

CUI:	C0039685
Disease:

Tetralogy of Fallot

0.710

CausalMutation

CLINVAR

Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.

24385578

2014

dbSNP:

rs587777710

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

CUI:	C0235833
Disease:

Congenital diaphragmatic hernia

0.710

CausalMutation

CLINVAR

In the second, a nonsense mutation (c.712G>T, p.G238*) was identified in two siblings with CDH and a large ventricular septal defect.

24385578

2014

dbSNP:

rs587777710

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

CUI:	C0235833
Disease:

Congenital diaphragmatic hernia

0.710

GeneticVariation

BEFREE

In the second, a nonsense mutation (c.712G>T, p.G238*) was identified in two siblings with CDH and a large ventricular septal defect.

24385578

2014

dbSNP:

rs587777710

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

CUI:	C0345140
Disease:

Totally absent pericardium

0.710

CausalMutation

CLINVAR

The G238* mutation was inherited from their mother, who was clinically affected with congenital absence of the pericardium, patent ductus arteriosus and intestinal malrotation.

24385578

2014

dbSNP:

rs587777710

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

CUI:	C0345140
Disease:

Totally absent pericardium

0.710

GeneticVariation

BEFREE

The G238* mutation was inherited from their mother, who was clinically affected with congenital absence of the pericardium, patent ductus arteriosus and intestinal malrotation.

24385578

2014

dbSNP:

rs1555628863

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

CUI:	C0018817
Disease:

Atrial Septal Defects

0.700

CausalMutation

CLINVAR

Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.

24385578

2014

dbSNP:

rs1555628863

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

CUI:	C0235833
Disease:

Congenital diaphragmatic hernia

0.700

CausalMutation

CLINVAR

Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.

24385578

2014

dbSNP:

rs587777710

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

CUI:	C0013274
Disease:

Patent ductus arteriosus

0.700

CausalMutation

CLINVAR

The G238* mutation was inherited from their mother, who was clinically affected with congenital absence of the pericardium, patent ductus arteriosus and intestinal malrotation.

24385578

2014