DisGeNET - a database of gene-disease associations

NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55

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:

rs2277923

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C0700502
Disease:

Acquired hypothyroidism

0.010

GeneticVariation

BEFREE

There was a significance association between 63A>G variation with primary hypothyroidism (p=0.003).

28749785

2017

dbSNP:

rs6882776

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C0004238
Disease:

Atrial Fibrillation

0.800

GeneticVariation

GWASDB

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.

23583979

2013

dbSNP:

rs6882776

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C0004238
Disease:

Atrial Fibrillation

0.800

GeneticVariation

GWASCAT

Multi-ethnic genome-wide association study for atrial fibrillation.

29892015

2018

dbSNP:

rs104893904

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C0004238
Disease:

Atrial Fibrillation

0.010

GeneticVariation

BEFREE

As a result, two heterozygous NKX2-5 mutations, including a previously reported p.E21Q and a novel p.T180A mutation, were identified in two families with AF transmitted in an autosomal dominant pattern.

24782644

2014

dbSNP:

rs104893900

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C3276096
Disease:

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

0.800

GeneticVariation

UNIPROT

Congenital heart disease caused by mutations in the transcription factor NKX2-5.

9651244

1998

dbSNP:

rs104893900

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C3276096
Disease:

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

0.800

GeneticVariation

UNIPROT

NKX2.5 mutations in patients with congenital heart disease.

14607454

2003

dbSNP:

rs104893900

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C3276096
Disease:

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

0.800

GeneticVariation

UNIPROT

Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.

10587520

1999

dbSNP:

rs104893900

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C3276096
Disease:

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

0.800

GeneticVariation

UNIPROT

Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.

15810002

2005

dbSNP:

rs104893900

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C3276096
Disease:

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

0.800

GeneticVariation

UNIPROT

Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.

15342699

2004

dbSNP:

rs104893900

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C3276096
Disease:

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

0.800

CausalMutation

CLINVAR

dbSNP:

rs104893906

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C3276096
Disease:

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

0.800

GeneticVariation

UNIPROT

Congenital heart disease caused by mutations in the transcription factor NKX2-5.

9651244

1998

dbSNP:

rs104893906

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C3276096
Disease:

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

0.800

GeneticVariation

UNIPROT

Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.

10587520

1999

dbSNP:

rs104893906

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C3276096
Disease:

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

0.800

GeneticVariation

UNIPROT

NKX2.5 mutations in patients with congenital heart disease.

14607454

2003

dbSNP:

rs104893906

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C3276096
Disease:

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

0.800

GeneticVariation

UNIPROT

Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.

15810002

2005

dbSNP:

rs104893906

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C3276096
Disease:

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

0.800

CausalMutation

CLINVAR

dbSNP:

rs104893906

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C3276096
Disease:

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

0.800

GeneticVariation

UNIPROT

Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.

15342699

2004

dbSNP:

rs137852683

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C3276096
Disease:

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

0.800

GeneticVariation

UNIPROT

Congenital heart disease caused by mutations in the transcription factor NKX2-5.

9651244

1998

dbSNP:

rs137852683

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C3276096
Disease:

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

0.800

GeneticVariation

UNIPROT

Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.

15342699

2004

dbSNP:

rs137852683

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C3276096
Disease:

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

0.800

GeneticVariation

UNIPROT

Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.

10587520

1999

dbSNP:

rs137852683

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C3276096
Disease:

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

0.800

GeneticVariation

UNIPROT

NKX2.5 mutations in patients with congenital heart disease.

14607454

2003

dbSNP:

rs137852683

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C3276096
Disease:

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

0.800

GeneticVariation

UNIPROT

Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.

15810002

2005

dbSNP:

rs137852683

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C3276096
Disease:

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

0.800

CausalMutation

CLINVAR

dbSNP:

rs387906773

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C3276096
Disease:

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

0.800

CausalMutation

CLINVAR

dbSNP:

rs387906773

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C3276096
Disease:

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

0.800

GeneticVariation

UNIPROT

Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.

15810002

2005

dbSNP:

rs387906773

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C3276096
Disease:

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

0.800

GeneticVariation

UNIPROT

NKX2.5 mutations in patients with congenital heart disease.

14607454

2003