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:

rs28936670

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C0039685
Disease:

Tetralogy of Fallot

0.810

GeneticVariation

BEFREE

They found one previously documented NKX2-5 missense alteration, heterozygous c.73C>T (p.Arg25Cys), in a 10-year-old boy with tetralogy of Fallot.

17891434

2008

dbSNP:

rs28936670

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C0039685
Disease:

Tetralogy of Fallot

0.810

CausalMutation

CLINVAR

dbSNP:

rs28936670

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C0039685
Disease:

Tetralogy of Fallot

0.810

GeneticVariation

UNIPROT

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:

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:	C0018810
Disease:

heart rate

0.800

GeneticVariation

GWASCAT

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:	C0018810
Disease:

heart rate

0.800

GeneticVariation

GWASDB

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

23583979

2013

dbSNP:

rs137852685

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C2673630
Disease:

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)

0.800

GeneticVariation

UNIPROT

Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis.

16418214

2006

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:

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:

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:

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:

rs387906774

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:

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

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

15342699

2004

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

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

15342699

2004

dbSNP:

rs387906774

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

GeneticVariation

UNIPROT

NKX2.5 mutations in patients with congenital heart disease.

14607454

2003

dbSNP:

rs104893905

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C0039685
Disease:

Tetralogy of Fallot

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

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

NKX2.5 mutations in patients with congenital heart disease.

14607454

2003

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

dbSNP:

rs387906774

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:

rs104893905

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C0039685
Disease:

Tetralogy of Fallot

0.800

GeneticVariation

UNIPROT

NKX2.5 mutations in patients with tetralogy of fallot.

11714651

2001