DisGeNET - a database of gene-disease associations

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS, C3276096

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104893900

NKX2-5

0.800

GeneticVariation

UNIPROT

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

15810002

2005

dbSNP:

rs104893906

NKX2-5

0.800

GeneticVariation

UNIPROT

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

15810002

2005

dbSNP:

rs137852683

NKX2-5

0.800

GeneticVariation

UNIPROT

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

15810002

2005

dbSNP:

rs387906773

NKX2-5

0.800

GeneticVariation

UNIPROT

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

15810002

2005

dbSNP:

rs387906774

NKX2-5

0.800

GeneticVariation

UNIPROT

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

15810002

2005

dbSNP:

rs104893900

NKX2-5

0.800

GeneticVariation

UNIPROT

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

15342699

2004

dbSNP:

rs104893906

NKX2-5

0.800

GeneticVariation

UNIPROT

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

15342699

2004

dbSNP:

rs137852683

NKX2-5

0.800

GeneticVariation

UNIPROT

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

15342699

2004

dbSNP:

rs387906773

NKX2-5

0.800

GeneticVariation

UNIPROT

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

15342699

2004

dbSNP:

rs387906774

NKX2-5

0.800

GeneticVariation

UNIPROT

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

15342699

2004

dbSNP:

rs104893900

NKX2-5

0.800

GeneticVariation

UNIPROT

NKX2.5 mutations in patients with congenital heart disease.

14607454

2003

dbSNP:

rs104893906

NKX2-5

0.800

GeneticVariation

UNIPROT

NKX2.5 mutations in patients with congenital heart disease.

14607454

2003

dbSNP:

rs137852683

NKX2-5

0.800

GeneticVariation

UNIPROT

NKX2.5 mutations in patients with congenital heart disease.

14607454

2003

dbSNP:

rs387906773

NKX2-5

0.800

GeneticVariation

UNIPROT

NKX2.5 mutations in patients with congenital heart disease.

14607454

2003

dbSNP:

rs387906774

NKX2-5

0.800

GeneticVariation

UNIPROT

NKX2.5 mutations in patients with congenital heart disease.

14607454

2003

dbSNP:

rs104893900

NKX2-5

0.800

GeneticVariation

UNIPROT

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

10587520

1999

dbSNP:

rs104893906

NKX2-5

0.800

GeneticVariation

UNIPROT

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

10587520

1999

dbSNP:

rs137852683

NKX2-5

0.800

GeneticVariation

UNIPROT

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

10587520

1999

dbSNP:

rs387906773

NKX2-5

0.800

GeneticVariation

UNIPROT

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

10587520

1999

dbSNP:

rs387906774

NKX2-5

0.800

GeneticVariation

UNIPROT

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

10587520

1999

dbSNP:

rs104893900

NKX2-5

0.800

GeneticVariation

UNIPROT

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

9651244

1998

dbSNP:

rs104893906

NKX2-5

0.800

GeneticVariation

UNIPROT

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

9651244

1998

dbSNP:

rs137852683

NKX2-5

0.800

GeneticVariation

UNIPROT

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

9651244

1998

dbSNP:

rs387906773

NKX2-5

0.800

GeneticVariation

UNIPROT

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

9651244

1998

dbSNP:

rs387906774

NKX2-5

0.800

GeneticVariation

UNIPROT

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

9651244

1998