DisGeNET - a database of gene-disease associations

Hereditary bundle branch system defect, C1879286

Gene: SCN5A ×

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:

rs199473282

SCN5A

0.700

GeneticVariation

UNIPROT

Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.

19251209

2009

dbSNP:

rs137854606

SCN5A

0.700

GeneticVariation

UNIPROT

A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.

12569159

2003

dbSNP:

rs137854606

SCN5A

0.700

GeneticVariation

UNIPROT

Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system.

12574143

2003

dbSNP:

rs137854608

SCN5A

0.700

GeneticVariation

UNIPROT

A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.

12569159

2003

dbSNP:

rs137854608

SCN5A

0.700

GeneticVariation

UNIPROT

Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system.

12574143

2003

dbSNP:

rs137854618

SCN5A

0.700

GeneticVariation

UNIPROT

A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.

12569159

2003

dbSNP:

rs137854618

SCN5A

0.700

GeneticVariation

UNIPROT

Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system.

12574143

2003

dbSNP:

rs199473062

SCN5A

0.700

GeneticVariation

UNIPROT

A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.

12569159

2003

dbSNP:

rs199473062

SCN5A

0.700

GeneticVariation

UNIPROT

Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system.

12574143

2003

dbSNP:

rs199473072

SCN5A

0.700

GeneticVariation

UNIPROT

A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.

12569159

2003

dbSNP:

rs199473072

SCN5A

0.700

GeneticVariation

UNIPROT

Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system.

12574143

2003

dbSNP:

rs199473118

SCN5A

0.700

GeneticVariation

UNIPROT

A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.

12569159

2003

dbSNP:

rs199473118

SCN5A

0.700

GeneticVariation

UNIPROT

Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system.

12574143

2003

dbSNP:

rs199473153

SCN5A

0.700

GeneticVariation

UNIPROT

Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system.

12574143

2003

dbSNP:

rs199473153

SCN5A

0.700

GeneticVariation

UNIPROT

A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.

12569159

2003

dbSNP:

rs199473207

SCN5A

0.700

GeneticVariation

UNIPROT

A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.

12569159

2003

dbSNP:

rs199473207

SCN5A

0.700

GeneticVariation

UNIPROT

Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system.

12574143

2003

dbSNP:

rs199473282

SCN5A

0.700

GeneticVariation

UNIPROT

A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.

12569159

2003

dbSNP:

rs199473282

SCN5A

0.700

GeneticVariation

UNIPROT

Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system.

12574143

2003

dbSNP:

rs137854606

SCN5A

0.700

GeneticVariation

UNIPROT

Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block.

11804990

2002

dbSNP:

rs137854608

SCN5A

0.700

GeneticVariation

UNIPROT

Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block.

11804990

2002

dbSNP:

rs137854618

SCN5A

0.700

GeneticVariation

UNIPROT

Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block.

11804990

2002

dbSNP:

rs199473062

SCN5A

0.700

GeneticVariation

UNIPROT

Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block.

11804990

2002

dbSNP:

rs199473072

SCN5A

0.700

GeneticVariation

UNIPROT

Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block.

11804990

2002

dbSNP:

rs199473118

SCN5A

0.700

GeneticVariation

UNIPROT

Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block.

11804990

2002