DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Hereditary bundle branch system defect ×

Gene: SCN5A ×

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:

rs137854607

SCN5A

CUI:	C1879286
Disease:	Hereditary bundle branch system defect

Hereditary bundle branch system defect

0.800

GeneticVariation

UNIPROT

MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome.

23420830

2013

dbSNP:

rs137854607

SCN5A

CUI:	C1879286
Disease:	Hereditary bundle branch system defect

Hereditary bundle branch system defect

0.800

GeneticVariation

UNIPROT

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

19251209

2009

dbSNP:

rs137854607

SCN5A

CUI:	C1879286
Disease:	Hereditary bundle branch system defect

Hereditary bundle branch system defect

0.800

GeneticVariation

UNIPROT

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

12569159

2003

dbSNP:

rs137854607

SCN5A

CUI:	C1879286
Disease:	Hereditary bundle branch system defect

Hereditary bundle branch system defect

0.800

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:

rs137854607

SCN5A

CUI:	C1879286
Disease:	Hereditary bundle branch system defect

Hereditary bundle branch system defect

0.800

GeneticVariation

UNIPROT

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

11804990

2002

dbSNP:

rs137854607

SCN5A

CUI:	C1879286
Disease:	Hereditary bundle branch system defect

Hereditary bundle branch system defect

0.800

GeneticVariation

UNIPROT

A sodium-channel mutation causes isolated cardiac conduction disease.

11234013

2001

dbSNP:

rs137854607

SCN5A

CUI:	C1879286
Disease:	Hereditary bundle branch system defect

Hereditary bundle branch system defect

0.800

CausalMutation

CLINVAR

dbSNP:

rs137854606

SCN5A

CUI:	C1879286
Disease:	Hereditary bundle branch system defect

Hereditary bundle branch system defect

0.700

GeneticVariation

UNIPROT

MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome.

23420830

2013

dbSNP:

rs137854606

SCN5A

CUI:	C1879286
Disease:	Hereditary bundle branch system defect

Hereditary bundle branch system defect

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

CUI:	C1879286
Disease:	Hereditary bundle branch system defect

Hereditary bundle branch system defect

0.700

GeneticVariation

UNIPROT

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

12569159

2003

dbSNP:

rs137854606

SCN5A

CUI:	C1879286
Disease:	Hereditary bundle branch system defect

Hereditary bundle branch system defect

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

CUI:	C1879286
Disease:	Hereditary bundle branch system defect

Hereditary bundle branch system defect

0.700

GeneticVariation

UNIPROT

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

11804990

2002

dbSNP:

rs137854606

SCN5A

CUI:	C1879286
Disease:	Hereditary bundle branch system defect

Hereditary bundle branch system defect

0.700

GeneticVariation

UNIPROT

A sodium-channel mutation causes isolated cardiac conduction disease.

11234013

2001

dbSNP:

rs137854608

SCN5A

CUI:	C1879286
Disease:	Hereditary bundle branch system defect

Hereditary bundle branch system defect

0.700

GeneticVariation

UNIPROT

Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes.

23994779

2013

dbSNP:

rs137854608

SCN5A

CUI:	C1879286
Disease:	Hereditary bundle branch system defect

Hereditary bundle branch system defect

0.700

GeneticVariation

UNIPROT

MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome.

23420830

2013

dbSNP:

rs137854608

SCN5A

CUI:	C1879286
Disease:	Hereditary bundle branch system defect

Hereditary bundle branch system defect

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:

rs137854608

SCN5A

CUI:	C1879286
Disease:	Hereditary bundle branch system defect

Hereditary bundle branch system defect

0.700

GeneticVariation

UNIPROT

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

12569159

2003

dbSNP:

rs137854608

SCN5A

CUI:	C1879286
Disease:	Hereditary bundle branch system defect

Hereditary bundle branch system defect

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

CUI:	C1879286
Disease:	Hereditary bundle branch system defect

Hereditary bundle branch system defect

0.700

GeneticVariation

UNIPROT

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

11804990

2002

dbSNP:

rs137854608

SCN5A

CUI:	C1879286
Disease:	Hereditary bundle branch system defect

Hereditary bundle branch system defect

0.700

GeneticVariation

UNIPROT

A sodium-channel mutation causes isolated cardiac conduction disease.

11234013

2001

dbSNP:

rs137854618

SCN5A

CUI:	C1879286
Disease:	Hereditary bundle branch system defect

Hereditary bundle branch system defect

0.700

GeneticVariation

UNIPROT

MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome.

23420830

2013

dbSNP:

rs137854618

SCN5A

CUI:	C1879286
Disease:	Hereditary bundle branch system defect

Hereditary bundle branch system defect

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:

rs137854618

SCN5A

CUI:	C1879286
Disease:	Hereditary bundle branch system defect

Hereditary bundle branch system defect

0.700

GeneticVariation

UNIPROT

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

12569159

2003

dbSNP:

rs137854618

SCN5A

CUI:	C1879286
Disease:	Hereditary bundle branch system defect

Hereditary bundle branch system defect

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

CUI:	C1879286
Disease:	Hereditary bundle branch system defect

Hereditary bundle branch system defect

0.700

GeneticVariation

UNIPROT

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

11804990

2002