DisGeNET - a database of gene-disease associations

Cardiomyopathy, Dilated, C0007193

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:

rs45546039

SCN5A

0.710

GeneticVariation

BEFREE

R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy.

22999724

2012

dbSNP:

rs45546039

SCN5A

0.710

CausalMutation

CLINVAR

Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy.

22766342

2012

dbSNP:

rs45546039

SCN5A

0.710

CausalMutation

CLINVAR

Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome.

22277643

2012

dbSNP:

rs45546039

SCN5A

0.710

CausalMutation

CLINVAR

Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q.

22710484

2012

dbSNP:

rs45546039

SCN5A

0.710

CausalMutation

CLINVAR

R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy.

22999724

2012

dbSNP:

rs45546039

SCN5A

0.710

CausalMutation

CLINVAR

SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism.

21596231

2011

dbSNP:

rs45546039

SCN5A

0.710

CausalMutation

CLINVAR

Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy.

20458009

2010

dbSNP:

rs45546039

SCN5A

0.710

CausalMutation

CLINVAR

SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del.

21167004

2010

dbSNP:

rs45546039

SCN5A

0.710

CausalMutation

CLINVAR

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

19716085

2009

dbSNP:

rs45546039

SCN5A

0.710

CausalMutation

CLINVAR

Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.

19412328

2008

dbSNP:

rs199473161

SCN5A

0.700

GeneticVariation

CLINVAR

Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy.

24815523

2014

dbSNP:

rs727504801

SCN5A

0.700

CausalMutation

CLINVAR

Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block.

22899775

2012

dbSNP:

rs727504801

SCN5A

0.700

CausalMutation

CLINVAR

SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism.

21596231

2011

dbSNP:

rs727504801

SCN5A

0.700

CausalMutation

CLINVAR

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

20129283

2010

dbSNP:

rs199473161

SCN5A

0.700

GeneticVariation

CLINVAR

Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia.

18048769

2008

dbSNP:

rs199473161

SCN5A

0.700

GeneticVariation

CLINVAR

Homozygous SCN5A mutation in Brugada syndrome with monomorphic ventricular tachycardia and structural heart abnormalities.

17442746

2007

dbSNP:

rs199473161

SCN5A

0.700

GeneticVariation

CLINVAR

Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.

15671429

2005

dbSNP:

rs727504801

SCN5A

0.700

CausalMutation

CLINVAR

Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.

15671429

2005

dbSNP:

rs727504801

SCN5A

0.700

CausalMutation

CLINVAR

Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.

9521325

1998

dbSNP:

rs41310765

SCN5A

0.030

GeneticVariation

BEFREE

We report LQT3 associated with an A1180V cardiac sodium channel mutation, previously associated with cardiac conduction block, and dilated cardiomyopathy in three generations of a Chinese family.

23963187

2014

dbSNP:

rs41310765

SCN5A

0.030

GeneticVariation

BEFREE

A1180V of cardiac sodium channel gene (SCN5A): is it a risk factor for dilated cardiomyopathy or just a common variant in Han Chinese?

24227891

2013

dbSNP:

rs41310765

SCN5A

0.030

GeneticVariation

BEFREE

The high penetrance of A1180V suggests this phenotype as a high risk factor for dilated cardiomyopathy with preceding atrioventricular block.

19808398

2008

dbSNP:

rs137854618

SCN5A

0.020

GeneticVariation

BEFREE

The missense mutation, D1275N, has been associated with a range of unusual phenotypes associated with reduced Na<sub>V</sub>1.5 function, including cardiac conduction disease and dilated cardiomyopathy.

28637969

2017

dbSNP:

rs137854618

SCN5A

0.020

GeneticVariation

BEFREE

The D1275N SCN5A mutation has been associated with a range of unusual phenotypes, including conduction disease and dilated cardiomyopathy, as well as atrial and ventricular tachyarrhythmias.

21824921

2011

dbSNP:

rs1805124

SCN5A

0.010

GeneticVariation

BEFREE

We examined the possible association between a common polymorphism in the SCN5A gene (c.1673A>G-p.H558R; rs1805124) and the risk of dilated cardiomyopathy (DCM) occurrence.

29782370

2018