×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Cardiomyopathy, Dilated
0.700
GeneticVariation
CLINVAR
Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia.
18048769
2008
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Cardiomyopathy, Dilated
0.700
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
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Cardiomyopathy, Dilated
0.700
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
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Cardiomyopathy, Dilated
0.700
CausalMutation
CLINVAR
Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q.
22710484
2012
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Cardiomyopathy, Dilated
0.700
CausalMutation
CLINVAR
Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy.
20458009
2010
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Cardiomyopathy, Dilated
0.700
CausalMutation
CLINVAR
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.
9521325
1998
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Cardiomyopathy, Dilated
0.700
CausalMutation
CLINVAR
R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy.
22999724
2012
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Cardiomyopathy, Dilated
0.700
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
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Cardiomyopathy, Dilated
0.700
CausalMutation
CLINVAR
SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism.
21596231
2011
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Cardiomyopathy, Dilated
0.700
CausalMutation
CLINVAR
Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome.
22277643
2012
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Cardiomyopathy, Dilated
0.700
GeneticVariation
CLINVAR
Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy.
24815523
2014
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Cardiomyopathy, Dilated
0.700
GeneticVariation
CLINVAR
Homozygous SCN5A mutation in Brugada syndrome with monomorphic ventricular tachycardia and structural heart abnormalities.
17442746
2007
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Cardiomyopathy, Dilated
0.700
CausalMutation
CLINVAR
Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy.
22766342
2012
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Cardiomyopathy, Dilated
0.700
GeneticVariation
CLINVAR
Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.
15671429
2005
×
Entrez Id:
70
Gene Symbol:
ACTC1
ACTC1
Cardiomyopathy, Dilated
0.650
GeneticVariation
CLINVAR
Familial left ventricular noncompaction associated with a novel mutation in the alpha-cardiac actin gene.
25201647
2014
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Dilated
0.630
CausalMutation
CLINVAR
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.
22675533
2012
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Dilated
0.630
CausalMutation
CLINVAR
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.
11106718
2000
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Dilated
0.630
CausalMutation
CLINVAR
Cardiac troponin T lysine 210 deletion in a family with dilated cardiomyopathy.
11862580
2002
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Dilated
0.630
CausalMutation
CLINVAR
Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy.
20031601
2009
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Dilated
0.630
CausalMutation
CLINVAR
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype.
15923195
2005
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Dilated
0.630
CausalMutation
CLINVAR
The role of cardiac troponin T quantity and function in cardiac development and dilated cardiomyopathy.
18612386
2008
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Dilated
0.630
GeneticVariation
CLINVAR
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype.
15923195
2005
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Dilated
0.630
CausalMutation
CLINVAR
[Association of TNNT2 gene mutations with idiopathic dilated cardiomyopathy in a Chengdu population].
19253838
2008
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Dilated
0.630
GeneticVariation
CLINVAR
Novel Genetic Variants in BAG3 and TNNT2 in a Swedish Family with a History of Dilated Cardiomyopathy and Sudden Cardiac Death.
28669108
2017
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Dilated
0.630
CausalMutation
CLINVAR
Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity.
23539503
2013