×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
CausalMutation
group
CLINVAR
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.
26735901
2016
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
CausalMutation
group
CLINVAR
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
24503780
2014
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
CausalMutation
group
CLINVAR
Atlas of the clinical genetics of human dilated cardiomyopathy.
25163546
2015
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
CausalMutation
group
CLINVAR
Truncations of titin causing dilated cardiomyopathy.
22335739
2012
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
CausalMutation
group
CLINVAR
Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation.
26899768
2016
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.700
CausalMutation
group
CLINVAR
Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.
15671429
2005
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.700
CausalMutation
group
CLINVAR
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
20129283
2010
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.700
CausalMutation
group
CLINVAR
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.700
CausalMutation
group
CLINVAR
Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block.
22899775
2012
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.700
CausalMutation
group
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
0.700
CausalMutation
group
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
0.700
CausalMutation
group
CLINVAR
Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q.
22710484
2012
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.700
CausalMutation
group
CLINVAR
Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy.
20458009
2010
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.700
CausalMutation
group
CLINVAR
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.
9521325
1998
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.700
CausalMutation
group
CLINVAR
R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy.
22999724
2012
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.700
CausalMutation
group
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
0.700
CausalMutation
group
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
0.700
CausalMutation
group
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
0.700
CausalMutation
group
CLINVAR
Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy.
22766342
2012
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.630
CausalMutation
group
CLINVAR
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.
22675533
2012
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.630
CausalMutation
group
CLINVAR
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.
11106718
2000
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.630
CausalMutation
group
CLINVAR
Cardiac troponin T lysine 210 deletion in a family with dilated cardiomyopathy.
11862580
2002
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.630
CausalMutation
group
CLINVAR
Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy.
20031601
2009
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.630
CausalMutation
group
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
0.630
CausalMutation
group
CLINVAR
The role of cardiac troponin T quantity and function in cardiac development and dilated cardiomyopathy.
18612386
2008