×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
CLINVAR
Neuromuscular transmission defects in myopathies: Rare but worth searching for.
30536954
2019
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
CLINVAR
Severe DCM phenotype of patient harboring RBM20 mutation S635A can be modeled by patient-specific induced pluripotent stem cell-derived cardiomyocytes.
28941705
2017
×
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
Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation.
26899768
2016
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
CLINVAR
HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.
26315439
2015
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
CLINVAR
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
25589632
2015
×
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
GeneticVariation
group
CLINVAR
Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.
25448463
2014
×
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
GeneticVariation
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
GeneticVariation
group
CLINVAR
Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.
24119082
2013
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
CLINVAR
Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.
23418287
2013
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
CLINVAR
Truncations of titin causing dilated cardiomyopathy.
22335739
2012
×
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
GeneticVariation
group
CLINVAR
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).
18948003
2008
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
CLINVAR
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
17444505
2007
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
CLINVAR
Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy.
16733766
2006
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
CLINVAR
The kinase domain of titin controls muscle gene expression and protein turnover.
15802564
2005
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
CLINVAR
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.
12145747
2002
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
CLINVAR
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.
11788824
2002
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
CLINVAR
Familial dilated cardiomyopathy locus maps to chromosome 2q31.
10051295
1999
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.700
GeneticVariation
group
CLINVAR
Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy.
24815523
2014
×
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
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
R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy.
22999724
2012