×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
Cardiomyopathy, Dilated
0.900
GeneticVariation
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
Cardiomyopathy, Dilated
0.900
GeneticVariation
CLINVAR
The kinase domain of titin controls muscle gene expression and protein turnover.
15802564
2005
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
Cardiomyopathy, Dilated
0.900
GeneticVariation
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
Cardiomyopathy, Dilated
0.900
GeneticVariation
CLINVAR
Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.
25448463
2014
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
Cardiomyopathy, Dilated
0.900
GeneticVariation
CLINVAR
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
17444505
2007
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
Cardiomyopathy, Dilated
0.900
GeneticVariation
CLINVAR
Neuromuscular transmission defects in myopathies: Rare but worth searching for.
30536954
2019
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
Cardiomyopathy, Dilated
0.900
GeneticVariation
CLINVAR
Truncations of titin causing dilated cardiomyopathy.
22335739
2012
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
Cardiomyopathy, Dilated
0.900
GeneticVariation
CLINVAR
Familial dilated cardiomyopathy locus maps to chromosome 2q31.
10051295
1999
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
Cardiomyopathy, Dilated
0.900
GeneticVariation
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
Cardiomyopathy, Dilated
0.900
GeneticVariation
CLINVAR
Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.
24119082
2013
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
Cardiomyopathy, Dilated
0.900
GeneticVariation
CLINVAR
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).
18948003
2008
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
Cardiomyopathy, Dilated
0.900
GeneticVariation
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
Cardiomyopathy, Dilated
0.900
GeneticVariation
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
Cardiomyopathy, Dilated
0.900
GeneticVariation
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
Cardiomyopathy, Dilated
0.900
GeneticVariation
CLINVAR
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
24503780
2014
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
Cardiomyopathy, Dilated
0.900
GeneticVariation
CLINVAR
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.
11788824
2002
×
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
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
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
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
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
GeneticVariation
CLINVAR
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
27153395
2016
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Dilated
0.630
GeneticVariation
CLINVAR
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.
21551322
2011