×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
Cardiomyopathy, Dilated
0.100
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: 5350
Gene Symbol: PLN
PLN
Cardiomyopathy, Dilated
0.200
CausalMutation
CLINVAR
Through genetic screening of dilated cardiomyopathy patients, we identified a previously uncharacterized deletion of arginine 14 (PLN -R14Del) in the coding region of the phospholamban (PLN ) gene in a large family with hereditary heart failure.
16432188 2006
×
Entrez Id: 6901
Gene Symbol: TAZ
TAZ
Cardiomyopathy, Dilated
0.190
CausalMutation
CLINVAR
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.
9382096 1997
×
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Dilated
0.490
GeneticVariation
CLINVAR
The sarcomeric M-region: a molecular command center for diverse cellular processes.
25961035 2015
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy.
19875404 2009
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
CausalMutation
CLINVAR
The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy.
19875404 2009
×
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: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
CausalMutation
CLINVAR
The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins.
24001739 2013
×
Entrez Id: 7273
Gene Symbol: TTN
TTN
Cardiomyopathy, Dilated
0.900
CausalMutation
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
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
24503780 2014
×
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
Cardiomyopathy, Dilated
0.630
CausalMutation
CLINVAR
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
24503780 2014
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
24503780 2014
×
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Dilated
0.490
CausalMutation
CLINVAR
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
24503780 2014
×
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
Cardiomyopathy, Dilated
0.430
CausalMutation
CLINVAR
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
24503780 2014
×
Entrez Id: 1832
Gene Symbol: DSP
DSP
Cardiomyopathy, Dilated
0.130
GeneticVariation
CLINVAR
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
24503780 2014
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
24503780 2014
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
Cardiomyopathy, Dilated
0.100
GeneticVariation
CLINVAR
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
24503780 2014
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
CausalMutation
CLINVAR
The laminopathies: a clinical review.
16965317 2006
×
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: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
Cardiomyopathy, Dilated
0.100
GeneticVariation
CLINVAR
The kinase domain of titin controls muscle gene expression and protein turnover.
15802564 2005
×
Entrez Id: 7168
Gene Symbol: TPM1
TPM1
Cardiomyopathy, Dilated
0.200
GeneticVariation
CLINVAR
The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy.
20530761 2010
×
Entrez Id: 5350
Gene Symbol: PLN
PLN
Cardiomyopathy, Dilated
0.200
CausalMutation
CLINVAR
The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase.
22155237 2012
×
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase.
22155237 2012
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope.
29943882 2018
×
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
Cardiomyopathy, Dilated
0.400
CausalMutation
CLINVAR
The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.
25008357 2014