×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
Cardiomyopathy, Dilated
0.100
GeneticVariation
CLINVAR
Neuromuscular transmission defects in myopathies: Rare but worth searching for.
30536954 2019
×
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
29478781 2018
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.
26735901 2016
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation.
26899768 2016
×
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
27799064 2016
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Atlas of the clinical genetics of human dilated cardiomyopathy.
25163546 2015
×
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.
25928149 2015
×
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Acute inotropic and lusitropic effects of cardiomyopathic R9C mutation of phospholamban.
25593317 2015
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
Cardiomyopathy, Dilated
0.100
GeneticVariation
CLINVAR
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
25589632 2015
×
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
Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.
25448463 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: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
Cardiomyopathy, Dilated
0.100
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: 100652770
Gene Symbol: DSG2-AS1
DSG2-AS1
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy.
23381804 2013
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
Cardiomyopathy, Dilated
0.100
GeneticVariation
CLINVAR
Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.
24119082 2013
×
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Structure-function relation of phospholamban: modulation of channel activity as a potential regulator of SERCA activity.
23308118 2013
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Truncations of titin causing dilated cardiomyopathy.
22335739 2012
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
Cardiomyopathy, Dilated
0.100
GeneticVariation
CLINVAR
Truncations of titin causing dilated cardiomyopathy.
22335739 2012
×
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.
22427649 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: 387119
Gene Symbol: CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.
22707725 2012
×
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.
22820313 2012
×
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A.
21282613 2011
×
Entrez Id: 100652770
Gene Symbol: DSG2-AS1
DSG2-AS1
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy.
21397041 2011
×
Entrez Id: 100652770
Gene Symbol: DSG2-AS1
DSG2-AS1
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.
20864495 2010