×
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: 88
Gene Symbol: ACTN2
ACTN2
Cardiomyopathy, Dilated
0.120
CausalMutation
CLINVAR
Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.
20022194 2010
×
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
×
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: 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
×
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
Cardiomyopathy, Dilated
0.400
CausalMutation
CLINVAR
A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.
21459883 2011
×
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
Cardiomyopathy, Dilated
0.400
CausalMutation
CLINVAR
Loss-of-function mutations in co-chaperone BAG3 destabilize small HSPs and cause cardiomyopathy.
28737513 2017
×
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
Cardiomyopathy, Dilated
0.400
CausalMutation
CLINVAR
Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.
25448463 2014
×
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
Cardiomyopathy, Dilated
0.400
CausalMutation
CLINVAR
Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy.
24558114 2014
×
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
Cardiomyopathy, Dilated
0.400
GeneticVariation
CLINVAR
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.
21353195 2011
×
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
Cardiomyopathy, Dilated
0.400
GeneticVariation
CLINVAR
A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.
21459883 2011
×
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
Cardiomyopathy, Dilated
0.400
GeneticVariation
CLINVAR
BAG3 myofibrillar myopathy presenting with cardiomyopathy.
25728519 2015
×
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
Cardiomyopathy, Dilated
0.400
GeneticVariation
CLINVAR
BAG3: a new player in the heart failure paradigm.
25925243 2015
×
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
Cardiomyopathy, Dilated
0.400
CausalMutation
CLINVAR
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
22337857 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: 387119
Gene Symbol: CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes.
19324307 2009
×
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
A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.
16432188 2006
×
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: 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
Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy.
17010801 2006
×
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: 387119
Gene Symbol: CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.
12610310 2003
×
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Alterations of phospholamban function can exhibit cardiotoxic effects independent of excessive sarcoplasmic reticulum Ca2+-ATPase inhibition.
19139388 2009
×
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