Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L
CUI: C0007193
Disease: Cardiomyopathy, Dilated
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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 CausalMutation CLINVAR Interpreting secondary cardiac disease variants in an exome cohort. 23861362

2014

Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 CausalMutation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L
CUI: C0007193
Disease: Cardiomyopathy, Dilated
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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
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

2013

Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L
CUI: C0007193
Disease: Cardiomyopathy, Dilated
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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 CausalMutation CLINVAR Comparative proteomics profiling of a phospholamban mutant mouse model of dilated cardiomyopathy reveals progressive intracellular stress responses. 18056057

2008

Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L
CUI: C0007193
Disease: Cardiomyopathy, Dilated
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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 CausalMutation CLINVAR Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. 12610310

2003