Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L 		0.100 CausalMutation disease 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 		0.100 CausalMutation disease CLINVAR Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A. 22707725 2012
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L 		0.100 CausalMutation disease 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 		0.100 CausalMutation disease CLINVAR PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing. 21167350 2011
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L 		0.100 CausalMutation disease CLINVAR Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. 17655857 2007
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L 		0.100 CausalMutation disease 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 		0.100 CausalMutation disease CLINVAR Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. 12639993 2003