Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.100 CausalMutation CLINVAR Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics. 23785128

2013
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		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
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		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: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.100 GeneticVariation CLINVAR