Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		G 0.710 CausalMutation CLINVAR Interpreting secondary cardiac disease variants in an exome cohort. 23861362

2013
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		G 0.710 CausalMutation CLINVAR Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in patients from southern Poland. 21332051

2011
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		G 0.710 CausalMutation CLINVAR PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing. 21167350

2011
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		G 0.710 CausalMutation CLINVAR Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. 17655857

2007
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		G 0.710 CausalMutation CLINVAR [Association between phospholamban gene mutation and dilated cardiomyopathy in the Chengdu area]. 16235537

2005
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		G 0.710 CausalMutation CLINVAR Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. 12639993

2003