Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033559
rs111033559
PLN ; CEP85L
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P 		T 0.800 CausalMutation CLINVAR

dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		G 0.710 CausalMutation CLINVAR

dbSNP: rs794729138
rs794729138
PLN ; CEP85L
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		CCT 0.700 GeneticVariation CLINVAR

dbSNP: rs397516784
rs397516784
PLN ; CEP85L
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		T 0.700 CausalMutation CLINVAR

dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C3151265
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18 		G 0.700 CausalMutation CLINVAR

dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs111033559
rs111033559
PLN ; CEP85L
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		T 0.700 CausalMutation CLINVAR

dbSNP: rs111033559
rs111033559
PLN ; CEP85L
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.710 CausalMutation CLINVAR Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. 12610310

2003
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
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P 		G 0.700 CausalMutation CLINVAR Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. 12639993

2003
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: rs397516784
rs397516784
PLN ; CEP85L
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		T 0.700 CausalMutation CLINVAR A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. 16432188

2006
dbSNP: rs397516784
rs397516784
PLN ; CEP85L
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P 		T 0.700 CausalMutation CLINVAR A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. 16432188

2006
dbSNP: rs397516784
rs397516784
PLN ; CEP85L
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. 16432188

2006
dbSNP: rs397516784
rs397516784
PLN ; CEP85L
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy. 17010801

2006
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: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P 		G 0.700 CausalMutation CLINVAR Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. 17655857

2007
dbSNP: rs111033559
rs111033559
PLN ; CEP85L
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.710 CausalMutation CLINVAR Comparative proteomics profiling of a phospholamban mutant mouse model of dilated cardiomyopathy reveals progressive intracellular stress responses. 18056057

2008
dbSNP: rs111033559
rs111033559
PLN ; CEP85L
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.710 CausalMutation CLINVAR Alterations of phospholamban function can exhibit cardiotoxic effects independent of excessive sarcoplasmic reticulum Ca2+-ATPase inhibition. 19139388

2009
dbSNP: rs397516784
rs397516784
PLN ; CEP85L
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes. 19324307

2009
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: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P 		G 0.700 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: rs111033559
rs111033559
PLN ; CEP85L
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.710 CausalMutation CLINVAR Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A. 21282613

2011