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: rs111033559
rs111033559
PLN ; CEP85L
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.710 CausalMutation CLINVAR Acute inotropic and lusitropic effects of cardiomyopathic R9C mutation of phospholamban. 25593317

2015
dbSNP: rs111033559
rs111033559
PLN ; CEP85L
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.710 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
dbSNP: rs111033559
rs111033559
PLN ; CEP85L
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.710 CausalMutation CLINVAR Structure-function relation of phospholamban: modulation of channel activity as a potential regulator of SERCA activity. 23308118

2013
dbSNP: rs111033559
rs111033559
PLN ; CEP85L
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.710 CausalMutation CLINVAR Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy. 22427649

2012
dbSNP: rs111033559
rs111033559
PLN ; CEP85L
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.710 CausalMutation CLINVAR Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A. 22707725

2012
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
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: 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 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 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
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		G 0.710 CausalMutation CLINVAR

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

dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P 		G 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P 		G 0.700 CausalMutation CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685

2015
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P 		G 0.700 CausalMutation CLINVAR Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia? 26535225

2015
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: 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: 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: C3151265
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18 		G 0.700 CausalMutation CLINVAR