PLN, phospholamban, 5350

N. diseases: 90; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033560
rs111033560
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		G 0.700 CausalMutation CLINVAR Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. 17655857 2007
dbSNP: rs111033559
rs111033559
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007193
Disease:
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
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007193
Disease:
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
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007193
Disease:
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
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.710 GeneticVariation BEFREE one L39X nonsense mutation was identified in 1 of 1,064 HCM proband cases with a family history of HCM, previously found to be negative for the current HCM genetic test panel. 21167350 2011
dbSNP: rs111033560
rs111033560
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007194
Disease:
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
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
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
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		T 0.710 CausalMutation CLINVAR Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A. 21282613 2011
dbSNP: rs111033560
rs111033560
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		G 0.710 CausalMutation CLINVAR Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in patients from southern Poland. 21332051 2011
dbSNP: rs111033559
rs111033559
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		0.800 GeneticVariation UNIPROT Mutations in the human phospholamban gene in patients with heart failure. 22137083 2011
dbSNP: rs754782171
rs754782171
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		0.700 GeneticVariation UNIPROT Mutations in the human phospholamban gene in patients with heart failure. 22137083 2011
dbSNP: rs397516784
rs397516784
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		T 0.700 CausalMutation CLINVAR The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase. 22155237 2012
dbSNP: rs397516784
rs397516784
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase. 22155237 2012
dbSNP: rs111033559
rs111033559
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		0.800 GeneticVariation UNIPROT Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy. 22427649 2012
dbSNP: rs111033559
rs111033559
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007193
Disease:
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: rs397516784
rs397516784
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy. 22427649 2012
dbSNP: rs754782171
rs754782171
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		0.700 GeneticVariation UNIPROT Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy. 22427649 2012
dbSNP: rs111033559
rs111033559
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		0.800 GeneticVariation UNIPROT Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A. 22707725 2012
dbSNP: rs111033559
rs111033559
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		T 0.710 CausalMutation CLINVAR Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A. 22707725 2012
dbSNP: rs397516784
rs397516784
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		T 0.700 CausalMutation CLINVAR Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A. 22707725 2012
dbSNP: rs397516784
rs397516784
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A. 22707725 2012
dbSNP: rs754782171
rs754782171
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		0.700 GeneticVariation UNIPROT Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A. 22707725 2012
dbSNP: rs397516784
rs397516784
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0878544
Disease:
Cardiomyopathies 		T 0.700 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
dbSNP: rs397516784
rs397516784
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		T 0.700 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
dbSNP: rs397516784
rs397516784
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		T 0.700 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