PLN, phospholamban, 5350

N. diseases: 90; N. variants: 6
Disease: CARDIOMYOPATHY, DILATED, 1P ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		0.800 GeneticVariation UNIPROT Mutations in the human phospholamban gene in patients with heart failure. 22137083 2011
dbSNP: rs111033559
rs111033559
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		0.800 GeneticVariation UNIPROT A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. 16432188 2006
dbSNP: rs111033559
rs111033559
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		0.800 GeneticVariation UNIPROT Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. 12610310 2003
dbSNP: rs111033559
rs111033559
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		T 0.800 CausalMutation CLINVAR
dbSNP: rs111033560
rs111033560
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
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
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
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
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
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: rs397516784
rs397516784
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		T 0.700 CausalMutation CLINVAR Recurrent and founder mutations in the Netherlands-Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy. 23568436 2013
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: 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: 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: 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: 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: 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: 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: 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: rs397516784
rs397516784
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
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: rs754782171
rs754782171
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		0.700 GeneticVariation UNIPROT A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. 16432188 2006
dbSNP: rs111033560
rs111033560
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
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: rs754782171
rs754782171
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		0.700 GeneticVariation UNIPROT Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. 12610310 2003