PLN, phospholamban, 5350

N. diseases: 90; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 CausalMutation disease CLINVAR Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. 12639993 2003
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 CausalMutation disease CLINVAR Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. 17655857 2007
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 CausalMutation disease CLINVAR Recurrent and founder mutations in the Netherlands-Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy. 23568436 2013
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 CausalMutation disease CLINVAR PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing. 21167350 2011
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 CausalMutation disease CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685 2015
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 CausalMutation disease CLINVAR Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. 22820313 2012
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 CausalMutation disease CLINVAR Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia? 26535225 2015
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 CausalMutation disease CLINVAR Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A. 22707725 2012
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 CausalMutation disease CLINVAR The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase. 22155237 2012
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 CausalMutation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 CausalMutation disease CLINVAR A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. 16432188 2006
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 Biomarker disease CTD_human
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 GeneticVariation disease UNIPROT Mutations in the human phospholamban gene in patients with heart failure. 22137083 2011
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 GeneticVariation disease UNIPROT Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. 12610310 2003
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 GeneticVariation disease UNIPROT Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A. 22707725 2012
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 GeneticVariation disease UNIPROT Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy. 22427649 2012
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 GeneticVariation disease UNIPROT A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. 16432188 2006
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 Biomarker disease GENOMICS_ENGLAND Potential new mechanisms of pro-arrhythmia in arrhythmogenic cardiomyopathy: focus on calcium sensitive pathways. 28102477 2017
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 Biomarker disease GENOMICS_ENGLAND Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. 30681346 2019
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 Biomarker disease GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049 2010
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017