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: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia
0.160 Biomarker disease HPO
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia
0.160 GeneticVariation disease BEFREE This seems to be mainly attributable to a high prevalence of malignant ventricular arrhythmias and end-stage heart failure in LMNA and PLN mutation carriers. 23349452 2013
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia
0.160 GeneticVariation disease BEFREE Phospholamban R14del mutation carriers are at high risk for malignant ventricular arrhythmias and end-stage heart failure, with left ventricular ejection fraction <45% and sustained or nonsustained ventricular tachycardia as independent risk factors. 24909667 2014
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia
0.160 GeneticVariation disease BEFREE This is the first mechanistic evidence that increased PLN inhibition may impact both SR Ca(2+) uptake and Ca(2+) release activities and suggests that the human R25C-PLN may be a prognostic factor for increased ventricular arrhythmia risk in DCM carriers. 25852082 2015
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia
0.160 GeneticVariation disease BEFREE A pooled analysis of available genotype-phenotype data shows a higher prevalence of sudden cardiac death (SCD), cardiac transplantation, or ventricular arrhythmias in LMNA and PLN mutation carriers compared to sarcomeric gene mutations. 27576561 2017
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia
0.160 GeneticVariation disease BEFREE Phospholamban (PLN) p.Arg14del cardiomyopathy is associated with an increased risk of malignant ventricular arrhythmias and severe heart failure and a poor prognosis from late adolescence. 28759816 2018
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia
0.160 GeneticVariation disease BEFREE This study sought to investigate ventricular function, the extent and localization of myocardial fibrosis and the associations with ECG features and VA in PLN p.Arg14del mutation carriers. 29635323 2019