PLN, phospholamban, 5350

N. diseases: 90; N. variants: 6
Disease: Cardiomyopathy, Familial Idiopathic ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761056344
rs761056344
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic 		0.020 GeneticVariation BEFREE Here we use solid-state NMR spectroscopy to investigate the structural dynamics of two lethal PLN mutations, R9C and R25C, which lead to DCM. 29501609 2018
dbSNP: rs761056344
rs761056344
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic 		0.020 GeneticVariation 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