PLN, phospholamban, 5350

N. diseases: 90; N. variants: 6
Disease: Cardiac Arrhythmia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.040 GeneticVariation phenotype BEFREE Upon cardiac I/R, WT, and S2814D hearts exhibited abundant arrhythmias that were prevented by PLN ablation. 30169578 2019
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.040 GeneticVariation phenotype BEFREE The deletion of Arginine 14 of the phosholamban gene (PLN p.R14del) is associated with the pathogenesis of an inherited form of cardiomyopathy with prominent arrhythmias. 31513489 2019
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.040 GeneticVariation phenotype BEFREE Recently, a nondesmosomal phospholamban (PLN) mutation (c.40_42delAGA) has been identified, causing dilated cardiomyopathy and arrhythmias. 23270881 2013
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.040 Biomarker phenotype BEFREE Abnormal RyR2, FKBP12.6, SERCA2a, and PLB are also involved in the initiation of cardiac arrhythmias. 16038623 2005