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: C1868938
Disease: End stage cardiac failure
End stage cardiac failure
0.030 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: C1868938
Disease: End stage cardiac failure
End stage cardiac failure
0.030 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: C1868938
Disease: End stage cardiac failure
End stage cardiac failure
0.030 AlteredExpression disease BEFREE Sarcoplasmic reticulum Ca2+ATPase and phospholamban mRNA and protein levels in end-stage heart failure due to ischemic or dilated cardiomyopathy. 8862513 1996