RYR2, ryanodine receptor 2, 6262

N. diseases: 160; N. variants: 116
Disease: Paroxysmal familial ventricular fibrillation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340493
Disease: Paroxysmal familial ventricular fibrillation
Paroxysmal familial ventricular fibrillation 		0.120 GeneticVariation disease BEFREE Altered RyR2 regulation by the calmodulin F90L mutation associated with idiopathic ventricular fibrillation and early sudden cardiac death. 25036739 2014
CUI: C0340493
Disease: Paroxysmal familial ventricular fibrillation
Paroxysmal familial ventricular fibrillation 		0.120 GeneticVariation disease BEFREE Arrhythmias documented in probands were: 14 of 30 bidirectional ventricular tachycardia, 12 of 30 polymorphic ventricular tachycardia, and 4 of 30 catecholaminergic idiopathic ventricular fibrillation; RyR2 mutations were identified in 14 of 30 probands (36% bidirectional ventricular tachycardia, 58% polymorphic ventricular tachycardia, 50% catecholaminergic idiopathic ventricular fibrillation) and in 9 family members (4 silent gene carriers). 12093772 2002
CUI: C0340493
Disease: Paroxysmal familial ventricular fibrillation
Paroxysmal familial ventricular fibrillation 		0.120 GeneticVariation disease CLINVAR