RYR2, ryanodine receptor 2, 6262

N. diseases: 160; N. variants: 116
Disease: Familial ventricular tachycardia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340485
Disease: Familial ventricular tachycardia
Familial ventricular tachycardia 		0.320 Biomarker disease CTD_human Na+-dependent SR Ca2+ overload induces arrhythmogenic events in mouse cardiomyocytes with a human CPVT mutation. 20080988 2010
CUI: C0340485
Disease: Familial ventricular tachycardia
Familial ventricular tachycardia 		0.320 Biomarker disease CTD_human Active cascade screening in primary inherited arrhythmia syndromes: does it lead to prophylactic treatment? 20513597 2010
CUI: C0340485
Disease: Familial ventricular tachycardia
Familial ventricular tachycardia 		0.320 GeneticVariation disease BEFREE Simulating the downstream effects of the sympathetic activation by PKA phosphorylation of RyR2 channels containing these FPVT missense mutations produced a consistent gain-of-function defect. 15197150 2004
CUI: C0340485
Disease: Familial ventricular tachycardia
Familial ventricular tachycardia 		0.320 GeneticVariation disease BEFREE In the present study, we demonstrate that patients with familial polymorphic ventricular tachycardia have missense mutations in the cardiac sarcoplasmic reticulum calcium release channel (ryanodine receptor type 2 [RyR2]). 11157710 2001