RYR1, ryanodine receptor 1, 6261

N. diseases: 320; N. variants: 248
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 		0.010 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