RYR2, ryanodine receptor 2, 6262

N. diseases: 160; N. variants: 116
Disease: Sudden death ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011071
Disease: Sudden death
Sudden death 		0.120 GeneticVariation phenotype LHGDN Arrhythmogenesis in catecholaminergic polymorphic ventricular tachycardia: insights from a RyR2 R4496C knock-in mouse model. 16825580 2006
CUI: C0011071
Disease: Sudden death
Sudden death 		0.120 GeneticVariation phenotype LHGDN The RyR2 mutations have been associated with PVA, syncope and sudden death in response to physical or emotional stress. 12106942 2002
CUI: C0011071
Disease: Sudden death
Sudden death 		0.120 Biomarker phenotype HPO