RYR2, ryanodine receptor 2, 6262

N. diseases: 160; N. variants: 116
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1349176732
rs1349176732
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.700 GeneticVariation UNIPROT Enhanced Cytosolic Ca2+ Activation Underlies a Common Defect of Central Domain Cardiac Ryanodine Receptor Mutations Linked to Arrhythmias. 27733687 2016
dbSNP: rs1349176732
rs1349176732
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.700 GeneticVariation UNIPROT A novel RyR2 mutation in a 2-year-old baby presenting with atrial fibrillation, atrial flutter, and atrial ectopic tachycardia. 24793461 2014
dbSNP: rs1349176732
rs1349176732
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.700 GeneticVariation UNIPROT Structural insights into the human RyR2 N-terminal region involved in cardiac arrhythmias. 25372681 2014
dbSNP: rs1349176732
rs1349176732
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.700 GeneticVariation UNIPROT Loss of luminal Ca2+ activation in the cardiac ryanodine receptor is associated with ventricular fibrillation and sudden death. 17984046 2007
dbSNP: rs1349176732
rs1349176732
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.700 GeneticVariation UNIPROT Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. 16188589 2005
dbSNP: rs1349176732
rs1349176732
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.700 GeneticVariation UNIPROT Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 15466642 2004
dbSNP: rs1349176732
rs1349176732
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.700 GeneticVariation UNIPROT Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases. 15544015 2004
dbSNP: rs1349176732
rs1349176732
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.700 GeneticVariation UNIPROT Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias. 15046072 2004
dbSNP: rs1349176732
rs1349176732
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.700 GeneticVariation UNIPROT Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias. 15046073 2004
dbSNP: rs1349176732
rs1349176732
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.700 GeneticVariation UNIPROT Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms. 14571276 2003
dbSNP: rs1349176732
rs1349176732
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.700 GeneticVariation UNIPROT Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers. 12106942 2002
dbSNP: rs1349176732
rs1349176732
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.700 GeneticVariation UNIPROT Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. 12093772 2002
dbSNP: rs1349176732
rs1349176732
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.700 GeneticVariation UNIPROT Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. 11157710 2001
dbSNP: rs1349176732
rs1349176732
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.700 GeneticVariation UNIPROT Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. 11208676 2001