Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation UNIPROT Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. 11157710

2001

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 Biomarker GENOMICS_ENGLAND Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. 11157710

2001

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 CausalMutation CLINVAR Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). 11159936

2001

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation UNIPROT Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. 11208676

2001

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 Biomarker BEFREE The cardiac ryanodine receptor (RyR2), the major calcium release channel on the sarcoplasmic reticulum (SR) in cardiomyocytes, has recently been shown to be involved in at least two forms of sudden cardiac death (SCD): (1) Catecholaminergic polymorphic ventricular tachycardia (CPVT) or familial polymorphic VT (FPVT); and (2) Arrhythmogenic right ventricular dysplasia type 2 (ARVD2). 11807805

2002

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 Biomarker BEFREE Genetic analysis identifies two groups of patients: Patients with nongenotyped CPVT are predominantly women and become symptomatic later in life; patients with RyR2 CPVT become symptomatic earlier, and men are at higher risk of cardiac events. 12093772

2002

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation UNIPROT Genetic analysis identifies two groups of patients: Patients with nongenotyped CPVT are predominantly women and become symptomatic later in life; patients with RyR2 CPVT become symptomatic earlier, and men are at higher risk of cardiac events. 12093772

2002

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 CausalMutation CLINVAR Genetic analysis identifies two groups of patients: Patients with nongenotyped CPVT are predominantly women and become symptomatic later in life; patients with RyR2 CPVT become symptomatic earlier, and men are at higher risk of cardiac events. 12093772

2002

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 CausalMutation CLINVAR 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

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 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

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE RyR2 mutations suggested to cause defective Ca2+ channel function have recently been identified in catecholaminergic polymorphic ventricular tachycardia (CPVT) and arrhythmogenic right ventricular dysplasia (ARVD) affected individuals. 12919952

2003

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE These data, combined with our previous findings, show that RYR2 mutations are present in at least 6/16 (38%) of the catecholaminergic polymorphic ventricular tachycardia families, while CASQ2 mutations must be a rare cause of CPVT. 14571276

2003

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation UNIPROT These data, combined with our previous findings, show that RYR2 mutations are present in at least 6/16 (38%) of the catecholaminergic polymorphic ventricular tachycardia families, while CASQ2 mutations must be a rare cause of CPVT. 14571276

2003

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 CausalMutation CLINVAR These data, combined with our previous findings, show that RYR2 mutations are present in at least 6/16 (38%) of the catecholaminergic polymorphic ventricular tachycardia families, while CASQ2 mutations must be a rare cause of CPVT. 14571276

2003

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE Mutant RyR2, found in patients with catecholaminergic polymorphic ventricular tachycardia, has decreased calstabin2 binding affinity, which can trigger ventricular arrhythmias and sudden cardiac death after stress and exercise. 14659699

2003

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation UNIPROT Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias. 15046072

2004

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation UNIPROT Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias. 15046073

2004

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation CLINVAR Denaturing HPLC-based approach for detecting RYR2 mutations involved in malignant arrhythmias. 15131021

2004

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE Recently, several groups have delineated the functional effects of the RyR2 mutations associated with CPVT and ARVD2. 15176428

2004

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE In patients with catecholaminergic polymorphic ventricular tachycardia (CPVT), RyR2 missense mutations cause reduced calstabin2 binding to RyR2. 15201156

2004

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE Several mutations in the genes encoding RyR1 and RyR2 have been identified in autosomal dominant diseases of skeletal and cardiac muscle, such as malignant hyperthermia (MH), central core disease (CCD), catecholaminergic polymorphic ventricular tachycardia (CPVT), and arrhythmogenic right ventricular dysplasia type 2 (ARVD2). 15336972

2004

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE In cardiac muscle, RYR2 mutations lead to catecholaminergic polymorphic ventricular tachycardia and other cardiac arrhythmias. 15336975

2004

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 CausalMutation CLINVAR Mutant cardiac ryanodine receptors and ventricular arrhythmias: is 'gain-of-function' obligatory? 15364606

2004

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 CausalMutation CLINVAR Functional heterogeneity of ryanodine receptor mutations associated with sudden cardiac death. 15364613

2004

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation UNIPROT Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 15466642

2004