Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
0.200 GeneticVariation disease BEFREE Mutations in the cardiac ryanodine receptor Ca<sup>2+</sup> release channel (RyR2) can cause deadly ventricular arrhythmias and atrial fibrillation (AF). 31028179 2019
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
0.200 GeneticVariation disease BEFREE A pathogenic mutation in RYR2 (p.P164S) is the likely cause of USD in a Chinese family associated with malignant ventricular arrhythmias. 29132927 2019
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
0.200 PosttranslationalModification disease BEFREE Essential role of ryanodine receptor 2 phosphorylation in the effect of azumolene on ventricular arrhythmia vulnerability in a rabbit heart model. 30203424 2018
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
0.200 Biomarker disease BEFREE Flecainide Reduces Ventricular Arrhythmias in Patients With Genotype RyR2-positive Catecholaminergic Polymorphic Ventricular Tachycardia. 28789916 2018
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
0.200 AlteredExpression disease BEFREE Our results suggest that HFD increases the activity of RyR2 channels via a redox-dependent mechanism, favoring the appearance of ventricular arrhythmias. 29439404 2018
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
0.200 GeneticVariation disease BEFREE We identified an RyR2 variant associated with reduced Ca<sup>2+</sup> release and short-coupled torsades de pointes ventricular arrhythmia. 27756708 2017
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
0.200 GeneticVariation disease BEFREE We discuss novel cellular mechanisms that appear more suitable to explain ventricular arrhythmias due to RyR2 loss-of-function mutations. 25480325 2015
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
0.200 GeneticVariation disease BEFREE RyR2 Common Gene Variant G1886S and the Risk of Ventricular Arrhythmias in ICD Patients with Heart Failure. 25773045 2015
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
0.200 AlteredExpression disease BEFREE Abnormal regulation of RyR2 contributes to heart failure, and atrial and ventricular arrhythmias. 23507255 2013
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
0.200 GeneticVariation disease BEFREE Atrial overdrive pacing completely prevented VA in 16 of 19 (84%) Casq2(-/-) and in 7 of 8 (88%) RyR2(R4496C/+) mice and significantly reduced ventricular premature beats in both CPVT models (P<0.05). 23295832 2013
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
0.200 GeneticVariation disease BEFREE The aim of this study was to assess exercise test results and efficacy of therapy with a β blocker (acebutolol) in ryanodine receptor type 2 (RyR2) mutation carriers with documented ventricular arrhythmias (VAs) and long-term follow-up. 22221940 2012
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
0.200 GeneticVariation disease BEFREE In catecholaminergic polymorphic ventricular tachycardia (CPVT), an inherited disease characterized by stress-induced ventricular arrhythmias in young patients with structurally normal hearts, autosomal dominant mutations in RYR2 or recessive mutations in calsequestrin lead to aberrant diastolic Ca(2+) release from the SR causing arrhythmogenic delayed after depolarizations (DADs). 22174035 2012
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
0.200 Biomarker disease BEFREE Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) is an inherited cardiac disorder that is caused by mutations in the cardiac ryanodine receptor type 2 gene (RYR2) and is characterized by stress-induced ventricular arrhythmia that can lead to sudden cardiac death in young individuals. 22178870 2011
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
0.200 GeneticVariation disease BEFREE CPVT-associated RyR2 mutations cause fatal ventricular arrhythmias in young individuals during β-adrenergic stimulation. 21659649 2011
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
0.200 GeneticVariation disease BEFREE In conclusion, the A allele of rs3766871 in RYR2 not only associates with ventricular arrhythmias, but also serves as an independent predictor of sudden cardiac death, and the A allele of rs790896 in RYR2 is a protective factor against sudden cardiac death in patients with CHF. 20408814 2010
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
0.200 Biomarker disease BEFREE We conclude that the cytosolic loop between TM 6 and TM 7a plays an important role in determining the SOICR threshold and that the alteration of the threshold for SOICR is a common mechanism for RyR2-associated ventricular arrhythmia. 18092949 2008
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
0.200 GeneticVariation disease BEFREE Mutant RyR2 channels give rise to spontaneous release of calcium (Ca(2+)) from the SR during diastole, which enhances the probability of ventricular arrhythmias. 17956253 2007
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
0.200 GeneticVariation disease BEFREE Mutations of the cardiac ryanodine receptor type 2 (RyR2) gene are known to cause effort-induced polymorphic ventricular arrhythmia, syncope and sudden death. 17062961 2006
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
0.200 Biomarker disease BEFREE Understanding the causes of aberrant Ca2+ release via RyR2 may assist in the development of effective treatments for the ventricular arrhythmias that often leads to sudden death in HF and in CPVT. 17052226 2006
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
0.200 GeneticVariation disease BEFREE More than 80 mutations in the skeletal RyR1 have been identified and linked to malignant hyperthermia, central core disease or multi-minicore disease, while more than 40 mutations in the cardiac RyR2 lead to ventricular arrhythmias and sudden cardiac death in patients with structurally normal hearts. 16909197 2006
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
0.200 GeneticVariation disease BEFREE We examined the influence of the calcium channel blockers, verapamil and magnesium, on exercise-induced ventricular arrhythmias in patients with RyR2 mutations. 15720454 2005
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
0.200 PosttranslationalModification disease BEFREE Increased RyR2 phosphorylation and pathologically increased calstabin2 dissociation during exercise results in aberrant diastolic calcium release, which may trigger ventricular arrhythmias and sudden cardiac death. 15201156 2004
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
0.200 Biomarker disease BEFREE Thus, enhancing the binding of calstabin2 to RyR2 may be a therapeutic strategy for common ventricular arrhythmias. 15073377 2004
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
0.200 GeneticVariation disease BEFREE Sympathetic activation during exercise induces ventricular arrhythmias above a threshold heart rate in RyR2 mutation carriers. 15197150 2004
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
0.200 GeneticVariation disease 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