Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.850 | GeneticVariation | UNIPROT | A novel RyR2 mutation in a 2-year-old baby presenting with atrial fibrillation, atrial flutter, and atrial ectopic tachycardia. | 24793461 | 2014 |
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0.850 | GeneticVariation | UNIPROT | Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. | 12093772 | 2002 |
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0.850 | GeneticVariation | BEFREE | Using CPVT mouse models (Casq2(-/-) and RyR2(R4496C/+) mice), the effect of increasing sinus heart rate was tested by pretreatment with atropine and by atrial overdrive pacing. | 23295832 | 2013 |
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0.850 | GeneticVariation | UNIPROT | Enhanced Cytosolic Ca2+ Activation Underlies a Common Defect of Central Domain Cardiac Ryanodine Receptor Mutations Linked to Arrhythmias. | 27733687 | 2016 |
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0.850 | GeneticVariation | UNIPROT | Structural insights into the human RyR2 N-terminal region involved in cardiac arrhythmias. | 25372681 | 2014 |
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0.850 | GeneticVariation | UNIPROT | Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias. | 15046072 | 2004 |
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0.850 | 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 |
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0.850 | GeneticVariation | UNIPROT | Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. | 15466642 | 2004 |
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0.850 | GeneticVariation | UNIPROT | Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. | 11208676 | 2001 |
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0.850 | GeneticVariation | BEFREE | The increased activity of RyR2(R4496C) in SAN leads to an unanticipated decrease in SAN automaticity by a Ca(2+)-dependent decrease of I(Ca,L) and sarcoplasmic reticulum Ca(2+) depletion during diastole, identifying subcellular pathophysiological alterations contributing to the SAN dysfunction in catecholaminergic polymorphic ventricular tachycardia patients. | 22711277 | 2012 |
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0.850 | GeneticVariation | UNIPROT | Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. | 11157710 | 2001 |
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0.850 | GeneticVariation | UNIPROT | Loss of luminal Ca2+ activation in the cardiac ryanodine receptor is associated with ventricular fibrillation and sudden death. | 17984046 | 2007 |
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0.850 | 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 |
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0.850 | 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 |
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0.850 | GeneticVariation | BEFREE | For the most performant of these siRNAs (siRYR2-U10), we evaluated the efficacy of an adeno-associated serotype 9 viral vector (AAV9) expressing miRYR2-U10 in correcting RyR2 (Ryanodine Receptor type 2 protein) function after in vivo delivery by intraperitoneal injection in neonatal and adult RyR2<sup>R4496C/+</sup> (mice heterozygous for the R4496C mutation in the RyR2) heterozygous CPVT mice. | 28620067 | 2017 |
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0.850 | GeneticVariation | BEFREE | Deletion mutants of unc-68, and in particular the point mutant UNC-68(R4743C), analogous to the established human CPVT mutant RyR2(R4497C), were unable to follow 3.7 Hz pacing, with progressive defects during long stimulus trains. | 29235522 | 2017 |
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0.850 | 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 |
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0.850 | GeneticVariation | BEFREE | We report expression of three CPVT-linked human RyR2 (hRyR2) mutations (S2246L, N4104K, and R4497C) in HL-1 cardiomyocytes displaying correct targeting to the endoplasmic reticulum. | 12919952 | 2003 |
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0.850 | GeneticVariation | UNIPROT | Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias. | 15046073 | 2004 |
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0.830 | GeneticVariation | UNIPROT | ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. | 23788249 | 2013 |
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0.830 | GeneticVariation | BEFREE | To determine if somatic in vivo genome editing using the CRISPR/Cas9 system delivered by adeno-associated viral (AAV) vectors could correct catecholaminergic polymorphic ventricular tachycardia arrhythmias in mice heterozygous for RyR2 mutation R176Q (R176Q/+). | 30355031 | 2018 |
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0.830 | GeneticVariation | BEFREE | Confocal microscopy was used to assess the effects of tetracaine and 9 derivatives (EL1-EL9) on spontaneous Ca<sup>2+</sup> sparks in ventricular myocytes isolated from RyR2-R176Q/+ mice with CPVT. | 27838126 | 2017 |
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0.830 | GeneticVariation | UNIPROT | ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. | 25356965 | 2015 |
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0.830 | GeneticVariation | UNIPROT | Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. | 23994779 | 2013 |
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0.830 | GeneticVariation | UNIPROT | Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. | 27854360 | 2017 |