Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		1.000 Biomarker GENOMICS_ENGLAND Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals. 28404607

2017
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		1.000 Biomarker GENOMICS_ENGLAND A mutational analysis of the major long-QT syndrome-susceptibility genes (KCNQ1, KCNH2, and SCN5A) and catecholaminergic polymorphic ventricular tachycardia-susceptibility gene (RYR2) identified a putative pathogenic mutation in 11 cases. 27114410

2016
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		1.000 Biomarker GENOMICS_ENGLAND A novel mutation in the cardiac ryanodine receptor gene (RyR2) in a patient with an unequivocal LQTS. 21126784

2011
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		1.000 Biomarker GENOMICS_ENGLAND Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features. 17875969

2007
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		1.000 Biomarker GENOMICS_ENGLAND Mechanisms of Disease: ryanodine receptor defects in heart failure and fatal arrhythmia. 16391617

2006
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		1.000 Biomarker GENOMICS_ENGLAND Short QT syndrome. 16301704

2005
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
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