RYR2, ryanodine receptor 2, 6262

N. diseases: 160; N. variants: 116
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.400 GeneticVariation disease BEFREE Several disease-linked mutations of RyR have been reported in patients with catecholaminergic polymorphic ventricular tachycardia (CPVT) or arrhythmogenic right ventricular cardiomyopathy type 2 (ARVC2). 18362417 2008
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.400 GeneticVariation disease BEFREE Arrhythmogenic right ventricular dysplasia/cardiomyopathy type 2 (ARVD2, OMIM 600996) and stress-induced polymorphic ventricular tachycardia (VTSIP, OMIM 604772) are two cardiac diseases causing juvenile sudden death, both associated with mutations in the RyR2 calcium channel. 12459180 2002
CUI: C1832931
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 		0.910 Biomarker disease GENOMICS_ENGLAND Short QT syndrome. 16301704 2005
CUI: C1832931
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 		0.910 GeneticVariation disease BEFREE Recently, several groups have delineated the functional effects of the RyR2 mutations associated with CPVT and ARVD2. 15176428 2004
CUI: C1832931
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 		0.910 Biomarker disease GENOMICS_ENGLAND Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young. 27114410 2016
CUI: C1832931
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 		0.910 Biomarker disease CTD_human
CUI: C1832931
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 		0.910 Biomarker disease GENOMICS_ENGLAND Mechanisms of Disease: ryanodine receptor defects in heart failure and fatal arrhythmia. 16391617 2006
CUI: C1832931
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 		0.910 Biomarker disease GENOMICS_ENGLAND Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features. 17875969 2007
CUI: C1832931
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 		0.910 CausalMutation disease CLINVAR
CUI: C1832931
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 		0.910 Biomarker disease MGD Mice with the R176Q cardiac ryanodine receptor mutation exhibit catecholamine-induced ventricular tachycardia and cardiomyopathy. 16873551 2006
CUI: C1832931
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 		0.910 Biomarker disease 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
CUI: C1832931
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 		0.910 GeneticVariation disease UNIPROT Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). 11159936 2001
CUI: C0004096
Disease: Asthma
Asthma 		0.010 GeneticVariation disease BEFREE Imputation analyses based on the 1000 Genomes Project uncovered additional RYR2 variants associated with asthma. 23829686 2013
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.010 GeneticVariation disease BEFREE Stratified analysis shows that RYR2 rs16835904 TC-TT genotype facilitated the risk of astrocytoma in male (OR = 1.93, 95% CI 1.15-3.24, p = 0.011). 31440994 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.100 GeneticVariation disease BEFREE We conclude that the S4153R mutation is a gain-of-function RYR2 mutation associated with a clinical phenotype characterized by both CPVT and atrial fibrillation. 23498838 2013
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.100 Biomarker disease BEFREE We tested the hypothesis that reduced PPP1R3A levels contribute to AF pathogenesis by reducing PP1 binding to both RyR2 and PLN. 31185731 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.100 GeneticVariation disease BEFREE We examined AF susceptibility in these three CPVT mouse models harboring RyR2 mutations to explore the role of diastolic SR Ca2+ leak in AF. 22828895 2012
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.100 AlteredExpression disease BEFREE Here, we identify the 4q25 variant rs13143308T as a genetic risk marker for AF, specifically associated with excessive calcium release and spontaneous electrical activity linked to increased SERCA2 expression and RyR2 phosphorylation. 30219899 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.100 GeneticVariation disease BEFREE Collectively, our results indicate that alterations of RyR2 and mitochondrial ROS generation form a vicious cycle in the development of AF. 26169582 2015
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.100 GeneticVariation disease BEFREE Compared with the control group, the ibrutinib group showed (1) a higher incidence and longer duration of AF with transesophageal burst stimulation; (2) increased left atrial mass, as indicated by echocardiography; (3) significant myocardial fibrosis in the left atrium on Masson trichrome staining; (4) Ca<sup>2+</sup> handling disorders in atrial myocytes, such as reduced Ca<sup>2+</sup> transient amplitude, enhanced spontaneous Ca<sup>2+</sup> release, and reduced sarcoplasmic Ca<sup>2+</sup> capacity; (5) enhanced delayed afterdepolarization in atrial myocytes; and (6) increased CaMKII expression and phosphorylation of RyR2-Ser2814 and PLN-Thr17. 30959203 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.100 AlteredExpression disease BEFREE We found that all patients had elevated RyR2 protein expression; however, a cohort of patients with AF had high miR-93, miR-106b, and miR-25 expression. 30496756 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.100 Biomarker disease BEFREE Knock-in mice with constitutively phosphorylated RyR2 at Ser2814 showed a higher incidence of Ca(2+) sparks and increased susceptibility to pacing-induced AF compared with controls. 22456474 2012
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.100 GeneticVariation disease BEFREE The presence of both cardiomegaly and CHF in the two affected males and atrial fibrillation in one are consistent with abnormal RyR2 channel function. 22814392 2012
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.100 PosttranslationalModification disease LHGDN Atrial tissue from both the AF dogs and humans with chronic AF showed a significant increase in PKA phosphorylation of RyR2, with a corresponding decrease in calstabin2 binding to the channel. 15851612 2005
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.100 GeneticVariation disease BEFREE CACNA1C, RyR2) that were associated with LAD, LVA and AF type. 27857207 2016