×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
0.910
GeneticVariation
disease
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
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
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
0.910
Biomarker
disease
GENOMICS_ENGLAND
Short QT syndrome.
16301704
2005
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
0.910
Biomarker
disease
GENOMICS_ENGLAND
Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young.
27114410
2016
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
0.910
Biomarker
disease
CTD_human
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
0.910
Biomarker
disease
GENOMICS_ENGLAND
Mechanisms of Disease: ryanodine receptor defects in heart failure and fatal arrhythmia.
16391617
2006
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
0.910
Biomarker
disease
GENOMICS_ENGLAND
Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features.
17875969
2007
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
0.910
Biomarker
disease
MGD
Mice with the R176Q cardiac ryanodine receptor mutation exhibit catecholamine-induced ventricular tachycardia and cardiomyopathy.
16873551
2006
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
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
×
Entrez Id:
7043
Gene Symbol:
TGFB3
TGFB3
0.010
Biomarker
disease
BEFREE
Since both loci ARVD1 and ARVD2 map in proximity of alpha-actinin genes, the possible implication of these myofibrillar proteins in the pathogenesis of ARVD is discussed.
8589694
1995
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
0.910
CausalMutation
disease
CLINVAR
×
Entrez Id:
29119
Gene Symbol:
CTNNA3
CTNNA3
0.300
GermlineCausalMutation
disease
ORPHANET
Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy.
23136403
2013
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.300
GermlineCausalMutation
disease
ORPHANET
Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes.
21810661
2011
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.300
GermlineCausalMutation
disease
ORPHANET
Clinical utility gene card for: arrhythmogenic right ventricular cardiomyopathy (ARVC).
23736219
2014
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.300
GermlineCausalMutation
disease
ORPHANET
Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy.
22199124
2012
×
Entrez Id:
11155
Gene Symbol:
LDB3
LDB3
0.300
GermlineCausalMutation
disease
ORPHANET
A mutation in the Z-line Cypher/ZASP protein is associated with arrhythmogenic right ventricular cardiomyopathy.
25041374
2015