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: 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 CausalMutation disease CLINVAR
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		0.700 Biomarker disease HPO
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.440 Biomarker group GENOMICS_ENGLAND
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.440 GeneticVariation group CLINVAR
CUI: C2677794
Disease: Stress-induced polymorphic ventricular tachycardia
Stress-induced polymorphic ventricular tachycardia 		0.420 GeneticVariation disease CLINVAR
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia 		0.200 Biomarker disease HPO
CUI: C0039070
Disease: Syncope
Syncope 		0.150 Biomarker phenotype HPO
CUI: C0011071
Disease: Sudden death
Sudden death 		0.120 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.120 Biomarker phenotype HPO
CUI: C0340493
Disease: Paroxysmal familial ventricular fibrillation
Paroxysmal familial ventricular fibrillation 		0.120 GeneticVariation disease CLINVAR
CUI: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation 		0.110 CausalMutation disease CLINVAR
CUI: C0042571
Disease: Vertigo
Vertigo 		0.100 Biomarker phenotype HPO
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		0.100 Biomarker phenotype HPO
CUI: C0344424
Disease: Ventricular Arrhythmia by ECG Finding
Ventricular Arrhythmia by ECG Finding 		0.100 Biomarker phenotype HPO
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1883529
Disease: Ventricular Arrhythmia, CTCAE 3.0
Ventricular Arrhythmia, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C2063326
Disease: Right ventricular cardiomyopathy
Right ventricular cardiomyopathy 		0.100 Biomarker disease HPO
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		0.100 GeneticVariation disease CLINVAR
CUI: C4476545
Disease: Dilatation of the ventricular cavity
Dilatation of the ventricular cavity 		0.100 Biomarker phenotype HPO
CUI: C4553764
Disease: Ventricular Arrhythmia, CTCAE 5.0
Ventricular Arrhythmia, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		0.090 Biomarker disease BEFREE Co-segregation of MH with RYR markers, resulting in a lod score of 4.20 at a linkage distance of zero centimorgans, indicates that MH is likely to be caused by mutations in the RYR gene. 1967823 1990
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		0.090 GeneticVariation disease BEFREE In a previous study, this test was used to establish linkage between the human gene for MH susceptibility and the ryanodine receptor (RYR) gene. 2064058 1991
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.420 Biomarker disease CLINGEN Molecular cloning of cDNA encoding the Ca2+ release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum. 2380170 1990
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		0.090 GeneticVariation disease BEFREE RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility. 8828983 1996