Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Malignant hyperthermia in infancy and identification of novel RYR1 mutation. 10823104

2000

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Malignant hyperthermia (MH) is a pharmacogenetical complication of general anesthesia resulting from abnormal Ca2+-induced Ca2+ release (CICR) via the type 1 ryanodine receptor (RyR1) in skeletal muscles. 11928716

2002

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees. 12066726

2002

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene. 15448513

2004

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Type I ryanodine receptor 1 is the primary gene responsible for susceptibility to MH as well as central core disease, a congenital myopathy that predisposes susceptibility to MH. 15448513

2004

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Type 1 ryanodine receptor (RYR1) is a Ca<sup>2+</sup> release channel in the sarcoplasmic reticulum of skeletal muscle and is mutated in some muscle diseases, including malignant hyperthermia (MH) and central core disease (CCD). 27586648

2016

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT A linkage between the MH trait and the RYR1 locus in chromosome 19 was demonstrated, whereas no already known mutations were found. 14732627

2004

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT A novel arginine 328 to tryptophan mutation in RYR1 was detected by direct sequencing of the RYR1 transcript from leukocytes of one MH-susceptible individual. 12883402

2003

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT About half of malignant hyperthermia (MH) cases are associated with skeletal muscle ryanodine receptor 1 (RYR1) and calcium channel, voltage-dependent, L type, α1S subunit (CACNA1S) gene mutations, leaving many with an unknown cause. 24013571

2013

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Although a single-amino-acid deletion appears to be a subtle change in the protein, the deletion of Glu2347 from RYR1 produces an unusually large electrically evoked contraction tension in MH-positive individuals, suggesting that this deletion produces an alteration in skeletal-muscle calcium regulation, even in the absence of pharmacological agents. 11389482

2001

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Although p.Arg2508 of RYR1 is located outside hotspots, several mutations or variants (including the known MH causative mutation p.Arg2508Cys) have been identified in this region. 26381711

2015

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT An A>G change at nucleotide 7025 was detected in the RYR1 gene in the HypoPP/MH-susceptible patient. 15221887

2004

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Any of these 4 mutations in RYR1 p.Arg2508 may cause important changes related to MH. 26381711

2015

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Aside from the in vitro contracture test, genetic screening for causative RYR1 mutations is the established procedure to diagnose susceptibility to malignant hyperthermia (MH). 26631338

2016

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT CCD has recently been shown to be tightly linked to the ryanodine receptor gene (RYR1) and mutations in this gene are known to be present in MH. 8220423

1993

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. 16163667

2006

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Defects in the ryanodine receptor (RYR1) gene are associated with malignant hyperthermia (MH), an autosomal dominant disorder of skeletal muscle and one of the main causes of death resulting from anaesthesia. 9138151

1997

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees. 7849712

1995

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region. 26115329

2016

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47. 19685112

2009

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Functional characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia. 26631338

2016

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease. 20142353

2010

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Furthermore, if an MH mutation was identified in an index patient, all relatives were screened for their family specific RYR1 defect. 12059893

2002

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Genetic analysis revealed a novel RYR1 mutation that substitutes arginine 2452 for tryptophan in a region of the calcium channel mutated in several other MH pedigrees. 10823104

2000

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Genetic mutations of ryanodine receptor 1 (RYR1), which are considered to cause MH, are found mainly in 3 regions called "hotspots." 26381711

2015