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 In this study, we analyzed the genomic DNAs prepared for determination of all the 106 exons of the RyR1 gene from blood samples donated by two MH patients with extremely high CICR rates in their biopsied skeletal muscles and a clear history of MH incidence. 11928716

2002

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Subsequent sequencing of RYR1 mutational hot spots revealed a nucleotide substitution of C to T at position 7062, causing a novel amino acid change from Arg2355 to Cys associated with MH in the family. 12123492

2003

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Linkage analysis of the RYR1 gene region at 19q13 was performed in a large Brazilian family and a distinct disease co-segregating haplotype was revealed in the majority of members with diagnosis of MH. 12123492

2003

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT We undertook a mutation analysis of RYR1 gene testing for the presence of five point mutations; in one pedigree a C1840-->T point mutation was detected, strictly segregating with in vitro MH susceptibility. 7751854

1995

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT The skeletal muscle ryanodine receptor (RYR1) gene has been linked to porcine and human MH. 1774074

1992

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 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 Molecular genetic testing based on RYR1 mutations for MH diagnosis is challenging, because the causative mutations, most of which are private, are distributed throughout the RYR1 gene. 19191329

2009

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 Single strand conformational polymorphism analysis was used to screen exons 43 and 44 in the skeletal muscle ryanodine receptor gene from 17 positively diagnosed members of families in which chromosome 19-linked malignant hyperthermia (MH) was segregating. 7881417

1995

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT The ryanodine receptor (RYR1) is mutated in a number of MH pedigrees, some members of which also have central core disease (CCD), an inherited myopathy closely associated with MH. 9497245

1998

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT The present report documents, in exon 44 of RYR1 in two unrelated, MH-susceptible families, a 3-bp deletion that results in deletion of a conserved glutamic acid at position 2347. 11389482

2001

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT To date, the ryanodine receptor gene (RYR1) has been shown to be mutated in a small number of malignant hyperthermia susceptible (MHS) cases. 8012359

1994

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia. 9450902

1998

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype. 11389482

2001

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel. 27586648

2016

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia. 10612851

2000

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Performing an in-depth mutation screening of the RYR1 transcript sequence in 36 unrelated MH susceptible (MHS) patients, we identified 17 novel, five rare, and eight non-disease-causing variants in 23 patients. 19191329

2009

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT In this study, we examined RYR1 mutations in a large number of North American MH-susceptible (MHS) subjects without prior genetic diagnosis. 23558838

2013

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Maximal contractures in the caffeine-halothane contracture test were greater in those who had a known MH mutation or variant of uncertain significance in RYR1 than in those who did not. 23558838

2013

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT The other three polymorphic substitutions failed to segregate with malignant hyperthermia in those families in which they occurred, implying that they represent polymorphisms with little or no effect on the function of the RYR1 gene. 1354642

1992

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 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 Our study confirms that MH is genetically heterogeneous and that a consistent number of cases are not due to RYR1 mutations. 20681998

2011

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia. 12123492

2003