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 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 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 Twenty-one polymorphic sequence variants of the RYR1 gene, including 13 restriction fragment length polymorphisms (RFLPs), were identified by sequence analysis of human ryanodine receptor (RYR1) cDNAs from three individuals predisposed to malignant hyperthermia (MH). 1354642

1992

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. 1354642

1992

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 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 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 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 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 To date, six mutations in the skeletal muscle ryanodine receptor gene (RYR1) have been identified in malignant hyperthermia susceptible (MHS) and central core disease (CCD) cases. 7849712

1995

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT With the identification of RYR1 point mutations this might in turn result in non-invasive methods for the presymptomatic diagnosis of MH. 7751854

1995

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Previous studies have reported that inherited mutations in the ryanodine receptor (RYR1) gene co-segregated, in some families, with MH susceptibility; lack of linkage between MH and the RYR1 gene in some other families indicates a heterogenous genetic basis for the syndrome. 7751854

1995

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT This mutation is adjacent to the previously identified Arg2434His mutation reported in a CCD/MH family and indicates that there may be a second region in the RYR1 gene where MHS/CCD mutations cluster. 7849712

1995

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia. 7881417

1995

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 To date, eight mutations in the skeletal muscle ryanodine receptor gene (RYR1) have been identified in malignant hyperthermia susceptible (MHS) and central core disease (CCD) cases. 9389851

1997

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Linkage analysis demonstrated linkage between RYR1-linked markers and MH susceptibility in this family. 9066328

1997

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT We describe here the identification of a novel mutation, Arg552Trp, in the RYR1 gene, which is clearly linked to the MHS phenotype in a large, well characterised Irish pedigree. 9138151

1997

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT To date, mutation screening of the RYR1 gene in MH families has led to the identification of eight mutations. 9138151

1997

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 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 Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. 9497245

1998

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Point mutations in the ryanodine receptor (RYR1) gene are associated with malignant hyperthermia, an autosomal dominant disorder triggered in susceptible people (MHS) by volatile anaesthetics and depolarising skeletal muscle relaxants. 10051009

1999

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT In >50% of the families, MH susceptibility is linked to the gene encoding the skeletal muscle ryanodine receptor (RYR1), the calcium release channel of the sarcoplasmic reticulum, on chromosome 19q12-13.2. 10484775

1999

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation UNIPROT Here we report single strand conformation polymorphism (SSCP) screening for nine of the most frequent RYR1 mutations using genomic DNA isolated from MHS patients. 10051009

1999