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
0.900 Biomarker CTD_human Comparison of Chlorantraniliprole and Flubendiamide Activity Toward Wild-Type and Malignant Hyperthermia-Susceptible Ryanodine Receptors and Heat Stress Intolerance. 30329129

2019

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900 Biomarker CTD_human Analysis of human cultured myotubes responses mediated by ryanodine receptor 1. 21485675

2011

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900 Biomarker CTD_human Increasing the number of diagnostic mutations in malignant hyperthermia. 19191329

2009

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900 Biomarker CTD_human Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes. 19191333

2009

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900 Biomarker CTD_human Identification of functional type 1 ryanodine receptors in human dendritic cells. 17707769

2007

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900 Biomarker CTD_human Mutations in RYR1 in malignant hyperthermia and central core disease. 16917943

2006

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900 Biomarker CTD_human A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation. 14708096

2004

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900 Biomarker CTD_human Anaesthetic management of coronary artery bypass grafting in a patient with central core disease and susceptibility to malignant hyperthermia on statin therapy. 14570802

2003

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900 Biomarker CTD_human Mutations to Gly2370, Gly2373 or Gly2375 in malignant hyperthermia domain 2 decrease caffeine and cresol sensitivity of the rabbit skeletal-muscle Ca2+-release channel (ryanodine receptor isoform 1). 11695996

2001

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900 Biomarker GENOMICS_ENGLAND Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. 8220423

1993