Malignant Hyperthermia Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A genetic disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature. (Human Disease Ontology, DOID_8545)
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4 genes associated with the Malignant Hyperthermia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle)
JSRP1 junctional sarcoplasmic reticulum protein 1
RYR1 ryanodine receptor 1 (skeletal)