malignant hyperthermia Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
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)
Similar Terms
Downloads & Tools

Genes

3 genes involed in the disease malignant hyperthermia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1
RYR1 ryanodine receptor 1 (skeletal)