malignant hyperthermia Gene Set

Dataset HPO Gene-Disease 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)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002047
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Genes

17 genes associated with the malignant hyperthermia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLCF1 cardiotrophin-like cytokine factor 1
CRLF1 cytokine receptor-like factor 1
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
GCDH glutaryl-CoA dehydrogenase
HSPG2 heparan sulfate proteoglycan 2
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
RAPSN receptor-associated protein of the synapse
RYR1 ryanodine receptor 1 (skeletal)
SCN4A sodium channel, voltage gated, type IV alpha subunit
STAC3 SH3 and cysteine rich domain 3
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase