malignant hyperthermia Gene Set
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
|
