myotonia Gene Set

Dataset	HPO Gene-Disease Associations
Category	disease or phenotype associations
Type	phenotype
Description	An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. (Human Phenotype Ontology, HP_0002486)
External Link	http://compbio.charite.de/hpoweb/showterm?id=HP:0002486
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Genes

13 genes associated with the myotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol	Name
CACNA1A	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CAV3	caveolin 3
CLCN1	chloride channel, voltage-sensitive 1
CNBP	CCHC-type zinc finger, nucleic acid binding protein
DMPK	dystrophia myotonica-protein kinase
HINT1	histidine triad nucleotide binding protein 1
HSPG2	heparan sulfate proteoglycan 2
LIFR	leukemia inhibitory factor receptor alpha
PFKM	phosphofructokinase, muscle
PIK3R1	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PTRF	polymerase I and transcript release factor
SCN4A	sodium channel, voltage gated, type IV alpha subunit
UCHL1	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)