myokymia Gene Set

Dataset	HPO Gene-Disease Associations
Category	disease or phenotype associations
Type	phenotype
Description	Successive and rapid contractions of motor units associated with chronic nerve injury. The discharges arise from the peripheral aspects of regenerating nerves, and clinically impart a nearly continuous undulation of the body surface overlying the muscle. (Human Phenotype Ontology, HP_0002411)
External Link	http://compbio.charite.de/hpoweb/showterm?id=HP:0002411
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Genes

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

Symbol	Name
ADCY5	adenylate cyclase 5
HINT1	histidine triad nucleotide binding protein 1
KCNA1	potassium channel, voltage gated shaker related subfamily A, member 1
KCNQ2	potassium channel, voltage gated KQT-like subfamily Q, member 2
PNKD	paroxysmal nonkinesigenic dyskinesia
PPP2R2B	protein phosphatase 2, regulatory subunit B, beta
PRKCG	protein kinase C, gamma
SPTBN2	spectrin, beta, non-erythrocytic 2
UCHL1	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)