episodic ataxia Gene Set

Dataset	HPO Gene-Disease Associations
Category	disease or phenotype associations
Type	phenotype
Description	A neuromuscular disease characterized by sporadic bouts of ataxia with or without continuous muscle movement. (Human Disease Ontology, DOID_963)
External Link	http://compbio.charite.de/hpoweb/showterm?id=HP:0002131
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Genes

7 genes associated with the episodic ataxia 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
CACNB4	calcium channel, voltage-dependent, beta 4 subunit
KCNA1	potassium channel, voltage gated shaker related subfamily A, member 1
OTC	ornithine carbamoyltransferase
PDHA1	pyruvate dehydrogenase (lipoamide) alpha 1
SLC1A3	solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC2A1	solute carrier family 2 (facilitated glucose transporter), member 1