Episodic ataxia type 2 Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia. (Orphanet Rare Disease Ontology, Orphanet_97)
External Link http://www.omim.org/entry/108500
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1 genes associated with the Episodic ataxia type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit