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Standards Ontologies Notations
episodic ataxia type 2

Summary
Definition
An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A.
Super Class
episodic ataxia
Disease Ontology
DOID:0050990
Mondo Disease Ontology
MeSH
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
773 CACNA1A calcium voltage-gated channel subunit alpha1 A
Displaying 1 entry
Gene ID Gene Symbol Description Source
12286 Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source
25398 Cacna1a calcium voltage-gated channel subunit alpha1 A
Displaying 1 entry
Gene ID Gene Symbol Description Source
32158 cac cacophony
Displaying all 2 entries
Gene ID Gene Symbol Description Source
562059 cacna1aa calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, a
569528 cacna1ab calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, b
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024