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Standards Ontologies Notations
idiopathic generalized epilepsy 11

Summary
Synonym
  • EIG11
Definition
An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CLCN2 on chromosome 3q27.1.
Super Class
idiopathic generalized epilepsy
External Links
Disease Ontology
DOID:0111312
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1181 CLCN2 chloride voltage-gated channel 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
12724 Clcn2 chloride channel, voltage-sensitive 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
174821 clh-1 CBS domain-containing protein
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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: August 19, 2024