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Standards Ontologies Notations
idiopathic generalized epilepsy 14

Summary
Synonym
  • EIG14
Definition
An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC12A5 on chromosome 20q13.12.
Super Class
idiopathic generalized epilepsy
Disease Ontology
DOID:0111315
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
57468 SLC12A5 solute carrier family 12 member 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
57138 Slc12a5 solute carrier family 12, member 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
171373 Slc12a5 solute carrier family 12 member 5
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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