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GENE - TERM ANNOTATION REPORT

RGD ID: 1351292
Species: Homo sapiens
RGD Object: Gene
Symbol: SLC13A5
Name: solute carrier family 13 member 5
Acc ID: DOID:0060475
Term: myoclonic-atonic epilepsy
Definition: An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/books/NBK589173/ "DO" "DO", PMID:23708187 "DO" "DO", PMID:24207121 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
SLC13A5 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathyPMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:27261973 PMID:27600704 PMID:27913086 PMID:28492532 PMID:28673551 PMID:30525188 PMID:32551328 PMID:33040525 PMID:33063863
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