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GENE - TERM ANNOTATION REPORT

RGD ID: 18499123
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: MTMR14
Name: myotubularin related protein 14
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)
MTMR14 ISOMTMR14 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Generalized myoclonic-atonic seizurePMID:25865495 PMID:28492532 PMID:31401500
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