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GENE - TERM ANNOTATION REPORT

RGD ID: 1562419
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Prrt3
Name: proline-rich transmembrane protein 3
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", https://www.ncbi.nlm.nih.gov/pubmed/23708187 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/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)
Prrt3 ISOPRRT3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myoclonic-atonic epilepsyPMID:25865495 PMID:28492532 PMID:31401500
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