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GENE - TERM ANNOTATION REPORT

RGD ID: 8792970
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Syngap1
Name: synaptic Ras GTPase activating protein 1
Acc ID: DOID:0060681
Term: autosomal dominant nocturnal frontal lobe epilepsy
Definition: A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/7895015 "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)
Syngap1 ISOSYNGAP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal dominant epilepsyPMID:23161826 PMID:25741868 PMID:26989088 PMID:28492532
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