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GENE - TERM ANNOTATION REPORT

RGD ID: 1345830
Species: Homo sapiens
RGD Object: Gene
Symbol: CCDC78
Name: coiled-coil domain containing 78
Acc ID: DOID:1827
Term: idiopathic generalized epilepsy
Definition: An epilepsy syndrome that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Epilepsy "DO" "DO", http://en.wikipedia.org/wiki/Generalized_epilepsy "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)
CCDC78 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Idiopathic generalized epilepsyPMID:28492532
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