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GENE - TERM ANNOTATION REPORT

RGD ID: 11899409
Species: Pan paniscus
RGD Object: Gene
Symbol: HNRNPU
Name: heterogeneous nuclear ribonucleoprotein U
Acc ID: DOID:1826
Term: epilepsy
Definition: A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. (DO)
Definition Source(s): http://books.google.com/books?id=YXqX04Te9ioC&printsec=frontcover&source=gbs_ge_summary_r&cad=0#v=onepage&q&f=false "DO" "DO", http://www.merriam-webster.com/medlineplus/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)
HNRNPU ISOHNRNPU (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: SeizurePMID:25326635 PMID:25741868 PMID:28815871
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