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GENE - TERM ANNOTATION REPORT

RGD ID: 14158893
Species: Sus scrofa
RGD Object: Gene
Symbol: HNRNPU
Name: heterogeneous nuclear ribonucleoprotein U
Acc ID: DOID:9001793
Term: Generalized Epilepsy
Definition: Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)
Definition Source(s): MESH:D004829
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: Epileptic encephalopathyPMID:22678713 PMID:25326635 PMID:25741868 PMID:28283832 PMID:28492532 PMID:28815871
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