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GENE - TERM ANNOTATION REPORT

RGD ID: 12189335
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: ATP6V0C
Name: ATPase H+ transporting V0 subunit c
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)
ATP6V0C ISOATP6V0C (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Childhood-onset epilepsy syndrome | ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: SeizurePMID:25741868 PMID:28492532 PMID:33190975 PMID:36074901
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