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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:0070472
Term: early-onset epilepsy 3
Definition: An epilepsy characterized by infantile or childhood onset of various types of seizures with variable global developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in the ATP6V0C gene on chromosome 16p13.3. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/36074901/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/37161035/ "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)7240710OMIM  
ATP6V0C ISOATP6V0C (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY | ClinVar Annotator: match by term: Epilepsy, early-onset, 3, with or without developmental delayPMID:25741868 PMID:33190975 PMID:35600075 PMID:36074901 PMID:37161035
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