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GENE - TERM ANNOTATION REPORT

RGD ID: 14191934
Species: Sus scrofa
RGD Object: Gene
Symbol: MT-ATP6
Name: mitochondrially encoded ATP synthase membrane subunit 6
Acc ID: DOID:0111750
Term: adult-onset ataxia and polyneuropathy
Definition: A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16049925 "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)
MT-ATP6 ISOMT-ATP6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ataxia and polyneuropathy, adult-onsetPMID:11916326 PMID:16049925 PMID:18055910 PMID:25741868 PMID:32906214 PMID:3612192 PMID:8190310 PMID:8395787 PMID:8602753 PMID:8644724 PMID:8750605 PMID:9568930 PMID:9762610
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