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GENE - TERM ANNOTATION REPORT

RGD ID: 18629896
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: TOP3A
Name: DNA topoisomerase III alpha
Acc ID: DOID:0111524
Term: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5
Definition: A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/29290614 "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)
TOP3A ISOTOP3A (Homo sapiens)7240710OMIM  
TOP3A ISOTOP3A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5PMID:24509834 PMID:25741868 PMID:28492532 PMID:29290614 PMID:36544354 PMID:37013609
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