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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking TOP3A and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 in Chlorocebus sabaeus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with TOP3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5  (DOID:0111524)
  • 0 papers in RGD have been used to annotate TOP3A


    • An association has been curated linking TOP3A and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 in Chlorocebus sabaeus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TOP3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5  (DOID:0111524)
  • 0 papers in RGD have been used to annotate TOP3A
  • Curation Notes: ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
  • Original References(s): PMID:24509834 PMID:25741868 PMID:28492532 PMID:29290614 PMID:36544354 PMID:37013609


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