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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking TK2 and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 in Pan paniscus.        

  • 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 TK2 (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 3  (DOID:0111523)
  • 0 papers in RGD have been used to annotate TK2


    • An association has been curated linking TK2 and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 in Pan paniscus.        

  • 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 TK2 (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 3  (DOID:0111523)
  • 0 papers in RGD have been used to annotate TK2
  • Curation Notes: ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
  • Original References(s): PMID:12391347 PMID:12655576 PMID:12682338 PMID:12873860 PMID:15639197 PMID:15907288 PMID:16504786 PMID:16908738 PMID:1734306 PMID:18819985 PMID:19265691 PMID:21937588 PMID:22345218 PMID:23303857 PMID:23932787 PMID:24033266 PMID:24484525 PMID:25326635 PMID:25446393 PMID:25741868 PMID:26224072 PMID:26467025 PMID:26925861 PMID:27839525 PMID:28492532 PMID:28812460 PMID:29602790 PMID:38177409


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