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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking TWNK and autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 in Canis lupus familiaris.        

  • 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 TWNK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3  (DOID:0111520)
  • 0 papers in RGD have been used to annotate TWNK


    • An association has been curated linking TWNK and autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 in Canis lupus familiaris.        

  • 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 TWNK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3  (DOID:0111520)
  • 0 papers in RGD have been used to annotate TWNK
  • Curation Notes: ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
  • Original References(s): PMID:10522883 PMID:11431692 PMID:12163192 PMID:12707443 PMID:12872260 PMID:15668446 PMID:1634620 PMID:17614277 PMID:18575922 PMID:18973250 PMID:19084593 PMID:19353676 PMID:19428252 PMID:19513767 PMID:20301746 PMID:20479361 PMID:20659899 PMID:21689831 PMID:24014582 PMID:24018892 PMID:24076137 PMID:24086434 PMID:25133958 PMID:25355836 PMID:25741868 PMID:25741909 PMID:25989649 PMID:26206283 PMID:26467025 PMID:26970254 PMID:27551684 PMID:28178980 PMID:28454995 PMID:28492532 PMID:28812649 PMID:29458409 PMID:30496414 PMID:30770810 PMID:30799093 PMID:31271879 PMID:31852434 PMID:32619254 PMID:33095980 PMID:34409151 PMID:35011763 PMID:35286480


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