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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Dguok and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 in Chinchilla lanigera.        

  • 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 DGUOK (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 4  (DOID:0111516)
  • 2 papers in RGD have been used to annotate Dguok


    • An association has been curated linking Dguok and autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 in Chinchilla lanigera.        

  • 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 DGUOK (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 4  (DOID:0111516)
  • 2 papers in RGD have been used to annotate Dguok
  • Curation Notes: ClinVar Annotator: match by term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
  • Original References(s): PMID:11983456 PMID:16908739 PMID:17073823 PMID:17452231 PMID:17576681 PMID:18205204 PMID:19125351 PMID:23043144 PMID:24423689 PMID:24642831 PMID:25131622 PMID:25741868 PMID:26874653 PMID:28492532 PMID:28493820 PMID:28902392 PMID:29137425 PMID:29228108 PMID:30283818 PMID:30393377 PMID:30589726 PMID:30956829 PMID:31664448 PMID:9536098


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