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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Ucn and mitochondrial DNA depletion syndrome 6 in Mus musculus.        

  • 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 UCN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to mitochondrial DNA depletion syndrome 6  (DOID:0080125)
  • 18 papers in RGD have been used to annotate Ucn
  • Curation Notes: ClinVar Annotator: match by term: MPV17-related mitochondrial DNA maintenance defect | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • Original References(s): PMID:23714749 PMID:25741868 PMID:28492532 PMID:30298599


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