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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Med4 and mitochondrial DNA depletion syndrome 5 in Rattus norvegicus.        

  • 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 MED4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to mitochondrial DNA depletion syndrome 5  (DOID:0080124)
  • 6 papers in RGD have been used to annotate Med4
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
  • Original References(s): PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532


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