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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Uqcrc1 and Aicardi-Goutieres Syndrome 1 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 UQCRC1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 65 RGD objects have been annotated to Aicardi-Goutieres Syndrome 1  (DOID:9001350)
  • 15 papers in RGD have been used to annotate Uqcrc1
  • Curation Notes: ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
  • Original References(s): PMID:16845398 PMID:28492532


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