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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Hif1a and Maffucci syndrome 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 HIF1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to Maffucci syndrome  (DOID:0060221)
  • 186 papers in RGD have been used to annotate Hif1a
  • Curation Notes: ClinVar Annotator: match by term: Maffucci syndrome
  • Original References(s): PMID:25741868


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