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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Ppox and acute intermittent porphyria in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Medlock AE, etal., Cell Mol Biol (Noisy-le-grand). 2002 Feb;48(1):71-8.
  • The annotation has been inferred from sequence orthology with Ppox (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Medlock AE, etal., Cell Mol Biol (Noisy-le-grand). 2002 Feb;48(1):71-8.
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 21 papers in RGD have been used to annotate Ppox
  • Curation Notes: DNA:missense mutation:exon:p.R59W (mouse)


    • An association has been curated linking Ppox and acute intermittent porphyria 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 PPOX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to acute intermittent porphyria  (DOID:3890)
  • 21 papers in RGD have been used to annotate Ppox
  • Curation Notes: ClinVar Annotator: match by term: Acute intermittent porphyria
  • Original References(s): PMID:28492532


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