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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Pkhd1 and familial mediterranean fever 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 PKHD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 23 RGD objects have been annotated to familial mediterranean fever  (DOID:2987)
  • 19 papers in RGD have been used to annotate Pkhd1
  • Curation Notes: ClinVar Annotator: match by term: Periodic disease
  • Original References(s): PMID:15805161 PMID:16876319 PMID:21228398 PMID:25326637 PMID:25741868 PMID:26673778 PMID:27225849 PMID:28492532 PMID:28862642


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