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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Pkhd1 and cardiomyopathy 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]
  • 1408 RGD objects have been annotated to cardiomyopathy  (DOID:0050700)
  • 19 papers in RGD have been used to annotate Pkhd1
  • Curation Notes: ClinVar Annotator: match by term: Cardiomyopathy
  • Original References(s): PMID:24710345 PMID:25124979 PMID:25741868 PMID:27491411 PMID:28492532 PMID:28851938 PMID:29643536 PMID:33123899 PMID:33569422 PMID:34536170


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