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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Plch2 and Joubert syndrome 25 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 PLCH2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 67 RGD objects have been annotated to Joubert syndrome 25  (DOID:0110994)
  • 4 papers in RGD have been used to annotate Plch2
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 25
  • Original References(s): PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 PMID:9683594


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