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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Bbs5 and cone dystrophy 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 BBS5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 219 RGD objects have been annotated to cone dystrophy  (DOID:0050795)
  • 6 papers in RGD have been used to annotate Bbs5
  • Curation Notes: ClinVar Annotator: match by term: Cone dystrophy
  • Original References(s): PMID:15137946 PMID:17576681 PMID:20498079 PMID:25741868 PMID:28041643 PMID:28492532 PMID:31506453 PMID:9536098


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