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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Pax6 and coloboma 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 PAX6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 121 RGD objects have been annotated to coloboma  (DOID:12270)
  • 74 papers in RGD have been used to annotate Pax6
  • Curation Notes: ClinVar Annotator: match by term: Coloboma | ClinVar Annotator: match by term: Coloboma, ocular, autosomal dominant
  • Original References(s): PMID:10234503 PMID:11929848 PMID:1251879 PMID:12634864 PMID:12721955 PMID:14561779 PMID:15846561 PMID:1684738 PMID:17406642 PMID:18483559 PMID:1954207 PMID:19876904 PMID:22692063 PMID:25741868 PMID:26130484 PMID:26661695 PMID:28321846 PMID:28492532 PMID:29145603 PMID:29914532 PMID:31700164 PMID:34415986 PMID:6988567


    • An association has been curated linking Pax6 and coloboma in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with PAX6 (Homo sapiens) [(EXP) inferred from experiment]
  • 121 RGD objects have been annotated to coloboma  (DOID:12270)
  • 74 papers in RGD have been used to annotate Pax6
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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