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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Pax6 and Peters anomaly 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]
  • 18 RGD objects have been annotated to Peters anomaly  (DOID:0060673)
  • 74 papers in RGD have been used to annotate Pax6
  • Curation Notes: ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
  • Original References(s): PMID:10234503 PMID:12015275 PMID:12552561 PMID:12634864 PMID:12721955 PMID:12868034 PMID:15086958 PMID:15579687 PMID:16199547 PMID:17417613 PMID:18483559 PMID:18776953 PMID:20577777 PMID:22361317 PMID:22692063 PMID:24281366 PMID:25741868 PMID:26604670 PMID:26661695 PMID:27878435 PMID:28321846 PMID:28488383 PMID:28492532 PMID:29145603 PMID:29914532 PMID:31161946 PMID:31700164 PMID:32360764 PMID:32499604 PMID:34101622 PMID:34415986 PMID:8364574 PMID:9727514 PMID:9792406


    • An association has been curated linking Pax6 and Peters anomaly 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]
  • 18 RGD objects have been annotated to Peters anomaly  (DOID:0060673)
  • 74 papers in RGD have been used to annotate Pax6
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Ramaesh T, etal., Exp Eye Res. 2009 Aug;89(2):263-73. doi: 10.1016/j.exer.2009.03.016. Epub 2009 Apr 2.
  • The annotation has been inferred from sequence orthology with Pax6 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Ramaesh T, etal., Exp Eye Res. 2009 Aug;89(2):263-73. doi: 10.1016/j.exer.2009.03.016. Epub 2009 Apr 2.
  • 18 RGD objects have been annotated to Peters anomaly  (DOID:0060673)
  • 74 papers in RGD have been used to annotate Pax6
  • Curation Notes: DNA:snp:cds:pN64K (mouse)


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

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Pax6 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 18 RGD objects have been annotated to Peters anomaly  (DOID:0060673)
  • 74 papers in RGD have been used to annotate Pax6
  • Curation Notes: OMIM:604229


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