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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Pax6 and bilateral optic nerve hypoplasia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with PAX6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to bilateral optic nerve hypoplasia  (DOID:0111531)
  • 74 papers in RGD have been used to annotate Pax6


  • An association has been curated linking Pax6 and bilateral optic nerve hypoplasia 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]
  • 1 RGD objects have been annotated to bilateral optic nerve hypoplasia  (DOID:0111531)
  • 74 papers in RGD have been used to annotate Pax6
  • Curation Notes: ClinVar Annotator: match by term: Optic nerve hypoplasia, bilateral
  • Original References(s): PMID:25741868


  • An association has been curated linking Pax6 and bilateral optic nerve hypoplasia 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]
  • 1 RGD objects have been annotated to bilateral optic nerve hypoplasia  (DOID:0111531)
  • 74 papers in RGD have been used to annotate Pax6
  • Curation Notes: ClinVar Annotator: match by term: Optic nerve hypoplasia, bilateral
  • Original References(s): PMID:12721955 PMID:28488383 PMID:28492532


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