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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Six6 and optic disc anomalies with retinal and/or macular dystrophy 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 SIX6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to optic disc anomalies with retinal and/or macular dystrophy  (DOID:0080635)
  • 6 papers in RGD have been used to annotate Six6


  • An association has been curated linking Six6 and optic disc anomalies with retinal and/or macular 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 SIX6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to optic disc anomalies with retinal and/or macular dystrophy  (DOID:0080635)
  • 6 papers in RGD have been used to annotate Six6
  • Curation Notes: ClinVar Annotator: match by term: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY | ClinVar Annotator: match by term: SIX6-related condition
  • Original References(s): PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 PMID:29405792


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