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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking PAX6 and Ocular anterior segment dysgenesis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8624253 (Homo sapiens)
  • 381 RGD objects have been annotated to Ocular anterior segment dysgenesis  (HP:0007700)
  • 36 papers in RGD have been used to annotate PAX6
  • Curation Notes: ClinVar Annotator: match by term: Anterior segment ocular dysgenesis
  • Original References(s): PMID:24281366 PMID:32499604


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