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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking PEX5L and syndromic microphthalmia 3 in Sus scrofa.        

  • 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 PEX5L (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 12 RGD objects have been annotated to syndromic microphthalmia 3  (DOID:0111801)
  • 0 papers in RGD have been used to annotate PEX5L
  • Curation Notes: ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
  • Original References(s): PMID:16543359


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