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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Pofut2 and Axenfeld-Rieger syndrome type 3 in Chinchilla lanigera.        

  • 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 POFUT2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 19 RGD objects have been annotated to Axenfeld-Rieger syndrome type 3  (DOID:0110122)
  • 1 papers in RGD have been used to annotate Pofut2
  • Curation Notes: ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3
  • Original References(s): PMID:11170889 PMID:21681106


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