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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Pax6 and WAGR syndrome 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 PAX6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to WAGR syndrome  (DOID:14515)
  • 2 papers in RGD have been used to annotate Pax6
  • Curation Notes: ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
  • Original References(s): PMID:10234503 PMID:12634864 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18483559 PMID:18776953 PMID:22692063 PMID:25741868 PMID:26604670 PMID:26661695 PMID:28321846 PMID:28492532 PMID:31161946 PMID:9727514


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