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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Nr2e3 and Leber congenital amaurosis in Mus musculus.        

  • 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 NR2E3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 145 RGD objects have been annotated to Leber congenital amaurosis  (DOID:14791)
  • 5 papers in RGD have been used to annotate Nr2e3
  • Curation Notes: ClinVar Annotator: match by term: Leber congenital amaurosis
  • Original References(s): PMID:10655056 PMID:19898638 PMID:24069298 PMID:25703721 PMID:28300834 PMID:28492532 PMID:34440443


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