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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Rpgrip1 and Leber congenital amaurosis 1 in Rattus norvegicus.        

  • 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 RPGRIP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 9 RGD objects have been annotated to Leber congenital amaurosis 1  (DOID:0110078)
  • 8 papers in RGD have been used to annotate Rpgrip1
  • Curation Notes: ClinVar Annotator: match by term: Leber congenital amaurosis 1
  • Original References(s): PMID:11283794 PMID:11528500 PMID:12920076 PMID:16123401 PMID:16199547 PMID:16374347 PMID:17576681 PMID:21224891 PMID:21857984 PMID:22277662 PMID:23105016 PMID:25741868 PMID:27884173 PMID:28041643 PMID:28492532 PMID:30576320 PMID:32865313 PMID:9536098


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