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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Nr5a1 and Zellweger syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
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  • The annotation was made from Rosewich H, etal., J Med Genet. 2005 Sep;42(9):e58.
  • The annotation has been inferred from sequence orthology with NR5A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Rosewich H, etal., J Med Genet. 2005 Sep;42(9):e58.
  • 90 RGD objects have been annotated to Zellweger syndrome  (DOID:905)
  • 17 papers in RGD have been used to annotate Nr5a1
  • Curation Notes: DNA:deletions, missense mutations, nonsense mutation: exon:multiple


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