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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Pitx3 and cataract 9 multiple types in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Semina EV, etal., Nat Genet 1998 Jun;19(2):167-70.
  • The annotation has been inferred from sequence orthology with PITX3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Semina EV, etal., Nat Genet 1998 Jun;19(2):167-70.
  • 2 RGD objects have been annotated to cataract 9 multiple types  (DOID:0110266)
  • 25 papers in RGD have been used to annotate Pitx3
  • Curation Notes: DNA:missense mutation, insertion:cds:p.S13N, G219fsX226 (human)


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.