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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking HFE and polycythemia vera in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Andrikovics H, etal., Cancer Epidemiol Biomarkers Prev. 2009 Mar;18(3):929-34. doi: 10.1158/1055-9965.EPI-08-0359. Epub 2009 Mar 3.
  • 15 additional annotations were made from Andrikovics H, etal., Cancer Epidemiol Biomarkers Prev. 2009 Mar;18(3):929-34. doi: 10.1158/1055-9965.EPI-08-0359. Epub 2009 Mar 3.
  • 17 RGD objects have been annotated to polycythemia vera  (DOID:8997)
  • 63 papers in RGD have been used to annotate HFE
  • Qualifier: susceptibility
  • Curation Notes: DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562) (human)


    • An association has been curated linking HFE and polycythemia vera in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Andrikovics H, etal., Cancer Epidemiol Biomarkers Prev. 2009 Mar;18(3):929-34. doi: 10.1158/1055-9965.EPI-08-0359. Epub 2009 Mar 3.
  • 15 additional annotations were made from Andrikovics H, etal., Cancer Epidemiol Biomarkers Prev. 2009 Mar;18(3):929-34. doi: 10.1158/1055-9965.EPI-08-0359. Epub 2009 Mar 3.
  • 17 RGD objects have been annotated to polycythemia vera  (DOID:8997)
  • 63 papers in RGD have been used to annotate HFE
  • Qualifier: no_association
  • Curation Notes: DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945) (human)


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