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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking ERCC2 and acute myeloid leukemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Strom SS, etal., Leuk Lymphoma. 2010 Apr;51(4):598-605. doi: 10.3109/10428190903582804.
  • 7 additional annotations were made from Strom SS, etal., Leuk Lymphoma. 2010 Apr;51(4):598-605. doi: 10.3109/10428190903582804.
  • 419 RGD objects have been annotated to acute myeloid leukemia  (DOID:9119)
  • 75 papers in RGD have been used to annotate ERCC2
  • Qualifier: disease_progression
  • Curation Notes: DNA:polymorphism: :p.K751Q (rs13181) (human)


    • An association has been curated linking ERCC2 and acute myeloid leukemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Sorour A, etal., Genet Test Mol Biomarkers. 2013 Mar;17(3):195-201. doi: 10.1089/gtmb.2012.0278. Epub 2013 Feb 11.
  • 6 additional annotations were made from Sorour A, etal., Genet Test Mol Biomarkers. 2013 Mar;17(3):195-201. doi: 10.1089/gtmb.2012.0278. Epub 2013 Feb 11.
  • 419 RGD objects have been annotated to acute myeloid leukemia  (DOID:9119)
  • 75 papers in RGD have been used to annotate ERCC2
  • Qualifier: no_association
  • Curation Notes: DNA:polymorphism: :p.K751Q (rs13181) (human)


    • An association has been curated linking ERCC2 and acute myeloid leukemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Hernandez-Boluda JC, etal., Blood. 2012 May 31;119(22):5221-8. doi: 10.1182/blood-2012-02-411215. Epub 2012 Apr 11.
  • 2 additional annotations were made from Hernandez-Boluda JC, etal., Blood. 2012 May 31;119(22):5221-8. doi: 10.1182/blood-2012-02-411215. Epub 2012 Apr 11.
  • 419 RGD objects have been annotated to acute myeloid leukemia  (DOID:9119)
  • 75 papers in RGD have been used to annotate ERCC2
  • Curation Notes: associated with Myeloproliferative Disorders;DNA:polymorphism: :p.K751Q (rs13181) (human)


    • An association has been curated linking ERCC2 and acute myeloid leukemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Kuptsova-Clarkson N, etal., Int J Mol Epidemiol Genet. 2010;1(4):278-94. Epub 2010 Aug 10.
  • 3 additional annotations were made from Kuptsova-Clarkson N, etal., Int J Mol Epidemiol Genet. 2010;1(4):278-94. Epub 2010 Aug 10.
  • 419 RGD objects have been annotated to acute myeloid leukemia  (DOID:9119)
  • 75 papers in RGD have been used to annotate ERCC2
  • Qualifier: disease_progression
  • Curation Notes: DNA:SNPs, haplotypes: :p.D312N, p.K751Q (human)


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