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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking MTHFR and Abnormality of blood and blood-forming tissues in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Kaiser R, etal., J Rheumatol. 2012 Aug;39(8):1603-10. Epub 2012 Jun 15.
  • 6 additional annotations were made from Kaiser R, etal., J Rheumatol. 2012 Aug;39(8):1603-10. Epub 2012 Jun 15.
  • 2638 RGD objects have been annotated to Abnormality of blood and blood-forming tissues  (HP:0001871)
  • 167 papers in RGD have been used to annotate MTHFR
  • Qualifier: susceptibility
  • Curation Notes: associated with Lupus Erythematosus, Systemic;DNA:transition, transversion:cds:g.677C>T, g.1298A>C (rs1801133, rs1801131)


    • An association has been curated linking MTHFR and Abnormality of blood and blood-forming tissues in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Galli M, etal., Br J Haematol. 2000 Mar;108(4):865-70.
  • 3 additional annotations were made from Galli M, etal., Br J Haematol. 2000 Mar;108(4):865-70.
  • 2638 RGD objects have been annotated to Abnormality of blood and blood-forming tissues  (HP:0001871)
  • 167 papers in RGD have been used to annotate MTHFR
  • Qualifier: no_association
  • Curation Notes: DNA:transition:cds:g.677C>T


    • An association has been curated linking MTHFR and Abnormality of blood and blood-forming tissues in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Rocha V, etal., Leukemia. 2009 Mar;23(3):545-56. Epub 2008 Nov 13.
  • 3 additional annotations were made from Rocha V, etal., Leukemia. 2009 Mar;23(3):545-56. Epub 2008 Nov 13.
  • 2638 RGD objects have been annotated to Abnormality of blood and blood-forming tissues  (HP:0001871)
  • 167 papers in RGD have been used to annotate MTHFR
  • Qualifier: treatment
  • Curation Notes: DNA:transition:cds:g.677C>T


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