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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking MTHFR and factor VIII deficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Tuten H, etal., Clin Appl Thromb Hemost. 2013 Jul-Aug;19(4):445-8. doi: 10.1177/1076029612438610. Epub 2012 Mar 12.
  • 5 additional annotations were made from Tuten H, etal., Clin Appl Thromb Hemost. 2013 Jul-Aug;19(4):445-8. doi: 10.1177/1076029612438610. Epub 2012 Mar 12.
  • 41 RGD objects have been annotated to factor VIII deficiency  (DOID:12134)
  • 167 papers in RGD have been used to annotate MTHFR
  • Qualifier: severity
  • Curation Notes: DNA:SNP: :677C>T (human)


  • An association has been curated linking MTHFR and factor VIII deficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Tuten H, etal., Clin Appl Thromb Hemost. 2013 Jul-Aug;19(4):445-8. doi: 10.1177/1076029612438610. Epub 2012 Mar 12.
  • 5 additional annotations were made from Tuten H, etal., Clin Appl Thromb Hemost. 2013 Jul-Aug;19(4):445-8. doi: 10.1177/1076029612438610. Epub 2012 Mar 12.
  • 41 RGD objects have been annotated to factor VIII deficiency  (DOID:12134)
  • 167 papers in RGD have been used to annotate MTHFR
  • Qualifier: no_association
  • Curation Notes: DNA:SNP: :1298A>C (human)


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