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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking MTHFD1 and abdominal aortic aneurysm in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Giusti B, etal., J Med Genet. 2008 Nov;45(11):721-30. doi: 10.1136/jmg.2008.057851. Epub 2008 Jul 17.
  • 34 additional annotations were made from Giusti B, etal., J Med Genet. 2008 Nov;45(11):721-30. doi: 10.1136/jmg.2008.057851. Epub 2008 Jul 17.
  • 70 RGD objects have been annotated to abdominal aortic aneurysm  (DOID:7693)
  • 24 papers in RGD have been used to annotate MTHFD1
  • Qualifier: susceptibility
  • Curation Notes: DNA:SNPs,haplotypes:intron: (rs8003379) (human)


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