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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking SERPINE1 and amyloidosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Bonyadi M, etal., Eur J Pediatr. 2013 Jan;172(1):91-8. doi: 10.1007/s00431-012-1844-z. Epub 2012 Oct 5.
  • 8 additional annotations were made from Bonyadi M, etal., Eur J Pediatr. 2013 Jan;172(1):91-8. doi: 10.1007/s00431-012-1844-z. Epub 2012 Oct 5.
  • 66 RGD objects have been annotated to amyloidosis  (DOID:9120)
  • 185 papers in RGD have been used to annotate SERPINE1
  • Qualifier: susceptibility
  • Curation Notes: associated with Familial Mediterranean Fever;DNA: DNA:polymorphism:promoter:rs1799768 (human):


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