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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Nod2 and familial Mediterranean fever in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Berkun Y, etal., Semin Arthritis Rheum. 2012 Aug;42(1):84-8. doi: 10.1016/j.semarthrit.2011.12.002. Epub 2012 Jan 12.
  • The annotation has been inferred from sequence orthology with NOD2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Berkun Y, etal., Semin Arthritis Rheum. 2012 Aug;42(1):84-8. doi: 10.1016/j.semarthrit.2011.12.002. Epub 2012 Jan 12.
  • 15 RGD objects have been annotated to familial Mediterranean fever  (DOID:2987)
  • 67 papers in RGD have been used to annotate Nod2
  • Qualifier: severity
  • Curation Notes: DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)

  • This annotation was curated on 2018-05-12 09:01:22.0 by RGD . For more information contact us

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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.