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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking HSD11B1 and cortisone reductase deficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Draper N, etal., Nat Genet. 2003 Aug;34(4):434-9.
  • 5 additional annotations were made from Draper N, etal., Nat Genet. 2003 Aug;34(4):434-9.
  • 3 RGD objects have been annotated to cortisone reductase deficiency  (DOID:0090139)
  • 24 papers in RGD have been used to annotate HSD11B1
  • Curation Notes: DNA:insertion,transversion:intron:86557insA, 83597T>G (human)


    • An association has been curated linking HSD11B1 and cortisone reductase deficiency in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 3 RGD objects have been annotated to cortisone reductase deficiency  (DOID:0090139)
  • 24 papers in RGD have been used to annotate HSD11B1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:25526675


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