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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking H6PD 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)
  • 9 papers in RGD have been used to annotate H6PD
  • Curation Notes: DNA:point mutation:CDS:p.R453Q (human)


    • An association has been curated linking H6pd and cortisone reductase deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Draper N, etal., Nat Genet. 2003 Aug;34(4):434-9.
  • The annotation has been inferred from sequence orthology with H6PD (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 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)
  • 15 papers in RGD have been used to annotate H6pd
  • Curation Notes: DNA:point mutation:CDS:p.R453Q (human)


    • An association has been curated linking H6pd and cortisone reductase deficiency in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Draper N, etal., Nat Genet. 2003 Aug;34(4):434-9.
  • The annotation has been inferred from sequence orthology with H6PD (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 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)
  • 7 papers in RGD have been used to annotate H6pd
  • Curation Notes: DNA:point mutation:CDS:p.R453Q (human)


    • 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 Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Draper N, etal., Nat Genet. 2003 Aug;34(4):434-9.
  • The annotation has been inferred from sequence orthology with HSD11B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 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)
  • 43 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 Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Draper N, etal., Nat Genet. 2003 Aug;34(4):434-9.
  • The annotation has been inferred from sequence orthology with HSD11B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 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)
  • 27 papers in RGD have been used to annotate Hsd11b1
  • Curation Notes: DNA:insertion,transversion:intron:86557insA, 83597T>G (human)


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