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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking CYBB and Decreased activity of NADPH oxidase in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Kaneda M, etal., Blood. 1999 Mar 15;93(6):2098-104.
  • 4 additional annotations were made from Kaneda M, etal., Blood. 1999 Mar 15;93(6):2098-104.
  • 5 RGD objects have been annotated to Decreased activity of NADPH oxidase  (HP:0003206)
  • 28 papers in RGD have been used to annotate CYBB
  • Curation Notes: DNA:missense mutations:exons:1558T>C,937G>A,1271T>C,313C>T(human)


    • An association has been curated linking CYBB and Decreased activity of NADPH oxidase in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 5 RGD objects have been annotated to Decreased activity of NADPH oxidase  (HP:0003206)
  • 28 papers in RGD have been used to annotate CYBB
  • Original References(s): OMIM:306400


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