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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Cyp11b2 and Hypoaldosteronism in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Pascoe L, etal., Proc Natl Acad Sci U S A. 1992 Jun 1;89(11):4996-5000.
  • The annotation has been inferred from sequence orthology with CYP11B2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Pascoe L, etal., Proc Natl Acad Sci U S A. 1992 Jun 1;89(11):4996-5000.
  • 3 RGD objects have been annotated to Hypoaldosteronism  (DOID:9005658)
  • 36 papers in RGD have been used to annotate Cyp11b2
  • Curation Notes: CMO II deficiency, OMIM:610600; protein:missense mutations:cds:p.R181W, p.V386A (human)


    • An association has been curated linking Cyp11b2 and Hypoaldosteronism in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with CYP11B2 (Homo sapiens) [(EXP) inferred from experiment]
  • 3 RGD objects have been annotated to Hypoaldosteronism  (DOID:9005658)
  • 36 papers in RGD have been used to annotate Cyp11b2
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:11238478


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