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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Cyp11b1 and congenital adrenal hyperplasia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Helmberg A, etal., J Clin Endocrinol Metab 1992 Nov;75(5):1278-81.
  • The annotation has been inferred from sequence orthology with CYP11B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Helmberg A, etal., J Clin Endocrinol Metab 1992 Nov;75(5):1278-81.
  • 20 RGD objects have been annotated to congenital adrenal hyperplasia  (DOID:0050811)
  • 31 papers in RGD have been used to annotate Cyp11b1
  • Curation Notes: DNA:frameshift mutation:cds:p.394fsX469 (human)


    • An association has been curated linking Cyp11b1 and congenital adrenal hyperplasia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Skinner CA, etal., J Clin Endocrinol Metab. 1996 Jun;81(6):2389-93.
  • The annotation has been inferred from sequence orthology with CYP11B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Skinner CA, etal., J Clin Endocrinol Metab. 1996 Jun;81(6):2389-93.
  • 20 RGD objects have been annotated to congenital adrenal hyperplasia  (DOID:0050811)
  • 31 papers in RGD have been used to annotate Cyp11b1
  • Curation Notes: 11-beta-hydroxylase deficiency, OMIM:202010; DNA:mutations:multiple (human)


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