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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Hsd3b1 and hypospadias in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Codner E, etal., J Clin Endocrinol Metab. 2004 Feb;89(2):957-64.
  • The annotation has been inferred from sequence orthology with HSD3B2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Codner E, etal., J Clin Endocrinol Metab. 2004 Feb;89(2):957-64.
  • 87 RGD objects have been annotated to hypospadias  (DOID:10892)
  • 74 papers in RGD have been used to annotate Hsd3b1
  • Curation Notes: DNA:point mutation:CDS:heterozygous S213T or S284R, result in decreased enzyme activity


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