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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Cyp1b1 and Pseudovaginal Perineoscrotal Hypospadias in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with CYP1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Pseudovaginal Perineoscrotal Hypospadias  (DOID:9001561)
  • 59 papers in RGD have been used to annotate Cyp1b1
  • Curation Notes: ClinVar Annotator: match by term: Male pseudohermaphroditism due to 5-alpha-reductase deficiency
  • Original References(s): PMID:11403040 PMID:12036985 PMID:19234632 PMID:19643970 PMID:22004014 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24281366 PMID:25741868 PMID:27820421 PMID:28492532 PMID:32499604 PMID:9097971 PMID:9497261


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