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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Sox9 and Campomelic Dysplasia with Autosomal Sex Reversal 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 SOX9 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Campomelic Dysplasia with Autosomal Sex Reversal  (DOID:9003184)
  • 18 papers in RGD have been used to annotate Sox9
  • Curation Notes: ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal
  • Original References(s): PMID:11076045 PMID:11323423 PMID:12810722 PMID:15806394 PMID:1809232 PMID:20301724 PMID:21412441 PMID:25741868 PMID:26078652 PMID:26633542 PMID:28492532 PMID:31389106 PMID:34092239 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 PMID:9002675


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