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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking SOX10 and Hirschsprung Disease 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:9681754 (Homo sapiens)
  • 12 RGD objects have been annotated to Hirschsprung Disease 1  (DOID:9004286)
  • 12 papers in RGD have been used to annotate SOX10
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung disease 1
  • Original References(s): PMID:24357527 PMID:25741868


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