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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Sox10 and Hirschsprung's disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Herbarth B, etal., Proc Natl Acad Sci U S A. 1998 Apr 28;95(9):5161-5.
  • The annotation has been inferred from sequence orthology with Sox10 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Herbarth B, etal., Proc Natl Acad Sci U S A. 1998 Apr 28;95(9):5161-5.
  • 183 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 31 papers in RGD have been used to annotate Sox10
  • Curation Notes: DNA:frameshift:cds:


    • An association has been curated linking Sox10 and Hirschsprung's disease 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 SOX10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 183 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 31 papers in RGD have been used to annotate Sox10
  • Curation Notes: ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
  • Original References(s): PMID:24357527 PMID:25741868


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