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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Ednrb and Waardenburg Syndrome Type 4 in Rattus norvegicus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Dang R, etal., PLoS One. 2011;6(9):e24086. Epub 2011 Sep 7.
  • 50 additional annotations were made from Dang R, etal., PLoS One. 2011;6(9):e24086. Epub 2011 Sep 7.
  • 7 RGD objects have been annotated to Waardenburg Syndrome Type 4  (DOID:9005027)
  • 78 papers in RGD have been used to annotate Ednrb


    • An association has been curated linking Ednrb and Waardenburg Syndrome Type 4 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 EDNRB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to Waardenburg Syndrome Type 4  (DOID:9005027)
  • 78 papers in RGD have been used to annotate Ednrb
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung disease with pigmentary anomaly
  • Original References(s): PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:32747562


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