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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking EDNRB and Total Intestinal Aganglionosis in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Dang R, etal., PLoS One. 2011;6(9):e24086. Epub 2011 Sep 7.
  • The annotation has been inferred from sequence orthology with Ednrb (Rattus norvegicus) [(IAGP) inferred by association of genotype and phenotype]
  • 50 additional annotations were made from Dang R, etal., PLoS One. 2011;6(9):e24086. Epub 2011 Sep 7.
  • 2 RGD objects have been annotated to Total Intestinal Aganglionosis  (DOID:9003546)
  • 36 papers in RGD have been used to annotate EDNRB


    • An association has been curated linking EDNRB and Total Intestinal Aganglionosis 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:14393128 (Homo sapiens)
  • 2 RGD objects have been annotated to Total Intestinal Aganglionosis  (DOID:9003546)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Aganglionosis, total intestinal
  • Original References(s): PMID:25741868


    • An association has been curated linking EDNRB and Total Intestinal Aganglionosis in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Dang R, etal., PLoS One. 2011;6(11):e27902. Epub 2011 Nov 22.
  • The annotation has been inferred from sequence orthology with Ednrb (Rattus norvegicus) [(IAGP) inferred by association of genotype and phenotype]
  • 15 additional annotations were made from Dang R, etal., PLoS One. 2011;6(11):e27902. Epub 2011 Nov 22.
  • 2 RGD objects have been annotated to Total Intestinal Aganglionosis  (DOID:9003546)
  • 36 papers in RGD have been used to annotate EDNRB


    • An association has been curated linking EDNRB and Total Intestinal Aganglionosis 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:14393130 (Homo sapiens)
  • 2 RGD objects have been annotated to Total Intestinal Aganglionosis  (DOID:9003546)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Aganglionosis, total intestinal
  • Original References(s): PMID:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 PMID:25741868 PMID:29106856 PMID:30303587 PMID:30936914 PMID:31240788 PMID:32747562 PMID:33095980 PMID:35790984


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