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GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking Ednrb and Hirschsprung's disease in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Gariepy CE, etal., J Clin Invest 1998 Sep 15;102(6):1092-101.
  • The annotation has been inferred from sequence orthology with Ednrb (Rattus norvegicus) [(IMP) inferred from mutant phenotype]
  • 8 additional annotations were made from Gariepy CE, etal., J Clin Invest 1998 Sep 15;102(6):1092-101.
  • 188 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 39 papers in RGD have been used to annotate Ednrb
  • Qualifier: treatment


    • An association has been curated linking Ednrb and Hirschsprung's disease in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Puffenberger EG, etal., Cell. 1994 Dec 30;79(7):1257-66.
  • The annotation has been inferred from sequence orthology with EDNRB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Puffenberger EG, etal., Cell. 1994 Dec 30;79(7):1257-66.
  • 188 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 39 papers in RGD have been used to annotate Ednrb
  • Curation Notes: DNA:point mutation:exon:W276C


    • An association has been curated linking Ednrb and Hirschsprung's disease in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Ceccherini I, etal., Hum Mol Genet 1995 Nov;4(11):2089-96.
  • The annotation has been inferred from sequence orthology with Ednrb (Rattus norvegicus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Ceccherini I, etal., Hum Mol Genet 1995 Nov;4(11):2089-96.
  • 188 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 39 papers in RGD have been used to annotate Ednrb


    • An association has been curated linking Ednrb and Hirschsprung's disease in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with EDNRB (Homo sapiens) [(EXP) inferred from experiment]
  • 188 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 39 papers in RGD have been used to annotate Ednrb
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:8896568


    • An association has been curated linking Ednrb and Hirschsprung's disease in Mus musculus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • 188 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 39 papers in RGD have been used to annotate Ednrb
  • Curation Notes: OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712


    • An association has been curated linking Ednrb and Hirschsprung's disease in Mus musculus.        

  • 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.
  • 188 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 39 papers in RGD have been used to annotate Ednrb


    • An association has been curated linking Ednrb and Hirschsprung's disease in Mus musculus.        

  • 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.
  • 188 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 39 papers in RGD have been used to annotate Ednrb


    • An association has been curated linking Ednrb and Hirschsprung's disease in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with EDNRB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 188 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 39 papers in RGD have been used to annotate Ednrb


    • An association has been curated linking Ednrb and Hirschsprung's disease in Mus musculus.        

  • 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]
  • 188 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 39 papers in RGD have been used to annotate Ednrb
  • Curation Notes: ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Recessive | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2
  • Original References(s): PMID:10090908 PMID:10458491 PMID:10664228 PMID:10874640 PMID:12628594 PMID:14633923 PMID:16145050 PMID:16518596 PMID:16944573 PMID:16954478 PMID:17011274 PMID:17223014 PMID:17554617 PMID:17618893 PMID:18162831 PMID:18633623 PMID:18758497 PMID:19320733 PMID:20009762 PMID:20127975 PMID:21507037 PMID:22993632 PMID:22995991 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:27639823 PMID:28492532 PMID:29106856 PMID:29407415 PMID:30218169 PMID:30303587 PMID:30936914 PMID:31240788 PMID:32747562 PMID:33095980 PMID:35790984 PMID:8001158 PMID:8852658 PMID:8852659 PMID:8852660 PMID:9359036 PMID:9760196


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