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GENE - TERM ANNOTATION REPORT

90 Annotations Found.

An association has been curated linking EDNRB and Hirschsprung's disease in Homo sapiens.        

  • 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.
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Qualifier: treatment


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28910751 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
  • Original References(s): PMID:28492532


    • An association has been curated linking EDNRB and Hirschsprung's disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Puffenberger EG, etal., Cell. 1994 Dec 30;79(7):1257-66.
  • 2 additional annotations were made from Puffenberger EG, etal., Cell. 1994 Dec 30;79(7):1257-66.
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ABCD syndrome, OMIM:600501;DNA:point mutation:R3X


    • An association has been curated linking EDNRB and Hirschsprung's disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Kusafuka T, etal., Hum Mol Genet. 1996 Mar;5(3):347-9.
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB


    • An association has been curated linking EDNRB and Hirschsprung's disease in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 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 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:11602671 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11621310 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11652208 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11603430 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11612503 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
  • Original References(s): PMID:28492532


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11619353 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:26903884 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung disease
  • Original References(s): PMID:25741868


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11619699 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11614631 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11618581 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11653106 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11600396 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11648483 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11621537 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11599648 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:8600283 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
  • Original References(s): PMID:20009762


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:26903888 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung disease
  • Original References(s): PMID:25741868


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11616282 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11600147 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11605092 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11615874 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:8565734 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
  • Original References(s): PMID:8852658


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11644767 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11648129 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11090452 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
  • Original References(s): PMID:10458491 PMID:10664228 PMID:14633923 PMID:17011274 PMID:18162831 PMID:24033266 PMID:25741868 PMID:8852660


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11651075 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11620813 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11614464 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:8600278 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
  • Original References(s): PMID:8852658


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11620334 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11622616 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11659358 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11615727 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11617528 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11615280 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11093006 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
  • Original References(s): PMID:24033266 PMID:25741868 PMID:28492532


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11653886 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive
  • Original References(s): PMID:24033266


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11094402 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive
  • Original References(s): PMID:24033266 PMID:25741868 PMID:28492532


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:8600276 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
  • Original References(s): PMID:25741868 PMID:8001158


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11550212 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive
  • Original References(s): PMID:24033266 PMID:25741868 PMID:28492532


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11545676 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive
  • Original References(s): PMID:24033266 PMID:25741868 PMID:28492532


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:15174247 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung disease


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:8600279 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
  • Original References(s): PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:8001158 PMID:9359036 PMID:9760196


    • An association has been curated linking EDNRB and Hirschsprung's disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Qualifier: susceptibility


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28873353 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28873350 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28873357 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28867898 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28910864 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28867901 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28873774 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28910859 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28910861 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28873567 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28873564 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28868006 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28910862 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28910863 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11091511 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive
  • Original References(s): PMID:24033266 PMID:26467025


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28873787 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28910748 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28910858 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28910860 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28912103 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28912104 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28910744 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28910746 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28912102 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28912101 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28910749 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
  • Original References(s): PMID:16145050 PMID:17223014 PMID:27639823


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28873782 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28873347 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28910611 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28873778 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11613346 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2
  • Original References(s): PMID:28492532


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28868003 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2
  • Original References(s): PMID:28492532


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:13540471 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2
  • Original References(s): PMID:21507037 PMID:24033266 PMID:28492532


    • An association has been curated linking EDNRB and Hirschsprung's disease 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.
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB


    • An association has been curated linking EDNRB and Hirschsprung's disease 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.
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:8600280 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
  • Original References(s): PMID:10090908 PMID:10874640 PMID:16145050 PMID:16954478 PMID:19320733 PMID:20009762 PMID:21507037 PMID:22993632 PMID:22995991 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 PMID:29407415 PMID:8852659


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11088575 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
  • Original References(s): PMID:12628594 PMID:16145050 PMID:16518596 PMID:17618893 PMID:18633623 PMID:18758497 PMID:20009762 PMID:21507037 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30218169


    • An association has been curated linking EDNRB and Hirschsprung's disease 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)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
  • Original References(s): PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:32747562


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:11094076 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive
  • Original References(s): PMID:24033266 PMID:25741868 PMID:28492532


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28868008 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2
  • Original References(s): PMID:21507037 PMID:28492532


    • An association has been curated linking EDNRB and Hirschsprung's disease 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:28873771 (Homo sapiens)
  • 209 RGD objects have been annotated to Hirschsprung's disease  (DOID:10487)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2
  • Original References(s): PMID:28492532


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