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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Phox2b and Hirschsprung Disease Ganglioneuroblastoma 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 PHOX2B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Hirschsprung Disease Ganglioneuroblastoma  (DOID:9001466)
  • 14 papers in RGD have been used to annotate Phox2b
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung disease ganglioneuroblastoma
  • Original References(s): PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 PMID:17637745 PMID:20089899 PMID:23754957 PMID:23873030


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