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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Nr1h4 and progressive familial intrahepatic cholestasis 1 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 NR1H4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to progressive familial intrahepatic cholestasis 1  (DOID:0070226)
  • 70 papers in RGD have been used to annotate Nr1h4
  • Curation Notes: ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic 1
  • Original References(s): PMID:26888176


  • An association has been curated linking Nr1h4 and progressive familial intrahepatic cholestasis 1 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 NR1H4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to progressive familial intrahepatic cholestasis 1  (DOID:0070226)
  • 70 papers in RGD have been used to annotate Nr1h4
  • Curation Notes: ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic 1
  • Original References(s): PMID:21633855 PMID:26888176


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