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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking PKHD1 and Congenital Hepatic Fibrosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Yang N, etal., Eur J Gastroenterol Hepatol. 2019 Mar;31(3):363-367. doi: 10.1097/MEG.0000000000001295.
  • 2 additional annotations were made from Yang N, etal., Eur J Gastroenterol Hepatol. 2019 Mar;31(3):363-367. doi: 10.1097/MEG.0000000000001295.
  • 3 RGD objects have been annotated to Congenital Hepatic Fibrosis  (DOID:9006697)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: DNA:mutations:cds:c.7994T>C, p.(Leu2665Pro),c.8518C>T, p.(Arg2840Cys)(human)


  • An association has been curated linking Pkhd1 and Congenital Hepatic Fibrosis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Yang N, etal., Eur J Gastroenterol Hepatol. 2019 Mar;31(3):363-367. doi: 10.1097/MEG.0000000000001295.
  • The annotation has been inferred from sequence orthology with PKHD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Yang N, etal., Eur J Gastroenterol Hepatol. 2019 Mar;31(3):363-367. doi: 10.1097/MEG.0000000000001295.
  • 3 RGD objects have been annotated to Congenital Hepatic Fibrosis  (DOID:9006697)
  • 18 papers in RGD have been used to annotate Pkhd1
  • Curation Notes: DNA:mutations:cds:c.7994T>C, p.(Leu2665Pro),c.8518C>T, p.(Arg2840Cys)(human)


  • An association has been curated linking Pkhd1 and Congenital Hepatic Fibrosis in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Yang N, etal., Eur J Gastroenterol Hepatol. 2019 Mar;31(3):363-367. doi: 10.1097/MEG.0000000000001295.
  • The annotation has been inferred from sequence orthology with PKHD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Yang N, etal., Eur J Gastroenterol Hepatol. 2019 Mar;31(3):363-367. doi: 10.1097/MEG.0000000000001295.
  • 3 RGD objects have been annotated to Congenital Hepatic Fibrosis  (DOID:9006697)
  • 15 papers in RGD have been used to annotate Pkhd1
  • Curation Notes: DNA:mutations:cds:c.7994T>C, p.(Leu2665Pro),c.8518C>T, p.(Arg2840Cys)(human)


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