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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking ABCB4 and primary biliary cholangitis 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
  • 103 RGD objects have been annotated to primary biliary cholangitis  (DOID:12236)
  • 21 papers in RGD have been used to annotate ABCB4
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:20040336 PMID:30682444


    • An association has been curated linking ABCB4 and primary biliary cholangitis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Ohishi Y, etal., Hepatology. 2008 Sep;48(3):853-62. doi: 10.1002/hep.22382.
  • 2 additional annotations were made from Ohishi Y, etal., Hepatology. 2008 Sep;48(3):853-62. doi: 10.1002/hep.22382.
  • 103 RGD objects have been annotated to primary biliary cholangitis  (DOID:12236)
  • 21 papers in RGD have been used to annotate ABCB4
  • Qualifier: disease_progression
  • Curation Notes: DNA:SNPs, haplotype, diplotype: : rs31658, rs31672,rs1149222(human)


    • An association has been curated linking ABCB4 and primary biliary cholangitis in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Latasa MU, etal., PLoS One. 2010 Dec 29;5(12):e15690. doi: 10.1371/journal.pone.0015690.
  • The annotation has been inferred from sequence orthology with Abcb4 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 47 additional annotations were made from Latasa MU, etal., PLoS One. 2010 Dec 29;5(12):e15690. doi: 10.1371/journal.pone.0015690.
  • 103 RGD objects have been annotated to primary biliary cholangitis  (DOID:12236)
  • 21 papers in RGD have been used to annotate ABCB4
  • Qualifier: treatment


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