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GENE - TERM ANNOTATION REPORT

29 Annotations Found.

An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Stindt J, etal., Liver Int. 2013 Nov;33(10):1527-35. doi: 10.1111/liv.12217. Epub 2013 Jun 12.
  • The annotation has been inferred from sequence orthology with ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Stindt J, etal., Liver Int. 2013 Nov;33(10):1527-35. doi: 10.1111/liv.12217. Epub 2013 Jun 12.
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Qualifier: disease_progression
  • Curation Notes: DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by OMIM:601847
  • Original References(s): PMID:9806540


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by OMIM:601847
  • Original References(s): PMID:16039748


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by OMIM:601847


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
  • Original References(s): PMID:10579978 PMID:27050426 PMID:28492532 PMID:9806540


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
  • Original References(s): PMID:25741868 PMID:28492532 PMID:32860008


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by term: Benign recurrent intrahepatic cholestasis 2
  • Original References(s): PMID:25741868


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
  • Original References(s): PMID:16039748 PMID:24115678 PMID:26678486 PMID:27368585 PMID:28492532


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
  • Original References(s): PMID:25741868 PMID:31319225


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Pawlikowska L, etal., J Hepatol. 2010 Jul;53(1):170-8. doi: 10.1016/j.jhep.2010.01.034. Epub 2010 Apr 13.
  • The annotation has been inferred from sequence orthology with ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Pawlikowska L, etal., J Hepatol. 2010 Jul;53(1):170-8. doi: 10.1016/j.jhep.2010.01.034. Epub 2010 Apr 13.
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Qualifier: disease_progression
  • Curation Notes: DNA:mutation:cds:p.D482G(human)


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
  • Original References(s): PMID:18395098 PMID:18798335 PMID:9806540


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
  • Original References(s): PMID:12370274 PMID:14672610 PMID:15791618 PMID:17855769 PMID:18395098 PMID:19101985 PMID:25847299 PMID:26019043 PMID:26678486 PMID:28492532 PMID:30311386 PMID:9806540


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
  • Original References(s): PMID:18395098


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
  • Original References(s): PMID:16763017 PMID:19571440 PMID:28492532


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
  • Original References(s): PMID:28492532


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
  • Original References(s): PMID:22795478 PMID:24627769 PMID:28492532


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
  • Original References(s): PMID:15077010 PMID:19101985


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
  • Original References(s): PMID:14999697 PMID:16763017 PMID:19101985


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
  • Original References(s): PMID:19101985 PMID:20010382 PMID:20799350 PMID:25741868 PMID:28492532


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
  • Original References(s): PMID:22795478 PMID:23684896 PMID:25741868 PMID:27153395 PMID:28492532


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
  • Original References(s): PMID:23279303 PMID:28492532


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
  • Original References(s): PMID:16763017 PMID:18692205 PMID:19571440 PMID:23279303 PMID:24969679 PMID:25741868 PMID:28492532


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
  • Original References(s): PMID:14999697 PMID:19101985 PMID:28492532


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
  • Original References(s): PMID:12717091 PMID:18395098 PMID:25741868 PMID:27050426 PMID:28492532 PMID:32581362


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
  • Original References(s): PMID:10579978 PMID:12370274 PMID:15300568 PMID:16039748 PMID:17855769 PMID:18395098 PMID:19101985 PMID:24991443 PMID:28492532 PMID:32581362 PMID:9806540


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
  • Original References(s): PMID:20232290 PMID:23022423 PMID:23279303 PMID:23750872 PMID:25741868 PMID:27153395 PMID:28492532 PMID:32581362


  • An association has been curated linking Abcb11 and progressive familial intrahepatic cholestasis 2 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 ABCB11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 46 papers in RGD have been used to annotate Abcb11
  • Curation Notes: ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
  • Original References(s): PMID:16871584 PMID:18395098 PMID:20583290 PMID:24231640 PMID:24402531 PMID:25741868 PMID:28492532 PMID:32581362


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