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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking ABCB11 and progressive familial intrahepatic cholestasis 2 in Pan paniscus.        

  • 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)
  • 0 papers in RGD have been used to annotate ABCB11


    • An association has been curated linking ABCB11 and progressive familial intrahepatic cholestasis 2 in Pan paniscus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with ABCB11 (Homo sapiens)
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 0 papers in RGD have been used to annotate ABCB11
  • Qualifier: disease_progression
  • Curation Notes: DNA:mutation:cds:p.D482G(human)
  • Original References(s): PMID:20447715 REF_RGD_ID:14402418


    • An association has been curated linking ABCB11 and progressive familial intrahepatic cholestasis 2 in Pan paniscus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with ABCB11 (Homo sapiens)
  • 2 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 0 papers in RGD have been used to annotate ABCB11
  • Qualifier: disease_progression
  • Curation Notes: DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human
  • Original References(s): PMID:23758865 REF_RGD_ID:14688048


    • An association has been curated linking ABCB11 and progressive familial intrahepatic cholestasis 2 in Pan paniscus.        

  • 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)
  • 0 papers in RGD have been used to annotate ABCB11
  • Curation Notes: ClinVar Annotator: match by term: ABCB11-related condition | ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2
  • Original References(s): PMID:10579978 PMID:11815775 PMID:12370274 PMID:12717091 PMID:14672610 PMID:14999697 PMID:15077010 PMID:15300568 PMID:15317749 PMID:15791618 PMID:16039748 PMID:16199547 PMID:16290310 PMID:16641580 PMID:16763017 PMID:16871584 PMID:17576681 PMID:17855769 PMID:17947449 PMID:18395098 PMID:18692205 PMID:18798335 PMID:18937870 PMID:19101985 PMID:19571440 PMID:19750581 PMID:19797282 PMID:19845854 PMID:20010382 PMID:20232290 PMID:20414253 PMID:20583290 PMID:20683201 PMID:20799350 PMID:21404481 PMID:21490445 PMID:22364601 PMID:22609309 PMID:22795478 PMID:23022423 PMID:23279303 PMID:23684896 PMID:23750872 PMID:24033266 PMID:24115678 PMID:24214725 PMID:24231640 PMID:24339557 PMID:24402531 PMID:24530123 PMID:24627769 PMID:24969679 PMID:24991443 PMID:25716872 PMID:25741868 PMID:25741905 PMID:25741914 PMID:25741915 PMID:25741916 PMID:25771912 PMID:25847299 PMID:26019043 PMID:26126923 PMID:26382629 PMID:26678486 PMID:26858187 PMID:27050426 PMID:27114171 PMID:27153395 PMID:27239116 PMID:27368585 PMID:27426735 PMID:28027573 PMID:28119944 PMID:28454995 PMID:28492532 PMID:28733223 PMID:28776642 PMID:29104077 PMID:29412511 PMID:30210030 PMID:31015375 PMID:31319225 PMID:31538484 PMID:31745229 PMID:32087350 PMID:32309332 PMID:32508937 PMID:32581362 PMID:32808743 PMID:32860008 PMID:32942997 PMID:33915153 PMID:34008892 PMID:34016879 PMID:35780807 PMID:9536098 PMID:9806540


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