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GENE - TERM ANNOTATION REPORT

RGD ID: 730944
Species: Homo sapiens
RGD Object: Gene
Symbol: ABCB11
Name: ATP binding cassette subfamily B member 11
Acc ID: DOID:0070222
Term: progressive familial intrahepatic cholestasis 2
Definition: A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9806540 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
ABCB11disease_progressionIAGP 14402418RGDDNA:mutation:cds:p.D482G(human) 
ABCB11disease_progressionIAGP 14688048RGDDNA:mutation:exon:c.1120G>A(p.Gly374Ser)human 
ABCB11 IAGP 7240710OMIM  
ABCB11 EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:36142670
ABCB11 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ABCB11-related condition | ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:25741868 PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:23279303 PMID:25741868 PMID:28492532
ABCB11 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:20232290 PMID:23022423 PMID:23279303 PMID:23750872 PMID:25741868 PMID:27153395 PMID:28492532 PMID:32581362
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:19101985 PMID:20010382 PMID:20799350 PMID:25741868 PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:22795478 PMID:23684896 PMID:25741868 PMID:27153395 PMID:28492532 PMID:28733223
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:16763017 PMID:18692205 PMID:19571440 PMID:23279303 PMID:24969679 PMID:25741868 PMID:28492532
ABCB11 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2 
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:15317749 PMID:18395098 PMID:19101985 PMID:24530123 PMID:24991443 PMID:25741868 PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:12370274 PMID:14672610 PMID:15791618 PMID:17855769 PMID:18395098 PMID:19101985 PMID:25741868 PMID:25847299 PMID:26019043 PMID:26678486 PMID:28492532 PMID:9806540
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:12370274 PMID:18395098 PMID:18798335 PMID:20232290 PMID:25741868 PMID:25741916 PMID:26678486 PMID:27050426 PMID:28492532 PMID:9806540
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:16871584 PMID:18395098 PMID:20583290 PMID:24231640 PMID:24402531 PMID:25741868 PMID:28492532 PMID:32581362
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:18395098 PMID:21490445 PMID:25741868 PMID:25741916 PMID:27239116 PMID:28492532 PMID:28733223 PMID:34016879
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:12717091 PMID:18395098 PMID:18692205 PMID:19750581 PMID:20683201 PMID:24339557 PMID:25741868 PMID:26858187 PMID:27050426 PMID:27426735 PMID:28492532 PMID:28733223 PMID:29104077 PMID:29412511 PMID:31745229 PMID:32309332 PMID:32581362 PMID:32808743
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:22795478 PMID:25741868 PMID:26126923 PMID:28733223 PMID:33915153
ABCB11 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ABCB11-related condition | ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:25741868
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:15300568 PMID:17855769 PMID:17947449 PMID:18395098 PMID:19101985 PMID:25741868 PMID:26678486 PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:22795478 PMID:24627769 PMID:25741868 PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:22795478 PMID:25741868 PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:12717091 PMID:18395098 PMID:18937870 PMID:27050426 PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ABCB11-related conditionPMID:18395098 PMID:20232290 PMID:25741868 PMID:28492532 PMID:34016879
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:18395098 PMID:25741868 PMID:28492532 PMID:31015375
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:12370274 PMID:18395098 PMID:19101985 PMID:20232290 PMID:25741868 PMID:26678486 PMID:27050426 PMID:28492532 PMID:9806540
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:14999697 PMID:16763017 PMID:19101985 PMID:25741868
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:19101985 PMID:25741868 PMID:28454995 PMID:31538484 PMID:33915153 PMID:35780807
ABCB11 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:18395098 PMID:20232290 PMID:25741868 PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:16871584 PMID:18395098 PMID:24033266 PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:18395098 PMID:20232290 PMID:24214725 PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:16641580 PMID:18395098 PMID:19101985 PMID:22364601 PMID:25741868 PMID:27114171 PMID:28492532 PMID:28733223 PMID:33915153
ABCB11 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:20414253 PMID:25741868
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ABCB11-related conditionPMID:23279303 PMID:25741868 PMID:26382629 PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ABCB11-related conditionPMID:16199547 PMID:18395098 PMID:20232290 PMID:25741868 PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:18395098 PMID:25741868
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:16763017 PMID:19571440 PMID:25741868 PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:12370274 PMID:18395098 PMID:18798335 PMID:19101985 PMID:20232290 PMID:25716872 PMID:25741868 PMID:25741914 PMID:28492532 PMID:9806540
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:20232290 PMID:25741868 PMID:28492532 PMID:32087350 PMID:32860008
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:15077010 PMID:19101985
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:15300568 PMID:16199547 PMID:16871584 PMID:18395098 PMID:20232290 PMID:25741868 PMID:28492532 PMID:28733223 PMID:34008892
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:25741868 PMID:31319225
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:15300568 PMID:18395098 PMID:19101985 PMID:20232290 PMID:25716872 PMID:25741868 PMID:25741916 PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:16199547 PMID:16871584 PMID:18395098 PMID:20232290 PMID:25741868 PMID:25771912 PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:18395098 PMID:24969679 PMID:25741868 PMID:27050426 PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:18395098 PMID:19845854 PMID:20232290 PMID:25741868 PMID:28492532 PMID:28776642 PMID:32309332
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ABCB11-related conditionPMID:19845854 PMID:20232290 PMID:24627769 PMID:25741868 PMID:28119944 PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:18395098 PMID:20232290 PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:18395098 PMID:20232290 PMID:25741868 PMID:28492532 PMID:28733223
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:21490445 PMID:25741868 PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:14999697 PMID:19101985 PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:20232290 PMID:20414253 PMID:21404481 PMID:25741868 PMID:25741916 PMID:27239116 PMID:28492532 PMID:32808743
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:10579978 PMID:25741868
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:19797282
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ABCB11-related conditionPMID:24969679 PMID:25741868 PMID:32309332 PMID:32808743 PMID:32942997
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:16199547 PMID:16871584 PMID:18395098 PMID:20232290 PMID:24991443 PMID:25741868 PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:18395098 PMID:19101985 PMID:25741868
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:12370274 PMID:19101985 PMID:25741868 PMID:32508937 PMID:9806540
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:18395098 PMID:19101985 PMID:25741868 PMID:26678486 PMID:27050426 PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:16871584 PMID:20232290 PMID:25741868 PMID:25741916 PMID:25847299 PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:16199547 PMID:18395098 PMID:20232290 PMID:24991443 PMID:25741868 PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:18395098 PMID:19101985 PMID:22609309 PMID:25716872 PMID:25741868 PMID:28492532 PMID:28733223
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:16290310 PMID:19101985 PMID:25741868 PMID:26382629 PMID:28027573 PMID:28492532 PMID:29412511 PMID:30210030 PMID:32808743
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:11815775 PMID:18692205 PMID:25741916 PMID:28492532 PMID:33915153
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:25741916
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:25741914
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:25741915
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:25741905
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:9806540
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:16039748 PMID:18395098 PMID:20232290 PMID:24115678 PMID:25741868 PMID:26678486 PMID:27368585 PMID:28492532
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:18395098 PMID:20232290 PMID:25741868 PMID:28492532 PMID:9806540
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:10579978 PMID:12370274 PMID:15300568 PMID:16039748 PMID:17855769 PMID:18395098 PMID:19101985 PMID:25741868 PMID:28492532 PMID:28733223 PMID:32581362 PMID:9806540
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:16039748 PMID:17576681 PMID:25741868 PMID:27114171 PMID:28492532 PMID:28733223 PMID:9536098
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:10579978 PMID:18395098 PMID:20232290 PMID:25741868 PMID:27050426 PMID:28492532 PMID:9806540
ABCB11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2PMID:18395098 PMID:28492532 PMID:31015375 PMID:9806540
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