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GENE - TERM ANNOTATION REPORT

RGD ID: 11094
Species: Mus musculus
RGD Object: Gene
Symbol: Abcb4
Name: ATP-binding cassette, sub-family B member 4
Acc ID: DOID:0070223
Term: progressive familial intrahepatic cholestasis 3
Definition: A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9419367 "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)
Abcb4 ISOABCB4 (Homo sapiens)7240710OMIM  
Abcb4 ISOABCB4 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:22184139 PMID:28552422
Abcb4 ISOABCB4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ABCB4-Related Intrahepatic Cholestasis | ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis | ClinVar Annotator: match by term: MDR3 deficiencyPMID:11313316 PMID:12624161 PMID:12891548 PMID:14999697 PMID:15077010 PMID:16696816 PMID:16763017 PMID:16890614 PMID:17241866 PMID:17576681 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 PMID:19261551 PMID:19467940 PMID:19490418 PMID:19584064 PMID:19840255 PMID:20042859 PMID:20422496 PMID:20537830 PMID:20849526 PMID:21119540 PMID:21514256 PMID:22331132 PMID:22675952 PMID:23022423 PMID:23217326 PMID:23533021 PMID:23820649 PMID:24033266 PMID:24381502 PMID:24594635 PMID:24723470 PMID:24806754 PMID:24914347 PMID:25133187 PMID:25593501 PMID:25741868 PMID:25741915 PMID:25741916 PMID:25755532 PMID:25807286 PMID:26126923 PMID:26153658 PMID:26324191 PMID:26474921 PMID:26699824 PMID:26823041 PMID:26900700 PMID:27256251 PMID:28012258 PMID:28039895 PMID:28355206 PMID:28492532 PMID:28587926 PMID:28733223 PMID:28776642 PMID:28924228 PMID:29238877 PMID:29761167 PMID:30036524 PMID:31000363 PMID:31130284 PMID:31319225 PMID:31538484 PMID:31625567 PMID:31728073 PMID:32321542 PMID:32581362 PMID:32626542 PMID:32893960 PMID:32917322 PMID:33201677 PMID:33215027 PMID:33258288 PMID:33390354 PMID:33742171 PMID:33757843 PMID:33763395 PMID:33915153 PMID:34016879 PMID:34376370 PMID:34678161 PMID:34942279 PMID:35288833 PMID:35626323 PMID:35741809 PMID:35894240 PMID:35905201 PMID:35922258 PMID:36277956 PMID:8666348 PMID:9419367 PMID:9536098 PMID:9923886
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