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GENE - TERM ANNOTATION REPORT

RGD ID: 2366
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Abcc2
Name: ATP binding cassette subfamily C member 2
Acc ID: DOID:12308
Term: Dubin-Johnson syndrome
Definition: A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Dubin-Johnson_syndrome "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)
Abcc2 IMP 69812RGD  
Abcc2 ISOABCC2 (Homo sapiens)150429696RGDDNA:missense mutation, deletions:cds:multiple (human) 
Abcc2susceptibilityISOABCC2 (Homo sapiens)1598616RGD  
Abcc2 ISOABCC2 (Homo sapiens)7240710OMIM  
Abcc2 ISOABCC2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:16952291
Abcc2 ISOABCC2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ABCC2-related condition | ClinVar Annotator: match by term: Dubin-Johnson syndromePMID:10053008 PMID:10464142 PMID:11266082 PMID:11477083 PMID:11901087 PMID:12087194 PMID:12388192 PMID:12395335 PMID:12942343 PMID:15180328 PMID:15519273 PMID:15777714 PMID:15821043 PMID:15870973 PMID:16012956 PMID:16199547 PMID:16549534 PMID:16847695 PMID:16952291 PMID:17576681 PMID:18334920 PMID:18445995 PMID:18673259 PMID:18974617 PMID:20799350 PMID:20849526 PMID:20981092 PMID:21044052 PMID:21449672 PMID:21691255 PMID:22290738 PMID:22318656 PMID:23557583 PMID:24033266 PMID:25087612 PMID:25111166 PMID:25336012 PMID:25741868 PMID:25741895 PMID:27604170 PMID:27706244 PMID:27882152 PMID:28492532 PMID:28713894 PMID:29499989 PMID:30344695 PMID:30366773 PMID:31450232 PMID:31544333 PMID:31564432 PMID:32183854 PMID:32758197 PMID:33470920 PMID:33585635 PMID:34150028 PMID:35477852 PMID:36777185 PMID:9185779 PMID:9425227 PMID:9536098 PMID:9878557
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