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GENE - TERM ANNOTATION REPORT

RGD ID: 1310227
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Dcdc2
Name: doublecortin domain containing 2
Acc ID: DOID:14268
Term: sclerosing cholangitis
Definition: Chronic inflammatory disease of the BILIARY TRACT. It is characterized by fibrosis and hardening of the intrahepatic and extrahepatic biliary ductal systems leading to bile duct strictures, CHOLESTASIS, and eventual BILIARY CIRRHOSIS.
Definition Source(s): MESH:D015209
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)
Dcdc2 ISODCDC2 (Homo sapiens)11568452RGDDNA:missense mutation, deletion:cds:p.K17N, p.F142_R186del (human) 
Dcdc2 ISODCDC2 (Homo sapiens)7240710OMIM  
Dcdc2 ISODCDC2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Dcdc2 ISODCDC2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Isolated neonatal sclerosing cholangitisPMID:16199547 PMID:23677054 PMID:23746548 PMID:25557784 PMID:25741868 PMID:26467025 PMID:27319779 PMID:27469900 PMID:28440294 PMID:28461130 PMID:28461131 PMID:28492532 PMID:31589614 PMID:31821705 PMID:32205117
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