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GENE - TERM ANNOTATION REPORT

RGD ID: 732180
Species: Mus musculus
RGD Object: Gene
Symbol: Polg
Name: polymerase (DNA directed), gamma
Acc ID: DOID:9007383
Term: Chemical and Drug Induced Liver Injury
Definition: A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, herbal and dietary supplements and chemicals from the environment.
Definition Source(s): MESH:D056486
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)
Polgno_associationIAGP 15039297RGDDNA:missense mutations:cds:p.Q1236H, p.E1143G (33708G>T, 3428A>G) (human) 
PolgsusceptibilityIAGP 15039302RGDDNA:missense mutation:cds:p.W748S, p.E1143G (2243G>C, 3428A>G) (human) 
Polg ISOPOLG (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:18208989 PMID:20138553
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