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GENE - TERM ANNOTATION REPORT

RGD ID: 620057
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Polg
Name: DNA polymerase gamma, catalytic subunit
Acc ID: DOID:12558
Term: chronic progressive external ophthalmoplegia
Definition: A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)
Definition Source(s): MESH:D017246
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)
Polg ISOPOLG (Homo sapiens)737726RGDDNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human) 
Polg ISOPOLG (Homo sapiens)8694163RGDDNA:mutations:cds: 
Polg ISOPOLG (Homo sapiens)8694170RGDDNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human) 
Polg ISOPOLG (Homo sapiens)8694183RGDDNA:mutations:cds: 
Polg ISOPOLG (Homo sapiens)8694204RGDDNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human) 
Polg ISOPOLG (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:17923349
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