Gene table: search width pubmed_id = 12825077


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Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Mitochondrial DNA depletion syndrome 4B (MNGIE type) - (AR)
16.49
12825077
POLG (15q25)
Polymerase (DNA directed), gamma(M)
* Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO
* spinocerebellar ataxia with epilepsy, included - SCAE
* Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - PEOB1
* Mitochondrial DNA depletion syndrome 4B (MNGIE type) - MTDPS4B
* Mitochondrial DNA depletion syndrome 4A (Alpers type) - MTDPS4A