Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 5428
  • Symbol: POLG
  • Description: DNA polymerase gamma, catalytic subunit

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Disease_Term Source Rank Other Values
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3) OMIM high
  • Genome region : 15q26.1
  • OMIM_ID : 174763 OMIM gene ID
  • OMIM_ID : 607459 OMIM phenotype ID
Progressive external ophthalmoplegia, autosomal dominant 1, 157640 (3) OMIM high
  • Genome region : 15q26.1
  • OMIM_ID : 157640 OMIM phenotype ID
  • OMIM_ID : 174763 OMIM gene ID
Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3) OMIM high
  • Genome region : 15q26.1
  • OMIM_ID : 174763 OMIM gene ID
  • OMIM_ID : 203700 OMIM phenotype ID
Progressive external ophthalmoplegia, autosomal recessive 1, 258450 (3) OMIM high
  • Genome region : 15q26.1
  • OMIM_ID : 174763 OMIM gene ID
  • OMIM_ID : 258450 OMIM phenotype ID
Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3) OMIM high
  • Genome region : 15q26.1
  • OMIM_ID : 174763 OMIM gene ID
  • OMIM_ID : 613662 OMIM phenotype ID
Height GWAS high
Menopause (age at onset) GWAS high