Annotation Detail
Information
- Associated Genes
- POLG
- Associated Variants
-
POLG MUTATION
POLG MUTATION - Associated Disease
- Alpers Syndrome (disorder)
- Source Database
- DisGeNET
- Description
- A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism.
- Pubmed
- 15534189
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.48868613990657
- Year of publication
- 2004
Drugs