Annotation Detail
Information
- Associated Genes
- POLG
- Associated Variants
-
POLG p.Ala467Thr (p.A467T)
(
ENST00000268124.11,
ENST00000636937.2,
ENST00000442287.6 )
POLG p.Ala467Thr (p.A467T) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- Alpers Syndrome (disorder)
- Source Database
- DisGeNET
- Description
- Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
- Pubmed
- 11431686
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.48868613990657
- Year of publication
- 2001
Drugs