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
- Ophthalmoparesis
- Source Database
- DisGeNET
- Description
- Two siblings who developed fifth-decade-onset, concurrent progressive sensory ataxia, dysarthria, and ophthalmoparesis were found to be homozygous for the p.A467T mutation of the polymerase gamma (POLG) gene.
- Pubmed
- 19813183
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2010
Drugs