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
- Diffuse Cerebral Sclerosis of Schilder
- Source Database
- DisGeNET
- Description
- Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.
- Pubmed
- 18783964
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.139507596006318
- Year of publication
- 2009
Drugs