Annotation Detail
Information
- Associated Genes
- POLG
- Associated Variants
-
POLG p.Tyr955Cys (p.Y955C)
(
ENST00000636937.2,
ENST00000268124.11,
ENST00000442287.6 )
POLG p.Tyr955Cys (p.Y955C) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- Parkinsonian Disorders
- Source Database
- DisGeNET
- Description
- Neuromelanin MRI in a family with mitochondrial parkinsonism harboring a Y955C mutation in POLG1.
- Pubmed
- 23673011
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.140417729536008
- Year of publication
- 2013
Drugs