Annotation Detail
Information
- Associated Genes
- POLG
- Associated Variants
-
POLG p.Gly737Arg (p.G737R)
(
ENST00000442287.6,
ENST00000268124.11,
ENST00000636937.2 )
POLG p.Gly737Arg (p.G737R) ( ENST00000268124.11, ENST00000636937.2, ENST00000442287.6 )
POLG p.Gly737Arg (p.G737R) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Gly737Arg (p.G737R) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
- Source Database
- DisGeNET
- Description
- Early-onset familial parkinsonism due to POLG mutations.
- Pubmed
- 16634032
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.480542883744161
- Year of publication
- 2006
Drugs