Annotation Detail
Information
- Associated Genes
- POLG
- Associated Variants
-
POLG p.Pro587Leu (p.P587L)
(
ENST00000442287.6,
ENST00000636937.2,
ENST00000268124.11 )
POLG p.Pro587Leu (p.P587L) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
- Source Database
- DisGeNET
- Description
- Autosomal recessive progressive external ophthalmoplegia (PEO) is one clinical disorder associated with multiple mitochondrial DNA deletions and can be caused by missense mutations in POLG, the gene encoding the mitochondrial DNA polymerase gamma.
- Pubmed
- 12825077
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.480542883744161
- Year of publication
- 2003
Drugs