Annotation Detail
Information
- Associated Genes
- POLG
- Associated Variants
-
POLG p.Thr251Ile (p.T251I)
(
ENST00000636937.2,
ENST00000268124.11,
ENST00000442287.6 )
POLG p.Thr251Ile (p.T251I) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
- Source Database
- DisGeNET
- Description
- Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
- Pubmed
- 12210792
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2002
Drugs