CPEO_POLG
- Gene
- POLG
- Disease
- CPEO
- Inheritance
- Classification
- Disputed
- Total Score
- 7.5
- Publications Reviewed
- 1
- Publication Span
- Last Updated
- 08/18/2025
- Curator(s)
- Macayla Weiner, Laurel Hiatt
Description
This locus is a proposed modifier to Parkinson's disease and has little evidence supporting it's causative role [@pmid:19043662]. This locus also has conflicting evidence on the association between the repeat and progressive external opthalmoplegia.
Genetic evidence
Total: 6
| Singular Evidence | Probands | PMID:22963882 | 6 | 191 patients |
1 rows
Experimental evidence
Total: 1.5
| Function | Biochemical function | PMID:22963882 | 0.5 | Evidence of mechanistic relationship between mitochondrial dysfunction and disease biology. |
| Function | Protein interaction | PMID:22963882 | 0.5 | Altered protien interaction. |
| Function | Regulatory impact | PMID:22963882 | 0.5 | Evidence of altered expression downstream of the repeat. |
3 rows
Note: Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.