DRPLA_ATN1
- Gene
- ATN1
- Disease
- DRPLA
- Inheritance
- AD
- Classification
- Definitive
- Total Score
- 12.5
- Publications Reviewed
- 3
- Publication Span
- 22.08 years
- Last Updated
- 08/12/2025
- Curator(s)
- Macayla Weiner, Laurel Hiatt
Genetic evidence
Total: 8
| Singular Evidence | Probands | PMID:6808417 | 6 | 5 probands |
| Collective Evidence | Allele | PMID:4114795 | 2 | a higher number of CAG repeats correlates with earlier onset of DRPLA and higher chance of epilepsy |
2 rows
Experimental evidence
Total: 4.5
| Function | Protein interaction | PMID:7842016 | 1 | |
| Function | Regulatory impact | PMID:7842016 | 0.5 | |
| Functional Alteration | Patient cells | PMID:7842016 | 1 | |
| Models | Non-human model organism | PMID:7842016 | 2 |
4 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.