DRPLA_ATN1
- Gene
- ATN1
- Disease
- DRPLA
- Inheritance
- AD
- Classification
- Definitive
- Total Score
- 12.5
- Publications Reviewed
- 3
- Publication Span
- 12.17 years
- Last Updated
- 8/12/25
- Curator(s)
- Macayla Weiner, Laurel Hiatt
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.
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