SCA1_ATXN1
- Gene
- ATXN1
- Disease
- SCA1
- Inheritance
- AD
- Classification
- Definitive
- Total Score
- 16.5
- Publications Reviewed
- 6
- Publication Span
- 34.02 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: 12
| Singular Evidence | Probands | PMID:3165612 | 6 | |||
| Collective Evidence | Allele | PMID:30933216 | 2 | |||
| Collective Evidence | Segregation | PMID:3165612 | 1.5 | |||
| Statistics | Case-control data | PMID:39096063 PMID:20502998 PMID:19028133 | 6 |
4 rows
Experimental evidence
Total: 4.5
| Function | Biochemical function | PMID:8358429 | 0.5 | |||
| Function | Protein interaction | PMID:8358429 | 0.5 | |||
| Function | Regulatory Impact | PMID:8358429 PMID:35245110 | 1.5 | |||
| Functional Alteration | Patient cells | PMID:35573049 | 0.5 | |||
| Functional Alteration | Non-patient cells | PMID:35573049 | 1 | |||
| Models | Non-human model organism | PMID:35573049 | 0.5 |
6 rows