SCA7_ATXN7
- Gene
- ATXN7
- Disease
- SCA7
- Inheritance
- AD
- Classification
- Definitive
- Total Score
- 18
- Publications Reviewed
- 7
- Publication Span
- 22.92 years
- Last Updated
- 08/12/2025
- Curator(s)
- Macayla Weiner, Laurel Hiatt
Genetic evidence
Total: 12
| Singular Evidence | Probands | 6 | ||
| Collective Evidence | Allele | 2 | ||
| Collective Evidence | Segregation | PMID:8908515 | 1.5 | |
| Statistics | Case-control data | PMID:30721448 PMID:28597910 PMID:25900954 PMID:11030806 | 6 |
4 rows
Experimental evidence
Total: 6
| Function | Biochemical function | PMID:18418675 | 0.5 | |
| Function | Protein interaction | PMID:18418675 | 0.5 | |
| Function | Regulatory impact | PMID:18418675 | 0.5 | |
| Functional Alteration | Patient cells | PMID:18418675 | 1 | |
| Functional Alteration | Non-patient cells | PMID:18418675 | 0.5 | |
| Models | Non-human model organism | PMID:18418675 | 2 | |
| Models | Cell culture | PMID:18418675 | 1 |
7 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.