SCA6_CACNA1A
- Gene
- CACNA1A
- Disease
- SCA6
- Inheritance
- AD
- Classification
- Definitive
- Total Score
- 18
- Publications Reviewed
- 5
- Publication Span
- 19.53 years
- Last Updated
- 8/12/2025
- 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:39996131 | 6 | |||
| Collective Evidence | Segregation | PMID:15026782 | 1.5 | |||
| Statistics | Case-Control Data | PMID:8988170 | 6 | |||
| Collective Evidence | Allele | PMID:39996131 | 2 |
4 rows
Experimental evidence
Total: 6
| Function | Biochemical function | PMID:8988170 | 0.5 | |||
| Function | Protein interaction | PMID:8988170 | 0.5 | |||
| Function | Biochemical function | PMID:23331413 | 0.5 | transc silencing | ||
| Function | Protein interaction | PMID:23331413 | 0.5 | |||
| Function | Regulatory Impact | PMID:8988170 | 1.5 | |||
| Functional Alteration | Patient cells | PMID:23331413 | 1 | |||
| Functional Alteration | Non-patient cells | PMID:23331413 | 0.5 | |||
| Models | Non-human model organism | PMID:23331413 | 3.5 | |||
| Models | Non-human model organism | PMID:27412786 | 2 | mouse | ||
| Rescue | Rescue in non-human model organism | PMID:27412786 | 2 | mouse |
10 rows