SCA17_TBP
- Gene
- TBP
- Disease
- SCA17
- Inheritance
- AD
- Classification
- Definitive
- Total Score
- 18
- Publications Reviewed
- 5
- Publication Span
- Last Updated
- 8/18/25
- 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:12805114 | 6 | 2 probands | ||
| Collective Evidence | Allele | PMID:12805114 | 2 | |||
| Statistics | Case-control data | PMID:27172828 PMID:26374734 PMID:26267067 | 6 |
3 rows
Experimental evidence
Total: 6
| Function | Regulatory Impact | PMID:35868859 PMID:32386547 | 1 | transcription alteration and change in brain expression | ||
| Functional Alteration | Patient cells | PMID:32386547 PMID:18218637 | 2 | cherry + tissue specific protein interactions | ||
| Models | Non-human model organism | PMID:18218637 | 2 | transgenic mice + cultured cells | ||
| Models | Cell culture | 1 |
4 rows