SCA51_THAP11
- Gene
- THAP11
- Disease
- SCA51
- Inheritance
- AD
- Classification
- Definitive
- Total Score
- 14
- Publications Reviewed
- 4
- Publication Span
- 21.16 years
- Last Updated
- 08/18/2025
- Curator(s)
- Macayla Weiner, Laurel Hiatt
Genetic evidence
Total: 10
| Singular Evidence | Probands | PMID:39651830 PMID:37148549 | 4.5 | 3 probands, 2 probands |
| Collective Evidence | Allele | PMID:39651830 | 2 | |
| Collective Evidence | Computational | PMID:15368101 PMID:39651830 PMID:37148549 | 2 | (protein simulation and polymorphic), (polymorphic across populations), (protein simulation) |
| Collective Evidence | Segregation | PMID:37148549 | 1.5 |
4 rows
Experimental evidence
Total: 4
| Function | Biochemical function | PMID:24677642 | 0.5 | transcription |
| Function | Protein interaction | PMID:24677642 | 0.5 | |
| Functional Alteration | Patient cells | PMID:24677642 | 2 | cell line |
| Functional Alteration | Non-patient cells | PMID:37148549 | 1 | replicated findings from patient cells in two cell types |
4 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.