EPM_CSNK1E
- Gene
- CSNK1E
- Disease
- EPM
- Inheritance
- AR
- Classification
- Moderate
- Total Score
- 8
- Publications Reviewed
- 3
- Publication Span
- 6.67 years
- Last Updated
- 03/09/2025
- Curator(s)
- Macayla Weiner
Genetic evidence
Total: 5.5
| Singular Evidence | Probands | PMID:40751262 | 1.5 | functional, de novo proband | 1 proband |
| Statistics | Case-control data | PMID:40751262 | 4 | strong bias |
2 rows
Experimental evidence
Total: 2.5
| Function | Regulatory impact | PMID:30488659 | 1 | expression decrease +hypermethylation |
| Functional Alteration | Patient cells | PMID:32937144 | 1 | 1 proband |
| Functional Alteration | Non-patient cells | PMID:32937144 | 0.5 |
3 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.