JBS_CBL
- Gene
- CBL
- Disease
- JBS
- Inheritance
- AD
- Classification
- Definitive
- Total Score
- 14.5
- Publications Reviewed
- 3
- Publication Span
- 5.17 years
- Last Updated
- 08/12/2025
- Curator(s)
- Macayla, Laurel
Genetic evidence
Total: 12
| Singular Evidence | Probands | PMID:7603564 | 6 | |
| Singular Evidence | Probands | PMID:7887422 PMID:10767345 | 6 | 5 patients; 24 |
2 rows
Experimental evidence
Total: 2.5
| Function | Biochemical function | PMID:7603564 | 0.5 | transc reg |
| Function | Regulatory impact | PMID:7603564 PMID:10767345 | 1 | expression + hypermethylation |
| Functional Alteration | Patient cells | PMID:7603564 PMID:10767345 | 1 |
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.