CCD_RUNX2
- Gene
- RUNX2
- Disease
- CCD
- Inheritance
- AD
- Classification
- Definitive
- Total Score
- 15
- Publications Reviewed
- 6
- Publication Span
- 28.17 years
- Last Updated
- 08/14/2025
- Curator(s)
- Macayla Weiner, Laurel Hiatt
Genetic evidence
Total: 10.5
| Singular Evidence | Probands | PMID:26220009 | 3 | 2 probands |
| Singular Evidence | Probands | PMID:40585427 | 3 | 1 proband |
| Singular Evidence | Probands | PMID:9182765 | 3 | 1 proband |
| Collective Evidence | Computational | PMID:25852448 | 1.5 | GLUTAMINE |
4 rows
Experimental evidence
Total: 4.5
| Function | Biochemical function | PMID:32386547 | 0.5 | |
| Function | Biochemical function | PMID:24497578 | 1 | |
| Function | Regulatory impact | PMID:32386547 | 1 | |
| Functional Alteration | Non-patient cells | PMID:32386547 | 1 | |
| Functional Alteration | Non-patient cells | PMID:24497578 | 1 |
5 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.