| Dataset | DISEASES Curated Gene-Disease Association Evidence Scores 2025 |
| Category | disease or phenotype associations |
| Type | disease |
| Description | An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. (Human Disease Ontology, DOID_0080047) |
| Similar Terms | |
| Downloads & Tools |
1 genes involed in the disease Pseudoachondroplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
| Symbol | Name | Standardized Value |
|---|---|---|
| COMP | cartilage oligomeric matrix protein | 5.0 |
