| Dataset | CTD Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. (Human Disease Ontology, DOID_0080045) |
| External Link | http://ctdbase.org/detail.go?type=disease&acc=MESH:C537207 |
| Similar Terms | |
| Downloads & Tools |
1 genes/proteins associated with the disease Kniest dysplasia from the curated CTD Gene-Disease Associations dataset.
| Symbol | Name | Standardized Value |
|---|---|---|
| COL2A1 | collagen, type II, alpha 1 | 2.88009 |
