| Gene | Associated with SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
|---|---|---|---|---|---|
| TRPV4 | ClinVar, OMIM, HUMSAVAR | HGNC link | 12q24.11 | 10 | 600175, PS118220, 184095, 184252, 606835, 156530, 181405, 613508, 113500, 168400 |