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