| Gene | Associated with SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
|---|---|---|---|---|---|
| B3GALT6 | ClinVar, OMIM, HUMSAVAR | HGNC link | 1p36.33 | 2 | 271640, 615349 |