| Gene | Associated with SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
|---|---|---|---|---|---|
| COL2A1 | ClinVar, OMIM, HUMSAVAR | HGNC link | 12q13.11 | 14 | 616583, 150600, PS108300, 132450, 271700, 609162, 184250, 604864, 215150, 608805, 183900, PS200600, 151210, 156550 |