| Gene | Associated with CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
|---|---|---|---|---|---|
| GJA1 | ClinVar, OMIM, HUMSAVAR | HGNC link | 6q22.31 | 8 | 257850, 186100, 164200, 133200, 104100, PS606215, 218400, PS241550 |