Aliases: JBTS12.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Acrocallosal Syndrome | causative germline |
mechanism: KIF7 Cilium-Tip Dysfunction and Impaired Hedgehog Signal Transduction
|
| Meckel Syndrome | modifier germline | |
| Hydrolethalus Syndrome 2 |
untyped
Causative
|
|
| Joubert syndrome |
untyped
Causative
|
mechanism: Defective Sonic hedgehog signaling
|
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
untyped
Causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.