In the knowledge base · computed from kb/ at build time

Disorders

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.

DisorderRelationshipWhere 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
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.