In the knowledge base ยท 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
Congenital Stationary Night Blindness causative
mechanism: Presynaptic Calcium Channel Defect at the Photoreceptor Ribbon Synapse
subtype: CSNB2B
scoped to subtype: icCSNB
Familial Sleep-Related Hypermotor Epilepsy untyped
Reported disease-causing germline genes

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