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 Hypomyelinating Neuropathy causative germline
mechanism: Paranodal Axo-Glial Junction Failure
subtype: CHN3
scoped to subtype: CHN3
Lethal Congenital Contracture Syndrome causative germline
mechanism: Node of Ranvier Assembly Failure; Paranodal Axoglial Junction Failure
subtype: LCCS7
scoped to subtype: LCCS7

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