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
Agenesis of the Corpus Callosum with Peripheral Neuropathy causative germline
mechanism: SLC12A6 KCC3 loss of function
animal model: mouse
Charcot-Marie-Tooth Disease Type 2 causative
mechanism: Reduced KCC3 Potassium-Chloride Cotransport
subtype: CMT2II
scoped to subtype: CMT2II

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