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
Childhood Absence Epilepsy susceptibility germline
mechanism: Genetic Susceptibility to Absence Epilepsy
Familial Hemiplegic Migraine susceptibility germline
familial hyperaldosteronism causative germline
mechanism: CACNA1H gain-of-function calcium influx
subtype: Type IV
scoped to subtype: Type IV
Juvenile Absence Epilepsy modifier germline

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