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
Familial Cold Autoinflammatory Syndrome causative germline
mechanism: NLRP1 inflammasome activation
subtype: NAIAD
scoped to subtype: NAIAD
Toxoplasmosis susceptibility
Addison's Disease untyped
Inflammasome component; variants implicate inflammatory pathways
mechanism: Polygenic Susceptibility

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