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
Hereditary Spastic Paraplegia disputed
Huppke-Brendel syndrome untyped
Loss-of-function
mechanism: SLC33A1 acetyl-CoA transporter deficiency

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