In the knowledge base · 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
Distal Hereditary Motor Neuronopathy Type 5B causative germline neomorphic
mechanism: REEP1 Exon 5 Skipping Variant
Hereditary Spastic Paraplegia causative
mechanism: Tubular ER-Shaping Protein Network Defect (SPG12/SPG31/SPG72)
subtype: SPG31
scoped to subtype: SPG31
Mechanism modules · computed from kb/

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