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
COX4I1-Related COX Deficiency no genetic record
mechanism: HIF1A Stabilization
Spondyloepiphyseal Dysplasia, Nishimura Type no genetic record
mechanism: Repression of HIF1A and Blunted Chondrocyte Hypoxia Response; Repression of Novel Targets Acquired by the Mutant Seed

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