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
Isolated Anophthalmia-Microphthalmia Syndrome causative
mechanism: Failure of Optic Cup Invagination and Growth
subtype: MCOP4
scoped to subtype: MCOP4
Klippel-Feil Syndrome causative
mechanism: BMP Ligand Signaling Defect at Developing Vertebral Boundaries
subtype: KFS1
scoped to subtype: KFS1
Humeroradial Synostosis untyped
Associated
Multiple Synostoses Syndrome untyped
Causative
mechanism: BMP Signaling Dysregulation

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