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
Brachyolmia causative
mechanism: LTBP3 deficiency
subtype: LTBP3
animal model: Mus musculus
scoped to subtype: LTBP3
Brachyolmia-Amelogenesis Imperfecta Syndrome causative germline loss of function
mechanism: Biallelic LTBP3 Loss of Function
Geleophysic Dysplasia causative
mechanism: Fibrillin microfibril matrix dysregulation
subtype: GD3
scoped to subtype: GD3
Otosclerosis no genetic record
mechanism: Dysregulated TGF-beta Signaling in the Otic Capsule

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