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
Osteoporosis susceptibility
Sclerosteosis causative germline loss of function
mechanism: Loss of Sclerostin (SOST Loss-of-Function); Unopposed Wnt/Beta-Catenin Osteoblast Activation
subtype: SOST-related Sclerosteosis; Van Buchem Disease
scoped to subtype: SOST-related Sclerosteosis
Craniodiaphyseal Dysplasia untyped
Causative
germline dominant negative
mechanism: Loss of Sclerostin Restraint on Osteoblastic Wnt Signaling; SOST Signal Peptide Variant with Impaired Sclerostin Secretion
Van Buchem Disease untyped
Causative
Autosomal Dominant Osteosclerosis Worth Type no genetic record
mechanism: Variant-Dependent LRP5 Antagonist Resistance

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