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
Holoprosencephaly 9 causative germline loss of function
mechanism: GLI2 Loss-of-Function Variant
subtype: HPE-spectrum; Pituitary-Polydactyly
Medulloblastoma, SHH-Activated untyped
Amplification
Combined Pituitary Hormone Deficiencies, Genetic Form no genetic record
mechanism: Developmental Gene Disruption

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