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
North Carolina Macular Dystrophy untyped
Causative
mechanism: Cis-Regulatory PRDM13 Dysregulation
Pontocerebellar Hypoplasia untyped
Causative
mechanism: Cerebellar GABAergic Neuron Specification Failure
subtype: PCH17
scoped to subtype: PCH17

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