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
Neuronal Intranuclear Inclusion Disease causative germline
mechanism: NOTCH2NLC 5' UTR GGC Repeat Expansion
Oculopharyngodistal Myopathy causative
mechanism: Non-coding CGG-repeat expansion
subtype: OPDM3
scoped to subtype: OPDM3

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