In the knowledge base · 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
Autosomal Dominant Cerebellar Ataxia Type I untyped
Representative SCA14 missense variants
mechanism: Purkinje-Cell Calcium Signaling Dysfunction
subtype: SCA14
scoped to subtype: SCA14
Autosomal Dominant Cerebellar Ataxia no genetic record
mechanism: Conventional Dominant Disease Variant
Mechanism modules · computed from kb/

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