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 Epilepsy with Auditory Features causative germline
Genetic Developmental and Epileptic Encephalopathy causative
mechanism: Genetic Lesion in an Ion Channel or Synaptic Gene
subtype: DEE121
scoped to subtype: DEE121
ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen diseaseMOIClassificationdismech entry
autosomal dominant epilepsy with auditory features MONDO:0010898 AD Definitive
2020-07-07

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