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
Familial Atrial Fibrillation causative germline
mechanism: Atrial Ion-Channel or Coupling Variant; Shortened Atrial Action Potential and Refractoriness
subtype: KCNE2-related
scoped to subtype: KCNE2-related
Familial Long QT Syndrome disputed
mechanism: QT-Prolonging Drug Unmasking of Reduced Repolarization Reserve
subtype: Type 6
scoped to subtype: Type 6
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
long QT syndrome MONDO:0002442 AD Disputed
2020-12-15
no dismech entry
Mechanism modules · computed from kb/

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