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 Long QT Syndrome causative
subtype: Type 16
scoped to subtype: Type 16
RYR2 CPVT untyped
Causative
mechanism: Triadin Deficiency
subtype: CPVT5
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 AR Strong
2020-04-24
no dismech entry
catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 AR Definitive
2021-01-20
RYR2 CPVT untyped
Mechanism modules · computed from kb/

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