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.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| arrhythmogenic right ventricular cardiomyopathy | causative germline |
mechanism: Intercalated-disc adhesion failure
|
| PKP2_Cardiomyopathy |
untyped
Causative
|
mechanism: Desmosomal Disruption
|
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 disease | MOI | Classification | dismech entry |
|---|---|---|---|
| dilated cardiomyopathy MONDO:0005021 | AD | Disputed 2025-05-30 |
Dilated Cardiomyopathy
not named
|
| arrhythmogenic right ventricular cardiomyopathy MONDO:0016587 | AD | Definitive 2018-03-08 |
|
| catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 | AD | Disputed 2021-01-20 |
RYR2 CPVT
not named
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.