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 |
|---|---|---|
| Atrial Septal Defect | causative germline |
mechanism: Abnormal Atrial Septation
subtype: ASD4
|
| Congenital Heart Disease | causative |
mechanism: Cardiac Septation Transcription Factor Network Failure
scoped to subtype: Septal
|
| Double Outlet Right Ventricle | susceptibility germline | |
| Dilated Cardiomyopathy |
untyped
Pathogenic Variants
|
mechanism: Cardiac Transcriptional and Developmental Program Dysregulation
|
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 | Strong 2026-02-20 |
Dilated Cardiomyopathy
untyped
|
| congenital heart disease MONDO:0005453 | AD | Definitive 2026-07-07 |
Congenital Heart Disease
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.