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: ASD2
|
| Congenital Diaphragmatic Hernia | causative | |
| Congenital Heart Disease | causative |
mechanism: Cardiac Septation Transcription Factor Network Failure
scoped to subtype: Septal
|
| Double Outlet Right Ventricle | susceptibility | |
| Ebstein Anomaly | susceptibility germline |
dataset: geo:GSE7527
|
| Ventricular Septal Defect | causative |
mechanism: Cardiac Septation Transcriptional Program Disruption
|
| 8p Inverted Duplication Deletion Syndrome | untyped | |
| Holt-Oram syndrome | no genetic record |
mechanism: Cofactor and Chromatin Remodeling Dysfunction
|
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 |
|---|---|---|---|
| GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes MONDO:0100009 | AD | Definitive 2026-05-05 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.