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: ASD9
|
| Congenital Diaphragmatic Hernia | causative de novo | |
| Congenital Heart Disease | causative |
mechanism: Cardiac Neural Crest Migration and Outflow Tract Septation Failure
scoped to subtype: CTD
|
| Pancreatic Agenesis | causative germline |
mechanism: GATA6 Haploinsufficiency
subtype: GATA6
scoped to subtype: GATA6
|
| Persistent Truncus Arteriosus | causative de novo | |
| Congenital Renal Artery Stenosis |
untyped
Rare monogenic vasculopathy gene in midaortic syndrome
|
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 | Limited 2026-02-20 |
Dilated Cardiomyopathy
not named
|
| GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540 | AD | Definitive 2026-02-25 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.