Previous symbols: CSX, NKX2E. Aliases: CSX1, NKX2.5, NKX4-1.
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: ASD7
|
| Congenital Heart Disease | causative |
mechanism: Cardiac Septation Transcription Factor Network Failure
scoped to subtype: Septal
|
| Congenital Hypothyroidism | susceptibility |
mechanism: Thyroid Gland Dysgenesis
subtype: CHNG5
scoped to subtype: Permanent Primary
|
| Double Outlet Right Ventricle | susceptibility | |
| Ebstein Anomaly | disputed germline | |
| Hypoplastic Left Heart Syndrome | susceptibility germline |
mechanism: Genetic lesion affecting cardiac growth or valvulogenesis
|
| Tetralogy of Fallot | causative germline | |
| Ventricular Septal Defect | causative |
mechanism: Cardiac Septation Transcriptional Program Disruption
|
| Holt-Oram syndrome | no genetic record |
mechanism: Cardiac Septation and Conduction Defects; 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 |
|---|---|---|---|
| NKX2.5-related congenital, conduction and myopathic heart disease MONDO:0800441 | AD | Definitive 2024-11-07 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.