Aliases: GCN2, KIAA1338.
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 |
|---|---|---|
| Heritable Pulmonary Arterial Hypertension | causative |
subtype: HPAH-PVOD/PCH overlap (EIF2AK4)
scoped to subtype: HPAH-PVOD/PCH overlap (EIF2AK4)
|
| Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Haemangiomatosis | causative germline |
mechanism: EIF2AK4/GCN2 stress-response loss
|
| Pulmonary_hypertension |
untyped
Causally linked to pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangiomatosis (PCH)
|
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 |
|---|---|---|---|
| pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis MONDO:0018554 | AR | Definitive 2022-12-02 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.