Aliases: VKCFD1.
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 |
|---|---|---|
| Vitamin K-Dependent Coagulation Factor Deficiency | causative germline partial loss of function |
mechanism: Gamma-glutamyl carboxylase deficiency (VKCFD1)
subtype: VKCFD1
animal model: Mouse (Mus musculus)
scoped to subtype: VKCFD1
|
| Chlorophacinone Poisoning | no genetic record |
mechanism: Impaired Gamma-Carboxylation of Vitamin K-Dependent Clotting Factors
|
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 |
|---|---|---|---|
| vitamin K-dependent clotting factors, combined deficiency of, type 1 MONDO:0010187 | AR | Definitive 2021-02-24 |
|
| pulmonary arterial hypertension MONDO:0015924 | AD | Moderate 2025-09-08 |
Pulmonary_hypertension
not named
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.