Gene-Disorder Association · Article
Gene
VKORC1 Vitamin K Epoxide Reductase Complex Subunit 1
×
First reported
1950
Supporting publications
1
Approved treatment annotated
Association Review
In brief The association between VKORC1 (Vitamin K Epoxide Reductase Complex Subunit 1) and Thrombophilia Due To Thrombin Defect is supported by expert-curated evidence, supported by a single expert-curated source.
Sources
1
Clinical variants
1
Symptoms
8
Compounds
2
Trials
96 of 464 via VKORC1 compounds
Publications
1
Contents
01
At a glance
Association overview A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
Request access 02
Provenance
Evidence and sources 1 source
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
Request access 1 source summary
A gene summary alongside the source descriptions it was distilled from.
Request access 04
Thrombophilia Due To Thrombin Defect
The disorder 13 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
Request access 05
Phenotype
Clinical features 5 clinical features
The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.
Request access 06
ClinVar and variant evidence
Genetic basis 1 clinical variant
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
Request access 07
Interventions
Therapeutics 2 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
Request access 08
Human studies
Clinical trials 464 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
Request access 1 publication
Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
Request access 10
Provenance
References & sources 11 references
Every source and publication cited across this dossier, as one numbered reference list.
Request access 
