Genopathy
Gene-Disorder Association · Article
Gene
VKORC1
Vitamin K Epoxide Reductase Complex Subunit 1
Disorder
Coumarin Resistance
First reported 2004
Supporting publications 9
Key publication · gene–disorder Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.Nature · 2004
Key publication · disorder HEREDITARY TRANSMISSION OF EXCEPTIONAL RESISTANCE TO COUMARIN ANTICOAGULANT DRUGS. THE FIRST REPORTED KINDRED.The New England journal of medicine · 1964
Manually curated
Association Review

In brief

The association between VKORC1 (Vitamin K Epoxide Reductase Complex Subunit 1) and Coumarin Resistance is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and causative variation.

Sources 2
Clinical variants 0
Symptoms 3
Compounds 0
Trials 0
Publications 9
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

2 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
VKORC1

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Coumarin Resistance

The disorder

10 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

1 clinical feature

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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07
Literature

Reading

9 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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08
Provenance

References & sources

12 references

Every source and publication cited across this dossier, as one numbered reference list.

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