Genopathy
Gene-Disorder Association · Article
Gene
F5
Coagulation Factor V
Disorder
Pregnancy Loss, Recurrent 1
First reported 1997
Supporting publications 41
Key publication · gene–disorder The factor V Leiden mutation is not a common cause of recurrent miscarriage.Journal of reproductive immunology · 1997
Key publication · disorder [Management of recurrent spontaneous abortion by massive doses of diethylstilbestrol controlled by vaginal smears].Journal des sciences medicales de Lille · 1951
Manually curated
Association Review

In brief

The association between F5 (Coagulation Factor V) and Pregnancy Loss, Recurrent 1 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis, pathogenic variants, and a susceptibility locus.

Sources 3
Clinical variants 33
Symptoms 2
Compounds 0
Trials 0
Publications 41
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

3 sources

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

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03
F5

The gene

1 source summary

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

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04
Pregnancy Loss, Recurrent 1

The disorder

6 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
ClinVar and variant evidence

Genetic basis

33 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Literature

Reading

41 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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