Genopathy
Gene-Disorder Association · Article
Gene
F11-AS1
F11 Antisense RNA 1
Disorder
Factor Xi Deficiency
First reported 1989
Supporting publications 34
Key publication · gene–disorder Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations.Proceedings of the National Academy of Sciences of the United States of America · 1989
Key publication · disorder [Relation of the Melkersson-Rosenthal syndrome to Miescher's cheilitis granulomatosis].Archiv fur Dermatologie und Syphilis · 1950
Manually curated
Association Review

In brief

The association between F11-AS1 (F11 Antisense RNA 1) and Factor Xi Deficiency is well established and manually curated, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 82
Symptoms 9
Compounds 0
Trials 0
Publications 34
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

1 source

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

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03
F11-AS1

The gene

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

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04
Factor Xi Deficiency

The disorder

11 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

9 clinical features

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

82 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

34 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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