Genopathy
Gene-Disorder Association · Article
Gene
F13A1
Coagulation Factor XIII A Chain
Disorder
Factor Xiii, A Subunit, Deficiency Of
First reported 1995
Supporting publications 24
Key publication · gene–disorder Mutations causing coagulation factor XIII subunit A deficiency: characterization of the mutant proteins after expression in yeast.Blood · 1995
Key publication · disorder A hitherto undescribed congenital haemorrhagic diathesis probably due to fibrin stabilizing factor deficiency.Thrombosis et diathesis haemorrhagica · 1960
Manually curated
Association Review

In brief

The association between F13A1 (Coagulation Factor XIII A Chain) and Factor Xiii, A Subunit, Deficiency Of is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 129
Symptoms 22
Compounds 0
Trials 0
Publications 24
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

4 sources

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

Request access
03
F13A1

The gene

1 source summary

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

Request access
04
Factor Xiii, A Subunit, Deficiency Of

The disorder

4 database identifiers

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

Request access
05
Phenotype

Clinical features

12 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

129 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

24 publications

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

Request access
09
Provenance

References & sources

14 references

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

Request access