Genopathy
Gene-Disorder Association · Article
Gene
TBXAS1
Thromboxane A Synthase 1
Disorder
Bleeding Disorder, Platelet-Type, 14
First reported 1980
Key publication · disorder Severe bleeding associated with defective thromboxane synthetase.Lancet (London, England) · 1980
Manually curated
Association Review

In brief

The association between TBXAS1 (Thromboxane A Synthase 1) and Bleeding Disorder, Platelet-Type, 14 is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.

Sources 2
Clinical variants 3
Symptoms 8
Compounds 0
Trials 0
Publications 0
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
TBXAS1

The gene

1 source summary

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

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04
Bleeding Disorder, Platelet-Type, 14

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

3 clinical variants

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

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07
Provenance

References & sources

4 references

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

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