Genopathy
Gene-Disorder Association · Article
Gene
SMAD4
SMAD Family Member 4
Disorder
Familial Thoracic Aortic Aneurysm And Aortic Dissection
First reported 1961
Supporting publications 27
Key publication · disorder [2 clinically diagnosed cases of idiopathic median necrosis of the aorta (Gsell-Erdheim disease)].Zeitschrift fur Kreislaufforschung · 1961
Manually curated
Association Review

In brief

The association between SMAD4 (SMAD Family Member 4) and Familial Thoracic Aortic Aneurysm And Aortic Dissection is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 937
Symptoms 44
Compounds 0
Trials 0
Publications 27
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
SMAD4

The gene

1 source summary

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

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04
Familial Thoracic Aortic Aneurysm And Aortic Dissection

The disorder

5 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

41 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

937 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

27 publications

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

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09
Provenance

References & sources

14 references

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

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