Genopathy
Gene-Disorder Association · Article
Gene
SMAD3
SMAD Family Member 3
Disorder
Familial Thoracic Aortic Aneurysm And Aortic Dissection
First reported 2011
Supporting publications 50
Key publication · gene–disorder Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.Nature genetics · 2011
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 SMAD3 (SMAD Family Member 3) 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 and likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 917
Symptoms 44
Compounds 0
Trials 0
Publications 50
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

3 sources

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

Request access
03
SMAD3

The gene

1 source summary

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

Request access
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).

Request access
05
Phenotype

Clinical features

41 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

917 clinical variants

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

Request access
07
Population genetics

GWAS signals

1 GWAS phenotype

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

Request access
08
Mechanism overlap

Shared mechanisms

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

Request access
09
Literature

Reading

50 publications

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

Request access
10
Provenance

References & sources

15 references

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

Request access