Genopathy
Gene-Disorder Association · Article
Gene
TGFBR2
Transforming Growth Factor Beta Receptor 2
Disorder
Familial Thoracic Aortic Aneurysm And Aortic Dissection
First reported 2005
Supporting publications 96
Key publication · gene–disorder Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.Circulation · 2005
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 TGFBR2 (Transforming Growth Factor Beta Receptor 2) 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 990
Symptoms 44
Compounds 0
Trials 0
Publications 96
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
TGFBR2

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

990 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

96 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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