Genopathy
Gene-Disorder Association · Article
Gene
TGFBR1
Transforming Growth Factor Beta Receptor 1
Disorder
Multiple Self-Healing Squamous Epithelioma
First reported 1971
Supporting publications 5
Key publication · gene–disorder Multiple self-healing squamous epithelioma.Birth defects original article series · 1971
Key publication · disorder Familial primary self-healing squamous epithelioma of the skin. (Ferguson Smith type).The British journal of dermatology and syphilis · 1950
Manually curated
Association Review

In brief

The association between TGFBR1 (Transforming Growth Factor Beta Receptor 1) and Multiple Self-Healing Squamous Epithelioma is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, a causative germline mutation, and a susceptibility locus.

Sources 5
Clinical variants 45
Symptoms 12
Compounds 0
Trials 0
Publications 5
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

5 sources

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

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03
TGFBR1

The gene

2 source summaries

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

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04
Multiple Self-Healing Squamous Epithelioma

The disorder

9 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

6 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

45 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

5 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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