Genopathy
Gene-Disorder Association · Article
Gene
TFE3
Transcription Factor Binding To IGHM Enhancer 3
Disorder
Alveolar Soft Part Sarcoma
First reported 2003
Supporting publications 7
Key publication · gene–disorder Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assay.The American journal of surgical pathology · 2003
Key publication · disorder [Paraganglial nature of tumors of organoid-endocrine structure of the skeletal muscles; with reference to the claim of new oncological entity as alveolar soft part sarcoma].Rivista di anatomia patologica e di oncologia · 1953
Manually curated
Association Review

In brief

The association between TFE3 (Transcription Factor Binding To IGHM Enhancer 3) and Alveolar Soft Part Sarcoma is a manually-curated gene–disease association, supported by 2 contributing sources, 1 of them expert-curated.

Sources 2
Clinical variants 0
Symptoms 1
Compounds 0
Trials 0
Publications 7
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
TFE3

The gene

1 source summary

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

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04
Alveolar Soft Part Sarcoma

The disorder

14 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
Literature

Reading

7 publications

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

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07
Provenance

References & sources

12 references

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

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