Genopathy
Gene-Disorder Association · Article
Gene
ETV1
ETS Variant Transcription Factor 1
Disorder
Ewing Sarcoma
First reported 1995
Supporting publications 2
Key publication · gene–disorder A variant Ewing's sarcoma translocation (7;22) fuses the EWS gene to the ETS gene ETV1.Oncogene · 1995
Key publication · disorder Ewing's tumor of the orbit; report of 2 cases.American journal of ophthalmology · 1950
Manually curated
Association Review

In brief

The association between ETV1 (ETS Variant Transcription Factor 1) and Ewing Sarcoma is a manually-curated gene–disease association, supported by 2 contributing sources, 1 of them expert-curated.

Sources 2
Clinical variants 0
Symptoms 50
Compounds 0
Trials 0
Publications 2
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
ETV1

The gene

1 source summary

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

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04
Ewing Sarcoma

The disorder

44 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

38 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Literature

Reading

2 publications

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

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07
Provenance

References & sources

8 references

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

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