Genopathy
Gene-Disorder Association · Article
Gene
SS18
SS18 Subunit Of BAF Chromatin Remodeling Complex
Disorder
Sarcoma, Synovial
First reported 1994
Supporting publications 28
Key publication · gene–disorder Identification of novel genes, SYT and SSX, involved in the t(X;18)(p11.2;q11.2) translocation found in human synovial sarcoma.Nature genetics · 1994
Key publication · disorder Synovial sarcoma (malignant synovioma); a report of 60 cases.Surgery · 1950
Manually curated
Association Review

In brief

The association between SS18 (SS18 Subunit Of BAF Chromatin Remodeling Complex) and Sarcoma, Synovial 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 28
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
SS18

The gene

1 source summary

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

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04
Sarcoma, Synovial

The disorder

10 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

28 publications

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

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07
Provenance

References & sources

13 references

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

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