Genopathy
Gene-Disorder Association · Article
Gene
SMARCA4
SWI/SNF Related BAF Chromatin Remodeling Complex Subunit ATPase 4
Disorder
Smarca4-Deficient Sarcoma Of Thorax
First reported 2017
Supporting publications 1
Key publication · disorder SMARCA4-deficient thoracic sarcoma: a distinctive clinicopathological entity with undifferentiated rhabdoid morphology and aggressive behavior.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2017
Manually curated
Association Review

In brief

The association between SMARCA4 (SWI/SNF Related BAF Chromatin Remodeling Complex Subunit ATPase 4) and Smarca4-Deficient Sarcoma Of Thorax is a manually-curated gene–disease association, drawing on a single expert-curated source, which records causative variation.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 1
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
SMARCA4

The gene

2 source summaries

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

Request access
04
Smarca4-Deficient Sarcoma Of Thorax

The disorder

4 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Literature

Reading

1 publication

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

Request access
06
Provenance

References & sources

5 references

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

Request access