Genopathy
Gene-Disorder Association · Article
Gene
SMARCB1
SWI/SNF Related BAF Chromatin Remodeling Complex Subunit B1
Disorder
Atypical Teratoid Rhabdoid Tumor
First reported 1975
Key publication · disorder Age differences in evoked potential correlates of a memory scanning process.Experimental aging research · 1975
Manually curated
Association Review

In brief

The association between SMARCB1 (SWI/SNF Related BAF Chromatin Remodeling Complex Subunit B1) and Atypical Teratoid Rhabdoid Tumor is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording causative variation.

Sources 2
Clinical variants 0
Symptoms 17
Compounds 0
Trials 0
Publications 0
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

2 sources

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

Request access
03
SMARCB1

The gene

1 source summary

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

Request access
04
Atypical Teratoid Rhabdoid Tumor

The disorder

9 database identifiers

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

Request access
05
Phenotype

Clinical features

16 clinical features

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

Request access
06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
07
Provenance

References & sources

5 references

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

Request access