Genopathy
Gene-Disorder Association · Article
Gene
SMARCA4
SWI/SNF Related BAF Chromatin Remodeling Complex Subunit ATPase 4
Disorder
Familial Hypercholesterolemia
First reported 1950
Supporting publications 1
Key publication · disorder Essential familial hypercholesterolemia: cutaneous, metabolic and hereditary aspects.Bulletin of the New York Academy of Medicine · 1950
Association Review

In brief

The association between SMARCA4 (SWI/SNF Related BAF Chromatin Remodeling Complex Subunit ATPase 4) and Familial Hypercholesterolemia is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

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.

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02
Provenance

Evidence and sources

1 source

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

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03
SMARCA4

The gene

2 source summaries

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

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04
Familial Hypercholesterolemia

The disorder

6 database identifiers

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

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05
Population genetics

GWAS signals

1 GWAS phenotype

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

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06
Literature

Reading

1 publication

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

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07
Provenance

References & sources

5 references

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

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