Genopathy
Gene-Disorder Association · Article
Gene
SQSTM1
Sequestosome 1
Disorder
Alzheimer'S Disease
First reported 2009
Supporting publications 4
Key publication · gene–disorder p62/SQSTM1 is overexpressed and prominently accumulated in inclusions of sporadic inclusion-body myositis muscle fibers, and can help differentiating it from polymyositis and dermatomyositis.Acta neuropathologica · 2009
Key publication · disorder Alzheimer's disease; a clinico-pathologic analysis of twenty-three cases with a theory on pathogenesis.The Journal of nervous and mental disease · 1953
Manually curated
Association Review

In brief

The association between SQSTM1 (Sequestosome 1) and Alzheimer'S Disease is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 13
Compounds 0
Trials 0
Publications 4
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
SQSTM1

The gene

1 source summary

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

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04
Alzheimer'S Disease

The disorder

18 database identifiers

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

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05
Literature

Reading

4 publications

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

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06
Provenance

References & sources

7 references

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

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