Association Review
In brief The association between SQSTM1 (Sequestosome 1) and Paget Disease Of Bone 2, Early-Onset is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.
Sources
1
Clinical variants
673
Symptoms
31
Compounds
0
Trials
0
Publications
36
Contents
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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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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A gene summary alongside the source descriptions it was distilled from.
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Paget Disease Of Bone 2, Early-Onset
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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Phenotype
Clinical features 22 clinical features
The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.
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ClinVar and variant evidence
Genetic basis 673 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
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Mechanism overlap
Shared mechanisms Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
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Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
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Provenance
References & sources 12 references
Every source and publication cited across this dossier, as one numbered reference list.
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