Genopathy
Gene-Disorder Association · Article
Gene
SLCO2A1
Solute Carrier Organic Anion Transporter Family Member 2A1
Disorder
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
First reported 2005
Supporting publications 10
Key publication · gene–disorder Pachydermoperiostosis: an update.Clinical genetics · 2005
Key publication · disorder PACHYDERMOPERIOSTOSIS (IDIOPATHIC CLUBBING AND PERIOSTOSIS): GENETIC AND PHYSIOLOGIC CONSIDERATIONS.The New England journal of medicine · 1965
Manually curated
Association Review

In brief

The association between SLCO2A1 (Solute Carrier Organic Anion Transporter Family Member 2A1) and Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 3
Clinical variants 10
Symptoms 28
Compounds 0
Trials 0
Publications 10
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

3 sources

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

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03
SLCO2A1

The gene

1 source summary

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

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04
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant

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
Phenotype

Clinical features

11 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

10 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

10 publications

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

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09
Provenance

References & sources

13 references

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

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