Genopathy
Gene-Disorder Association · Article
Gene
SH3TC2
SH3 Domain And Tetratricopeptide Repeats 2
Disorder
Mononeuropathy Of The Median Nerve, Mild
First reported 2010
Supporting publications 12
Key publication · gene–disorder Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.The New England journal of medicine · 2010
Key publication · disorder Stenosis of carpal tunnel compression of median nerve and flexor tendon sheaths combined with rheumatoid arthritis elsewhere.Proceedings of the Royal Society of Medicine · 1950
Manually curated
Association Review

In brief

The association between SH3TC2 (SH3 Domain And Tetratricopeptide Repeats 2) and Mononeuropathy Of The Median Nerve, Mild is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 581
Symptoms 18
Compounds 0
Trials 0
Publications 12
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

4 sources

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

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03
SH3TC2

The gene

1 source summary

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

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04
Mononeuropathy Of The Median Nerve, Mild

The disorder

11 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

3 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

581 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

12 publications

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

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09
Provenance

References & sources

15 references

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

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