Genopathy
Gene-Disorder Association · Article
Gene
ARHGEF10
Rho Guanine Nucleotide Exchange Factor 10
Disorder
Slowed Nerve Conduction Velocity, Autosomal Dominant
First reported 1978
Supporting publications 1
Key publication · disorder A method for determining median nerve conduction velocity across the carpal tunnel.Journal of the neurological sciences · 1978
Manually curated
Association Review

In brief

The association between ARHGEF10 (Rho Guanine Nucleotide Exchange Factor 10) and Slowed Nerve Conduction Velocity, Autosomal Dominant is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis and a causative germline mutation.

Sources 4
Clinical variants 44
Symptoms 6
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

4 sources

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

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03
ARHGEF10

The gene

1 source summary

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

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04
Slowed Nerve Conduction Velocity, Autosomal Dominant

The disorder

7 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

44 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

1 publication

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

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09
Provenance

References & sources

9 references

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

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