Genopathy
Gene-Disorder Association · Article
Gene
ARHGEF15
Rho Guanine Nucleotide Exchange Factor 15
Manually curated
Association Review

In brief

The association between ARHGEF15 (Rho Guanine Nucleotide Exchange Factor 15) and Developmental And Epileptic Encephalopathy is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.

Sources 2
Clinical variants 594
Symptoms 0
Compounds 0
Trials 0
Publications 0
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

2 sources

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

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03
ARHGEF15

The gene

1 source summary

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

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04
Developmental And Epileptic Encephalopathy

The disorder

2 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

594 clinical variants

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

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06
Provenance

References & sources

3 references

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

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