Genopathy
Gene-Disorder Association · Article
Gene
ARHGEF9
Cdc42 Guanine Nucleotide Exchange Factor 9
Disorder
Developmental And Epileptic Encephalopathy 8
First reported 2004
Supporting publications 19
Key publication · gene–disorder The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2004
Key publication · disorder [Epilepsies during the first year of life].Revista de neurologia · 1997
Manually curated
Association Review

In brief

The association between ARHGEF9 (Cdc42 Guanine Nucleotide Exchange Factor 9) and Developmental And Epileptic Encephalopathy 8 is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 373
Symptoms 22
Compounds 0
Trials 0
Publications 19
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

5 sources

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

Request access
03
ARHGEF9

The gene

1 source summary

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

Request access
04
Developmental And Epileptic Encephalopathy 8

The disorder

11 database identifiers

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

Request access
05
Phenotype

Clinical features

15 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

373 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

19 publications

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

Request access
09
Provenance

References & sources

17 references

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

Request access