Genopathy
Gene-Disorder Association · Article
Gene
VPS13B
Vacuolar Protein Sorting 13 Homolog B
Disorder
Cohen Syndrome
First reported 1994
Supporting publications 88
Key publication · gene–disorder Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis.Nature genetics · 1994
Key publication · disorder [Seven cases of Stein-Leventhal-Cohen syndrome].Comptes rendus de la Societe francaise de gynecologie · 1955
Manually curated
Association Review

In brief

The association between VPS13B (Vacuolar Protein Sorting 13 Homolog B) and Cohen Syndrome is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 5,421
Symptoms 124
Compounds 0
Trials 0
Publications 88
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
VPS13B

The gene

1 source summary

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

Request access
04
Cohen Syndrome

The disorder

15 database identifiers

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

Request access
05
Phenotype

Clinical features

97 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

5,421 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

88 publications

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

Request access
09
Provenance

References & sources

16 references

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

Request access