Genopathy
Gene-Disorder Association · Article
Gene
CHMP4B
Charged Multivesicular Body Protein 4B
Disorder
Cataract 31, Multiple Types
First reported 2007
Supporting publications 2
Key publication · gene–disorder CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q.American journal of human genetics · 2007
Key publication · disorder Evidence for prokaryotic transcription and translation control regions in the human factor IX gene.Gene · 1987
Manually curated
Association Review

In brief

The association between CHMP4B (Charged Multivesicular Body Protein 4B) and Cataract 31, Multiple Types is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 13
Symptoms 4
Compounds 0
Trials 0
Publications 2
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

4 sources

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

Request access
03
CHMP4B

The gene

1 source summary

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

Request access
04
Cataract 31, Multiple Types

The disorder

8 database identifiers

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

Request access
05
Phenotype

Clinical features

3 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

13 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

2 publications

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

Request access
09
Provenance

References & sources

8 references

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

Request access