Genopathy
Gene-Disorder Association · Article
Gene
CRYBA2
Crystallin Beta A2
Disorder
Cataract 42
First reported 1979
Key publication · disorder Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobilities of some enzymes known to be glycoproteins. 1. Clinical findings.Journal of neurology, neurosurgery, and psychiatry · 1979
Manually curated
Association Review

In brief

The association between CRYBA2 (Crystallin Beta A2) and Cataract 42 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and causative variation.

Sources 3
Clinical variants 2
Symptoms 8
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.

Request access
02
Provenance

Evidence and sources

3 sources

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

Request access
03
CRYBA2

The gene

1 source summary

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

Request access
04
Cataract 42

The disorder

9 database identifiers

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

Request access
05
Phenotype

Clinical features

4 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

2 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
Provenance

References & sources

6 references

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

Request access