Genopathy
Gene-Disorder Association · Article
Gene
EPHA2
EPH Receptor A2
Disorder
Cataract 6, Multiple Types
First reported 2012
Supporting publications 16
Key publication · gene–disorder Human cataract mutations in EPHA2 SAM domain alter receptor stability and function.PloS one · 2012
Key publication · disorder Hereditary posterior polar cataract with report of a pedigree.The British journal of ophthalmology · 1955
Manually curated
Association Review

In brief

The association between EPHA2 (EPH Receptor A2) and Cataract 6, Multiple Types 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 208
Symptoms 7
Compounds 0
Trials 0
Publications 16
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

5 sources

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

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03
EPHA2

The gene

2 source summaries

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

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04
Cataract 6, Multiple Types

The disorder

12 database identifiers

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

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05
Phenotype

Clinical features

4 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

208 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

16 publications

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

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09
Provenance

References & sources

16 references

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

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