Genopathy
Gene-Disorder Association · Article
Gene
SNX3
Sorting Nexin 3
Disorder
Microphthalmia, Syndromic 8
First reported 1984
Key publication · disorder Effects of dimethoxyethyl phthalate, monomethoxyethyl phthalate, 2-methoxyethanol and methoxyacetic acid on post implantation rat embryos in culture.Toxicology letters · 1984
Manually curated
Association Review

In brief

The association between SNX3 (Sorting Nexin 3) and Microphthalmia, Syndromic 8 is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1
Clinical variants 0
Symptoms 28
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.

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02
Provenance

Evidence and sources

1 source

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

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03
SNX3

The gene

1 source summary

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

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04
Microphthalmia, Syndromic 8

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

18 clinical features

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

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06
Provenance

References & sources

5 references

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

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