Genopathy
Gene-Disorder Association · Article
Gene
MIR204
MicroRNA 204
Disorder
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
First reported 2015
Supporting publications 3
Key publication · disorder MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma.Proceedings of the National Academy of Sciences of the United States of America · 2015
Manually curated
Association Review

In brief

The association between MIR204 (MicroRNA 204) and Retinal Dystrophy And Iris Coloboma With Or Without Cataract is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 1
Symptoms 19
Compounds 0
Trials 0
Publications 3
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

4 sources

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

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03
MIR204

The gene

1 source summary

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

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04
Retinal Dystrophy And Iris Coloboma With Or Without Cataract

The disorder

7 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

5 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

1 clinical variant

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

3 publications

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

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09
Provenance

References & sources

10 references

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

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