Genopathy
Gene-Disorder Association · Article
Gene
CNNM4
Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 4
Disorder
Achromatopsia
First reported 1950
Key publication · disorder [Investigations on the classification of "incomplete" congenital achromatopsia; a form intermediate between congenital achromatopsia and protanopia].Albrecht von Graefe's Archiv fur Ophthalmologie · 1950
Manually curated
Association Review

In brief

The association between CNNM4 (Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 4) and Achromatopsia is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 20
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
CNNM4

The gene

1 source summary

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

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04
Achromatopsia

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

20 clinical features

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

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06
Mechanism overlap

Shared mechanisms

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

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07
Provenance

References & sources

5 references

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

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