Genopathy
Gene-Disorder Association · Article
Gene
PDE6H
Phosphodiesterase 6H
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 PDE6H (Phosphodiesterase 6H) and Achromatopsia is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording a causative germline mutation.

Sources 2
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

2 sources

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

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03
PDE6H

The gene

2 source summaries

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

6 references

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

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