Genopathy
Gene-Disorder Association · Article
Gene
PPOX
Protoporphyrinogen Oxidase
Disorder
Porphyria
First reported 1993
Supporting publications 6
Key publication · gene–disorder Evidence for involvement of a second genetic locus on chromosome 11q in porphyrin metabolism.Human genetics · 1993
Key publication · disorder Studies in congenital porphyria. 2. Incorporation of 15N in the stercobilin in the normal and in the porphyric.The Biochemical journal · 1950
Manually curated
Association Review

In brief

The association between PPOX (Protoporphyrinogen Oxidase) and Porphyria is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 10
Compounds 0
Trials 0
Publications 6
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
PPOX

The gene

1 source summary

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

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04
Porphyria

The disorder

11 database identifiers

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

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05
Mechanism overlap

Shared mechanisms

1 shared pathway

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

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06
Literature

Reading

6 publications

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

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07
Provenance

References & sources

14 references

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

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