Genopathy
Gene-Disorder Association · Article
Gene
PAH
Phenylalanine Hydroxylase
Disorder
Disease Of Metabolism
First reported 1990
Supporting publications 16
Key publication · gene–disorder A single origin of phenylketonuria in Yemenite Jews.Nature · 1990
Key publication · disorder A system of physiodynamics and its application to the neuroendocrinology of psychiatry; part II of physiodynamics and some major metabolic disorders.Journal of clinical and experimental psychopathology · 1950
Manually curated
Association Review

In brief

The association between PAH (Phenylalanine Hydroxylase) and Disease Of Metabolism is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 1
Compounds 0
Trials 0
Publications 16
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
PAH

The gene

1 source summary

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

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04
Disease Of Metabolism

The disorder

9 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

16 publications

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

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07
Provenance

References & sources

12 references

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

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