Genopathy
Gene-Disorder Association · Article
Gene
PNP
Purine Nucleoside Phosphorylase
Disorder
Immune Deficiency Disease
First reported 1994
Supporting publications 7
Key publication · gene–disorder Potentiating effect of (2-[2-[(2-amino-1,6-dihydro-6-oxo-9H-purin-9-yl)methyl]-phenyl]ethenyl) -phosphonic acid (MDL 74,428), a potent inhibitor of purine nucleoside phosphorylase, on the antiretroviral activities of 2',3'-dideoxyinosine combined with ribavirin in mice.Biochemical pharmacology · 1994
Key publication · disorder Combined immune deficiency disease: its radiographic expression.Radiology · 1968
Manually curatedApproved treatment annotated
Association Review

In brief

The association between PNP (Purine Nucleoside Phosphorylase) and Immune Deficiency Disease is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 9
Compounds 1
Trials 0of 134 via PNP compounds
Publications 7
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
PNP

The gene

1 source summary

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

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04
Immune Deficiency Disease

The disorder

19 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

1 clinical feature

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

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06
Interventions

Therapeutics

1 compound or drug

Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.

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07
Human studies

Clinical trials

134 clinical trials

Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.

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08
Literature

Reading

7 publications

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

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09
Provenance

References & sources

13 references

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

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