Genopathy
Gene-Disorder Association · Article
Gene
CSF2RA
Colony Stimulating Factor 2 Receptor Subunit Alpha
Disorder
Pulmonary Alveolar Proteinosis
First reported 1958
Key publication · disorder Pulmonary alveolar proteinosis.The New England journal of medicine · 1958
Manually curated
Association Review

In brief

The association between CSF2RA (Colony Stimulating Factor 2 Receptor Subunit Alpha) and Pulmonary Alveolar Proteinosis is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 1
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
CSF2RA

The gene

1 source summary

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

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04
Pulmonary Alveolar Proteinosis

The disorder

6 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

2 shared pathways

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

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06
Provenance

References & sources

4 references

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

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