Genopathy
Gene-Disorder Association · Article
Gene
RFXAP
Regulatory Factor X Associated Protein
Disorder
Immune Deficiency Disease
First reported 2002
Supporting publications 4
Key publication · gene–disorder Direct genetic correction as a new method for diagnosis and molecular characterization of MHC class II deficiency.Molecular therapy : the journal of the American Society of Gene Therapy · 2002
Key publication · disorder Combined immune deficiency disease: its radiographic expression.Radiology · 1968
Manually curated
Association Review

In brief

The association between RFXAP (Regulatory Factor X Associated Protein) and Immune Deficiency Disease is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 9
Compounds 0
Trials 0
Publications 4
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
RFXAP

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
Literature

Reading

4 publications

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

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07
Provenance

References & sources

9 references

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

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