Genopathy
Gene-Disorder Association · Article
Gene
IFNAR1
Interferon Alpha And Beta Receptor Subunit 1
Disorder
Immunodeficiency 106 Viral Infections
First reported 2019
Supporting publications 7
Key publication · gene–disorder Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines.The Journal of experimental medicine · 2019
Key publication · disorder Development of a sensitive quantitative focal assay for human immunodeficiency virus infectivity.Journal of virology · 1988
Manually curated
Association Review

In brief

The association between IFNAR1 (Interferon Alpha And Beta Receptor Subunit 1) and Immunodeficiency 106 Viral Infections is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and likely-pathogenic variants.

Sources 3
Clinical variants 14
Symptoms 27
Compounds 0
Trials 0
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

3 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
IFNAR1

The gene

1 source summary

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

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04
Immunodeficiency 106 Viral Infections

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
Phenotype

Clinical features

2 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

14 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

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

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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

12 references

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

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