Genopathy
Gene-Disorder Association · Article
Gene
CXCR2
C-X-C Motif Chemokine Receptor 2
Disorder
Autosomal Recessive Severe Congenital Neutropenia Due To Cxcr2 Deficiency
First reported 2014
Supporting publications 1
Key publication · disorder Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.Nature genetics · 2014
Manually curated
Association Review

In brief

The association between CXCR2 (C-X-C Motif Chemokine Receptor 2) and Autosomal Recessive Severe Congenital Neutropenia Due To Cxcr2 Deficiency is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording a causative germline mutation.

Sources 2
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 1
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

2 sources

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

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03
CXCR2

The gene

2 source summaries

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

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04
Autosomal Recessive Severe Congenital Neutropenia Due To Cxcr2 Deficiency

The disorder

4 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Literature

Reading

1 publication

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

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06
Provenance

References & sources

6 references

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

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