Genopathy
Gene-Disorder Association · Article
Gene
AGR2
Anterior Gradient 2, Protein Disulphide Isomerase Family Member
Disorder
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
First reported 2022
Supporting publications 2
Key publication · disorder A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.Journal of medical genetics · 2022
Manually curated
Association Review

In brief

The association between AGR2 (Anterior Gradient 2, Protein Disulphide Isomerase Family Member) and Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea is well established and manually curated, with its 4 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 8
Symptoms 50
Compounds 0
Trials 0
Publications 2
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

4 sources

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

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03
AGR2

The gene

1 source summary

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

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04
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea

The disorder

7 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

38 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

8 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

2 publications

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

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09
Provenance

References & sources

8 references

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

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