Genopathy
Gene-Disorder Association · Article
Gene
CD40
CD40 Molecule
Disorder
Inflammatory Bowel Disease
First reported 2006
Supporting publications 2
Key publication · gene–disorder The proportion of CD40+ mucosal macrophages is increased in inflammatory bowel disease whereas CD40 ligand (CD154)+ T cells are relatively decreased, suggesting differential modulation of these costimulatory molecules in human gut lamina propria.Inflammatory bowel diseases · 2006
Key publication · disorder Thrombocytosis in chronic inflammatory bowel disease.Annals of internal medicine · 1968
Manually curated
Association Review

In brief

The association between CD40 (CD40 Molecule) and Inflammatory Bowel Disease is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
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

1 source

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

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03
CD40

The gene

1 source summary

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

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04
Inflammatory Bowel Disease

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
Population genetics

GWAS signals

1 GWAS phenotype

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

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06
Literature

Reading

2 publications

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

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07
Provenance

References & sources

5 references

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

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