Genopathy
Gene-Disorder Association · Article
Gene
IRGM
Immunity Related GTPase M
Disorder
Inflammatory Bowel Disease 19
First reported 2007
Key publication · gene–disorder Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.Nature genetics · 2007
Key publication · disorder Platelet count, platelet function, coagulation activity and fibrinolysis in the acute phase of inflammatory bowel disease.Journal of clinical chemistry and clinical biochemistry. Zeitschrift fur klinische Chemie und klinische Biochemie · 1990
Manually curated
Association Review

In brief

The association between IRGM (Immunity Related GTPase M) and Inflammatory Bowel Disease 19 is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording a known molecular basis and a susceptibility locus.

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

The gene

1 source summary

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

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04
Inflammatory Bowel Disease 19

The disorder

8 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
ClinVar and variant evidence

Genetic basis

1 clinical variant

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

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07
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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08
Mechanism overlap

Shared mechanisms

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

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09
Provenance

References & sources

6 references

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

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