Intestinal infectious disease

Summary

Intestinal infectious disease (MONDO:0000916) is a disease with 4 GWAS associations across 33 studies and 2 clinical trials. A subtype of gastrointestinal mucositis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 4
• Clinical trials: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	intestinal infectious disease
Mondo ID	MONDO:0000916
DOID	DOID:100
ICD-10-CM	A00-A09
SNOMED CT	266071000
UMLS	C0178238
MedGen	511728
Is cancer (heuristic)	no

Data availability: 4 GWAS associations (33 studies).

Disease family

This is a subtype of gastrointestinal mucositis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › digestive system disorder › gastrointestinal mucositis › intestinal infectious disease

Related subtypes (1): inflammatory diarrhea

Subtypes (2): dysentery, cholera

Genetics & variants

GWAS landscape

4 GWAS associations across 33 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs9269041	3e-15	HLA-DRB9	G	0.17
rs558597846	4e-11	EN1 - MARCO	G	3.21
rs189311388	3e-07	PTK2 - DENND3	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90473008	UK Biobank Whole-Genome Sequencing Consortium	2025	36,991	421,449	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90477009	Verma A	2024	9,208	425,892	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435509	Zhou W	2018	8,991	399,970	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90473011	UK Biobank Whole-Genome Sequencing Consortium	2025	8,055	450,385	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90477012	Verma A	2024	5,528	440,123	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90652033	Liu TY	2025	5,516	223,378	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90473014	UK Biobank Whole-Genome Sequencing Consortium	2025	5,205	453,235	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90477015	Verma A	2024	4,810	442,609	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90079539	Backman JD	2021	3,566	381,664	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083525	Backman JD	2021	3,566	381,664	Exome sequencing and analysis of 454,787 UK Biobank participants.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	3

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	0
rare (<0.01)	1
unknown	1

Functional consequences

Consequence	Count
intron_variant	2
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs9269041	6	32470466	G>A,C	0.358	intron_variant	HLA-DRB9	3e-15	Tier 4: intronic/intergenic
rs558597846	2	118901979	G>A,C	0.001	intergenic_variant	EN1 - MARCO	4e-11	Tier 4: intronic/intergenic
rs189311388	8	141095764	G>A,C		intron_variant	PTK2 - DENND3	3e-07	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 2.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01561248	Not specified	COMPLETED	Study of Repetitive Intestinal Lavage in Patients With EHEC Associated Hemorrhagic Colitis
NCT03161951	Not specified	COMPLETED	Differential Diagnostics of Etiology of Acute Infections