Stomach disorder

Summary

Stomach disorder (MONDO:0004298) is a disease (an umbrella term covering 19 Mondo subtypes) with 10 GWAS associations across 24 studies and 18 clinical trials. Top therapeutic interventions include capecitabine, simethicone, and rivoceranib. A subtype of digestive system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 19 Mondo subtypes
• GWAS associations: 10
• Clinical trials: 18

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	stomach disorder
Mondo ID	MONDO:0004298
EFO	EFO:0009608
MeSH	D013272
DOID	DOID:76
ICD-11	1264914040
NCIT	C26886
SNOMED CT	29384001
UMLS	C0038354
MedGen	21329
Anatomy (UBERON)	UBERON:0000945
Is cancer (heuristic)	no

Also known as: disease of stomach · disease or disorder of stomach · disorder of stomach · stomach disease · stomach disease or disorder · stomach disorder

Data availability: 10 GWAS associations (24 studies).

Disease family

This is a subtype of digestive system disorder. 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 › stomach disorder

Related subtypes (30): benign digestive system neoplasm, autoimmune disorder of gastrointestinal tract, gastrointestinal mucositis, diarrheal disease, pancreas disorder, hepatobiliary disorder, digestive system cancer, peptic ulcer disease, intestinal disorder, Meckel diverticulum, Cronkhite-Canada syndrome, diverticulosis, small-intestinal, diverticulosis of bowel, hernia, and retinal detachment, congenital enteropathy due to enteropeptidase deficiency, hereditary mixed polyposis syndrome, caudal duplication, Moyamoya disease with early-onset achalasia, hyperplastic polyposis syndrome, thoraco-abdominal enteric duplication, digestive duplication, juvenile polyposis syndrome, umbilical cord ulceration-intestinal atresia syndrome, growth retardation-mild developmental delay-chronic hepatitis syndrome, common mesentery, neoplasm of oropharynx, gastrointestinal polyp, digestive system neuroendocrine neoplasm, digestive system infectious disorder, upper digestive tract disorder, congenital peritoneal encapsulation

Subtypes (19): gastric ulcer, functional gastric disease, Dieulafoy lesion, pylorospasm, cascade stomach, pyloric stenosis, gastric dilatation, stomach diverticulosis, gastritis, gastroesophageal reflux disease, hiatus hernia, stomach polyp, non-hypoproteinemic hypertrophic gastropathy, gastric neoplasm, angiodysplasia of stomach, achlorhydria, gastric intestinal metaplasia, gastric duplication, pyloric duplication

Genetics & variants

GWAS landscape

10 GWAS associations across 24 studies. Top hits map to 9 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs541703796	2e-12	ATXN1-AS1	C	2.56
rs376777359	9e-12	SH2D5	C	2.79
rs373440672	1e-11	SNRPA	C	2.9
rs147739576	2e-11	PRR16	A	3.58
rs572678504	2e-11	SDK1	G	2.98
rs188396304	2e-11	TRPM3	A	1.99
rs531370934	3e-11	MTCL1 - RPS4XP19	C	3.43
rs529051784	4e-11	PTPRN2	G	3.18
rs112389065	4e-07	SORCS2	?
rs184388805	6e-07	PTPN4	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90078828	Backman JD	2021	32,677	109,193	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90082814	Backman JD	2021	32,677	109,193	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90080213	Backman JD	2021	10,072	377,247	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084199	Backman JD	2021	10,072	377,247	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90478366	Verma A	2024	8,936	425,964	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90038620	Donertas HM	2021	5,454	479,144	Common genetic associations between age-related diseases.
GCST90652139	Liu TY	2025	4,616	197,546	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90652186	Liu TY	2025	4,541	197,546	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90478365	Verma A	2024	3,324	112,802	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480850	Verma A	2024	3,324	112,802	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

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	1
Tier 4: intronic/intergenic	9

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	0
rare (<0.01)	8
unknown	1

Functional consequences

Consequence	Count
intron_variant	8
regulatory_region_variant	1
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs541703796	6	16761550	C>A	0.001	regulatory_region_variant	ATXN1-AS1	2e-12	Tier 3: regulatory
rs376777359	1	20724375	C>T	0	intron_variant	SH2D5	9e-12	Tier 4: intronic/intergenic
rs373440672	19	40759129	C>G,T	0	intron_variant	SNRPA	1e-11	Tier 4: intronic/intergenic
rs147739576	5	120573108	A>T	0.001	intron_variant	PRR16	2e-11	Tier 4: intronic/intergenic
rs572678504	7	3582865	G>A	0	intron_variant	SDK1	2e-11	Tier 4: intronic/intergenic
rs188396304	9	71350350	A>G	0.001	intron_variant	TRPM3	2e-11	Tier 4: intronic/intergenic
rs531370934	18	8897093	C>G,T	0	intergenic_variant	MTCL1 - RPS4XP19	3e-11	Tier 4: intronic/intergenic
rs529051784	7	158175602	G>A	0.001	intron_variant	PTPRN2	4e-11	Tier 4: intronic/intergenic
rs112389065	4	7362777	C>T	0.05	intron_variant	SORCS2	4e-07	Tier 4: intronic/intergenic
rs184388805	2	119869988	T>C,G		intron_variant	PTPN4	6e-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: 18.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	10
PHASE2	4
PHASE4	2
PHASE3	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01888237	PHASE4	COMPLETED	High Dose PPI Triple Therapy Versus Sequential Therapy for Helicobacter Pylori Eradication
NCT02476097	PHASE4	UNKNOWN	PROGRESSive Withdrawal Esomeprazole and Acid-related Symptoms
NCT00745459	PHASE3	COMPLETED	Phase III General Clinical Study of NPO-11 in Patients Undergoing Gastric Endoscopy
NCT03889626	PHASE3	UNKNOWN	The Maintenance Treatment of Apatinib/Capecitabine Versus Observation in Advanced Gastric Cancer
NCT05602935	PHASE2	ACTIVE_NOT_RECRUITING	Efficacy and Safety of SOX Regimen Combined With Camrelizumab as Neoadjuvant Treatment in Locally Advanced Gastric Cancer: a Phase II, Single-arm Study
NCT01576380	PHASE2	COMPLETED	A Phase II Study to Evaluate Efficacy and Safety of Dovitinib (TKI258) in Advanced Scirrhous Gastric Carcinoma Patients
NCT02846155	PHASE2	UNKNOWN	Gastric Preparation of Magnetic-controlled Capsule Endoscopy
NCT03549494	PHASE2	COMPLETED	Evaluation of Ocoxin®-Viusid® in Advanced Stomach Cancer and Gastric Esophagogastric Junction
NCT06719466	Not specified	ACTIVE_NOT_RECRUITING	Diet Intervention on Obesity Related Complication
NCT00128284	Not specified	COMPLETED	A Comparison of SmartPill Capsule With Scintigraphy for Determining Gastric Residence Time
NCT00577772	Not specified	TERMINATED	Transit Time and Bacterial Overgrowth Using SmartPill Capsule
NCT00682877	Not specified	COMPLETED	A Comparison of SmartPill Capsule With Scintigraphy for Determining Gastric Residence Time - Over 65 Years Old
NCT00977678	Not specified	COMPLETED	Drop in Gastroscopy - Experience After 9 Months
NCT01249859	Not specified	COMPLETED	Prognosis of Signet Ring Cells in Upper Digestive Neoplasms
NCT01420588	Not specified	COMPLETED	Diagnosis of Gastric Lesions From Exhaled Breath and Saliva
NCT01741363	Not specified	COMPLETED	Screening for Stomach Diseases and Colorectal Neoplasms With the Fecal Testing
NCT03514966	Not specified	COMPLETED	Repetitive Position Change Improves Gastric Cleanliness for MCE
NCT05069233	Not specified	UNKNOWN	Magnetically Controlled Capsule Endoscopy in Visualization of the UGI and Small Intestine

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CAPECITABINE	4	1
SIMETHICONE	4	1
RIVOCERANIB	3	2