Peptic esophagitis

Summary

Peptic esophagitis (MONDO:0006896) is a disease with 1 GWAS associations across 7 studies and 2 clinical trials. A subtype of esophagitis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 1
• Clinical trials: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	peptic esophagitis
Mondo ID	MONDO:0006896
EFO	EFO:1001095
MeSH	D004942
DOID	DOID:13976
SNOMED CT	57643001
UMLS	C0014869
MedGen	5028
Is cancer (heuristic)	no

Data availability: 1 GWAS association (7 studies).

Disease family

This is a subtype of esophagitis. 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 › upper digestive tract disorder › esophageal disorder › esophagitis › peptic esophagitis

Related subtypes (5): fungal esophagitis, bacterial esophagitis, viral esophagitis, eosinophilic esophagitis, Crohn disease of the esophagus

Genetics & variants

GWAS landscape

1 GWAS associations across 7 studies. Top hits map to 0 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs2895923	3e-08	RNU6-679P - LINC01194	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90651613	Liu TY	2025	16,704	195,643	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90478325	Verma A	2024	15,549	417,617	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436304	Zhou W	2018	10,551	369,275	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90478324	Verma A	2024	3,287	114,352	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480849	Verma A	2024	3,287	114,352	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90478323	Verma A	2024	1,882	55,797	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST011585	Jin EH	2020	493	1,777	A Novel Susceptibility Locus Near GRIK2 Associated With Erosive Esophagitis in a Korean Cohort.

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	1

MAF distribution

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

Functional consequences

Consequence	Count
intron_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs2895923	5	12383889	G>A,T	0.05	intron_variant	RNU6-679P - LINC01194	3e-08	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

Drugs indicated or in trials for this disease

No drug has an approved disease-direct ChEMBL indication for this disease.

6 drugs in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.

Drug	Highest phase
Abeprazan	Phase 3
Dexlansoprazole	Phase 3
Esomeprazole	Phase 3
Lansoprazole	Phase 3
Omeprazole	Phase 3
Lanreotide	Phase 2

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
NCT00920400	Not specified	COMPLETED	Diagnostic Value of Fecal Calprotectin in Disorders of the Upper Gastrointestinal Tract
NCT04501627	Not specified	COMPLETED	A Study on Vonoprazan in the Real-world Clinical Practice in China