Trait: eosinophilic gastrointestinal disease

Trait Information
Identifier MONDO_0018438
Trait category
Other trait
Synonyms 2 synonyms
  • EGID
  • primary eosinophilic gastrointestinal disease
Child trait(s) eosinophilic esophagitis

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Note: This table shows PGS for child terms of "eosinophilic gastrointestinal disease" in the EFO hierarchy.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS012513
(eoe)
 PGP000785 |
Trimarchi MP et al. J Allergy Clin Immunol (2026)
 Eosinophilic esophagitis (EOE) eosinophilic esophagitis 1,039,900
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS012513/ScoringFiles/PGS012513.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM) 		Evaluated Score PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM030557 PGS012513
(eoe)
 PSS012193|
European Ancestry|
3,837 individuals
 PGP000785 |
Trimarchi MP et al. J Allergy Clin Immunol (2026)
 Reported Trait: EoE OR: 1.71 [1.52, 1.92] AUROC: 0.8 [0.78, 0.81] R²: 0.2 age, sex, 10 PCs —

Evaluated Samples

PGS Sample Set ID
(PSS) 		Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS012193 — —
[
  • 724 cases
  • , 3,113 controls
]
 — European — NR —