Trait: inflammatory bowel disease

Experimental Factor Ontology (EFO) Information
Identifier EFO_0003767
Description A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. [NCIT: C3138]
Trait category
Digestive system disorder
Immune system disorder
Synonyms 6 synonyms
  • Bowel Diseases, Inflammatory
  • IBD
  • Inflammatory Bowel Diseases
  • autoimmune bowel disorder
  • inflammatory bowel disease
Mapped term(s) 19 mapped terms
  • DOID:0050589
  • ICD9:558.9
  • KEGG:05321
  • MESH:D015212
  • MONDO:0005265
  • MeSH:D015212
  • NCIT:C3138
  • NCIt:C3138
  • OMIM:608448
  • OMIM:611081
  • OMIM:612244
  • OMIM:612245
  • OMIM:612261
  • OMIM:612278
  • OMIM:618077
  • OMIMPS:266600
  • SCTID:24526004
  • SNOMEDCT:24526004
  • UMLS:C0021390

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:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
East Asian
South Asian
Additional Asian Ancestries
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution PGS Scoring File (FTP Link)
PGP000006 |
Khera AV et al. Nat Genet (2018)
Inflammatory bowel disease inflammatory bowel disease 6,907,112 - Check Terms/Licenses

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
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM000026 PGS000017
European Ancestry|
288,978 individuals
PGP000006 |
Khera AV et al. Nat Genet (2018)
Reported Trait: Inflammatory bowel disease AUROC: 0.63 [0.62, 0.64] Nagelkerke’s R2 (estimate of variance explained by the PGS after covariate adjustment): 0.021 age; sex; Ancestry PC 1-4; genotyping chip

Evaluated Samples

PGS Sample Set ID
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
PSS000016 Inflammatory bowel disease ascertainment was based on report in an interview with a trained nurse, or an ICD-9 code of 555.X or ICD-10 code of K51.X in hospitalization records.
  • 5,853 cases
  • , 283,125 controls
European UKB UKB Phase 2