Trait: idiopathic pulmonary fibrosis

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000768
Description Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause. [Orphanet: 2032]
Trait category
Synonyms 14 synonyms
  • CFA
  • Hamman-rich disease
  • IPF
  • UIP
  • cryptogenic fibrosing alveolitis
  • familial idiopathic pulmonary fibrosis
  • fibrocystic pulmonary dysplasia
  • fibrosing alveolitis
  • fibrosing alveolitis, cryptogenic
  • idiopathic pulmonary fibrosis
  • idiopathic pulmonary fibrosis, familial
  • interstitial pneumonitis, usual
  • pulmonary fibrosis, idiopathic
  • usual interstitial pneumonia
Mapped terms 13 mapped terms
  • COHD:45763750
  • DOID:0050156
  • EFO:0000768
  • GARD:0008609
  • ICD10:J84.1
  • ICD10:J84.112
  • ICD9:516.31
  • MESH:D054990
  • MedDRA:10021240
  • NCIT:C35716
  • OMIM:178500
  • Orphanet:2032
  • SCTID:196125002

Associated Polygenic Score(s)

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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)
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 Scoring File (FTP Link)
PGP000262 |
Wang Y et al. Cell Genom (2023)
Idiopathic pulmonary fibrosis idiopathic pulmonary fibrosis 910,439

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
PPM009295 PGS001791
European Ancestry|
347,350 individuals
PGP000262 |
Wang Y et al. Cell Genom (2023)
Reported Trait: Idiopathic pulmonary fibrosis AUROC: 0.758 Nagelkerke's R2 (covariates regressed out): 0.00593 sex,age,age2,age*sex,age^2*sex, 20PCs

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
  • 1,052 cases
  • , 346,297 controls
European UKB