Trait: esophageal carcinoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0002916
Description Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC). [Orphanet: 70482]
Trait categories
Digestive system disorder
Synonyms 5 synonyms
  • carcinoma of esophagus
  • carcinoma of oesophagus
  • carcinoma of the esophagus
  • esophageal carcinoma
  • esophagus carcinoma
Mapped terms 8 mapped terms
  • DOID:1107
  • EFO:0002916
  • MONDO:0019086
  • MedDRA:10030155
  • NCIT:C3513
  • Orphanet:70482
  • SCTID:372138000
  • UMLS:C0152018

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
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Multi-ancestry (excluding European)
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Additional Asian Ancestries
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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)
PGP000328 |
Choi J et al. Int J Cancer (2020)
Esophageal cancer esophageal carcinoma 14

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
PPM013027 PGS002298
European Ancestry|
406 individuals
PGP000328 |
Choi J et al. Int J Cancer (2020)
Reported Trait: Esophageal cancer AUROC: 0.53 [0.51, 0.56]

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
PSS009661 esophageal cancer (ICD-9 = 150 or ICD-10 = C15) 406 individuals European UKB