Trait: diffuse large B-cell lymphoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000403
Description Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common. [Orphanet: 544]
Trait categories
Immune system disorder
Synonyms 2 synonyms
  • diffuse large B-cell lymphoma
Mapped terms 12 mapped terms
  • DOID:0050745
  • EFO:0000403
  • GARD:0003178
  • ICD10:C83.3
  • ICD9:200.7
  • ICDO:9680/3
  • MESH:D016403
  • MONDO:0018905
  • MedDRA:10012818
  • NCIT:C8851
  • Orphanet:544
  • UMLS:C0079744

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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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)
Diffuse large B-cell lymphoma diffuse large B-cell lymphoma 9

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
PPM013032 PGS002303
European Ancestry|
308 individuals
PGP000328 |
Choi J et al. Int J Cancer (2020)
Reported Trait: Diffuse large B-cell lymphoma AUROC: 0.56 [0.53, 0.6]
PPM013040 PGS002303
European Ancestry|
308 individuals
PGP000328 |
Choi J et al. Int J Cancer (2020)
Reported Trait: Diffuse large B-cell lymphoma Hazard ratio (HR top 5% vs average): 1.6 [1.01, 2.54] Age, birth cohort, genotyping array, top 10 PCs for ancestry and sex (for nonsex specific cancer only)

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
PSS009657 diffuse large B-cell lymphoma (ICD-10 = C83.3) 308 individuals European UKB