Trait: chronic myeloid leukemia

Trait Information
Identifier MONDO_0011996
Description A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival. [NCIT: C3174]
Trait categories
Cancer
Immune system disorder
Other disease
Synonyms 18 synonyms
  • BCR-ABL Positive chronic myelogenous leukaemia
  • BCR-ABL Positive chronic myelogenous leukemia
  • CML
  • CML - chronic myelogenous leukaemia
  • CML - chronic myelogenous leukemia
  • chronic granulocytic leukemia
  • chronic myelocytic leukaemia
  • chronic myelocytic leukemia
  • chronic myelogenous leukaemia (CML)
  • chronic myelogenous leukemia
  • chronic myelogenous leukemia (CML)
  • chronic myelogenous leukemia, BCR-ABL1 Positive
  • chronic myelogenous leukemias
  • chronic myeloid leukemia
  • hematopoeitic - chronic myelocytic leukaemia (CML)
  • hematopoeitic - chronic myelocytic leukemia (CML)
  • leukimia, chronic myeloid
  • myeloid leukemia, chronic

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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Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
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Additional Asian Ancestries
European
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
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS019968
(CML)
 PGP000850 |
Hu J et al. PLoS Genet (2026)
 Chronic myeloid leukemia chronic myeloid leukemia 1,083,473
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019968/ScoringFiles/PGS019968.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
PPM038174 PGS019968
(CML)
 PSS013861|
European Ancestry|
351,791 individuals
 PGP000850 |
Hu J et al. PLoS Genet (2026)
 Reported Trait: Chronic Myeloid Leukemia OR: 1.0 [0.9, 1.12] AUROC: 0.5 [0.47, 0.53] — — —

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
PSS013861 — —
[
  • 322 cases
  • , 351,469 controls
]
 — European
(EUR)		 — UKB —