Trait: acute myeloid leukemia

Trait Information
Identifier MONDO_0018874
Description Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections. [Orphanet: 519]
Trait categories
Cancer
Immune system disorder
Other disease
Synonyms 31 synonyms
  • AML
  • AML - acute myeloid leukaemia
  • AML - acute myeloid leukemia
  • ANLL
  • acute Nonlymphocytic leukaemia
  • acute Nonlymphocytic leukemia
  • acute granulocytic leukaemia
  • acute granulocytic leukemia
  • acute myeloblastic leukemia
  • acute myelocytic leukaemia
  • acute myelocytic leukemia
  • acute myelogenous leukemia
  • acute myelogenous leukemias
  • acute myeloid leukaemia (AML)
  • acute myeloid leukemia
  • acute myeloid leukemia (AML)
  • acute myeloid leukemia, somatic
  • acute non lymphoblastic leukaemia
  • acute non lymphoblastic leukemia
  • acute nonlymphocytic leukaemia
  • acute nonlymphocytic leukemia
  • hematopoeitic - acute Myleogenous leukaemia (AML)
  • hematopoeitic - acute Myleogenous leukemia (AML)
  • leukemia, acute myeloid
  • leukemia, acute myeloid, autosomal dominant, somatic mutation
  • leukemia, acute myeloid, reduced survival in, somatic
  • leukemia, acute myeloid, somatic
  • leukemia, acute myeloid, susceptibility to, autosomal dominant, somatic mutation
  • leukemia, myelocytic, acute
  • myeloid leukemia, acute
  • myeloid leukemia, acute, M4/M4Eo subtype, somatic

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)
African
East Asian
South Asian
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)
PGS019962
(AML)
 PGP000850 |
Hu J et al. PLoS Genet (2026)
 Acute myeloid leukemia acute myeloid leukemia 1,083,494
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019962/ScoringFiles/PGS019962.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
PPM038168 PGS019962
(AML)
 PSS013856|
European Ancestry|
352,267 individuals
 PGP000850 |
Hu J et al. PLoS Genet (2026)
 Reported Trait: Acute Myeloid Leukemia OR: 1.03 [0.96, 1.1] AUROC: 0.51 [0.49, 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
PSS013856 — —
[
  • 798 cases
  • , 351,469 controls
]
 — European
(EUR)		 — UKB —