Trait: heart failure

Experimental Factor Ontology (EFO) Information
Identifier EFO_0003144
Description Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction. [EFO: 0003144]
Trait category
Cardiovascular disease
Synonyms 11 synonyms
  • Heart failure (disorder)
  • Heart failure NOS
  • Heart failure NOS (disorder)
  • Heart failure, unspecified
  • Heart: [weak] or [failure NOS]
  • Weak heart
  • cardiac failure
  • cardiac insufficiency
  • failure, heart
  • heart failure
  • insufficiency, Cardiac
Mapped term(s) 12 mapped terms
  • COHD:316139
  • ICD10:I50
  • ICD9:428
  • ICD9:428.9
  • MESH:D006333
  • MONDO:0005252
  • MeSH:D006333
  • NCIT:C50577
  • NCIt:C50577
  • SCTID:84114007
  • SNOMEDCT:84114007
  • UMLS:CN236639

Associated Polygenic Score(s)

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G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution PGS Scoring File (FTP Link)
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Heart failure heart failure 183,287
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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
PPM001601 PGS000709
European Ancestry|
87,413 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Heart failure AUROC: 0.53217 Age, sex, PCs(1-10)
PPM001614 PGS000709
European Ancestry|
135,300 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Heart failure HR: 1.08 [1.06, 1.1] C-index: 0.635 Age as time scale, sex, batch, PCs(1-10)

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
PSS000820 87,413 individuals European UKB
PSS000821 ICD-10 I50, I11.0, I13.0
  • 13,965 cases
  • , 121,335 controls