Trait: dilated cardiomyopathy

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000407
Description Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure. [NCIT: P378]
Trait category
Cardiovascular disease
Synonyms 29 synonyms
  • CCM - Congestive cardiomyopathy
  • COCM - Congestive cardiomyopathy
  • Cardiomyopathies, Congestive
  • Cardiomyopathies, Dilated
  • Cardiomyopathies, Familial Idiopathic
  • Cardiomyopathy, Congestive
  • Cardiomyopathy, Dilated
  • Cardiomyopathy, Dilated, CMD1A
  • Cardiomyopathy, Dilated, LMNA
  • Cardiomyopathy, Dilated, with Conduction Deffect1
  • Cardiomyopathy, Familial Idiopathic
  • Congestive Cardiomyopathies
  • Congestive cardiomyopathy
  • Congestive cardiomyopathy (disorder)
  • Congestive dilated cardiomyopathy
  • DCM
  • DCM - Dilated cardiomyopathy
  • Dilated Cardiomyopathies
  • Familial Idiopathic Cardiomyopathies
  • Familial Idiopathic Cardiomyopathy
  • Idiopathic Cardiomyopathies, Familial
  • Idiopathic Cardiomyopathy, Familial
  • Primary dilated cardiomyopathy
  • congestive cardiomyopathy
  • dilated cardiomyopathy
  • familial dilated cardiomyopathy
  • idiopathic dilation cardiomyopathy
  • primary dilated cardiomyopathy
  • primary dilated cardiomyopathy (disorder)
Mapped terms 20 mapped terms
  • DOID:12930
  • GARD:221
  • HP:0001644
  • ICD10CM:I42.0
  • ICD9:425.4
  • MESH:D002311
  • MONDO:0005021
  • MP:0002795
  • MeSH:D002311
  • MedDRA:10056370
  • MedDRA:10056419
  • NCIT:C84673
  • NCIt:C84673
  • OMIM:115200
  • OMIM:615916
  • OMIM:618189
  • Orphanet:217604
  • SCTID:195021004
  • SNOMEDCT:399020009
  • UMLS:C0007193

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)
PGS004861
(hermes.gwama)
 PGP000608 |
Zheng SL et al. medRxiv (2023)
|Pre		 Dilated cardiomyopathy dilated cardiomyopathy 713,932
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004861/ScoringFiles/PGS004861.txt.gz
PGS004862
(hermes.mtag)
 PGP000608 |
Zheng SL et al. medRxiv (2023)
|Pre		 Dilated cardiomyopathy (MTAG) dilated cardiomyopathy 709,534
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004862/ScoringFiles/PGS004862.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
PPM021092 PGS004861
(hermes.gwama)
 PSS011521|
European Ancestry|
347,585 individuals
 PGP000608 |
Zheng SL et al. medRxiv (2023)
|Pre		 Reported Trait: Dilated cardiomyopathy OR: 1.56 AUROC: 0.7 R²: 0.048 age, age^2, sex, PC1-10 —
PPM021093 PGS004862
(hermes.mtag)
 PSS011521|
European Ancestry|
347,585 individuals
 PGP000608 |
Zheng SL et al. medRxiv (2023)
|Pre		 Reported Trait: Dilated cardiomyopathy OR: 1.76 AUROC: 0.71 R²: 0.05 age, age^2, sex, PC1-10 —

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
PSS011521 — —
[
  • 755 cases
  • , 346,830 controls
]
,
45.8 % Male samples
 Mean = 69.8 years European — UKB —