Trait: cardiovascular disease

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000319
Description A disease involving the cardiovascular system. [MONDO: DesignPattern]
Trait category
Cardiovascular disease
Synonyms 76 synonyms
  • Cardiovascular Disorders
  • Circulatory system disease NOS (disorder)
  • ASCVD
  • Other ill-defined heart diseases
  • Cardiovascular system disease
  • Other diseases of pericardium (disorder)
  • Other pericardial disease NOS (disorder)
  • disorder of cardiovascular system
  • cardiovascular system disease or disorder
  • Other heart disease (disorder)
  • Other heart disease NOS (disorder)
  • Cardiovascular disease, unspecified
  • PAPILLARY MUSCLE DIS NEC
  • Disorder of circulatory system
  • Disease affecting entire cardiovascular system (disorder)
  • Other diseases of pericardium
  • Other disorders of papillary muscle
  • Disorder of circulatory system, NOS
  • Cardiovascular Disease (CVD)
  • [X]Other specified diseases of pericardium (disorder)
  • Other ill-defined heart disease
  • disease of subdivision of hemolymphoid system
  • cardiovascular disease (CVD)
  • Disorder of cardiovascular system (disorder)
  • Disease of cardiovascular system (disorder)
  • Ill-defined descriptions and complications of heart disease
  • cardiovascular disorder
  • disease or disorder of cardiovascular system
  • Cardiovascular disorder, NOS
  • Other heart disease NOS
  • CVD
  • Other sequelae of myocardial infarction, not elsewhere classified
  • [X]Cardiovascular disease, unspecified (disorder)
  • Other pericardial disease NOS
  • Other forms of heart disease (disorder)
  • Other ill-defined heart disease NOS (disorder)
  • Other ill-defined heart disease NOS
  • Unspecified circulatory system disorder
  • PERICARDIAL DISEASE NEC
  • CARDIOVASC DIS
  • CIRCULATORY DISEASE NOS
  • Other specified diseases of pericardium
  • Cardiovascular Diseases
  • Other diseases of endocardium (disorder)
  • Certain sequelae of myocardial infarction, not elsewhere classified
  • [X]Other specified diseases of pericardium
  • DISEASES OF THE CIRCULATORY SYSTEM
  • [X]Cardiovascular disease, unspecified
  • [X]Other ill-defined heart diseases
  • [X]Other forms of heart disease (disorder)
  • Disease of cardiovascular system, NOS
  • Other heart disease
  • Other ill-defined heart disease (disorder)
  • Disorder of the circulatory system
  • [X]Other forms of heart disease
  • Other diseases of endocardium
  • Other forms of heart disease
  • [X]Other ill-defined heart diseases (disorder)
  • Cardiovascular Disorder
  • circulatory system disease
  • disease of cardiovascular system
  • Other specified pericardial disease NOS
  • CVS disease
  • cardiovascular disease
  • cardiovascular system disease
  • Other specified pericardial disease NOS (disorder)
  • Disorder of cardiovascular system
  • Diseases, Cardiovascular
  • CVD, NOS
  • Disease, Cardiovascular
  • Cardiovascular disease, NOS
  • ILL-DEFINED HRT DIS NEC
  • Disease of cardiovascular system
  • Disease affecting entire cardiovascular system
  • Circulatory system disease NOS
  • OTHER SEQUELAE OF MI NEC
Mapped term(s) 26 mapped terms
  • ICD9:429.8
  • ICD10:I98
  • ICD9:429.7
  • UMLS:C0007222
  • NCIT:C2931
  • ICD9:459.89
  • ICD9:423.8
  • ICD9:429.2
  • ICD10:I99
  • MONDO:0004995
  • ICD9:429.81
  • DOID:1287
  • SNOMEDCT:105980002
  • ICD10:I00.I99
  • ICD9:429.89
  • ICD9:420-429.99
  • ICD9:459.9
  • MESH:D002318
  • ICD9:429
  • SNOMEDCT:49601007
  • ICD9:424
  • ICD9:423
  • SCTID:49601007
  • NCIt:C2931
  • ICD9:390-459.99
  • MSH:D002318

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Number of Variants PGS Scoring File (FTP Link)
PGS000117 CVD_EJ2020 PGP000054
Elliott J et al. JAMA (2020)
Cardiovascular Disease 297,862 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000117/ScoringFiles/PGS000117.txt.gz

PGS 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 ID)
Evaluated Score PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000337 PGS000117 (CVD_EJ2020) PSS000195 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.71[0.71, 0.72] QRISK3
PPM000336 PGS000117 (CVD_EJ2020) PSS000187 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.77[0.76, 0.78] QRISK3
PPM000335 PGS000117 (CVD_EJ2020) PSS000191 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.7[0.7, 0.71] QRISK3
PPM000334 PGS000117 (CVD_EJ2020) PSS000203 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.75[0.75, 0.76] QRISK3
PPM000328 PGS000117 (CVD_EJ2020) PSS000200 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.74[0.73, 0.75] pooled cohort equations
PPM000327 PGS000117 (CVD_EJ2020) PSS000200 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.69[0.68, 0.7] age,sex
PPM000326 PGS000117 (CVD_EJ2020) PSS000200 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.56[0.55, 0.57]
PPM000324 PGS000117 (CVD_EJ2020) PSS000196 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.68[0.67, 0.68] age,sex
PPM000323 PGS000117 (CVD_EJ2020) PSS000196 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.57[0.56, 0.58]
PPM000322 PGS000117 (CVD_EJ2020) PSS000188 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.76[0.75, 0.78] pooled cohort equations
PPM000321 PGS000117 (CVD_EJ2020) PSS000188 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.7[0.69, 0.71] age,sex
PPM000320 PGS000117 (CVD_EJ2020) PSS000188 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.59[0.58, 0.61]
PPM000319 PGS000117 (CVD_EJ2020) PSS000192 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.71[0.7, 0.71] pooled cohort equations
PPM000318 PGS000117 (CVD_EJ2020) PSS000192 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.66[0.66, 0.67] age,sex
PPM000317 PGS000117 (CVD_EJ2020) PSS000192 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.56[0.56, 0.57]
PPM000316 PGS000117 (CVD_EJ2020) PSS000204 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.57[0.56, 0.57] pooled cohort equations
PPM000315 PGS000117 (CVD_EJ2020) PSS000204 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.57[0.56, 0.57] age,sex
PPM000314 PGS000117 (CVD_EJ2020) PSS000204 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.57[0.56, 0.57]
PPM000313 PGS000117 (CVD_EJ2020) PSS000198 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.74[0.73, 0.75] pooled cohort equations
PPM000312 PGS000117 (CVD_EJ2020) PSS000198 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.69[0.68, 0.7] age,sex
PPM000311 PGS000117 (CVD_EJ2020) PSS000198 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.56[0.55, 0.57]
PPM000310 PGS000117 (CVD_EJ2020) PSS000194 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.71[0.71, 0.72] pooled cohort equations
PPM000309 PGS000117 (CVD_EJ2020) PSS000194 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.67[0.66, 0.67] age,sex
PPM000308 PGS000117 (CVD_EJ2020) PSS000194 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.57[0.56, 0.57]
PPM000307 PGS000117 (CVD_EJ2020) PSS000186 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.77[0.76, 0.78] pooled cohort equations
PPM000306 PGS000117 (CVD_EJ2020) PSS000186 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.7[0.69, 0.71] age,sex
PPM000305 PGS000117 (CVD_EJ2020) PSS000186 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.59[0.58, 0.61]
PPM000304 PGS000117 (CVD_EJ2020) PSS000190 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.7[0.7, 0.71] pooled cohort equations
PPM000303 PGS000117 (CVD_EJ2020) PSS000190 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.66[0.65, 0.66] age,sex
PPM000302 PGS000117 (CVD_EJ2020) PSS000190 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.56[0.55, 0.56]
PPM000301 PGS000117 (CVD_EJ2020) PSS000202 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.75[0.75, 0.76] pooled cohort equations
PPM000300 PGS000117 (CVD_EJ2020) PSS000202 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.71[0.71, 0.72] age,sex
PPM000299 PGS000117 (CVD_EJ2020) PSS000202 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.56[0.56, 0.57]
PPM000338 PGS000117 (CVD_EJ2020) PSS000199 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.74[0.73, 0.75] QRISK3
PPM000325 PGS000117 (CVD_EJ2020) PSS000196 PGP000054
Elliott J et al. (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.72[0.72, 0.73] pooled cohort equations

Evaluated Samples

PGS Sample Set ID
(PSS ID)
Detailed Phenotype Description Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000186 Mean = 8.01 years
Sd = 1.04 years
[
  • 1,350 cases
  • , 146,635 controls
]
Other
(98.3% White European, 1.7% Black/Other)
UKB PCE Prospective Cohort. Lipid-lowering treatment performed
PSS000187 Mean = 8.01 years
Sd = 1.04 years
[
  • 2,826 cases
]
Other
(2,332 Africans, 145 Bangladeshi, 3,165 Carribeans, 1,136 Chinese, 3,790 Indians, 1,258 Other Asians, 1,182 Pakistani, 332,326 White Europeans and Unkown ancestry)
UKB QRISK3 Prospective Cohort/Testing Set. Lipid-lowering treatment performed
PSS000188 Mean = 8.01 years
Sd = 1.04 years
[
  • 1,149 cases
]
Other
(98.3% White European, 1.7% Black/Other)
UKB PCE Prospective Cohort. No baseline treatment
PSS000190 Mean = 8.01 years
Sd = 1.04 years
[
  • 4,922 cases
  • , 199,753 controls
]
Other
(98.3% White European, 1.7% Black/Other)
UKB PCE Prospective Cohort. Lipid-lowering treatment performed
PSS000191 Mean = 8.01 years
Sd = 1.04 years
[
  • 10,824 cases
]
Other
(2,332 Africans, 145 Bangladeshi, 3,165 Carribeans, 1,136 Chinese, 3,790 Indians, 1,258 Other Asians, 1,182 Pakistani, 332,326 White Europeans and Unkown ancestry)
UKB QRISK3 Prospective Cohort/Testing Set. Lipid-lowering treatment performed
PSS000192 Mean = 8.01 years
Sd = 1.04 years
[
  • 3,643 cases
]
Other
(98.3% White European, 1.7% Black/Other)
UKB PCE Prospective Cohort. No baseline treatment
PSS000194 Mean = 8.01 years
Sd = 1.04 years
[
  • 4,439 cases
  • , 142,870 controls
]
,
100.0 % Male samples
Other
(98.3% White European, 1.7% Black/Other)
UKB PCE Prospective Cohort. Lipid-lowering treatment performed
PSS000195 Mean = 8.01 years
Sd = 1.04 years
[
  • 8,536 cases
]
,
100.0 % Male samples
Other
(2,332 Africans, 145 Bangladeshi, 3,165 Carribeans, 1,136 Chinese, 3,790 Indians, 1,258 Other Asians, 1,182 Pakistani, 332,326 White Europeans and Unkown ancestry)
UKB QRISK3 Prospective Cohort/Testing Set. Lipid-lowering treatment performed
PSS000196 Mean = 8.01 years
Sd = 1.04 years
[
  • 3,381 cases
  • , 119,165 controls
]
,
100.0 % Male samples
Other
(98.3% White European, 1.7% Black/Other)
UKB PCE Prospective Cohort. No baseline treatment
PSS000198 Mean = 8.01 years
Sd = 1.04 years
[
  • 1,779 cases
  • , 203,518 controls
]
,
0.0 % Male samples
Other
(98.3% White European, 1.7% Black/Other)
UKB PCE Prospective Cohort. Lipid-lowering treatment performed
PSS000199 Mean = 8.01 years
Sd = 1.04 years
[
  • 5,114 cases
]
,
0.0 % Male samples
Other
(2,332 Africans, 145 Bangladeshi, 3,165 Carribeans, 1,136 Chinese, 3,790 Indians, 1,258 Other Asians, 1,182 Pakistani, 332,326 White Europeans and Unkown ancestry)
UKB QRISK3 Prospective Cohort/Testing Set. Lipid-lowering treatment performed
PSS000200 Mean = 8.01 years
Sd = 1.04 years
[
  • 1,411 cases
  • , 182,464 controls
]
,
0.0 % Male samples
Other
(98.3% White European, 1.7% Black/Other)
UKB PCE Prospective Cohort. No baseline treatment
PSS000202 Mean = 8.01 years
Sd = 1.04 years
[
  • 6,272 cases
  • , 346,388 controls
]
,
41.8 % Male samples
Mean = 55.9 years Other
(98.3% White European, 1.7% Black/Other)
UKB PCE Prospective Cohort. Lipid-lowering treatment performed
PSS000203 Mean = 8.01 years
Sd = 1.04 years
[
  • 13,648 cases
]
,
41.0 % Male samples
Other
(2,332 Africans, 145 Bangladeshi, 3,165 Carribeans, 1,136 Chinese, 3,790 Indians, 1,258 Other Asians, 1,182 Pakistani, 332,326 White Europeans and Unkown ancestry)
UKB QRISK3 Prospective Cohort/Testing Set. Lipid-lowering treatment performed
PSS000204 Mean = 8.01 years
Sd = 1.04 years
[
  • 4,792 cases
  • , 301,629 controls
]
Other
(98.3% White European, 1.7% Black/Other)
UKB PCE Prospective Cohort. No baseline treatment