Trait: cor pulmonale

Trait Information
Identifier MONDO_0004596
Description Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism. [MESH: D011660]
Trait category
Other trait
Synonyms 7 synonyms
  • cor pulmonale
  • disease, pulmonary heart
  • diseases, pulmonary heart
  • heart disease, pulmonary
  • heart diseases, pulmonary
  • pulmonary heart disease
  • pulmonary heart diseases
Mapped terms 7 mapped terms
  • DOID:8515
  • ICD10CM:I27.81
  • MEDGEN:18765
  • MESH:D011660
  • SCTID:274096000
  • UMLS:C0034072
  • icd11.foundation:738218522
Child trait(s) chronic pulmonary heart disease

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
Note: This table shows all PGS for "cor pulmonale" and any child terms of this trait in the EFO hierarchy by default.
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)
PGS001840
(portability-PLR_415)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Pulmonary heart disease cor pulmonale 330
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001840/ScoringFiles/PGS001840.txt.gz
PGS002049
(portability-ldpred2_415)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Pulmonary heart disease cor pulmonale 222,371
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002049/ScoringFiles/PGS002049.txt.gz
PGS019170
(TPMI_411.8_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other chronic ischemic heart disease unspecified chronic pulmonary heart disease 36,363
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019170/ScoringFiles/PGS019170.txt.gz
PGS019171
(TPMI_411.8_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other chronic ischemic heart disease unspecified chronic pulmonary heart disease 939,887
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019171/ScoringFiles/PGS019171.txt.gz
PGS019172
(TPMI_411.8_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other chronic ischemic heart disease unspecified chronic pulmonary heart disease 36,574
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019172/ScoringFiles/PGS019172.txt.gz
PGS019173
(TPMI_411.8_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other chronic ischemic heart disease unspecified chronic pulmonary heart disease 983,825
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019173/ScoringFiles/PGS019173.txt.gz
PGS019174
(TPMI_411.8_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other chronic ischemic heart disease unspecified chronic pulmonary heart disease 935,962
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019174/ScoringFiles/PGS019174.txt.gz
PGS019175
(TPMI_414_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other forms of chronic heart disease chronic pulmonary heart disease 583,608
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019175/ScoringFiles/PGS019175.txt.gz
PGS019176
(TPMI_414_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other forms of chronic heart disease chronic pulmonary heart disease 939,813
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019176/ScoringFiles/PGS019176.txt.gz
PGS019177
(TPMI_414_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other forms of chronic heart disease chronic pulmonary heart disease 189,507
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019177/ScoringFiles/PGS019177.txt.gz
PGS019178
(TPMI_414_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other forms of chronic heart disease chronic pulmonary heart disease 983,765
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019178/ScoringFiles/PGS019178.txt.gz
PGS019179
(TPMI_414_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other forms of chronic heart disease chronic pulmonary heart disease 1,024,278
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019179/ScoringFiles/PGS019179.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
PPM009610 PGS001840
(portability-PLR_415)
 PSS009312|
European Ancestry|
19,808 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0355 [0.0216, 0.0494] sex, age, birth date, deprivation index, 16 PCs —
PPM009611 PGS001840
(portability-PLR_415)
 PSS009086|
European Ancestry|
4,113 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0647 [0.0341, 0.0952] sex, age, birth date, deprivation index, 16 PCs —
PPM009612 PGS001840
(portability-PLR_415)
 PSS008640|
European Ancestry|
6,617 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.038 [0.0139, 0.0621] sex, age, birth date, deprivation index, 16 PCs —
PPM009613 PGS001840
(portability-PLR_415)
 PSS008414|
Greater Middle Eastern Ancestry|
1,190 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): -0.0071 [-0.0643, 0.0503] sex, age, birth date, deprivation index, 16 PCs —
PPM009614 PGS001840
(portability-PLR_415)
 PSS008194|
South Asian Ancestry|
6,283 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.03 [0.0052, 0.0547] sex, age, birth date, deprivation index, 16 PCs —
PPM009615 PGS001840
(portability-PLR_415)
 PSS007976|
East Asian Ancestry|
1,805 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0109 [-0.0355, 0.0572] sex, age, birth date, deprivation index, 16 PCs —
PPM009616 PGS001840
(portability-PLR_415)
 PSS007759|
African Ancestry|
2,457 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0171 [-0.0226, 0.0568] sex, age, birth date, deprivation index, 16 PCs —
PPM009617 PGS001840
(portability-PLR_415)
 PSS008863|
African Ancestry|
3,858 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0366 [0.005, 0.0682] sex, age, birth date, deprivation index, 16 PCs —
PPM011254 PGS002049
(portability-ldpred2_415)
 PSS009312|
European Ancestry|
19,808 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0397 [0.0258, 0.0536] sex, age, birth date, deprivation index, 16 PCs —
PPM011255 PGS002049
(portability-ldpred2_415)
 PSS009086|
European Ancestry|
4,113 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0663 [0.0357, 0.0967] sex, age, birth date, deprivation index, 16 PCs —
PPM011256 PGS002049
(portability-ldpred2_415)
 PSS008640|
European Ancestry|
6,617 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0336 [0.0095, 0.0577] sex, age, birth date, deprivation index, 16 PCs —
PPM011257 PGS002049
(portability-ldpred2_415)
 PSS008414|
Greater Middle Eastern Ancestry|
1,190 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): -0.0019 [-0.0592, 0.0554] sex, age, birth date, deprivation index, 16 PCs —
PPM011258 PGS002049
(portability-ldpred2_415)
 PSS008194|
South Asian Ancestry|
6,283 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0331 [0.0083, 0.0578] sex, age, birth date, deprivation index, 16 PCs —
PPM011259 PGS002049
(portability-ldpred2_415)
 PSS007976|
East Asian Ancestry|
1,805 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0075 [-0.0389, 0.0539] sex, age, birth date, deprivation index, 16 PCs —
PPM011260 PGS002049
(portability-ldpred2_415)
 PSS007759|
African Ancestry|
2,457 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.014 [-0.0257, 0.0537] sex, age, birth date, deprivation index, 16 PCs —
PPM011261 PGS002049
(portability-ldpred2_415)
 PSS008863|
African Ancestry|
3,858 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0322 sex, age, birth date, deprivation index, 16 PCs —
PPM037352 PGS019170
(TPMI_411.8_Lassosum2)
 PSS013068|
East Asian Ancestry|
18,717 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other chronic ischemic heart disease unspecified — AUROC: 0.64399 R²: 0.05893 sex, age, array, PCs 1-10 —
PPM037353 PGS019171
(TPMI_411.8_LDpred2)
 PSS013067|
East Asian Ancestry|
18,717 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other chronic ischemic heart disease unspecified — AUROC: 0.6462 R²: 0.06032 sex, age, array, PCs 1-10 —
PPM037354 PGS019172
(TPMI_411.8_MegaPRS)
 PSS013069|
East Asian Ancestry|
18,717 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other chronic ischemic heart disease unspecified — AUROC: 0.64462 R²: 0.05974 sex, age, array, PCs 1-10 —
PPM037355 PGS019173
(TPMI_411.8_PRS-CS)
 PSS013070|
East Asian Ancestry|
18,717 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other chronic ischemic heart disease unspecified — AUROC: 0.64634 R²: 0.06059 sex, age, array, PCs 1-10 —
PPM037356 PGS019174
(TPMI_411.8_SBayesR)
 PSS013071|
East Asian Ancestry|
18,717 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other chronic ischemic heart disease unspecified — AUROC: 0.64553 R²: 0.05976 sex, age, array, PCs 1-10 —
PPM037357 PGS019175
(TPMI_414_Lassosum2)
 PSS013083|
East Asian Ancestry|
17,594 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other forms of chronic heart disease — AUROC: 0.66792 R²: 0.06004 sex, age, array, PCs 1-10 —
PPM037358 PGS019176
(TPMI_414_LDpred2)
 PSS013082|
East Asian Ancestry|
17,594 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other forms of chronic heart disease — AUROC: 0.66784 R²: 0.05974 sex, age, array, PCs 1-10 —
PPM037359 PGS019177
(TPMI_414_MegaPRS)
 PSS013084|
East Asian Ancestry|
17,594 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other forms of chronic heart disease — AUROC: 0.66895 R²: 0.06063 sex, age, array, PCs 1-10 —
PPM037360 PGS019178
(TPMI_414_PRS-CS)
 PSS013085|
East Asian Ancestry|
17,594 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other forms of chronic heart disease — AUROC: 0.66862 R²: 0.06079 sex, age, array, PCs 1-10 —
PPM037361 PGS019179
(TPMI_414_SBayesR)
 PSS013086|
East Asian Ancestry|
17,594 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other forms of chronic heart disease — AUROC: 0.66786 R²: 0.05991 sex, age, array, PCs 1-10 —

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
PSS013085 429,B33.2, I23.4, I23.5, I51.1, I51.2, I51.5, I51.8, I51.9, I52 —
[
  • 964 cases
  • , 16,630 controls
]
,
44.23 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013083 429,B33.2, I23.4, I23.5, I51.1, I51.2, I51.5, I51.8, I51.9, I52 —
[
  • 964 cases
  • , 16,630 controls
]
,
44.23 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013086 429,B33.2, I23.4, I23.5, I51.1, I51.2, I51.5, I51.8, I51.9, I52 —
[
  • 964 cases
  • , 16,630 controls
]
,
44.23 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS007976 — — 1,805 individuals — East Asian China (East Asia) UKB —
PSS008414 — — 1,190 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS007759 — — 2,457 individuals — African American or Afro-Caribbean Carribean UKB —
PSS013067 414,I25 —
[
  • 2,087 cases
  • , 16,630 controls
]
,
45.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013068 414,I25 —
[
  • 2,087 cases
  • , 16,630 controls
]
,
45.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013069 414,I25 —
[
  • 2,087 cases
  • , 16,630 controls
]
,
45.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS009312 — — 19,808 individuals — European UK (+ Ireland) UKB —
PSS013070 414,I25 —
[
  • 2,087 cases
  • , 16,630 controls
]
,
45.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013071 414,I25 —
[
  • 2,087 cases
  • , 16,630 controls
]
,
45.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS009086 — — 4,113 individuals — European Poland (NE Europe) UKB —
PSS008863 — — 3,858 individuals — African unspecified Nigeria (West Africa) UKB —
PSS008640 — — 6,617 individuals — European Italy (South Europe) UKB —
PSS013082 429,B33.2, I23.4, I23.5, I51.1, I51.2, I51.5, I51.8, I51.9, I52 —
[
  • 964 cases
  • , 16,630 controls
]
,
44.23 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS008194 — — 6,283 individuals — South Asian India (South Asia) UKB —
PSS013084 429,B33.2, I23.4, I23.5, I51.1, I51.2, I51.5, I51.8, I51.9, I52 —
[
  • 964 cases
  • , 16,630 controls
]
,
44.23 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —