Trait: chronic pulmonary heart disease

Trait Information
Identifier MONDO_0001493
Description Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure. [NCIT: C34478]
Trait category
Other trait
Synonym Cor pulmonale

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)
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
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 —
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 —
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 —
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 —
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 —
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 —
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 —