Trait: penile disorder

Trait Information
Identifier MONDO_0002036
Description A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma. [NCIT: P378]
Trait category
Other trait
Synonyms 7 synonyms
  • disease of penis
  • disease or disorder of penis
  • disorder of penis
  • penile disease
  • penile disorder
  • penis disease
  • penis disease or disorder

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)
PGS019527
(TPMI_604_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Disorders of penis penile disorder 56,123
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019527/ScoringFiles/PGS019527.txt.gz
PGS019528
(TPMI_604_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Disorders of penis penile disorder 322,262
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019528/ScoringFiles/PGS019528.txt.gz
PGS019529
(TPMI_604_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Disorders of penis penile disorder 584,567
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019529/ScoringFiles/PGS019529.txt.gz
PGS019530
(TPMI_604_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Disorders of penis penile disorder 983,731
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019530/ScoringFiles/PGS019530.txt.gz
PGS019531
(TPMI_604_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Disorders of penis penile disorder 986,862
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019531/ScoringFiles/PGS019531.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
PPM037709 PGS019527
(TPMI_604_Lassosum2)
 PSS013430|
East Asian Ancestry|
6,857 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Disorders of penis — AUROC: 0.59378 R²: 0.01796 sex, age, array, PCs 1-10 —
PPM037710 PGS019528
(TPMI_604_LDpred2)
 PSS013429|
East Asian Ancestry|
6,857 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Disorders of penis — AUROC: 0.59651 R²: 0.01855 sex, age, array, PCs 1-10 —
PPM037711 PGS019529
(TPMI_604_MegaPRS)
 PSS013431|
East Asian Ancestry|
6,857 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Disorders of penis — AUROC: 0.60298 R²: 0.01938 sex, age, array, PCs 1-10 —
PPM037712 PGS019530
(TPMI_604_PRS-CS)
 PSS013432|
East Asian Ancestry|
6,857 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Disorders of penis — AUROC: 0.59455 R²: 0.01796 sex, age, array, PCs 1-10 —
PPM037713 PGS019531
(TPMI_604_SBayesR)
 PSS013433|
East Asian Ancestry|
6,857 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Disorders of penis — AUROC: 0.59085 R²: 0.01746 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
PSS013429 605, 607,N47.0, N47.1, N47.2, N47.3, N47.4, N47.5, N47.7, N47.8, N48.0, N48.3, N48.5, N48.6, N48.8, N48.9 —
[
  • 269 cases
  • , 6,588 controls
]
,
100.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013430 605, 607,N47.0, N47.1, N47.2, N47.3, N47.4, N47.5, N47.7, N47.8, N48.0, N48.3, N48.5, N48.6, N48.8, N48.9 —
[
  • 269 cases
  • , 6,588 controls
]
,
100.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013431 605, 607,N47.0, N47.1, N47.2, N47.3, N47.4, N47.5, N47.7, N47.8, N48.0, N48.3, N48.5, N48.6, N48.8, N48.9 —
[
  • 269 cases
  • , 6,588 controls
]
,
100.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013432 605, 607,N47.0, N47.1, N47.2, N47.3, N47.4, N47.5, N47.7, N47.8, N48.0, N48.3, N48.5, N48.6, N48.8, N48.9 —
[
  • 269 cases
  • , 6,588 controls
]
,
100.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013433 605, 607,N47.0, N47.1, N47.2, N47.3, N47.4, N47.5, N47.7, N47.8, N48.0, N48.3, N48.5, N48.6, N48.8, N48.9 —
[
  • 269 cases
  • , 6,588 controls
]
,
100.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —