Trait: inborn disorder of purine or pyrimidine metabolism

Trait Information
Identifier MONDO_0019254
Trait category
Other trait
Synonym inborn purine-pyrimidine metabolic 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)
PGS018839
(TPMI_277.2_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other disorders of purine and pyrimidine metabolism inborn disorder of purine or pyrimidine metabolism 89
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018839/ScoringFiles/PGS018839.txt.gz
PGS018840
(TPMI_277.2_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other disorders of purine and pyrimidine metabolism inborn disorder of purine or pyrimidine metabolism 300,267
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018840/ScoringFiles/PGS018840.txt.gz
PGS018841
(TPMI_277.2_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other disorders of purine and pyrimidine metabolism inborn disorder of purine or pyrimidine metabolism 30,221
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018841/ScoringFiles/PGS018841.txt.gz
PGS018842
(TPMI_277.2_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other disorders of purine and pyrimidine metabolism inborn disorder of purine or pyrimidine metabolism 983,828
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018842/ScoringFiles/PGS018842.txt.gz
PGS018843
(TPMI_277.2_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other disorders of purine and pyrimidine metabolism inborn disorder of purine or pyrimidine metabolism 875,070
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018843/ScoringFiles/PGS018843.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
PPM037021 PGS018839
(TPMI_277.2_Lassosum2)
 PSS012737|
East Asian Ancestry|
19,635 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other disorders of purine and pyrimidine metabolism — AUROC: 0.6838 R²: 0.01118 sex, age, array, PCs 1-10 —
PPM037022 PGS018840
(TPMI_277.2_LDpred2)
 PSS012736|
East Asian Ancestry|
19,635 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other disorders of purine and pyrimidine metabolism — AUROC: 0.68595 R²: 0.01144 sex, age, array, PCs 1-10 —
PPM037023 PGS018841
(TPMI_277.2_MegaPRS)
 PSS012738|
East Asian Ancestry|
19,635 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other disorders of purine and pyrimidine metabolism — AUROC: 0.67271 R²: 0.00979 sex, age, array, PCs 1-10 —
PPM037024 PGS018842
(TPMI_277.2_PRS-CS)
 PSS012739|
East Asian Ancestry|
19,635 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other disorders of purine and pyrimidine metabolism — AUROC: 0.6782 R²: 0.01051 sex, age, array, PCs 1-10 —
PPM037025 PGS018843
(TPMI_277.2_SBayesR)
 PSS012740|
East Asian Ancestry|
19,635 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other disorders of purine and pyrimidine metabolism — AUROC: 0.68325 R²: 0.01114 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
PSS012736 277.2,D81.3, D81.5, E79 —
[
  • 249 cases
  • , 19,386 controls
]
,
45.8 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012737 277.2,D81.3, D81.5, E79 —
[
  • 249 cases
  • , 19,386 controls
]
,
45.8 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012738 277.2,D81.3, D81.5, E79 —
[
  • 249 cases
  • , 19,386 controls
]
,
45.8 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012739 277.2,D81.3, D81.5, E79 —
[
  • 249 cases
  • , 19,386 controls
]
,
45.8 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012740 277.2,D81.3, D81.5, E79 —
[
  • 249 cases
  • , 19,386 controls
]
,
45.8 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —