Trait: uveal disorder

Trait Information
Identifier MONDO_0002661
Description A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma. [NCIT: P378]
Trait category
Other trait
Synonyms 10 synonyms
  • disease of uvea
  • disease or disorder of uvea
  • disorder of uvea
  • disorder of uveal tract
  • uvea disease
  • uvea disease or disorder
  • uveal disease
  • uveal diseases
  • uveal disorder
  • uveal tract disease
Child trait(s) 2 child traits

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 PGS for child terms of "uveal disorder" in the EFO hierarchy.
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)
PGS000966
(GBE_HC26)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Iritis iritis 1
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000966/ScoringFiles/PGS000966.txt.gz
PGS019061
(TPMI_371.1_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Uveitis noninfectious or NOS uveitis 20
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019061/ScoringFiles/PGS019061.txt.gz
PGS019062
(TPMI_371.1_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Uveitis noninfectious or NOS uveitis 939,787
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019062/ScoringFiles/PGS019062.txt.gz
PGS019063
(TPMI_371.1_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Uveitis noninfectious or NOS uveitis 323,165
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019063/ScoringFiles/PGS019063.txt.gz
PGS019064
(TPMI_371.1_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Uveitis noninfectious or NOS uveitis 983,753
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019064/ScoringFiles/PGS019064.txt.gz
PGS019065
(TPMI_371.1_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Uveitis noninfectious or NOS uveitis 21,630
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019065/ScoringFiles/PGS019065.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
PPM007654 PGS000966
(GBE_HC26)
 PSS004399|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Iritis — AUROC: 0.92131 [0.81365, 1.0] R²: 0.11296
Incremental AUROC (full-covars): 0.00359
PGS R2 (no covariates): 0.14006
PGS AUROC (no covariates): 0.66325 [0.33513, 0.99137]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007655 PGS000966
(GBE_HC26)
 PSS004400|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Iritis — AUROC: 0.79843 [0.66002, 0.93684] R²: 0.10294
Incremental AUROC (full-covars): 0.06447
PGS R2 (no covariates): 0.09763
PGS AUROC (no covariates): 0.75287 [0.61793, 0.88781]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007656 PGS000966
(GBE_HC26)
 PSS004401|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Iritis — AUROC: 0.961 [0.92628, 0.99572] R²: 0.2291
Incremental AUROC (full-covars): -0.00048
PGS R2 (no covariates): 0.00222
PGS AUROC (no covariates): 0.49061 [0.48911, 0.49211]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007657 PGS000966
(GBE_HC26)
 PSS004402|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Iritis — AUROC: 0.77646 [0.69039, 0.86254] R²: 0.08068
Incremental AUROC (full-covars): 0.22055
PGS R2 (no covariates): 0.10834
PGS AUROC (no covariates): 0.78582 [0.71071, 0.86092]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM037243 PGS019061
(TPMI_371.1_Lassosum2)
 PSS012964|
East Asian Ancestry|
17,058 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Uveitis noninfectious or NOS — AUROC: 0.69478 R²: 0.02327 sex, age, array, PCs 1-10 —
PPM037244 PGS019062
(TPMI_371.1_LDpred2)
 PSS012963|
East Asian Ancestry|
17,058 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Uveitis noninfectious or NOS — AUROC: 0.68414 R²: 0.02171 sex, age, array, PCs 1-10 —
PPM037245 PGS019063
(TPMI_371.1_MegaPRS)
 PSS012965|
East Asian Ancestry|
17,058 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Uveitis noninfectious or NOS — AUROC: 0.69623 R²: 0.0113 sex, age, array, PCs 1-10 —
PPM037246 PGS019064
(TPMI_371.1_PRS-CS)
 PSS012966|
East Asian Ancestry|
17,058 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Uveitis noninfectious or NOS — AUROC: 0.69329 R²: 0.0217 sex, age, array, PCs 1-10 —
PPM037247 PGS019065
(TPMI_371.1_SBayesR)
 PSS012967|
East Asian Ancestry|
17,058 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Uveitis noninfectious or NOS — AUROC: 0.69575 R²: 0.02286 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
PSS012963 360.11, 360.12, 363.01, 363.03, 363.04, 363.05, 363.06, 363.07, 363.08, 363.1, 363.2, 364.0, 364.1, 364.2, 364.3,H20, H30, H44.11, H44.13 —
[
  • 128 cases
  • , 16,930 controls
]
,
47.25 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012964 360.11, 360.12, 363.01, 363.03, 363.04, 363.05, 363.06, 363.07, 363.08, 363.1, 363.2, 364.0, 364.1, 364.2, 364.3,H20, H30, H44.11, H44.13 —
[
  • 128 cases
  • , 16,930 controls
]
,
47.25 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012965 360.11, 360.12, 363.01, 363.03, 363.04, 363.05, 363.06, 363.07, 363.08, 363.1, 363.2, 364.0, 364.1, 364.2, 364.3,H20, H30, H44.11, H44.13 —
[
  • 128 cases
  • , 16,930 controls
]
,
47.25 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012966 360.11, 360.12, 363.01, 363.03, 363.04, 363.05, 363.06, 363.07, 363.08, 363.1, 363.2, 364.0, 364.1, 364.2, 364.3,H20, H30, H44.11, H44.13 —
[
  • 128 cases
  • , 16,930 controls
]
,
47.25 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012967 360.11, 360.12, 363.01, 363.03, 363.04, 363.05, 363.06, 363.07, 363.08, 363.1, 363.2, 364.0, 364.1, 364.2, 364.3,H20, H30, H44.11, H44.13 —
[
  • 128 cases
  • , 16,930 controls
]
,
47.25 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS004399 — —
[
  • 3 cases
  • , 6,494 controls
]
 — African unspecified — UKB —
PSS004400 — —
[
  • 14 cases
  • , 24,891 controls
]
 — European non-white British ancestry UKB —
PSS004401 — —
[
  • 4 cases
  • , 7,827 controls
]
 — South Asian — UKB —
PSS004402 — —
[
  • 40 cases
  • , 67,385 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)