Trait: corneal disorder

Trait Information
Identifier MONDO_0000942
Description A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma. [NCIT: P378]
Trait category
Other disease
Synonyms 7 synonyms
  • cornea disease
  • cornea disease or disorder
  • corneal disease
  • corneal disorder
  • disease of cornea
  • disease or disorder of cornea
  • disorder of cornea
Child trait(s) 3 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 all PGS for "corneal disorder" 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)
PGS001029
(GBE_HC866)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Other disorders of cornea (time-to-event) corneal disorder 22
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001029/ScoringFiles/PGS001029.txt.gz
PGS001835
(portability-PLR_364.5)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Corneal dystrophy corneal dystrophy 38
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001835/ScoringFiles/PGS001835.txt.gz
PGS002042
(portability-ldpred2_364.5)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Corneal dystrophy corneal dystrophy 59,944
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002042/ScoringFiles/PGS002042.txt.gz
PGS002292
(PRS36_KC)
 PGP000321 |
He W et al. JAMA Ophthalmol (2022)
 Keratoconus keratoconus 36
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002292/ScoringFiles/PGS002292.txt.gz
PGS019056
(TPMI_370_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Keratitis keratitis 130,226
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019056/ScoringFiles/PGS019056.txt.gz
PGS019057
(TPMI_370_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Keratitis keratitis 256,197
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019057/ScoringFiles/PGS019057.txt.gz
PGS019058
(TPMI_370_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Keratitis keratitis 20,519
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019058/ScoringFiles/PGS019058.txt.gz
PGS019059
(TPMI_370_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Keratitis keratitis 983,798
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019059/ScoringFiles/PGS019059.txt.gz
PGS019060
(TPMI_370_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Keratitis keratitis 983,726
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019060/ScoringFiles/PGS019060.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
PPM007908 PGS001029
(GBE_HC866)
 PSS004662|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other disorders of cornea — AUROC: 0.71052 [0.62918, 0.79186] R²: 0.05427
Incremental AUROC (full-covars): 0.0031
PGS R2 (no covariates): 0.00332
PGS AUROC (no covariates): 0.54756 [0.45415, 0.64098]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007909 PGS001029
(GBE_HC866)
 PSS004663|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other disorders of cornea — AUROC: 0.48912 [0.0043, 0.97395] R²: 0.00203
Incremental AUROC (full-covars): 0.0
PGS R2 (no covariates): 0.00633
PGS AUROC (no covariates): 0.40016 [0.0, 0.86755]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007910 PGS001029
(GBE_HC866)
 PSS004664|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other disorders of cornea — AUROC: 0.63469 [0.57721, 0.69216] PGS R2 (no covariates): 0.01229
R²: 0.01902
Incremental AUROC (full-covars): 0.04837
PGS AUROC (no covariates): 0.59818 [0.5417, 0.65467]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007911 PGS001029
(GBE_HC866)
 PSS004665|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other disorders of cornea — AUROC: 0.62122 [0.5586, 0.68385] R²: 0.02027
Incremental AUROC (full-covars): -0.01924
PGS R2 (no covariates): 0.00532
PGS AUROC (no covariates): 0.44761 [0.382, 0.51322]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007912 PGS001029
(GBE_HC866)
 PSS004666|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other disorders of cornea — AUROC: 0.60075 [0.56985, 0.63165] R²: 0.01227
Incremental AUROC (full-covars): 0.02429
PGS R2 (no covariates): 0.00807
PGS AUROC (no covariates): 0.58115 [0.55051, 0.61178]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM038827 PGS001029
(GBE_HC866)
 PSS013916|
European Ancestry|
425,240 individuals
 PGP000865 |
Bhatt IS et al. J Assoc Res Otolaryngol (2024)
|Ext.		 Reported Trait: Age-related hearing difficulty β: -0.01604 — — — —
PPM009572 PGS001835
(portability-PLR_364.5)
 PSS009305|
European Ancestry|
19,321 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Corneal dystrophy — — Partial Correlation (partial-r): 0.0384 [0.0243, 0.0525] sex, age, birth date, deprivation index, 16 PCs —
PPM009573 PGS001835
(portability-PLR_364.5)
 PSS009079|
European Ancestry|
4,029 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Corneal dystrophy — — Partial Correlation (partial-r): 0.0753 [0.0445, 0.106] sex, age, birth date, deprivation index, 16 PCs —
PPM009574 PGS001835
(portability-PLR_364.5)
 PSS008633|
European Ancestry|
6,462 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Corneal dystrophy — — Partial Correlation (partial-r): 0.0488 [0.0245, 0.0732] sex, age, birth date, deprivation index, 16 PCs —
PPM009575 PGS001835
(portability-PLR_364.5)
 PSS008407|
Greater Middle Eastern Ancestry|
1,162 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Corneal dystrophy — — Partial Correlation (partial-r): 0.0128 [-0.0452, 0.0708] sex, age, birth date, deprivation index, 16 PCs —
PPM009577 PGS001835
(portability-PLR_364.5)
 PSS008857|
African Ancestry|
3,718 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Corneal dystrophy — — Partial Correlation (partial-r): -0.0168 [-0.049, 0.0155] sex, age, birth date, deprivation index, 16 PCs —
PPM009576 PGS001835
(portability-PLR_364.5)
 PSS008187|
South Asian Ancestry|
6,052 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Corneal dystrophy — — Partial Correlation (partial-r): -0.011 [-0.0362, 0.0143] sex, age, birth date, deprivation index, 16 PCs —
PPM039004 PGS001835
(portability-PLR_364.5)
 PSS013916|
European Ancestry|
425,240 individuals
 PGP000865 |
Bhatt IS et al. J Assoc Res Otolaryngol (2024)
|Ext.		 Reported Trait: Age-related hearing difficulty β: -0.01213 — — — —
PPM011202 PGS002042
(portability-ldpred2_364.5)
 PSS009305|
European Ancestry|
19,321 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Corneal dystrophy — — Partial Correlation (partial-r): 0.0471 [0.033, 0.0611] sex, age, birth date, deprivation index, 16 PCs —
PPM011203 PGS002042
(portability-ldpred2_364.5)
 PSS009079|
European Ancestry|
4,029 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Corneal dystrophy — — Partial Correlation (partial-r): 0.0812 [0.0504, 0.1119] sex, age, birth date, deprivation index, 16 PCs —
PPM011204 PGS002042
(portability-ldpred2_364.5)
 PSS008633|
European Ancestry|
6,462 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Corneal dystrophy — — Partial Correlation (partial-r): 0.0519 [0.0275, 0.0762] sex, age, birth date, deprivation index, 16 PCs —
PPM011205 PGS002042
(portability-ldpred2_364.5)
 PSS008407|
Greater Middle Eastern Ancestry|
1,162 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Corneal dystrophy — — Partial Correlation (partial-r): 0.0275 [-0.0306, 0.0853] sex, age, birth date, deprivation index, 16 PCs —
PPM011206 PGS002042
(portability-ldpred2_364.5)
 PSS008187|
South Asian Ancestry|
6,052 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Corneal dystrophy — — Partial Correlation (partial-r): -0.0133 [-0.0385, 0.0119] sex, age, birth date, deprivation index, 16 PCs —
PPM011207 PGS002042
(portability-ldpred2_364.5)
 PSS008857|
African Ancestry|
3,718 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Corneal dystrophy — — Partial Correlation (partial-r): -0.0084 [-0.0406, 0.0238] sex, age, birth date, deprivation index, 16 PCs —
PPM039160 PGS002042
(portability-ldpred2_364.5)
 PSS013916|
European Ancestry|
425,240 individuals
 PGP000865 |
Bhatt IS et al. J Assoc Res Otolaryngol (2024)
|Ext.		 Reported Trait: Age-related hearing difficulty β: -0.00973 — — — —
PPM013012 PGS002292
(PRS36_KC)
 PSS009647|
European Ancestry|
142,595 individuals
 PGP000321 |
He W et al. JAMA Ophthalmol (2022)
 Reported Trait: Keratoconus — AUROC: 0.705 — — —
PPM013013 PGS002292
(PRS36_KC)
 PSS009647|
European Ancestry|
142,595 individuals
 PGP000321 |
He W et al. JAMA Ophthalmol (2022)
 Reported Trait: Keratoconus with corneal resistance factor variants — AUROC: 0.756 — — —
PPM013014 PGS002292
(PRS36_KC)
 PSS009647|
European Ancestry|
142,595 individuals
 PGP000321 |
He W et al. JAMA Ophthalmol (2022)
 Reported Trait: Keratoconus with central corneal thickness variants — AUROC: 0.755 — — —
PPM037238 PGS019056
(TPMI_370_Lassosum2)
 PSS012959|
East Asian Ancestry|
17,270 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Keratitis — AUROC: 0.6425 R²: 0.02353 sex, age, array, PCs 1-10 —
PPM037239 PGS019057
(TPMI_370_LDpred2)
 PSS012958|
East Asian Ancestry|
17,270 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Keratitis — AUROC: 0.64516 R²: 0.02464 sex, age, array, PCs 1-10 —
PPM037240 PGS019058
(TPMI_370_MegaPRS)
 PSS012960|
East Asian Ancestry|
17,270 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Keratitis — AUROC: 0.64239 R²: 0.02302 sex, age, array, PCs 1-10 —
PPM037241 PGS019059
(TPMI_370_PRS-CS)
 PSS012961|
East Asian Ancestry|
17,270 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Keratitis — AUROC: 0.64193 R²: 0.02342 sex, age, array, PCs 1-10 —
PPM037242 PGS019060
(TPMI_370_SBayesR)
 PSS012962|
East Asian Ancestry|
17,270 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Keratitis — AUROC: 0.64304 R²: 0.02348 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
PSS012958 370,B60.13, H16 —
[
  • 340 cases
  • , 16,930 controls
]
,
46.95 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012959 370,B60.13, H16 —
[
  • 340 cases
  • , 16,930 controls
]
,
46.95 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012960 370,B60.13, H16 —
[
  • 340 cases
  • , 16,930 controls
]
,
46.95 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS009647 Keratoconus cases (ICD10 diagnosis code H186) and healthy controls without severe eye diseases (UKB Field 6148) —
[
  • 102 cases
  • , 142,493 controls
]
 — European — UKB —
PSS012961 370,B60.13, H16 —
[
  • 340 cases
  • , 16,930 controls
]
,
46.95 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012962 370,B60.13, H16 —
[
  • 340 cases
  • , 16,930 controls
]
,
46.95 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013916 — —
[
  • 111,243 cases
  • , 313,997 controls
]
,
46.21 % Male samples
 — European
(British, Irish)		 — UKB —
PSS009079 — — 4,029 individuals — European Poland (NE Europe) UKB —
PSS008407 — — 1,162 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009305 — — 19,321 individuals — European UK (+ Ireland) UKB —
PSS008633 — — 6,462 individuals — European Italy (South Europe) UKB —
PSS008857 — — 3,718 individuals — African unspecified Nigeria (West Africa) UKB —
PSS008187 — — 6,052 individuals — South Asian India (South Asia) UKB —
PSS004662 — —
[
  • 34 cases
  • , 6,463 controls
]
 — African unspecified — UKB —
PSS004663 — —
[
  • 3 cases
  • , 1,701 controls
]
 — East Asian — UKB —
PSS004664 — —
[
  • 104 cases
  • , 24,801 controls
]
 — European non-white British ancestry UKB —
PSS004665 — —
[
  • 61 cases
  • , 7,770 controls
]
 — South Asian — UKB —
PSS004666 — —
[
  • 353 cases
  • , 67,072 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)