Trait: eye disease

Experimental Factor Ontology (EFO) Information
Identifier EFO_0003966
Description A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjun... ctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. [NCIT: C26767]Show more
Trait category
Other disease
Synonyms 14 synonyms
  • disease of eye
  • disease of eyeball
  • disease of eyeball of camera-type eye
  • disease or disorder of eyeball of camera-type eye
  • disorder of eye
  • disorder of eye proper
  • disorder of eyeball
  • disorder of eyeball of camera-type eye
  • disorder of globe
  • eye disease
  • eye disorder
  • eyeball of camera-type eye disease
  • eyeball of camera-type eye disease or disorder
  • globe disease
Mapped terms 19 mapped terms
  • DOID:1242
  • DOID:5614
  • ICD10:H44
  • ICD9:360
  • ICD9:360.29
  • ICD9:360.89
  • ICD9:360.9
  • ICD9:379.8
  • ICD9:379.90
  • MEDGEN:1370071
  • MESH:D005128
  • MONDO:0005328
  • MeSH:D005128
  • NCIT:C26767
  • NCIt:C26767
  • SCTID:371405004
  • UMLS:C0015397
  • UMLS:C4316870
  • Wikipedia:Eye_disease
Child trait(s) 17 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 "eye disease" and any child terms of this trait in the EFO hierarchy by default.
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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)
PGS000137
(MTAG_glaucoma)
PGP000066 |
Craig JE et al. Nat Genet (2020)
Glaucomaglaucoma2,673
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000137/ScoringFiles/PGS000137.txt.gz
PGS000341
(GRS33_SSc)
PGP000110 |
Bossini-Castillo L et al. Ann Rheum Dis (2020)
Systemic sclerosissystemic scleroderma33
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000341/ScoringFiles/PGS000341.txt.gz
PGS000350
(GRS12_POAG)
PGP000115 |
Fan BJ et al. JAMA Ophthalmol (2019)
Primary open-angle glaucomaopen-angle glaucoma12
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000350/ScoringFiles/PGS000350.txt.gz
PGS000617
(PRSWEB_PHECODE190_20001-1030_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Ocular cancerocular cancer834,009
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000617/ScoringFiles/PGS000617.txt.gz
PGS000764
(PRS23_POAG)
PGP000169 |
Cole BS et al. Invest Ophthalmol Vis Sci (2021)
Primary-open angle glaucomaopen-angle glaucoma23
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000764/ScoringFiles/PGS000764.txt.gz
PGS000819
(PRS_DR)
PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
Diabetic retinopathydiabetic retinopathy3,537,914
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000819/ScoringFiles/PGS000819.txt.gz
PGS000862
(DR)
PGP000211 |
Aly DM et al. Nat Genet (2021)
Diabetic Retinopathydiabetic retinopathy30
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000862/ScoringFiles/PGS000862.txt.gz
PGS000966
(GBE_HC26)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Iritisiritis1
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000966/ScoringFiles/PGS000966.txt.gz
PGS000990
(GBE_HC878)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Retinal detachments and breaks (time-to-event)retinal detachment,
retinal break		237
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000990/ScoringFiles/PGS000990.txt.gz
PGS001013
(GBE_BIN_FC5006148)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Macular degenerationmacular degeneration53
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001013/ScoringFiles/PGS001013.txt.gz
PGS001028
(GBE_BIN_FC1006148)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Diabetic eye diseasediabetic eye disease123
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001028/ScoringFiles/PGS001028.txt.gz
PGS001029
(GBE_HC866)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Other disorders of cornea (time-to-event)corneal disease22
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001029/ScoringFiles/PGS001029.txt.gz
PGS001137
(GBE_HC302)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Retinal detachmentretinal detachment321
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001137/ScoringFiles/PGS001137.txt.gz
PGS001275
(GBE_HC880)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Other retinal disorders (time-to-event)retinopathy6
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001275/ScoringFiles/PGS001275.txt.gz
PGS001276
(GBE_HC881)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Retinal disorders in diseases classified elsewhere (time-to-event)retinopathy185
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001276/ScoringFiles/PGS001276.txt.gz
PGS001302
(GBE_HC25)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Cataractcataract1,214
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001302/ScoringFiles/PGS001302.txt.gz
PGS001303
(GBE_HC872)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Other cataract (time-to-event)cataract480
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001303/ScoringFiles/PGS001303.txt.gz
PGS001308
(GBE_HC321)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Sjogren's syndrome/sicca syndromeSjogren syndrome7
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001308/ScoringFiles/PGS001308.txt.gz
PGS001321
(GBE_BIN_FC2006148)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Eye problems/disorders (Glaucoma)glaucoma1,103
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001321/ScoringFiles/PGS001321.txt.gz
PGS001322
(GBE_HC276)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Glaucomaglaucoma655
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001322/ScoringFiles/PGS001322.txt.gz
PGS001323
(GBE_HC882)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Glaucoma (time-to-event)glaucoma2,066
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001323/ScoringFiles/PGS001323.txt.gz
PGS001792
(1kgeur_gbmi_leaveUKBBout_POAG_pst_eff_a1_b0.5_phiauto)
PGP000262 |
Wang Y et al. Cell Genom (2023)
Primary open-angle glaucomaglaucoma911,402
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001792/ScoringFiles/PGS001792.txt.gz
PGS001797
(1kgeur_gbmi_POAG_pst_eff_a1_b0.5_phiauto)
PGP000262 |
Wang Y et al. Cell Genom (2023)
Primary open-angle glaucomaopen-angle glaucoma885,417
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001797/ScoringFiles/PGS001797.txt.gz
PGS001819
(portability-PLR_250.7)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Diabetic retinopathydiabetic retinopathy249
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001819/ScoringFiles/PGS001819.txt.gz
PGS001833
(portability-PLR_361)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Retinal detachments and defectsretinal detachment3,737
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001833/ScoringFiles/PGS001833.txt.gz
PGS001834
(portability-PLR_362.29)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Macular degeneration (senile) of retina NOSage-related macular degeneration157
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001834/ScoringFiles/PGS001834.txt.gz
PGS001835
(portability-PLR_364.5)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Corneal dystrophycorneal dystrophy38
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001835/ScoringFiles/PGS001835.txt.gz
PGS001836
(portability-PLR_365)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Glaucomaglaucoma7,052
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001836/ScoringFiles/PGS001836.txt.gz
PGS001837
(portability-PLR_366)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Cataractcataract11,617
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001837/ScoringFiles/PGS001837.txt.gz
PGS002027
(portability-ldpred2_250.7)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Diabetic retinopathydiabetic retinopathy389,029
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002027/ScoringFiles/PGS002027.txt.gz
PGS002040
(portability-ldpred2_361)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Retinal detachments and defectsretinal detachment706,872
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002040/ScoringFiles/PGS002040.txt.gz
PGS002041
(portability-ldpred2_362.29)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Macular degeneration (senile) of retina NOSage-related macular degeneration116,538
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002041/ScoringFiles/PGS002041.txt.gz
PGS002042
(portability-ldpred2_364.5)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Corneal dystrophycorneal dystrophy59,944
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002042/ScoringFiles/PGS002042.txt.gz
PGS002043
(portability-ldpred2_365)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Glaucomaglaucoma672,952
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002043/ScoringFiles/PGS002043.txt.gz
PGS002044
(portability-ldpred2_366)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Cataractcataract711,169
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002044/ScoringFiles/PGS002044.txt.gz
PGS002045
(portability-ldpred2_371)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Inflammation of the eyeeye disease,
eye inflammation		527,030
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002045/ScoringFiles/PGS002045.txt.gz
PGS002269
(PRS47_AMD)
PGP000299 |
Zekavat SM et al. Ophthalmology (2022)
Age-related macular degenerationage-related macular degeneration47
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002269/ScoringFiles/PGS002269.txt.gz
PGS002292
(PRS36_KC)
PGP000321 |
He W et al. JAMA Ophthalmol (2022)
Keratoconuskeratoconus36
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002292/ScoringFiles/PGS002292.txt.gz
PGS002741
(GRS127_POAG_META)
PGP000352 |
Waksmunski AR et al. Ophthalmology (2022)
Primary open-angle glaucomaopen-angle glaucoma127
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002741/ScoringFiles/PGS002741.txt.gz
PGS002761
(Glaucoma_prscs)
PGP000364 |
Mars N et al. Am J Hum Genet (2022)
Glaucomaglaucoma1,082,518
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002761/ScoringFiles/PGS002761.txt.gz
PGS004454
(disease.H26.score)
PGP000561 |
Jung H et al. Commun Biol (2024)
H26 (Other cataract)cataract1,059,939
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004454/ScoringFiles/PGS004454.txt.gz
PGS004524
(meta.H26.score)
PGP000561 |
Jung H et al. Commun Biol (2024)
H26 (Other cataract)cataract1,059,939
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004524/ScoringFiles/PGS004524.txt.gz
PGS004606
(AMD-IAMDGC-EUR)
PGP000582 |
Gorman BR et al. medRxiv (2022)
|Pre		Age-related macular degenerationage-related macular degeneration1,000,946
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004606/ScoringFiles/PGS004606.txt.gz
PGS004607
(AMD-MVP-AFR)
PGP000582 |
Gorman BR et al. medRxiv (2022)
|Pre		Age-related macular degenerationage-related macular degeneration1,067,520
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004607/ScoringFiles/PGS004607.txt.gz
PGS004765
(glaucoma_PRSmix_eur)
PGP000604 |
Truong B et al. Cell Genom (2024)
Glaucomaglaucoma835,476
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004765/ScoringFiles/PGS004765.txt.gz
PGS004766
(glaucoma_PRSmixPlus_eur)
PGP000604 |
Truong B et al. Cell Genom (2024)
Glaucomaglaucoma837,948
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004766/ScoringFiles/PGS004766.txt.gz
PGS004944
(lassosum_weights_POAG_CROSS_EUR)
PGP000670 |
Sekimitsu S et al. JAMA Ophthalmol (2023)
Primary open-angle glaucomaopen-angle glaucoma110,772
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004944/ScoringFiles/PGS004944.txt.gz
PGS004952
(PRS52_AMD)
PGP000673 |
Herold JM et al. Invest Ophthalmol Vis Sci (2023)
Age-related macular degenerationage-related macular degeneration52
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004952/ScoringFiles/PGS004952.txt.gz
PGS005142
(Cataract (PRS-CS; EAS))
PGP000704 |
Jung HU et al. Commun Biol (2025)
Cataractcataract908,465
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005142/ScoringFiles/PGS005142.txt.gz
PGS005149
(Cataract (PRS-CSx; EAS+EUR))
PGP000704 |
Jung HU et al. Commun Biol (2025)
Cataractcataract908,465
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005149/ScoringFiles/PGS005149.txt.gz
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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.

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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
PPM000421PGS000137
(MTAG_glaucoma)
PSS000245|
European Ancestry|
1,795 individuals
PGP000066 |
Craig JE et al. Nat Genet (2020)
Reported Trait: Primary open-angle glaucoma (POAG)—AUROC: 0.71 [0.66, 0.77]———
PPM000422PGS000137
(MTAG_glaucoma)
PSS000245|
European Ancestry|
1,795 individuals
PGP000066 |
Craig JE et al. Nat Genet (2020)
Reported Trait: Primary open-angle glaucoma (POAG)—AUROC: 0.8—age, sex, self-reported family history—
PPM000423PGS000137
(MTAG_glaucoma)
PSS000248|
European Ancestry|
3,112 individuals
PGP000066 |
Craig JE et al. Nat Genet (2020)
Reported Trait: Glaucoma—AUROC: 0.66 [0.64, 0.68]——Model 1
PPM000424PGS000137
(MTAG_glaucoma)
PSS000248|
European Ancestry|
3,112 individuals
PGP000066 |
Craig JE et al. Nat Genet (2020)
Reported Trait: Glaucoma—AUROC: 0.75 [0.73, 0.76]—age, sexModel 3
PPM000425PGS000137
(MTAG_glaucoma)
PSS000249|
South Asian Ancestry|
7,033 individuals
PGP000066 |
Craig JE et al. Nat Genet (2020)
Reported Trait: Glaucoma—AUROC: 0.64 [0.59, 0.68]——Model 1
PPM000426PGS000137
(MTAG_glaucoma)
PSS000249|
South Asian Ancestry|
7,033 individuals
PGP000066 |
Craig JE et al. Nat Genet (2020)
Reported Trait: Glaucoma—AUROC: 0.76 [0.73, 0.79]—age, sexModel 3
PPM000427PGS000137
(MTAG_glaucoma)
PSS000246|
European Ancestry|
965 individuals
PGP000066 |
Craig JE et al. Nat Genet (2020)
Reported Trait: Glaucoma in MYOC p.Gln368Ter carriers——HR (Hazard Ratio; highest vs. lowest tertile of PRS): 3.4 [1.7, 6.6]sex, PCs 1-6—
PPM000428PGS000137
(MTAG_glaucoma)
PSS000247|
European Ancestry|
3,112 individuals
PGP000066 |
Craig JE et al. Nat Genet (2020)
Reported Trait: Primary open-angle glaucoma (POAG)—AUROC: 0.67 [0.63, 0.72]——Model 1
PPM000429PGS000137
(MTAG_glaucoma)
PSS000247|
European Ancestry|
3,112 individuals
PGP000066 |
Craig JE et al. Nat Genet (2020)
Reported Trait: Primary open-angle glaucoma (POAG)—AUROC: 0.76 [0.72, 0.81]—age, sexModel 3
PPM000968PGS000341
(GRS33_SSc)
PSS000489|
European Ancestry|
339 individuals
PGP000110 |
Bossini-Castillo L et al. Ann Rheum Dis (2020)
Reported Trait: Systemic sclerosis—AUROC: 0.644——*Some overlap with score development and testing samples
PPM000969PGS000341
(GRS33_SSc)
PSS000489|
European Ancestry|
339 individuals
PGP000110 |
Bossini-Castillo L et al. Ann Rheum Dis (2020)
Reported Trait: Systemic sclerosis—AUROC: 0.722—Systemic sclerosis status and immune cell counts of: memory B cells, resting NK cells, M0 macrophage... s and activated dendritic cellsShow more*Some overlap with score development and testing samples
PPM000970PGS000341
(GRS33_SSc)
PSS000489|
European Ancestry|
339 individuals
PGP000110 |
Bossini-Castillo L et al. Ann Rheum Dis (2020)
Reported Trait: Systemic sclerosis—AUROC: 0.787 [0.73, 0.84]—Systemic sclerosis status, age and immune cell counts of: memory B cells, resting NK cells, M0 macro... phages and activated dendritic cellsShow more*Some overlap with score development and testing samples
PPM000997PGS000350
(GRS12_POAG)
PSS000512|
European Ancestry|
6,538 individuals
PGP000115 |
Fan BJ et al. JAMA Ophthalmol (2019)
Reported Trait: Primary open-angle glaucomaOR: 1.24 [1.21, 1.27]——sex, DNA source, population structure—
PPM000998PGS000350
(GRS12_POAG)
PSS000513|
European Ancestry|
2,947 individuals
PGP000115 |
Fan BJ et al. JAMA Ophthalmol (2019)
Reported Trait: Primary open-angle glaucoma age at diagnosisβ: -0.36 [-0.56, -0.16]——sex, DNA source, population structure—
PPM001302PGS000617
(PRSWEB_PHECODE190_20001-1030_PRS-CS_MGI_20200608)
PSS000556|
European Ancestry|
672 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Cancer of eyeOR: 1.339 [1.033, 1.736]
β: 0.292 (0.132)		AUROC: 0.586 [0.508, 0.658]Nagelkerke's Pseudo-R²: 0.0152
Brier score: 0.0831
Odds Ratio (OR, top 1% vs. Rest): 4.74 [1.2, 18.7]		age, sex, batch PCs 1-4Cancer PRSweb PheWAS Results: PRSWEB_PHECODE190_20001-1030_PRS-CS_MGI_20200608
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Evaluated Samples

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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
PSS000245——
[
  • 74 cases
  • , 1,721 controls
]
,
43.0 % Male samples
Mean = 64.02 years
Sd = 8.24 years		European—BMES—
PSS000246MYOC p.Gln368Ter (rs74315329) carriers using imputation. Glaucoma cases were defined as those who (i... ) had an ICD-10 diagnosis of ‘primary open angle glaucoma’, ‘other glaucoma’ or ‘glaucoma, unspecified’; (ii) responded ‘glaucoma’ to the question ‘Has a doctor told you that you have any of the following problems with your eyes?’; or (iii) responded ‘glaucoma’ to the question ‘In the touch screen you selected that you have been told by a doctor that you have other serious illnesses or disabilities, could you now tell me what they are? (non-cancer illness).Show more—
[
  • 72 cases
  • , 893 controls
]
—European—UKB—
PSS000247ICD-10 defined Primary open-angle glaucoma (POAG)—
[
  • 112 cases
  • , 3,000 controls
]
—European—UKB—
PSS000248Glaucoma cases were defined as those who (i) had an ICD-10 diagnosis of ‘primary open angle glaucoma... ’, ‘other glaucoma’ or ‘glaucoma, unspecified’; (ii) responded ‘glaucoma’ to the question ‘Has a doctor told you that you have any of the following problems with your eyes?’; or (iii) responded ‘glaucoma’ to the question ‘In the touch screen you selected that you have been told by a doctor that you have other serious illnesses or disabilities, could you now tell me what they are? (non-cancer illness). Show more—
[
  • 112 cases
  • , 3,000 controls
]
—European—UKB—
PSS000249Glaucoma cases were defined as those who (i) had an ICD-10 diagnosis of ‘primary open angle glaucoma... ’, ‘other glaucoma’ or ‘glaucoma, unspecified’; (ii) responded ‘glaucoma’ to the question ‘Has a doctor told you that you have any of the following problems with your eyes?’; or (iii) responded ‘glaucoma’ to the question ‘In the touch screen you selected that you have been told by a doctor that you have other serious illnesses or disabilities, could you now tell me what they are? (non-cancer illness). Show more—
[
  • 192 cases
  • , 6,841 controls
]
—South Asian—UKB—
PSS000489The diagnosttic criteria for each disease was based on gold-standard clinical guidelines.—339 individuals—European
(Spanish)		—PRECISESADS—
PSS000512A harmonized definition of POAG used the following criteria: (1) open anterior segment angles; (2) r... eproducible glaucomatous visual field loss on reliable tests; or (3) an eye with cup-disc ratio of at least 0.7 with 1 visual field showing glaucomatous loss; and (4) no identifiable secondary cause for optic nerve disease. Show more—
[
  • 3,108 cases
  • , 3,430 controls
]
,
43.38 % Male samples
—European—GLAUGEN, NEIGHBOR—
PSS000513A harmonized definition of POAG used the following criteria: (1) open anterior segment angles; (2) r... eproducible glaucomatous visual field loss on reliable tests; or (3) an eye with cup-disc ratio of at least 0.7 with 1 visual field showing glaucomatous loss; and (4) no identifiable secondary cause for optic nerve disease. Show more—
[
  • 2,947 cases
  • , 0 controls
]
—European—GLAUGEN, NEIGHBOR—
PSS000556PheCode:190; ICD9CM:190.0, 190.1, 190.2, 190.3, 190.4, 190.5, 190.6, 190.7, 190.8, 190.9, 234.0, V10... .84; ICD10CM:C69, C69.0, C69.00, C69.01, C69.02, C69.1, C69.10, C69.11, C69.12, C69.2, C69.20, C69.21, C69.22, C69.3, C69.30, C69.31, C69.32, C69.4, C69.40, C69.41, C69.42, C69.5, C69.50, C69.51, C69.52, C69.6, C69.60, C69.61, C69.62, C69.8, C69.80, C69.81, C69.82, C69.9, C69.90, C69.91, C69.92, D09.2, D09.20, D09.21, D09.22Show more—
[
  • 62 cases
  • , 610 controls
]
—European—MGI—
PSS000977Cases, classified by fellowship-trained glaucoma specialists were defined as having an open iridocor... neal angle and characteristic optic nerve defects with corresponding visual field loss, whereas controls, classified by fellowship-trained glaucoma specialists exhibited a lack of confounding ocular conditions.Show more—
[
  • 1,783 cases
  • , 2,047 controls
]
,
36.4 % Male samples
—African American or Afro-Caribbean, African unspecified—POAAGG—
PSS000978Cases, classified by fellowship-trained glaucoma specialists were defined as having an open iridocor... neal angle and characteristic optic nerve defects with corresponding visual field loss, whereas controls, classified by fellowship-trained glaucoma specialists exhibited a lack of confounding ocular conditions.Show more—
[
  • 755 cases
  • , 1,380 controls
]
—African American or Afro-Caribbean, African unspecified—POAAGG—
PSS001065All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2... D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3.Show more—
[
  • 317 cases
  • , 1,608 controls
]
—African American or Afro-Caribbean—BioMe—
PSS001066All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2... D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3.Show more—
[
  • 90 cases
  • , 888 controls
]
—European—BioMe—
PSS001067All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2... D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3.Show more—
[
  • 90 cases
  • , 888 controls
]
—European—BioMe—
PSS001067All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2... D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3.Show more—
[
  • 317 cases
  • , 1,608 controls
]
—African American or Afro-Caribbean—BioMe—
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