Experimental Factor Ontology (EFO) Information | |
Identifier | EFO_0004190 |
Description | Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage. [NCIT: P378] | Trait category |
Other disease
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Synonyms |
7 synonyms
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Mapped term(s) |
22 mapped terms
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Polygenic Score (PGS) ID | PGS Name | PGS Publication (PGP) ID | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants | PGS Scoring File (FTP Link) |
---|---|---|---|---|---|---|
PGS000350 | GRS12_POAG | PGP000115 Fan BJ et al. JAMA Ophthalmol (2019) | Primary open-angle glaucoma | open-angle glaucoma | 12 | http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000350/ScoringFiles/PGS000350.txt.gz |
PGS Performance Metric ID (PPM ID) |
Evaluated Score |
PGS Sample Set ID (PSS ID) |
Performance Source | Trait |
PGS Effect Sizes (per SD change) |
PGS Classification Metrics | Other Metrics | Covariates Included in the Model | PGS Performance: Other Relevant Information |
---|---|---|---|---|---|---|---|---|---|
PPM000998 | PGS000350 (GRS12_POAG) | PSS000513 | PGP000115 Fan BJ et al. (2019) |
Reported Trait: Primary open-angle glaucoma age at diagnosis | β: -0.36 [-0.56, -0.16] | — | — | sex, DNA source, population structure | — |
PPM000997 | PGS000350 (GRS12_POAG) | PSS000512 | PGP000115 Fan BJ et al. (2019) |
Reported Trait: Primary open-angle glaucoma | OR: 1.24 [1.21, 1.27] | — | — | sex, DNA source, population structure | — |
PGS Sample Set ID (PSS ID) |
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 |
---|---|---|---|---|---|---|---|---|
PSS000512 | A harmonized definition of POAG used the following criteria: (1) open anterior segment angles; (2) reproducible 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. | — | [ ,
43.38 % Male samples |
— | European | — | GLAUGEN, NEIGHBOR | — |
PSS000513 | A harmonized definition of POAG used the following criteria: (1) open anterior segment angles; (2) reproducible 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. | — | [
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— | European | — | GLAUGEN, NEIGHBOR | — |