Search results for "glaucoma"

All results
28
Scores
4
Traits
6
Publications
18

glaucoma

MONDO_0005041
Other trait
Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. [NCIT: P378]
Associated PGS 15 Show Reported Traits

open-angle glaucoma

MONDO_0005338
Other trait
Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage. [NCIT: P378]
Associated PGS 5 Show Reported Traits
Waksmunski AR et al. (2022) - OphthalmologyPMID:35718050doi:10.1016/j.ophtha.2022.06.012PGP000352
PGS developed 1 - PGS evaluated 1
Tran JH et al. (2023) - Transl Vis Sci TechnolPMID:36786746doi:10.1167/tvst.12.2.20PGP000471
PGS developed 2 - PGS evaluated 2
Craig JE et al. (2020) - Nat GenetPMID:31959993doi:10.1038/s41588-019-0556-yPGP000066
PGS developed 1 - PGS evaluated 1

eye disorder

MONDO_0005328
Other trait
A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. [NCIT: C26767]
Associated PGS 49 Show Reported Traits

disorder of orbital region

MONDO_0002022
Other trait
A disease that involves the orbital region. [MONDO: patterns/location]
Associated PGS 49 Show Reported Traits

disorder of visual system

MONDO_0024458
Other trait
A disease that involves the visual system. [MONDO: patterns/location]
Associated PGS 49 Show Reported Traits
Name: Glaucoma_prscsNumber of Variants: 1,082,518Publication ID: PGP000364
Reported trait: GlaucomaMapped trait(s): glaucoma MONDO_0005041
Name: MTAG_glaucomaNumber of Variants: 2,673Publication ID: PGP000066
Reported trait: GlaucomaMapped trait(s): glaucoma MONDO_0005041
MacGregor S et al. (2018) - Nat GenetPMID:30054594doi:10.1038/s41588-018-0176-yPGP000061
PGS developed 1 - PGS evaluated 1
Sekimitsu S et al. (2023) - JAMA OphthalmolPMID:37589995doi:10.1001/jamaophthalmol.2023.3645PGP000670
PGS developed 1 - PGS evaluated 1
Saks DG et al. (2023) - Acta OphthalmolPMID:37800621doi:10.1111/aos.15775PGP000688
PGS developed 0 - PGS evaluated 1
Marshall HN et al. (2022) - Ophthalmol GlaucomaPMID:35842105doi:10.1016/j.ogla.2022.06.009PGP000588
PGS developed 0 - PGS evaluated 1
Name: glaucoma_PRSmix_eurNumber of Variants: 835,476Publication ID: PGP000604
Reported trait: GlaucomaMapped trait(s): glaucoma MONDO_0005041
Fan BJ et al. (2019) - JAMA OphthalmolPMID:31436842doi:10.1001/jamaophthalmol.2019.3109PGP000115
PGS developed 1 - PGS evaluated 1
Cole BS et al. (2021) - Invest Ophthalmol Vis SciPMID:33605984doi:10.1167/iovs.62.2.28PGP000169
PGS developed 1 - PGS evaluated 1
Gao XR et al. (2022) - Nat CommunPMID:36450729doi:10.1038/s41467-022-35188-3PGP000426
PGS developed 1 - PGS evaluated 1
Name: glaucoma_PRSmixPlus_eurNumber of Variants: 837,948Publication ID: PGP000604
Reported trait: GlaucomaMapped trait(s): glaucoma MONDO_0005041
He W et al. (2022) - JAMA OphthalmolPMID:35446358doi:10.1001/jamaophthalmol.2022.0891PGP000321
PGS developed 1 - PGS evaluated 1
Siggs OM et al. (2022) - JAMA OphthalmolPMID:36355370doi:10.1001/jamaophthalmol.2022.4688PGP000403
PGS developed 0 - PGS evaluated 1
Qassim A et al. (2020) - OphthalmologyPMID:32081492doi:10.1016/j.ophtha.2019.12.025PGP000225
PGS developed 1 - PGS evaluated 1
Mars N et al. (2022) - Am J Hum GenetPMID:36347255doi:10.1016/j.ajhg.2022.10.009PGP000364
PGS developed 21 - PGS evaluated 21
Wang Y et al. (2023) - Cell GenomPMID:36777179doi:10.1016/j.xgen.2022.100241PGP000262
PGS developed 18 - PGS evaluated 18
Truong B et al. (2024) - Cell GenomPMID:38508198doi:10.1016/j.xgen.2024.100523PGP000604
PGS developed 158 - PGS evaluated 158

disease by body system or component

MONDO_7770006
Other trait
A grouping class for human diseases classified by the body system or anatomical component primarily affected.
Associated PGS 2072 Show Reported Traits
Privé F et al. (2022) - Am J Hum GenetPMID:34995502doi:10.1016/j.ajhg.2021.11.008PGP000263
PGS developed 430 - PGS evaluated 430
Tanigawa Y et al. (2022) - PLoS GenetPMID:35324888doi:10.1371/journal.pgen.1010105PGP000244
PGS developed 779 - PGS evaluated 814