Search results for "glaucoma"

All results
23
Scores
2
Traits
6
Publications
15

glaucoma

MONDO_0005041
Other disease
Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. [NCIT: P378]
Associated PGS 12 Show Reported Traits

open-angle glaucoma

EFO_0004190
Other disease
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 4 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
Craig JE et al. (2020) - Nat GenetPMID:31959993doi:10.1038/s41588-019-0556-yPGP000066
PGS developed 1 - PGS evaluated 1
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

eye disease

EFO_0003966
Other disease
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 44 Show Reported Traits

disorder of visual system

MONDO_0024458
Other disease
A disease that involves the visual system. [MONDO: patterns/location]
Associated PGS 44 Show Reported Traits

disease of orbital region

EFO_0009664
Other disease
A disease that involves the orbital region. [MONDO: patterns/location]
Associated PGS 44 Show Reported Traits

head and neck disorder

EFO_0000524
Other disease
A non-neoplastic or neoplastic disorder that affects the anatomic structures of the head and neck region. This category includes inflammatory disorders, benign neoplasms, precancerous conditions, and malignant neoplasms. [ NCI ] | This term had been labelled 'head disease' up until EFO 2.90 where it was then amended to 'head and neck disorder' to better reflect meaningful classification. The old definition is "The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed. E.g Acute Lymphocytic Leukemia".
Associated PGS 51 Show Reported Traits
Marshall HN et al. (2022) - Ophthalmol GlaucomaPMID:35842105doi:10.1016/j.ogla.2022.06.009PGP000588
PGS developed 0 - PGS evaluated 1
MacGregor S et al. (2018) - Nat GenetPMID:30054594doi:10.1038/s41588-018-0176-yPGP000061
PGS developed 1 - PGS evaluated 1
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
Siggs OM et al. (2022) - JAMA OphthalmolPMID:36355370doi:10.1001/jamaophthalmol.2022.4688PGP000403
PGS developed 0 - PGS evaluated 1
He W et al. (2022) - JAMA OphthalmolPMID:35446358doi:10.1001/jamaophthalmol.2022.0891PGP000321
PGS developed 1 - 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
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