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POAG
MCID: GLC092
MIFTS: 64

Glaucoma, Primary Open Angle (POAG)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Glaucoma, Primary Open Angle

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MalaCards integrated aliases for Glaucoma, Primary Open Angle:

Name: Glaucoma, Primary Open Angle 57 73 36 71
Glaucoma 1, Open Angle, E 57 73 28 12 5 71
Primary Open Angle Glaucoma 11 28 53 5 14
Chronic Simple Glaucoma 11 33
Poag 57 73
Adult-Onset Primary Open Angle Glaucoma 73
Coag - [chronic Open-Angle Glaucoma] 33
Poag - [primary Open-Angle Glaucoma] 33
Residual Stage Low Tension Glaucoma 33
Csg - [chronic Simple Glaucoma] 33
Primary Open Angle Glaucoma 1e 73
Chronic Noncongestive Glaucoma 33
Glaucoma, Open Angle, Primary 38
Ltg - [low Tension Glaucoma] 33
Primary Low Tension Glaucoma 33
Oag - [open-Angle Glaucoma] 33
Chronic Open Angle Glaucoma 33
Normal Pressure Glaucoma 33
Nonobstructive Glaucoma 33
Noncongestive Glaucoma 33
Low-Tension Glaucoma 33
Wide-Angle Glaucoma 33
Open Cleft Glaucoma 33
Glaucoma Simplex 33
Chronic Glaucoma 33
Simple Glaucoma 33
Glc1e 73

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 31
ICD11: 33


External Ids:

Disease Ontology 11 DOID:1070
OMIM® 57 137760
ICD9CM 34 365.11
MeSH 43 D005902
NCIt 49 C35394
SNOMED-CT 68 77075001
ICD10 31 H40.1
SNOMED-CT via HPO 69 57190000
ICD11 33 1849071057
UMLS 71 C0339573 C1842026
Sources

Summaries for Glaucoma, Primary Open Angle

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OMIM®: 57 Quigley (1993) reviewed adult-onset primary open angle glaucoma, which combines a particular abnormal appearance of the optic disc (optic nerve head) with a slowly progressive loss of visual sensitivity. Many patients with glaucoma have intraocular pressures above the normal range, although this cannot be considered part of the definition of the disease, since some patients have normal intraocular pressures. Changes in the optic disc, either inherited or acquired, contribute to the development of the disorder, which leads to visual loss from increasing nerve fiber layer atrophy. Quigley et al. (1994) stated that POAG should be reviewed as a multifactorial disorder. (137760) (Updated 08-Dec-2022)

MalaCards based summary: Glaucoma, Primary Open Angle, also known as glaucoma 1, open angle, e, is related to glaucoma 3, primary congenital, a and glaucoma 1, open angle, a. An important gene associated with Glaucoma, Primary Open Angle is OPTN (Optineurin), and among its related pathways/superpathways is Elastic fibre formation. The drugs Timolol and Brinzolamide have been mentioned in the context of this disorder. Affiliated tissues include Eye, bone marrow and retina, and related phenotypes are myopia and open angle glaucoma

UniProtKB/Swiss-Prot 73 Glaucoma, primary open angle: A complex and genetically heterogeneous ocular disorder characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. In some cases, POAG shows digenic inheritance involving mutations in CYP1B1 and MYOC genes.

Glaucoma 1, open angle, e: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place.

Disease Ontology: 11 An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.
Sources

Related Diseases for Glaucoma, Primary Open Angle

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Diseases in the Open-Angle Glaucoma family:

Glaucoma 1, Open Angle, a Glaucoma, Primary Open Angle
Glaucoma 1, Open Angle, P Glaucoma 1, Primary Open Angle, C
Glaucoma 1, Open Angle, D Glaucoma 1, Open Angle, F
Glaucoma 1, Open Angle, B Glaucoma 1, Open Angle, J
Glaucoma 1, Open Angle, K Glaucoma 1, Open Angle, I
Glaucoma 1, Open Angle, G Glaucoma 1, Open Angle, M
Glaucoma 1, Open Angle, N Glaucoma 1, Open Angle, H
Glaucoma 1, Open Angle, O

Diseases related to Glaucoma, Primary Open Angle via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 391)
# Related Disease Score Top Affiliating Genes
1 glaucoma 3, primary congenital, a 33.2 WDR36 OPTN MYOC LTBP2 CYP1B1
2 glaucoma 1, open angle, a 32.9 OPTN MYOC CYP1B1
3 myopia 32.2 TGFB2 SIX6 MYOC LTBP2 CRYAA
4 refractive error 32.0 TGFB2 MYOC CRYAA ABCA4
5 intraocular pressure quantitative trait locus 31.4 WDR36 TMCO1 TGFB2 SIX6 OPTN MYOC
6 open-angle glaucoma 31.4 WDR36 TMCO1 TGFB2 SIX6 OPTN MYOC
7 neovascular glaucoma 31.3 TGFB2 MYOC CRYAA
8 glaucoma, normal tension 31.3 WDR36 TMCO1 SIX6 OPTN MYOC LTBP2
9 steroid-induced glaucoma 31.3 WDR36 TGFB2 OPTN MYOC ELN CYP1B1
10 leber hereditary optic neuropathy, modifier of 31.2 OPTN MYOC CRYAA ABCA4
11 ocular hypertension 31.2 TMCO1 TGFB2 OPTN MYOC CRYAA
12 exfoliation syndrome 31.2 LTBP2 LOXL1 GSTM1 ELN
13 keratitis, hereditary 31.1 OPTN MYOC CYP1B1 CRYAA
14 ocular pigment dispersion with or without glaucoma 31.1 WDR36 TMCO1 SIX6 MYOC LOXL1 CYP1B1
15 primary angle-closure glaucoma 31.1 WDR36 TMCO1 TGFB2 OPTN MYOC LTBP2
16 amyotrophic lateral sclerosis type 12 31.0 OPTN LOC108903148 CRYAA
17 corneal edema 31.0 MYOC LTBP2 CYP1B1
18 amyotrophic lateral sclerosis 12 with or without frontotemporal dementia 31.0 OPTN LOC108903148
19 optic nerve disease 31.0 WDR36 OPTN MYOC ELN CRYAA
20 chronic closed-angle glaucoma 31.0 WDR36 TGFB2 MYOC LOXL1 CRYAA
21 glaucoma 3, primary infantile, b 30.8 LTBP2 CYP1B1
22 primary congenital glaucoma 30.8 WDR36 TMCO1 OPTN MYOC LTBP2 CYP1B1
23 aniridia 1 30.8 MYOC LTBP2 CYP1B1 CRYAA
24 anterior segment dysgenesis 30.7 WDR36 TMCO1 SIX6 MYOC LTBP2 CYP1B1
25 acute closed-angle glaucoma 30.6 WDR36 TMCO1 OPTN MYOC
26 cataract 30.6 TGFB2 SIX6 LOXL1 GSTM1 CRYAA
27 peripheral retinal degeneration 30.6 WDR36 ABCA4
28 juvenile glaucoma 30.4 WDR36 TGFB2 OPTN MYOC LTBP2 LOXL1
29 macular degeneration, age-related, 1 30.4 TGFB2 MYOC ELN CRYAA ABCA4
30 eye disease 30.4 WDR36 TGFB2 SIX6 OPTN MYOC LOXL1
31 glaucoma 1, open angle, f 11.6
32 glaucoma 1, open angle, d 11.6
33 glaucoma 1, open angle, j 11.6
34 glaucoma, hereditary 11.5
35 glaucoma 1, open angle, k 11.4
36 corneal dystrophy, congenital stromal 11.3
37 glaucoma 1, open angle, p 11.2
38 glaucoma 1, open angle, g 11.1
39 glaucoma 1, open angle, o 11.1
40 weill-marchesani syndrome 4 11.0
41 hypertension, essential 10.9
42 3-methylglutaconic aciduria, type iii 10.7
43 senile cataract 10.6
44 neuropathy 10.6
45 alzheimer disease, familial, 1 10.6
46 49, xxxxy syndrome 10.6
47 microvascular complications of diabetes 5 10.6
48 apnea, obstructive sleep 10.5
49 sleep apnea 10.5
50 vascular disease 10.5

Comorbidity relations with Glaucoma, Primary Open Angle via Phenotypic Disease Network (PDN):


Chronic Closed-Angle Glaucoma Hypertension, Essential
Ocular Hypertension Ocular Hypotension
Open-Angle Glaucoma Residual Stage of Open Angle Glaucoma

Graphical network of the top 20 diseases related to Glaucoma, Primary Open Angle:



Diseases related to Glaucoma, Primary Open Angle
Sources

Symptoms & Phenotypes for Glaucoma, Primary Open Angle

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Human phenotypes related to Glaucoma, Primary Open Angle:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myopia 30 HP:0000545
2 open angle glaucoma 30 HP:0012108

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Eyes:
myopia
open angle glaucoma

Misc:
more frequent among african americans

Clinical features from OMIM®:

137760 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Glaucoma, Primary Open Angle:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.32 ABCA4 CRYAA CYP1B1 LOXL1 LTBP2 MYOC
Sources

Drugs & Therapeutics for Glaucoma, Primary Open Angle

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Drugs for Glaucoma, Primary Open Angle (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 153)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Timolol Approved Phase 4 26839-75-8 5478 33624
2
Brinzolamide Approved Phase 4 138890-62-7 68844
3
Mitomycin Approved Phase 4 50-07-7 5746
4
Latanoprost Approved, Investigational Phase 4 130209-82-4 5311221 5282380
5
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
6
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3 3680
7
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 3003 5743
8
Cefuroxime Approved Phase 4 55268-75-2 5479529
9
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
10
Tannic acid Approved Phase 4 1401-55-4 16129878 16129778
11
Travoprost Approved Phase 4 157283-68-6 5282226
12
Dorzolamide Approved Phase 4 120279-96-1 5284549
13 Adrenergic beta-Antagonists Phase 4
14 Adrenergic Antagonists Phase 4
15 Anti-Arrhythmia Agents Phase 4
16 Benzalkonium Compounds Phase 4
17 Anti-Infective Agents Phase 4
18 Anti-Infective Agents, Local Phase 4
19 Antineoplastic Agents, Hormonal Phase 4
20 Hormones Phase 4
21 Hormone Antagonists Phase 4
22 glucocorticoids Phase 4
23 Lubricant Eye Drops Phase 4
24 Anti-Inflammatory Agents Phase 4
25 Blood Substitutes Phase 4
26 Anticoagulants Phase 4
27 Plasma Substitutes Phase 4
28 Dextrans Phase 4
29 Antiemetics Phase 4
30 Gastrointestinal Agents Phase 4
31 Anti-Bacterial Agents Phase 4
32 Alkylating Agents Phase 4
33 Antibiotics, Antitubercular Phase 4
34 Carbonic Anhydrase Inhibitors Phase 4
35 Neurotransmitter Agents Phase 4
36 Adrenergic Agents Phase 4
37 Antihypertensive Agents Phase 4
38
Brimonidine Tartrate Phase 4 70359-46-5
39 Adrenergic alpha-Agonists Phase 4
40 Adrenergic Agonists Phase 4
41 Anesthetics Phase 4
42
Cefuroxime axetil Phase 4 3379942
43 Pharmaceutical Solutions Phase 4
44 Ophthalmic Solutions Phase 4
45
Betaxolol Approved, Investigational Phase 3 659-18-7, 63659-18-7 2369
46
Adenosine Approved, Investigational Phase 3 58-61-7 60961
47
Papaverine Approved, Investigational Phase 2, Phase 3 61-25-6, 58-74-2 4680
48
Dipivefrin Approved Phase 3 52365-63-6 3105
49
Memantine Approved, Investigational Phase 3 41100-52-1, 19982-08-2 4054
50
Dopamine Approved Phase 3 62-31-7, 51-61-6 681

Interventional clinical trials:

(show top 50) (show all 401)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Latanoprost/Timolol Fixed Combination Dosed Twice Daily Compared to Once Daily in Patients With Primary Open Angle Glaucoma Unknown status NCT04098861 Phase 4 Latanoprost/Timolol
2 An 8 Week Comparison of Xalatan (Latanoprost) to Apo-latanoprost and Co-latanoprost in the Treatment of Open Angle Glaucoma Unknown status NCT02792803 Phase 4 Xalatan;Apo-Latanoprost;Co-Latanoprost
3 Phase 4 Study to Evaluate Efficacy And Safety of Three Different Preparations of Latanoprost 0,005% Eyedrops in Subjects Affected by Primary Open Angle Glaucoma Unknown status NCT01580254 Phase 4 IOPIZE© Latanoprost eyedrops;GALAXIA© Latanoprost eyedrops;Latanoprost RATIOPHARM© latanoprost eyedrops
4 Randomized, Multicenter, Open-label, Parallel Group Study to Evaluate Efficacy and Safety of Combigan(Brimonidine/Timolol) and 0.5% Timoptic(Timolol) Ophthalmic Solutions in Normal Tension Glaucoma Patients Unknown status NCT01446497 Phase 4 Brimonidine/Timolol mixed combination;Timolol
5 Post Market Multicentric Evaluation of the AqueSys XEN Implant in Moderate Primary Open Angle Glaucoma Subjects Completed NCT02006693 Phase 4
6 An Open, Non-randomized Pilot Study on the Effect of Preservative Free Tafluprost (Saflutan® Augentropfen) in Patients With Ocular Hypertension or Primary Open Angle Glaucoma With an Uncontrolled Intraocular Pressure of 30 mmHg and More Completed NCT01979913 Phase 4 Saflutan® 15 microgram/ml Augentropfen im Einzeldosisbehältnis
7 Comparison of Brimonidine 0.15% Purite, Dorzolamide 2%, and Brinzolamide 1% as Adjunctive Therapy to Prostaglandin Analogs Completed NCT00675207 Phase 4 Brimonidine purite 0.15%;Dorzolamide 2%;Brinzolamide 1%
8 Multicentric Study to Evaluate the Efficacy and Tolerability of an Innovative Formulation of Benzalkonium Chloride-free Latanoprost in Patients With Primary Open-Angle Glaucoma Completed NCT03331770 Phase 4 Latanoprost Ophthalmic Product
9 Changes in Peripapillary Blood Flow After Use of Anti-glaucoma Medications: A Prospective, Quantitative OCT Angiography Study Completed NCT03323164 Phase 4 Timolol Maleate;Brimonidine Tartrate
10 Efficacy and Tolerability of Preservative-free 0.0015% Tafluprost in Glaucoma Patients Completed NCT03104621 Phase 4 Benzalkonium chloride (BAK);0.0015% tafluprost
11 Ocular Surface Conditions in Asian Glaucoma Patients With Existing Corneal Disorders Switching From Preserved Prostaglandin Analogues Monotherapy to Preservative-free Tafluprost Completed NCT04654611 Phase 4 preservative free tafluprost 0.0015%
12 Safety and Efficacy Assessment of Monoprost® in Comparison With Lumigan® 0.01% and Lumigan® 0.03% Unit Dose, in Patients With Primary Open Angle Glaucoma or Ocular Hypertension, Stabilized by Lumigan® 0.01% With Ocular Surface Intolerance Completed NCT02017327 Phase 4 Monoprost;Lumigan 0.01%;Lumigan 0.03% Unit Dose
13 Efficacy and Safety of Timolol Maleate 0.5% Compared to Brinzolamide 1% When Added to Travoprost 0.004% in Primary Open-angle Glaucoma or Ocular Hypertension Completed NCT00372827 Phase 4 Brinzolamide 1% added to Travoprost 0.004%
14 24-Hour Intraocular Pressure (IOP) And Blood Pressure Control In Glaucoma And Ocular Hypertension Patients Completed NCT00330577 Phase 4 timolol maleate 0.5%;latanoprost/timolol fixed combination;placebo (artificial tears)
15 A Multiple-Dose Study of the IOP-Lowering Efficacy of Azopt 1.0% Compared to Timolol 0.5% When Added to a PGA as Adjunctive Therapy Over a 24 Hour Period in Patients With Glaucoma or Ocular Hypertension Completed NCT00300079 Phase 4 brinzolamide 1.0%
16 Health-Related Quality of Life in Two Pathways for Newly Diagnosed Open Angle Glaucoma and Ocular Hypertension: an Unmasked, Multi-centre, Randomised Controlled Trial of Initial Selective Laser Trabeculoplasty Versus Medical Therapy Completed NCT03395535 Phase 4 Primary Medical Treatment Pathway
17 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medication Treated With One Suprachoroidal Stent Completed NCT01252914 Phase 4
18 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252888 Phase 4
19 A Prospective Evaluation of Open-angle Glaucoma Subjects on One Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252862 Phase 4
20 Comparative Evaluation of Intraocular Pressure During the 24 Hour in Patients Affected by Primary Open-angle Glaucoma and Ocular Hypertension: Latanoprost 0.005% Versus Tafluprost 0.0015% Ophthalmic Solutions Completed NCT01162603 Phase 4 TAFLUPROST 0.0015% EYEDROPS;LATANOPROST 0.005% EYEDROPS
21 Phase 4 Study to Evaluate Efficacy And Safety of Pneumatic Trabeculoplasty (PNT) in Subjects Affected by Primary Open Angle Glaucoma Completed NCT01540331 Phase 4
22 Phase IV Randomised Double-masked Clinical Trial: Assessing Morning Versus Evening Dosing of a Fixed Dose Combination of Travoprost 0.004% / Timolol Maleate 0.5% in Patients With Primary Open-angle Glaucoma or Ocular Hypertension Completed NCT00759239 Phase 4 Travoprost 0.004% / Timolol maleate 0.5%
23 A Single Dose Comfort Comparison of Travatan Z in One Eye Versus Xalatan in the Opposite Eye in Patients With Primary Open-Angle Glaucoma or Ocular Hypertension Completed NCT00527592 Phase 4 Travoprost ophthalmic solution 0.004% with SofZia® preservative system (TRAVATAN Z®);Latanoprost ophthalmic solution 0.005% (XALATAN®)
24 A Crossover, Double-Masked Comparison Investigating the 24-Hour Intraocular Pressure Control With the Travoprost/Timolol Fixed Combination Versus Travoprost, When Both Are Given in the Evening, in Subjects With Primary Open-Angle Glaucoma Completed NCT00444184 Phase 4 Travoprost/timolol fixed combination, travoprost
25 Blood-aqueous Barrier Changes After the Use of Timolol and Prostaglandin Analogues Fixed Combination in Pseudophakic Patients With Primary Open Angle Glaucoma Completed NCT01978015 Phase 4 travoprost and timolol maleate fixed combination;latanoprost and maleate timolol fixed combination;bimatoprost and timolol maleate fixed combination;dextran and hypromellose
26 Randomized Crossover Trial Comparing the Hypotensive Effect of Generic Travoprost With That of the Brand Name Travoprost in Patients With Primary Open Angle Glaucoma or Ocular Hypertension Completed NCT02796560 Phase 4 Brand name travoprost;Generic travoprost
27 A Study of Bimatoprost in the Treatment of Primary Open Angle Glaucoma and Ocular Hypertension Completed NCT02061683 Phase 4 Bimatoprost 0.03%
28 A Study of 0.03% Bimatoprost in the Treatment of Primary Open Angle Glaucoma and Ocular Hypertension Completed NCT02020512 Phase 4 0.03% Bimatoprost
29 A Study of 0.15% Brimonidine Tartrate in Patients With Primary Open Angle Glaucoma and Ocular Hypertension Completed NCT02003534 Phase 4 0.15% Brimonidine Tartrate
30 Quality of 24-hour Intraocular Pressure Control Obtained With Dorzolamide/Timolol Fixed Combination (DTFC) Compared With the Brimonidine/Timolol Fixed Combination (BTFC) in Subjects With Primary Open-angle Glaucoma Completed NCT00972257 Phase 4 treatment with dorzolamide/timolol;treatment with brimonidine/timolol
31 A Prospective, Unmasked Evaluation of the iStent in Patients With Primary Open-Angle Glaucoma Completed NCT00911924 Phase 4
32 An Open, Non-randomized Study on the Effect of Changing From Preserved Prostaglandin Formulations to Preservative Free Tafluprost (Saflutan® Augentropfen) in Patients With Ocular Hypertension or Primary Open Angle Glaucoma on Tear Film Thickness Completed NCT03204487 Phase 4 Tafluprost 15µg/ml
33 Efficacy Of The Bimatoprost/Timolol Fixed Combination In Patients Treated With Bimatoprost for Primary Open Angle Glaucoma, Exfoliation Glaucoma or Ocular Hypertension. Completed NCT00941096 Phase 4 Bimatoprost and Bimatoprost/Timolol fixed combination.
34 A Randomized Post-Marketing Efficacy And Safety Study Of Xalatan Compared With "Usual Care" Over 36 Months In Patients With Primary Open-Angle Glaucoma, Exfoliative Glaucoma Or Ocular Hypertension Completed NCT00140062 Phase 4 latanoprost 0.005% (Xalatan)
35 A Safety and Efficacy Study of Bimatoprost 0.01% in Primary Open-Angle Glaucoma (POAG) or Ocular Hypertension (OH) Completed NCT01594970 Phase 4 Bimatoprost 0.01%
36 A Prospective, Unmasked, Randomized Evaluation of the iStent Versus Two Ocular Hypotensive Agents in Patients With Primary Open-Angle Glaucoma Completed NCT00913029 Phase 4 latanoprost/timolol
37 The Efficacy and Safety of Travoprost, 0.004% Versus Tafluprost, 0.0015% in Primary Open-Angle Glaucoma or Ocular Hypertensive Patients Completed NCT00966940 Phase 4 Travoprost 0.004% ophthalmic solution (TRAVATAN);Tafluprost 0.0015% ophthalmic solution
38 Choroidal Thickness and Its Correlations With Ocular Parameters in Cases With Primary Open-angle Glaucoma Completed NCT03966560 Phase 4 Brimonidine Tartrate;Dorzolamide (as Dorzolamide Hydrochloride) 20 Mg/mL and Timolol (as Timolol Maleate) 5 Mg/mL Eye Drops;Brinzolamide/Timolol 10 MG/1 ML-5 MG/1 ML Ophthalmic Suspension;Travoprost and Timolol;Bimatoprost and Timolol;Latanoprost
39 A 12-Month, Phase 4, Open Label, Multicenter, Trial to Assess the Efficacy and Safety of COMBIGAN® in Korean Patients With Primary Open Angle Glaucoma (POAG) and Normal Tension Glaucoma (NTG) Completed NCT02863705 Phase 4 brimonidine tartrate/timolol malate Ophthalmic Solution;bimatoprost ophthalmic solution 0.01%
40 The Effect of Topical Brimonidine on the Hemodynamics of the Optic Nerve Head and Retinochoroidal Circulation in Patients of Primary Open Angle Glaucoma Using Optical Coherence Tomography Angiography Completed NCT05474716 Phase 4 Brimonidine tartrate 0.2% ophthalmic solution
41 A Study of LUMIGAN® RC in the Clinical Setting Completed NCT01833741 Phase 4 Bimatoprost 0.01%
42 Randomized, Controlled Treatment With an Intracanalicular Dexamethasone (0.4mg) Insert Following Cataract Surgery With IOL Combined With MIGS, Specifically iStent, iStent Inject or KDB in Patients With POAG or Ocular Hypertension (OHTN) Completed NCT04465864 Phase 4 Intracanalicular Dexamethasone, 0.4 mg insert
43 Investigation of the Effect of Travoprost Ophthalmic Solution of Lowering Intraocular Pressure in Patients With Normal Tension Glaucoma Completed NCT01995136 Phase 4 Travoprost Ophthalmic Solution 0.004%
44 A 6-week, Double Masked, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Twice-daily Brinzolamide 1%/Brimonidine 0.2% Fixed Dose Combination as an Adjunctive Therapy to Travoprost 0.004% in Reducing Intraocular Pressure in Patients With Normal Tension Glaucoma Completed NCT03150160 Phase 4 brinzolamide 1%/brimonidine 0.2% fixed combination;Placebo;travoprost 0.004% ophthalmic solution
45 Evaluation Of Intraocular Pressure Lowering-Effect Of Xalacom (Fixed Combination Of Latanoprost And Timolol) In Patients With Poag Or Oh. A 6-Month, Open, Multi-Center Trial In Italy Completed NCT00143208 Phase 4 Xalacom
46 Safety and Efficacy Study in NTG, POAG, Glaucoma Suspect, Ocular Hypertension Patients With Diagnosed Prostaglandin Associated Peri-orbitopathy Switching From Preserved Prostaglandin Analogues Monotherapy to Omidenepag Isopropyl Recruiting NCT05279716 Phase 4 Eybelis ophthalmic solution 0.002%
47 Phase IV Clinical Study to Compare the Efficacy of the Krytantek Ofteno PF® Plus Gaap Ofteno PF® Combination to the Krytantek Ofteno PF® Plus Gaap Ofteno PF® Combination, in Primary Open Angle Glaucoma or Ocular Hypertension Patients. Recruiting NCT04702789 Phase 4 Dorzolamide-timolol-brimonidine and latanoprost;Dorzolamide-timolol and latanoprost
48 Comparison of Preserved and Preservative-free Latanoprost 0.005% in Primary Open Angle Glaucoma and Ocular Hypertensive Patients, at Guinness Eye Centre, Lagos. Recruiting NCT05606796 Phase 4 Latanoprost 0.005% Ophthalmic Solution
49 A Prospective Randomized Clinical Trial Comparing Three Delivery Methods of Mitomycin-C for Trabeculectomy Surgery: Preoperative Subconjunctival Injection, Intraoperative Subconjunctival Injection, and Topical Application (Conventional Use) During Trabeculectomy Surgery Recruiting NCT03875911 Phase 4 Mitomycin C
50 The Effect of Lumify™ (Brimonidine Tartrate Ophthalmic Solution 0.025%) on Ocular Redness, Intraocular Pressure, and Eyelid Position in Glaucoma Patients Using Brimonidine 0.2%, 0.15%, or 0.1% Not yet recruiting NCT04007276 Phase 4 brimonidine tartrate ophthalmic solution 0.025%

Search NIH Clinical Center for Glaucoma, Primary Open Angle

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Glaucoma, Primary Open Angle cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Glaucoma, Primary Open Angle:
Renexus (NT-501), CNTF-secreting cells for treatment of retinal diseases
Embryonic/Adult Cultured Cells Related to Glaucoma, Primary Open Angle:
Human retinal stem cells secreting CNTF PMIDs: 16805711 17508034 16505355 23049090 15684670 12581701 15223826 18830926
Sources

Genetic Tests for Glaucoma, Primary Open Angle

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Genetic tests related to Glaucoma, Primary Open Angle:

# Genetic test Affiliating Genes
1 Primary Open Angle Glaucoma 28 OPTN
2 Primary Open Angle Glaucoma (adult Onset) 28
3 Glaucoma 1, Open Angle, E 28
Sources

Anatomical Context for Glaucoma, Primary Open Angle

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Organs/tissues related to Glaucoma, Primary Open Angle:

MalaCards : Eye, Bone Marrow, Retina, Brain, Endothelial, Bone, Cortex
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Glaucoma, Primary Open Angle:
# Tissue Anatomical CompartmentCell Relevance
1 Eye Ganglion Cell Layer Mature Ganglion Cells Affected by disease
Sources

Publications for Glaucoma, Primary Open Angle

About this section

Articles related to Glaucoma, Primary Open Angle:

(show top 50) (show all 10621)
# Title Authors PMID Year
1
Adult-onset primary open-angle glaucoma caused by mutations in optineurin. 62 57 5
11834836 2002
2
Variable clinical spectrum of the myocilin Gln368X mutation in a Dutch family with primary open angle glaucoma. 53 62 5
20021252 2010
3
Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma. 62 5
27896285 2016
4
Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma. 62 5
23304066 2012
5
Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma. 62 5
22933836 2012
6
Mutations of optineurin in amyotrophic lateral sclerosis. 62 5
20428114 2010
7
Lack of association between optineurin gene variants T34T, E50K, M98K, 691_692insAG and R545Q and primary open angle glaucoma in Brazilian patients. 62 5
19172505 2009
8
Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma. 62 5
17615537 2007
9
Myocilin variants in Indian patients with open-angle glaucoma. 62 5
17562996 2007
10
Altered nitric oxide system in patients with open-angle glaucoma. 62 57
17420369 2007
11
Effects of TGF-beta2, BMP-4, and gremlin in the trabecular meshwork: implications for glaucoma. 62 57
17325163 2007
12
Variation in optineurin (OPTN) allele frequencies between and within populations. 62 5
17293779 2007
13
Systemic reduction in glutathione levels occurs in patients with primary open-angle glaucoma. 62 57
15728543 2005
14
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. 62 5
15342693 2004
15
Reduction of posterior pole retinal thickness in glaucoma detected using the Retinal Thickness Analyzer. 62 57
15019374 2004
16
Heritability of risk factors for primary open-angle glaucoma: the Beaver Dam Eye Study. 62 57
14691154 2004
17
Effects of TGF-beta2 in perfused human eyes. 62 57
14691167 2004
18
Oxidative stress markers in aqueous humor of glaucoma patients. 62 57
14700645 2004
19
Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation. 62 5
12872267 2003
20
A genome-wide scan for primary open-angle glaucoma (POAG): the Barbados Family Study of Open-Angle Glaucoma. 62 57
12616399 2003
21
Founder TIGR/myocilin mutations for glaucoma in the Québec population. 62 5
12189160 2002
22
MYOC mutation frequency in primary open-angle glaucoma patients from Western Switzerland. 62 5
11803488 2001
23
Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier. 62 5
11535458 2001
24
T cell subsets and sIL-2R/IL-2 levels in patients with glaucoma. 62 57
11292402 2001
25
Absence of trabecular meshwork-inducible stretch response (TISR)/oculomedin gene and proximal promoter mutation in primary open angle glaucoma patients. 62 57
11129344 2000
26
Myocilin Gln368stop mutation and advanced age as risk factors for late-onset primary open-angle glaucoma. 62 5
10815160 2000
27
Genome-wide scan for adult onset primary open angle glaucoma. 62 57
10767336 2000
28
Adult-onset primary open angle glaucoma does not localize to chromosome 2cen-q13 in North American families. 62 57
9748694 1998
29
A novel mutation in the GLC1A gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia. 62 5
9639450 1998
30
Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region. 62 57
9497264 1998
31
Identification of a gene that causes primary open angle glaucoma. 62 5
9005853 1997
32
Models of open-angle glaucoma prevalence and incidence in the United States. 62 57
9008633 1997
33
Recent advances in molecular genetics of glaucomas. 62 57
9300658 1997
34
The distinction between juvenile and adult-onset primary open-angle glaucoma. 62 57
8554064 1996
35
Genetic defect in cortisol metabolism in primary open angle glaucoma. 62 57
3842204 1985
36
Racial differences in intraocular tension and glaucoma surgery. 62 57
7387780 1980
37
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database. 5
32579787 2020
38
Comprehensive analysis of the mutation spectrum in 301 German ALS families. 5
29650794 2018
39
Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report. 5
29558868 2018
40
OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes. 5
26740678 2016
41
Extracellular matrix in the trabecular meshwork: intraocular pressure regulation and dysregulation in glaucoma. 57
25819459 2015
42
Prevention of nocturnal elevation of intraocular pressure by gene transfer of dominant-negative RhoA in rats. 57
25412195 2015
43
Cellular processing of myocilin. 5
24732711 2014
44
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. 57
21532571 2011
45
Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. 5
18470941 2008
46
Prostaglandins increase trabecular meshwork outflow facility in cultured human anterior segments. 57
17988642 2008
47
Heterozygous expression of myocilin glaucoma mutants increases secretion of the mutant forms and reduces extracellular processed myocilin. 5
19023451 2008
48
Global changes in optic nerve head gene expression after exposure to elevated intraocular pressure in a rat glaucoma model. 57
17591886 2007
49
Presence of an established calcification marker in trabecular meshwork tissue of glaucoma donors. 57
17591888 2007
50
Heritable features of the optic disc: a novel twin method for determining genetic significance. 57
17525172 2007
Sources

Variations for Glaucoma, Primary Open Angle

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ClinVar genetic disease variations for Glaucoma, Primary Open Angle:

5 (show top 50) (show all 268)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC108903148, OPTN NM_001008212.2(OPTN):c.148G>A (p.Glu50Lys) SNV Pathogenic
 7096 rs28939688 GRCh37: 10:13151270-13151270
GRCh38: 10:13109270-13109270
2 MYOC NM_000261.2(MYOC):c.1111T>C (p.Tyr371His) SNV Pathogenic
 242274 rs878854408 GRCh37: 1:171605469-171605469
GRCh38: 1:171636329-171636329
3 OPTN and overlap with 2 gene(s) NC_000010.11:g.(?_13109103)_(13136886_?)del DEL Pathogenic
 529764 GRCh37: 10:13151103-13178886
GRCh38: 10:13109103-13136886
4 overlap with 5 genes NC_000010.11:g.(?_13109123)_(13183100_?)del DEL Pathogenic
 583651 GRCh37: 10:13151123-13225100
GRCh38: 10:13109123-13183100
5 overlap with 3 genes NC_000010.10:g.(?_12833157)_(13178866_?)del DEL Pathogenic
 584050 GRCh37: 10:12833157-13178866
GRCh38:
6 OPTN NC_000010.11:g.(?_13116257)_(13116350_?)del DEL Pathogenic
 831344 GRCh37: 10:13158257-13158350
GRCh38:
7 OPTN NC_000010.11:g.(?_13109113)_(13112645_?)del DEL Pathogenic
 832940 GRCh37: 10:13151113-13154645
GRCh38:
8 LOC108903148, OPTN NM_001008212.2(OPTN):c.127C>T (p.Gln43Ter) SNV Pathogenic
 489125 rs934287314 GRCh37: 10:13151249-13151249
GRCh38: 10:13109249-13109249
9 OPTN NM_001008212.2(OPTN):c.1241_1242del (p.Glu414fs) MICROSAT Pathogenic
 1409027 GRCh37: 10:13168036-13168037
GRCh38: 10:13126036-13126037
10 OPTN NC_000010.10:g.13164383_13164384del MICROSAT Pathogenic
 1384838 GRCh37: 10:13164383-13164384
GRCh38: 10:13122383-13122384
11 OPTN NC_000010.10:g.(?_13151123)_(13178866_?)del DEL Pathogenic
 1425874 GRCh37: 10:13151123-13178866
GRCh38:
12 OPTN NC_000010.10:g.(?_13152254)_(13161060_?)del DEL Pathogenic
 1459834 GRCh37: 10:13152254-13161060
GRCh38:
13 OPTN NC_000010.10:g.(?_13158247)_(13158360_?)del DEL Pathogenic
 1459219 GRCh37: 10:13158247-13158360
GRCh38:
14 OPTN NM_001008212.2(OPTN):c.986_990del (p.Arg329fs) DEL Pathogenic
 1451918 GRCh37: 10:13166098-13166102
GRCh38: 10:13124098-13124102
15 LOC108903148, OPTN NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs) DUP Pathogenic
 576203 rs1564354968 GRCh37: 10:13151279-13151280
GRCh38: 10:13109279-13109280
16 OPTN NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter) SNV Pathogenic
Benign
 631627 rs140599944 GRCh37: 10:13154486-13154486
GRCh38: 10:13112486-13112486
17 OPTN NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) SNV Pathogenic
Conflicting Interpretations Of Pathogenicity
Benign
 7098 rs75654767 GRCh37: 10:13178766-13178766
GRCh38: 10:13136766-13136766
18 OPTN NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs) INSERT Pathogenic
Pathogenic
 647662 rs774258585 GRCh37: 10:13154464-13154465
GRCh38: 10:13112464-13112465
19 LOC108903148, OPTN NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) SNV Pathogenic
Benign/Likely Benign
Benign
 7099 rs11258194 GRCh37: 10:13152400-13152400
GRCh38: 10:13110400-13110400
20 CYP1B1 NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn) SNV Pathogenic
 7744 rs9282671 GRCh37: 2:38302291-38302291
GRCh38: 2:38075148-38075148
21 LOC108903148, OPTN NM_001008212.2(OPTN):c.76del (p.His26fs) DEL Pathogenic
 873264 rs753966040 GRCh37: 10:13151192-13151192
GRCh38: 10:13109192-13109192
22 OPTN NM_001008212.2(OPTN):c.785C>A (p.Ser262Ter) SNV Pathogenic
 1455344 rs750571210 GRCh37: 10:13164390-13164390
GRCh38: 10:13122390-13122390
23 MYOC NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) SNV Likely Pathogenic
 7949 rs74315329 GRCh37: 1:171605478-171605478
GRCh38: 1:171636338-171636338
24 OPTN NM_001008212.2(OPTN):c.626+1G>A SNV Likely Pathogenic
 632055 rs756957223 GRCh37: 10:13158341-13158341
GRCh38: 10:13116341-13116341
25 OPTN NM_001008212.2(OPTN):c.780-1G>C SNV Likely Pathogenic
 1486689 GRCh37: 10:13164384-13164384
GRCh38: 10:13122384-13122384
26 OPTN NM_001008212.2(OPTN):c.370-1G>A SNV Likely Pathogenic
 1478014 GRCh37: 10:13154452-13154452
GRCh38: 10:13112452-13112452
27 OPTN NM_001008212.2(OPTN):c.1401+1G>A SNV Likely Pathogenic
 1066711 GRCh37: 10:13169904-13169904
GRCh38: 10:13127904-13127904
28 MYOC NM_000261.2(MYOC):c.1138G>T (p.Asp380Tyr) SNV Likely Pathogenic
 1342965 GRCh37: 1:171605442-171605442
GRCh38: 1:171636302-171636302
29 CARD10 NM_014550.4(CARD10):c.1210C>T (p.Arg404Trp) SNV Risk Factor
 224915 rs750643216 GRCh37: 22:37902372-37902372
GRCh38: 22:37506365-37506365
30 CARD10 NM_014550.4(CARD10):c.635G>A (p.Arg212His) SNV Risk Factor
 224912 rs1057519378 GRCh37: 22:37912044-37912044
GRCh38: 22:37516037-37516037
31 CARD10 NM_014550.4(CARD10):c.2485C>T (p.Arg829Trp) SNV Risk Factor
 224916 rs201794655 GRCh37: 22:37888801-37888801
GRCh38: 22:37492794-37492794
32 CARD10 NM_014550.4(CARD10):c.983C>T (p.Ala328Val) SNV Risk Factor
 224913 rs139006752 GRCh37: 22:37904616-37904616
GRCh38: 22:37508609-37508609
33 CARD10 NM_014550.4(CARD10):c.1024G>A (p.Val342Met) SNV Risk Factor
 224914 rs200148764 GRCh37: 22:37904575-37904575
GRCh38: 22:37508568-37508568
34 LTBP2 NM_000428.3(LTBP2):c.4912G>A (p.Val1638Met) SNV Likely Pathogenic
 126958 rs137854860 GRCh37: 14:74969614-74969614
GRCh38: 14:74502911-74502911
35 LTBP2 NM_000428.3(LTBP2):c.1484G>A (p.Arg495Gln) SNV Likely Pathogenic
 126950 rs137854858 GRCh37: 14:75017969-75017969
GRCh38: 14:74551266-74551266
36 LTBP2 NM_000428.3(LTBP2):c.3571G>A (p.Glu1191Lys) SNV Likely Pathogenic
 126954 rs137854862 GRCh37: 14:74975388-74975388
GRCh38: 14:74508685-74508685
37 LTBP2 NM_000428.3(LTBP2):c.4250A>G (p.Gln1417Arg) SNV Likely Pathogenic
 126955 rs137854863 GRCh37: 14:74971805-74971805
GRCh38: 14:74505102-74505102
38 LTBP2 NM_000428.3(LTBP2):c.4356G>A (p.Pro1452=) SNV Uncertain Significance
 126956 rs137854865 GRCh37: 14:74971699-74971699
GRCh38: 14:74504996-74504996
39 MYOC NM_000261.2(MYOC):c.284T>C (p.Leu95Pro) SNV Uncertain Significance
 1342195 GRCh37: 1:171621468-171621468
GRCh38: 1:171652328-171652328
40 MYOC NM_000261.2(MYOC):c.1079T>A (p.Ile360Asn) SNV Uncertain Significance
 1342200 GRCh37: 1:171605501-171605501
GRCh38: 1:171636361-171636361
41 MYOC NM_000261.2(MYOC):c.1119G>A (p.Trp373Ter) SNV Uncertain Significance
 1342201 GRCh37: 1:171605461-171605461
GRCh38: 1:171636321-171636321
42 MYOC NM_000261.2(MYOC):c.1300G>A (p.Gly434Ser) SNV Uncertain Significance
 1342206 GRCh37: 1:171605280-171605280
GRCh38: 1:171636140-171636140
43 MYOC NM_000261.2(MYOC):c.1412A>G (p.Tyr471Cys) SNV Uncertain Significance
 1342207 GRCh37: 1:171605168-171605168
GRCh38: 1:171636028-171636028
44 MYOC NM_000261.2(MYOC):c.608C>T (p.Ser203Phe) SNV Uncertain Significance
 1342208 GRCh37: 1:171607859-171607859
GRCh38: 1:171638719-171638719
45 MYOC NM_000261.2(MYOC):c.731G>T (p.Gly244Val) SNV Uncertain Significance
 1342209 GRCh37: 1:171605849-171605849
GRCh38: 1:171636709-171636709
46 OPTN NM_001008212.2(OPTN):c.1613G>A (p.Gly538Glu) SNV Uncertain Significance
 940858 rs967459877 GRCh37: 10:13178745-13178745
GRCh38: 10:13136745-13136745
47 OPTN NM_001008212.2(OPTN):c.754G>C (p.Val252Leu) SNV Uncertain Significance
 962957 rs760339006 GRCh37: 10:13161015-13161015
GRCh38: 10:13119015-13119015
48 OPTN NM_001008212.2(OPTN):c.950A>G (p.His317Arg) SNV Uncertain Significance
 1017441 rs747365111 GRCh37: 10:13166062-13166062
GRCh38: 10:13124062-13124062
49 OPTN NM_001008212.2(OPTN):c.1174A>G (p.Thr392Ala) SNV Uncertain Significance
 1019966 rs751226367 GRCh37: 10:13167971-13167971
GRCh38: 10:13125971-13125971
50 OPTN NM_001008212.2(OPTN):c.811C>T (p.Arg271Cys) SNV Uncertain Significance
 1042597 rs540943401 GRCh37: 10:13164416-13164416
GRCh38: 10:13122416-13122416

UniProtKB/Swiss-Prot genetic disease variations for Glaucoma, Primary Open Angle:

73
# Symbol AA change Variation ID SNP ID
1 OPTN p.His26Asp VAR_021537 rs200710076
2 OPTN p.Glu50Lys VAR_021538 rs28939688
3 OPTN p.Glu103Asp VAR_021540 rs1346865805
4 OPTN p.His486Arg VAR_021546 rs373425395

Sources

Expression for Glaucoma, Primary Open Angle

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Search GEO for disease gene expression data for Glaucoma, Primary Open Angle.
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Pathways for Glaucoma, Primary Open Angle

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Pathways directly related to Glaucoma, Primary Open Angle:

# Pathway Source
1 Defective CYP1B1 causes Glaucoma Reactome 66

Pathways related to Glaucoma, Primary Open Angle according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Elastic fibre formation 66
Show member pathways
 10.83 TGFB2 LTBP2 LOXL1 ELN
Sources

GO Terms for Glaucoma, Primary Open Angle

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Cellular components related to Glaucoma, Primary Open Angle according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.4 TGFB2 MYOC LTBP2 LOXL1 ELN COCH

Biological processes related to Glaucoma, Primary Open Angle according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.5 WDR36 SIX6 CRYAA ABCA4
2 collagen fibril organization GO:0030199 9.1 TGFB2 LOXL1 CYP1B1
Sources

Sources for Glaucoma, Primary Open Angle

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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