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POAG
MCID: GLC092
MIFTS: 62

Glaucoma, Primary Open Angle (POAG)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Glaucoma, Primary Open Angle

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MalaCards integrated aliases for Glaucoma, Primary Open Angle:

Name: Glaucoma, Primary Open Angle 56 73 37 71
Primary Open Angle Glaucoma 12 36 29 54 6 15
Glaucoma 1, Open Angle, E 56 73 29 13 6 71
Poag 56 73
Adult-Onset Primary Open Angle Glaucoma 73
Primary Open Angle Glaucoma 1e 73
Glaucoma, Open Angle, Primary 39
Chronic Simple Glaucoma 12
Glc1e 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
glaucoma, primary open angle:
Inheritance autosomal dominant inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:1070
OMIM 56 137760
KEGG 36 H00612
ICD9CM 34 365.11
MeSH 43 D005902
NCIt 49 C35394
SNOMED-CT 67 77075001
ICD10 32 H40.11
SNOMED-CT via HPO 68 263681008 57190000
UMLS 71 C0339573 C1842026
Sources

Summaries for Glaucoma, Primary Open Angle

About this section
UniProtKB/Swiss-Prot : 73 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.
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.

MalaCards based summary : Glaucoma, Primary Open Angle, also known as primary open angle glaucoma, is related to early-onset glaucoma and glaucoma 3, primary congenital, a. An important gene associated with Glaucoma, Primary Open Angle is OPTN (Optineurin), and among its related pathways/superpathways are Ribosome biogenesis in eukaryotes and Elastic fibre formation. The drugs Bimatoprost and Tobramycin have been mentioned in the context of this disorder. Affiliated tissues include Eye, testes and endothelial, and related phenotypes are myopia and open angle glaucoma

Disease Ontology : 12 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.

OMIM : 56 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)

KEGG : 36 Primary open angle glaucoma (POAG) is the most prevalent form of glaucoma, and a major cause of irreversible blindness. POAG is often accompanied by ocular hypertension and characterized by progressive loss of retinal ganglion cells, atrophy of the optic nerve, and visual field loss. To date, at least 20 genetic loci for POAG have been reported. And four causative genes (CYP1B1, MYOC, OPTN, and WDR36) are identified from these loci. In addition, recently, heterozygous NTF4 mutation was associated with the phenotype in a small percentage of patients.

Sources

Related Diseases for Glaucoma, Primary Open Angle

About this section

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 267)
# Related Disease Score Top Affiliating Genes
1 early-onset glaucoma 33.9 MYOC CYP1B1
2 glaucoma 3, primary congenital, a 33.7 WDR36 OPTN MYOC CYP1B1
3 glaucoma 1, open angle, a 33.7 OPTN MYOC CYP1B1
4 open-angle glaucoma 32.1 WDR36 TMCO1 TGFB2 SIX6 OPTN MYOC
5 yemenite deaf-blind hypopigmentation syndrome 31.6 RHO OPTN ABCA4
6 intraocular pressure quantitative trait locus 31.6 WDR36 TMCO1 TGFB2 SERPINA3 OPTN MYOC
7 eye disease 31.5 TGFB2 SERPINA3 RHO OPTN MYOC LOXL1
8 chronic closed-angle glaucoma 31.3 TGFB2 MYOC LOXL1
9 macular degeneration, age-related, 1 31.3 TGFB2 SERPINA3 RHO MYOC ELN CRYAA
10 leber optic atrophy 31.3 WDR36 MYOC CRYAA ABCA4
11 primary angle-closure glaucoma 31.3 OPTN MYOC CYP1B1
12 microvascular complications of diabetes 5 31.2 TGFB2 RHO CRYAA
13 ocular hypertension 31.2 WDR36 TMCO1 TGFB2 RHO OPTN MYOC
14 exfoliation syndrome 31.2 SERPINA3 LOXL1 GSTM1 ELN
15 steroid-induced glaucoma 31.1 WDR36 TGFB2 SERPINA3 OPTN MYOC CRYAA
16 corneal disease 31.1 TGFB2 SERPINA3 CRYAA
17 color blindness 31.1 RHO CRYAA ABCA4
18 keratitis, hereditary 31.1 MYOC CYP1B1 CRYAA
19 glaucoma-related pigment dispersion syndrome 31.0 WDR36 TMCO1 OPTN MYOC LOXL1 CYP1B1
20 optic nerve disease 31.0 WDR36 SERPINA3 OPTN MYOC ELN CRYAA
21 myopia 31.0 WDR36 TGFB2 SIX6 RHO MYOC CRYAA
22 primary congenital glaucoma 31.0 WDR36 SRBD1 OPTN MYOC LOXL1 CYP1B1
23 juvenile glaucoma 30.8 WDR36 OPTN MYOC LOXL1 CYP1B1 CRYAA
24 pathologic nystagmus 30.8 SIX6 RHO CRYAA ABCA4
25 retinal disease 30.7 RHO OPTN MYOC CRYAA ABCA4
26 optic nerve hypoplasia, bilateral 30.7 TMCO1 SRBD1 SIX6 RHO MYOC ABCA4
27 acute closed-angle glaucoma 30.6 OPTN MYOC
28 exudative vitreoretinopathy 1 30.6 RHO MYOC CRYAA
29 cataract 30.6 TGFB2 SIX6 RHO LOXL1 GSTM1 CRYAA
30 glaucoma, normal tension 30.4 WDR36 TMCO1 SRBD1 SIX6 OPTN MYOC
31 glaucoma 1, primary open angle, c 12.1
32 glaucoma 1, open angle, f 11.9
33 glaucoma 1, open angle, j 11.9
34 glaucoma 1, open angle, d 11.8
35 glaucoma 1, open angle, k 11.8
36 glaucoma 1, open angle, g 11.7
37 glaucoma 1, open angle, p 11.5
38 glaucoma 1, open angle, o 11.3
39 refractive error 10.8
40 excessive tearing 10.7 WDR36 MYOC CYP1B1
41 hydrophthalmos 10.6 WDR36 MYOC CYP1B1
42 microphthalmia, isolated 2 10.6 WDR36 MYOC CYP1B1
43 stargardt macular degeneration 10.6 RHO ABCA4
44 traumatic glaucoma 10.6 MYOC CYP1B1
45 axenfeld-rieger syndrome, type 2 10.6 WDR36 ASB10
46 phimosis 10.6 ELN CYP1B1 CRYAA
47 solar retinopathy 10.6 RHO ABCA4
48 morgagni cataract 10.6 LOXL1 CRYAA
49 anterior segment dysgenesis 10.6 MYOC CYP1B1 CRYAA
50 vitreous disease 10.6 TGFB2 RHO CRYAA

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

About this section

Human phenotypes related to Glaucoma, Primary Open Angle:

31
# Description HPO Frequency HPO Source Accession
1 myopia 31 HP:0000545
2 open angle glaucoma 31 HP:0012108

Symptoms via clinical synopsis from OMIM:

56
Eyes:
myopia
open angle glaucoma

Misc:
more frequent among african americans

Clinical features from OMIM:

137760

MGI Mouse Phenotypes related to Glaucoma, Primary Open Angle:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.23 ABCA4 CYP1B1 LOXL1 MYOC RHO SIX6
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 167)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
2
Tobramycin Approved, Investigational Phase 4 32986-56-4 36294 5496
3
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
4
Polymyxin B Approved, Vet_approved Phase 4 1404-26-8
5
Latanoprost Approved, Investigational Phase 4 130209-82-4 5311221 5282380
6
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
7
Cefuroxime Approved Phase 4 55268-75-2 5479529 5361202
8
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
9
tannic acid Approved Phase 4 1401-55-4
10
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
11
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
12
Timolol Approved Phase 4 26839-75-8 5478 33624
13
Brinzolamide Approved Phase 4 138890-62-7 68844
14
Travoprost Approved Phase 4 157283-68-6 5282226
15
Dorzolamide Approved Phase 4 120279-96-1 5284549 3154
16
Maleic acid Experimental, Investigational Phase 4 110-17-8, 110-16-7 444972
17 Antineoplastic Agents, Hormonal Phase 4
18 Antiemetics Phase 4
19 Gastrointestinal Agents Phase 4
20 Polymyxins Phase 4
21 Dextrans Phase 4
22 Lubricant Eye Drops Phase 4
23 Plasma Substitutes Phase 4
24 Anticoagulants Phase 4
25 Blood Substitutes Phase 4
26 Anti-Infective Agents Phase 4
27 Anti-Inflammatory Agents Phase 4
28 Anti-Asthmatic Agents Phase 4
29 Anti-Allergic Agents Phase 4
30 Dermatologic Agents Phase 4
31 Bronchodilator Agents Phase 4
32 Anti-Infective Agents, Local Phase 4
33 Benzalkonium Compounds Phase 4
34 Anesthetics Phase 4
35 cefuroxime axetil Phase 4
36 Antihypertensive Agents Phase 4
37 Pharmaceutical Solutions Phase 4
38 Ophthalmic Solutions Phase 4
39 Neurotransmitter Agents Phase 4
40 Adrenergic beta-Antagonists Phase 4
41 Adrenergic Agents Phase 4
42 Adrenergic Antagonists Phase 4
43 Anti-Arrhythmia Agents Phase 4
44 Brimonidine Tartrate Phase 4 70359-46-5
45
Adenosine Approved, Investigational Phase 3 58-61-7 60961
46
Papaverine Approved, Investigational Phase 2, Phase 3 58-74-2, 61-25-6 4680
47
Dipivefrin Approved Phase 3 52365-63-6 3105
48
Triamcinolone Approved, Vet_approved Phase 2, Phase 3 124-94-7 31307
49
Betaxolol Approved, Investigational Phase 3 63659-18-7, 659-18-7 2369
50
Pilocarpine Approved, Investigational Phase 3 54-71-7, 92-13-7 5910

Interventional clinical trials:

(show top 50) (show all 428)
# Name Status NCT ID Phase Drugs
1 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medication Treated With One Suprachoroidal Stent Unknown status NCT01252914 Phase 4
2 Comparison of Silicone and Porous Plate Ahmed Glaucoma Valves Unknown status NCT01883856 Phase 4
3 A Prospective, Randomized Evaluation of Subjects With Open-angle Glaucoma, Pseudoexfoliative Glaucoma, or Ocular Hypertension Naïve to Medical and Surgical Therapy, Treated With Two Trabecular Micro-bypass Stents (iStent Inject) or Travoprost Ophthalmic Solution 0.004% Unknown status NCT01444040 Phase 4 Travoprost
4 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 Unknown status NCT02796560 Phase 4 Brand name travoprost;Generic travoprost
5 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
6 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
7 A Pilot Study on the Effects of Cosopt on IOP Lowering and Ocular Diastolic Perfusion Pressure in Patients Not Controlled With Xalatan Monotherapy Unknown status NCT00796198 Phase 4 Xalatan+Cosopt;Xalatan
8 Impact of Timolol/Dorzolamide Therapy on Autoregulation in Glaucoma Patients Unknown status NCT02053298 Phase 4 Timolol & Dorzolamide
9 A Randomised Controlled Trial to Compare the Clinical Effectiveness of Selective Laser Trabeculoplasty (SLT) Versus Topical Therapy in the Treatment of Pseudoexfoliative Glaucoma Unknown status NCT01704989 Phase 4 Prostagladin
10 A Prospective Evaluation of Open-angle Glaucoma Subjects on One Topical Hypotensive Medication (Prostaglandin) Treated With Two Trabecular Micro-bypass Stents (iStent Inject) Unknown status NCT02868190 Phase 4
11 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medications (One a Prostaglandin) Treated With Two Trabecular Micro-bypass Stents (iStent Inject) and a Postoperative Topical Prostaglandin Unknown status NCT02873806 Phase 4 Topical travoprost;Tobramycin;Dexamethasone
12 IOP and Tolerability Study of Preserved Bimatoprost 0.1% or Tafluprost Unit Dose Preservative Free 15microgram/ml, in Patients With OHT or Glaucoma Suitable for Prostaglandin Therapy Unknown status NCT02471105 Phase 4 Preserved Bimatoprost 0.01%;Tafluprost Unit Dose Preservative Free 15microgram/ml
13 A Study of LUMIGAN® RC in the Clinical Setting Completed NCT01833741 Phase 4 Bimatoprost 0.01%
14 Dose, Effects and Characteristics of Pilocarpine Completed NCT00803803 Phase 4 Pilocarpine Concentration;Pilocarpine Frequency
15 Assessing the Efficacy and Tolerability of AZARGA® (Brinzolamide 1%/Timolol 0.5% Fixed Combination) as Replacement Therapy in Patients on Brimonidine 0.2%/Timolol 0.5% Fixed Combination Therapy (COMBIGAN®) in Latin America Completed NCT01518244 Phase 4 Brinzolamide/timolol maleate fixed combination
16 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%
17 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252888 Phase 4
18 A Prospective Evaluation of Open-angle Glaucoma Subjects on One Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252862 Phase 4
19 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
20 A Prospective, Unmasked Evaluation of the iStent in Patients With Primary Open-Angle Glaucoma Completed NCT00911924 Phase 4
21 Post Market Multicentric Evaluation of the AqueSys XEN Implant in Moderate Primary Open Angle Glaucoma Subjects Completed NCT02006693 Phase 4
22 Phase 4 Study to Evaluate Efficacy And Safety of Pneumatic Trabeculoplasty (PNT) in Subjects Affected by Primary Open Angle Glaucoma Completed NCT01540331 Phase 4
23 A Prospective, Randomized Evaluation of Subjects With Open-angle Glaucoma, Pseudoexfoliative Glaucoma, or Ocular Hypertension Naïve to Medical and Surgical Therapy, Treated With Two Trabecular Micro-bypass Stents (iStent) or Travoprost Ophthalmic Solution 0.004% Completed NCT01443988 Phase 4 Travoprost
24 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
25 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%
26 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
27 A Study of 0.03% Bimatoprost in the Treatment of Primary Open Angle Glaucoma and Ocular Hypertension Completed NCT02020512 Phase 4 0.03% Bimatoprost
28 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
29 A Study of Bimatoprost in the Treatment of Primary Open Angle Glaucoma and Ocular Hypertension Completed NCT02061683 Phase 4 Bimatoprost 0.03%
30 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%
31 24-hour IOP-lowering Effect of 0.01% Bimatoprost Completed NCT01271686 Phase 4 0.01% bimatoprost
32 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)
33 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
34 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
35 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®)
36 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
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 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.
39 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)
40 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
41 Safety and Efficacy of Using the Travoprost/Timolol Fixed Combination (DuoTrav®) in Patients With Open-Angle Glaucoma or Uncontrolled Ocular Hypertension by Beta-blocker Monotherapy (Timolol 0.5%) Completed NCT01336569 Phase 4 Travoprost 0.004%/timolol maleate 0.5% fixed combination
42 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%
43 The Effect of Inhaled Corticosteroids on Intraocular Pressure in Patients With Ocular Hypertension or Controlled Glaucoma. Completed NCT02338362 Phase 4 Fluticasone propionate inhaler;Saline placebo inhaler
44 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
45 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
46 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
47 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%;Travoprost 0.004% / Timolol maleate 0.5%
48 Efficacy and Safety of Adding the Brinzolamide/Timolol Maleate Fixed Combination (AZARGA®) to Ocular Hypertensive or Glaucoma Patients Uncontrolled on Prostaglandin Monotherapy Completed NCT01263444 Phase 4 Brinzolamide 1% / timolol 0.5% Fixed Combination;Habitual prostaglandin monotherapy
49 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%
50 Patient Preference Comparison of AZARGA Versus COSOPT After Single Doses in Patients With Open-Angled Glaucoma or Ocular Hypertension Completed NCT01471158 Phase 4 Brinzolamide/Timolol Maleate Fixed Combination (AZARGA);Dorzolamide/timolol Maleate Fixed Combination (COSOPT)

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 29 OPTN
2 Primary Open Angle Glaucoma (adult Onset) 29
3 Glaucoma 1, Open Angle, E 29
Sources

Anatomical Context for Glaucoma, Primary Open Angle

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MalaCards organs/tissues related to Glaucoma, Primary Open Angle:

40
Eye, Testes, Endothelial, Retina, Brain, Cortex, Heart
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 7165)
# Title Authors PMID Year
1
Adult-onset primary open-angle glaucoma caused by mutations in optineurin. 6 56 61
11834836 2002
2
Altered nitric oxide system in patients with open-angle glaucoma. 56 61
17420369 2007
3
Effects of TGF-beta2, BMP-4, and gremlin in the trabecular meshwork: implications for glaucoma. 56 61
17325163 2007
4
Systemic reduction in glutathione levels occurs in patients with primary open-angle glaucoma. 61 56
15728543 2005
5
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. 61 6
15342693 2004
6
Reduction of posterior pole retinal thickness in glaucoma detected using the Retinal Thickness Analyzer. 56 61
15019374 2004
7
Heritability of risk factors for primary open-angle glaucoma: the Beaver Dam Eye Study. 61 56
14691154 2004
8
Oxidative stress markers in aqueous humor of glaucoma patients. 56 61
14700645 2004
9
Effects of TGF-beta2 in perfused human eyes. 61 56
14691167 2004
10
A genome-wide scan for primary open-angle glaucoma (POAG): the Barbados Family Study of Open-Angle Glaucoma. 61 56
12616399 2003
11
T cell subsets and sIL-2R/IL-2 levels in patients with glaucoma. 61 56
11292402 2001
12
Absence of trabecular meshwork-inducible stretch response (TISR)/oculomedin gene and proximal promoter mutation in primary open angle glaucoma patients. 61 56
11129344 2000
13
Genome-wide scan for adult onset primary open angle glaucoma. 61 56
10767336 2000
14
Adult-onset primary open angle glaucoma does not localize to chromosome 2cen-q13 in North American families. 56 61
9748694 1998
15
Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region. 56 61
9497264 1998
16
Models of open-angle glaucoma prevalence and incidence in the United States. 61 56
9008633 1997
17
Recent advances in molecular genetics of glaucomas. 56 61
9300658 1997
18
The distinction between juvenile and adult-onset primary open-angle glaucoma. 56 61
8554064 1996
19
Genetic defect in cortisol metabolism in primary open angle glaucoma. 56 61
3842204 1985
20
Extracellular matrix in the trabecular meshwork: intraocular pressure regulation and dysregulation in glaucoma. 56
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21
Prevention of nocturnal elevation of intraocular pressure by gene transfer of dominant-negative RhoA in rats. 56
25412195 2015
22
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. 56
21532571 2011
23
Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. 6
18470941 2008
24
Prostaglandins increase trabecular meshwork outflow facility in cultured human anterior segments. 56
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25
Global changes in optic nerve head gene expression after exposure to elevated intraocular pressure in a rat glaucoma model. 56
17591886 2007
26
Presence of an established calcification marker in trabecular meshwork tissue of glaucoma donors. 56
17591888 2007
27
Heritable features of the optic disc: a novel twin method for determining genetic significance. 56
17525172 2007
28
A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants. 56
17389490 2007
29
High myopia and glaucoma susceptibility the Beijing Eye Study. 56
17123613 2007
30
Endothelin B receptor in human glaucoma and experimentally induced optic nerve damage. 56
16682595 2006
31
Model of endothelin-1-induced chronic optic neuropathy in rat. 56
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32
Ganglion cell losses underlying visual field defects from experimental glaucoma. 56
10476789 1999
33
Molecular genetics of the glaucomas: mapping of the first five "GLC" loci. 56
9012399 1997
34
Risk factors for the development of glaucomatous visual field loss in ocular hypertension. 56
8185522 1994
35
Open-angle glaucoma. 56
8455668 1993
36
Racial differences in intraocular tension and glaucoma surgery. 56
7387780 1980
37
Current concepts in ophthalmology: the glaucomas. 56
351398 1978
38
Twin heritability study of the effect of corticosteroids on intraocular pressure. 56
5065285 1972
39
Ocular pressure and aqueous outflow facility in siblings. 56
5670691 1968
40
The heritable nature of dexamethasone-induced ocular hypertension. 56
5900502 1966
41
THE INHERITANCE OF GLAUCOMA. A PEDIGREE OF FAMILIAL GLAUCOMA. 56
14310076 1965
42
Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece. 54 61
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43
Variable clinical spectrum of the myocilin Gln368X mutation in a Dutch family with primary open angle glaucoma. 54 61
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44
[Genetic variants of CYP1B1 and WDR36 in the patients with primary congenital glaucoma and primary open angle glaucoma from Saint-Petersburg]. 54 61
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45
Autosomal recessive primary open angle glaucoma (POAG) in beagles is not associated with mutations in the myocilin (MYOC) gene. 61 54
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46
Overexpression of myocilin in the Drosophila eye activates the unfolded protein response: implications for glaucoma. 54 61
19148291 2009
47
Gillies lecture: dissecting glaucoma: understanding the molecular risk factors. 61 54
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48
Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma. 61 54
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49
Screening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocol. 61 54
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50
Recurrent Myocilin Asn480Lys glaucoma causative mutation arises de novo in a family of Andean descent. 61 54
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Sources

Variations for Glaucoma, Primary Open Angle

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ClinVar genetic disease variations for Glaucoma, Primary Open Angle:

6 (show top 50) (show all 225) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OPTN NC_000010.11:g.(?_13109103)_(13136886_?)deldeletion Pathogenic 529764 10:13151103-13178886 10:13109103-13136886
2 OPTN NC_000010.10:g.(?_12833157)_(13178866_?)deldeletion Pathogenic 584050 10:12833157-13178866
3 OPTN NC_000010.11:g.(?_13109123)_(13183100_?)deldeletion Pathogenic 583651 10:13151123-13225100 10:13109123-13183100
4 OPTN NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs)duplication Pathogenic 576203 rs1564354968 10:13151279-13151280 10:13109279-13109280
5 OPTN NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs)insertion Pathogenic 647662 10:13154464-13154465 10:13112464-13112465
6 OPTN NC_000010.11:g.(?_13109113)_(13112645_?)deldeletion Pathogenic 832940 10:13151113-13154645
7 OPTN NC_000010.11:g.(?_13116257)_(13116350_?)deldeletion Pathogenic 831344 10:13158257-13158350
8 OPTN OPTN, 2-BP INS, 691AGinsertion Pathogenic 7097
9 OPTN NM_001008212.2(OPTN):c.148G>A (p.Glu50Lys)SNV Pathogenic 7096 rs28939688 10:13151270-13151270 10:13109270-13109270
10 MYOC NM_000261.2(MYOC):c.1111T>C (p.Tyr371His)SNV Pathogenic 242274 rs878854408 1:171605469-171605469 1:171636329-171636329
11 MYOC NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)SNV Likely pathogenic 7949 rs74315329 1:171605478-171605478 1:171636338-171636338
12 LTBP2 NM_000428.3(LTBP2):c.1484G>A (p.Arg495Gln)SNV Likely pathogenic 126950 rs137854858 14:75017969-75017969 14:74551266-74551266
13 LTBP2 NM_000428.3(LTBP2):c.4250A>G (p.Gln1417Arg)SNV Likely pathogenic 126955 rs137854863 14:74971805-74971805 14:74505102-74505102
14 LTBP2 NM_000428.3(LTBP2):c.4912G>A (p.Val1638Met)SNV Likely pathogenic 126958 rs137854860 14:74969614-74969614 14:74502911-74502911
15 CARD10 NM_014550.4(CARD10):c.2485C>T (p.Arg829Trp)SNV risk factor 224916 rs201794655 22:37888801-37888801 22:37492794-37492794
16 CARD10 NM_014550.4(CARD10):c.1210C>T (p.Arg404Trp)SNV risk factor 224915 rs750643216 22:37902372-37902372 22:37506365-37506365
17 CARD10 NM_014550.4(CARD10):c.1024G>A (p.Val342Met)SNV risk factor 224914 rs200148764 22:37904575-37904575 22:37508568-37508568
18 CARD10 NM_014550.4(CARD10):c.983C>T (p.Ala328Val)SNV risk factor 224913 rs139006752 22:37904616-37904616 22:37508609-37508609
19 CARD10 NM_014550.4(CARD10):c.635G>A (p.Arg212His)SNV risk factor 224912 rs1057519378 22:37912044-37912044 22:37516037-37516037
20 OPTN NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter)SNV Conflicting interpretations of pathogenicity 631627 rs140599944 10:13154486-13154486 10:13112486-13112486
21 CYP1B1 NM_000104.3(CYP1B1):c.241T>A (p.Tyr81Asn)SNV Conflicting interpretations of pathogenicity 7744 rs9282671 2:38302291-38302291 2:38075148-38075148
22 WDR36 NM_139281.2(WDR36):c.99C>G (p.Asp33Glu)SNV Conflicting interpretations of pathogenicity 262467 rs35629723 5:110428085-110428085 5:111092387-111092387
23 OPTN NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu)SNV Conflicting interpretations of pathogenicity 266060 rs142812715 10:13166053-13166053 10:13124053-13124053
24 OPTN NM_001008212.2(OPTN):c.489A>G (p.Glu163=)SNV Conflicting interpretations of pathogenicity 256881 rs113811959 10:13154572-13154572 10:13112572-13112572
25 OPTN NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)SNV Conflicting interpretations of pathogenicity 7098 rs75654767 10:13178766-13178766 10:13136766-13136766
26 OPTN NM_001008212.2(OPTN):c.812G>A (p.Arg271His)SNV Conflicting interpretations of pathogenicity 877716 10:13164417-13164417 10:13122417-13122417
27 OPTN NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp)SNV Conflicting interpretations of pathogenicity 877717 10:13164472-13164472 10:13122472-13122472
28 OPTN NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp)SNV Conflicting interpretations of pathogenicity 879707 10:13178765-13178765 10:13136765-13136765
29 WDR36 NM_139281.2(WDR36):c.376G>A (p.Asp126Asn)SNV Conflicting interpretations of pathogenicity 350303 rs115541547 5:110432794-110432794 5:111097096-111097096
30 WDR36 NM_139281.2(WDR36):c.1810A>G (p.Ile604Val)SNV Conflicting interpretations of pathogenicity 350319 rs34661294 5:110446903-110446903 5:111111204-111111204
31 OPTN NM_001008212.2(OPTN):c.444G>A (p.Val148=)SNV Conflicting interpretations of pathogenicity 299213 rs780011442 10:13154527-13154527 10:13112527-13112527
32 OPTN NM_001008212.2(OPTN):c.573A>G (p.Ser191=)SNV Conflicting interpretations of pathogenicity 299215 rs773095721 10:13158287-13158287 10:13116287-13116287
33 OPTN NM_001008212.2(OPTN):c.*1251C>GSNV Conflicting interpretations of pathogenicity 299236 rs542617940 10:13180117-13180117 10:13138117-13138117
34 OPTN NM_001008212.2(OPTN):c.963C>T (p.Ser321=)SNV Conflicting interpretations of pathogenicity 299218 rs150381274 10:13166075-13166075 10:13124075-13124075
35 OPTN NM_001008212.2(OPTN):c.1569G>A (p.Ala523=)SNV Conflicting interpretations of pathogenicity 299222 rs771316696 10:13175538-13175538 10:13133538-13133538
36 OPTN NM_001008212.2(OPTN):c.1427A>G (p.His476Arg)SNV Uncertain significance 299220 rs886046821 10:13174092-13174092 10:13132092-13132092
37 OPTN NM_001008212.2(OPTN):c.*938C>GSNV Uncertain significance 299232 rs886046826 10:13179804-13179804 10:13137804-13137804
38 OPTN NM_001008212.2(OPTN):c.*1089G>ASNV Uncertain significance 299235 rs758812707 10:13179955-13179955 10:13137955-13137955
39 OPTN NM_001008212.2(OPTN):c.*1385T>CSNV Uncertain significance 299238 rs546352206 10:13180251-13180251 10:13138251-13138251
40 OPTN NM_001008212.2(OPTN):c.*1063C>ASNV Uncertain significance 299234 rs530046832 10:13179929-13179929 10:13137929-13137929
41 OPTN NM_001008212.2(OPTN):c.-250C>ASNV Uncertain significance 299206 rs886046818 10:13142216-13142216 10:13100216-13100216
42 OPTN NM_001008212.2(OPTN):c.247C>T (p.Arg83Cys)SNV Uncertain significance 299209 rs756622651 10:13152354-13152354 10:13110354-13110354
43 OPTN NM_001008212.2(OPTN):c.425A>C (p.Gln142Pro)SNV Uncertain significance 299211 rs757411888 10:13154508-13154508 10:13112508-13112508
44 OPTN NM_001008212.2(OPTN):c.441G>A (p.Val147=)SNV Uncertain significance 299212 rs886046819 10:13154524-13154524 10:13112524-13112524
45 OPTN NM_001008212.2(OPTN):c.*218G>CSNV Uncertain significance 299225 rs886046824 10:13179084-13179084 10:13137084-13137084
46 OPTN NM_001008212.2(OPTN):c.*386C>ASNV Uncertain significance 299228 rs745564491 10:13179252-13179252 10:13137252-13137252
47 OPTN NM_001008212.2(OPTN):c.*413G>ASNV Uncertain significance 299229 rs886046825 10:13179279-13179279 10:13137279-13137279
48 OPTN NM_001008212.2(OPTN):c.961A>T (p.Ser321Cys)SNV Uncertain significance 299217 rs886046820 10:13166073-13166073 10:13124073-13124073
49 OPTN NM_001008212.2(OPTN):c.1243-13G>ASNV Uncertain significance 299219 rs374144660 10:13169732-13169732 10:13127732-13127732
50 OPTN NM_001008212.2(OPTN):c.*152G>TSNV Uncertain significance 299224 rs886046823 10:13179018-13179018 10:13137018-13137018

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 rs134686580
4 OPTN p.His486Arg VAR_021546 rs373425395

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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 related to Glaucoma, Primary Open Angle according to KEGG:

36
# Name Kegg Source Accession
1 Ribosome biogenesis in eukaryotes hsa03008

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

# Super pathways Score Top Affiliating Genes
1
Elastic fibre formation 65
Show member pathways
 10.66 TGFB2 LOXL1 ELN
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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 9.1 TGFB2 SERPINA3 MYOC 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 phototransduction, visible light GO:0007603 9.16 RHO ABCA4
2 collagen fibril organization GO:0030199 9.13 TGFB2 LOXL1 CYP1B1
3 visual perception GO:0007601 9.1 WDR36 SIX6 RHO CYP1B1 CRYAA ABCA4
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Sources for Glaucoma, Primary Open Angle

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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44 MESH via Orphanet
45 MGI
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50 NDF-RT
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
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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