IOPQTL
MCID: INT323
MIFTS: 63

Intraocular Pressure Quantitative Trait Locus (IOPQTL)

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Intraocular Pressure Quantitative Trait Locus

MalaCards integrated aliases for Intraocular Pressure Quantitative Trait Locus:

Name: Intraocular Pressure Quantitative Trait Locus 57
Glaucoma 57 12 73 29 54 6 42 44 15 62 39 17 32
Glaucoma, Susceptibility to 57
Iopqtl 57

Classifications:



External Ids:

Disease Ontology 12 DOID:1686
OMIM® 57 611522
ICD9CM 34 365
MeSH 44 D005901
NCIt 50 C26782
SNOMED-CT 67 155120009
UMLS 70 C0017601

Summaries for Intraocular Pressure Quantitative Trait Locus

MedlinePlus : 42 Glaucoma is a group of diseases that can damage the eye's optic nerve. It is a leading cause of blindness in the United States. It usually happens when the fluid pressure inside the eyes slowly rises, damaging the optic nerve. Often there are no symptoms at first. Without treatment, people with glaucoma will slowly lose their peripheral, or side vision. They seem to be looking through a tunnel. Over time, straight-ahead vision may decrease until no vision remains. A comprehensive eye exam can tell if you have glaucoma. People at risk should get eye exams at least every two years. They include African Americans over age 40 People over age 60, especially Mexican Americans People with a family history of glaucoma There is no cure, but glaucoma can usually be controlled. Early treatment can help protect your eyes against vision loss. Treatments usually include prescription eyedrops and/or surgery. NIH: National Eye Institute

MalaCards based summary : Intraocular Pressure Quantitative Trait Locus, also known as glaucoma, is related to glaucoma 1, open angle, a and glaucoma 3, primary congenital, a. An important gene associated with Intraocular Pressure Quantitative Trait Locus is ZEB1 (Zinc Finger E-Box Binding Homeobox 1), and among its related pathways/superpathways are MicroRNAs in cancer and TGF-beta signaling pathway (KEGG). The drugs Topiramate and Bimatoprost have been mentioned in the context of this disorder. Affiliated tissues include Eye, endothelial and retina, and related phenotypes are homeostasis/metabolism and mortality/aging

Disease Ontology : 12 An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.

PubMed Health : 62 About glaucoma: Vision often worsens with age. In addition to this normal aging effect, people may also develop eye conditions that further impair their eyesight or even lead to blindness. Glaucoma is one of the more common eye diseases. The term "glaucoma" is used to describe a number of different eye conditions, all of which involve damage to the optic nerve. This leads to ever larger gaps in the field of vision, which often remain unnoticed at first. Your field of vision is what you can see when you look straight ahead, without moving your eyes. In advanced stages, your ability to see things sharply (visual acuity) also gets worse. The following information mainly covers the most common form of glaucoma, called primary open-angle glaucoma (POAG). It progresses slowly, and damage to the optic nerve will not cause vision problems for many years. Eye drops and surgery are the most common treatment options.

Wikipedia : 73 Glaucoma is a group of eye diseases which result in damage to the optic nerve and cause vision loss. The... more...

More information from OMIM: 611522

Related Diseases for Intraocular Pressure Quantitative Trait Locus

Diseases related to Intraocular Pressure Quantitative Trait Locus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1305)
# Related Disease Score Top Affiliating Genes
1 glaucoma 1, open angle, a 33.2 OPTN MYOC CYP1B1
2 glaucoma 3, primary congenital, a 33.1 WDR36 PITX2 PAX6 OPTN MYOC FOXC1
3 primary angle-closure glaucoma 33.0 OPTN MYOC CYP1B1
4 neovascular glaucoma 33.0 TGFB2 MYOC CRYAA
5 chronic closed-angle glaucoma 33.0 TGFB2 MYOC LOXL1
6 glaucoma, normal tension 33.0 WDR36 OPTN MYOC LOXL1 EDN1 CYP1B1
7 early-onset glaucoma 33.0 PITX2 MYOC CYP1B1
8 acute closed-angle glaucoma 32.9 OPTN MYOC CYP1B1
9 open-angle glaucoma 32.8 WDR36 TGFB2 PTGFR OPTN MYOC LOXL1
10 glaucoma, primary open angle 32.8 WDR36 TGFB2 PTGFR PITX2 PAX6 OPTN
11 traumatic glaucoma 32.8 MYOC LOXL1 CYP1B1
12 glaucoma-related pigment dispersion syndrome 32.8 WDR36 PITX2 OPTN MYOC LOXL1 LMX1B
13 primary congenital glaucoma 32.7 WDR36 PITX2 PAX6 OPTN MYOC LOXL1
14 steroid-induced glaucoma 32.7 WDR36 TGFB2 MYOC CYP1B1 CRYAA COCH
15 anterior segment dysgenesis 4 32.6 PITX2 FOXC1 CRYAA
16 glaucoma 1, open angle, d 32.6 OPTN MYOC CYP1B1
17 juvenile glaucoma 32.5 WDR36 PITX2 PAX6 OPTN MYOC LOXL1
18 peters-plus syndrome 32.5 PITX2 PAX6 MYOC FOXC1 CYP1B1 CRYAA
19 phacogenic glaucoma 32.4 WDR36 TGFB2 OPTN MYOC LOXL1 FOXC1
20 optic nerve disease 32.4 WDR36 PAX6 OPTN MYOC EDN1 CRYAA
21 ocular hypertension 32.3 WDR36 TGFB2 PTGFR OPTN MYOC CRYAA
22 myopia 32.3 WDR36 TGFB2 PAX6 MYOC CRYAA
23 hydrophthalmos 32.2 WDR36 PITX2 PAX6 MYOC FOXC1 CYP1B1
24 aniridia 1 32.2 PITX2 PAX6 MYOC FOXC1 CYP1B1 CRYAA
25 axenfeld-rieger syndrome 32.2 WDR36 PITX2 PAX6 MYOC LMX1B FOXC1
26 cataract 32.1 TGFB2 SLC4A4 PITX2 PAX6 LOXL1 FOXC1
27 eye disease 32.0 TGFB2 PITX2 PAX6 OPTN MYOC FOXC1
28 axenfeld-rieger syndrome, type 1 32.0 PITX2 PAX6 FOXC1 CRYAA
29 megalocornea 31.9 WDR36 PITX2 MYOC FOXC1 CYP1B1
30 nanophthalmos 31.9 WDR36 PAX6 MYOC LOXL1 LMX1B
31 axenfeld-rieger syndrome, type 2 31.9 WDR36 PITX2 FOXC1
32 axenfeld-rieger syndrome, type 3 31.8 PITX2 PAX6 FOXC1 CYP1B1 CRYAA
33 coloboma of macula 31.8 PITX2 PAX6 FOXC1 CRYAA
34 anterior segment dysgenesis 31.8 WDR36 PITX2 PAX6 MYOC LMX1B FOXC1
35 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 31.8 PITX2 PAX6 LMX1B FOXC1
36 anterior segment dysgenesis 1 31.7 PITX2 PAX6 FOXC1 CYP1B1
37 corneal edema 31.7 ZEB1 MYOC CYP1B1
38 keratopathy 31.4 TGFB2 PAX6 CYP1B1
39 macular degeneration, age-related, 1 31.4 TGFB2 PAX6 MYOC LOXL1 CRYAA
40 microvascular complications of diabetes 1 31.3 TGFB2 EDN1 CRYAA
41 keratitis, hereditary 31.3 PITX2 PAX6 MYOC LMX1B FOXC1 CYP1B1
42 retinal disease 31.2 PAX6 OPTN MYOC CRYAA CA4
43 corneal disease 31.1 ZEB1 TGFB2 PITX2 PAX6 FOXC1 CRYAA
44 lens subluxation 31.1 PAX6 LOXL1 CRYAA
45 ocular hyperemia 30.9 PTGFR EDN1
46 persistent hyperplastic primary vitreous 30.7 TGFB2 PITX2 PAX6 FOXC1
47 central retinal artery occlusion 30.7 EDN1 CRYAA
48 cornea plana 30.6 PITX2 FOXC1 CRYAA
49 optic nerve hypoplasia, bilateral 30.6 PAX6 MYOC EDN1
50 anisometropia 30.6 PAX6 CRYAA

Graphical network of the top 20 diseases related to Intraocular Pressure Quantitative Trait Locus:



Diseases related to Intraocular Pressure Quantitative Trait Locus

Symptoms & Phenotypes for Intraocular Pressure Quantitative Trait Locus

Clinical features from OMIM®:

611522 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Intraocular Pressure Quantitative Trait Locus:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.33 CA2 CA4 CREBBP CYP1B1 EDN1 FOXC1
2 mortality/aging MP:0010768 10.25 CA2 CA4 CREBBP EDN1 FOXC1 LMX1B
3 cardiovascular system MP:0005385 10.24 CREBBP EDN1 FOXC1 LMX1B LOXL1 PAX6
4 digestive/alimentary MP:0005381 10.21 CA2 CREBBP EDN1 FOXC1 LOXL1 PAX6
5 craniofacial MP:0005382 10.18 CREBBP EDN1 FOXC1 LMX1B PAX6 PITX2
6 embryo MP:0005380 10.15 CREBBP EDN1 FOXC1 LMX1B PAX6 PITX2
7 endocrine/exocrine gland MP:0005379 10.13 CA2 CREBBP EDN1 FOXC1 PAX6 PITX2
8 nervous system MP:0003631 10.11 CA2 CREBBP EDN1 FOXC1 LMX1B LOXL1
9 muscle MP:0005369 10.06 CREBBP EDN1 FOXC1 LMX1B PAX6 PITX2
10 normal MP:0002873 9.97 COCH CREBBP EDN1 FOXC1 LMX1B MYOC
11 reproductive system MP:0005389 9.91 CA2 CA4 FOXC1 LOXL1 PAX6 PITX2
12 respiratory system MP:0005388 9.76 CA2 CREBBP FOXC1 LOXL1 PAX6 PITX2
13 skeleton MP:0005390 9.65 CA2 CREBBP EDN1 FOXC1 LMX1B PAX6
14 vision/eye MP:0005391 9.36 CA4 CYP1B1 FOXC1 LMX1B LOXL1 MYOC

Drugs & Therapeutics for Intraocular Pressure Quantitative Trait Locus

PubMed Health treatment related to Intraocular Pressure Quantitative Trait Locus: 62

Lowering high intraocular pressure can help to delay or stop the gradual progression of vision loss. Glaucoma can't be cured, though, because existing damage to the optic nerve can't be reversed. If someone has glaucoma and high intraocular pressure, it is usually treated using eye drops. Depending on the specific product, the eye drops are applied either once or several times a day. Surgery or laser therapy may be considered if the medication doesn't work, stops working after a while, or is not well tolerated.

Drugs for Intraocular Pressure Quantitative Trait Locus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 305)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Topiramate Approved Phase 4 97240-79-4 5284627
2
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
3
Dorzolamide Approved Phase 4 120279-96-1 3154 5284549
4
Clonidine Approved Phase 4 4205-90-7 2803
5
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
6
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 444025 9865442
7
Tobramycin Approved, Investigational Phase 4 32986-56-4 5496 36294
8
Apraclonidine Approved Phase 4 66711-21-5 2216
9
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
10
Sorbitol Approved Phase 4 50-70-4 5780
11
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
12
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
13
Carteolol Approved Phase 4 51781-06-7 2583
14
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
15
Dipivefrin Approved Phase 4 52365-63-6 3105
16
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
17
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
18
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
19
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
20
Fluorouracil Approved Phase 4 51-21-8 3385
21
Cefuroxime Approved Phase 4 55268-75-2 5361202 5479529
22
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
23
tannic acid Approved Phase 4 1401-55-4
24
Difluprednate Approved Phase 4 23674-86-4 443936
25
Bromfenac Approved Phase 4 91714-94-2 60726
26
Brinzolamide Approved Phase 4 138890-62-7 68844
27
Bevacizumab Approved, Investigational Phase 4 216974-75-3
28
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
29
Choline Approved, Nutraceutical Phase 4 62-49-7 305
30
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4 445354
31
Lutein Approved, Investigational, Nutraceutical Phase 4 127-40-2 5281243
32
Cloprostenol Vet_approved Phase 4 54276-21-0
33
Maleic acid Experimental Phase 4 110-16-7 444266
34 Anticonvulsants Phase 4
35 Ketorolac Tromethamine Phase 4
36 Hypoglycemic Agents Phase 4
37 Anti-Infective Agents, Local Phase 4
38 Benzalkonium Compounds Phase 4
39 Vitamins Phase 4
40 Sympatholytics Phase 4
41 Cytidine Diphosphate Choline Phase 4
42 Nootropic Agents Phase 4
43 Respiratory System Agents Phase 4
44 Anti-Asthmatic Agents Phase 4
45 Dermatologic Agents Phase 4
46 Anti-Allergic Agents Phase 4
47 Contraceptive Agents Phase 4
48 Brimonidine Tartrate, Timolol Maleate Drug Combination Phase 4
49 Bronchodilator Agents Phase 4
50 Adrenocorticotropic Hormone Phase 4

Interventional clinical trials:

(show top 50) (show all 1558)
# Name Status NCT ID Phase Drugs
1 EFFECTS OF IMMEDIATE ARGON LASER PERIPHERAL IRIDOPLASTY Versus CONVENTIONAL SYSTEMIC MEDICAL THERAPY ON OPTIC NERVE HEAD STRUCTURE AND FUNCTION OF ACUTE PRIMARY ANGLE CLOSURE EYES Unknown status NCT00485238 Phase 4 Intravenous acetazolamide
2 Use of Vascular Endothelial Growth Factor Inhibitor, Bevacizumab to Modulate the Outcomes of Trabeculectomy Surgery Unknown status NCT01229202 Phase 4 Bevacizumab
3 The Effect of Patient Education on Glaucoma Medication Compliance Unknown status NCT00376974 Phase 4
4 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
5 Comparison of the Ahmed Glaucoma Valve FP7 and FP8 in Pediatric Glaucoma: a Randomized Clinical Trial. Unknown status NCT01494974 Phase 4
6 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
7 Evaluation of Safety and Efficacy of Glaucoma Shunt (Aurolab Artificial Drainage Implant) in Refractory Glaucoma Unknown status NCT01401088 Phase 4
8 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
9 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
10 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
11 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
12 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medication Treated With One Suprachoroidal Stent Unknown status NCT01252914 Phase 4
13 Impact of Timolol/Dorzolamide Therapy on Autoregulation in Glaucoma Patients Unknown status NCT02053298 Phase 4 Timolol & Dorzolamide
14 A Study of the Glaukos Trabecular Micro-bypass Stent in Open Angle Glaucoma Subjects 1 Stent Versus 2 Stents Unknown status NCT00326079 Phase 4
15 A Prospective Evaluation of Mild to Moderate Open-Angle Glaucoma Subjects With Cataract Treated With Cataract Surgery Plus One Trabecular Micro-bypass Stent and One Suprachoroidal Stent Unknown status NCT03255785 Phase 4
16 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
17 The Effect of "Eye Drop Guide" on the Success Rate of Eye Drops Self-instillation in Glaucoma Patients. Unknown status NCT01704248 Phase 4
18 Efficiency of XAL-EASE Device in Glaucoma and/or Ocular Hypertension (OHT) Patients, Treated With Xalatan or Xalacom Unknown status NCT01125306 Phase 4
19 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
20 Effect of Prophylactic Aqueous Suppression on Hyperencapsulation of Ahmed Glaucoma Valves Unknown status NCT01535768 Phase 4 Aqueous Suppressant Eye Drops
21 A Prospective, Randomized, Controlled Study to Assess Efficacy,Safety, and Tolerability of Selective Laser Trabeculoplasty vs. Pattern Laser Trabeculoplasty in Patients With Open-angle Glaucoma Unknown status NCT02231515 Phase 4
22 Combined Phacoemulsification and Glaucoma Implant Surgery Versus Combined Phacoemulsification and Trabeculectomy: A Randomized Controlled Trial Unknown status NCT00273221 Phase 4
23 Comparative Study of the Safety and Effectiveness Between Off-Label Subconjunctival Bevacizumab and Mitomycin C in Glaucoma Filtering Surgery. Unknown status NCT00468429 Phase 4 Subconjunctival Bevacizumab
24 Comparative Study of the Safety and Effectiveness Between Ologen (OculusGen) Collagen Matrix Implant and Mitomycin-C in Glaucoma Filtering Surgery Unknown status NCT00449098 Phase 4 Trabeculectomy with MMC
25 An Open Label,Switch Study of the Safety and Efficacy of Combigan Ophthalmic Solution(Brimonidine 0.2% and Timolol 0.5%)With Latanoprost Compared With Latanoprost Monotherapy in Patient With Glaucoma or Ocular Hypertension. Unknown status NCT00442312 Phase 4 Combigan Ophthalmic Solutiom
26 Semi-Automated Patterned Laser Trabeculoplasty Unknown status NCT00804323 Phase 4
27 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
28 Relationship Between Topiramate Use and Ocular Angle Status: A Prospective Pilot Study Unknown status NCT00153699 Phase 4 Topiramate
29 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
30 A Comparison of Latanoprost (Xalatan) With Travoprost (Travatan) and Bimatoprost (Lumigan) in Patients With Elevated Intraocular Pressure. A Twelve-week, Masked Evaluator, Phase IV, Multicenter Study in the United States. (Xalatan vs Travatan vs Lumigan). Completed NCT00847483 Phase 4 latanoprost 0.005% ophthalmic solution;Travoprost 004% sterile ophthalmic solution;Bimatoprost .03% sterile ophthalmic solution
31 The 24 Control of IOP in Ocular Hypertension: a Cross-over Study on Inflow Versus Outflow Drugs. Completed NCT01655758 Phase 4 0.5% timolol;timolol-dorzolamide fixed combination;Latanoprost;Travoprost;Bimatoprost
32 Investigation of the Efficacy and Safety of Preoperative Intraocular Pressure (IOP) Reduction With Preservative-free COSOPT-S® (Dorzolamide/Timolol, MSD) Eye Drops Versus Oral Acetazolamide and Dexamethasone Eye Drops Completed NCT01228149 Phase 4 Trabeculectomy with preoperative Diamox/DexaEDO treatment;Trabeculectomy with preoperative Cosopt S treatment
33 Ocular Surface Changes With Topical Prostaglandin Analog Therapy Completed NCT00798694 Phase 4 Xalatan;Travatan Z
34 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%
35 The RAVE (Rubeosis Anit-VEgf) Trial, Utilizes Monthly Intravitreal Bevazizumab (Avastin) Injections for 12 Months to See if Total VEGF Blockade Will Prevent Neovascular Glaucoma and Eliminate the Need for Panretinal Photocoagulation in Patients With Ischemic Central Retinal Vein Occlusion Completed NCT00557232 Phase 4 bevacizumab
36 Comparative Study of the Safety and Effectiveness of Ologen Collagen Matrix Versus Mitomycin-C in Glaucoma Filtering Surgery Completed NCT01440751 Phase 4 Use of Mitomycin-C (MMC) in trabeculectomy
37 Ologen Collagen Matrix Safety and Effective Comparison With Mitomycin-C(MMC) in Glaucoma Surgery Completed NCT00538590 Phase 4 Mitomycin-C(MMC) and glaucoma filtering surgery
38 A Prospective, Unmasked Evaluation of the iStent in Patients With Primary Open-Angle Glaucoma Completed NCT00911924 Phase 4
39 A 12 Week Comparison of DuoTrav and Xalacom at 24 Hours Post-Dose in the Treatment of Open-Angle Glaucoma (the DVX Study) Completed NCT00887029 Phase 4 DuoTrav (travoprost-timolol ophthalmic drops);Xalacom (latanoprost-timolol ophthalmic drops)
40 Efficacy of SLT in Patients With Insufficient IOP Control Under Maximum Tolerated Drug Therapy (Eye Drops) Completed NCT00801658 Phase 4
41 Effects of Topical Hypotensive Drugs on Circadian Ocular Perfusion Pressure and Ocular Blood Flow in Patients With Open-Angle Glaucoma Completed NCT00800540 Phase 4 Brinzolamide 10 mg/ml/Timolol 5 mg/ml eye drops suspension;Brimonidine 20 mg/ml/Timolol 5 mg/ml eye drops solution
42 Aqueous Humor Dynamic Components That Determine Intraocular Pressure Variance Completed NCT01677507 Phase 4 Variation in eye pressure response to timolol and latanoprost treatment
43 Effects of Intravenous Clonidine on Ocular Blood Flow and Intraocular Pressure Completed NCT00279253 Phase 4 clonidine (drug) intravenously
44 12-Month Stability of Diurnal IOP Control on Cosopt Completed NCT00379834 Phase 4 Cosopt
45 Additive Effect of Brinzolamide 1%/Brimonidine 0.2% Fixed Dose Combination as Adjunctive Therapy to a Prostaglandin Analogue Completed NCT01937312 Phase 4 Brinzolamide 1%/brimonidine 0.2% ophthalmic suspension;Vehicle;Prostaglandin analogue
46 Additive Effect of Brinzolamide 1%/Brimonidine 0.2% Fixed Dose Combination As Adjunctive Therapy to Travoprost Completed NCT01937299 Phase 4 Brinzolamide 1%/brimonidine 0.2% ophthalmic suspension;Vehicle;Travoprost 0.004% ophthalmic solution
47 Topical Brimonidine vs Argon Laser Trabeculoplasty in Progressing Human Glaucoma. A Prospective Randomized Clinical Trial. Completed NCT00466479 Phase 4 brimonidine
48 24-Hour Efficacy of Travoprost/Timolol Benzalkonium Chloride BAK Free Compared With Latanoprost/Timolol Fixed Combination Therapy in Subjects With Open-Angle Glaucoma Insufficiently Controlled With Latanoprost Monotherapy Completed NCT01779284 Phase 4 Travoprost/timolol therapy;Latanoprost/Timolol therapy
49 Examination of Ocular Surface Effects With Administration of TRAVATAN Z® and Xalatan® Completed NCT00708422 Phase 4 Travoprost ophthalmic solution 0.004% with SofZia® preservative system (TRAVATAN Z®);Latanoprost ophthalmic solution 0.005% (XALATAN®)
50 Examination of Ocular Surface Effects With Administration of TRAVATAN Z® and XALATAN® Completed NCT00798759 Phase 4 Travoprost ophthalmic solution 0.004% with SofZia® preservative system (TRAVATAN Z®);Latanoprost ophthalmic solution 0.005% (XALATAN®)

Search NIH Clinical Center for Intraocular Pressure Quantitative Trait Locus

Cochrane evidence based reviews: glaucoma

Genetic Tests for Intraocular Pressure Quantitative Trait Locus

Genetic tests related to Intraocular Pressure Quantitative Trait Locus:

# Genetic test Affiliating Genes
1 Glaucoma 29

Anatomical Context for Intraocular Pressure Quantitative Trait Locus

MalaCards organs/tissues related to Intraocular Pressure Quantitative Trait Locus:

40
Eye, Endothelial, Retina, Brain, Skin, Heart, Cortex
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Intraocular Pressure Quantitative Trait Locus:
# Tissue Anatomical CompartmentCell Relevance
1 Eye Ganglion Cell Layer Mature Ganglion Cells Affected by disease

Publications for Intraocular Pressure Quantitative Trait Locus

Articles related to Intraocular Pressure Quantitative Trait Locus:

(show top 50) (show all 30158)
# Title Authors PMID Year
1
Influence of Anti-Glaucoma Drugs on Uptake of Extracellular Vesicles by Trabecular Meshwork Cells. 61 42
33603369 2021
2
THE EFFECT OF THERAPY ON THE OCULAR SURFACE IN PATIENTS WITH UNILATERAL PEDIATRIC GLAUCOMA Purpose: The aim of the study was to evaluate ocular surface and. 42 61
33740865 2021
3
VISUAL FIELD ASSESSMENT IN HYPERTENSION GLAUCOMA. 42 61
33740864 2021
4
Identification of novel genetic loci for intraocular pressure: a genomewide scan of the Beaver Dam Eye Study. 57
17210855 2007
5
Development of a gene therapy virus with a glucocorticoid-inducible MMP1 for the treatment of steroid glaucoma. 54 61
20089870 2010
6
Rescue of glaucoma-causing mutant myocilin thermal stability by chemical chaperones. 54 61
20334347 2010
7
Little evidence for association of the glaucoma gene MYOC with open-angle glaucoma. 54 61
20447966 2010
8
Major LOXL1 risk allele is reversed in exfoliation glaucoma in a black South African population. 54 61
20431720 2010
9
Posttranslational modifications, localization, and protein interactions of optineurin, the product of a glaucoma gene. 54 61
20161783 2010
10
Ethnicity-based subgroup meta-analysis of the association of LOXL1 polymorphisms with glaucoma. 54 61
20142848 2010
11
OPA1 increases the risk of normal but not high tension glaucoma. 54 61
19581274 2010
12
Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma. 54 61
19373106 2010
13
Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant. 61 54
20085643 2010
14
Differential effects of myocilin and optineurin, two glaucoma genes, on neurite outgrowth. 61 54
19959812 2010
15
Evaluation of MMP1 and MMP3 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma. 54 61
20038976 2009
16
[New developments in glaucoma medical treatment]. 54 61
19902393 2009
17
Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study. 54 61
19754948 2009
18
From epidemiology to lysyl oxidase like one (LOXL1) polymorphisms discovery: phenotyping and genotyping exfoliation syndrome and exfoliation glaucoma in Iceland. 54 61
19664108 2009
19
CYP1B1, a developmental gene with a potential role in glaucoma therapy. 54 61
19622003 2009
20
Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis. 54 61
19668597 2009
21
Glaucoma-associated myocilin: a better understanding but much more to learn. 61 54
18804106 2009
22
Molecular pathology of pseudoexfoliation syndrome/glaucoma--new insights from LOXL1 gene associations. 54 61
18809397 2009
23
Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes. 54 61
18952915 2009
24
Optineurin and its mutants: molecules associated with some forms of glaucoma. 54 61
19672125 2009
25
Overexpression of myocilin in the Drosophila eye activates the unfolded protein response: implications for glaucoma. 54 61
19148291 2009
26
Investigation of the association between the GLC3A locus and normal tension glaucoma in Japanese patients by microsatellite analysis. 54 61
19668563 2009
27
Genotype-correlated expression of lysyl oxidase-like 1 in ocular tissues of patients with pseudoexfoliation syndrome/glaucoma and normal patients. 61 54
18974306 2008
28
Complex genetics of glaucoma: defects in CYP1B1, and not MYOC, cause pathogenesis in an early-onset POAG patient with double variants at both loci. 54 61
19147912 2008
29
Matrix metalloproteinases and their tissue inhibitors after selective laser trabeculoplasty in pseudoexfoliative secondary glaucoma. 54 61
18939999 2008
30
[Two variants in MYOC and CYP1B1 genes in a Chinese family with primary angle-closure glaucoma]. 54 61
18841557 2008
31
Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma. 54 61
18776955 2008
32
Transthyretin and complex protein pattern in aqueous humor of patients with primary open-angle glaucoma. 54 61
18682810 2008
33
Evaluation of LOXL1 polymorphisms in eyes with exfoliation glaucoma in Japanese. 54 61
18648524 2008
34
Role of the ETB receptor in retinal ganglion cell death in glaucoma. 54 61
18516102 2008
35
LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population. 54 61
18552979 2008
36
Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother. 61 54
18484311 2008
37
Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1. 54 61
18615205 2008
38
Lysyl oxidase-like protein 1 (LOXL1) gene polymorphisms and exfoliation glaucoma in a Central European population. 61 54
18483563 2008
39
Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma. 61 54
18483560 2008
40
Sera of glaucoma patients show autoantibodies against myelin basic protein and complex autoantibody profiles against human optic nerve antigens. 54 61
18193265 2008
41
Evaluation of LOXL1 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma. 54 61
18385788 2008
42
Myocilin allele-specific glaucoma phenotype database. 61 54
17966125 2008
43
Heterozygous expression of myocilin glaucoma mutants increases secretion of the mutant forms and reduces extracellular processed myocilin. 61 54
19023451 2008
44
Role of CYP1B1 in glaucoma. 54 61
17914928 2008
45
Evaluation of LOXL1 polymorphisms in primary open-angle glaucoma in southern and northern Chinese. 54 61
19098994 2008
46
Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes. 61 54
18055790 2007
47
Mitochondrial association of myocilin, product of a glaucoma gene, in human trabecular meshwork cells. 61 54
17516541 2007
48
[A novel mutation in the myocilin gene identified in a Chinese primary open angle glaucoma family]. 54 61
18067072 2007
49
Embryonic expression of the optineurin (glaucoma) gene in different stages of mouse development. 54 61
17893645 2007
50
Interaction between two glaucoma genes, optineurin and myocilin. 61 54
17663725 2007

Variations for Intraocular Pressure Quantitative Trait Locus

ClinVar genetic disease variations for Intraocular Pressure Quantitative Trait Locus:

6 (show top 50) (show all 52)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZEB1 NM_030751.6(ZEB1):c.973C>T (p.Arg325Ter) SNV Pathogenic 374184 rs1057518956 GRCh37: 10:31809236-31809236
GRCh38: 10:31520308-31520308
2 CREBBP NM_004380.3(CREBBP):c.3698G>A (p.Arg1233Lys) SNV Likely pathogenic 374025 rs1057518844 GRCh37: 16:3807289-3807289
GRCh38: 16:3757288-3757288
3 MYOC NM_000261.2(MYOC):c.823A>T (p.Lys275Ter) SNV risk factor 252960 rs879255525 GRCh37: 1:171605757-171605757
GRCh38: 1:171636617-171636617
4 MYOC NM_000261.2(MYOC):c.1408C>T (p.Arg470Cys) SNV Uncertain significance 875032 GRCh37: 1:171605172-171605172
GRCh38: 1:171636032-171636032
5 MYOC NM_000261.2(MYOC):c.304T>A (p.Leu102Met) SNV Uncertain significance 293720 rs140017103 GRCh37: 1:171621448-171621448
GRCh38: 1:171652308-171652308
6 MYOC NM_000261.2(MYOC):c.871G>A (p.Val291Ile) SNV Uncertain significance 293712 rs886045565 GRCh37: 1:171605709-171605709
GRCh38: 1:171636569-171636569
7 MYOC NM_000261.2(MYOC):c.*331A>G SNV Uncertain significance 293703 rs548121911 GRCh37: 1:171604734-171604734
GRCh38: 1:171635594-171635594
8 MYOC NM_000261.2(MYOC):c.728C>A (p.Thr243Asn) SNV Uncertain significance 293714 rs781655611 GRCh37: 1:171607739-171607739
GRCh38: 1:171638599-171638599
9 MYOC NM_000261.2(MYOC):c.*71G>A SNV Uncertain significance 293707 rs886045564 GRCh37: 1:171604994-171604994
GRCh38: 1:171635854-171635854
10 MYOC NM_000261.2(MYOC):c.*182C>A SNV Uncertain significance 293706 rs886045563 GRCh37: 1:171604883-171604883
GRCh38: 1:171635743-171635743
11 MYOC NM_000261.2(MYOC):c.239C>A (p.Thr80Asn) SNV Uncertain significance 293721 rs886045567 GRCh37: 1:171621513-171621513
GRCh38: 1:171652373-171652373
12 MYOC NM_000261.2(MYOC):c.335A>G (p.Glu112Gly) SNV Uncertain significance 293719 rs886045566 GRCh37: 1:171621417-171621417
GRCh38: 1:171652277-171652277
13 MYOC NM_000261.2(MYOC):c.992C>T (p.Ser331Leu) SNV Uncertain significance 293710 rs775982158 GRCh37: 1:171605588-171605588
GRCh38: 1:171636448-171636448
14 MYOC NM_000261.2(MYOC):c.*426C>T SNV Uncertain significance 293702 rs142425726 GRCh37: 1:171604639-171604639
GRCh38: 1:171635499-171635499
15 MYOC NM_000261.2(MYOC):c.*188C>T SNV Uncertain significance 293705 rs886045562 GRCh37: 1:171604877-171604877
GRCh38: 1:171635737-171635737
16 MYOC NM_000261.2(MYOC):c.*241A>G SNV Uncertain significance 293704 rs186880389 GRCh37: 1:171604824-171604824
GRCh38: 1:171635684-171635684
17 MYOC NM_000261.2(MYOC):c.114G>A (p.Arg38=) SNV Uncertain significance 293723 rs767644139 GRCh37: 1:171621638-171621638
GRCh38: 1:171652498-171652498
18 RYR1 NM_000540.2(RYR1):c.10097G>T (p.Arg3366Leu) SNV Uncertain significance 598974 rs137932199 GRCh37: 19:39009932-39009932
GRCh38: 19:38519292-38519292
19 SYNE2 NM_182914.2(SYNE2):c.19624G>T (p.Gly6542Trp) SNV Uncertain significance 598975 rs746433383 GRCh37: 14:64685197-64685197
GRCh38: 14:64218479-64218479
20 MYOC NM_000261.2(MYOC):c.*273G>A SNV Uncertain significance 874097 GRCh37: 1:171604792-171604792
GRCh38: 1:171635652-171635652
21 MYOC NM_000261.2(MYOC):c.568G>T (p.Asp190Tyr) SNV Uncertain significance 293716 rs201930435 GRCh37: 1:171621184-171621184
GRCh38: 1:171652044-171652044
22 MYOC NM_000261.2(MYOC):c.224A>G (p.Gln75Arg) SNV Uncertain significance 293722 rs886045568 GRCh37: 1:171621528-171621528
GRCh38: 1:171652388-171652388
23 MYOC NM_000261.2(MYOC):c.865G>A (p.Asp289Asn) SNV Uncertain significance 293713 rs767627671 GRCh37: 1:171605715-171605715
GRCh38: 1:171636575-171636575
24 MYOC NM_000261.2(MYOC):c.440G>A (p.Arg147Gln) SNV Uncertain significance 293718 rs114283307 GRCh37: 1:171621312-171621312
GRCh38: 1:171652172-171652172
25 MYOC NM_000261.2(MYOC):c.648G>A (p.Lys216=) SNV Uncertain significance 293715 rs141584495 GRCh37: 1:171607819-171607819
GRCh38: 1:171638679-171638679
26 MYOC NM_000261.2(MYOC):c.473G>A (p.Arg158Gln) SNV Uncertain significance 874204 GRCh37: 1:171621279-171621279
GRCh38: 1:171652139-171652139
27 MYOC NM_000261.2(MYOC):c.369C>T (p.Thr123=) SNV Uncertain significance 874205 GRCh37: 1:171621383-171621383
GRCh38: 1:171652243-171652243
28 MYOC NM_000261.2(MYOC):c.1345G>A (p.Val449Ile) SNV Uncertain significance 875033 GRCh37: 1:171605235-171605235
GRCh38: 1:171636095-171636095
29 MYOC NM_000261.2(MYOC):c.801T>C (p.Tyr267=) SNV Uncertain significance 875083 GRCh37: 1:171605779-171605779
GRCh38: 1:171636639-171636639
30 MYOC NM_000261.2(MYOC):c.652G>A (p.Glu218Lys) SNV Uncertain significance 875084 GRCh37: 1:171607815-171607815
GRCh38: 1:171638675-171638675
31 MYOC NM_000261.2(MYOC):c.1272G>C (p.Gln424His) SNV Uncertain significance 875954 GRCh37: 1:171605308-171605308
GRCh38: 1:171636168-171636168
32 MYOC NM_000261.2(MYOC):c.1053C>T (p.Thr351=) SNV Uncertain significance 875956 GRCh37: 1:171605527-171605527
GRCh38: 1:171636387-171636387
33 MYOC NM_000261.2(MYOC):c.612G>A (p.Thr204=) SNV Uncertain significance 876021 GRCh37: 1:171607855-171607855
GRCh38: 1:171638715-171638715
34 MYOC NM_000261.2(MYOC):c.611C>T (p.Thr204Met) SNV Uncertain significance 876022 GRCh37: 1:171607856-171607856
GRCh38: 1:171638716-171638716
35 MYOC NM_000261.2(MYOC):c.600A>G (p.Arg200=) SNV Uncertain significance 876999 GRCh37: 1:171621152-171621152
GRCh38: 1:171652012-171652012
36 MYOC NM_000261.2(MYOC):c.573T>A (p.Thr191=) SNV Uncertain significance 877000 GRCh37: 1:171621179-171621179
GRCh38: 1:171652039-171652039
37 MYOC NM_000261.2(MYOC):c.31T>C (p.Phe11Leu) SNV Uncertain significance 877041 GRCh37: 1:171621721-171621721
GRCh38: 1:171652581-171652581
38 MYOC NM_000261.2(MYOC):c.136C>T (p.Arg46Ter) SNV Likely benign 7955 rs74315337 GRCh37: 1:171621616-171621616
GRCh38: 1:171652476-171652476
39 MYOC NM_000261.2(MYOC):c.34G>C (p.Gly12Arg) SNV Likely benign 876089 GRCh37: 1:171621718-171621718
GRCh38: 1:171652578-171652578
40 MYOC NM_000261.2(MYOC):c.612G>T (p.Thr204=) SNV Likely benign 728934 rs57824969 GRCh37: 1:171607855-171607855
GRCh38: 1:171638715-171638715
41 MYOC NM_000261.2(MYOC):c.1188G>A (p.Glu396=) SNV Likely benign 293708 rs61730975 GRCh37: 1:171605392-171605392
GRCh38: 1:171636252-171636252
42 MYOC NM_000261.2(MYOC):c.1041T>C (p.Tyr347=) SNV Likely benign 293709 rs61730974 GRCh37: 1:171605539-171605539
GRCh38: 1:171636399-171636399
43 MYOC NM_000261.2(MYOC):c.227G>A (p.Arg76Lys) SNV Likely benign 193066 rs2234926 GRCh37: 1:171621525-171621525
GRCh38: 1:171652385-171652385
44 MYOC NM_000261.2(MYOC):c.864C>T (p.Ile288=) SNV Likely benign 874154 GRCh37: 1:171605716-171605716
GRCh38: 1:171636576-171636576
45 MYOC NM_000261.2(MYOC):c.855G>T (p.Thr285=) SNV Likely benign 196241 rs146606638 GRCh37: 1:171605725-171605725
GRCh38: 1:171636585-171636585
46 MYOC NM_000261.2(MYOC):c.39T>G (p.Pro13=) SNV Benign 293724 rs12082573 GRCh37: 1:171621713-171621713
GRCh38: 1:171652573-171652573
47 MYOC NM_000261.2(MYOC):c.975G>A (p.Thr325=) SNV Benign 293711 rs61730976 GRCh37: 1:171605605-171605605
GRCh38: 1:171636465-171636465
48 MYOC NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg) SNV Benign 403218 rs56314834 GRCh37: 1:171605387-171605387
GRCh38: 1:171636247-171636247
49 MYOC NM_000261.2(MYOC):c.477A>G (p.Leu159=) SNV Benign 293717 rs61730977 GRCh37: 1:171621275-171621275
GRCh38: 1:171652135-171652135
50 MYOC NM_000261.2(MYOC):c.1054G>A (p.Glu352Lys) SNV Benign 875955 GRCh37: 1:171605526-171605526
GRCh38: 1:171636386-171636386

Copy number variations for Intraocular Pressure Quantitative Trait Locus from CNVD:

7 (show all 14)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 61504 12 1 3100000 Copy number TULP3 Glaucoma
2 69805 12 56300000 66000000 Copy number Glaucoma
3 69807 12 56300000 66000000 Copy number RASSF3 Glaucoma
4 69808 12 56300000 66000000 Copy number TBK1 Glaucoma
5 69809 12 56300000 66000000 Copy number XPOT Glaucoma
6 69812 12 56300000 66000000 Duplication Glaucoma
7 88183 14 87469110 87529660 Deletion GALC Glaucoma
8 101484 16 3862993 3941884 Deletion Glaucoma
9 154919 20 5000000 17800000 Copy number PAK5 Glaucoma
10 192610 5 115200000 121500000 Copy number DMXL1 Glaucoma
11 192611 5 115200000 121500000 Copy number DTWD2 Glaucoma
12 203721 6 1 7100000 Copy number FOXC1 Glaucoma
13 203722 4 111758028 111782566 Copy number PITX2 Glaucoma
14 38426 10 102495457 102579688 Copy number PAX2 Glaucoma

Expression for Intraocular Pressure Quantitative Trait Locus

Search GEO for disease gene expression data for Intraocular Pressure Quantitative Trait Locus.

Pathways for Intraocular Pressure Quantitative Trait Locus

Pathways related to Intraocular Pressure Quantitative Trait Locus according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.95 ZEB1 TGFB2 CYP1B1 CREBBP
2 11.1 TGFB2 PITX2 CREBBP
3 10.16 SLC4A4 CA4 CA2

GO Terms for Intraocular Pressure Quantitative Trait Locus

Biological processes related to Intraocular Pressure Quantitative Trait Locus according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.97 ZEB1 PITX2 PAX6 FOXC1 EDN1 CREBBP
2 visual perception GO:0007601 9.73 WDR36 PAX6 CYP1B1 CRYAA
3 camera-type eye development GO:0043010 9.58 PITX2 PAX6 FOXC1
4 cardiac muscle cell proliferation GO:0060038 9.51 TGFB2 FOXC1
5 iris morphogenesis GO:0061072 9.48 PITX2 PAX6
6 salivary gland morphogenesis GO:0007435 9.46 TGFB2 PAX6
7 eye development GO:0001654 9.43 TGFB2 PAX6 FOXC1
8 positive regulation of core promoter binding GO:1904798 9.37 PAX6 FOXC1
9 bicarbonate transport GO:0015701 9.33 SLC4A4 CA4 CA2
10 lacrimal gland development GO:0032808 9.32 PAX6 FOXC1
11 dorsal/ventral pattern formation GO:0009953 9.13 PAX6 LMX1B EDN1
12 collagen fibril organization GO:0030199 8.92 TGFB2 LOXL1 FOXC1 CYP1B1

Molecular functions related to Intraocular Pressure Quantitative Trait Locus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydro-lyase activity GO:0016836 8.96 CA4 CA2
2 carbonate dehydratase activity GO:0004089 8.62 CA4 CA2

Sources for Intraocular Pressure Quantitative Trait Locus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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