Glaucoma, Normal Tension (NPG)

Categories: Cardiovascular diseases, Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Glaucoma, Normal Tension

MalaCards integrated aliases for Glaucoma, Normal Tension:

Name: Glaucoma, Normal Tension 57
Low Tension Glaucoma 12 54 44 15 17 70
Glaucoma, Normal Tension, Susceptibility to 57 29 13 6 39
Normal Tension Glaucoma 12 72
Ntg 57 72
Npg 57 72
Glaucoma, Normal Pressure, Susceptibility to 57
Glaucoma, Normal Pressure ; Npg 57
Glaucoma, Normal Pressure 72


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Disease Ontology 12 DOID:13544
OMIM® 57 606657
ICD9CM 34 365.12
SNOMED-CT 67 155124000
ICD10 32 H40.12
MedGen 41 C1847730
UMLS 70 C0152136

Summaries for Glaucoma, Normal Tension

Disease Ontology : 12 An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has symptom progressive decreased vision and progressive loss of peripheral vision.

MalaCards based summary : Glaucoma, Normal Tension, also known as low tension glaucoma, is related to optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy and optic nerve disease, and has symptoms including progressive decreased vision An important gene associated with Glaucoma, Normal Tension is OPTN (Optineurin), and among its related pathways/superpathways are Yersinia infection and EPHA2 forward signaling. The drugs Travoprost and Brinzolamide have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and pituitary, and related phenotype is vision/eye.

UniProtKB/Swiss-Prot : 72 Glaucoma, normal pressure: A primary glaucoma characterized by intraocular pression consistently within the statistically normal population range.

Wikipedia : 73 Normal tension glaucoma (NTG) is an eye disease, a neuropathy of the optic nerve, that shows all the... more...

More information from OMIM: 606657

Related Diseases for Glaucoma, Normal Tension

Diseases related to Glaucoma, Normal Tension via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 155)
# Related Disease Score Top Affiliating Genes
1 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 30.9 OPA1-AS1 OPA1
2 optic nerve disease 30.8 WDR36 OPTN OPA1 MYOC EDN1 CRYAA
3 ocular hypertension 30.7 WDR36 TMCO1 OPTN MYOC CRYAA
4 chronic closed-angle glaucoma 30.6 MYOC LOXL1 CAV2
5 intraocular pressure quantitative trait locus 30.5 WDR36 TMCO1 OPTN OPA1 MYOC LOXL1
6 glaucoma 3, primary congenital, a 30.4 WDR36 OPTN MYOC
7 anterior segment dysgenesis 30.3 WDR36 TMCO1 SIX6 MYOC CRYAA
8 leber hereditary optic neuropathy, modifier of 30.3 WDR36 OPA1 MYOC CRYAA
9 axenfeld-rieger syndrome 30.3 WDR36 MYOC CRYAA ASB10
10 optic nerve hypoplasia, bilateral 30.2 TMCO1 SRBD1 SIX6 MYOC EDN1 ATOH7
11 glaucoma-related pigment dispersion syndrome 30.0 WDR36 TMCO1 SIX6 OPTN MYOC LOXL1
12 myopia 29.9 WDR36 SIX6 MYOC CRYAA
13 open-angle glaucoma 29.6 WDR36 TMCO1 TBK1 SIX6 OPTN OPA1
14 glaucoma, primary open angle 29.5 WDR36 TMCO1 TBK1 SRBD1 SIX6 OPTN
15 yemenite deaf-blind hypopigmentation syndrome 10.6
16 retinal degeneration 10.4
17 apnea, obstructive sleep 10.4
18 autonomic dysfunction 10.4
19 morgagni cataract 10.4 LOXL1 CRYAA
20 glaucoma 1, open angle, a 10.4 OPTN MYOC
21 axenfeld-rieger syndrome, type 2 10.4 WDR36 ASB10
22 mitochondrial dna depletion syndrome 14 10.4 OPA1-AS1 OPA1
23 retinal vascular disease 10.4
24 acute closed-angle glaucoma 10.3 OPTN MYOC
25 excessive tearing 10.3 WDR36 MYOC
26 traumatic glaucoma 10.3 TMCO1 MYOC LOXL1
27 amyotrophic lateral sclerosis type 12 10.3 OPTN LOC108903148 CRYAA
28 retinal vascular occlusion 10.3 LOXL1 EDN1 CRYAA
29 alzheimer disease 10.3
30 hypercholesterolemia, familial, 1 10.3
31 retinal vein occlusion 10.3
32 raynaud phenomenon 10.3
33 microphthalmia, isolated 2 10.3 WDR36 MYOC
34 steroid-induced glaucoma 10.3 WDR36 MYOC CRYAA
35 uveal disease 10.3 MYOC LOXL1 CRYAA
36 anterior segment dysgenesis 7 10.3 SIX6 ATOH7
37 lens disease 10.3 MYOC LOXL1 CRYAA
38 central retinal artery occlusion 10.3 EDN1 CRYAA
39 leukocoria 10.3 CRYAA ATOH7
40 peripheral retinal degeneration 10.3 WDR36 MYOC
41 hydrocephalus 10.3
42 normal pressure hydrocephalus 10.3
43 scotoma 10.3
44 hydrophthalmos 10.3 WDR36 MYOC
45 iris disease 10.3 WDR36 MYOC LOXL1 CRYAA
46 glaucoma 1, open angle, d 10.3 OPTN MYOC LOC108903148 ASB10
47 amyotrophic lateral sclerosis 12 with or without frontotemporal dementia 10.2 OPTN LOC108903148
48 migraine with or without aura 1 10.2
49 blood group--newfoundland 10.2
50 glaucoma and sleep apnea 10.2

Graphical network of the top 20 diseases related to Glaucoma, Normal Tension:

Diseases related to Glaucoma, Normal Tension

Symptoms & Phenotypes for Glaucoma, Normal Tension

Clinical features from OMIM®:

606657 (Updated 20-May-2021)


  • progressive decreased vision

MGI Mouse Phenotypes related to Glaucoma, Normal Tension:

# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.28 ATOH7 LOXL1 MYOC OPA1 SIX6 SLC1A3

Drugs & Therapeutics for Glaucoma, Normal Tension

Drugs for Glaucoma, Normal Tension (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Travoprost Approved Phase 4 157283-68-6 5282226
Brinzolamide Approved Phase 4 138890-62-7 68844
Timolol Approved Phase 4 26839-75-8 33624 5478
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
Maleic acid Experimental Phase 4 110-16-7 444266
6 Adrenergic alpha-Agonists Phase 4
7 Pharmaceutical Solutions Phase 4
8 Adrenergic Agonists Phase 4
9 Ophthalmic Solutions Phase 4
10 Adrenergic Agents Phase 4
11 Neurotransmitter Agents Phase 4
12 Antihypertensive Agents Phase 4
13 Brimonidine Tartrate Phase 4 70359-46-5
14 Carbonic Anhydrase Inhibitors Phase 4
15 Anti-Arrhythmia Agents Phase 4
16 Adrenergic beta-Antagonists Phase 4
17 Adrenergic Antagonists Phase 4
Dorzolamide Approved Phase 2 120279-96-1 3154 5284549
Phenytoin Approved, Vet_approved 57-41-0 1775
Latanoprost Approved, Investigational 130209-82-4 5282380 5311221
Dipivefrin Approved 52365-63-6 3105
22 Anticonvulsants
23 Convulsants
Bilirubin 635-65-4 5280352
25 Anesthetics
26 Ginkgo

Interventional clinical trials:

(show all 50)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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%
4 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%
5 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
6 A Multicenter, Randomized, Placebo-controlled, Double-blind, Dose-finding Phase 2 Clinical Trial to Evaluate the Efficacy in Reduction of Intraocular Pressure and Safety of PHP-201 in Patients With Normal Tension Glaucoma Completed NCT03106532 Phase 2 PHP-201 0.25% ophthalmic solution;PHP-201 0.5% ophthalmic solution;Placebo ophthalmic solution
7 Prospective, Open-label, Single-arm Study to Evaluate Efficacy and Safety of Combination Therapy of Timolol and Dorzolamide (COSOPT) as Initial Treatment for Patients With Normal Tension Glaucoma Completed NCT00832377 Phase 2 timolol/dorzolamide combination
8 Assessment of Optic Nerve Radiation in Patients With Glaucoma and Ocular Hypertension by 7 Tesla Diffusion Tensor Imaging Terminated NCT01864317 Phase 2
9 Study of Ocular Blood Flow Using Laser Doppler Flowmetry in Patients With Glaucoma and/or OSAS Unknown status NCT00874913
10 Evaluation of Blood Flow Regulation With Laser Speckle Flowgraphy in Patients With Normal Tension Glaucoma and Healthy Individuals. Unknown status NCT03391518
11 Laser Speckle Flowgraphy in Patients With Normal Tension Glaucoma - a Pilot Study Unknown status NCT03318510
12 Psychopathology of Normal-tension Glaucoma in Hong Kong Chinese Out-patient Unknown status NCT00324181
13 Parameters for Disease Progression in Chinese Patients With Normal Tension Glaucoma Unknown status NCT00321386
14 Clinical Cohort Study of Association Between Steady State Phenytoin Treatment and Better Clinical Parameters of Glaucoma Unknown status NCT00739154
15 Analysis of the Relationship Between Optic Nerve Sheath Diameter and the Spontaneous Venous Pulsation in Primary Open-angle Glaucoma Unknown status NCT01795014
16 Correlation Between Retinal Metabolism and the Observation of a Visible Retinal Spontaneous Venous Pulse Unknown status NCT01794442
17 Metabolomics in Surgical Ophthalmological Patients Unknown status NCT03098316
18 The Effect of Mozart Music on Visual Field Testing in Glaucoma Patients: Will Music Tame the Savage Perimeter? Completed NCT01027039
19 Validation of Retinal Oximetry in Glaucoma Patients: a Structural and Functional Correlation Completed NCT01391247
20 Correlation of DDLS Grading to OCT, HRT, and HVF Completed NCT00430287
21 Pathological Cerebral Venous Drainage System Giving Large Pressure Difference Between Brain and Eye at Upright Posture: a Possible Cause to Normal Tension Glaucoma. Completed NCT02776449
22 To Prove the Non-inferiority of Cosopt Compared to Xalatan in the Aspects of Intraocular Pressure and Ocular Perfusion Pressure in Subjects With Normal Tension Glaucoma Completed NCT01175902 dorzolamide/timolol;latanoprost
23 A New View of Normal Tension Glaucoma: Autoregulation and Systemic Blood Pressure Completed NCT00706056
24 Reduced Serum Bilirubin Levels in Patients With Normal-tension Glaucoma Completed NCT03387306
25 Intraocular Pressure Lowering Effects of Topical Anesthetics Used Frequently in the Ophthalmology Clinic Completed NCT01254149
26 Autonomic Nervous System Activity, Peripheral Microcirculation and Retrobulbar Hemodynamics in Normal Tension Glaucoma Patients. Completed NCT01192061
27 Evaluation of Systemic Glutathione Level in Patients With Normal Tension Glaucoma Completed NCT00570362
28 Pilot Study on Ambulatory Intraocular Pressure and Blood Pressure Monitoring in Glaucoma Completed NCT01912599
29 Neuroradiologic Screening of Patients With Normal Tension Glaucoma Completed NCT00175786
30 Differences in Nerve Fiber Layer Between Patients With Normal- and High-Pressure-Glaucoma With Similar Structural Optic Nerve Damage Completed NCT01488032
31 Prospective, Observational Study to Investigate the Long-term Effect of Xalatan® on Intraocular Pressure (IOP) and on Maintenance of Visual Field in Patients With Normal Tension Glaucoma (NTG) Completed NCT01209624
32 Optic Nerve Head Blood Flow Regulation During Isometric Exercise in Patients With Normal Tension Glaucoma Completed NCT03921372
33 Waveform Analysis of the Doppler Curve of Ophthalmic Arteries in Primary Open-angle and Normal Tension Glaucoma Patients Completed NCT01487655
34 Comparison of Ganglion Cell and Retinal Nerve Fiber Layer Thickness in Primary Open Angle Glaucoma and Normal Tension Glaucoma With Spectral Domain OCT Completed NCT01612416
35 Effect of Brimonidine 0.15% on Retinal Blood Flow Autoregulation and Motion Detection in Patients With Normal Tension Glaucoma Completed NCT01105065 brimonidine 0.15%
36 Assessment of Efficacy and Safety of the EX-PRESS® Glaucoma Filtration Device in Patients With Normal Tension Glaucoma Completed NCT02246777
37 Phase 4 Study Evaluating the Relationship Between Intraocular Pressure and Central Corneal Thickness Using Various Instruments in Ocular Hypertension, Normal-tension Glaucoma, Primary Open Angle Glaucoma, Keratoconus and Normal Eyes. Completed NCT00347191
38 Advanced Glycation End Products as a Biomarker for Accelerated Ageing in Glaucomatous Optic Neuropathy Completed NCT02863224
39 Macular Retinoschisis and Detachment Associated With Glaucomatous Optic Neuropathy But Without Optic Disc Pit Nor High Myopia Completed NCT01862627
40 Correlation Between Submacular and Peripapillary Choroidal Tissue and Ocular Blood Flow in Glaucoma Patients Completed NCT01840202
41 Correlation Between Ocular Blood Flow and the Optic Nerve Sheath Diameter in Patients With Primary Open-angle Glaucoma Completed NCT01802463
42 A Single Center, Prospective, Open Label Study Assessing the Relationship Between the 24-hour Intraocular Pressure Pattern as Determined by Sensimed Triggerfish® and the 24-hour Blood Pressure Pattern in Patients With Primary Open Angle Glaucoma Completed NCT01769521
43 Measurement of the Effect of Gingko Biloba Extract on Ocular and Nailfold Blood-flow in Normaltension Glaucoma by Ocular Coherence Tomography Angiography and Nailfold Capillaroscopy Recruiting NCT03761992
44 Endoscopic Cyclophotocoagulation in Normal Tension Glaucoma Recruiting NCT04651530
45 Investigation of Neurovascular Coupling in Glaucoma Patients and Healthy Subjects Recruiting NCT03870230
46 Dresden Glaucoma and Treatment Study: Analysis to Assure the Quality of Follow-up and Therapy of Glaucoma Patients in a Tertiary University Hospital Glaucoma Service. Recruiting NCT02959242
47 Computer-aided Diagnosis of Ocular Diseases Based on Corneal Biomechanics - Selection and Evaluation of Eligible Patients With Certain Ocular Diseases Associated With Biomechanical Alterations Recruiting NCT04475900
48 Prospective, Non-randomised, Non-controlled Study of Reproducibility of Blood Flowmetry in Human Retina Using the Nidek Laser Speckle Flowgraphy LSFG-NAVI System Recruiting NCT04014933
49 Assessing Ocular Hemodynamic Response to Surgical Intervention in Glaucoma Terminated NCT02891317
50 The Antioxidant Effect of Routine Vascular Therapy for Normal Tension Glaucoma Patients Withdrawn NCT00465348

Search NIH Clinical Center for Glaucoma, Normal Tension

Cochrane evidence based reviews: low tension glaucoma

Genetic Tests for Glaucoma, Normal Tension

Genetic tests related to Glaucoma, Normal Tension:

# Genetic test Affiliating Genes
1 Glaucoma, Normal Tension, Susceptibility to 29 OPA1 OPTN

Anatomical Context for Glaucoma, Normal Tension

MalaCards organs/tissues related to Glaucoma, Normal Tension:

Eye, Retina, Pituitary, Brain, Endothelial, Neutrophil, Heart

Publications for Glaucoma, Normal Tension

Articles related to Glaucoma, Normal Tension:

(show top 50) (show all 359)
# Title Authors PMID Year
OPA1 increases the risk of normal but not high tension glaucoma. 6 57
19581274 2010
Adult-onset primary open-angle glaucoma caused by mutations in optineurin. 57 6
11834836 2002
A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene. 6 57
11810296 2002
Prevalence of glaucoma and intraocular pressure distribution in a defined population. The Egna-Neumarkt Study. 57 61
9479277 1998
Relationship between intraocular pressure and primary open angle glaucoma among white and black Americans. The Baltimore Eye Survey. 57 61
1867550 1991
The OPA1 gene polymorphism is associated with normal tension and high tension glaucoma. 6
17188046 2007
Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma. 6
12073024 2002
T cell subsets and sIL-2R/IL-2 levels in patients with glaucoma. 57
11292402 2001
Number of people with glaucoma worldwide. 57
8695555 1996
Global data on blindness. 57
7704921 1995
Color Doppler imaging and plasma levels of endothelin-1 in low-tension glaucoma. 54 61
9589707 1997
Intraocular pressure-lowering effects of ripasudil, a rho-kinase inhibitor, and selective laser trabeculoplasty as adjuvant therapy in patients with uncontrolled glaucoma. 61
33079310 2021
Obstructive sleep apnea as a risk factor for primary open angle glaucoma and ocular hypertension in a monocentric pilot study. 61
33032589 2020
Comparison and Correlation of Retinal Sensitivity Between Microperimetry and Standard Automated Perimetry in Low-tension Glaucoma. 61
32649448 2020
Short-Term Efficacy and Safety of Switching from a Latanoprost/Timolol Fixed Combination to a Latanoprost/Carteolol Fixed Combination. 61
32440086 2020
Corneal hysteresis and glaucoma. 61
30187195 2019
[Microinvasive glaucoma surgery-Efficacy of trabecular stents in combined interventions : A clinical study on 65 eyes]. 61
30560280 2019
Transient ciliochoroidal detachment after 360-degree suture trabeculotomy ab interno for open-angle glaucoma: 12-month follow-up. 61
30792522 2019
Quantitative Analysis of Retinal and Choroidal Vascular Parameters in Patients With Low Tension Glaucoma. 61
30889061 2019
A nationwide survey of factors influencing adherence to ocular hypotensive eyedrops in Japan. 61
29330811 2019
Melatonin Levels in Patients With Primary Open-angle Glaucoma With High or Low Intraocular Pressure. 61
30394980 2019
Low-Tension Glaucoma: An Oxymoron in Ophthalmology. 61
30676934 2019
Efficacy and Safety of Switching Prostaglandin Analog Monotherapy to Tafluprost/Timolol Fixed-Combination Therapy. 61
29675274 2018
Ocular pulse amplitude in different types of glaucoma using dynamic contour tonometry: Diagnosis and follow-up of glaucoma. 61
29104631 2017
Are All Retinal Nerve Fiber Layer Defects on Optic Coherence Tomography Glaucomatous? 61
29109895 2017
Bilateral normal tension glaucoma: Can this be nutritional? 61
28724826 2017
Predictive role of neutrophil-to-lymphocyte ratio and platelet-to-lymphocyte ratio in normal-tension glaucoma. 61
28571810 2017
Identification of the Most Accurate Spectral-domain Optical Coherence Tomography Parameters in Eyes With Early High-Tension and Low-Tension Glaucoma. 61
26950577 2016
Increased Intraocular Pressure in a Patient With Septooptic Dysplasia: A Case Report. 61
27136085 2016
Opportunistic detection of glaucomatous optic discs within a diabetic retinopathy screening service. 61
26692063 2016
Comparison of the Progression of High- and Low-tension Glaucoma as Determined by Two Different Criteria. 61
26865802 2016
Detection of Glaucoma and Its Association With Diabetic Retinopathy in a Diabetic Retinopathy Screening Program. 61
25264989 2016
SQSTM1 Mutations and Glaucoma. 61
27275741 2016
Gold shunt for refractory advanced low-tension glaucoma with spared central acuity. 61
27051320 2016
Diagnostic Ability of Retinal Vessel Diameter Measurements in Open-Angle Glaucoma. 61
26670828 2015
Fixed Combination of Travoprost and Timolol Maleate Reduces Intraocular Pressure in Japanese Patients with Primary Open-Angle Glaucoma or Ocular Hypertension: A Prospective Multicenter Open-Label Study. 61
26424331 2015
Comparison of primary open-angle glaucoma and exfoliation glaucoma at diagnosis. 61
25198170 2015
Giant prolactinoma mimicking low-tension glaucoma at presentation. 61
25661749 2015
Vascular comorbidity in patients with low-tension glaucoma. 61
25044141 2014
Glaucoma and CNS. Comparison of fMRI results in high tension and normal tension glaucoma. 61
23733146 2014
Cerebral blood flow in glaucoma patients. 61
23733128 2013
Molecular genetic analysis of primary open-angle glaucoma, normal tension glaucoma, and developmental glaucoma for the VAV2 and VAV3 gene variants in Japanese subjects. 61
23402756 2013
Glaucoma risk alleles at CDKN2B-AS1 are associated with lower intraocular pressure, normal-tension glaucoma, and advanced glaucoma. 61
22521085 2012
[Effectiveness of selective laser trabeculoplasty in patients with insufficient control of intraocular pressure despite maximum tolerated medical therapy]. 61
22555462 2012
Conjunctival findings in hyperbaric and low-tension glaucoma: an in vivo confocal microscopy study. 61
21955651 2012
Selective laser trabeculoplasty. 61
23275911 2012
The association between glaucomatous and other causes of optic neuropathy and sleep apnea. 61
21851924 2011
An hypothesis on pressure transmission from anterior chamber to optic nerve. 61
21855227 2011
The intraocular pressure reducing effect of brinzolamide as adjunctive therapy to latanoprost. 61
21651425 2011
Normal-tension glaucoma (Low-tension glaucoma). 61
21150042 2011

Variations for Glaucoma, Normal Tension

ClinVar genetic disease variations for Glaucoma, Normal Tension:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OPA1 NM_015560.2(OPA1):c.870+4= SNV risk factor 5089 rs166850 GRCh37: 3:193355074-193355074
GRCh38: 3:193637285-193637285
2 LOC108903148 , OPTN NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) SNV risk factor 7099 rs11258194 GRCh37: 10:13152400-13152400
GRCh38: 10:13110400-13110400
3 OPA1-AS1 , OPA1 NM_015560.2(OPA1):c.599C>T (p.Ser200Phe) SNV Uncertain significance 344482 rs200243596 GRCh37: 3:193336700-193336700
GRCh38: 3:193618911-193618911

Expression for Glaucoma, Normal Tension

Search GEO for disease gene expression data for Glaucoma, Normal Tension.

Pathways for Glaucoma, Normal Tension

Pathways related to Glaucoma, Normal Tension according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.27 VAV3 VAV2 TBK1
2 9.85 VAV3 VAV2

GO Terms for Glaucoma, Normal Tension

Biological processes related to Glaucoma, Normal Tension according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection assembly GO:0030031 9.26 VAV3 VAV2
2 visual perception GO:0007601 9.26 WDR36 SIX6 OPA1 CRYAA
3 regulation of cell size GO:0008361 9.16 VAV3 VAV2
4 positive regulation of xenophagy GO:1904417 8.62 TBK1 OPTN

Sources for Glaucoma, Normal Tension

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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