NPG
MCID: GLC084
MIFTS: 46

Glaucoma, Normal Tension (NPG)

Categories: Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Glaucoma, Normal Tension

MalaCards integrated aliases for Glaucoma, Normal Tension:

Name: Glaucoma, Normal Tension 56
Low Tension Glaucoma 12 54 43 15 17 71
Glaucoma, Normal Tension, Susceptibility to 56 29 13 6 39
Normal Tension Glaucoma 12 73
Ntg 56 73
Npg 56 73
Glaucoma, Normal Pressure, Susceptibility to 56
Glaucoma, Normal Pressure ; Npg 56
Glaucoma, Normal Pressure 73

Classifications:



External Ids:

Disease Ontology 12 DOID:13544
OMIM 56 606657
ICD9CM 34 365.12
SNOMED-CT 67 50485007
ICD10 32 H40.12
MedGen 41 C1847730
UMLS 71 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 ocular hypertension and chronic closed-angle glaucoma, 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 Timolol and Dorzolamide have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and testes, and related phenotypes are homeostasis/metabolism and vision/eye

UniProtKB/Swiss-Prot : 73 Glaucoma, normal pressure: A primary glaucoma characterized by intraocular pression consistently within the statistically normal population range.

Wikipedia : 74 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 147)
# Related Disease Score Top Affiliating Genes
1 ocular hypertension 30.8 WDR36 TMCO1 OPTN MYOC CRYAA
2 chronic closed-angle glaucoma 30.8 MYOC LOXL1
3 keratitis, hereditary 30.7 MYOC CYP1B1 CRYAA
4 optic nerve disease 30.5 WDR36 OPTN OPA1 MYOC EDN1 CRYAA
5 primary angle-closure glaucoma 30.5 OPTN MYOC CYP1B1
6 intraocular pressure quantitative trait locus 30.4 WDR36 TMCO1 OPTN OPA1 MYOC LOXL1
7 anterior segment dysgenesis 30.4 MYOC CYP1B1 CRYAA
8 optic nerve hypoplasia, bilateral 30.4 TMCO1 SRBD1 SIX6 MYOC EDN1
9 leber optic atrophy 30.4 WDR36 OPA1 MYOC CRYAA
10 glaucoma 3, primary congenital, a 30.3 WDR36 OPTN MYOC CYP1B1
11 eye disease 30.1 OPTN MYOC LOXL1 CYP1B1 CRYAA
12 myopia 30.0 WDR36 SIX6 MYOC CRYAA
13 glaucoma-related pigment dispersion syndrome 29.9 WDR36 TMCO1 OPTN MYOC LOXL1 CYP1B1
14 open-angle glaucoma 29.4 WDR36 TMCO1 TBK1 SIX6 OPTN OPA1
15 glaucoma, primary open angle 29.3 WDR36 TMCO1 TBK1 SRBD1 SIX6 OPTN
16 yemenite deaf-blind hypopigmentation syndrome 10.6
17 axenfeld-rieger syndrome, type 2 10.5 WDR36 ASB10
18 morgagni cataract 10.5 LOXL1 CRYAA
19 migraine with or without aura 1 10.5
20 mitochondrial dna depletion syndrome 14 10.5 OPA1-AS1 OPA1
21 early-onset glaucoma 10.5 MYOC CYP1B1
22 traumatic glaucoma 10.4 MYOC CYP1B1
23 retinal vascular occlusion 10.4 LOXL1 EDN1 CRYAA
24 glaucoma 1, open angle, a 10.4 OPTN MYOC CYP1B1
25 acute closed-angle glaucoma 10.4 OPTN MYOC
26 retinal degeneration 10.4
27 excessive tearing 10.4 WDR36 MYOC CYP1B1
28 hydrophthalmos 10.4 WDR36 MYOC CYP1B1
29 microphthalmia, isolated 2 10.4 WDR36 MYOC CYP1B1
30 lens disease 10.4 MYOC LOXL1 CRYAA
31 peripheral retinal degeneration 10.4 WDR36 MYOC
32 alzheimer disease 10.4
33 apnea, obstructive sleep 10.4
34 autonomic dysfunction 10.4
35 steroid-induced glaucoma 10.4 WDR36 OPTN MYOC CRYAA
36 amyotrophic lateral sclerosis 12 10.4 OPTN CRYAA
37 aniridia 1 10.3 MYOC CYP1B1 CRYAA
38 nanophthalmos 10.3 WDR36 SIX6 MYOC LOXL1
39 peripheral nervous system disease 10.3 OPTN OPA1 MYOC CRYAA
40 amyotrophic lateral sclerosis 9 10.3 OPTN CRYAA
41 cranial nerve disease 10.3 WDR36 OPTN OPA1 MYOC CRYAA
42 neuropathy 10.3
43 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 10.3
44 hypercholesterolemia, familial, 1 10.3
45 raynaud phenomenon 10.3
46 goiter 10.3
47 nontoxic goiter 10.3
48 phimosis 10.3 CYP1B1 CRYAA
49 scotoma 10.2
50 retinal vein occlusion 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

Symptoms:

12
  • progressive decreased vision

MGI Mouse Phenotypes related to Glaucoma, Normal Tension:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.73 CAV2 CYP1B1 EDN1 LOXL1 OPA1 OPTN
2 vision/eye MP:0005391 9.28 CYP1B1 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 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Timolol Approved Phase 4 26839-75-8 5478 33624
2
Dorzolamide Approved Phase 4 120279-96-1 5284549 3154
3
Travoprost Approved Phase 4 157283-68-6 5282226
4
Brinzolamide Approved Phase 4 138890-62-7 68844
5
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
6
Dipivefrin Approved Phase 4 52365-63-6 3105
7 Adrenergic beta-Antagonists Phase 4
8 Antihypertensive Agents Phase 4
9 Adrenergic Agents Phase 4
10 Adrenergic Antagonists Phase 4
11 Anti-Arrhythmia Agents Phase 4
12 Neurotransmitter Agents Phase 4
13 Carbonic Anhydrase Inhibitors Phase 4
14 Anti-Infective Agents, Local Phase 4
15 Benzalkonium Compounds Phase 4
16 Anti-Infective Agents Phase 4
17 Adrenergic alpha-Agonists Phase 4
18 Pharmaceutical Solutions Phase 4
19 Adrenergic Agonists Phase 4
20 Ophthalmic Solutions Phase 4
21 Brimonidine Tartrate Phase 4 70359-46-5
22 Ginkgo Phase 2
23 Vitamins Phase 2
24 Cardiac Glycosides Phase 2
25
Phenytoin Approved, Vet_approved 57-41-0 1775
26 Convulsants
27 Anticonvulsants
28
Bilirubin 69853-43-6, 635-65-4 21252250 5280352
29 Anesthetics
30 Proxymetacaine

Interventional clinical trials:

(show top 50) (show all 71)
# 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 Impact of Timolol/Dorzolamide Therapy on Autoregulation in Glaucoma Patients Unknown status NCT02053298 Phase 4 Timolol & Dorzolamide
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 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
5 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%
6 A Prospective, Randomized Study Comparing the Effects of Selective Laser Trabeculoplasty and Travoprost on the Circadian Intraocular Pressure Variation Completed NCT02105311 Phase 4 Travoprost
7 A Multi-center, Randomized, Blinded Evaluator, Active Control, Parallel, Phase IV Study to Evaluate the Efficacy and Safety of Xalost S in Glaucoma Patients. Recruiting NCT04164459 Phase 4 Xalost S;Xalatan;Taflotan-S
8 Changes in Peripapillary Blood Flow After Use of Anti-glaucoma Medications: A Prospective, Quantitative OCT Angiography Study Active, not recruiting NCT03323164 Phase 4 Timolol Maleate;Brimonidine Tartrate
9 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
10 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
11 A Multicenter, Double-Masked, 2-Arm Parallel Group Study Comparing the Effect of Brimonidine 0.2% Versus Timolol 0.5% on Visual Field Stability in Patients With Low-Pressure Glaucoma Completed NCT00317577 Phase 2 brimonidine, timolol
12 The Effect of Ginkgo Biloba on Ocular Blood Flow in Primary Open-Angle Glaucoma Patients: A Double-Blind Randomized Crossover Trial Completed NCT02376114 Phase 2 Ginkgo biloba;Placebo to Ginkgo biloba
13 Assessment of Optic Nerve Radiation in Patients With Glaucoma and Ocular Hypertension by 7 Tesla Diffusion Tensor Imaging Terminated NCT01864317 Phase 2
14 Psychopathology of Normal-tension Glaucoma in Hong Kong Chinese Out-patient Unknown status NCT00324181
15 Evaluation of Blood Flow Regulation With Laser Speckle Flowgraphy in Patients With Normal Tension Glaucoma and Healthy Individuals. Unknown status NCT03391518
16 Laser Speckle Flowgraphy in Patients With Normal Tension Glaucoma - a Pilot Study Unknown status NCT03318510
17 Metabolomics in Surgical Ophthalmological Patients Unknown status NCT03098316
18 Analysis of the Relationship Between Optic Nerve Sheath Diameter and the Spontaneous Venous Pulsation in Primary Open-angle Glaucoma Unknown status NCT01795014
19 Parameters for Disease Progression in Chinese Patients With Normal Tension Glaucoma Unknown status NCT00321386
20 Normal Tension and Chronic Open Angle Glaucoma, Cerebrospinal Fluid Composition in Subarachnoid Space of Affected Optic Nerves Unknown status NCT00306657
21 Clinical Cohort Study of Association Between Steady State Phenytoin Treatment and Better Clinical Parameters of Glaucoma Unknown status NCT00739154
22 Correlation Between Retinal Metabolism and the Observation of a Visible Retinal Spontaneous Venous Pulse Unknown status NCT01794442
23 National Taiwan University Hospital Unknown status NCT00155857
24 Study of Ocular Blood Flow Using Laser Doppler Flowmetry in Patients With Glaucoma and/or OSAS Unknown status NCT00874913
25 Evaluation of Systemic Glutathione Level in Patients With Normal Tension Glaucoma Completed NCT00570362
26 Optic Nerve Head Blood Flow Regulation During Isometric Exercise in Patients With Normal Tension Glaucoma Completed NCT03921372
27 Neuroradiologic Screening of Patients With Normal Tension Glaucoma Completed NCT00175786
28 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
29 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
30 Macular Retinoschisis and Detachment Associated With Glaucomatous Optic Neuropathy But Without Optic Disc Pit Nor High Myopia Completed NCT01862627
31 A New View of Normal Tension Glaucoma: Autoregulation and Systemic Blood Pressure Completed NCT00706056
32 Differences in Nerve Fiber Layer Between Patients With Normal- and High-Pressure-Glaucoma With Similar Structural Optic Nerve Damage Completed NCT01488032
33 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
34 Waveform Analysis of the Doppler Curve of Ophthalmic Arteries in Primary Open-angle and Normal Tension Glaucoma Patients Completed NCT01487655
35 Autonomic Nervous System Activity, Peripheral Microcirculation and Retrobulbar Hemodynamics in Normal Tension Glaucoma Patients. Completed NCT01192061
36 Reduced Serum Bilirubin Levels in Patients With Normal-tension Glaucoma Completed NCT03387306
37 Validation of Retinal Oximetry in Glaucoma Patients: a Structural and Functional Correlation Completed NCT01391247
38 Assessment of Efficacy and Safety of the EX-PRESS® Glaucoma Filtration Device in Patients With Normal Tension Glaucoma Completed NCT02246777
39 Pilot Study on Ambulatory Intraocular Pressure and Blood Pressure Monitoring in Glaucoma Completed NCT01912599
40 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
41 Effect of Brimonidine 0.15% on Retinal Blood Flow Autoregulation and Motion Detection in Patients With Normal Tension Glaucoma Completed NCT01105065 brimonidine 0.15%
42 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
43 Intraocular Pressure Lowering Effects of Topical Anesthetics Used Frequently in the Ophthalmology Clinic Completed NCT01254149
44 Evaluation of Corneal Temperature by Infrared Thermography in Glaucoma Patients Completed NCT02674074
45 Correlation Between Submacular and Peripapillary Choroidal Tissue and Ocular Blood Flow in Glaucoma Patients Completed NCT01840202
46 Correlation of Optic Disk Morphology and Ocular Perfusion Parameters in Patients With Primary Open Angle Glaucoma Completed NCT00803504
47 Messenger Ribonucleic Acid Expression in Lymphocytes of Glaucoma Patients Completed NCT00327509
48 Analysis of Visual Pathways in Glaucoma Patients Using a 3tesla-MRI Completed NCT01621841
49 Correlation of DDLS Grading to OCT, HRT, and HVF Completed NCT00430287
50 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

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:

40
Eye, Retina, Testes, Brain, Skin, T Cells, Endothelial

Publications for Glaucoma, Normal Tension

Articles related to Glaucoma, Normal Tension:

(show top 50) (show all 356)
# Title Authors PMID Year
1
OPA1 increases the risk of normal but not high tension glaucoma. 6 56
19581274 2010
2
Adult-onset primary open-angle glaucoma caused by mutations in optineurin. 56 6
11834836 2002
3
A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene. 56 6
11810296 2002
4
Prevalence of glaucoma and intraocular pressure distribution in a defined population. The Egna-Neumarkt Study. 61 56
9479277 1998
5
Relationship between intraocular pressure and primary open angle glaucoma among white and black Americans. The Baltimore Eye Survey. 61 56
1867550 1991
6
The OPA1 gene polymorphism is associated with normal tension and high tension glaucoma. 6
17188046 2007
7
Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma. 6
12073024 2002
8
T cell subsets and sIL-2R/IL-2 levels in patients with glaucoma. 56
11292402 2001
9
Number of people with glaucoma worldwide. 56
8695555 1996
10
Global data on blindness. 56
7704921 1995
11
Color Doppler imaging and plasma levels of endothelin-1 in low-tension glaucoma. 61 54
9589707 1997
12
Short-Term Efficacy and Safety of Switching from a Latanoprost/Timolol Fixed Combination to a Latanoprost/Carteolol Fixed Combination. 61
32440086 2020
13
Corneal hysteresis and glaucoma. 61
30187195 2019
14
[Microinvasive glaucoma surgery-Efficacy of trabecular stents in combined interventions : A clinical study on 65 eyes]. 61
30560280 2019
15
Transient ciliochoroidal detachment after 360-degree suture trabeculotomy ab interno for open-angle glaucoma: 12-month follow-up. 61
30792522 2019
16
Quantitative Analysis of Retinal and Choroidal Vascular Parameters in Patients With Low Tension Glaucoma. 61
30889061 2019
17
Melatonin Levels in Patients With Primary Open-angle Glaucoma With High or Low Intraocular Pressure. 61
30394980 2019
18
A nationwide survey of factors influencing adherence to ocular hypotensive eyedrops in Japan. 61
29330811 2019
19
Low-Tension Glaucoma: An Oxymoron in Ophthalmology. 61
30676934 2019
20
Efficacy and Safety of Switching Prostaglandin Analog Monotherapy to Tafluprost/Timolol Fixed-Combination Therapy. 61
29675274 2018
21
Ocular pulse amplitude in different types of glaucoma using dynamic contour tonometry: Diagnosis and follow-up of glaucoma. 61
29104631 2017
22
Are All Retinal Nerve Fiber Layer Defects on Optic Coherence Tomography Glaucomatous? 61
29109895 2017
23
Bilateral normal tension glaucoma: Can this be nutritional? 61
28724826 2017
24
Predictive role of neutrophil-to-lymphocyte ratio and platelet-to-lymphocyte ratio in normal-tension glaucoma. 61
28571810 2017
25
Identification of the Most Accurate Spectral-domain Optical Coherence Tomography Parameters in Eyes With Early High-Tension and Low-Tension Glaucoma. 61
26950577 2016
26
Increased Intraocular Pressure in a Patient With Septooptic Dysplasia: A Case Report. 61
27136085 2016
27
Opportunistic detection of glaucomatous optic discs within a diabetic retinopathy screening service. 61
26692063 2016
28
Comparison of the Progression of High- and Low-tension Glaucoma as Determined by Two Different Criteria. 61
26865802 2016
29
Detection of Glaucoma and Its Association With Diabetic Retinopathy in a Diabetic Retinopathy Screening Program. 61
25264989 2016
30
SQSTM1 Mutations and Glaucoma. 61
27275741 2016
31
Gold shunt for refractory advanced low-tension glaucoma with spared central acuity. 61
27051320 2016
32
Diagnostic Ability of Retinal Vessel Diameter Measurements in Open-Angle Glaucoma. 61
26670828 2015
33
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
34
Comparison of primary open-angle glaucoma and exfoliation glaucoma at diagnosis. 61
25198170 2015
35
Giant prolactinoma mimicking low-tension glaucoma at presentation. 61
25661749 2015
36
Vascular comorbidity in patients with low-tension glaucoma. 61
25044141 2014
37
Glaucoma and CNS. Comparison of fMRI results in high tension and normal tension glaucoma. 61
23733146 2014
38
Cerebral blood flow in glaucoma patients. 61
23733128 2013
39
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
40
Glaucoma risk alleles at CDKN2B-AS1 are associated with lower intraocular pressure, normal-tension glaucoma, and advanced glaucoma. 61
22521085 2012
41
[Effectiveness of selective laser trabeculoplasty in patients with insufficient control of intraocular pressure despite maximum tolerated medical therapy]. 61
22555462 2012
42
Conjunctival findings in hyperbaric and low-tension glaucoma: an in vivo confocal microscopy study. 61
21955651 2012
43
Selective laser trabeculoplasty. 61
23275911 2012
44
The association between glaucomatous and other causes of optic neuropathy and sleep apnea. 61
21851924 2011
45
An hypothesis on pressure transmission from anterior chamber to optic nerve. 61
21855227 2011
46
The intraocular pressure reducing effect of brinzolamide as adjunctive therapy to latanoprost. 61
21651425 2011
47
Normal-tension glaucoma (Low-tension glaucoma). 61
21150042 2011
48
[Ocular risks in obstructive sleep apnea syndrome]. 61
20532520 2010
49
Progressive hydroxychloroquine toxicity mimicking low-tension glaucoma after discontinuation of the drug. 61
18937815 2010
50
[Multifactorial molecular genetics in glaucoma]. 61
21516857 2010

Variations for Glaucoma, Normal Tension

ClinVar genetic disease variations for Glaucoma, Normal Tension:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OPA1 NM_015560.2(OPA1):c.599C>T (p.Ser200Phe)SNV Conflicting interpretations of pathogenicity 344482 rs200243596 3:193336700-193336700 3:193618911-193618911
2 OPTN NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)SNV Benign/Likely benign 7099 rs11258194 10:13152400-13152400 10:13110400-13110400
3 OPA1 NM_015560.2(OPA1):c.870+32T>CSNV Benign 95730 rs10451941 3:193355102-193355102 3:193637313-193637313
4 OPA1 NM_015560.2(OPA1):c.870+4=SNV no interpretation for the single variant 375732 rs166850 3:193355074-193355074 3:193637285-193637285

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 11.21 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 regulation of cell size GO:0008361 9.16 VAV3 VAV2
2 visual perception GO:0007601 9.02 WDR36 SIX6 OPA1 CYP1B1 CRYAA
3 positive regulation of xenophagy GO:1904417 8.96 TBK1 OPTN

Sources for Glaucoma, Normal Tension

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
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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