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GLC1F
MCID: GLC078
MIFTS: 34

Glaucoma 1, Open Angle, F (GLC1F)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Glaucoma 1, Open Angle, F

About this section

MalaCards integrated aliases for Glaucoma 1, Open Angle, F:

Name: Glaucoma 1, Open Angle, F 57 72 29 13 6 70
Glc1f 57 72
Glaucoma, Primary Open Angle, Adult-Onset 57
Adult-Onset Primary Open Angle Glaucoma 72
Primary Open Angle Glaucoma 1f 72
Glaucoma, Primary Open Angle 70
Poag 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
age at diagnosis, 40-70 years


HPO:

31
glaucoma 1, open angle, f:
Inheritance autosomal dominant inheritance


Classifications:

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


External Ids:

OMIM® 57 603383
MeSH 44 D005902
MedGen 41 C1863926
UMLS 70 C0339573 C1863926
Sources

Summaries for Glaucoma 1, Open Angle, F

About this section
UniProtKB/Swiss-Prot : 72 Glaucoma 1, open angle, F: 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.

MalaCards based summary : Glaucoma 1, Open Angle, F, also known as glc1f, is related to glaucoma, primary open angle and glaucoma 1, open angle, p. An important gene associated with Glaucoma 1, Open Angle, F is ASB10 (Ankyrin Repeat And SOCS Box Containing 10). The drugs Bimatoprost and Timolol have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are ocular hypertension and open angle glaucoma

More information from OMIM: 603383
Sources

Related Diseases for Glaucoma 1, Open Angle, F

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Diseases in the Open-Angle Glaucoma family:

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

Diseases related to Glaucoma 1, Open Angle, F via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 glaucoma, primary open angle 11.7
2 glaucoma 1, open angle, p 11.2
3 intraocular pressure quantitative trait locus 11.1
4 glaucoma 1, open angle, g 11.1
5 glaucoma 1, open angle, a 11.1
6 glaucoma 1, open angle, o 11.0
7 open-angle glaucoma 10.8
8 yemenite deaf-blind hypopigmentation syndrome 10.5
9 glaucoma 1, primary open angle, c 10.3
10 glaucoma 1, open angle, b 10.3
11 optic nerve disease 10.2
12 amyotrophic lateral sclerosis 1 10.2
13 optic atrophy 1 10.2
14 glaucoma, normal tension 10.2
15 glaucoma 1, open angle, h 10.2
16 amyotrophic lateral sclerosis 12 with or without frontotemporal dementia 10.2
17 amyotrophic lateral sclerosis type 12 10.2
18 ocular hypertension 10.1
19 primary congenital glaucoma 10.1
20 exfoliation syndrome 10.0
21 glaucoma 3, primary congenital, a 10.0
22 primary angle-closure glaucoma 10.0
23 chronic closed-angle glaucoma 10.0
24 dowling-degos disease 1 9.8
25 xeroderma pigmentosum, complementation group d 9.8
26 xeroderma pigmentosum, variant type 9.8
27 glaucoma 1, open angle, d 9.8
28 homocysteinemia 9.8
29 hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 9.8
30 glaucoma 1, open angle, i 9.8
31 rapidly involuting congenital hemangioma 9.8
32 sensorineural hearing loss 9.8
33 juvenile glaucoma 9.8
34 allergic disease 9.8
35 retinal vein occlusion 9.8

Graphical network of the top 20 diseases related to Glaucoma 1, Open Angle, F:



Diseases related to Glaucoma 1, Open Angle, F
Sources

Symptoms & Phenotypes for Glaucoma 1, Open Angle, F

About this section

Human phenotypes related to Glaucoma 1, Open Angle, F:

31
# Description HPO Frequency HPO Source Accession
1 ocular hypertension 31 HP:0007906
2 open angle glaucoma 31 HP:0012108
3 increased cup-to-disc ratio 31 HP:0012796
4 glaucomatous visual field defect 31 HP:0007854

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
visual field defects
primary open-angle glaucoma
optic nerve cupping
high intraocular pressure (>22 mmhg)
increased optic cup-disc ratio (> 0.6)

Clinical features from OMIM®:

603383 (Updated 05-Apr-2021)

Sources

Drugs & Therapeutics for Glaucoma 1, Open Angle, F

About this section

Drugs for Glaucoma 1, Open Angle, F (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 45)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
2
Timolol Approved Phase 4 26839-75-8 33624 5478
3
Travoprost Approved Phase 4 157283-68-6 5282226
4
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
5
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
6 Antihypertensive Agents Phase 4
7 Anti-Arrhythmia Agents Phase 4
8 Adrenergic Antagonists Phase 4
9 Adrenergic Agents Phase 4
10 Adrenergic beta-Antagonists Phase 4
11 Neurotransmitter Agents Phase 4
12 Adrenergic alpha-Agonists Phase 4
13 Adrenergic Agonists Phase 4
14 Brimonidine Tartrate Phase 4 70359-46-5
15 Antibiotics, Antitubercular Phase 4
16 Gastrointestinal Agents Phase 4
17 glucocorticoids Phase 4
18 Hormone Antagonists Phase 4
19 Antiemetics Phase 4
20 Hormones Phase 4
21 Antineoplastic Agents, Hormonal Phase 4
22 Anti-Bacterial Agents Phase 4
23 Anti-Inflammatory Agents Phase 4
24
Adenosine Approved, Investigational Phase 3 58-61-7 60961
25
Latanoprost Approved, Investigational Phase 3 130209-82-4 5282380 5311221
26 Vasodilator Agents Phase 3
27 Analgesics Phase 3
28 Ophthalmic Solutions Phase 3
29 Pharmaceutical Solutions Phase 3
30
Maleic acid Experimental Phase 1, Phase 2 110-16-7 444266
31 Natriuretic Peptide, C-Type Phase 1
32
Dorzolamide Approved 120279-96-1 3154 5284549
33
Lidocaine Approved, Vet_approved 137-58-6 3676
34
Caffeine Approved 58-08-2 2519
35
Coenzyme Q10 Approved, Investigational, Nutraceutical 303-98-0 5281915
36 Carbonic Anhydrase Inhibitors
37 Anesthetics
38 Mitomycins
39 Central Nervous System Stimulants
40 Phosphodiesterase Inhibitors
41 Trace Elements
42 Nutrients
43 Antioxidants
44 Ubiquinone
45 Micronutrients

Interventional clinical trials:

(show top 50) (show all 65)
# 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 An 8 Week Comparison of Xalatan (Latanoprost) to Apo-latanoprost and Co-latanoprost in the Treatment of Open Angle Glaucoma Unknown status NCT02792803 Phase 4 Xalatan;Apo-Latanoprost;Co-Latanoprost
3 A Study of LUMIGAN® RC in the Clinical Setting Completed NCT01833741 Phase 4 Bimatoprost 0.01%
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 Completed NCT02796560 Phase 4 Brand name travoprost;Generic travoprost
5 A Prospective Evaluation of Open-angle Glaucoma Subjects on One Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252862 Phase 4
6 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252888 Phase 4
7 Evaluation Of Intraocular Pressure Lowering-Effect Of Xalacom (Fixed Combination Of Latanoprost And Timolol) In Patients With Poag Or Oh. A 6-Month, Open, Multi-Center Trial In Italy Completed NCT00143208 Phase 4 Xalacom
8 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%
9 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%
10 Randomized, Controlled Treatment With an Intracanalicular Dexamethasone (0.4mg) Insert Following Cataract Surgery With IOL Combined With MIGS, Specifically iStent, iStent Inject or KDB in Patients With POAG or Ocular Hypertension (OHTN) Recruiting NCT04465864 Phase 4 Intracanalicular Dexamethasone, 0.4 mg insert
11 A 8-Week, Randomized, Double-Masked, Parallel Group, Phase III Study Comparing The Efficacy And Safety Of Xalacom And Xalatan In Patients With Primary Open Angle Glaucoma (POAG) Or Ocular Hypertension (OH). Completed NCT00383019 Phase 3 Xalacom (KP2035);Xalatan
12 Determination Of Predictive Factors Allowing To An Additional 10% Reduction Of Intra-Ocular Pressure After A 12-Week Treatment With Latanoprost 0.005% / Timolol 0.5% Fixed Combination (Xalacom) In Previously Treated Patients With Open Angle Glaucoma Or Ocular Hypertension Completed NCT00230763 Phase 3 LATANOPROST 0.005% / TIMOLOL 0.5% FIXED COMBINATION
13 Phase III Multi-center, Randomized, Double-masked, Active- and Placebo-controlled Study of Trabodenoson in Adults With Ocular Hypertension or Primary Open-angle Glaucoma Completed NCT02565173 Phase 3 trabodenoson 4.5% BID;trabodenoson 6.0% QD;trabodenoson 3.0% QD;timolol 0.5% BID;placebo BID
14 A Single-masked, Randomized, Multi-center, Parallel-group, 4-week Study Evaluating the Efficacy and Safety of Once Daily Netarsudil Ophthalmic Solution 0.02% Compared to Twice Daily Ripasudil Hydrochloride Hydrate Ophthalmic Solution 0.4% in Japanese Subjects With Primary Open Angle Glaucoma (POAG) or Ocular Hypertension (OHT) Recruiting NCT04620135 Phase 3 Netarsudil ophthalmic solution 0.02%;Ripasudil hydrochloride hydrate ophthalmic solution 0.4%
15 A Multicentric, Prospective, Crossover, Double Blind Clinical Study to Evaluate the Non-inferiority of PRO-067 an Ophthlamic Solution Manufactured by Laboratorios Sophia S.A.de C.V., Previous Treatment With GAAP Ofteno ®, in Subjects With Primary Open-angle Glaucoma (POAG) or Ocular Hypertension (OHT): COMPLIANCE Study Terminated NCT02801617 Phase 3 PRO-067;GAAP Ofteno®
16 A Multi Center, Randomized, Double-blind, Parallel Design, Exploratory Trial to Evaluate the Efficacy and Safety of D565H Twice Daily Versus D565 Once Daily in Primary Open Angle Glaucoma or Ocular Hypertension Patients. Unknown status NCT03067415 Phase 2 D565H(Latanoprost 25㎍/㎖);D565(Latanoprost 50㎍/㎖)
17 A Phase 1/2a Randomized, Investigator-masked, Placebo- and Active-controlled, Dose-ranging Study of the Safety and Efficacy of ATS907 in Subjects With Primary Open Angle Glaucoma (POAG) and Ocular Hypertension Unknown status NCT01520116 Phase 1, Phase 2 Stage 1 - ATS907 - Dose 1;Stage 1 - ATS907 - Dose 2;Stage 1 - ATS907 - Dose 3;Stage 1 - ATS907 - Dose 4;Stage 1 - Vehicle;Stage 2 - ATS907 - Dose A - to be selected based on Stage 1;Stage 2 - ATS907 - Dose B - to be selected based on Stage 1;Timoptic
18 Phase II, Randomized, Double-masked, Active-controlled Study of Fixed-Dose Combinations of Trabodenoson and Latanoprost in Subjects With Ocular Hypertension or Primary Open-Angle Glaucoma Completed NCT02829996 Phase 2 trabodenoson 6.0% / latanoprost 0.005% QD;trabodenoson 3.0% / latanoprost 0.005% QD;trabodenoson 6.0% / latanoprost 0.0025% QD;latanoprost 0.005% QD;latanoprost 0.0025% QD
19 A Phase II Multi-center, Randomized Study to Evaluate the Monocular Addition of Trabodenoson (INO-8875) Ophthalmic Formulation to Latanoprost Ophthalmic Solution Therapy in Adults With Ocular Hypertension or Primary Open-Angle Glaucoma Completed NCT01917383 Phase 2 Trabodenoson;Latanoprost;Timolol
20 A Prospective, Multi-Center Evaluation of the Hydrus Aqueous Implant (Standard and Low-Profile) for Lowering Intraocular Pressure (IOP) in Subjects With Mild to Advanced Primary Open Angle Glaucoma (POAG) With or Without a Cataract Completed NCT03065036 Phase 1, Phase 2 prestudy topical glaucoma medications
21 A Phase 1/2a, Randomized, Parallel-group, Double-masked, Vehicle-controlled, Dose-frequency Escalation Study to Evaluate the Safety, Tolerability, and Intraocular Pressure (IOP)-Lowering Efficacy of Topically Administered LX7101 in Subjects Diagnosed With Primary Open-angle Glaucoma (POAG) or Ocular Hypertension (OHT) Completed NCT01528111 Phase 1, Phase 2 LX7101 (0.125%);LX7101 (0.25%);LX7101 Vehicle
22 A Phase 1/2a Randomized, Double-masked, Placebo Controlled, Dose-ranging Study of the Safety and Efficacy of H-1337 in Subjects With Primary Open Angle Glaucoma (POAG) or Ocular Hypertension Completed NCT03452033 Phase 1, Phase 2 H-1337 Placebo;H-1337 [1];H-1337 [2];H-1337 [3]
23 A Phase 1/2a Assessment of WB007 Ophthalmic Solution in Subjects With Primary Open-Angle Glaucoma or Ocular Hypertension Recruiting NCT04149899 Phase 1, Phase 2 Study Treatment 1 WB007;Study Treatment 2 WB007;Study Treatment 3 WB007;Timolol 0.5%
24 A Prospective, Randomized, Controlled Clinical Feasibility Investigation of the Safety and Efficacy of Deep Wave Trabeculoplasty (DWT) in Primary Open Angle Glaucoma (POAG) and Ocular Hypertension (OHT) Subjects Terminated NCT02226094 Phase 1, Phase 2
25 CNTF Cell Implants For Glaucoma: A Phase I Study Completed NCT01408472 Phase 1 NT-501 CNTF Implant
26 A Randomized, Double-masked, Placebo-controlled Phase 1 Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Single Daily and Multiple Daily Ascending Doses of SHP639 Topical Ophthalmic Solution in Subjects With Ocular Hypertension or Primary Open-angle Glaucoma (POAG) Completed NCT03131167 Phase 1 SHP639 (n=60);Placebo Comparator (n=24)
27 A Phase 1, Open-label, Dose Escalation Study to Evaluate the Safety and Tolerability of Latanoprost Sustained Release (SR) Insert in Patients With Primary Open Angle Glaucoma (POAG) or Ocular Hypertension (OHT) Terminated NCT01180062 Phase 1 Latanoprost;Arm 2;Latanoprost SR insert
28 Laser Speckle Flowgraphy in Patients With Normal Tension Glaucoma - a Pilot Study Unknown status NCT03318510
29 Efficacy of Tafluprost as an Adjunct to Medical Therapy for Residual Primary Open Angle Glaucoma and Residual Primary Angle-closure Glaucoma After Trabeculectomy Unknown status NCT03595865 tafluprostin
30 A Prospective, Randomized, Controlled Evaluation of Open-Angle Glaucoma Subjects on Two Topical Hypotensive Medications, Implanted With One, Two, or Three Trabecular Micro-Bypass Stents Unknown status NCT01252849
31 A Prospective, Randomized, Controlled Evaluation of Open-Angle Glaucoma Subjects on Two Topical Hypotensive Medications, Implanted With One, Two, or Three Trabecular Micro-Bypass Stents Unknown status NCT01517477
32 Pilot Study to Compare the Humphrey Field Analyzer (HFA) 30-2 Swedish Interactive Threshold Algorithm (SITA) Standard Perimetry With the New Scotoma-Oriented Perimetry (SCOPE), Using a New Fast GATE (German Adaptive Threshold Estimation) in Glaucoma Patients Under Topic Therapy Unknown status NCT00902109
33 Trabeculectomy With MMC and I Stent in Uveitic Glaucoma and POAG : Outcomes and Prognostic Factors Unknown status NCT03293251
34 A Study of Patients With Primary Open Angle Glaucoma or Ocular Hypertension Switched to Lumigan® UD Monotherapy for Medical Reasons Completed NCT01853085 Bimatoprost Ophthalmic Solution
35 A Study of GANFORT® UD in Patients With Primary Open Angle Glaucoma (POAG) or Ocular Hypertension (OHT) in a Medical Setting Completed NCT01999348 Fixed Combination Bimatoprost and Timolol
36 A Study of Bimatoprost 0.01% in the Clinical Setting Completed NCT01814761 Bimatoprost 0.01%
37 A Multi-Center, Randomized, Double-Masked, 8-week Pilot Study Evaluating the Safety and Efficacy of the TUG (Therapeutic Ultrasound for Glaucoma) Compared to Sham in Subjects With Primary Open Angle Glaucoma or Ocular Hypertension Completed NCT02858284
38 Prospective, Single Center Switching Study of 0.0015% Tafluprost Ophthalmic Solution in Primary Open-angle Glaucoma and Ocular Hypertension Patients With Corneal Disorders Completed NCT04737928 Latanoprost;tafluprost
39 Comparison of Efficacy and Tolerability Between 2fixed Combinations for Treating Mexican Patients With Primary Open-Angle Glaucoma or Ocular Hypertension: Ganforti vs Krytantek.A Phase IV,Examiner-masked Cross-over Multicenter Clinical Trial Completed NCT01737853 Ganforti;Krytantek
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 Central Corneal Thickness in Patients With Exfoliation Syndrome, Exfoliative Glaucoma, Exfoliative Glaucoma, Primary Open-angle Glaucoma and Ocular Hypertension Completed NCT01023997
42 A Study of Patients With Primary Open Angle Glaucoma or Ocular Hypertension Who Were Insufficiently Responsive to Monotherapy Completed NCT01637246 Any Fixed Combination Therapy
43 An Observational Study of Patients With Primary Open Angle Glaucoma (POAG) or Ocular Hypertension (OHT) Who Switched IOP-lowering Treatments Completed NCT01735214 Prostaglandin Analogue -Containing IOP-Lowering Therapy
44 A Study of Lumigan® in Patients With Primary Open Angle Glaucoma (POAG) or Ocular Hypertension (OHT) Completed NCT01632423 bimatoprost 0.01%
45 A Study of Intraocular Pressure (IOP) Reduction in Newly Diagnosed Patients With Primary Open Angle Glaucoma (POAG) or Ocular Hypertension (OHT) Completed NCT01628614
46 GANfort® in Patients With Primary Open Angle Glaucoma or Ocular Hypertension Who Are Insufficiently Responsive to Monotherapy Completed NCT01628601 Fixed combination 0.3 mg bimatoprost and 5 mg timolol
47 Lumigan® in Patients With Primary Open Angle Glaucoma (POAG) or Ocular Hypertension (OHT) Completed NCT01628588 bimatoprost 0.01%
48 Study of CyPass Implantation In Patients With Open Angle Glaucoma Refractory to Single or Multi-agent Topical Therapy Completed NCT01166659
49 A Prospective, Randomized, Comparative, MultiCenter Clinical Study to Assess the Safety and Effectiveness of the Transcend CyPass Glaucoma Implant in Patients With Open Angle Glaucoma Undergoing Cataract Surgery Completed NCT01085357
50 A Prospective, Open-label, Multicenter Clinical Investigation to Assess the Safety and Performance of the ARGOS-IO System in Patients With Primary Open Angle Glaucoma (POAG) Completed NCT02434692

Search NIH Clinical Center for Glaucoma 1, Open Angle, F

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Genetic Tests for Glaucoma 1, Open Angle, F

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Genetic tests related to Glaucoma 1, Open Angle, F:

# Genetic test Affiliating Genes
1 Glaucoma 1, Open Angle, F 29 ASB10
Sources

Anatomical Context for Glaucoma 1, Open Angle, F

About this section

MalaCards organs/tissues related to Glaucoma 1, Open Angle, F:

40
Eye
Sources

Publications for Glaucoma 1, Open Angle, F

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Articles related to Glaucoma 1, Open Angle, F:

(show all 11)
# Title Authors PMID Year
1
Variants in ASB10 are associated with open-angle glaucoma. 61 6 57
22156576 2012
2
GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36. 61 57 6
10037570 1999
3
Analysis of microsatellite polymorphisms within the GLC1F locus in Japanese patients with normal tension glaucoma. 61
20309402 2010
4
A new locus (GLC1H) for adult-onset primary open-angle glaucoma maps to the 2p15-p16 region. 61
17210857 2007
5
Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter. 61
15823925 2005
6
Glaucoma in Costa Rica. Initial approaches. 61
17361544 2004
7
Exclusion of 14 candidate loci for primary open angle glaucoma in Finnish families. 61
15073581 2004
8
[Genetic ground of primary open angle glaucoma]. 61
15646497 2004
9
Genetic, ophthalmic, morphometric and histopathological analysis of the Retinopathy Globe Enlarged (rge) chicken. 61
12847422 2003
10
Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree. 61
11436127 2001
11
[Dysgenetic changes of the angle of the anterior chamber in patients with glaucoma or suspected glaucoma acquired before age 40]. 61
10919117 2000
Sources

Variations for Glaucoma 1, Open Angle, F

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ClinVar genetic disease variations for Glaucoma 1, Open Angle, F:

6 (show top 50) (show all 51)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ASB10 NM_001142459.2(ASB10):c.810C>T (p.Thr270=) SNV Pathogenic 50951 rs104886478 GRCh37: 7:150878320-150878320
GRCh38: 7:151181233-151181233
2 ASB10 NM_001142459.2(ASB10):c.564C>A (p.Cys188Ter) SNV Pathogenic 50952 rs151344606 GRCh37: 7:150883499-150883499
GRCh38: 7:151186412-151186412
3 ASB10 NM_001142459.2(ASB10):c.619G>C (p.Val207Leu) SNV Pathogenic 50953 rs104886474 GRCh37: 7:150878511-150878511
GRCh38: 7:151181424-151181424
4 ASB10 NM_001142459.2(ASB10):c.215G>A (p.Arg72His) SNV Pathogenic 50954 rs104886488 GRCh37: 7:150884003-150884003
GRCh38: 7:151186916-151186916
5 ASB10 NM_001142459.2(ASB10):c.224C>A (p.Ala75Glu) SNV not provided 99944 rs104886489 GRCh37: 7:150883994-150883994
GRCh38: 7:151186907-151186907
6 ASB10 NM_001142459.2(ASB10):c.271G>T (p.Asp91Tyr) SNV not provided 99945 rs104886490 GRCh37: 7:150883947-150883947
GRCh38: 7:151186860-151186860
7 ASB10 NM_001142459.2(ASB10):c.1046T>C (p.Val349Ala) SNV not provided 99946 rs104886483 GRCh37: 7:150878084-150878084
GRCh38: 7:151180997-151180997
8 ASB10 NM_001142459.2(ASB10):c.1078C>T (p.Arg360Cys) SNV not provided 99947 rs104886484 GRCh37: 7:150878052-150878052
GRCh38: 7:151180965-151180965
9 ASB10 NM_001142459.2(ASB10):c.1096C>T (p.Leu366Phe) SNV not provided 99948 rs104886485 GRCh37: 7:150878034-150878034
GRCh38: 7:151180947-151180947
10 ASB10 NM_080871.4(ASB10):c.115C>T (p.Arg39Trp) SNV not provided 99949 rs104886466 GRCh37: 7:150884695-150884695
GRCh38: 7:151187608-151187608
11 ASB10 NM_080871.4(ASB10):c.116G>A (p.Arg39Gln) SNV not provided 99950 rs104886467 GRCh37: 7:150884694-150884694
GRCh38: 7:151187607-151187607
12 ASB10 NM_001142459.2(ASB10):c.1272G>A (p.Ser424=) SNV not provided 99951 rs104886486 GRCh37: 7:150873331-150873331
GRCh38: 7:151176244-151176244
13 ASB10 NM_001142459.2(ASB10):c.1318A>G (p.Ser440Gly) SNV not provided 99952 rs104886487 GRCh37: 7:150873285-150873285
GRCh38: 7:151176198-151176198
14 ASB10 NM_080871.4(ASB10):c.176T>C (p.Leu59Pro) SNV not provided 99953 rs104886468 GRCh37: 7:150884634-150884634
GRCh38: 7:151187547-151187547
15 ASB10 NM_080871.4(ASB10):c.204G>T (p.Pro68=) SNV not provided 99954 rs104886469 GRCh37: 7:150884606-150884606
GRCh38: 7:151187519-151187519
16 ASB10 NM_001142459.2(ASB10):c.470C>T (p.Ala157Val) SNV not provided 99955 rs77615410 GRCh37: 7:150883593-150883593
GRCh38: 7:151186506-151186506
17 ASB10 NM_001142459.2(ASB10):c.487T>A (p.Cys163Ser) SNV not provided 99956 rs104886470 GRCh37: 7:150883576-150883576
GRCh38: 7:151186489-151186489
18 ASB10 NM_001142459.2(ASB10):c.516C>T (p.Ala172=) SNV not provided 99957 rs104886471 GRCh37: 7:150883547-150883547
GRCh38: 7:151186460-151186460
19 ASB10 NM_001142459.2(ASB10):c.524A>C (p.Asn175Thr) SNV not provided 99958 rs104886472 GRCh37: 7:150883539-150883539
GRCh38: 7:151186452-151186452
20 ASB10 NM_001142459.2(ASB10):c.565C>T (p.Arg189Trp) SNV not provided 99959 rs104886473 GRCh37: 7:150883498-150883498
GRCh38: 7:151186411-151186411
21 ASB10 NM_080871.4(ASB10):c.55C>T (p.Pro19Ser) SNV not provided 99960 rs104886462 GRCh37: 7:150884755-150884755
GRCh38: 7:151187668-151187668
22 ASB10 NM_080871.4(ASB10):c.56C>G (p.Pro19Arg) SNV not provided 99961 rs104886463 GRCh37: 7:150884754-150884754
GRCh38: 7:151187667-151187667
23 ASB10 NM_080871.4(ASB10):c.60C>T (p.Ser20=) SNV not provided 99962 rs104886464 GRCh37: 7:150884750-150884750
GRCh38: 7:151187663-151187663
24 ASB10 NM_001142459.2(ASB10):c.731G>A (p.Arg244His) SNV not provided 99963 rs104886476 GRCh37: 7:150878399-150878399
GRCh38: 7:151181312-151181312
25 ASB10 NM_001142459.2(ASB10):c.737C>A (p.Ala246Asp) SNV not provided 99964 rs104886477 GRCh37: 7:150878393-150878393
GRCh38: 7:151181306-151181306
26 ASB10 NM_001142459.2(ASB10):c.908G>A (p.Arg303His) SNV not provided 99965 rs104886479 GRCh37: 7:150878222-150878222
GRCh38: 7:151181135-151181135
27 ASB10 NM_001142459.2(ASB10):c.910C>T (p.Arg304Cys) SNV not provided 99966 rs61735130 GRCh37: 7:150878220-150878220
GRCh38: 7:151181133-151181133
28 ASB10 NM_001142459.2(ASB10):c.986C>T (p.Thr329Met) SNV not provided 99967 rs104886481 GRCh37: 7:150878144-150878144
GRCh38: 7:151181057-151181057
29 ASB10 NM_080871.4(ASB10):c.94C>A (p.Arg32Ser) SNV not provided 99968 rs104886465 GRCh37: 7:150884716-150884716
GRCh38: 7:151187629-151187629
30 ASB10 NM_001142459.2(ASB10):c.996C>G (p.His332Gln) SNV not provided 99969 rs104886482 GRCh37: 7:150878134-150878134
GRCh38: 7:151181047-151181047
31 ASB10 NM_001142459.2(ASB10):c.105T>G (p.Ser35=) SNV not provided 99970 rs151344620 GRCh37: 7:150884113-150884113
GRCh38: 7:151187026-151187026
32 ASB10 NM_001142459.2(ASB10):c.143C>G (p.Thr48Ser) SNV not provided 99971 rs151344615 GRCh37: 7:150884075-150884075
GRCh38: 7:151186988-151186988
33 ASB10 NM_001142459.2(ASB10):c.199G>A (p.Val67Met) SNV not provided 99972 rs151344616 GRCh37: 7:150884019-150884019
GRCh38: 7:151186932-151186932
34 ASB10 NM_001142459.2(ASB10):c.204C>G (p.Gly68=) SNV not provided 99973 rs151344621 GRCh37: 7:150884014-150884014
GRCh38: 7:151186927-151186927
35 ASB10 NM_001142459.2(ASB10):c.225G>A (p.Ala75=) SNV not provided 99974 rs151344622 GRCh37: 7:150883993-150883993
GRCh38: 7:151186906-151186906
36 ASB10 NM_001142459.2(ASB10):c.263A>T (p.Asp88Val) SNV not provided 99975 rs151344617 GRCh37: 7:150883955-150883955
GRCh38: 7:151186868-151186868
37 ASB10 NM_001142459.2(ASB10):c.281G>A (p.Arg94Gln) SNV not provided 99976 rs147737381 GRCh37: 7:150883937-150883937
GRCh38: 7:151186850-151186850
38 ASB10 NM_001142459.2(ASB10):c.291T>A (p.Asp97Glu) SNV not provided 99977 rs151344619 GRCh37: 7:150883927-150883927
GRCh38: 7:151186840-151186840
39 ASB10 NM_001142459.2(ASB10):c.1066C>T (p.His356Tyr) SNV not provided 99978 rs151344611 GRCh37: 7:150878064-150878064
GRCh38: 7:151180977-151180977
40 ASB10 NM_001142459.2(ASB10):c.1079G>A (p.Arg360His) SNV not provided 99979 rs151344612 GRCh37: 7:150878051-150878051
GRCh38: 7:151180964-151180964
41 ASB10 NM_001142459.2(ASB10):c.1092G>T (p.Gly364=) SNV not provided 99980 rs151344614 GRCh37: 7:150878038-150878038
GRCh38: 7:151180951-151180951
42 ASB10 NM_080871.4(ASB10):c.204G>A (p.Pro68=) SNV not provided 99981 rs104886469 GRCh37: 7:150884606-150884606
GRCh38: 7:151187519-151187519
43 ASB10 NM_001142459.2(ASB10):c.515C>T (p.Ala172Val) SNV not provided 99982 rs151344604 GRCh37: 7:150883548-150883548
GRCh38: 7:151186461-151186461
44 ASB10 NM_001142459.2(ASB10):c.547C>T (p.Arg183Cys) SNV not provided 99983 rs151344605 GRCh37: 7:150883516-150883516
GRCh38: 7:151186429-151186429
45 ASB10 NM_001142459.2(ASB10):c.590C>T (p.Ala197Val) SNV not provided 99984 rs151344607 GRCh37: 7:150878540-150878540
GRCh38: 7:151181453-151181453
46 ASB10 NM_001142459.2(ASB10):c.628C>A (p.Arg210=) SNV not provided 99985 rs151344613 GRCh37: 7:150878502-150878502
GRCh38: 7:151181415-151181415
47 ASB10 NM_001142459.2(ASB10):c.714G>A (p.Gly238=) SNV not provided 99986 rs104886475 GRCh37: 7:150878416-150878416
GRCh38: 7:151181329-151181329
48 ASB10 NM_001142459.2(ASB10):c.815G>A (p.Arg272His) SNV not provided 99987 rs140602973 GRCh37: 7:150878315-150878315
GRCh38: 7:151181228-151181228
49 ASB10 NM_001142459.2(ASB10):c.884A>T (p.Gln295Leu) SNV not provided 99988 rs151344609 GRCh37: 7:150878246-150878246
GRCh38: 7:151181159-151181159
50 ASB10 NM_001142459.2(ASB10):c.958G>A (p.Ala320Thr) SNV not provided 99989 rs151344610 GRCh37: 7:150878172-150878172
GRCh38: 7:151181085-151181085
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Expression for Glaucoma 1, Open Angle, F

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Search GEO for disease gene expression data for Glaucoma 1, Open Angle, F.
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Pathways for Glaucoma 1, Open Angle, F

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GO Terms for Glaucoma 1, Open Angle, F

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Sources for Glaucoma 1, Open Angle, F

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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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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