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MCID: EYD002
MIFTS: 59

Eye Disease

Categories: Eye diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Eye Disease

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MalaCards integrated aliases for Eye Disease:

Name: Eye Disease 12 15 17
Eye Diseases 54 42 43 15
Abnormality of the Eye 29 6

Classifications:

MalaCards categories:
Anatomical: Eye diseases
See all MalaCards categories (disease lists)
ICD10: 32


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Disease Ontology 12 DOID:5614
ICD9CM 34 360 360.9 379.90
MeSH 43 D005128
NCIt 49 C26767
SNOMED-CT 67 79517001
ICD10 32 H44 H44.9
UMLS 71 C0015397
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Summaries for Eye Disease

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MedlinePlus : 42 Some eye problems are minor and don't last long. But some can lead to a permanent loss of vision. Common eye problems include Refractive errors Cataracts - clouded lenses Optic nerve disorders, including glaucoma Retinal disorders - problems with the nerve layer at the back of the eye Macular degeneration - a disease that destroys sharp, central vision Diabetic eye problems Conjunctivitis - an infection also known as pinkeye Your best defense is to have regular checkups, because eye diseases do not always have symptoms. Early detection and treatment could prevent vision loss. See an eye care professional right away if you have a sudden change in vision, if everything looks dim, or if you see flashes of light. Other symptoms that need quick attention are pain, double vision, fluid coming from the eye, and inflammation. NIH: National Eye Institute

MalaCards based summary : Eye Disease, also known as eye diseases, is related to macular degeneration, age-related, 1 and retinal disease. An important gene associated with Eye Disease is CNGB3 (Cyclic Nucleotide Gated Channel Subunit Beta 3), and among its related pathways/superpathways are cAMP signaling pathway and Creation of C4 and C2 activators. The drugs Propylthiouracil and Fluorouracil have been mentioned in the context of this disorder. Affiliated tissues include eye, thyroid and testes, and related phenotypes are nervous system and cardiovascular system

Disease Ontology : 12 An eye and adnexa disease that is located in the eye.

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Related Diseases for Eye Disease

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Diseases related to Eye Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 754)
# Related Disease Score Top Affiliating Genes
1 macular degeneration, age-related, 1 34.4 SERPINF1 RDH12 PAX6 IMPG2 HTRA1 CNGB3
2 retinal disease 34.0 RDH12 PAX6 IMPG2 CNGB3 CNGA3 CFH
3 retinitis pigmentosa 33.8 SERPINF1 RDH12 PAX6 NPHP1 IMPG2 CNGB3
4 myopia 33.3 VPS13B SERPINF1 PAX6 CNGB3 CACNA1F
5 retinal degeneration 33.2 SERPINF1 RDH12 OAT NPHP1 ABCA4
6 retinoschisis 1, x-linked, juvenile 33.1 CNGB3 CNGA3 CACNA1F ABCA4
7 senior-loken syndrome 1 32.7 RDH12 NPHP1 ABCA4
8 macular degeneration, age-related, 6 32.5 CFH CFB ABCA4
9 macular degeneration, age-related, 4 32.5 CFH CFB ABCA4
10 macular degeneration, age-related, 14 32.4 CFB C2
11 cogan syndrome 32.3 NPHP1 CACNA1F
12 leber congenital amaurosis 31.9 SERPINF1 RDH12 PAX6 NPHP1 IMPG2 CNGB3
13 pathologic nystagmus 31.7 RDH12 PAX6 CNGB3 CNGA3 CACNA1F
14 kuhnt-junius degeneration 31.7 SERPINF1 HTRA1 CFH CFB ARMS2
15 yemenite deaf-blind hypopigmentation syndrome 31.6 CFH ABCA4
16 congenital stationary night blindness 31.6 RDH12 CNGB3 CNGA3 CACNA1F ABCA4
17 stargardt disease 31.3 RDH12 CNGB3 CNGA3 CFH ARMS2 ABCA4
18 color blindness 31.3 CNGB3 CNGA3 ABCA4
19 achromatopsia 31.1 RDH12 CNGB3 CNGA3 CACNA1F ABCA4
20 cone-rod dystrophy 2 31.0 NPHP1 CNGB3 CNGA3 CACNA1F ABCA4
21 angioid streaks 31.0 CFH ARMS2 ABCC6
22 hemolytic-uremic syndrome 30.9 CFH CFB C3 C2
23 membranoproliferative glomerulonephritis 30.9 LCAT CFH CFB C3
24 scotoma 30.9 CNGB3 CNGA3 ABCA4
25 hemolytic anemia 30.8 LCAT CFH CFB C3
26 pseudoxanthoma elasticum 30.7 CFH ABCC6 ABCA4
27 solar retinopathy 30.7 RDH12 IMPG2 ABCA4
28 fundus albipunctatus 30.7 RDH12 CACNA1F ABCA4
29 achromatopsia 3 30.7 CNGB3 CNGA3 CACNA1F
30 central serous chorioretinopathy 30.7 CFH ARMS2
31 cone dystrophy 30.6 CNGB3 CNGA3 ABCA4
32 cone-rod dystrophy 3 30.3 CACNA1F ABCA4
33 fish-eye disease 12.6
34 aland island eye disease 12.6
35 bornholm eye disease 12.5
36 non-rare eye disease 12.1
37 obsolete: rare inflammatory eye disease 12.1
38 obsolete: rare eye disease due to a differentiation anomaly 12.1
39 rare genetic eye disease 12.1
40 obsolete: rare acquired eye disease 12.1
41 fundus dystrophy 11.4 VPS13B RDH12 PAX6 NPHP1 IMPG2 CNGB3
42 degeneration of macula and posterior pole 11.4 SERPINF1 HTRA1 CFH CFB C3 C2
43 microvascular complications of diabetes 5 11.3
44 intraocular pressure quantitative trait locus 11.3
45 retinal drusen 11.2 CFH CFB C3 C2 ARMS2 ABCA4
46 exophthalmos 11.2
47 optic nerve disease 11.2
48 lecithin:cholesterol acyltransferase deficiency 11.2
49 usher syndrome 11.2
50 superior limbic keratoconjunctivitis 11.2

Graphical network of the top 20 diseases related to Eye Disease:



Diseases related to Eye Disease
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Symptoms & Phenotypes for Eye Disease

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MGI Mouse Phenotypes related to Eye Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.03 ABCA4 C3 CACNA1F CFH CNGA3 CNGB3
2 cardiovascular system MP:0005385 10.02 ABCA4 ABCC6 C3 CFB CFH CNGA3
3 renal/urinary system MP:0005367 9.56 ABCC6 C3 CFB CFH LCAT NPHP1
4 pigmentation MP:0001186 9.55 ABCA4 CFH OAT PAX6 SERPINF1
5 vision/eye MP:0005391 9.5 ABCA4 ABCC6 C3 CACNA1F CFH CNGA3
Sources

Drugs & Therapeutics for Eye Disease

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Drugs for Eye Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 411)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propylthiouracil Approved, Investigational Phase 4 51-52-5 657298
2
Fluorouracil Approved Phase 4 51-21-8 3385
3
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
4
Azithromycin Approved Phase 4 83905-01-5 447043 55185
5
Mineral oil Approved, Vet_approved Phase 4 8042-47-5
6
Ethanol Approved Phase 4 64-17-5 702
7
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
8
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
9
Dinoprost tromethamine Approved, Vet_approved Phase 4 38562-01-5 5282415
10
Dinoprost Approved, Investigational Phase 4 551-11-1 5283078
11
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
12
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
13
Povidone Approved Phase 4 9003-39-8
14
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
15
Dorzolamide Approved Phase 4 120279-96-1 5284549 3154
16
Glycerol Approved, Investigational Phase 4 56-81-5 753
17
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
18
Methimazole Approved Phase 4 60-56-0 1349907
19
Dipivefrin Approved Phase 4 52365-63-6 3105
20
Sulfacetamide Approved Phase 4 144-80-9 5320
21
Menthol Approved Phase 4 2216-51-5 16666
22
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
23
Propranolol Approved, Investigational Phase 4 525-66-6 4946
24
Sorbitol Approved Phase 4 50-70-4 5780
25
Isotretinoin Approved Phase 4 4759-48-2 5282379 5538
26
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
27
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
28
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
29
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
30
Spiramycin Approved Phase 4 24916-50-5
31
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
32
Sulfadiazine Approved, Investigational, Vet_approved Phase 4 68-35-9 5215
33
Levoleucovorin Approved, Investigational Phase 4 68538-85-2
34
Verteporfin Approved, Investigational Phase 4 129497-78-5
35
Eplerenone Approved Phase 4 107724-20-9 150310 443872
36
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
37
Fluorometholone Approved, Investigational Phase 4 426-13-1 9878
38
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
39
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
40 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
41
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
42
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
43
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
44
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
45
Castor oil Approved, Investigational, Nutraceutical, Vet_approved Phase 4 8001-79-4
46
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
47
Rhein Experimental Phase 4 478-43-3 10168
48
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
49 Calciferol Phase 4
50 Antineoplastic Agents, Immunological Phase 4

Interventional clinical trials:

(show top 50) (show all 838)
# Name Status NCT ID Phase Drugs
1 A Phase IV, Prospective, Open-label, Multicentre, Single Arm, 3-month Proof of Concept Study to Assess the Effect of IKERVIS® Eye Drops Administered Once Daily on the Quality of Vision in Dry Eye Disease (DED) Patients With Severe Keratitis Unknown status NCT03237936 Phase 4 1mg/mL ciclosporin
2 Combined Radiotherapy and Intravenous Steroids for Early Progressive Thyroid Eye Disease Unknown status NCT02339142 Phase 4 intravenous corticosteroids (methylprednisolone)
3 A Randomized Trial of Intravenous Pulse Versus Sequential Steroid Therapy for Patients With Graves' Orbitopathy Unknown status NCT01969019 Phase 4 methylprednisolone, prednisone
4 An Open Label Comparing the Short Term Efficacy of Lacrisert Unknown status NCT03079271 Phase 4 Lacrisert, 5 Mg Ophthalmic Insert
5 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medication Treated With One Suprachoroidal Stent Unknown status NCT01252914 Phase 4
6 Eight Week Feasibility Study Enrolling Dry Eye Subjects Confirmed by Four of Seven Dianostic Markers Responding to Nutritional Therapy Unknown status NCT01561040 Phase 4
7 Effect of Intense Pulse Light (IPL) Treatment on Tear Film Osmolarity in Dry Eye Disease (DED) With Meibomian Gland Dysfunction (MGD). Unknown status NCT02992535 Phase 4
8 Use of Vascular Endothelial Growth Factor Inhibitor, Bevacizumab to Modulate the Outcomes of Trabeculectomy Surgery Unknown status NCT01229202 Phase 4 Bevacizumab
9 Topical Cyclosporine for the Treatment of Dry Eye in Patients Infected With the Human Immunodeficiency Virus Unknown status NCT00797030 Phase 4 cyclosporine and sodium carboximethycellulose;sodium carboximethycellulose
10 Assessment in Early Changes in the Parameters of Optical Coherence Tomography (OCT Spectral Domain) in Patients With Subfoveal Neovascular Membranes Related to Age After Treatment With a Single Intravitreal Injection of Lucentis. Unknown status NCT01669447 Phase 4
11 The Effect of Early Total Thyroidectomy in the Course of Graves' Orbitopathy Unknown status NCT01056419 Phase 4 Propylthiouracil
12 Echothiophate Iodide for the Prevention of Progression of Myopia Unknown status NCT02544529 Phase 4 Echothiophate Iodide 0.03% Ophthalmic Solution;Carboxymethylcellulose Sodium (0.5%)
13 Management of Recurrent Pterygium to Prevent Visual Impairment Unknown status NCT02530801 Phase 4 Bevacizumab;5 fluorouracil
14 Objective Measurements of Prolonged Effects of Restasis on Dry Eye Disease Completed NCT00567177 Phase 4 Restasis, Refresh Plus
15 Bromfenac 0.09% vs. Ketorolac 0.4% During the Induction Phase of Treatment With Topical Cyclosporine for Chronic Dry Eye Patients Completed NCT00520260 Phase 4 bromfenac;ketorolac
16 A Four Week Study of Azithromycin Ophthalmic Solution, 1% Versus Placebo in Subjects With Dry Eye Disease Completed NCT01014078 Phase 4 Azithromycin Ophthalmic Solution, 1%;Placebo
17 Safety Study of the Use of Topical Cyclosporine in the Treatment of Dry Eye Disease Completed NCT02004067 Phase 4 Restasis;Refresh Endura
18 Effect of Lifitegrast on Dry Eye Disease Signs and Symptoms Completed NCT03451396 Phase 4 Lifitegrast
19 A Prospective, Multicenter, Randomized Controlled Study of the Effect of Lotepredol Etabonate on The Initiation of Dry Eye Treatment With Topical Cyclosporine Completed NCT00407043 Phase 4 Lotemax;Restasis
20 An 8 Week, Single Masked, Parallel-Group, Exploratory Study Comparing Ocular Surface Signs and Symptoms in Monotherapy Ocular Hypertension or Glaucoma Patients Randomized to Either Xalatan® or Travatan Z® Completed NCT00799682 Phase 4 Xalatan;Travatan Z
21 Prostaglandin F2-alpha Eye Drops (Bimatoprost) in Thyroid Eye Disease: a Randomised Controlled Double Blind Crossover Trial Completed NCT02059655 Phase 4 Bimatoprost;Eye drop solution
22 Clinical Efficacy of Topical Hydrocortisone 0.335% (Softacort®) in Patients With Chronic Dry Eye Disease and Associated Ocular Surface Inflammation Completed NCT03907865 Phase 4 Softacort
23 The Utility of in Vivo Confocal Microscopy (IVCM) to Assess Cellular Response and Efficacy of Long-term Topical Steroid Treatment in Patients With Dry Eye Disease (DED) Completed NCT02120079 Phase 4 Lotemax;Soothe Tired Eyes Lubricant Eye Drop (Artificial Tears)
24 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
25 Change in Optic Nerve Head Blood Flow,Optic Nerve Topography and Diurnal Fluctuation of Intraocular Pressure and Pulsatile Ocular Blood Flow in Glaucoma:Cosopt and Xalatan vs Xalatan Alone Completed NCT00957190 Phase 4 Dorzolamide 20 mg and Timolol 5 mg
26 A Comparison of Optive in Patients Previously Using Systane for the Treatment of Dry Eye Completed NCT00399230 Phase 4 Optive
27 Multi-Center Study Comparing Efficacy and Tolerability of TRAVATAN® BAK-free (0.004% Travoprost) in Patients Previously on Latanoprost Ophthalmic Solution 0.005% Monotherapy Completed NCT01510145 Phase 4 Travoprost 0.004% BAK-free
28 A Double-masked, Methylprednisolone-control, Efficacy and Safety Study of 99Tc-MDP for Thyroid Associated Ophthalmopathy. Completed NCT03948191 Phase 4 Methylprednisolone;99Tc-MDP(99Technetium-Methylenediphosphonate Injection)
29 A Prospective, Unmasked Evaluation of the iStent in Patients With Primary Open-Angle Glaucoma Completed NCT00911924 Phase 4
30 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252888 Phase 4
31 A Prospective Evaluation of Open-angle Glaucoma Subjects on One Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252862 Phase 4
32 Investigation of Maintaining Visual Performance Achieved With Cyclosporine Therapy Completed NCT02121847 Phase 4 cyclosporine 0.05% ophthalmic emulsion;carboxymethylcellulose-based lubricant eye drops
33 Evaluation of Maintaining Visual Performance Of Subjects Who Engage in Electronic Visual Tasking While Using Restasis (EMPOWER) Completed NCT02554981 Phase 4 Cyclosporine 0.05% Ophthalmic Emulsion
34 Effect of High-Dose Prednisolone (Solu Dacortin®) Treatment on Choroidal and Optic Nerve Head Blood Flow in Humans Completed NCT00312325 Phase 4 Prednisolone
35 Safety and Efficacy of Lifitegrast 5% Ophthalmic Solution in Contact Lens Discomfort Completed NCT03686878 Phase 4 Lifitegrast
36 An Open-label, Prospective, Multicentre, Uncontrolled, Proof of Concept Study Assessing the Efficacy of Lucentis (Ranibizumab) Administered by an Individualized "Treat and Extend" Dosing Regimen in Patients With Visual Impairment Due to Diabetic Macular Edema Completed NCT01297569 Phase 4 Ranibizumab
37 Evaluation of Tear Osmolarity Over Time With Sustained Use of Thera Tears Lubricating Completed NCT02758327 Phase 4 TheraTears Lubricating Eye Drops
38 Study to Compare the Efficacy and Safety of Two Non-Preserved Artificial Tears for the Treatment of Dry Eye Signs and Symptoms Completed NCT00938704 Phase 4 carboxymethylcellulose 0.5% +glycerin 0.9%;sodium hyaluronate 0.18%
39 An Open-label, Multi-center, 6-month Extension Study Comparing the Long-term Efficacy and Safety of Lucentis (Ranibizumab) Intravitreal Injections Versus Ozurdex (Dexamethasone) Intravitreal Implant in Patients With Visual Impairment Due to Macular Edema Following Branch Retinal Vein Occlusion (BRVO) or Central Retinal Vein Occlusion (CRVO) Who Have Completed the Respective Core Study (CRFB002EDE17 or CRFB002EDE18) Completed NCT01580020 Phase 4 Dexamethasone
40 Prospective, Randomized Clinical Trial of Meibomian Gland Probing Versus Sham Procedure for Refractory Meibomian Gland Dysfunction Completed NCT02256969 Phase 4 Blephamide;GenTeal PM Night-Time
41 An Open-Label, Single-Center Study to Evaluate Symptom Response and Tear Film Cooling Dynamics of Normal and Dry Eye Patients Secondary to Application of a Menthol-Containing Eyedrop (Rohto® Hydra) Completed NCT02985827 Phase 4 Rohto (r) Hydra;Systane (r) Ultra
42 Lipids of the Human Tear Film and Their Effect on Tear Stability Completed NCT00803452 Phase 4 doxycycline;azithromycin
43 12-Month Stability of Diurnal IOP Control on Cosopt Completed NCT00379834 Phase 4 Cosopt
44 Influence of Three Different Formulations of Lachrymal Substitutes on Tear Film Thickness and Other Signs and Symptoms in Patients With Moderate to Severe Dry Eye Syndrome Completed NCT02986750 Phase 4
45 Influence of Lachrymal Substitutes on Tear Film Thickness in Patients With Moderate Dry Eye Syndrome Completed NCT01864330 Phase 4
46 A 12 Months, Prospective, Multicenter, Open-label, Single Arm Interventional Study Assessing the Safety and Tolerability of 0.5 mg Ranibizumab in Mono/Bilateral Wet AMD Patients in Eyes With (Best-Corrected Distance Visual Acuity) BCVA Below 2/10 and/or Second Affected Eye Completed NCT01986907 Phase 4 ranibizumab
47 Influence of Lachrymal Substitute Gels on Tear Film Thickness in Patients With Moderate to Severe Dry Eye Syndrome Completed NCT02585453 Phase 4
48 Clinical Trial of Interventions for Visual Loss in Nursing Home Residents Completed NCT00348621 Phase 4
49 Steroids for Corneal Ulcers Trial Completed NCT00324168 Phase 4 Antibiotics;Topical corticosteroid;Placebo
50 Eliminating Trachoma With Repeat Mass Drug Treatment Completed NCT00322972 Phase 4 Mass treatment with oral azithromycin to an entire community

Search NIH Clinical Center for Eye Disease

Cochrane evidence based reviews: eye diseases

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Genetic Tests for Eye Disease

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Genetic tests related to Eye Disease:

# Genetic test Affiliating Genes
1 Abnormality of the Eye 29
Sources

Anatomical Context for Eye Disease

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The Foundational Model of Anatomy Ontology organs/tissues related to Eye Disease:

19
Eye

MalaCards organs/tissues related to Eye Disease:

40
Eye, Thyroid, Testes, Retina, Endothelial, T Cells, Bone
Sources

Publications for Eye Disease

About this section

Articles related to Eye Disease:

(show top 50) (show all 10718)
# Title Authors PMID Year
1
Mucocutaneous Diseases. 42
31735224 2020
2
Trial of Apremilast for Oral Ulcers in Behçet's Syndrome. 42
31722152 2019
3
Exophthalmometry values in the Hong Kong Chinese adult population from a population-based study. 42
31764812 2019
4
PEDF in angiogenic eye diseases. 61 54
20236057 2010
5
Pathogenesis of thyroid eye disease--does autoimmunity against the TSH receptor explain all cases? 54 61
20464711 2010
6
Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant. 54 61
20085643 2010
7
Implications of new monoclonal antibodies and the crystal structure of the TSH receptor for the treatment and management of thyroid diseases. 54 61
20477447 2008
8
Effects of sequential artificial tear and cyclosporine emulsion therapy on conjunctival goblet cell density and transforming growth factor-beta2 production. 54 61
18245969 2008
9
Pigment epithelium-derived factor prevents melanoma growth via angiogenesis inhibition. 61 54
19128233 2008
10
Positive correlation of pigment epithelium-derived factor and total antioxidant capacity in aqueous humour of patients with uveitis and proliferative diabetic retinopathy. 61 54
17389742 2007
11
L1 retrotransposition can occur early in human embryonic development. 61 54
17483097 2007
12
A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency. 54 61
17439325 2007
13
Pigment epithelium-derived factor (PEDF) inhibits angiotensin II-induced smooth muscle cell proliferation through its anti-oxidative properties. 54 61
17627605 2007
14
Study of serum antibodies against three eye muscle antigens and the connective tissue antigen collagen XIII in patients with Graves' disease with and without ophthalmopathy: correlation with clinical features. 61 54
17042681 2006
15
[Establishing the linkage disequilibrium pattern for the all-trans-retinol dehydrogenase (RDH8) gene]. 54 61
17081426 2006
16
High prevalence of alpha 1 antitrypsin phenotypes in viral hepatitis B infected patients in Iran. 61 54
16260177 2005
17
Pigment epithelium-derived factor (PEDF)-induced apoptosis and inhibition of vascular endothelial growth factor (VEGF) expression in MG63 human osteosarcoma cells. 54 61
15985268 2005
18
[Fish eye disease revealing a partial LCAT deficiency]. 54 61
15936482 2005
19
Alpha-1-antitrypsin phenotypes and HLA-B27 typing in uveitis patients in southeast Iran. 61 54
15820772 2005
20
PAX6 mutations: genotype-phenotype correlations. 61 54
15918896 2005
21
Mutation analysis of PAX6 gene in a large Chinese family with aniridia. 54 61
15740668 2005
22
Met72Thr polymorphism of pigment epithelium-derived factor gene and susceptibility to age-related macular degeneration. 54 61
15823717 2005
23
Concentration of transforming growth factor beta2 in aqueous humor. 54 61
15637419 2005
24
Gene symbol: LCAT. Disease: Fish eye disease. 61 54
15678588 2004
25
The effect of long-term somatostatin analogue treatment on free and total insulin-like growth factor (IGF) -I, -II and IGF binding protein -1, -2 and -3 serum levels in euthyroid patients with active thyroid eye disease. 54 61
16982592 2004
26
Decrease of pigment epithelium-derived factor in aqueous humor with increasing age. 61 54
15126162 2004
27
Overexpression of pigment epithelium-derived factor decreases angiogenesis and inhibits the growth of human malignant melanoma cells in vivo. 61 54
15039211 2004
28
Bioinformatic approaches for identification and characterization of olfactomedin related genes with a potential role in pathogenesis of ocular disorders. 61 54
15123989 2004
29
Using denaturing HPLC for SNP discovery and genotyping, and establishing the linkage disequilibrium pattern for the all-trans-retinol dehydrogenase (RDH8) gene. 61 54
14661078 2004
30
[Ocular manifestation in LCAT deficiency--a clinicopathological correlation]. 54 61
12886512 2003
31
Adipose thyrotrophin receptor expression is elevated in Graves' and thyroid eye diseases ex vivo and indicates adipogenesis in progress in vivo. 54 61
12790806 2003
32
Identification of differentially expressed genes in keratoconus epithelium analyzed on microarrays. 61 54
12766045 2003
33
Inhibitory effects of ketotifen on eotaxin-dependent activation of eosinophils: consequences for allergic eye diseases. 54 61
12752326 2003
34
Pigment epithelium-derived factor inhibits leptin-induced angiogenesis by suppressing vascular endothelial growth factor gene expression through anti-oxidative properties. 61 54
12711260 2003
35
The molecular genetics of the corneal dystrophies--current status. 61 54
12700042 2003
36
Free and total insulin-like growth factor (IGF)-I, -II, and IGF binding protein-1, -2, and -3 serum levels in patients with active thyroid eye disease. 61 54
12519841 2003
37
[Ocular Manifestation of Mucopolysaccharidosis I-S (Scheie's Syndrome)]. 61 54
12447720 2002
38
Demonstration of immunoglobulin G, A, and E autoantibodies to the human thyrotropin receptor using flow cytometry. 61 54
11932312 2002
39
Differential occurrence of mutations causative of eye diseases in the Chinese population. 54 61
11857735 2002
40
Loss of the antiangiogenic pigment epithelium-derived factor in patients with angiogenic eye disease. 61 54
11723044 2001
41
Quantification of MUC5AC protein in human tears. 61 54
11685069 2001
42
[LCAT (lecithin:cholesterol acyltransferase)]. 61 54
11797372 2001
43
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. 54 61
10711710 2000
44
Association of thyrotrophin receptor antibodies with the clinical features of Graves' ophthalmopathy. 61 54
10718823 2000
45
Development of an animal model of autoimmune thyroid eye disease. 61 54
10202044 1999
46
Serological reactivity of recombinant 1D autoantigen and its expression in human thyroid and eye muscle tissue: a possible autoantigenic link in Graves' patients. 61 54
9709953 1998
47
The thyrotropin receptor in thyroid eye disease. 54 61
9623732 1998
48
Role of eye muscle antibody measurement in diagnosis of thyroid-associated ophthalmopathy: a laboratory update. 54 61
15251739 1998
49
[Lecithin-cholesterol acyltransferase deficiency and fish eye disease]. 61 54
9645018 1998
50
Reverse cholesterol transport--a review of the process and its clinical implications. 61 54
9399019 1997
Sources

Variations for Eye Disease

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ClinVar genetic disease variations for Eye Disease:

6 (show all 29) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RDH12 NM_152443.3(RDH12):c.806_810del (p.Ala269fs)deletion Pathogenic 2047 rs386834261 14:68196055-68196059 14:67729338-67729342
2 VPS13B NM_017890.4(VPS13B):c.2591C>A (p.Ser864Ter)SNV Pathogenic 95840 rs140936527 8:100286501-100286501 8:99274273-99274273
3 CNGA3 NM_001079878.2(CNGA3):c.1634G>A (p.Arg545His)SNV Pathogenic 265467 rs552069173 2:99013321-99013321 2:98396858-98396858
4 IMPG2 NM_016247.4(IMPG2):c.1680T>A (p.Tyr560Ter)SNV Pathogenic 437938 rs758291149 3:100963495-100963495 3:101244651-101244651
5 ABCC6 NM_001171.5(ABCC6):c.4104del (p.Asp1368fs)deletion Pathogenic 433350 rs72664237 16:16248589-16248589 16:16154732-16154732
6 ABCC6 NM_001171.5(ABCC6):c.3389C>T (p.Thr1130Met)SNV Pathogenic/Likely pathogenic 6569 rs63750459 16:16256967-16256967 16:16163110-16163110
7 VPS13B NM_017890.4(VPS13B):c.6370_6371del (p.Met2124fs)deletion Pathogenic/Likely pathogenic 242548 rs748404277 8:100712001-100712002 8:99699773-99699774
8 CNGB3 NM_019098.4(CNGB3):c.1285del (p.Ser429fs)deletion Pathogenic/Likely pathogenic 427658 rs776896038 8:87645015-87645015 8:86632787-86632787
9 GNAT2 NM_005272.4(GNAT2):c.906C>A (p.Tyr302Ter)SNV Likely pathogenic 438058 rs1553226355 1:110146135-110146135 1:109603513-109603513
10 CNGB3 NM_019098.4(CNGB3):c.1810C>T (p.Arg604Ter)SNV Likely pathogenic 438042 rs200805087 8:87591452-87591452 8:86579224-86579224
11 RBP4 NM_006744.4(RBP4):c.248+1G>ASNV Likely pathogenic 438114 rs111785373 10:95360423-95360423 10:93600666-93600666
12 TYR NM_000372.5(TYR):c.1037G>T (p.Gly346Val)SNV Likely pathogenic 437986 rs773970123 11:88960991-88960991 11:89227823-89227823
13 RPGRIP1 NM_020366.3(RPGRIP1):c.2398G>A (p.Glu800Lys)SNV Likely pathogenic 438161 rs565837539 14:21794020-21794020 14:21325861-21325861
14 NR2E3 NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp)SNV Likely pathogenic 438227 rs772881093 15:72104165-72104165 15:71811825-71811825
15 NYX NM_022567.2(NYX):c.936C>G (p.Asn312Lys)SNV Likely pathogenic 438056 rs1555967263 X:41333642-41333642 X:41474389-41474389
16 RP2 NM_006915.3(RP2):c.43del (p.Ser15fs)deletion Likely pathogenic 437945 rs1556313474 X:46696578-46696578 X:46837143-46837143
17 CACNA1F NM_005183.4(CACNA1F):c.3628C>T (p.Gln1210Ter)SNV Likely pathogenic 438125 rs782362725 X:49071548-49071548 X:49215088-49215088
18 CHM NM_000390.4(CHM):c.315-1536A>GSNV Likely pathogenic 438064 rs1555955061 X:85220593-85220593 X:85965588-85965588
19 AHI1 NM_001134831.2(AHI1):c.1912+1488_2036+506deldeletion Likely pathogenic 438231 6:135759007-135762232 6:135437869-135441094
20 TRPM6 deletion Likely pathogenic 438256 9:77388717-77398576 9:74773801-74783660
21 subset of 27 genes: PRRT2 GRCh37/hg19 16p11.2(chr16:29656684-30197341)copy number gain Likely pathogenic 523255 16:29656684-30197341
22 CNGA3 NM_001079878.2(CNGA3):c.107_110del (p.His36fs)deletion Likely pathogenic 438155 rs749036398 2:98994155-98994158 2:98377692-98377695
23 CNGB3 NM_019098.4(CNGB3):c.1208G>A (p.Arg403Gln)SNV Conflicting interpretations of pathogenicity 143154 rs147876778 8:87645092-87645092 8:86632864-86632864
24 CNGB3 NM_019098.4(CNGB3):c.1148del (p.Thr383fs)deletion Conflicting interpretations of pathogenicity 5225 rs397515360 8:87656009-87656009 8:86643781-86643781
25 VPS13B NM_017890.4(VPS13B):c.3628G>T (p.Asp1210Tyr)SNV Uncertain significance 95847 rs145417421 8:100479824-100479824 8:99467596-99467596
26 CACNA2D4 NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter)SNV Uncertain significance 208566 rs200098356 12:1969369-1969369 12:1860203-1860203
27 46;XX;inv(6)(p11.1q21)dninversion Uncertain significance 268013
28 AIFM3 , CRKL , LZTR1 , P2RX6 , PI4KA , SERPIND1 , SLC7A4 , SNAP29 , THAP7 GRCh37/hg19 22q11.21(chr22:21081260-21431174)copy number gain Uncertain significance 523275 22:21081260-21431174
29 TRHR GRCh37/hg19 8q23.1(chr8:109990022-110168343)copy number loss Uncertain significance 523291 8:109990022-110168343
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Expression for Eye Disease

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Search GEO for disease gene expression data for Eye Disease.
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Pathways for Eye Disease

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Pathways related to Eye Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
cAMP signaling pathway 36
12 TSHR CNGB3 CNGA3 CACNA1F
2
Creation of C4 and C2 activators 65
Show member pathways
 11.78 CFH CFB C3 C2
3
Complement and coagulation cascades 1 36
11.72 CFH CFB C3 C2
4
Immune response Lectin induced complement pathway 22
Show member pathways
 11.58 CFH CFB C3 C2
5
Visual Cycle in Retinal Rods 63
11.55 RDH12 CNGB3 CNGA3
6
Complement Pathway 63
Show member pathways
 11.28 CFH CFB C3 C2
7
Staphylococcus aureus infection 36
10.91 CFH CFB C3 C2
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GO Terms for Eye Disease

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Cellular components related to Eye Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 9.13 CNGB3 CACNA1F ABCA4
2 transmembrane transporter complex GO:1902495 8.62 CNGB3 CNGA3

Biological processes related to Eye Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.8 RDH12 CNGB3 CNGA3 CACNA1F ABCC6 ABCA4
2 retina development in camera-type eye GO:0060041 9.58 SERPINF1 PAX6 NPHP1
3 regulation of complement activation GO:0030449 9.56 CFH CFB C3 C2
4 complement activation GO:0006956 9.46 CFH CFB C3 C2
5 positive regulation of apoptotic cell clearance GO:2000427 9.37 C3 C2
6 visual perception GO:0007601 9.28 RDH12 PAX6 OAT IMPG2 CNGB3 CNGA3
7 complement activation, alternative pathway GO:0006957 9.13 CFH CFB C3

Molecular functions related to Eye Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cGMP binding GO:0030553 9.16 CNGB3 CNGA3
2 intracellular cAMP-activated cation channel activity GO:0005222 8.96 CNGB3 CNGA3
3 intracellular cGMP-activated cation channel activity GO:0005223 8.62 CNGB3 CNGA3
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Sources for Eye Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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
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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