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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 55 43 44 15
Abnormality of the Eye 29 6

Classifications:

MalaCards categories:
Anatomical: Eye diseases
See all MalaCards categories (disease lists)
ICD10: 33


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Disease Ontology 12 DOID:5614
ICD9CM 35 360 360.9 379.90
MeSH 44 D005128
NCIt 50 C26767
SNOMED-CT 68 79517001
ICD10 33 H44 H44.9
UMLS 72 C0015397
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Summaries for Eye Disease

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MedlinePlus : 43 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 CNGA3 (Cyclic Nucleotide Gated Channel Subunit Alpha 3), and among its related pathways/superpathways are cAMP signaling pathway and Phototransduction. The drugs Propylthiouracil and Ketorolac have been mentioned in the context of this disorder. Affiliated tissues include eye, thyroid and testes, and related phenotypes are nervous system and renal/urinary 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 736)
# Related Disease Score Top Affiliating Genes
1 macular degeneration, age-related, 1 33.8 SERPINF1 HTRA1 CNGA3 CFH CFB C3
2 retinal disease 32.9 RDH12 IMPG2 CNGB3 CFH CFB CACNA1F
3 retinitis pigmentosa 32.8 SERPINF1 RDH12 NPHP1 IMPG2 CNGA3 CACNA1F
4 macular degeneration, age-related, 14 32.7 CFB C2
5 kuhnt-junius degeneration 31.7 HTRA1 CFH CFB ARMS2
6 pathologic nystagmus 31.3 PAX6 CNGB3 CNGA3
7 congenital stationary night blindness 31.1 CNGB3 CACNA1F ABCA4
8 leber congenital amaurosis 31.1 SERPINF1 RDH12 NPHP1 CNGB3 CNGA3 ABCA4
9 membranoproliferative glomerulonephritis 31.0 CFH CFB C3
10 kidney disease 30.9 NPHP1 LCAT CFH C3
11 hemolytic-uremic syndrome 30.9 CFH CFB C3
12 stargardt disease 30.8 RDH12 CNGB3 ABCA4
13 central serous chorioretinopathy 30.8 CFH ARMS2
14 cone-rod dystrophy 3 30.8 CACNA1F ABCA4
15 achromatopsia 30.7 CNGB3 CNGA3 CACNA1F
16 achromatopsia 3 30.5 CNGB3 CNGA3 CACNA1F
17 fish-eye disease 12.6
18 aland island eye disease 12.6
19 bornholm eye disease 12.5
20 non-rare eye disease 12.1
21 obsolete: rare inflammatory eye disease 12.1
22 obsolete: rare eye disease due to a differentiation anomaly 12.1
23 rare genetic eye disease 12.1
24 obsolete: rare acquired eye disease 12.1
25 intraocular pressure quantitative trait locus 11.3
26 microvascular complications of diabetes 5 11.3
27 degeneration of macula and posterior pole 11.3 HTRA1 CFH CFB C3 ARMS2 ABCA4
28 retinal drusen 11.2 CFH CFB C3 C2 ARMS2
29 exophthalmos 11.2
30 multifocal choroiditis 11.2 HTRA1 CFH CFB ARMS2
31 optic nerve disease 11.2
32 choroiditis 11.2 HTRA1 CFH CFB ARMS2
33 lecithin:cholesterol acyltransferase deficiency 11.2
34 myopia 11.2
35 usher syndrome 11.2
36 dense deposit disease 11.2 CFH CFB C3
37 superior limbic keratoconjunctivitis 11.2
38 enterocolitis 11.2 CFH CFB C3
39 complement deficiency 11.1 CFH C3 C2
40 retinal detachment 11.1
41 hemolytic uremic syndrome, atypical 1 11.1 CFH CFB C3
42 ptosis 11.1
43 night blindness 11.1
44 corneal disease 11.1
45 retinal degeneration 11.1
46 ocular hypertension 11.1
47 cavitary optic disc anomalies 11.1
48 complement component 2 deficiency 11.1 CFB C2
49 coloboma of macula 11.1
50 microphthalmia 11.1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.03 ABCA4 C3 CACNA1F CFH CNGA3 CNGB3
2 renal/urinary system MP:0005367 9.56 ABCC6 C3 CFB CFH LCAT NPHP1
3 pigmentation MP:0001186 9.55 ABCA4 CFH OAT PAX6 SERPINF1
4 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 417)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propylthiouracil Approved, Investigational Phase 4 51-52-5 657298
2
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
3
Azithromycin Approved Phase 4 83905-01-5 447043 55185
4
Ethanol Approved Phase 4 64-17-5 702
5
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
6
Dinoprost Approved, Investigational Phase 4 551-11-1 5283078
7
Dinoprost tromethamine Approved, Vet_approved Phase 4 38562-01-5 5282415
8
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
9
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
10
Povidone Approved Phase 4 9003-39-8
11
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
12
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
13
Dorzolamide Approved Phase 4 120279-96-1 3154 5284549
14
Methimazole Approved Phase 4 60-56-0 1349907
15
Menthol Approved Phase 4 2216-51-5 16666
16
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
17
Sulfacetamide Approved Phase 4 144-80-9 5320
18
Mineral oil Approved, Vet_approved Phase 4 8042-47-5
19
Dipivefrin Approved Phase 4 52365-63-6 3105
20
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
21
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
22
Propranolol Approved, Investigational Phase 4 525-66-6 4946
23
Sorbitol Approved Phase 4 50-70-4 5780
24
Isotretinoin Approved Phase 4 4759-48-2 5282379 5538
25
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
26
Fluorometholone Approved, Investigational Phase 4 426-13-1 9878
27
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
28
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
29
Verteporfin Approved, Investigational Phase 4 129497-78-5
30
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
31
Eplerenone Approved Phase 4 107724-20-9 150310 443872
32
Levoleucovorin Approved, Investigational Phase 4 68538-85-2
33
Sulfadiazine Approved, Investigational, Vet_approved Phase 4 68-35-9 5215
34
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
35
Spiramycin Approved Phase 4 24916-50-5
36
Bevacizumab Approved, Investigational Phase 4 216974-75-3
37
Fluorouracil Approved Phase 4 51-21-8 3385
38
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
39
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
40
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
41
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
42
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
43
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
44
Castor oil Approved, Investigational, Nutraceutical, Vet_approved Phase 4 8001-79-4
45
Histidine Approved, Nutraceutical Phase 4 71-00-1 6274
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 Antithyroid Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 797)
# Name Status NCT ID Phase Drugs
1 A Randomized Trial of Intravenous Pulse Versus Sequential Steroid Therapy for Patients With Graves' Orbitopathy Unknown status NCT01969019 Phase 4 methylprednisolone, prednisone
2 An Open Label Comparing the Short Term Efficacy of Lacrisert Unknown status NCT03079271 Phase 4 Lacrisert, 5 Mg Ophthalmic Insert
3 Eight Week Feasibility Study Enrolling Dry Eye Subjects Confirmed by Four of Seven Dianostic Markers Responding to Nutritional Therapy Unknown status NCT01561040 Phase 4
4 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
5 Use of Vascular Endothelial Growth Factor Inhibitor, Bevacizumab to Modulate the Outcomes of Trabeculectomy Surgery Unknown status NCT01229202 Phase 4 Bevacizumab
6 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
7 The Effect of Early Total Thyroidectomy in the Course of Graves' Orbitopathy Unknown status NCT01056419 Phase 4 Propylthiouracil
8 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
9 Echothiophate Iodide for the Prevention of Progression of Myopia Unknown status NCT02544529 Phase 4 Echothiophate Iodide 0.03% Ophthalmic Solution;Carboxymethylcellulose Sodium (0.5%)
10 New Horizons in the Treatment of Vitreous Floaters: Efficacy and Safety of Vitreolysis With the Ultra Q Reflex YAG Laser (Ellex) Unknown status NCT02812004 Phase 4
11 Objective Measurements of Prolonged Effects of Restasis on Dry Eye Disease Completed NCT00567177 Phase 4 Restasis, Refresh Plus
12 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
13 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
14 Safety Study of the Use of Topical Cyclosporine in the Treatment of Dry Eye Disease Completed NCT02004067 Phase 4 Restasis;Refresh Endura
15 Effect of Lifitegrast on Dry Eye Disease Signs and Symptoms Completed NCT03451396 Phase 4 Lifitegrast
16 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
17 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
18 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
19 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
20 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)
21 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
22 Ocular Responses to Acute and Chronic Lens Wear Completed NCT00722891 Phase 4
23 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
24 A Comparison of Optive in Patients Previously Using Systane for the Treatment of Dry Eye Completed NCT00399230 Phase 4 Optive
25 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)
26 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
27 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252888 Phase 4
28 A Prospective Evaluation of Open-angle Glaucoma Subjects on One Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252862 Phase 4
29 A Prospective, Unmasked Evaluation of the iStent in Patients With Primary Open-Angle Glaucoma Completed NCT00911924 Phase 4
30 Investigation of Maintaining Visual Performance Achieved With Cyclosporine Therapy Completed NCT02121847 Phase 4 cyclosporine 0.05% ophthalmic emulsion;carboxymethylcellulose-based lubricant eye drops
31 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
32 Effect of High-Dose Prednisolone (Solu Dacortin®) Treatment on Choroidal and Optic Nerve Head Blood Flow in Humans Completed NCT00312325 Phase 4 Prednisolone
33 Safety and Efficacy of Lifitegrast 5% Ophthalmic Solution in Contact Lens Discomfort Completed NCT03686878 Phase 4 Lifitegrast
34 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
35 Evaluation of Tear Osmolarity Over Time With Sustained Use of Thera Tears Lubricating Completed NCT02758327 Phase 4 TheraTears Lubricating Eye Drops
36 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%
37 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
38 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
39 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
40 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
41 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
42 Influence of Lachrymal Substitutes on Tear Film Thickness in Patients With Moderate Dry Eye Syndrome Completed NCT01864330 Phase 4
43 12-Month Stability of Diurnal IOP Control on Cosopt Completed NCT00379834 Phase 4 Cosopt
44 Lipids of the Human Tear Film and Their Effect on Tear Stability Completed NCT00803452 Phase 4 doxycycline;azithromycin
45 Influence of Lachrymal Substitute Gels on Tear Film Thickness in Patients With Moderate to Severe Dry Eye Syndrome Completed NCT02585453 Phase 4
46 Clinical Trial of Interventions for Visual Loss in Nursing Home Residents Completed NCT00348621 Phase 4
47 Steroids for Corneal Ulcers Trial Completed NCT00324168 Phase 4 Antibiotics;Topical corticosteroid;Placebo
48 Eliminating Trachoma With Repeat Mass Drug Treatment Completed NCT00322972 Phase 4 Mass treatment with oral azithromycin to an entire community
49 Tripartite International Research for the Elimination of Trachoma Completed NCT01202331 Phase 4 mass treatment with oral azithromycin
50 Comparison of the Vascular Endothelial Growth Factor Serum Concentrations After Intravitreal Use of Bevacizumab or Ranibizumab as a Treatment for Type 1 Retinopathy of Prematurity Completed NCT03148132 Phase 4 Bevacizumab Injection;Ranibizumab Ophthalmic

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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MalaCards organs/tissues related to Eye Disease:

41
Eye, Thyroid, Testes, Endothelial, Retina, Bone, T Cells

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

19
Eye
Sources

Publications for Eye Disease

About this section

Articles related to Eye Disease:

(show top 50) (show all 10476)
# Title Authors PMID Year
1
Neurofibromatosis type 1 with tarsal conjunctiva thickening: A case report. 17
31374061 2019
2
Diagnostic accuracy of optical coherence tomography angiography for choroidal neovascularization: a systematic review and meta-analysis. 17
31349806 2019
3
Risk factors for neck hematoma requiring surgical re-intervention after thyroidectomy: a systematic review and meta-analysis. 17
31340806 2019
4
PEDF in angiogenic eye diseases. 9 38
20236057 2010
5
Pathogenesis of thyroid eye disease--does autoimmunity against the TSH receptor explain all cases? 9 38
20464711 2010
6
Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant. 9 38
20085643 2010
7
Implications of new monoclonal antibodies and the crystal structure of the TSH receptor for the treatment and management of thyroid diseases. 9 38
20477447 2008
8
Effects of sequential artificial tear and cyclosporine emulsion therapy on conjunctival goblet cell density and transforming growth factor-beta2 production. 9 38
18245969 2008
9
Pigment epithelium-derived factor prevents melanoma growth via angiogenesis inhibition. 9 38
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. 9 38
17389742 2007
11
L1 retrotransposition can occur early in human embryonic development. 9 38
17483097 2007
12
A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency. 9 38
17439325 2007
13
Pigment epithelium-derived factor (PEDF) inhibits angiotensin II-induced smooth muscle cell proliferation through its anti-oxidative properties. 9 38
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. 9 38
17042681 2006
15
[Establishing the linkage disequilibrium pattern for the all-trans-retinol dehydrogenase (RDH8) gene]. 9 38
17081426 2006
16
High prevalence of alpha 1 antitrypsin phenotypes in viral hepatitis B infected patients in Iran. 9 38
16260177 2005
17
Pigment epithelium-derived factor (PEDF)-induced apoptosis and inhibition of vascular endothelial growth factor (VEGF) expression in MG63 human osteosarcoma cells. 9 38
15985268 2005
18
[Fish eye disease revealing a partial LCAT deficiency]. 9 38
15936482 2005
19
PAX6 mutations: genotype-phenotype correlations. 9 38
15918896 2005
20
Alpha-1-antitrypsin phenotypes and HLA-B27 typing in uveitis patients in southeast Iran. 9 38
15820772 2005
21
Mutation analysis of PAX6 gene in a large Chinese family with aniridia. 9 38
15740668 2005
22
Met72Thr polymorphism of pigment epithelium-derived factor gene and susceptibility to age-related macular degeneration. 9 38
15823717 2005
23
Concentration of transforming growth factor beta2 in aqueous humor. 9 38
15637419 2005
24
Gene symbol: LCAT. Disease: Fish eye disease. 9 38
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. 9 38
16982592 2004
26
Decrease of pigment epithelium-derived factor in aqueous humor with increasing age. 9 38
15126162 2004
27
Bioinformatic approaches for identification and characterization of olfactomedin related genes with a potential role in pathogenesis of ocular disorders. 9 38
15123989 2004
28
Overexpression of pigment epithelium-derived factor decreases angiogenesis and inhibits the growth of human malignant melanoma cells in vivo. 9 38
15039211 2004
29
Using denaturing HPLC for SNP discovery and genotyping, and establishing the linkage disequilibrium pattern for the all-trans-retinol dehydrogenase (RDH8) gene. 9 38
14661078 2004
30
[Ocular manifestation in LCAT deficiency--a clinicopathological correlation]. 9 38
12886512 2003
31
Identification of differentially expressed genes in keratoconus epithelium analyzed on microarrays. 9 38
12766045 2003
32
Adipose thyrotrophin receptor expression is elevated in Graves' and thyroid eye diseases ex vivo and indicates adipogenesis in progress in vivo. 9 38
12790806 2003
33
The molecular genetics of the corneal dystrophies--current status. 9 38
12700042 2003
34
Pigment epithelium-derived factor inhibits leptin-induced angiogenesis by suppressing vascular endothelial growth factor gene expression through anti-oxidative properties. 9 38
12711260 2003
35
Inhibitory effects of ketotifen on eotaxin-dependent activation of eosinophils: consequences for allergic eye diseases. 9 38
12752326 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. 9 38
12519841 2003
37
[Ocular Manifestation of Mucopolysaccharidosis I-S (Scheie's Syndrome)]. 9 38
12447720 2002
38
Demonstration of immunoglobulin G, A, and E autoantibodies to the human thyrotropin receptor using flow cytometry. 9 38
11932312 2002
39
Differential occurrence of mutations causative of eye diseases in the Chinese population. 9 38
11857735 2002
40
Loss of the antiangiogenic pigment epithelium-derived factor in patients with angiogenic eye disease. 9 38
11723044 2001
41
[LCAT (lecithin:cholesterol acyltransferase)]. 9 38
11797372 2001
42
Quantification of MUC5AC protein in human tears. 9 38
11685069 2001
43
Association of thyrotrophin receptor antibodies with the clinical features of Graves' ophthalmopathy. 9 38
10718823 2000
44
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. 9 38
10711710 2000
45
Development of an animal model of autoimmune thyroid eye disease. 9 38
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. 9 38
9709953 1998
47
Role of eye muscle antibody measurement in diagnosis of thyroid-associated ophthalmopathy: a laboratory update. 9 38
15251739 1998
48
The thyrotropin receptor in thyroid eye disease. 9 38
9623732 1998
49
[Lecithin-cholesterol acyltransferase deficiency and fish eye disease]. 9 38
9645018 1998
50
Reverse cholesterol transport--a review of the process and its clinical implications. 9 38
9399019 1997
Sources

Variations for Eye Disease

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ClinVar genetic disease variations for Eye Disease:

6 (show all 29)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RDH12 NM_152443.3(RDH12): c.806_810del (p.Ala269fs) deletion Pathogenic rs386834261 14:68196055-68196059 14:67729338-67729342
2 VPS13B NM_017890.4(VPS13B): c.2591C> A (p.Ser864Ter) single nucleotide variant Pathogenic rs140936527 8:100286501-100286501 8:99274273-99274273
3 CNGA3 NM_001079878.2(CNGA3): c.1634G> A (p.Arg545His) single nucleotide variant Pathogenic rs552069173 2:99013321-99013321 2:98396858-98396858
4 IMPG2 NM_016247.4(IMPG2): c.1680T> A (p.Tyr560Ter) single nucleotide variant Pathogenic rs758291149 3:100963495-100963495 3:101244651-101244651
5 ABCC6 NM_001171.5(ABCC6): c.4104del (p.Asp1368fs) deletion Pathogenic rs72664237 16:16248589-16248589 16:16154732-16154732
6 CNGB3 NM_019098.4(CNGB3): c.1285del (p.Ser429fs) deletion Pathogenic/Likely pathogenic rs776896038 8:87645015-87645015 8:86632787-86632787
7 VPS13B NM_017890.4(VPS13B): c.6370_6371del (p.Met2124fs) deletion Pathogenic/Likely pathogenic rs748404277 8:100712001-100712002 8:99699773-99699774
8 ABCC6 NM_001171.5(ABCC6): c.3389C> T (p.Thr1130Met) single nucleotide variant Pathogenic/Likely pathogenic rs63750459 16:16256967-16256967 16:16163110-16163110
9 CNGA3 NM_001079878.2(CNGA3): c.107_110del (p.His36fs) deletion Likely pathogenic rs749036398 2:98994155-98994158 2:98377692-98377695
10 GNAT2 NM_005272.4(GNAT2): c.906C> A (p.Tyr302Ter) single nucleotide variant Likely pathogenic rs1553226355 1:110146135-110146135 1:109603513-109603513
11 TRPM6 deletion Likely pathogenic 9:77388717-77398576 9:74773801-74783660
12 CHM NM_000390.4(CHM): c.315-1536A> G single nucleotide variant Likely pathogenic rs1555955061 X:85220593-85220593 X:85965588-85965588
13 CACNA1F NM_005183.4(CACNA1F): c.3628C> T (p.Gln1210Ter) single nucleotide variant Likely pathogenic rs782362725 X:49071548-49071548 X:49215088-49215088
14 RP2 NM_006915.3(RP2): c.43del (p.Ser15fs) deletion Likely pathogenic rs1556313474 X:46696578-46696578 X:46837143-46837143
15 NYX NM_022567.2(NYX): c.936C> G (p.Asn312Lys) single nucleotide variant Likely pathogenic rs1555967263 X:41333642-41333642 X:41474389-41474389
16 CNGB3 NM_019098.4(CNGB3): c.1810C> T (p.Arg604Ter) single nucleotide variant Likely pathogenic rs200805087 8:87591452-87591452 8:86579224-86579224
17 RBP4 NM_006744.4(RBP4): c.248+1G> A single nucleotide variant Likely pathogenic rs111785373 10:95360423-95360423 10:93600666-93600666
18 TYR NM_000372.5(TYR): c.1037G> T (p.Gly346Val) single nucleotide variant Likely pathogenic rs773970123 11:88960991-88960991 11:89227823-89227823
19 RPGRIP1 NM_020366.3(RPGRIP1): c.2398G> A (p.Glu800Lys) single nucleotide variant Likely pathogenic rs565837539 14:21794020-21794020 14:21325861-21325861
20 NR2E3 NM_014249.4(NR2E3): c.305C> A (p.Ala102Asp) single nucleotide variant Likely pathogenic rs772881093 15:72104165-72104165 15:71811825-71811825
21 AHI1 NM_001134831.2(AHI1): c.1912+1488_2036+506del deletion Likely pathogenic 6:135759007-135762232 6:135437869-135441094
22 subset of 27 genes:PRRT2 GRCh37/hg19 16p11.2(chr16: 29656684-30197341) copy number gain Likely pathogenic 16:29656684-30197341 :0-0
23 CNGB3 NM_019098.4(CNGB3): c.1208G> A (p.Arg403Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs147876778 8:87645092-87645092 8:86632864-86632864
24 CNGB3 NM_019098.4(CNGB3): c.1148del (p.Thr383fs) deletion Conflicting interpretations of pathogenicity rs397515360 8:87656009-87656009 8:86643781-86643781
25 VPS13B NM_017890.4(VPS13B): c.3628G> T (p.Asp1210Tyr) single nucleotide variant Uncertain significance rs145417421 8:100479824-100479824 8:99467596-99467596
26 CACNA2D4 NM_172364.5(CACNA2D4): c.1882C> T (p.Arg628Ter) single nucleotide variant Uncertain significance rs200098356 12:1969369-1969369 12:1860203-1860203
27 AIFM3 ; CRKL ; LZTR1 ; P2RX6 ; PI4KA ; SERPIND1 ; SLC7A4 ; SNAP29 ; THAP7 GRCh37/hg19 22q11.21(chr22: 21081260-21431174) copy number gain Uncertain significance 22:21081260-21431174 :0-0
28 46;XX;inv(6)(p11.1q21)dn inversion Uncertain significance
29 TRHR GRCh37/hg19 8q23.1(chr8: 109990022-110168343) copy number loss Uncertain significance 8:109990022-110168343 :0-0
Sources

Expression for Eye Disease

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

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 37
12 TSHR CNGB3 CNGA3 CACNA1F
2
Phototransduction 37
Show member pathways
 11.83 RDH12 CNGB3 CNGA3
3
Creation of C4 and C2 activators 66
Show member pathways
 11.78 CFH CFB C3 C2
4
Complement and coagulation cascades 37 1
11.7 CFH CFB C3 C2
5
Visual Cycle in Retinal Rods 64
11.58 RDH12 CNGB3 CNGA3
6
Immune response Lectin induced complement pathway 22
Show member pathways
 11.58 CFH CFB C3 C2
7
Complement Pathway 64
Show member pathways
 11.28 CFH CFB C3 C2
8
Development_Thrombopoetin signaling via JAK-STAT pathway 22
10.94 RDH12 CNGB3 CNGA3
9
Staphylococcus aureus infection 37
10.91 CFH CFB C3 C2
Sources

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 blood microparticle GO:0072562 9.33 CFH CFB C3
2 photoreceptor outer segment GO:0001750 9.13 CNGB3 CACNA1F ABCA4
3 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 serine-type peptidase activity GO:0008236 9.5 HTRA1 CFB C2
2 serine-type endopeptidase activity GO:0004252 9.33 HTRA1 CFB C2
3 cGMP binding GO:0030553 9.26 CNGB3 CNGA3
4 intracellular cAMP-activated cation channel activity GO:0005222 8.96 CNGB3 CNGA3
5 intracellular cGMP-activated cation channel activity GO:0005223 8.62 CNGB3 CNGA3
Sources

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 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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