MCID: ISC002
MIFTS: 57

Ischemic Optic Neuropathy malady

Eye diseases, Neuronal diseases, Rare diseases categories
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Summaries for Ischemic Optic Neuropathy

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Wikipedia:65 Ischemic optic neuropathy (ION) is the loss of structure and function of a portion of the optic nerve... more...

MalaCards based summary: Ischemic Optic Neuropathy, also known as optic neuropathy, ischemic, is related to anterior ischemic optic neuropathy and retinal artery occlusion. An important gene associated with Ischemic Optic Neuropathy is GP1BA (glycoprotein Ib (platelet), alpha polypeptide), and among its related pathways are Formation of Fibrin Clot (Clotting Cascade) and Angiogenesis. The compounds benazepril and chymostatin have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and liver, and related mouse phenotypes are liver/biliary system and embryogenesis.

Aliases & Classifications for Ischemic Optic Neuropathy

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Ischemic Optic Neuropathy, Aliases & Descriptions:

Name: Ischemic Optic Neuropathy 30 10
 
Optic Neuropathy, Ischemic 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Eye diseases, Neuronal diseases


Related Diseases for Ischemic Optic Neuropathy

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Diseases in the Anterior Ischemic Optic Neuropathy family:

ischemic optic neuropathy

Diseases related to Ischemic Optic Neuropathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 215)
idRelated DiseaseScoreTop Affiliating Genes
1anterior ischemic optic neuropathy32.8PDE5A, BEX1
2retinal artery occlusion31.9APOH
3branch retinal artery occlusion31.3F5
4migraine31.2MTHFR, APOH, PDE5A
5thrombophilia31.1F2, APOH, MTHFR, F5
6retinal vein occlusion31.1F5, VEGFA, APOH, MTHFR
7retinal vascular occlusion31.0APOH, F5
8antiphospholipid syndrome30.9MTHFR, F2, F5, APOH
9central retinal vein occlusion30.9F5, VEGFA, APOH, MTHFR
10hellp syndrome30.9MTHFR, APOH, F5
11vascular disease30.8VEGFA, APOH
12diabetic macular edema30.7VEGFA
13vasculitis30.6F2, APOH, CRP
14behcet's disease30.5APOH, F5, CRP
15thrombocytosis30.4F2, CRP, GP1BA
16thrombocytopenia30.3F5, ITGB3, GP1BA, F2, APOH
17deficiency anemia30.2ACE, F2, G6PD, CRP
18diabetic retinopathy29.8AGTR1, NOS3, AGT, VEGFA, ACE, ITGB3
19hypertension29.8AGTR1, AGT, NOS3, F5, CRP, PDE5A
20diabetes mellitus28.9EDN1, GP1BA, VEGFA, G6PD, MTHFR, MT-ND1
21neuropathy11.5
22arteritic anterior ischemic optic neuropathy11.0
23non-arteritic anterior ischemic optic neuropathy11.0
24retinitis10.9
25neuritis10.7
26optic neuritis10.7
27thrombophlebitis10.6APOH
28priapism10.6PDE5A
29sneddon syndrome10.6APOH
30central retinal artery occlusion10.6
31eclampsia10.6MTHFR
32factor xii deficiency10.6F5
33choroiditis10.6
34glucosephosphate dehydrogenase deficiency10.6G6PD
35acute chest syndrome10.6NOS3
36pyruvate kinase deficiency10.6G6PD
37mediterranean spotted fever10.5G6PD
38riboflavin deficiency10.5MTHFR
39mitral valve prolapse10.5AGTR1
40cataract10.5
41sleep apnea10.5
42gitelman syndrome10.5AGT
43homocysteinemia10.5MTHFR, F5
44mondor disease10.5F5, APOH
45hepatitis a10.5F2
46patent foramen ovale10.5F5
47hepatitis10.5
48hepatitis c10.5
49endotheliitis10.5
50low renin hypertension10.5EDN1

Graphical network of the top 20 diseases related to Ischemic Optic Neuropathy:



Diseases related to ischemic optic neuropathy

Symptoms for Ischemic Optic Neuropathy

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Drugs & Therapeutics for Ischemic Optic Neuropathy

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Drug clinical trials:

Search ClinicalTrials for Ischemic Optic Neuropathy

Search NIH Clinical Center for Ischemic Optic Neuropathy

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Ischemic Optic Neuropathy cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Ischemic Optic Neuropathy:
Renexus
Embryonic/Adult Cultured Cells Related to Ischemic Optic Neuropathy:
Human retinal stem cells secreting CNTF, PMIDs: 16805711, 17508034, 16505355, 23049090, 15684670, 12581701, 15223826, 18830926

Genetic Tests for Ischemic Optic Neuropathy

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Anatomical Context for Ischemic Optic Neuropathy

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MalaCards organs/tissues related to Ischemic Optic Neuropathy:

32
Eye, Endothelial, Liver, Brain, Spinal cord, Heart, Breast, Prostate, Testes

Animal Models for Ischemic Optic Neuropathy or affiliated genes

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MGI Mouse Phenotypes related to Ischemic Optic Neuropathy:

36 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.6VEGFA, ACE, ITGB3, F5, NOS3, AGT
2MP:00053808.5F5, ITGB3, G6PD, VEGFA, EDN1, F2
3MP:00053678.3EDN1, VEGFA, ACE, ITGB3, NOS3, AGT
4MP:00053898.3F2, VEGFA, MTHFR, ACE, ITGB3, NOS3
5MP:00053698.2EDN1, VEGFA, BEX1, ITGB3, NOS3, AGT
6MP:00053908.2F2, EDN1, VEGFA, MTHFR, ITGB3, NOS3
7MP:00036318.1F2, EDN1, VEGFA, G6PD, MTHFR, F5
8MP:00053877.8F2, VEGFA, ACE, ITGB3, CRP, NOS3
9MP:00053787.7F2, VEGFA, G6PD, MTHFR, ACE, ITGB3
10MP:00107687.2G6PD, APOH, VEGFA, EDN1, F2, MTHFR
11MP:00053857.2F2, EDN1, VEGFA, G6PD, ACE, ITGB3
12MP:00053766.1AGTR1, F2, EDN1, GP1BA, VEGFA, APOH

Publications for Ischemic Optic Neuropathy

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Articles related to Ischemic Optic Neuropathy:

(show top 50)    (show all 538)
idTitleAuthorsYear
1
Anterior ischemic optic neuropathy in pediatric peritoneal dialysis: risk factors and therapy. (24488506)
2014
2
Readout-Segmented Diffusion-Weighted Imaging in a Critical Anatomic Area - Diagnosing Posterior Ischemic Optic Neuropathy (PION). (25329511)
2014
3
Efficacy of granulocyte-colony stimulating factor treatment in a rat model of anterior ischemic optic neuropathy. (25317164)
2014
4
Sequential episodes of perioperative ischemic optic neuropathy after hip surgery. (24621863)
2014
5
Severe, early axonal degeneration following experimental anterior ischemic optic neuropathy. (25249599)
2014
6
Intravitreal bevacizumab for the treatment of nonarteritic anterior ischemic optic neuropathy: a prospective trial. (23370417)
2013
7
Sectoral loss of myelin and axons in anterior ischemic optic neuropathy. (23528450)
2013
8
Anterior ischemic optic neuropathy and dialysis: Effect of hypotension. (23772133)
2013
9
Tonic pupil, anterior ischemic optic neuropathy in a teenager with Takayasu arteritis. (24314433)
2013
10
Sustained neuroprotection from a single intravitreal injection of PGJ2 in a rodent model of anterior ischemic optic neuropathy. (24106118)
2013
11
A Study of Prevalence and Risk Factors of Diabetic Retinopathy in Patients with Non-Arteritic Anterior Ischemic Optic Neuropathy (NA-AION). (24171808)
2013
12
Evaluation of inner retinal thickness around the optic disc using optical coherence tomography of a rodent model of nonarteritic ischemic optic neuropathy. (23053634)
2013
13
Impending anterior ischemic optic neuropathy with elements of retinal vein occlusion in a patient on interferon for polycythemia vera. (23152654)
2012
14
You're the flight surgeon: nonarteritic ischemic optic neuropathy. (22764620)
2012
15
Bilateral posterior ischemic optic neuropathy in a patient with severe diabetic ketoacidosis. (21475607)
2011
16
Cellular inflammation in nonarteritic anterior ischemic optic neuropathy and its primate model. (22159678)
2011
17
Ischemic optic neuropathy as a rare but potentially devastating complication of liposuction. (21460684)
2011
18
Changes in cholinergic amacrine cells after rodent anterior ischemic optic neuropathy (rAION). (20847114)
2011
19
Non-arteritic ischemic optic neuropathy followed by intravitreal bevacizumab injection: is there an association? (20534939)
2010
20
A case of decreased visual field after uneventful cataract surgery: nonarteritic anterior ischemic optic neuropathy. (20157417)
2010
21
Clinical profile of patients with nonarteritic anterior ischemic optic neuropathy presented to a referral center from 2003 to 2008. (19722769)
2009
22
Non-arteritic anterior ischemic optic neuropathy and thrombophilia. (18958485)
2009
23
Nonarteritic anterior ischemic optic neuropathy associated with chronic anemia: a case series of myelodysplastic syndrome patients. (19668557)
2009
24
Ischemic optic neuropathy associated with low-dose interferon alfa: report of two cases. (19194130)
2009
25
Visual function in anterior ischemic optic neuropathy: effect of Vision Restoration Therapy--a pilot study. (18207164)
2008
26
Ischemic optic neuropathy. (18826805)
2008
27
A primate model of nonarteritic anterior ischemic optic neuropathy. (18326695)
2008
28
Nonarteritic anterior ischemic optic neuropathy after uneventful phacoemulsification: case report. (17768569)
2007
29
A case of polyarteritis nodosa complicated by left central retinal artery occlusion, ischemic optic neuropathy, and retinal vasculitis. (16575492)
2007
30
Incidence of nonarteritic anterior ischemic optic neuropathy in adult Chinese: the Beijing Eye Study. (17534837)
2007
31
Perioperative posterior ischemic optic neuropathy: review of the literature. (15621075)
2005
32
Phosphodiesterase 5 inhibitors and nonarteritic anterior ischemic optic neuropathy (NAION): coincidence or causality? (16422800)
2005
33
Bilateral anterior ischemic optic neuropathy after liposuction. (15348986)
2004
34
Anterior ischemic optic neuropathy following off-pump cardiac bypass surgery. (15513001)
2003
35
Recurrent facial palsy occurring with metastatic thymic carcinoid and nonarteritic ischemic optic neuropathy. (12644770)
2003
36
Overlap of optic neuritis and anterior ischemic optic neuropathy. (12601716)
2003
37
Posterior ischemic optic neuropathy related to profound shock after penetrating thoracoabdominal trauma. (12356108)
2002
38
Chlamydia in anterior ischemic optic neuropathy. (12065860)
2002
39
Anterior ischemic optic neuropathy caused by interferon alpha therapy. (12034426)
2002
40
Comparative studies on pattern VECP between patients with ischemic optic neuropathy and optic neuritis. (10990041)
2000
41
Ophthaproblem. Anterior ischemic optic neuropathy. (10424264)
1999
42
Prothrombotic and vascular risk factors in nonarteritic anterior ischemic optic neuropathy. (10599644)
1999
43
Incidence of nonarteritic anterior ischemic optic neuropathy. (9186104)
1997
44
Bilateral nonarteritic anterior ischemic optic neuropathy. (9022091)
1997
45
Anterior ischemic optic neuropathy following neck dissection. (9059874)
1997
46
Anterior ischemic optic neuropathy associated with pulseless disease. (8751345)
1995
47
Postoperative ischemic optic neuropathy. (7726399)
1995
48
Fluorescein angiography in acute nonarteritic anterior ischemic optic neuropathy. (8116751)
1994
49
Risk factors in nonarteritic anterior ischemic optic neuropathy. (2077825)
1990
50
Ischemic optic neuropathy in chronic papilledema. (7362508)
1980

Variations for Ischemic Optic Neuropathy

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Expression for genes affiliated with Ischemic Optic Neuropathy

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Expression patterns in normal tissues for genes affiliated with Ischemic Optic Neuropathy

Search GEO for disease gene expression data for Ischemic Optic Neuropathy.

Pathways for genes affiliated with Ischemic Optic Neuropathy

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Pathways related to Ischemic Optic Neuropathy according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8GP1BA, F5, F2
2
Show member pathways
Angiogenesis37
9.7NOS3, VEGFA
3
Show member pathways
IL23-mediated signaling events37
Immune response IL 10 signaling pathway60
Angiopoietin receptor Tie2-mediated signaling37
Development PDGF signaling via STATs and NF kB60
Development Angiopoietin Tie2 signaling60
9.7F2, AGTR1, NOS3
4
Show member pathways
9.6ITGB3, GP1BA, F2
5
Show member pathways
thioredoxin pathway37
9.5F2, MTHFR, CRP
6
Show member pathways
9.4EDN1, AGT, AGTR1, F2
7
Show member pathways
9.4ACE, AGT, F2, AGTR1
8
Show member pathways
9.4AGT, AGTR1, NOS3, ACE
99.4EDN1, VEGFA, NOS3
109.4NOS3, PDE5A
11
Show member pathways
9.3F5, VEGFA, ITGB3
12
Show member pathways
9.3ITGB3, VEGFA, NOS3
13
Show member pathways
9.3VEGFA, NOS3, ITGB3
14
Show member pathways
VEGFR1 specific signals37
9.3NOS3, ITGB3, VEGFA
15
Show member pathways
9.2VEGFA, EDN1, CRP
16
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
9.0ITGB3, NOS3, AGTR1, F2, EDN1
17
Show member pathways
7.8F2, VEGFA, ITGB3, PDE5A, F5, NOS3

Compounds for genes affiliated with Ischemic Optic Neuropathy

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Compounds related to Ischemic Optic Neuropathy according to GeneCards/GeneDecks:

(show top 50)    (show all 218)
idCompoundScoreTop Affiliating Genes
1benazepril44 50 1111.8AGTR1, ACE, MTHFR, AGT
2chymostatin449.7AGT, EDN1, AGTR1, ACE
3ristocetin449.6F2, GP1BA, ITGB3, F5
4sele449.6MTHFR, ACE, AGT, ITGB3
5kininogen449.6ACE, F5, F2, APOH, GP1BA
6warfarin44 50 24 1112.6APOH, F5, ACE, MTHFR, F2
7irbesartan44 28 50 1112.5AGTR1, EDN1, ACE, AGT
8diltiazem44 28 50 1112.5F2, EDN1, ACE, AGT, AGTR1
9quinapril44 50 1111.5EDN1, ACE, CRP, AGTR1
10lisinopril44 50 24 1112.5AGTR1, ACE, VEGFA, AGT
11vitamin b12449.5G6PD, MTHFR, APOH, CRP, F5
12telmisartan44 28 1111.4AGTR1, AGT, CRP, ACE
138-isoprostane449.4NOS3, EDN1, APOH, AGTR1, CRP
14valsartan44 61 28 1112.3EDN1, CRP, ACE, AGT, AGTR1
15atenolol44 50 28 24 1113.3AGT, EDN1, ACE, AGTR1, CRP
16uric acid44 2410.3F5, CRP, MTHFR, G6PD, APOH, AGTR1
17candesartan44 50 28 1112.3VEGFA, AGT, NOS3, AGTR1, ACE
18phosphatidylserine44 28 1111.2F5, ITGB3, G6PD, APOH, GP1BA, F2
19azathioprine44 2 50 1112.2G6PD, APOH, MTHFR, CRP, NOS3, AGTR1
20carvedilol44 50 28 1112.2AGTR1, ACE, EDN1, VEGFA, NOS3
21epinephrine44 24 1111.2EDN1, GP1BA, G6PD, F2, AGT, F5
22losartan44 50 28 1112.2ACE, AGTR1, AGT, CRP, EDN1
23apocynin44 6110.1VEGFA, AGT, NOS3, EDN1
24clopidogrel44 50 24 1112.1NOS3, CRP, ITGB3, F2, ACE
25abciximab44 1110.0CRP, ITGB3, GP1BA, F2
26pravastatin44 50 28 24 1113.0NOS3, MTHFR, ACE, CRP, AGTR1
27homocysteine44 2410.0MTHFR, CRP, AGT, NOS3, F2, F5
28ang ii449.0VEGFA, ACE, EDN1, NOS3, AGT, AGTR1
29hydrochlorothiazide44 28 50 24 1112.9CRP, AGT, AGTR1, ACE
30perindopril44 50 1110.8VEGFA, AGT, CRP, NOS3, AGTR1, ACE
31cyclophosphamide44 50 1110.8VEGFA, CRP, APOH, G6PD, MTHFR, NOS3
32lactate448.7F2, GP1BA, CRP, MT-ND1, G6PD, F5
33heparin44 28 24 1111.7APOH, AGT, AGTR1, GP1BA, VEGFA, F5
34simvastatin44 50 61 28 24 1113.7F2, VEGFA, F5, AGT, AGTR1, CRP
35sildenafil28 44 50 24 1112.6PDE5A, ACE, NOS3, EDN1, VEGFA
36atorvastatin44 50 28 24 1112.6F5, VEGFA, EDN1, ACE, CRP, NOS3
37nitroglycerin44 119.5CRP, NOS3, AGTR1, PDE5A, ACE, EDN1
38folate448.5PDE5A, MTHFR, NOS3, G6PD, APOH, CRP
39fibrinogen448.5GP1BA, APOH, MTHFR, ITGB3, CRP, F5
40creatinine448.2APOH, AGT, ACE, AGTR1, F5, CRP
41acetylcholine44 50 28 24 1112.1AGTR1, AGT, NOS3, CRP, EDN1, ACE
42glucose448.1AGT, CRP, ITGB3, ACE, GP1BA, APOH
43alanine448.1MT-ND1, ITGB3, MTHFR, F2, GP1BA, CRP
44serine448.0AGTR1, AGT, NOS3, F5, ITGB3, MT-ND1
45nitric oxide44 24 119.9NOS3, F5, PDE5A, AGTR1, ACE, APOH
46aspirin44 50 28 2410.9CRP, F5, NOS3, AGTR1, ITGB3, ACE
47estrogen447.5MTHFR, F5, F2, AGTR1, NOS3, PDE5A
48vegf447.2AGTR1, F5, PDE5A, AGT, EDN1, VEGFA
49prostacyclin447.1AGTR1, EDN1, GP1BA, VEGFA, APOH, ACE
50calcium44 50 24 119.8GP1BA, ACE, EDN1, FLVCR2, APOH, ITGB3

GO Terms for genes affiliated with Ischemic Optic Neuropathy

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Cellular components related to Ischemic Optic Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.2F2, EDN1, VEGFA, ACE, CRP, F5
2extracellular spaceGO:0056157.7F2, EDN1, VEGFA, APOH, ACE, CRP

Biological processes related to Ischemic Optic Neuropathy according to GeneCards/GeneDecks:

(show all 43)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of NAD(P)H oxidase activityGO:03386410.4AGT, AGTR1
2regulation of blood vessel size by renin-angiotensinGO:00203410.4AGT, AGTR1
3regulation of blood coagulationGO:03019310.4F2, GP1BA
4regulation of renal sodium excretionGO:03581310.4AGT, AGTR1
5renin-angiotensin regulation of aldosterone productionGO:00201810.4AGT, AGTR1
6negative regulation of smooth muscle cell apoptotic processGO:03439210.4EDN1, APOH
7negative regulation of fibrinolysisGO:05191810.3F2, APOH
8regulation of renal output by angiotensinGO:00201910.3AGT, ACE
9positive regulation of cholesterol esterificationGO:01087310.3AGT, AGTR1
10low-density lipoprotein particle remodelingGO:03437410.3AGTR1, AGT
11artery smooth muscle contractionGO:01482410.3EDN1, AGT
12regulation of systemic arterial blood pressure by renin-angiotensinGO:00308110.3ACE, AGTR1
13regulation of systemic arterial blood pressure by endothelinGO:00310010.3EDN1, NOS3
14positive regulation of blood coagulationGO:03019410.3F2, APOH
15positive regulation of cellular protein metabolic processGO:03227010.2AGT, AGTR1
16blood coagulation, intrinsic pathwayGO:00759710.2F2, GP1BA, APOH
17negative regulation of platelet activationGO:01054410.2F2, NOS3
18regulation of vasodilationGO:04231210.2ACE, AGTR1
19negative regulation of blood coagulationGO:03019510.2APOH, EDN1
20angiotensin maturationGO:00200310.2ACE, AGT
21positive regulation of reactive oxygen species metabolic processGO:200037910.1AGTR1, AGT, F2
22positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling paGO:05148210.1EDN1, AGTR1
23positive regulation of macrophage derived foam cell differentiationGO:01074410.1AGTR1, AGT
24positive regulation of renal sodium excretionGO:03581510.1EDN1, AGT
25blood vessel remodelingGO:00197410.0ACE, NOS3, AGT
26negative regulation of lipid storageGO:01088810.0ITGB3, CRP
27nitric oxide mediated signal transductionGO:00726310.0NOS3, AGT
28fibrinolysisGO:0427309.9GP1BA, F2
29negative regulation of macrophage derived foam cell differentiationGO:0107459.8CRP, ITGB3
30regulation of vasoconstrictionGO:0192299.8AGTR1, AGT, ACE, EDN1
31cell surface receptor signaling pathwayGO:0071669.7GP1BA, EDN1, F2
32positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.7AGT, ITGB3, VEGFA
33platelet degranulationGO:0025769.7F5, ITGB3, VEGFA
34positive regulation of vascular endothelial growth factor receptor signaling pathwayGO:0309499.6ITGB3, VEGFA
35positive regulation of protein phosphorylationGO:0019349.6F2, VEGFA, ITGB3
36kidney developmentGO:0018229.6AGTR1, AGT, ACE, VEGFA
37positive regulation of cardiac muscle hypertrophyGO:0106139.5AGT, PDE5A, EDN1
38positive regulation of endothelial cell migrationGO:0105959.4EDN1, VEGFA, ITGB3, AGT
39positive regulation of branching involved in ureteric bud morphogenesisGO:0901909.4AGT, VEGFA
40response to hypoxiaGO:0016669.4CRP, MTHFR, VEGFA, EDN1
41platelet activationGO:0301689.3F2, GP1BA, VEGFA, ITGB3, F5
42positive regulation of MAP kinase activityGO:0434069.2PDE5A, VEGFA, EDN1
43blood coagulationGO:0075968.2F2, GP1BA, VEGFA, ITGB3, PDE5A, F5

Molecular functions related to Ischemic Optic Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1bradykinin receptor bindingGO:03171110.0AGTR1, ACE
2NADP bindingGO:0506619.7G6PD, MTHFR, NOS3
3vascular endothelial growth factor receptor 2 bindingGO:0431849.4ITGB3, VEGFA
4growth factor activityGO:0080839.4AGT, VEGFA, F2
5platelet-derived growth factor receptor bindingGO:0051619.2ITGB3, VEGFA
6protein bindingGO:0055156.7AGTR1, F2, EDN1, GP1BA, VEGFA, APOH

Products for genes affiliated with Ischemic Optic Neuropathy

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  • Antibodies
  • Proteins
  • Lysates

Sources for Ischemic Optic Neuropathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet