MCID: ELS001
MIFTS: 47

Eales Disease malady

Categories: Rare diseases, Eye diseases, Cardiovascular diseases

Aliases & Classifications for Eales Disease

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Sources:
46NIH Rare Diseases, 52Orphanet, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Eales Disease:

Name: Eales Disease 46 52 48 66
Idiopathic Recurrent Vitreal Hemorrhage 46
Idiopathic Obliterative Vasculopathy 46
 
Idiopathic Retinal Perivasculitis 52
Idiopathic Retinal Vasculitis 52

Characteristics:

Orphanet epidemiological data:

52
eales disease:
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult; Age of death: normal life expectancy

Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

Orphanet52 ORPHA40923
ICD10 via Orphanet29 H35.0
MESH via Orphanet38 C538011
UMLS via Orphanet67 C0271073

Summaries for Eales Disease

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NIH Rare Diseases:46 Eales disease is a rare vision disorder that appears as an inflammation and white haze around the outercoat of the veins in the retina. this condition is most common among young males and normally affects both eyes. in most cases, vision becomes suddenly blurred because the vitreous, the clear jelly that fills the eyeball behind the lens of the eye, seeps out. treatment includes corticosteroids in the inflammation stage and photocoagulation in the proliferative stage of the disease. visual prognosis is good if treatment begins early in the course of the disease.  last updated: 6/13/2011

MalaCards based summary: Eales Disease, also known as idiopathic recurrent vitreal hemorrhage, is related to hypothyroidism and chorioretinitis. An important gene associated with Eales Disease is SOD1 (Superoxide Dismutase 1, Soluble), and among its related pathways are IL-15 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types and OX40 Pathway. Affiliated tissues include retina, eye and endothelial, and related mouse phenotypes are craniofacial and muscle.

Wikipedia:69 Eales disease is a type of obliterative vasculopathy, also known as angiopathia retinae juvenilis,... more...

Related Diseases for Eales Disease

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

(show top 50)    (show all 326)
idRelated DiseaseScoreTop Affiliating Genes
1hypothyroidism29.7IL1B, IL6, TNF
2chorioretinitis29.3IL6, TNF, VEGFA
3irvan syndrome11.8
4piepkorn karp hickok syndrome10.8IL10, TNF
5multiple system atrophy with orthostatic hypotension10.7CP, SOD1
6autoimmune pancreatitis10.7IFNG, TNF
7myoclonus epilepsy10.7IFNG, IL4
8multiple carboxylase deficiency, propionic acidemia10.7IL10, TNF
9granulomatous hypophysitis10.6CP, TNF
10fallopian tube endometriosis10.6IL10, TNF
11primary systemic mycosis10.6IFNG, TNF
12motor peripheral neuropathy10.6IFNG, IL4
13nut allergy10.6IFNG, IL4
14graft-versus-host disease, protection against10.6IFNG, IL10, TNF
15addison's disease10.6IFNG, IL10, TNF
16uveoparotid fever10.6SERPINF1, TNF
17hernia of ovary and fallopian tube10.6IFNG, IL10, TNF
18sensorineural hearing loss10.6IFNG, IL10, TNF
19psychologic dyspareunia10.6IFNG, IL10, TNF
20potter's syndrome10.6IFNG, RBP3, TNF
21hypospadias10.6IFNG, IL10, TNF
22subendocardial infarction acute myocardial infarction10.5IFNG, IL10, TNF
23epididymo-orchitis10.5IL10, IL4
24bartter disease10.5IFNG, IL10, TNF
25eye accommodation disease10.5IFNG, IL10, IL4
26gonococcal synovitis10.5IFNG, IL4, TNF
276q terminal deletion syndrome10.5IL10, IL4, TNF
28thelaziasis10.5IFNG, IL10, IL4
29vitamin metabolic disorder10.5CP, SOD1
30aortic arch interruption10.5IL6, TNF
31buruli ulcer10.5IFNG, IL10, IL4
32basidiobolomycosis10.5IL10, IL4, TNF
33paralytic lagophthalmos10.5IL10, IL4, TNF
34atrichia with papular lesions10.5IFNG, IL4, TNF
35malignant histiocytosis10.5IFNG, IL4, TNF
36autoimmune thyroid disease 410.5IFNG, IL10, TNF
37neurotic excoriation10.5IL10, IL4, TNF
38peripheral t-cell lymphoma10.5IL10, IL4, TNF
39alkhurma hemorrhagic fever10.5IL10, IL4, TNF
40peanut allergy10.5IL10, IL4, TNF
41predominantly cortical thymoma10.5IL10, IL6
42thyroid malformation10.5IL1B, TNF
43tetanus neonatorum10.5IFNG, IL10, IL4
44hepatitis b10.4IFNG, IL10, TNF
45exophthalmos10.4IFNG, IL4, TNF
46progressive relapsing multiple sclerosis10.4IFNG, IL10, IL4
47seborrheic dermatitis10.4IFNG, IL4, TNF
48geotrichosis10.4IL10, IL4, TNF
49multiple system atrophy, cerebellar type10.4CP, IFNG, IL4
50metagonimiasis10.4IL10, IL4, TNF

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



Diseases related to eales disease

Symptoms for Eales Disease

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Drugs & Therapeutics for Eales Disease

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
RanibizumabPhase 2, Phase 3469347396-82-1459903
Synonyms:
347396-82-1
D05697
Lucentis
Lucentis (TN)
 
Ranibizumab
Ranibizumab (USAN/INN)
Ranibizumab (genetical recombination)
Ranibizumab (genetical recombination) (JAN)
ranibizumab
rhuFab V2

Interventional clinical trials:

idNameStatusNCT IDPhase
1Lucentis (Ranibizumab) for Eales' DiseaseCompletedNCT00384449Phase 2, Phase 3
2Evaluation of the Performance of Two Contact Lenses Compared to a Marketed LensCompletedNCT01484028

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Genetic Tests for Eales Disease

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Anatomical Context for Eales Disease

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MalaCards organs/tissues related to Eales Disease:

34
Retina, Eye, Endothelial, Thyroid, Monocytes

Animal Models for Eales Disease or affiliated genes

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MGI Mouse Phenotypes related to Eales Disease:

39 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.5IFNG, IL10, IL4, NOS2, TNF, VEGFA
2MP:00053698.0IFNG, IL10, IL6, NOS2, SOD1, TNF
3MP:00053887.8IFNG, IL10, IL4, IL6, NOS2, TNF
4MP:00053707.4CP, IFNG, IL10, IL4, IL6, NOS2
5MP:00053817.3IFNG, IL10, IL4, IL6, NOS2, SERPINF1
6MP:00020067.3IFNG, IL10, IL1B, IL6, NOS2, SOD1
7MP:00053847.3CP, IFNG, IL10, IL4, IL6, NOS2
8MP:00053897.2IFNG, IL10, IL4, IL6, NOS2, SERPINF1
9MP:00107717.1IFNG, IL10, IL1B, IL4, IL6, NOS2
10MP:00053796.8IFNG, IL10, IL4, IL6, NOS2, SERPINF1
11MP:00107686.4IFNG, IL10, IL1B, IL4, IL6, NOS2
12MP:00053856.3CP, IFNG, IL10, IL1B, IL6, NOS2
13MP:00053876.3CP, IFNG, IL10, IL1B, IL4, IL6
14MP:00053906.2IFNG, IL10, IL1B, IL4, IL6, NOS2
15MP:00053975.9CP, IFNG, IL10, IL1B, IL4, IL6
16MP:00053915.6CP, IFNG, IL10, IL4, IL6, NOS2
17MP:00036315.2CP, IFNG, IL10, IL1B, IL4, IL6
18MP:00053765.1CP, IFNG, IL10, IL1B, IL4, IL6

Publications for Eales Disease

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Articles related to Eales Disease:

(show top 50)    (show all 63)
idTitleAuthorsYear
1
Steroid-responsive painful ophthalmoplegia: Tolosa-Hunt syndrome, Eales disease, or both? (26842710)
2016
2
Localization of Human Copper Transporter 1 in the Eye and its Role in Eales Disease. (26807780)
2016
3
Ultra-wide field angiography in the management of Eales disease. (27609162)
2016
4
Association of Mycobacterium tuberculosis in the causation of Eales' disease: an institutional experience. (25657155)
2015
5
Eales disease: no typical clinical presentation. (25374641)
2014
6
Surgical outcomes of minimally invasive vitrectomy surgery in Eales' disease. (24172552)
2013
7
Increased homocysteine, homocysteine-thiolactone, protein homocysteinylation and oxidative stress in the circulation of patients with Eales' disease. (23761385)
2013
8
Eales' disease with neurological complications. (24005742)
2013
9
Combination of intravitreal bevacizumab and peripheral photocoagulation: an alternative treatment in eales disease. (24600639)
2013
10
Eales' disease - current concepts in diagnosis and management. (23514227)
2013
11
The use of a vascular endothelial growth factor inhibitor (ranibizumab) in macular edema due to eales disease. (25390730)
2012
12
Secondary rhegmatogenous retinal detachment following intravitreal bevacizumab in patients with vitreous hemorrhage or tractional retinal detachment secondary to Eales' disease. (22169980)
2012
13
Quantitative polymerase chain reaction for Mycobacterium tuberculosis in so-called Eales' disease. (22486260)
2012
14
Vitreopapillary and vitreomacular traction in proliferative Eales' disease. (23109416)
2012
15
Eales disease associated with serpiginous choroiditis. (23143459)
2012
16
Case report: ampiginous chorioretinopathy associated with eales disease in a patient with presumed tuberculosis. (25390176)
2011
17
Elevated tumor necrosis factor in serum is associated with increased retinal ischemia in proliferative eales' disease. (21849807)
2011
18
Association of interferon-gamma, interleukin-10, and tumor necrosis factor-alpha gene polymorphisms with occurrence and severity of Eales' disease. (20720222)
2011
19
Assessment of gelatinase and tumor necrosis factor-I+ level in the vitreous and serum of patients with Eales disease: role of inflammation-mediated angiogenesis in the pathogenesis of Eales disease. (21394064)
2011
20
Role of intravitreal bevacizumab in Eales disease with dense vitreous hemorrhage: a prospective randomized control study. (21301382)
2011
21
Serum interferon-gamma/interleukin-4 imbalance in patients with Eales' disease. (20533927)
2010
22
Proinflammatory cytokines and angiogenic and antiangiogenic factors in vitreous of patients with proliferative diabetic retinopathy and Eales' disease (ED). (18936719)
2009
23
Spontaneous relief of vitreomacular traction and regression of neovascularization in eales disease after intravitreal injection of bevacizumab. (25391054)
2009
24
Proinflammatory cytokines and angiogenic and anti-angiogenic factors in vitreous of patients with proliferative diabetic retinopathy and eales' disease. (18536597)
2008
25
Intravitreal injection of bevacizumab in Eales disease. (18379947)
2008
26
Eales' disease: oxidant stress and weak antioxidant defence. (17322597)
2007
27
Rapid regression of disc and retinal neovascularization in a case of Eales disease after intravitreal bevacizumab. (17392871)
2007
28
Increase in Fe3+/Fe2+ ratio and iron-induced oxidative stress in Eales disease and presence of ferrous iron in circulating transferrin. (17852192)
2007
29
Respiratory disease in the ophthalmology department. Diagnosis: retinal vasculitis associated with tuberculoprotein hypersensitivity (Eales' disease). (17536031)
2007
30
Intravitreal steroids may facilitate treatment of Eales' disease (idiopathic retinal vasculitis): an interventional case series. (16980931)
2007
31
Association of retinal vasculitis (Eales' disease) and Meniere-like vestibulocochlear symptoms. (16133465)
2006
32
Intravitreal triamcinolone acetonide in Eales disease. (16467685)
2006
33
Determination of carbonyl group content in plasma proteins as a useful marker to assess impairment in antioxidant defense in patients with Eales' disease. (15283219)
2004
34
Iron chelation abrogates excessive formation of hydroxyl radicals and lipid peroxidation products in monocytes of patients with Eales' disease: direct evidence using electron spin resonance spectroscopy. (15512947)
2004
35
Accumulation of 8-hydroxydeoxyguanosine and its relationship with antioxidant parameters in patients with Eales' disease: implications for antioxidant therapy. (14632162)
2003
36
Osseous metaplasia in an epiretinal membrane in eales disease. (12441733)
2002
37
Eales disease--an update. (12052408)
2002
38
Mycobacterium tuberculosis infection complicated by Eales disease with peripheral neuropathy. (12355398)
2002
39
Usefulness of laser photocoagulation in managing asymptomatic eyes of Eales disease. (12688097)
2002
40
Cellular immune response to retinal S-antigen and interphotoreceptor retinoid-binding protein fragments in Eales' disease patients. (9873227)
1999
41
Eales' disease: increased oxidation and peroxidation products of membrane constituents chiefly lipids and decreased antioxidant enzymes and reduced glutathione in vitreous. (10487964)
1999
42
Long term visual results of vitrectomy for Eales disease complications. (10090452)
1998
43
Peripheral retinal neovascularization (Eales disease) associated with the factor V Leiden mutation. (9683168)
1998
44
Vitrectomy for complicated Eales disease. (11189322)
1997
45
Chronic encephalitis and Eales disease. (8326335)
1993
46
Visualization of retinal vasculitis in Eales' disease. (22827191)
1993
47
Eales disease with internuclear ophthalmoplegia. (1514745)
1992
48
Serum alpha-1 acid glycoprotein levels in patients with idiopathic peripheral retinal vasculitis (Eales' disease). (1414297)
1992
49
Unusual association of Eales disease with multifocal neurological deficit. (6530368)
1984
50
Missing evidence for HLA antigen association with Eales' disease, chorioretinitis, central serous retinopathy, and malignant choroidal melanoma. (700971)
1978

Variations for Eales Disease

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Expression for genes affiliated with Eales Disease

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Search GEO for disease gene expression data for Eales Disease.

Pathways for genes affiliated with Eales Disease

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

(show top 50)    (show all 58)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.7IFNG, IL10, TNF
29.6IFNG, IL10, IL4
39.6IFNG, IL10, IL4
4
Show member pathways
9.5CP, NOS2, SOD1
59.2IFNG, IL6, NOS2
69.1IFNG, IL1B, NOS2
79.1IL1B, IL6, SOD1
89.1IL1B, IL6, TNF
9
Show member pathways
9.0IFNG, IL10, IL4, IL6
109.0IFNG, IL6, NOS2, TNF
119.0IL1B, IL4, IL6
128.9IFNG, IL1B, NOS2, TNF
138.8IFNG, IL1B, IL6, TNF
148.8IL10, IL1B, IL6, TNF
158.8IFNG, IL10, IL4, IL6, TNF
16
Show member pathways
8.8IFNG, IL1B, IL4, NOS2
17
Show member pathways
8.7IFNG, IL1B, IL4, IL6
188.7IL1B, IL4, IL6, TNF
198.7IFNG, IL10, IL1B, IL4, TNF
208.7IFNG, IL10, IL1B, IL4, TNF
21
Show member pathways
8.6IFNG, IL1B, IL6, NOS2
228.6IL10, IL4, IL6, NOS2, TNF
23
Show member pathways
8.6IFNG, IL1B, IL6, SOD1, TNF
248.5CP, NOS2, TF, VEGFA
258.5IFNG, IL10, IL1B, IL6, TNF
268.5IFNG, IL10, IL1B, IL6, TNF
27
Show member pathways
8.5IFNG, IL10, IL1B, IL6, TNF
288.5IFNG, IL10, IL1B, IL6, TNF
29
Show member pathways
8.4IFNG, IL1B, IL4, IL6, TNF
30
Show member pathways
8.4IFNG, IL10, IL1B, IL4, IL6
318.4IL10, IL1B, IL4, IL6, TNF
32
Show member pathways
8.4IFNG, IL1B, IL6, NOS2, TNF
338.3IL10, IL1B, IL6, NOS2, TNF
348.2IL1B, IL6, TNF, VEGFA
35
Show member pathways
8.2IFNG, IL10, IL1B, IL4, NOS2, TNF
368.2IFNG, IL6, NOS2, TNF, VEGFA
37
Show member pathways
8.2IFNG, IL10, IL1B, IL4, IL6, TNF
38
Show member pathways
8.2IFNG, IL10, IL1B, IL4, IL6, TNF
398.2IFNG, IL10, IL1B, IL4, IL6, TNF
40
Show member pathways
8.2IFNG, IL10, IL1B, IL4, IL6, TNF
418.1IFNG, IL6, NOS2, TF, VEGFA
428.1IFNG, IL10, IL1B, IL6, NOS2, TNF
43
Show member pathways
8.1IFNG, IL10, IL1B, IL6, NOS2, TNF
44
Show member pathways
8.1IFNG, IL10, IL1B, IL6, NOS2, TNF
458.1IFNG, IL10, IL1B, IL6, NOS2, TNF
468.0IFNG, IL1B, IL6, TNF, VEGFA
478.0IFNG, IL1B, IL4, IL6, NOS2, TNF
48
Show member pathways
8.0IFNG, IL1B, IL4, IL6, NOS2, TNF
497.6IL10, IL1B, IL6, TF, TNF, VEGFA
50
Show member pathways
6.5IFNG, IL10, IL1B, IL4, IL6, NOS2

GO Terms for genes affiliated with Eales Disease

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

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00098979.4IFNG, IL4, IL6, TNF
2secretory granuleGO:00301419.3IL1B, SOD1, VEGFA
3extracellular regionGO:00055766.1CP, IFNG, IL1B, IL6, RBP3, SERPINF1
4extracellular spaceGO:00056155.7CP, IFNG, IL10, IL1B, IL4, IL6

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

(show top 50)    (show all 57)
idNameGO IDScoreTop Affiliating Genes
1response to carbon monoxideGO:003446510.7IL10, SOD1
2positive regulation of vitamin D biosynthetic processGO:006055710.7IFNG, TNF
3receptor biosynthetic processGO:003280010.6IL10, TNF
4negative regulation of cytokine secretion involved in immune responseGO:000274010.6IL10, TNF
5regulation of isotype switchingGO:004519110.5IL10, IL4
6positive regulation of mononuclear cell migrationGO:007167710.5IL4, TNF
7positive regulation of killing of cells of other organismGO:005171210.5IFNG, NOS2
8type 2 immune responseGO:004209210.5IL10, IL4
9positive regulation of isotype switching to IgG isotypesGO:004830410.5IFNG, IL4
10negative regulation of nitric oxide biosynthetic processGO:004501910.5IL10, IL4
11neutrophil apoptotic processGO:000178110.5IFNG, IL6
12epithelial cell proliferation involved in salivary gland morphogenesisGO:006066410.4IL6, TNF
13myeloid cell homeostasisGO:000226210.4IL6, SOD1
14positive regulation of interleukin-6 biosynthetic processGO:004541010.3IFNG, IL1B
15sequestering of triglycerideGO:003073010.3IL1B, TNF
16chronic inflammatory response to antigenic stimulusGO:000243910.3IL1B, TNF
17regulation of establishment of endothelial barrierGO:190314010.3IL1B, TNF
18negative regulation of lipid storageGO:001088810.3IL6, TNF
19negative regulation of growth of symbiont in hostGO:004413010.2IFNG, IL10, TNF
20positive regulation of heterotypic cell-cell adhesionGO:003411610.2IL1B, TNF
21positive regulation of fever generationGO:003162210.2IL1B, TNF
22positive regulation of MHC class II biosynthetic processGO:004534810.2IFNG, IL10, IL4
23cellular iron ion homeostasisGO:000687910.1CP, SOD1, TF
24humoral immune responseGO:000695910.1IFNG, IL6, TNF
25positive regulation of calcidiol 1-monooxygenase activityGO:006055910.0IFNG, IL1B, TNF
26positive regulation of membrane protein ectodomain proteolysisGO:005104410.0IFNG, IL1B, TNF
27response to glucocorticoidGO:005138410.0IL10, IL6, TNF
28defense response to bacteriumGO:00427429.7IFNG, IL10, NOS2, TNF
29positive regulation of cell adhesionGO:00457859.7IFNG, TNF, VEGFA
30defense response to protozoanGO:00428329.7IFNG, IL10, IL4, IL6
31positive regulation of chemokine biosynthetic processGO:00450809.7IFNG, IL1B, IL4, TNF
32positive regulation of interleukin-6 productionGO:00327559.5IL1B, IL6, TNF
33negative regulation of gene expressionGO:00106299.5IFNG, NOS2, SERPINF1, TNF
34regulation of insulin secretionGO:00507969.5IFNG, IL1B, NOS2, TNF
35response to heatGO:00094089.4IL1B, IL6, SOD1
36positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.3IL4, IL6, VEGFA
37cellular response to lipopolysaccharideGO:00712229.2IFNG, IL10, IL6, NOS2, TNF
38positive regulation of nitric oxide biosynthetic processGO:00454299.2IFNG, IL1B, IL6, TNF
39positive regulation of peptidyl-serine phosphorylationGO:00331389.2IL6, TNF, VEGFA
40positive regulation of T cell proliferationGO:00421029.1IFNG, IL1B, IL4, IL6
41response to lipopolysaccharideGO:00324969.0IL10, IL1B, IL6, NOS2
42positive regulation of protein phosphorylationGO:00019348.9IL1B, IL4, TNF, VEGFA
43positive regulation of sequence-specific DNA binding transcription factor activityGO:00510918.9IL10, IL1B, IL4, IL6, TNF
44positive regulation of apoptotic processGO:00430658.9IFNG, IL1B, IL6, SOD1, TNF
45response to drugGO:00424938.5IFNG, IL10, IL4, IL6, SOD1
46positive regulation of transcription, DNA-templatedGO:00458938.5IFNG, IL10, IL1B, IL4, IL6, TNF
47agingGO:00075688.4CP, IL10, IL1B, IL6, SERPINF1, SOD1
48negative regulation of apoptotic processGO:00430668.3IL10, IL4, IL6, SOD1, VEGFA
49positive regulation of gene expressionGO:00106288.2IFNG, IL1B, IL6, TNF, VEGFA
50positive regulation of transcription from RNA polymerase II promoterGO:00459447.3IFNG, IL10, IL1B, IL4, IL6, TNF

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

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:00080838.5IL10, IL4, IL6, VEGFA
2cytokine activityGO:00051257.0IFNG, IL10, IL1B, IL4, IL6, TNF

Sources for Eales Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet