MCID: SYM002
MIFTS: 54

Sympathetic Ophthalmia malady

Eye diseases, Rare diseases, Immune diseases categories
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Summaries for Sympathetic Ophthalmia

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65Wikipedia, 33MalaCards
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Wikipedia:65 Sympathetic ophthalmia (SO) is a bilateral diffuse granulomatous uveitis (a kind of inflammation) of... more...

MalaCards: Sympathetic Ophthalmia, also known as sympathetic uveitis, is related to melanoma and behcet's disease. An important gene associated with Sympathetic Ophthalmia is CRYAA (crystallin, alpha A), and among its related pathways are 14-3-3 and Regulation of BAD Activity and Canonical NF-kappaB pathway. The compounds dpa 1 and cdp571 have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Aliases & Classifications for Sympathetic Ophthalmia

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8Disease Ontology, 49Orphanet, 62UMLS, 27ICD9CM, 35MeSH, 58SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Eye diseases, Immune diseases
Orphanet: 49 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

49
sympathetic ophthalmia:
Inheritance: Sporadic; Prevalence: 1-9/1000000; Age of onset: Variable


Aliases & Descriptions:

sympathetic ophthalmia 8 49
sympathetic uveitis 8 49
ophthalmia, sympathetic 62


External Ids:

Disease Ontology8 DOID:12029
ICD9CM27 360.11
MeSH35 D009879
MESH via Orphanet36 D009879
SNOMED-CT58 75315001
ICD10 via Orphanet26 H44.1
SNOMED-CT via Orphanet59 75315001
UMLS via Orphanet63 C0029077

Related Diseases for Sympathetic Ophthalmia

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17GeneCards, 18GeneDecks
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Diseases related to Sympathetic Ophthalmia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 95)
idRelated DiseaseScoreTop Affiliating Genes
1melanoma30.6HLA-C, TNF, HLA-DRB1, IL10, TYRP1
2behcet's disease30.3LTA, HLA-C, TNF
3sarcoidosis30.1HLA-C, HLA-DRB1, TNF, LTA, CCL2
4uveitis30.0TNF, LTA, IL10, CCL2, HLA-C, TNFRSF1A
5choroiditis10.7
6retinitis10.7
7endophthalmitis10.6
8cataract10.6
9glaucoma10.6
10retinal detachment10.6
11vogt-koyanagi-harada disease10.5
12blindness10.4
13neovascular glaucoma10.3
14keratitis10.3
15panophthalmitis10.2
16diphtheria10.2
17cerebritis10.2
18conjunctival pigmentation10.2
19alopecia10.2
20chorioretinitis10.2
21hypopyon10.2
22purulent endophthalmitis10.2
23turner syndrome10.2
24vasculitis10.2
25acanthamoeba keratitis10.2
26leprosy10.1HLA-DRB1
27blau syndrome10.1TNF
28periapical granuloma10.1CCL2
29periodic fever, familial, autosomal dominant10.1TNFRSF1A, TNF
30psoriatic arthritis10.1HLA-C, TNF
31skin disease10.1HLA-DRB1
32familial mediterranean fever10.1TNFRSF1A, TNF
33arthritis10.0TNFRSF1A, TNF
34toxic shock syndrome10.0TNF, LTA
35extrinsic allergic alveolitis10.0TNFRSF1A, CCL2
36abdominal aortic aneurysm10.0CCL2, TNFRSF1A
37microphthalmia10.0TYRP1, CRYAA
38adult respiratory distress syndrome10.0LTA, TNF
39alcoholic hepatitis10.0CCL2, TNF
40interstitial lung disease10.0TNF, CCL2
41selective iga deficiency disease10.0IL10, LTA
42leishmaniasis10.0TNFRSF1A, IL10
43lepromatous leprosy10.0LTA, IL10
44ankylosing spondylitis10.0TNFRSF1A, TNF
45visceral leishmaniasis10.0LTA, IL10
46thyroiditis10.0HLA-C, HLA-DRB1
47paracoccidioidomycosis10.0IL10, TNFRSF1A
48pulmonary sarcoidosis10.0TNF, LTA, CCL2
49common variable immune deficiency10.0IL10, TNFRSF1A
50viral hepatitis10.0HLA-DRB1, TNFRSF1A, HLA-DQA1

Graphical network of the top 20 diseases related to Sympathetic Ophthalmia:



Diseases related to sympathetic ophthalmia

Symptoms for Sympathetic Ophthalmia

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Drugs & Therapeutics for Sympathetic Ophthalmia

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Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Sympathetic Ophthalmia

Search NIH Clinical Center for Sympathetic Ophthalmia

Genetic Tests for Sympathetic Ophthalmia

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Anatomical Context for Sympathetic Ophthalmia

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33MalaCards
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MalaCards organs/tissues related to Sympathetic Ophthalmia:

33
Eye, Retina

Animal Models for Sympathetic Ophthalmia or affiliated genes

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37MGI
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Publications for Sympathetic Ophthalmia

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Sources:
52PubMed
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Articles related to Sympathetic Ophthalmia:

(show top 50)    (show all 294)
idTitleAuthorsYear
1
Reversible retinal changes in the acute stage of sympathetic ophthalmia seen on spectral domain optical coherence tomography. (21331811)
2011
2
Sympathetic ophthalmia: enucleation or evisceration? (21876595)
2011
3
A case of sympathetic ophthalmia presenting with extraocular symptoms and conjunctival pigmentation after repeated 23-gauge vitrectomy. (20662657)
2010
4
Sympathetic ophthalmia following postoperative endophthalmitis and evisceration. (20596271)
2010
5
Periocular injections of triamcinolone for sympathetic ophthalmia. (20572826)
2010
6
Development of sympathetic ophthalmia following globe injury. (20137482)
2009
7
Subretinal hypopyon in sympathetic ophthalmia. (19412871)
2009
8
Intravitreal steroid slow-release device replacing repeated intravitreal triamcinolone injections for sympathetic ophthalmia. (18850570)
2008
9
Sympathetic ophthalmia in Singapore: new trends in an old disease. (16028023)
2006
10
Sympathetic ophthalmia following postoperative bacterial endophthalmitis: a clinicopathologic study. (16490496)
2006
11
Bilateral exudative retinal detachments as initial presentation of sympathetic ophthalmia in Turner syndrome. (16883368)
2006
12
Repeated intravitreal triamcinolone acetonide for chronic sympathetic ophthalmia. (16704716)
2006
13
Intravitreal triamcinolone acetonide in sympathetic ophthalmia. (15756580)
2005
14
Immunopathology of progressive subretinal fibrosis: a variant of sympathetic ophthalmia. (15364234)
2004
15
Sympathetic ophthalmia associated with ocular and cerebral vasculitis: an angiographic and radiologic study. (12948320)
2003
16
Incidence of sympathetic ophthalmia after penetrating eye injury and choice of treatment. (12789598)
2002
17
Sympathetic ophthalmia after three pars plana vitrectomies without prior ocular injury. (10950423)
2000
18
Sympathetic ophthalmia associated with antecedent adherent leucoma--a rare association. (9686861)
1998
19
Immunogenetic study of sympathetic ophthalmia. (9062965)
1997
20
Chlorambucil therapy in sympathetic ophthalmia. (7709973)
1995
21
Sympathetic ophthalmia. (10155637)
1994
22
Successfully treated sympathetic ophthalmia with typical histological confirmation. (8485440)
1993
23
Sympathetic ophthalmia after cyclocryotherapy of neovascular glaucoma without ocular penetration. (8446333)
1993
24
Surgical treatment of sympathetic ophthalmia. (1794786)
1991
25
A historical review of sympathetic ophthalmia and its epidemiology. (2678549)
1989
26
Sympathetic ophthalmia following neodymium:YAG cyclotherapy. (2779962)
1989
27
Delayed onset sympathetic ophthalmia. (3670198)
1987
28
Histologic and immunopathologic findings in sympathetic ophthalmia. (3994570)
1985
29
Sympathetic ophthalmia. (6479777)
1984
30
Effect of corticosteroid treatment and enucleation on the visual prognosis of sympathetic ophthalmia. (6614106)
1983
31
Pigmentation associated histopathological variations in sympathetic ophthalmia. (7387955)
1980
32
Recent advances in sympathetic ophthalmia. (396680)
1979
33
Sympathetic ophthalmia. A long-term follow-up. (629672)
1978
34
Sympathetic ophthalmia in Canada. (4274314)
1972
35
Sympathetic ophthalmia after couching operation. (4668490)
1972
36
Lymphocyte-stimulating activity of ocular tissues in sympathetic ophthalmia. (5124018)
1971
37
Observations on sympathetic ophthalmia. (5904961)
1966
38
Sympathetic Ophthalmia: A Case Treated by Prolonged Use of Corticotropin and Adrenal Steroids. (16693596)
1960
39
Sympathetic ophthalmia controlled by continuous cortisone therapy over a four-year period. (13458314)
1957
40
Sympathetic ophthalmia treated with cortisone. (14923790)
1952
41
Sympathizing eye in sympathetic ophthalmia; a pathologic study. (12984910)
1952
42
Sympathetic ophthalmia. (15412255)
1950
43
The important complications of cataract surgery exclusive of sympathetic ophthalmia. (15407741)
1949
44
Malignant melanoma of the choroid with sympathetic ophthalmia. (18132900)
1949
45
Sympathetic ophthalmia or phacoanaphylaxis? (18874349)
1948
46
Case of Sympathetic Ophthalmia. (18736629)
1915
47
NOTE ON THE BLOOD IN SYMPATHETIC OPHTHALMIA. (20765685)
1911
48
SYMPATHETIC OPHTHALMIA. (20757901)
1898
49
Sympathetic Ophthalmia: A Historical Correction. (20747958)
1875
50
Manchester Eye Hospital: Sympathetic Ophthalmia - Complete Loss of Vision-Restoration of Sight by Operative Means. (21373119)
1842

Variations for Sympathetic Ophthalmia

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Expression for genes affiliated with Sympathetic Ophthalmia

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Sympathetic Ophthalmia

Search GEO for disease gene expression data for Sympathetic Ophthalmia.

Pathways for genes affiliated with Sympathetic Ophthalmia

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Sources:
50PathCards, 53QIAGEN, 38NCBI BioSystems Database, 60Thomson Reuters, 55Reactome, 30KEGG, 54R&D Systems, 57SinoBiological
See all sources

Pathways related to Sympathetic Ophthalmia according to GeneCards/GeneDecks:

(show top 50)    (show all 52)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1TNFRSF1A
29.5TNFRSF1A, TNF
39.5TNFRSF1A, TNF
4
Show member pathways
9.5TNF, TNFRSF1A
59.5TNFRSF1A, TNF
69.5TNFRSF1A, TNF
7
Show member pathways
9.5HLA-DRB1, HLA-DQA1
89.4TNF, CCL2
99.3LTA, IL10
10
Show member pathways
9.2LTA, TNFRSF1A, TNF
11
Show member pathways
Apoptosis Modulation and Signaling38
Apoptosis38
9.2LTA, TNFRSF1A, TNF
12
Show member pathways
9.2TNF, TNFRSF1A, LTA
13
Show member pathways
9.2LTA, TNFRSF1A, TNF
14
Show member pathways
9.2TNF, TNFRSF1A, LTA
15
Show member pathways
Transcription NF kB signaling pathway60
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response60
9.2LTA, TNFRSF1A, TNF
16
Show member pathways
IL-9 Signaling Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
9.2LTA, TNFRSF1A, TNF
17
Show member pathways
9.2LTA, TNFRSF1A, TNF
189.2TNF, TNFRSF1A, LTA
19
Show member pathways
9.2LTA, TNFRSF1A, TNF
209.1TNF, IL10
219.1TNF, IL10
22
Show member pathways
9.0HLA-C, HLA-DQA1, HLA-DRB1
239.0HLA-C, HLA-DQA1, HLA-DRB1
249.0HLA-DRB1, HLA-DQA1, HLA-C
25
Show member pathways
9.0HLA-DRB1, HLA-DQA1, HLA-C
26
Show member pathways
IL27-mediated signaling events38
8.8LTA, IL10, TNF
278.8TNF, IL10, LTA
28
Show member pathways
8.7IL10, TNFRSF1A, TNF
298.7LTA, CCL2, TNFRSF1A, TNF
30
Show member pathways
Apoptosis and survival TNFR1 signaling pathway60
TWEAK Signaling Pathway38
Apoptosis Modulation by HSP7038
HIV-1 Nef- Negative effector of Fas and TNF-alpha38
8.7LTA, CCL2, TNFRSF1A, TNF
318.7HLA-DQA1, HLA-DRB1, IL10
32
Show member pathways
IL23-mediated signaling events38
Immune response IL 10 signaling pathway60
Angiopoietin receptor Tie2-mediated signaling38
Development PDGF signaling via STATs and NF kB60
Development Angiopoietin Tie2 signaling60
8.6TNF, CCL2, IL10
338.6TNF, CCL2, IL10
34
Show member pathways
8.5HLA-DQA1, HLA-DRB1, TNF, TNFRSF1A
358.5HLA-DRB1, TNF, IL10
368.4HLA-DQA1, HLA-DRB1, TNF, CCL2
37
Show member pathways
8.4HLA-C, HLA-DQA1, TNF, TNFRSF1A, LTA
388.2HLA-C, HLA-DQA1, HLA-DRB1, IL10
39
Show member pathways
Toll-like receptor signaling pathway38
Regulation of toll-like receptor signaling pathway38
8.2IL10, CCL2, TNFRSF1A, TNF
40
Show member pathways
8.1HLA-DQA1, HLA-DRB1, TNF, IL10
41
Show member pathways
7.9TNF, TNFRSF1A, CCL2, IL10, LTA
42
Show member pathways
7.9TNF, TNFRSF1A, CCL2, IL10, LTA
43
Show member pathways
7.9TNF, TNFRSF1A, CCL2, IL10, LTA
44
Show member pathways
7.9TNF, TNFRSF1A, CCL2, IL10, LTA
45
Show member pathways
7.9TNF, TNFRSF1A, CCL2, IL10, LTA
467.7HLA-C, HLA-DQA1, HLA-DRB1, TNF, TNFRSF1A, LTA
47
Show member pathways
7.7IL10, TNFRSF1A, TNF, HLA-DRB1, HLA-DQA1
487.7HLA-DQA1, HLA-DRB1, TNF, TNFRSF1A, IL10
49
Show member pathways
7.2HLA-C, HLA-DQA1, HLA-DRB1, TNF, TNFRSF1A, CCL2
50
Show member pathways
6.9LTA, HLA-C, HLA-DQA1, HLA-DRB1, TNF, TNFRSF1A

Compounds for genes affiliated with Sympathetic Ophthalmia

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Sources:
45Novoseek, 51PharmGKB, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 3BitterDB, 24HMDB
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Compounds related to Sympathetic Ophthalmia according to GeneCards/GeneDecks:

(show top 50)    (show all 95)
idCompoundScoreTop Affiliating Genes
1dpa 1459.7HLA-DRB1, HLA-DQA1
2cdp571459.2TNF, IL10
3cyclosporine51 1110.2LTA, IL10, TNF
4rantes459.2IL10, TNFRSF1A, CCL2
5blys459.1TNF, TNFRSF1A, IL10
6interferon gamma459.1IL10, TNF
7adalimumab45 51 1111.1TNF, TNFRSF1A, IL10
8mycophenolate mofetil45 51 1111.1IL10, LTA, TNF
9herbimycin a45 6110.1TNF, LTA, CCL2, TNFRSF1A
10fmlp459.1TNFRSF1A, LTA, CCL2, TNF
11pentoxifylline45 1110.0TNF, LTA, IL10
12mip 1alpha459.0TNF, CCL2, IL10
13il-12459.0IL10, CCL2, TNF
145 aminosalicylic acid459.0IL10, CCL2, TNF
15polymyxin b459.0TNF, IL10, CCL2
16groalpha459.0CCL2, TNF, IL10
17gm-csf45 2910.0CCL2, TNF, IL10
188-isoprostane458.9IL10, CCL2, TNF
19tarc458.9IL10, CCL2, TNF
20ccl345 299.9TNF, CCL2, IL10
21actinomycin d458.8LTA, TNFRSF1A, CCL2, TNF
22okt3458.8TNF, TNFRSF1A, IL10, LTA
23etanercept45 51 1110.8IL10, TNF, LTA, TNFRSF1A
24infliximab45 51 1110.8TNFRSF1A, TNF, IL10, LTA
25ivig458.8IL10, TNFRSF1A, LTA, TNF
26neopterin458.8TNF, TNFRSF1A, LTA, IL10
27thalidomide45 51 61 1111.8IL10, TNFRSF1A, TNF
2815-deoxy-delta-12,14-prostaglandin j2458.8IL10, CCL2, TNF
29ionomycin458.8TNF, TNFRSF1A, LTA, IL10
30chloroquine45 3 51 29 1112.7TNFRSF1A, IL10, TNF
31calcitriol45 61 24 1111.7TNF, TNFRSF1A, IL10, LTA
32toxin-1458.7TNF, IL10, CCL2, LTA
33lipoteichoic acid458.7TNF, CCL2, IL10, LTA
34il 10458.7LTA, TNF, CCL2, IL10
35simvastatin45 51 61 29 24 1113.6CCL2, TNFRSF1A, TNF, IL10
36prostacyclin458.6TNFRSF1A, TNF, CCL2, IL10
37sb 20358045 619.5TNFRSF1A, CCL2, TNF, IL10
38aspartate458.4IL10, HLA-DQA1, CRYAA, CCL2, TNFRSF1A
39methotrexate51 45 1110.4IL10, HLA-DRB1, TNFRSF1A, TNF
40paraffin458.4TNFRSF1A, HLA-DQA1, LTA, CCL2, IL10
41tgf beta1458.3CCL2, LTA, TNF, IL10, TNFRSF1A
42endotoxin458.3CCL2, TNFRSF1A, TNF, LTA, IL10
43pge2458.3TNF, TNFRSF1A, CCL2, IL10, LTA
44oxygen45 249.3CCL2, TNFRSF1A, TNF, TYRP1, LTA
45serine458.3LTA, TNF, TYRP1, CCL2, TNFRSF1A, CRYAA
46cycloheximide458.2TNF, LTA, IL10, TNFRSF1A, CCL2
47dexamethasone45 51 29 1111.2CCL2, TNFRSF1A, TNF, LTA, IL10
48vegf458.1TNF, TNFRSF1A, CCL2, IL10, LTA
49nitric oxide45 24 1110.1IL10, LTA, TNF, TNFRSF1A, CCL2
50cyclosporin a45 29 6110.1IL10, TNF, LTA, TNFRSF1A

GO Terms for genes affiliated with Sympathetic Ophthalmia

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Sources:
16Gene Ontology
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Cellular components related to Sympathetic Ophthalmia according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1MHC class II protein complexGO:0426139.5HLA-DRB1, HLA-DQA1
2transport vesicle membraneGO:0306589.5HLA-DQA1, HLA-DRB1
3endocytic vesicle membraneGO:0306669.5HLA-DRB1, HLA-DQA1
4clathrin-coated endocytic vesicle membraneGO:0306699.4HLA-DRB1, HLA-DQA1, TYRP1
5trans-Golgi network membraneGO:0325889.4HLA-DRB1, HLA-DQA1
6integral component of lumenal side of endoplasmic reticulum membraneGO:0715569.3HLA-DRB1, HLA-DQA1, HLA-C
7ER to Golgi transport vesicle membraneGO:0125079.2HLA-C, HLA-DQA1, HLA-DRB1
8cell surfaceGO:0099868.8TNFRSF1A, TNF, HLA-C
9Golgi membraneGO:0001398.7TNFRSF1A, HLA-DRB1, HLA-DQA1, HLA-C
10integral component of plasma membraneGO:0058878.2HLA-C, HLA-DQA1, HLA-DRB1, TNF, TNFRSF1A
11extracellular spaceGO:0056158.0LTA, IL10, CCL2, TNFRSF1A, TNF

Biological processes related to Sympathetic Ophthalmia according to GeneCards/GeneDecks:

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of chronic inflammatory response to antigenic stimulusGO:00287610.0LTA, TNF
2positive regulation of humoral immune response mediated by circulating immunoglobulinGO:0029259.9LTA, TNF
3response to amino acidGO:0432009.8CCL2, TNFRSF1A
4positive regulation of synaptic transmissionGO:0508069.7TNF, CCL2
5defense response to Gram-positive bacteriumGO:0508309.7TNF, LTA
6lipopolysaccharide-mediated signaling pathwayGO:0316639.7TNF, CCL2
7extrinsic apoptotic signaling pathway via death domain receptorsGO:0086259.6TNF, TNFRSF1A
8protein kinase B signalingGO:0434919.6CCL2, TNF
9positive regulation of interferon-gamma productionGO:0327299.6LTA, TNF
10cellular response to organic cyclic compoundGO:0714079.6TNF, CCL2
11negative regulation of gene expressionGO:0106299.6CRYAA, TNFRSF1A, TNF
12cellular response to estradiol stimulusGO:0713929.5IL10, TNFRSF1A
13receptor biosynthetic processGO:0328009.5TNF, IL10
14negative regulation of cytokine secretion involved in immune responseGO:0027409.4TNF, IL10
15response to mechanical stimulusGO:0096129.4CCL2, TNF
16humoral immune responseGO:0069599.4LTA, CCL2, TNF
17positive regulation of cytokine secretionGO:0507159.4TNF, IL10
18interferon-gamma-mediated signaling pathwayGO:0603339.4HLA-DRB1, HLA-DQA1, HLA-C
19negative regulation of interferon-gamma productionGO:0326899.3HLA-DRB1, IL10
20intrinsic apoptotic signaling pathway in response to DNA damageGO:0086309.2TNFRSF1A, TNF
21negative regulation of T cell proliferationGO:0421309.2IL10, HLA-DRB1
22negative regulation of growth of symbiont in hostGO:0441309.2TNF, IL10, LTA
23negative regulation of interleukin-6 productionGO:0327159.1IL10, TNFRSF1A, TNF
24response to activityGO:0148239.0TNF, CCL2, IL10
25immune responseGO:0069558.9HLA-C, HLA-DQA1, HLA-DRB1
26response to hypoxiaGO:0016668.8LTA, CRYAA, CCL2, TNFRSF1A, TNF
27response to glucocorticoidGO:0513848.7TNF, CCL2, IL10, CRYAA
28inflammatory responseGO:0069548.5TNF, TNFRSF1A, CCL2, IL10
29cytokine-mediated signaling pathwayGO:0192218.5HLA-C, HLA-DQA1, HLA-DRB1, TNFRSF1A, CCL2
30response to drugGO:0424938.3LTA, CRYAA, IL10, CCL2, TNF

Molecular functions related to Sympathetic Ophthalmia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MHC class II receptor activityGO:0323959.5HLA-DRB1, HLA-DQA1
2tumor necrosis factor receptor bindingGO:0051649.5TNF, LTA
3receptor bindingGO:0051029.2LTA, CCL2, HLA-C
4peptide antigen bindingGO:0426059.1HLA-DRB1, HLA-C
5cytokine activityGO:0051258.8LTA, IL10, TNF

Products for genes affiliated with Sympathetic Ophthalmia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sympathetic Ophthalmia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet