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MCID: CHR078

Chorioretinitis malady
20 genes, 1 tissue, 737 related diseases, clinical trials.

Summaries for Chorioretinitis

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59Wikipedia, 29MalaCards
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Wikipedia:59 Chorioretinitis is an inflammation of the choroid (thin pigmented vascular coat of the eye) and retina... more...

MalaCards: Chorioretinitis, also known as other and unspecified forms of chorioretinitis and retinochoroiditis, is related to retinitis and retinal degeneration. An important gene associated with Chorioretinitis is TEAD1 (TEA domain family member 1 (SV40 transcriptional enhancer factor)), and among its related pathways are Formation of collagen fibres and Cell adhesion_ECM remodeling. The compounds diethylnitrosamine and glycosaminoglycan have been mentioned in the context of this disorder. Affiliated tissues include retina and retina, and related mouse phenotypes are cardiovascular system and vision/eye.

Aliases & Classifications for Chorioretinitis

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8Disease Ontology, 39NIH Rare Diseases, 10DISEASES, 41Novoseek, 56UMLS, 31MeSH, 25ICD9CM, 52SNOMED-CT
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Aliases & Descriptions:

chorioretinitis 8 39 10 41 56
other and unspecified forms of chorioretinitis and retinochoroiditis 8
other chorioretinitis and retinochoroiditis 8
retinochoroiditis nos disorder 8
retinitis and chorioretinitis 8
chorioretinitis, unspecified 8
other chorioretinitis 8
retinochoroiditis 8
retinitis 56



External Ids:

Disease Ontology8 DOID:8886
ICD9CM25 363.20

Related Diseases for Chorioretinitis

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16GeneCards, 17GeneDecks
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Diseases related to chorioretinitis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 737)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis41.9SAG
2retinal degeneration34.9ROM1, RBP3, SERPINF1, CRB1, C1QTNF5, CHM
3retinal detachment33.3SERPINF1, COL2A1, COL11A1
4retinal disease33.2ROM1, SAG, SERPINF1, RBP3, CRB1, CHM
5diabetic retinopathy32.6SAG, SERPINF1
6uveitis32.2SAG, RBP3, SERPINF1
7rhyns syndrome31.7SERPINF1, RBP3, ROM1, CRB1, CHM, SAG
8blindness30.7SERPINF1, CRB1, CHM, COL2A1
9chorioretinal scar30.2JMJD6
10night blindness29.8SAG
11proliferative diabetic retinopathy29.5SERPINF1
12eales disease28.7SAG
13stickler syndrome27.0COL2A1, COL11A1
14cataract26.6COL11A1, SERPINF1
15parkinson's disease26.5CHM
16marshall syndrome25.8COL11A1
17medulloblastoma25.4SAG, IGF2, VCAN
18vitreoretinal dystrophy13.5COL11A1
19vitreous syneresis13.3COL2A1, COL11A1
20myopia 613.3COL2A1, COL11A1, SERPINF1
21embryonal cancer13.3TGFA, IGF2
22gonococcal synovitis12.4COL2A1, SERPINF1, VCAN, RBP3, CX3CL1, SAG
23retinitis pigmentosa12.3
24endotheliitis10.3
25retinal vein occlusion10.1
26neuronitis9.3
27central retinal vein occlusion9.0
28macular degeneration8.4
29age related macular degeneration8.3
30leber congenital amaurosis8.1
31hypoxia8.1
32retinal artery occlusion8.1
33usher syndrome8.0
34progressive bifocal chorioretinal atrophy8.0
35retinochoroidal coloboma8.0
36retinal vasculitis7.9
37retinal vascular occlusion7.9
38ischemia7.9
39retinal ischemia7.8
40neuropathy ataxia retinitis pigmentosa syndrome7.6
41stargardt disease7.6
42proliferative vitreoretinopathy7.5
43retinoblastoma7.5
44disseminated chorioretinitis7.5
45vasculitis7.4
46cytomegalovirus retinitis7.4
47retinitis pigmentosa 317.4
48cone-rod dystrophy7.4
49aicardi syndrome7.3
50branch retinal artery occlusion7.3

Graphical network of the top 20 diseases related to chorioretinitis:



Diseases related to chorioretinitis

Symptoms for Chorioretinitis

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Drugs & Therapeutics for Chorioretinitis

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5CenterWatch, 38NIH Clinical Center, 6ClinicalTrials, 56UMLS, 37NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Chorioretinitis

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Anatomical Context for Chorioretinitis

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29MalaCards
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MalaCards organs/tissues related to chorioretinitis:

29
Retina

Animal Models for Chorioretinitis or affiliated genes

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33MGI, 26inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to chorioretinitis:

33
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1
cardiovascular system phenotype
MP:00053858.7ROM1, TEAD1, SERPINF1, CX3CL1, HCCS, IGF2
2
vision/eye phenotype
MP:00053918.3RBP3, TGFA, ROM1, SAG, SERPINF1, CRB1
3
nervous system phenotype
MP:00036317.7CLDN19, RBP3, ROM1, SAG, VCAN, TEAD1

Publications for Chorioretinitis

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47PubMed
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Articles related to chorioretinitis:

(show all 12)
idTitleAuthorsYearAffiliating Genes
1Run-on mutation in the PAX6 gene and chorioretinal de generation in autosomal dominant aniridia. (21633710)Aggarwal S.... Phadke S.R.2011PAX6
2Low levels of pigment epithelium-derived factor in highly myopic eyes with chorioretinal atrophy. (16310484)Ogata N.... Matsumura M.2005SERPINF1
3Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene. (15623792)McKay G.J.... Silvestri G.2005CRB1
4A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration). (15016762)Fossdal R.... Stefansson K.2004TEAD1
5A novel syndrome of congenital lid and punctal anomalies, corneal and chorioretinal dystrophy. (12789575)Lee T.K.... MacDonald I.M.2003FOXC1
6Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene. (12511349)Vu C.D.... Edwards A.O.2003COL2A1, COL11A1
7Expression of metallothionein isoforms in human chorioretinal complex. (12187490)Tate D.J.... Newsome D.A.2002MT2A, MT3
8Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1). (9719369)Gehrig A.... Weber B.H.1998IMPG1, PBCRA1
9Mapping the locus of atrophia areata, a helicoid peripapillary chorioretinal degeneration with autosomal dominant inheritance, to chromosome 11p15. (7795606)Fossdal R.... Jensson O.1995TEAD1
10Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q. (8541856)Kelsell R.E.... Hunt D.M.1995PBCRA1
11Mechanism of axial elongation and chorioretinal atrophy in high myopia (7832067)Tokoro T.1994IGF2, TGFA
12Molecular cloning of the genes in genetic chorioretinal diseases--positional cloning and the candidate gene approach (8285146)Mashima Y.... Oguchi Y.1993OAT, RHO, ROM1

Variations for Chorioretinitis

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Expression for genes affiliated with Chorioretinitis

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Chorioretinitis

Pathways for genes affiliated with Chorioretinitis

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50Reactome, 54Thomson Reuters, 12EMD Millipore, 48QIAGEN
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Pathways related to chorioretinitis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Formation of collagen fibres50
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10.2COL2A1, COL11A1
2
Cell adhesion_ECM remodeling54
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10.0COL2A1, IGF2, VCAN
3
Integrin Pathway48
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9.6CX3CL1, IMPG1, COL11A1, COL2A1, CLDN19
4
PTEN Pathway48
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9.5TGFA, IGF2, IMPG1, COL11A1, COL2A1
5
Rho Family GTPases48
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9.2COL2A1, COL11A1, IMPG1, IGF2, CX3CL1, TEAD1

Compounds for genes affiliated with Chorioretinitis

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41Novoseek, 11DrugBank, 22HMDB
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Compounds related to chorioretinitis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1diethylnitrosamine4110.1IGF2, TGFA
2glycosaminoglycan419.9VCAN, SERPINF1, IGF2, COL2A1
3heparin41 11 2211.5TGFA, SAG, VCAN, SERPINF1, IGF2
4ascorbic acid41 2210.4COL2A1, IGF2, MT3, TGFA
5glutamate419.3TGFA, SAG, SERPINF1, CX3CL1, MT3, IGF2
6cysteine419.1COL2A1, TGFA, ROM1, SERPINF1, CX3CL1, MT3

GO Terms for genes affiliated with Chorioretinitis

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15Gene Ontology
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Cellular components related to chorioretinitis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055769.3SERPINF1, CRB1, CX3CL1, IGF2, COL11A1, COL2A1
2extracellular spaceGO:0056159.1COL2A1, IGF2, CX3CL1, SERPINF1, VCAN, TGFA

Biological processes related to chorioretinitis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:00602910.2COL2A1, COL11A1
2visual perceptionGO:0076018.8CLDN19, RBP3, ROM1, SAG, IMPG1, CHM

Products for genes affiliated with Chorioretinitis

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Sources for Chorioretinitis

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3CDC
13ExPASy
14FMA
21HGMD
22HMDB
23ICD10
24ICD10 via Orphanet
25ICD9CM
27KEGG
31MeSH
32MESH via Orphanet
33MGI
36NCIt
37NDF-RT
40NINDS
41Novoseek
43OMIM
44OMIM via Orphanet
47PubMed
48QIAGEN
53SNOMED-CT via Orphanet
56UMLS
57UMLS via Orphanet
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