PDR
MCID: PRL007
MIFTS: 53

Proliferative Diabetic Retinopathy (PDR) malady

Eye diseases category

Summaries for Proliferative Diabetic Retinopathy

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34MalaCards
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MalaCards: Proliferative Diabetic Retinopathy, also known as pigmentary disorder, reticulate, with systemic manifestations, is related to diabetic retinopathy and retinal detachment. An important gene associated with Proliferative Diabetic Retinopathy is SERPINF1 (serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1), and among its related pathways are Integrins in angiogenesis and Signaling events mediated by TCPTP. The compounds fluorescein and triamcinolone acetonide have been mentioned in the context of this disorder. Affiliated tissues include endothelial, eye and monocytes, and related mouse phenotypes are digestive/alimentary and vision/eye.

Aliases & Classifications for Proliferative Diabetic Retinopathy

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Sources:
9Disease Ontology, 11DISEASES, 46Novoseek, 63UMLS, 28ICD9CM, 59SNOMED-CT, 41NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases


Aliases & Descriptions:

proliferative diabetic retinopathy 9 11 46 63
pigmentary disorder, reticulate, with systemic manifestations 63
pdr 9


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Disease Ontology9 DOID:13207
ICD9CM28 362.02
SNOMED-CT59 154679002, 59276001
NCIt41 C84457

Related Diseases for Proliferative Diabetic Retinopathy

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Proliferative Diabetic Retinopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 143)
idRelated DiseaseScoreTop Affiliating Genes
1diabetic retinopathy32.1CTGF, VTN, ANGPT2, VCAM1, SERPINF1, VEGFA
2retinal detachment31.3VEGFA, SERPINF1
3proliferative vitreoretinopathy31.2VTN, CCL2, CTGF, HGF
4diabetic macular edema30.9VEGFA, SERPINF1
5macular holes30.8PTGDS, ANGPT2, SERPINF1
6diabetes mellitus30.8VEGFA, VCAM1, ANGPT2, CCL2, VTN, CTGF
7diabetic nephropathy30.6TIMP3, SERPINF1, CCL2, CTGF
8type 2 diabetes mellitus30.6VCAM1, CCL2, CXCL10
9proteinuria30.4VTN, ANGPT2, CCL2, VEGFA, CTGF
10blindness30.3VEGFA, SERPINF1, TIMP3
11uveitis30.3CCL2, SERPINF1, CXCL10
12ischemia30.2VEGFA, HGF, VTN, ANGPT2, CTGF
13coronary artery disease30.2CCL2, VTN, VCAM1
14encephalitis30.1CXCL10, CCL2, VCAM1
15osteoarthritis30.0CXCL10, ANGPT2, CCL2, TIMP3, VCAM1, CTGF
16retinitis11.1
17endotheliitis11.1
18glaucoma10.6
19neovascular glaucoma10.6
20cataract10.4
21hypoxia10.4
22acromegaly10.3
23type 1 diabetes mellitus10.3
24rubeosis iridis10.3
25background diabetic retinopathy10.3
26artery disease10.3
27retinoschisis10.3
28sleep disorder10.3
29eales disease10.3
30paragonimiasis10.2
31x-linked reticulate pigmentary disorder with systemic manifestations10.2
32ischemic retinopathy10.2
33severe nonproliferative diabetic retinopathy10.2
34hemochromatosis10.2
35retinitis pigmentosa10.2
36vitreous detachment10.2
37choroiditis10.2
38retinal ischemia10.2
39maturity-onset diabetes of the young10.2
40carotid stenosis10.2
41carotid artery disease10.2
42hypothyroidism10.2
43leukemia10.2
44optic atrophy10.2
45retinal degeneration10.2
46retinal disease10.2
47cytomegalovirus retinitis10.2
48vitreoretinopathy, neovascular inflammatory10.2
49retinopathy of prematurity10.1VEGFA
50japanese encephalitis10.1

Graphical network of the top 20 diseases related to Proliferative Diabetic Retinopathy:



Diseases related to proliferative diabetic retinopathy

Symptoms for Proliferative Diabetic Retinopathy

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Drugs & Therapeutics for Proliferative Diabetic Retinopathy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Proliferative Diabetic Retinopathy

Drug clinical trials:

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Search NIH Clinical Center for Proliferative Diabetic Retinopathy

Search CenterWatch for Proliferative Diabetic Retinopathy

Genetic Tests for Proliferative Diabetic Retinopathy

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Anatomical Context for Proliferative Diabetic Retinopathy

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34MalaCards
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MalaCards organs/tissues related to Proliferative Diabetic Retinopathy:

34
Endothelial, Eye, Monocytes, Placenta, Retina, T cells, Tongue

Animal Models for Proliferative Diabetic Retinopathy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Proliferative Diabetic Retinopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.5VEGFA, SERPINF1, ANGPT2, CCL2, CTGF
2MP:00053918.1ANGPT2, TIMP3, CCL2, VEGFA, SERPINF1, CTGF
3MP:00107718.0TIMP3, CCL2, VEGFA, CTGF, ANGPT2, PTGDS
4MP:00053847.3TIMP3, CXCL10, CTGF, CCL2, HGF, VEGFA
5MP:00053787.3TIMP3, VCAM1, HGF, CTGF, CCL2, VEGFA
6MP:00053877.0CXCL10, ANGPT2, CCL2, VCAM1, PTGDS, VEGFA
7MP:00053976.7TIMP3, VCAM1, CXCL10, CCL2, VTN, HGF
8MP:00053856.4VCAM1, VEGFA, TIMP3, SERPINF1, CTGF, HGF
9MP:00053766.4CTGF, VTN, CCL2, ANGPT2, CXCL10, VCAM1
10MP:00107686.3VEGFA, PTGDS, TIMP3, VCAM1, CXCL10, ANGPT2

Publications for Proliferative Diabetic Retinopathy

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53PubMed
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Articles related to Proliferative Diabetic Retinopathy:

(show top 50)    (show all 543)
idTitleAuthorsYear
1
Fourier-domain optical coherence tomography evaluation of retinal and optic nerve head neovascularisation in proliferative diabetic retinopathy. (24158844)
2014
2
Differentiating vitreous proteomes in proliferative diabetic retinopathy using high-performance liquid chromatography coupled to tandem mass spectrometry. (23276812)
2013
3
Computer-aided diagnosis of proliferative diabetic retinopathy via modeling of the major temporal arcade in retinal fundus images. (23579735)
2013
4
High vitreous concentration of IL-6 and IL-8, but not of adhesion molecules in relation to plasma concentrations in proliferative diabetic retinopathy. (23257933)
2013
5
Cysteine-rich 61 (CYR61) is up-regulated in proliferative diabetic retinopathy. (22160564)
2012
6
Plasma, aqueous and vitreous homocysteine levels in proliferative diabetic retinopathy. (22353698)
2012
7
Topographical distribution of retinal and optic disc neovascularization in early stages of proliferative diabetic retinopathy. (23169887)
2012
8
Soluble vascular adhesion protein-1 accumulates in proliferative diabetic retinopathy. (22618595)
2012
9
Imbalanced levels of angiogenic and angiostatic factors in vitreous, plasma and postmortem retinal tissue of patients with proliferative diabetic retinopathy. (22699109)
2012
10
Relationship between vitreous and serum vascular endothelial growth factor levels, control of diabetes and microalbuminuria in proliferative diabetic retinopathy. (22331976)
2012
11
Effects of bevacizumab on the neovascular membrane of proliferative diabetic retinopathy: reduction of endothelial cells and expressions of VEGF and HIF-1I+. (22232563)
2012
12
Vitreous vascular endothelial growth factor concentrations in proliferative diabetic retinopathy versus proliferative vitreoretinopathy. (21691136)
2012
13
Electroretinographic findings associated with panretinal photocoagulation (PRP) versus PRP plus intravitreal ranibizumab treatment for high-risk proliferative diabetic retinopathy. (22457045)
2012
14
Surgical and visual outcome following 20-gauge vitrectomy in proliferative diabetic retinopathy over a 10-year period, evidence for change in practice. (22241020)
2012
15
Characterisation of the vitreous proteome in proliferative diabetic retinopathy. (22390717)
2012
16
Intraocular expression of serum amyloid a and interleukin-6 in proliferative diabetic retinopathy. (21704966)
2011
17
Macular edema formation and deterioration of retinal function after intravitreal bevacizumab injection for proliferative diabetic retinopathy. (22125532)
2011
18
Changes in adrenomedullin in patients with proliferative diabetic retinopathy. (21942228)
2011
19
Ophthalmodynamometric pressure in eyes with proliferative diabetic retinopathy measured during pars plana vitrectomy. (21236404)
2011
20
Retro-mode imaging of fibrovascular membrane in proliferative diabetic retinopathy after intravitreal bevacizumab injection. (21760719)
2011
21
Association of homozygous SDF-1 3'A genotype with proliferative diabetic retinopathy. (19381432)
2010
22
Anti-VEGF therapy in proliferative diabetic retinopathy. (19349790)
2009
23
Morphologic changes in the anterior segment after phacovitrectomy for proliferative diabetic retinopathy. (19393886)
2009
24
Panretinal photocoagulation combined with intravitreal bevacizumab in high-risk proliferative diabetic retinopathy. (19262436)
2009
25
Panretinal photocoagulation induces pro-inflammatory cytokines and macular thickening in high-risk proliferative diabetic retinopathy. (19639332)
2009
26
The angio-fibrotic switch of VEGF and CTGF in proliferative diabetic retinopathy. (18628999)
2008
27
Profiling of vitreous proteomes from proliferative diabetic retinopathy and nondiabetic patients. (17955474)
2007
28
Optos Panoramic200A fluorescein angiography for proliferative diabetic retinopathy with asteroid hyalosis. (17564923)
2007
29
Oral sodium fluorescein to improve visualization of clear vitreous during vitrectomy for proliferative diabetic retinopathy. (18173410)
2007
30
Immunoreactive endothelin-1 in the vitreous humor and epiretinal membranes of patients with proliferative diabetic retinopathy. (17290206)
2007
31
Proteomic analysis of human vitreous fluid by fluorescence-based difference gel electrophoresis (DIGE): a new strategy for identifying potential candidates in the pathogenesis of proliferative diabetic retinopathy. (17380318)
2007
32
Erythropoietin as a retinal angiogenic factor in proliferative diabetic retinopathy]. (18051819)
2007
33
Elevated serum levels of N(epsilon)-carboxymethyl-lysine, an advanced glycation end product, are associated with proliferative diabetic retinopathy and macular oedema. (15258735)
2004
34
CD4-CD8 and CD28 expression in T cells infiltrating the vitreous fluid in patients with proliferative diabetic retinopathy: a flow cytometric analysis. (15136323)
2004
35
Proliferative diabetic retinopathy. (15577565)
2004
36
The prognostic value of post-treatment retinopathy after panretinal photocoagulation for proliferative diabetic retinopathy in type 1 diabetes. (15638104)
2004
37
Proliferative diabetic retinopathy is associated with a low level of the natural ocular anti-angiogenic agent pigment epithelium-derived factor (PEDF) in aqueous humor. a pilot study. (12920663)
2003
38
Has the frequency of proliferative diabetic retinopathy declined in the US? (12941740)
2003
39
Increased permeability of the blood-aqueous barrier after panretinal photocoagulation for proliferative diabetic retinopathy. (11453865)
2001
40
Tissue factor increases in the aqueous humor of proliferative diabetic retinopathy. (11789868)
2001
41
Effect of retinal coagulation status on oxidative metabolite and VEGF in 208 patients with proliferative diabetic retinopathy]. (11258131)
2001
42
Detection of glutamate and gamma-aminobutyric acid in vitreous of patients with proliferative diabetic retinopathy. (12579648)
2000
43
Lack of association between an ecNOS gene polymorphism and diabetic nephropathy in type 2 diabetic patients with proliferative diabetic retinopathy. (10741691)
2000
44
Elevated vitreous nitric oxide levels in patients with proliferative diabetic retinopathy. (11004264)
2000
45
Increased vitreous concentrations of human hepatocyte growth factor in proliferative diabetic retinopathy. (10022434)
1999
46
Severe proliferative diabetic retinopathy associated with acromegaly. (10917684)
1999
47
Iridopathy in eyes with proliferative diabetic retinopathy: detection of early stage of rubeosis iridis. (9438578)
1998
48
Elevated gamma-aminobutyric acid, glutamate, and vascular endothelial growth factor levels in the vitreous of patients with proliferative diabetic retinopathy. (9298058)
1997
49
Asymmetric proliferative diabetic retinopathy and carotid artery disease. (2381700)
1990
50
Filtering valve implant for neovascular glaucoma in proliferative diabetic retinopathy. (6178066)
1982

Variations for Proliferative Diabetic Retinopathy

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Expression for genes affiliated with Proliferative Diabetic Retinopathy

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Proliferative Diabetic Retinopathy

Search GEO for disease gene expression data for Proliferative Diabetic Retinopathy.

Pathways for genes affiliated with Proliferative Diabetic Retinopathy

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Sources:
51PathCards, 39NCBI BioSystems Database, 61Thomson Reuters, 5Cell Signaling Technology, 31KEGG, 54QIAGEN, 56Reactome
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Pathways related to Proliferative Diabetic Retinopathy according to GeneCards/GeneDecks:

(show all 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8VTN, VEGFA
29.8HGF, VEGFA
39.7CCL2, VEGFA
49.6CTGF, VTN
5
Show member pathways
Angiogenesis39
9.6TIMP3, VEGFA
6
Show member pathways
9.4VEGFA, ANGPT2, HGF
7
Show member pathways
Integrin-mediated cell adhesion39
Focal Adhesion39
9.4VTN, VEGFA, HGF
8
Show member pathways
Transcription Receptor mediated HIF regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
9.4VEGFA, VTN, HGF
99.1CCL2, VCAM1
109.1ANGPT2, HGF, VEGFA, VTN
11
Show member pathways
9.0TIMP3, CTGF, HGF
12
Show member pathways
Development VEGF signaling via VEGFR2 generic cascades61
8.8CCL2, VCAM1, VEGFA
138.8TIMP3, HGF, VEGFA, VTN
148.7CCL2, VCAM1, HGF
158.6CXCL10, CCL2, VCAM1
16
Show member pathways
8.3TIMP3, SERPINF1, VTN, HGF, CTGF
17
Show member pathways
8.2CXCL10, CCL2, VCAM1, VTN
18
Show member pathways
8.1HGF, TIMP3, CCL2, ANGPT2, CTGF
19
Show member pathways
8.1HGF, CXCL10, SERPINF1, VEGFA, CCL2, ANGPT2
20
Show member pathways
7.6CTGF, HGF, CCL2, TIMP3, VCAM1
21
Show member pathways
7.6CCL2, TIMP3, HGF, CTGF, CXCL10, ANGPT2
22
Show member pathways
7.6CCL2, HGF, CTGF, CXCL10, TIMP3, ANGPT2
23
Show member pathways
7.6CTGF, CXCL10, ANGPT2, CCL2, HGF, TIMP3

Compounds for genes affiliated with Proliferative Diabetic Retinopathy

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Sources:
46Novoseek, 12DrugBank, 30IUPHAR, 25HMDB, 52PharmGKB, 62Tocris Bioscience, 3BitterDB
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Compounds related to Proliferative Diabetic Retinopathy according to GeneCards/GeneDecks:

(show top 50)    (show all 109)
idCompoundScoreTop Affiliating Genes
1fluorescein46 1210.5SERPINF1, HGF, VEGFA
2triamcinolone acetonide46 3010.4VCAM1, SERPINF1, VEGFA
3streptozotocin469.3CTGF, SERPINF1, HGF
4ang ii469.2CTGF, VEGFA, CCL2
5cilostazol46 1210.0CCL2, HGF, VCAM1
6glycosaminoglycan469.0CXCL10, TIMP3, SERPINF1, VTN
7diphenyleneiodonium468.9VCAM1, VEGFA, SERPINF1, CCL2
8hyaluronic acid46 259.8VEGFA, VTN, HGF, VCAM1
9pioglitazone30 46 52 1211.7CTGF, CCL2, VCAM1, VEGFA
10groalpha468.7CXCL10, VCAM1, CCL2
11heparan sulfate46 259.7VTN, CXCL10, HGF, TIMP3
12simvastatin46 52 62 30 25 1213.6CTGF, VCAM1, VEGFA, CCL2
13losartan46 52 30 1211.6CCL2, VCAM1, HGF, CTGF
14cyclophosphamide46 52 1210.6VCAM1, HGF, CCL2, VEGFA
15sp 60012546 629.6CCL2, VCAM1, CTGF, HGF
16herbimycin a46 629.6VTN, VCAM1, HGF, CCL2
17cytochalasin d46 629.6VCAM1, VTN, CTGF, CCL2
1815-deoxy-delta-12,14-prostaglandin j2468.5CCL2, PTGDS, VCAM1, CTGF, VEGFA
19curcumin468.4VCAM1, VEGFA, CTGF, VTN, CCL2
20fibrinogen468.3CTGF, VTN, ANGPT2, VCAM1, CCL2
21sb 20358046 629.3CTGF, VEGFA, VCAM1, HGF, CCL2
22creatinine468.3HGF, PTGDS, CXCL10, CCL2, CTGF, ANGPT2
23histamine46 30 2510.2HGF, PTGDS, VCAM1, CCL2, CXCL10
24n acetylcysteine468.1VEGFA, SERPINF1, VCAM1, CCL2, HGF, CTGF
25tgf beta1468.0TIMP3, CCL2, HGF, VCAM1, CTGF
26prostacyclin468.0VEGFA, CCL2, VCAM1, VTN, HGF, CTGF
27cycloheximide468.0PTGDS, VTN, CCL2, CXCL10, CTGF, VEGFA
28paraffin467.9HGF, TIMP3, VCAM1, VEGFA, ANGPT2, CCL2
29nitric oxide46 25 129.9CTGF, SERPINF1, VCAM1, CXCL10, ANGPT2, CCL2
30cysteine467.8CTGF, TIMP3, ANGPT2, VCAM1, SERPINF1, VTN
31pd 98,059467.7VTN, HGF, CTGF, CCL2, VCAM1, TIMP3
32genistein46 30 62 3 25 1212.7HGF, CCL2, CXCL10, TIMP3, VEGFA, VCAM1
33testosterone46 62 25 1210.7CCL2, HGF, VCAM1, TIMP3, PTGDS
34heparin46 30 25 1210.6TIMP3, CTGF, HGF, VTN, VCAM1, VEGFA
35cholesterol46 30 25 1210.6CCL2, CXCL10, VCAM1, PTGDS, VTN
36serine467.6CCL2, SERPINF1, HGF, VTN, VCAM1, ANGPT2
37oxygen46 258.4ANGPT2, CCL2, HGF, CTGF, VCAM1, SERPINF1
38wortmannin467.3VTN, TIMP3, HGF, CXCL10, VCAM1, ANGPT2
39glucose467.3CTGF, CCL2, SERPINF1, ANGPT2, TIMP3, CXCL10
40matrigel467.3VTN, ANGPT2, CXCL10, VCAM1, SERPINF1, TIMP3
41pge2467.2VEGFA, VCAM1, CXCL10, CCL2, ANGPT2, CTGF
42estrogen467.1ANGPT2, CTGF, TIMP3, CXCL10, VCAM1, PTGDS
43ly294002467.1VEGFA, TIMP3, ANGPT2, CCL2, VTN, HGF
44calcium46 52 25 1210.0TIMP3, PTGDS, CTGF, VTN, SERPINF1, CXCL10
45phosphatidylinositol466.9TIMP3, CXCL10, VCAM1, CTGF, HGF, CCL2
46lipid466.8PTGDS, VCAM1, CXCL10, CTGF, CCL2, VTN
47tyrosine466.8HGF, TIMP3, CTGF, VEGFA, VTN, ANGPT2
48retinoic acid46 257.8TIMP3, CTGF, HGF, VTN, ANGPT2, VCAM1
49vegf466.3VEGFA, HGF, VTN, CCL2, ANGPT2, CXCL10
50dexamethasone46 52 30 129.3SERPINF1, TIMP3, VEGFA, CTGF, VCAM1, CXCL10

GO Terms for genes affiliated with Proliferative Diabetic Retinopathy

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17Gene Ontology
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Cellular components related to Proliferative Diabetic Retinopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.8HGF, VEGFA
2extracellular matrixGO:0310129.1TIMP3, SERPINF1, VTN
3proteinaceous extracellular matrixGO:0055789.0CTGF, VTN, VEGFA
4extracellular regionGO:0055766.9VEGFA, PTGDS, SERPINF1, CXCL10, ANGPT2, CCL2
5extracellular spaceGO:0056156.2CTGF, VEGFA, PTGDS, SERPINF1, VCAM1, CXCL10

Biological processes related to Proliferative Diabetic Retinopathy according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of vascular endothelial growth factor receptor signaling pathwayGO:03094910.0VEGFA, VTN
2positive chemotaxisGO:0509189.8HGF, VEGFA
3vascular endothelial growth factor receptor signaling pathwayGO:0480109.8CCL2, VEGFA
4positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.7VEGFA, VTN, HGF
5response to amino acidGO:0432009.6CCL2, CTGF
6response to glucocorticoidGO:0513849.6CCL2, SERPINF1, PTGDS
7cellular response to vascular endothelial growth factor stimulusGO:0359249.5VCAM1, VEGFA
8organ regenerationGO:0311009.5HGF, CCL2, ANGPT2
9negative regulation of endopeptidase activityGO:0109519.4TIMP3, SERPINF1, VTN
10chemokine-mediated signaling pathwayGO:0700989.4CXCL10, CCL2
11response to gamma radiationGO:0103329.3CXCL10, CCL2
12response to activityGO:0148239.3CCL2, ANGPT2
13cell chemotaxisGO:0603269.2HGF, VCAM1
14angiogenesisGO:0015259.2VEGFA, ANGPT2, CCL2, CTGF
15negative regulation of angiogenesisGO:0165259.1CCL2, ANGPT2, CXCL10, SERPINF1
16agingGO:0075689.1CCL2, VCAM1, SERPINF1
17response to hypoxiaGO:0016668.8VEGFA, VCAM1, ANGPT2, CCL2

Molecular functions related to Proliferative Diabetic Retinopathy according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:0508409.9VEGFA, VTN
2chemoattractant activityGO:0420569.8HGF, VEGFA
3fibronectin bindingGO:0019689.6CTGF, VEGFA
4chemokine activityGO:0080099.4CCL2, CXCL10
5growth factor activityGO:0080839.4CTGF, HGF, VEGFA
6integrin bindingGO:0051789.0VCAM1, VTN, CTGF
7receptor bindingGO:0051028.8CXCL10, ANGPT2, CCL2
8heparin bindingGO:0082018.5CTGF, VTN, CCL2, CXCL10, VEGFA

Products for genes affiliated with Proliferative Diabetic Retinopathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Proliferative Diabetic Retinopathy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet