MCID: OCL022
MIFTS: 29

Ocular Melanoma malady

Summaries for Ocular Melanoma

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42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 Ocular melanoma (om) is a cancer in pigment-producing cells of the eye called melanocytes.   melanocytes are cells that produce the pigment melanin that colors the skin, hair, and eyes, as well as forms moles.  there are four tissues in the eye in which melanoma can develop: the uveal tract (uvea); conjunctiva; eyelid; and orbit.  the uvea - the middle layer within the eye  - is divided into three main parts: the iris, ciliary body, and choroid.  uveal melanoma, also called intraocular melanoma, is the most common ocular melanoma. conjunctival melanoma manifests on the surface of the eye and has been increasing in incidence. eyelid and primary orbital melanoma are the least common variants. last updated: 1/14/2013

MalaCards: Ocular Melanoma, also known as malignant melanoma of eye, is related to melanoma and hepatitis. An important gene associated with Ocular Melanoma is MC1R (melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)), and among its related pathways is Platelet degranulation . The compounds phosphatidylserine and matrigel have been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related mouse phenotype cardiovascular system.

Aliases & Classifications for Ocular Melanoma

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42NIH Rare Diseases, 44Novoseek, 60UMLS
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Aliases & Descriptions:

ocular melanoma 42 44
malignant melanoma of eye 60


Related Diseases for Ocular Melanoma

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

(show top 50)    (show all 67)
idRelated DiseaseScoreTop Affiliating Genes
1melanoma31.8MAGEA1, CD63, AXL, CYR61, MC1R, PLG
2hepatitis30.9MAGEA1
3intraocular melanoma29.9S100A6, NRAS, MAGEA3, MAGEA1, CYR61, MC1R
4leukemia29.9BRCA2, GAS6, NRAS, MAGEA3, MAGEA1, AXL
5breast cancer29.9BAP1, NRAS, CIITA, GAS6, S100A6, BRCA2
6choroiditis10.6
7hepatitis a10.4
8familial melanoma10.3
9skin melanoma10.2
10amelanotic melanoma10.1
11choroid disease10.1
12thyroiditis10.0CIITA
13medulloblastoma10.0BRCA2
14leiomyoma10.0CYR61
15myeloid leukemia10.0AXL
16cholangiocarcinoma10.0MAGEA3, NRAS
17pancreatitis10.0BRCA2, NRAS
18bile duct carcinoma10.0MAGEA3, BRCA2
19endometriosis10.0CYR61
20arthritis10.0PLG, CIITA
21mesangial proliferative glomerulonephritis10.0AXL, GAS6
22proliferative diabetic retinopathy10.0SERPINF1
23myeloma10.0MAGEA1, CIITA
24sarcoma10.0BRCA2, NRAS, MAGEA3, MAGEA1
25glioblastoma multiforme10.0PLG, MAGEA3, S100A6
26ischemia10.0PLG, CYR61, CIITA
27retinal vascular disease10.0SERPINF1, PLG
28rheumatoid arthritis10.0S100A6, CIITA, PLG
29astrocytoma10.0S100A6, S100A11, CIITA, MAGEA3
30papillary carcinoma10.0BRCA2, S100A6, AXL
31colorectal cancer10.0BRCA2, S100A11, NRAS, MAGEA3, MAGEA1
32thyroid cancer10.0AXL, GAS6, S100A6
33diabetic nephropathy10.0GAS6, AXL, PLG, SERPINF1
34multiple sclerosis10.0MC1R, CIITA
35corneal neovascularization10.0SERPINF1, PLG
36pancreatic cancer10.0BRCA2, S100A6, NRAS, PLG
37endometrial carcinoma10.0PLG, CYR61, NRAS, S100A6, BRCA2
38non-small cell lung carcinoma10.0MAGEA3, MAGEA1, CD63, AXL, CYR61, PLG
39ovarian cancer10.0BRCA2, S100A6, NRAS, MAGEA3, MAGEA1, PLG
40malignant glioma10.0CIITA, CYR61, PLG, HMBS, SERPINF1
41hepatocellular carcinoma10.0BRCA2, CIITA, MAGEA3, MAGEA1, CD63, CYR61
42atherosclerosis10.0GAS6, CIITA, CYR61, PLG, SERPINF1
43stomach cancer10.0BRCA2, S100A6, CIITA, MAGEA3, MAGEA1, AXL
44adenoma10.0S100A6, NRAS, AXL
45adenocarcinoma10.0BRCA2, S100A6, MAGEA3, MAGEA1, CYR61, PLG
46prostate cancer10.0BRCA2, S100A6, GAS6, CD63, CYR61, MC1R
47squamous cell carcinoma10.0S100A6, ANXA6, MAGEA3, MAGEA1, CYR61, MC1R
48lung cancer10.0BRCA2, CIITA, MAGEA3, MAGEA1, CD63, AXL
49malignant peritoneal mesothelioma10.0
50smooth muscle tumor10.0

Graphical network of the top 20 diseases related to Ocular Melanoma:



Diseases related to ocular melanoma

Clinical Features for Ocular Melanoma

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Drugs & Therapeutics for Ocular Melanoma

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Ocular Melanoma

Drug clinical trials:

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Search NIH Clinical Center for Ocular Melanoma

Search CenterWatch for Ocular Melanoma

Genetic Tests for Ocular Melanoma

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Anatomical Context for Ocular Melanoma

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32MalaCards
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MalaCards organs/tissues related to Ocular Melanoma:

32
Eye, Skin

Animal Models for Ocular Melanoma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Ocular Melanoma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.3SERPINF1, PLG, CYR61, AXL, BAP1, ANXA6

Publications for Ocular Melanoma

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Genetic Variations for Ocular Melanoma

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Expression for genes affiliated with Ocular Melanoma

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ocular Melanoma

Search GEO for disease gene expression data for Ocular Melanoma.

Pathways for genes affiliated with Ocular Melanoma

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53Reactome
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Pathways related to Ocular Melanoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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10.1PLG, CD63, GAS6

Compounds for genes affiliated with Ocular Melanoma

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 59Tocris Bioscience, 24HMDB, 49PharmGKB
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Compounds related to Ocular Melanoma according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1phosphatidylserine44 28 1112.0S100A6, GAS6, AXL, ANXA6
2matrigel4410.0BRCA2, CYR61, SERPINF1, PLG
3glyceraldehyde 3-phosphate449.9HMBS, ANXA6, S100A11, S100A6
4paraffin449.8BRCA2, S100A6, MAGEA1, MAGEA3
5phosphatidylinositol449.8CYR61, BRCA2, GAS6, CIITA, CD63, AXL
6oligonucleotide449.8MAGEA3, CIITA, CYR61, NRAS, BRCA2, S100A6
7progesterone44 59 28 11 2413.5ANXA6, S100A6, BRCA2, HMBS, CYR61
8atp44 2810.5S100A6, S100A11, ANXA6, HMBS, CD63, PLG
9steroid449.4CYR61, BRCA2, S100A6, CIITA, PLG
10calcium44 49 11 2412.4GAS6, PDCD6, ANXA6, S100A11, CD63, MC1R
11tyrosine449.4CIITA, ANXA6, SERPINF1, NRAS, PLG, CYR61

GO Terms for genes affiliated with Ocular Melanoma

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16Gene Ontology
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Biological processes related to Ocular Melanoma according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of dendritic cell apoptotic processGO:200066910.5AXL, GAS6
2positive regulation of cytokine-mediated signaling pathwayGO:00196110.4AXL, GAS6
3cellular response to interferon-alphaGO:03545710.4GAS6, AXL
4negative regulation of tumor necrosis factor productionGO:03272010.4MC1R, AXL, GAS6
5enzyme linked receptor protein signaling pathwayGO:00716710.3AXL, GAS6
6positive regulation of protein kinase B signaling cascadeGO:05189710.3MC1R, AXL, GAS6
7positive regulation of natural killer cell differentiationGO:03282510.3AXL, GAS6
8dendritic cell differentiationGO:09702810.2AXL, GAS6
9platelet activationGO:03016810.1GAS6, CD63, AXL, PLG
10labyrinthine layer blood vessel developmentGO:06071610.1PLG, CYR61
11platelet degranulationGO:00257610.0GAS6, CD63, PLG
12apoptotic cell clearanceGO:0432779.9AXL, GAS6

Molecular functions related to Ocular Melanoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1binding, bridgingGO:06009010.2GAS6, PDCD6
2S100 protein bindingGO:04454810.0S100A11, S100A6
3calcium-dependent protein bindingGO:0483069.9S100A6, S100A11, PDCD6
4phosphatidylserine bindingGO:0017869.9AXL, GAS6
5calcium ion bindingGO:0055099.6S100A11, PDCD6, GAS6, ANXA6, S100A6
6protein bindingGO:0055158.3RFC5, BRCA2, S100A6, S100A11, PDCD6, GAS6

Products for genes affiliated with Ocular Melanoma

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  • Antibodies
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Sources for Ocular Melanoma

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet