MCID: MXD040
MIFTS: 27

Mixed Cell Uveal Melanoma

Categories: Cancer diseases, Eye diseases, Neuronal diseases, Skin diseases

Aliases & Classifications for Mixed Cell Uveal Melanoma

MalaCards integrated aliases for Mixed Cell Uveal Melanoma:

Name: Mixed Cell Uveal Melanoma 12 15 17 72
Intraocular Mixed Cell Type Melanoma 12
Mixed Cell Type Uveal Melanoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:6522 DOID:6992
NCIt 50 C35781 C7989
UMLS 72 C0279693 C1334782

Summaries for Mixed Cell Uveal Melanoma

MalaCards based summary : Mixed Cell Uveal Melanoma, also known as intraocular mixed cell type melanoma, is related to rheumatoid nodulosis and arteriovenous malformation. An important gene associated with Mixed Cell Uveal Melanoma is TIMP2 (TIMP Metallopeptidase Inhibitor 2), and among its related pathways/superpathways are Innate Immune System and GPCR Pathway. Affiliated tissues include eye, and related phenotypes are hematopoietic system and homeostasis/metabolism

Related Diseases for Mixed Cell Uveal Melanoma

Diseases related to Mixed Cell Uveal Melanoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 rheumatoid nodulosis 10.2 MMP9 MMP3
2 arteriovenous malformation 10.2 MMP9 MMP3
3 blepharochalasis 10.2 MMP9 MMP3
4 preterm premature rupture of the membranes 10.2 TIMP2 MMP9
5 adult astrocytic tumour 10.2 MMP9 MMP3
6 autoimmune inner ear disease 10.1 TIMP1 MMP9
7 inner ear disease 10.1 TIMP1 MMP9
8 cryptogenic organizing pneumonia 10.1 TIMP1 MMP9
9 vitreoretinopathy, neovascular inflammatory 10.1 TIMP2 TIMP1
10 takayasu arteritis 10.1 MMP9 MMP3
11 bone deterioration disease 10.1 TIMP1 MMP3
12 chronic venous insufficiency 10.0 TIMP1 MMP9
13 venous insufficiency 10.0 TIMP1 MMP9
14 tendinosis 10.0 TIMP1 MMP3
15 central nervous system tuberculosis 10.0 TIMP1 MMP9
16 appendicitis 10.0 TIMP1 MMP9
17 bronchiolitis obliterans 10.0 TIMP1 MMP9
18 bone inflammation disease 10.0 TIMP1 MMP3
19 extracranial arteriovenous malformation 9.9 MMP9 MMP2
20 relapsing-remitting multiple sclerosis 9.9 TIMP1 MMP9
21 focal myositis 9.9 MMP9 MMP2
22 villous adenocarcinoma 9.9 MMP9 MMP2
23 lentigo maligna melanoma 9.9 MMP9 MMP2
24 psammomatous meningioma 9.9 MMP9 MMP2
25 acute transverse myelitis 9.9 MMP9 MMP2
26 transverse myelitis 9.9 MMP9 MMP2
27 senile ectropion 9.9 MMP9 MMP2
28 internal hemorrhoid 9.9 MMP9 MMP2
29 light chain deposition disease 9.9 MMP9 MMP2
30 ischemic colitis 9.9 MMP9 MMP2
31 parotitis 9.9 MMP9 MMP2
32 klatskin's tumor 9.9 MMP9 MMP2
33 odontogenic myxoma 9.9 MMP9 MMP2
34 septic arthritis 9.9 MMP3 MMP2
35 newcastle disease 9.9 MMP9 MMP2
36 laryngeal disease 9.8 MMP9 MMP2
37 hypertensive heart disease 9.8 MMP9 MMP2
38 pneumothorax 9.8 MMP9 MMP2
39 skin melanoma 9.8 MMP9 MMP2
40 grade iii astrocytoma 9.8 MMP9 MMP2
41 aortic disease 9.8 MMP9 MMP2
42 tongue cancer 9.8 MMP9 MMP2
43 gingival hypertrophy 9.8 TIMP2 MMP9 MMP3
44 hypertrophic scars 9.8 TIMP1 MMP2
45 lung giant cell carcinoma 9.8 TIMP1 MMP2
46 maxillary cancer 9.8 TIMP1 MMP2
47 oral cancer 9.8 MMP9 MMP2
48 female reproductive system disease 9.8 MMP9 MMP2
49 reproductive system disease 9.8 MMP9 MMP2
50 respiratory system cancer 9.7 MMP9 MMP2

Graphical network of the top 20 diseases related to Mixed Cell Uveal Melanoma:



Diseases related to Mixed Cell Uveal Melanoma

Symptoms & Phenotypes for Mixed Cell Uveal Melanoma

MGI Mouse Phenotypes related to Mixed Cell Uveal Melanoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.55 MMP2 MMP3 MMP9 TIMP1 TIMP2
2 homeostasis/metabolism MP:0005376 9.35 MMP2 MMP3 MMP9 TIMP1 TIMP2
3 immune system MP:0005387 9.02 MMP2 MMP3 MMP9 TIMP1 TIMP2

Drugs & Therapeutics for Mixed Cell Uveal Melanoma

Search Clinical Trials , NIH Clinical Center for Mixed Cell Uveal Melanoma

Genetic Tests for Mixed Cell Uveal Melanoma

Anatomical Context for Mixed Cell Uveal Melanoma

MalaCards organs/tissues related to Mixed Cell Uveal Melanoma:

41
Eye

Publications for Mixed Cell Uveal Melanoma

Articles related to Mixed Cell Uveal Melanoma:

# Title Authors PMID Year
1
Choroidal melanoma in a 6-year-old female: ultrasonographic diagnosis. 38
23431733 2012

Variations for Mixed Cell Uveal Melanoma

Expression for Mixed Cell Uveal Melanoma

Search GEO for disease gene expression data for Mixed Cell Uveal Melanoma.

Pathways for Mixed Cell Uveal Melanoma

Pathways related to Mixed Cell Uveal Melanoma according to GeneCards Suite gene sharing:

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 TIMP2 TIMP1 MMP9 MMP3 MMP2
2
Show member pathways
13.28 TIMP2 TIMP1 MMP9 MMP3 MMP2
3
Show member pathways
12.99 TIMP1 MMP9 MMP3 MMP2
4
Show member pathways
12.31 TIMP2 TIMP1 MMP9 MMP3 MMP2
5
Show member pathways
11.91 MMP9 MMP3 MMP2
6
Show member pathways
11.77 MMP9 MMP3 MMP2
7 11.74 MMP9 MMP3 MMP2
8 11.69 MMP9 MMP3
9 11.68 TIMP1 MMP9 MMP3 MMP2
10
Show member pathways
11.55 TIMP2 TIMP1 MMP9 MMP3 MMP2
11 11.53 MMP9 MMP2
12 11.48 MMP9 MMP2
13 11.46 MMP9 MMP3
14
Show member pathways
11.43 MMP9 MMP3 MMP2
15 11.42 MMP9 MMP2
16 11.41 MMP9 MMP2
17 11.41 TIMP1 MMP9 MMP2
18 11.3 TIMP2 TIMP1 MMP9 MMP3 MMP2
19 11.27 MMP9 MMP2
20
Show member pathways
11.24 MMP9 MMP2
21 11.17 TIMP2 MMP9 MMP3
22 11.1 MMP9 MMP2
23 11.06 MMP9 MMP2
24 10.96 MMP9 MMP2
25 10.94 TIMP2 TIMP1 MMP9
26 10.92 TIMP2 MMP9
27 10.89 MMP9 MMP2
28 10.81 TIMP2 TIMP1 MMP9 MMP3 MMP2

GO Terms for Mixed Cell Uveal Melanoma

Cellular components related to Mixed Cell Uveal Melanoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.55 TIMP2 TIMP1 MMP9 MMP3 MMP2
2 collagen-containing extracellular matrix GO:0062023 9.43 TIMP2 MMP9 MMP2
3 extracellular space GO:0005615 9.35 TIMP2 TIMP1 MMP9 MMP3 MMP2
4 tertiary granule lumen GO:1904724 9.32 TIMP2 MMP9
5 extracellular matrix GO:0031012 9.02 TIMP2 TIMP1 MMP9 MMP3 MMP2

Biological processes related to Mixed Cell Uveal Melanoma according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 response to organic substance GO:0010033 9.52 TIMP2 TIMP1
2 ephrin receptor signaling pathway GO:0048013 9.51 MMP9 MMP2
3 response to hormone GO:0009725 9.49 TIMP2 TIMP1
4 response to cytokine GO:0034097 9.48 TIMP2 TIMP1
5 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.46 MMP9 MMP2
6 cytokine-mediated signaling pathway GO:0019221 9.46 TIMP1 MMP9 MMP3 MMP2
7 embryo implantation GO:0007566 9.43 MMP9 MMP2
8 endodermal cell differentiation GO:0035987 9.4 MMP9 MMP2
9 negative regulation of membrane protein ectodomain proteolysis GO:0051045 9.37 TIMP2 TIMP1
10 regulation of neuroinflammatory response GO:0150077 9.32 MMP9 MMP3
11 negative regulation of metallopeptidase activity GO:1905049 9.26 TIMP2 TIMP1
12 collagen catabolic process GO:0030574 9.13 MMP9 MMP3 MMP2
13 extracellular matrix disassembly GO:0022617 9.02 TIMP2 TIMP1 MMP9 MMP3 MMP2

Molecular functions related to Mixed Cell Uveal Melanoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.8 TIMP2 TIMP1 MMP9 MMP3 MMP2
2 peptidase activity GO:0008233 9.61 MMP9 MMP3 MMP2
3 serine-type endopeptidase activity GO:0004252 9.5 MMP9 MMP3 MMP2
4 protease binding GO:0002020 9.48 TIMP2 TIMP1
5 endopeptidase activity GO:0004175 9.46 MMP9 MMP3
6 enzyme inhibitor activity GO:0004857 9.37 TIMP2 TIMP1
7 metallopeptidase activity GO:0008237 9.33 MMP9 MMP3 MMP2
8 metalloendopeptidase inhibitor activity GO:0008191 9.26 TIMP2 TIMP1
9 metalloendopeptidase activity GO:0004222 9.13 MMP9 MMP3 MMP2
10 zinc ion binding GO:0008270 9.02 TIMP2 TIMP1 MMP9 MMP3 MMP2

Sources for Mixed Cell Uveal Melanoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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