MCID: MXD040
MIFTS: 31

Mixed Cell Uveal Melanoma

Categories: Cancer diseases, Eye 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 71
Intraocular Mixed Cell Type Melanoma 12 15
Mixed Cell Type Uveal Melanoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:6522 DOID:6992
NCIt 49 C35781 C7989
UMLS 71 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 extracranial arteriovenous malformation and dentin caries. An important gene associated with Mixed Cell Uveal Melanoma is EIF1B (Eukaryotic Translation Initiation Factor 1B), and among its related pathways/superpathways are Degradation of the extracellular matrix and Adhesion. Affiliated tissues include eye, heart and skin, and related phenotypes are behavior/neurological and cardiovascular system

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 112)
# Related Disease Score Top Affiliating Genes
1 extracranial arteriovenous malformation 10.4 MMP9 MMP2
2 dentin caries 10.4 MMP3 MMP2
3 focal myositis 10.4 MMP9 MMP2
4 acute transverse myelitis 10.3 MMP9 MMP2
5 transverse myelitis 10.3 MMP9 MMP2
6 rheumatoid nodulosis 10.3 MMP9 MMP3
7 phakomatosis cesioflammea 10.3 GNAQ GNA11
8 nasal cavity squamous cell carcinoma 10.3 MMP9 MMP2
9 light chain deposition disease 10.3 MMP9 MMP2
10 autoimmune inner ear disease 10.3 TIMP1 MMP9
11 odontogenic myxoma 10.2 MMP9 MMP2
12 senile ectropion 10.2 MMP9 MMP2
13 spastic entropion 10.2 MMP9 MMP3 MMP2
14 ameloblastoma 10.2 MMP9 MMP2 BSG
15 malignant anus melanoma 10.2 MLANA GNAQ
16 adenomyosis 10.2 TIMP2 MMP9 MMP2
17 hypertensive heart disease 10.2 TIMP2 MMP9 MMP2
18 sensory organ benign neoplasm 10.1 MLANA GNAQ
19 corneal ulcer 10.1 MMP9 MMP3 MMP2
20 gingival hypertrophy 10.1 TIMP2 MMP9 MMP3
21 limb ischemia 10.1 TIMP2 MMP9 MMP2
22 gingival overgrowth 10.1 TIMP1 MMP3 MMP2
23 melanotic neurilemmoma 10.1 MLANA GNAQ
24 fungal keratitis 10.1 TIMP2 TIMP1 MMP9
25 lung giant cell carcinoma 10.1 TIMP1 MMP9 MMP2
26 melanoma in congenital melanocytic nevus 10.1 PMEL MLANA
27 takayasu arteritis 10.1 MMP9 MMP3 MMP2
28 systolic heart failure 10.1 TIMP1 MMP9 MMP2
29 heart aneurysm 10.1 MMP9 MMP3
30 chronic venous insufficiency 10.1 TIMP2 TIMP1 MMP9
31 appendicitis 10.0 TIMP1 MMP9 MMP3
32 spinal stenosis 10.0 TIMP2 TIMP1 MMP3 MMP2
33 carotid artery disease 10.0 TIMP1 MMP9 MMP3
34 angiokeratoma of fordyce 10.0 MMP9 GNAQ
35 gallbladder melanoma 10.0 PMEL MLANA
36 gingival fibromatosis 10.0 TIMP2 TIMP1 MMP3 MMP2
37 aortic disease 10.0 TIMP1 MMP9 MMP2
38 adult teratoma 10.0 ENG BSG
39 lentigo maligna melanoma 10.0 MMP9 MMP2 MLANA
40 vitreoretinopathy, neovascular inflammatory 10.0 TIMP2 TIMP1 GFAP
41 septic myocarditis 10.0 TYR TIMP1
42 malignant ciliary body melanoma 10.0 TYR MLANA
43 coronary aneurysm 10.0 MMP9 MMP3
44 malignant leptomeningeal tumor 10.0 MLANA GNAQ GNA11
45 meningeal melanoma 10.0 MLANA GNAQ GNA11
46 meningeal melanomatosis 10.0 MLANA GNAQ GNA11
47 melanomatosis 10.0 MLANA GNAQ GNA11
48 vaginal endometrial stromal sarcoma 10.0 MLANA GFAP
49 cutis laxa 10.0 MMP9 MMP3 MMP2
50 meningeal melanocytoma 10.0 MLANA GNAQ GNA11

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:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.34 ENG ERBIN FXR1 GFAP GNA11 GNAQ
2 cardiovascular system MP:0005385 10.33 ENG FXR1 GFAP GNA11 GNAQ MMP2
3 growth/size/body region MP:0005378 10.32 BSG ENG FXR1 GFAP GNA11 GNAQ
4 homeostasis/metabolism MP:0005376 10.32 EIF1B ENG GFAP GNA11 GNAQ MMP2
5 hematopoietic system MP:0005397 10.27 BSG ENG FXR1 GNA11 GNAQ MMP2
6 immune system MP:0005387 10.23 BSG FXR1 GFAP GNA11 GNAQ MMP2
7 mortality/aging MP:0010768 10.22 BSG ENG FXR1 GFAP GNA11 GNAQ
8 endocrine/exocrine gland MP:0005379 10.18 BSG FXR1 GNA11 GNAQ ROBO1 SATB1
9 integument MP:0010771 10.13 ENG ERBIN GNA11 GNAQ MLANA MMP9
10 nervous system MP:0003631 10.13 BSG ENG ERBIN GFAP GNA11 GNAQ
11 craniofacial MP:0005382 10.08 ENG GNA11 GNAQ MMP2 ROBO1 TBX3
12 muscle MP:0005369 10.02 ENG FXR1 GFAP GNA11 GNAQ MMP2
13 normal MP:0002873 9.91 ENG GFAP GNA11 GNAQ MMP2 ROBO1
14 respiratory system MP:0005388 9.61 BSG ENG FXR1 GNA11 GNAQ MMP2
15 pigmentation MP:0001186 9.55 GNA11 GNAQ MLANA PMEL TYR
16 skeleton MP:0005390 9.32 GNA11 GNAQ MMP2 MMP3 MMP9 ROBO1

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:

40
Eye, Heart, Skin, Brain, Spinal Cord, Lung

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. 61
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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 TIMP2 TIMP1 MMP9 MMP3 MMP2 BSG
2 11.82 MMP9 MMP3 MMP2 BSG
3 11.76 TIMP1 MMP9 MMP3 MMP2
4
Show member pathways
11.47 MMP9 MMP3 MMP2
5 11.45 TIMP1 MMP9 MMP2
6
Show member pathways
11.43 TIMP2 TIMP1 MMP9 MMP3 MMP2 BSG
7 11.37 MMP9 MMP2 GNAQ GNA11
8 11.34 TIMP2 TIMP1 MMP9 MMP3 MMP2
9 11.22 TIMP2 MMP9 MMP3
10 11.05 TIMP2 TIMP1 MMP9 MMP3 MMP2 ENG
11 10.94 TIMP2 TIMP1 MMP9
12 10.75 MMP9 BSG
13
Show member pathways
10.71 GNAQ GNA11

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 matrix GO:0031012 9.35 TIMP2 TIMP1 MMP9 MMP3 MMP2
2 melanosome GO:0042470 8.92 TYR PMEL MLANA BSG

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.84 TIMP1 MMP9 MMP3 MMP2
2 action potential GO:0001508 9.55 GNAQ GNA11
3 extracellular matrix organization GO:0030198 9.55 MMP9 MMP3 MMP2 GFAP BSG
4 G protein-coupled acetylcholine receptor signaling pathway GO:0007213 9.52 GNAQ GNA11
5 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.51 GNAQ GNA11
6 collagen catabolic process GO:0030574 9.5 MMP9 MMP3 MMP2
7 melanin biosynthetic process GO:0042438 9.49 TYR PMEL
8 regulation of neuroinflammatory response GO:0150077 9.48 MMP9 MMP3
9 phototransduction, visible light GO:0007603 9.46 GNAQ GNA11
10 negative regulation of membrane protein ectodomain proteolysis GO:0051045 9.43 TIMP2 TIMP1
11 embryo implantation GO:0007566 9.43 MMP9 MMP2 BSG
12 entrainment of circadian clock GO:0009649 9.4 GNAQ GNA11
13 negative regulation of metallopeptidase activity GO:1905049 9.37 TIMP2 TIMP1
14 response to amyloid-beta GO:1904645 9.13 MMP9 MMP3 MMP2
15 extracellular matrix disassembly GO:0022617 9.1 TIMP2 TIMP1 MMP9 MMP3 MMP2 BSG

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

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.63 TIMP2 TIMP1 MMP9 MMP3 MMP2 LMCD1
2 protein binding GO:0005515 9.6 TYR TIMP2 TIMP1 TBX3 SATB1 ROBO1
3 metalloendopeptidase activity GO:0004222 9.43 MMP9 MMP3 MMP2
4 guanyl nucleotide binding GO:0019001 9.37 GNAQ GNA11
5 metalloendopeptidase inhibitor activity GO:0008191 9.32 TIMP2 TIMP1
6 type 2A serotonin receptor binding GO:0031826 8.96 GNAQ GNA11

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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