MCID: CNT041
MIFTS: 32

Central Nervous System Melanocytic Neoplasm

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Central Nervous System Melanocytic Neoplasm

MalaCards integrated aliases for Central Nervous System Melanocytic Neoplasm:

Name: Central Nervous System Melanocytic Neoplasm 12 14 69
Central Nervous System Primary Melanocytic Lesion 12
Primary Melanocytic Lesion of Meninges 12
Primary Melanocytic Lesions of the Cns 12
Melanocytic Tumor of the Cns 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4955
NCIt 46 C4661 C5504
SNOMED-CT 64 277523004

Summaries for Central Nervous System Melanocytic Neoplasm

MalaCards based summary : Central Nervous System Melanocytic Neoplasm, also known as central nervous system primary melanocytic lesion, is related to phakomatosis cesioflammea and mongolian spot. An important gene associated with Central Nervous System Melanocytic Neoplasm is GNAQ (G Protein Subunit Alpha Q), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Gastric cancer. Related phenotypes are Decreased viability and Decreased viability

Related Diseases for Central Nervous System Melanocytic Neoplasm

Diseases related to Central Nervous System Melanocytic Neoplasm via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 phakomatosis cesioflammea 10.6 GNA11 GNAQ
2 mongolian spot 10.5 ENO2 GNAQ
3 conjunctival cancer 10.5 GNA11 GNAQ NRAS
4 malignant ectomesenchymoma 10.5 ENO2 HRAS
5 schimmelpenning-feuerstein-mims syndrome 10.5 HRAS NRAS
6 benign struma ovarii 10.4 HRAS NRAS
7 ectomesenchymoma 10.4 ENO2 HRAS
8 spitz nevus 10.4 CDKN2A HRAS
9 sensory system cancer 10.4 CDKN2A GNA11 GNAQ
10 liver angiosarcoma 10.3 ENO2 HRAS NRAS
11 cutaneous ganglioneuroma 10.3 ENO2 KIT
12 ocular cancer 10.3 CDKN2A GNA11 GNAQ
13 marcus gunn phenomenon 10.3 HRAS NRAS
14 malignant conjunctival melanoma 10.3 GNA11 GNAQ HRAS NRAS
15 differentiated thyroid carcinoma 10.2 CDKN2A HRAS NRAS
16 endocrine gland cancer 10.2 CDKN2A ENO2 HRAS
17 melanocytic nevus syndrome, congenital 10.2 HRAS NRAS TYR
18 nervous system cancer 10.2 CDKN2A ENO2 GNA11 GNAQ
19 gastric leiomyosarcoma 10.2 ENO2 KIT YARS
20 core binding factor acute myeloid leukemia 10.2 HRAS KIT NRAS
21 mixed cell type cancer 10.2 ENO2 HRAS KIT
22 acral lentiginous melanoma 10.2 CDKN2A KIT NRAS
23 small cell neuroendocrine carcinoma 10.2 CDKN2A ENO2 KIT
24 gallbladder melanoma 10.2 MLANA PMEL
25 dyschromatosis symmetrica hereditaria 10.2 HRAS TYR YARS
26 pilocytic astrocytoma 10.1 CDKN2A HRAS NRAS
27 mucosal melanoma 10.1 GNA11 GNAQ KIT NRAS
28 infiltrating angiolipoma 10.1 CDKN2A MLANA
29 gastrointestinal system benign neoplasm 10.1 CDKN2A HRAS KIT
30 adenoid basal cell carcinoma 10.1 CDKN2A KIT
31 aggressive digital papillary adenocarcinoma 10.1 HRAS KIT
32 endometrial squamous cell carcinoma 10.1 CDKN2A HGF
33 miliary tuberculosis 10.1 ENO2 PDCD1
34 small cell sarcoma 10.0 CDKN2A MLANA NRAS
35 gastrointestinal system cancer 10.0 CDKN2A HRAS KIT
36 malignant anus melanoma 10.0 KIT MLANA
37 pigmented basal cell carcinoma 10.0 MLANA TYR
38 epithelioid cell melanoma 10.0 ENO2 MLANA TYR
39 acute kidney tubular necrosis 10.0 CDKN2A HGF TYR
40 skin melanoma 10.0 CDKN2A NRAS PMEL TYR
41 axillary lipoma 10.0 CD68 KIT
42 fox-fordyce disease 9.9 CD68 KIT
43 extracutaneous mastocytoma 9.9 CD68 KIT
44 halo nevi 9.9 MLANA PMEL TYR
45 melanoacanthoma 9.9 MLANA PMEL TYR
46 verruciform xanthoma of skin 9.9 CD68 S100A9
47 lymphohistiocytoid mesothelioma 9.9 CD68 CDKN2A
48 nodular tenosynovitis 9.9 CD68 S100A9
49 leukemia, acute myeloid 9.9 CDKN2A HRAS KIT NRAS
50 melanoma, cutaneous malignant 1 9.8 CDKN2A GNAQ HRAS KIT NRAS

Graphical network of the top 20 diseases related to Central Nervous System Melanocytic Neoplasm:



Diseases related to Central Nervous System Melanocytic Neoplasm

Symptoms & Phenotypes for Central Nervous System Melanocytic Neoplasm

GenomeRNAi Phenotypes related to Central Nervous System Melanocytic Neoplasm according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.47 HRAS
2 Decreased viability GR00221-A-1 9.47 NRAS CDKN2A HGF HRAS KIT
3 Decreased viability GR00221-A-2 9.47 HGF HRAS
4 Decreased viability GR00221-A-3 9.47 NRAS CDKN2A HRAS
5 Decreased viability GR00221-A-4 9.47 CDKN2A HGF
6 Decreased viability GR00301-A 9.47 KIT

MGI Mouse Phenotypes related to Central Nervous System Melanocytic Neoplasm:

43 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.26 TYR NRAS YARS PDCD1 ZIC1 KIT
2 cardiovascular system MP:0005385 10.21 TYR NRAS PDCD1 KIT CDKN2A GPR180
3 homeostasis/metabolism MP:0005376 10.21 KIT PMEL S100A9 TYR NRAS YARS
4 hematopoietic system MP:0005397 10.16 PMEL KIT S100A9 NRAS PDCD1 GNAQ
5 mortality/aging MP:0010768 10.15 KIT S100A9 TYR NRAS YARS ZIC1
6 integument MP:0010771 10.06 PMEL MLANA TYR NRAS KIT CDKN2A
7 craniofacial MP:0005382 10.04 KIT TYR NRAS GNAQ ENO2 HRAS
8 no phenotypic analysis MP:0003012 9.91 PMEL MLANA TYR NRAS CDKN2A HGF
9 neoplasm MP:0002006 9.8 KIT TYR NRAS PDCD1 CDKN2A HRAS
10 pigmentation MP:0001186 9.76 PMEL MLANA TYR NRAS CDKN2A GNA11
11 respiratory system MP:0005388 9.5 KIT PDCD1 GNAQ CDKN2A ENO2 HRAS
12 skeleton MP:0005390 9.32 TYR NRAS PDCD1 ZIC1 KIT CDKN2A

Drugs & Therapeutics for Central Nervous System Melanocytic Neoplasm

Search Clinical Trials , NIH Clinical Center for Central Nervous System Melanocytic Neoplasm

Genetic Tests for Central Nervous System Melanocytic Neoplasm

Anatomical Context for Central Nervous System Melanocytic Neoplasm

Publications for Central Nervous System Melanocytic Neoplasm

Variations for Central Nervous System Melanocytic Neoplasm

Expression for Central Nervous System Melanocytic Neoplasm

Search GEO for disease gene expression data for Central Nervous System Melanocytic Neoplasm.

Pathways for Central Nervous System Melanocytic Neoplasm

Pathways related to Central Nervous System Melanocytic Neoplasm according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 GNA11 GNAQ HRAS KIT NRAS
2
Show member pathways
12.57 CDKN2A HGF HRAS KIT NRAS
3
Show member pathways
12.53 GNAQ HGF HRAS KIT NRAS
4
Show member pathways
12.08 GNAQ HRAS KIT NRAS TYR
5 11.89 CDKN2A GNA11 GNAQ HGF HRAS KIT
6
Show member pathways
11.83 GNA11 GNAQ HRAS NRAS
7
Show member pathways
11.64 HRAS KIT NRAS
8 11.56 CDKN2A HRAS NRAS
9 11.5 GNA11 GNAQ HRAS NRAS
10 11.47 HRAS KIT NRAS
11 11.45 GNA11 GNAQ HRAS
12 11.11 GNA11 GNAQ HGF
13 11.03 GNA11 GNAQ HRAS NRAS
14 11.02 HGF HRAS NRAS
15
Show member pathways
10.77 GNA11 GNAQ
16 10.67 HRAS NRAS
17 10.63 GNAQ HRAS NRAS

GO Terms for Central Nervous System Melanocytic Neoplasm

Cellular components related to Central Nervous System Melanocytic Neoplasm according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 melanosome GO:0042470 8.8 MLANA PMEL TYR

Biological processes related to Central Nervous System Melanocytic Neoplasm according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.73 HGF HRAS KIT NRAS
2 action potential GO:0001508 9.49 GNA11 GNAQ
3 G-protein coupled acetylcholine receptor signaling pathway GO:0007213 9.48 GNA11 GNAQ
4 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.46 GNA11 GNAQ
5 melanin biosynthetic process GO:0042438 9.4 PMEL TYR
6 somatic stem cell division GO:0048103 9.37 CDKN2A KIT
7 phototransduction, visible light GO:0007603 9.32 GNA11 GNAQ
8 entrainment of circadian clock GO:0009649 9.26 GNA11 GNAQ
9 Ras protein signal transduction GO:0007265 9.26 CDKN2A HRAS NRAS RREB1
10 regulation of melanocyte differentiation GO:0045634 9.16 GNA11 GNAQ
11 developmental pigmentation GO:0048066 8.92 GNA11 GNAQ KIT PMEL

Molecular functions related to Central Nervous System Melanocytic Neoplasm according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTPase activity GO:0003924 9.46 GNA11 GNAQ HRAS NRAS
2 signal transducer activity GO:0004871 9.35 GNA11 GNAQ PDCD1 S100A9 YARS
3 guanyl nucleotide binding GO:0019001 9.26 GNA11 GNAQ
4 type 2A serotonin receptor binding GO:0031826 8.62 GNA11 GNAQ

Sources for Central Nervous System Melanocytic Neoplasm

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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