MCID: CNT041
MIFTS: 35

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 15 73
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 50 C4661 C5504

Summaries for Central Nervous System Melanocytic Neoplasm

Disease Ontology : 12 A central nervous system cancer that is characterized by melanocytic neoplasm that develops from melanocytes, has material basis in abnormally proliferating cells derives from neural crest cells.

MalaCards based summary : Central Nervous System Melanocytic Neoplasm, also known as central nervous system primary melanocytic lesion, is related to phakomatosis cesioflammea and intraocular melanoma. An important gene associated with Central Nervous System Melanocytic Neoplasm is GNAQ (G Protein Subunit Alpha Q), and among its related pathways/superpathways are Gastric cancer and Ras signaling pathway. Affiliated tissues include lung, skin and brain, and 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 10.3 GNA11 GNAQ
2 intraocular melanoma 10.3 GNA11 GNAQ
3 mongolian spot 10.3 ENO2 GNAQ
4 giant congenital nevus 10.3 HRAS NRAS
5 conjunctival cancer 10.2 GNA11 GNAQ NRAS
6 benign struma ovarii 10.2 HRAS NRAS
7 malignant ectomesenchymoma 10.2 ENO2 HRAS
8 ectomesenchymoma 10.2 ENO2 HRAS
9 schimmelpenning-feuerstein-mims syndrome 10.2 HRAS NRAS
10 nodular malignant melanoma 10.2 GNAQ HRAS NRAS
11 liver angiosarcoma 10.2 ENO2 HRAS NRAS
12 thymoma, familial 10.2 HRAS KIT
13 cutaneous ganglioneuroma 10.2 ENO2 KIT
14 ocular cancer 10.2 CDKN2A GNA11 GNAQ
15 uveal disease 10.2 GNA11 GNAQ OPTN
16 gallbladder adenoma 10.2 CDKN2A HRAS
17 nervous system cancer 10.2 CDKN2A ENO2 GNAQ
18 spitz nevus 10.1 CDKN2A HRAS
19 melanocytic nevus syndrome, congenital 10.1 HRAS NRAS TYR
20 gastric leiomyosarcoma 10.1 ENO2 KIT YARS
21 optic nerve neoplasm 10.1 CDKN2A ENO2 OPTN
22 core binding factor acute myeloid leukemia 10.1 HRAS KIT NRAS
23 mixed cell type cancer 10.1 ENO2 HRAS KIT
24 acral lentiginous melanoma 10.1 CDKN2A KIT NRAS
25 gallbladder melanoma 10.1 MLANA PMEL
26 plexiform schwannoma 10.1 ENO2 KIT
27 mucosal melanoma 10.1 GNA11 GNAQ KIT NRAS
28 renal cell carcinoma, papillary, 1 10.1 HRAS KIT NRAS
29 small cell carcinoma 10.1 CDKN2A ENO2 KIT
30 transitional cell carcinoma 10.1 CDKN2A ENO2 HRAS
31 skin granular cell tumor 10.1 CD68 ENO2
32 infiltrating angiolipoma 10.1 CDKN2A MLANA
33 gastrointestinal system cancer 10.0 CDKN2A HRAS KIT
34 adenoid basal cell carcinoma 10.0 CDKN2A KIT
35 malignant anus melanoma 10.0 KIT MLANA
36 aggressive digital papillary adenocarcinoma 10.0 HRAS KIT
37 endometrial squamous cell carcinoma 10.0 CDKN2A HGF
38 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0 PDCD1 PMEL TYR
39 endometrial small cell carcinoma 10.0 ENO2 KIT
40 skin melanoma 10.0 CDKN2A NRAS PMEL TYR
41 pigmented basal cell carcinoma 10.0 MLANA TYR
42 epithelioid cell melanoma 10.0 ENO2 MLANA TYR
43 acute kidney tubular necrosis 10.0 CDKN2A HGF TYR
44 axillary lipoma 10.0 CD68 KIT
45 respiratory system cancer 10.0 CDKN2A ENO2 HRAS PDCD1
46 halo nevi 10.0 MLANA PMEL TYR
47 melanoacanthoma 10.0 MLANA PMEL TYR
48 fox-fordyce disease 10.0 CD68 KIT
49 salivary gland carcinoma 10.0 CDKN2A HGF KIT
50 extracutaneous mastocytoma 10.0 CD68 KIT

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.6 HRAS
2 Decreased viability GR00221-A-1 9.6 CDKN2A HGF HRAS KIT NRAS
3 Decreased viability GR00221-A-2 9.6 HGF HRAS
4 Decreased viability GR00221-A-3 9.6 CDKN2A HRAS NRAS
5 Decreased viability GR00221-A-4 9.6 CDKN2A HGF
6 Decreased viability GR00301-A 9.6 KIT
7 Decreased viability GR00402-S-2 9.6 CDKN2A HGF HRAS KIT NRAS

MGI Mouse Phenotypes related to Central Nervous System Melanocytic Neoplasm:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.23 CDKN2A ENO2 GNA11 GNAQ HGF HRAS
2 homeostasis/metabolism MP:0005376 10.22 CDKN2A GNA11 GNAQ GPR180 HRAS KIT
3 cardiovascular system MP:0005385 10.19 CDKN2A GNA11 GNAQ GPR180 HGF HRAS
4 hematopoietic system MP:0005397 10.13 CD68 CDKN2A GNA11 GNAQ HGF KIT
5 mortality/aging MP:0010768 10.13 CDKN2A GNA11 GNAQ HGF HRAS KIT
6 craniofacial MP:0005382 10.02 ENO2 GNA11 GNAQ HRAS KIT NRAS
7 integument MP:0010771 10.02 CDKN2A GNA11 GNAQ HRAS KIT MLANA
8 no phenotypic analysis MP:0003012 9.96 CD68 CDKN2A HGF HRAS KIT MLANA
9 pigmentation MP:0001186 9.76 CDKN2A GNA11 GNAQ KIT MLANA NRAS
10 respiratory system MP:0005388 9.5 CDKN2A ENO2 GNA11 GNAQ HRAS KIT
11 skeleton MP:0005390 9.32 CD68 CDKN2A GNA11 GNAQ HRAS KIT

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

MalaCards organs/tissues related to Central Nervous System Melanocytic Neoplasm:

41
Lung, Skin, Brain, Kidney, Liver, Heart, Salivary Gland

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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.61 CDKN2A HGF HRAS KIT NRAS
2
Show member pathways
12.53 GNAQ HGF HRAS KIT NRAS
3 12.22 CDKN2A GNA11 GNAQ HGF HRAS KIT
4
Show member pathways
11.88 GNA11 GNAQ HRAS NRAS
5
Show member pathways
11.66 HRAS KIT NRAS
6 11.6 CDKN2A HRAS NRAS
7 11.57 GNA11 GNAQ HRAS NRAS
8
Show member pathways
11.57 CDKN2A GNA11 GNAQ HRAS KIT NRAS
9 11.54 GNA11 GNAQ HGF HRAS NRAS
10 11.53 HRAS KIT NRAS
11 11.51 GNA11 GNAQ HRAS
12 11.5 HRAS NRAS OPTN
13 11.23 GNA11 GNAQ HRAS NRAS
14 11.14 GNA11 GNAQ HGF
15 11.08 GNA11 GNAQ HRAS NRAS
16 11.06 HGF HRAS NRAS
17
Show member pathways
10.79 GNA11 GNAQ
18 10.73 GNAQ HRAS NRAS
19 10.69 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:

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.56 HGF HRAS KIT NRAS
2 G protein-coupled acetylcholine receptor signaling pathway GO:0007213 9.46 GNA11 GNAQ
3 melanin biosynthetic process GO:0042438 9.43 PMEL TYR
4 positive regulation of phospholipase C activity GO:0010863 9.4 HRAS KIT
5 developmental pigmentation GO:0048066 9.37 GNA11 KIT
6 somatic stem cell division GO:0048103 9.32 CDKN2A KIT
7 phototransduction, visible light GO:0007603 9.16 GNA11 GNAQ
8 entrainment of circadian clock GO:0009649 8.96 GNA11 GNAQ
9 Ras protein signal transduction GO:0007265 8.92 CDKN2A HRAS NRAS RREB1

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 guanyl nucleotide binding GO:0019001 8.96 GNA11 GNAQ
3 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
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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