MCID: SKN004
MIFTS: 22

Skin Amelanotic Melanoma

Categories: Cancer diseases, Skin diseases

Aliases & Classifications for Skin Amelanotic Melanoma

MalaCards integrated aliases for Skin Amelanotic Melanoma:

Name: Skin Amelanotic Melanoma 12 15
Skin Amelanotic Malignant Melanoma 12
Amelanotic Skin Melanoma 17

Classifications:



External Ids:

Disease Ontology 12 DOID:10054
NCIt 49 C4633
SNOMED-CT 67 276751004
UMLS 71 C0349515

Summaries for Skin Amelanotic Melanoma

MalaCards based summary : Skin Amelanotic Melanoma, also known as skin amelanotic malignant melanoma, is related to amelanotic melanoma and melanoma, cutaneous malignant 10. An important gene associated with Skin Amelanotic Melanoma is PTGER1 (Prostaglandin E Receptor 1), and among its related pathways/superpathways are Human cytomegalovirus infection and Pathways in cancer. Affiliated tissues include skin, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Skin Amelanotic Melanoma

Diseases related to Skin Amelanotic Melanoma via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 amelanotic melanoma 11.6
2 melanoma, cutaneous malignant 10 10.0
3 melanoma 10.0
4 pyogenic granuloma 10.0
5 optic atrophy 1 9.6 OPA1 FIS1
6 cranial nerve disease 9.5 OPA1 FIS1
7 optic nerve disease 9.4 OPA1 FIS1
8 primary hypertrophic osteoarthropathy 9.3 PTGER4 PTGER3 PTGER1
9 antenatal bartter syndrome 9.3 PTGER4 PTGER3 PTGER1
10 3-methylglutaconic aciduria, type iii 9.3 OPA1 FIS1 CFAP410

Graphical network of the top 20 diseases related to Skin Amelanotic Melanoma:



Diseases related to Skin Amelanotic Melanoma

Symptoms & Phenotypes for Skin Amelanotic Melanoma

GenomeRNAi Phenotypes related to Skin Amelanotic Melanoma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.23 PTGER1 PTGER3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.23 PTGER1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.23 PTGER1 PTGER3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.23 PTGER3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.23 PTGER3
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.23 PTGER3

Drugs & Therapeutics for Skin Amelanotic Melanoma

Search Clinical Trials , NIH Clinical Center for Skin Amelanotic Melanoma

Genetic Tests for Skin Amelanotic Melanoma

Anatomical Context for Skin Amelanotic Melanoma

MalaCards organs/tissues related to Skin Amelanotic Melanoma:

40
Skin

Publications for Skin Amelanotic Melanoma

Variations for Skin Amelanotic Melanoma

Cosmic variations for Skin Amelanotic Melanoma:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM97107359 NRAS skin,NS,malignant melanoma,amelanotic c.182A>G p.Q61R 1:114713908-114713908 12
2 COSM150563774 BRAF skin,NS,malignant melanoma,amelanotic c.1799T>A p.V600E 7:140753336-140753336 12
3 COSM150564452 BRAF skin,NS,malignant melanoma,amelanotic c.1801A>G p.K601E 7:140753334-140753334 12
4 COSM118788384 skin,NS,malignant melanoma,amelanotic c.1801A>G p.K601E 7:140753334-140753334 12
5 COSM118787231 skin,NS,malignant melanoma,amelanotic c.1799T>A p.V600E 7:140753336-140753336 12
6 COSM88803061 skin,NS,malignant melanoma,amelanotic c.1919T>A p.V640E 7:140753336-140753336 12
7 COSM88804430 skin,NS,malignant melanoma,amelanotic c.1921A>G p.K641E 7:140753334-140753334 12
8 COSM149386940 skin,NS,malignant melanoma,amelanotic c.1921A>G p.K641E 7:140753334-140753334 12
9 COSM149385292 skin,NS,malignant melanoma,amelanotic c.1919T>A p.V640E 7:140753336-140753336 12

Expression for Skin Amelanotic Melanoma

Search GEO for disease gene expression data for Skin Amelanotic Melanoma.

Pathways for Skin Amelanotic Melanoma

GO Terms for Skin Amelanotic Melanoma

Cellular components related to Skin Amelanotic Melanoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.02 PTGER4 PTGER3 PTGER1 OPA1 FIS1

Biological processes related to Skin Amelanotic Melanoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.58 PTGER4 PTGER3 PTGER1
2 response to lipopolysaccharide GO:0032496 9.48 PTGER4 PTGER1
3 response to nutrient levels GO:0031667 9.46 OPA1 FIS1
4 cellular response to glucose stimulus GO:0071333 9.43 OPA1 FIS1
5 mitochondrion morphogenesis GO:0070584 9.37 OPA1 FIS1
6 response to muscle activity GO:0014850 9.32 OPA1 FIS1
7 mitochondrial fission GO:0000266 9.26 OPA1 FIS1
8 mitochondrial fusion GO:0008053 9.16 OPA1 FIS1
9 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.13 PTGER4 PTGER3 PTGER1
10 positive regulation of cytosolic calcium ion concentration GO:0007204 8.92 PTGER4 PTGER3 PTGER1 FIS1

Molecular functions related to Skin Amelanotic Melanoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor activity GO:0004930 9.33 PTGER4 PTGER3 PTGER1
2 prostaglandin E receptor activity GO:0004957 9.13 PTGER4 PTGER3 PTGER1
3 prostaglandin receptor activity GO:0004955 8.8 PTGER4 PTGER3 PTGER1

Sources for Skin Amelanotic 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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