MCID: SKN004
MIFTS: 20

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
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 pyogenic granuloma. An important gene associated with Skin Amelanotic Melanoma is CFAP410 (Cilia And Flagella Associated Protein 410), and among its related pathways/superpathways are Apoptosis and Autophagy and Glucose / Energy Metabolism. Affiliated tissues include skin.

Related Diseases for Skin Amelanotic Melanoma

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



Diseases related to Skin Amelanotic Melanoma

Symptoms & Phenotypes for Skin Amelanotic Melanoma

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

Pathways related to Skin Amelanotic Melanoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.42 OPA1 COX4I1
2 11.29 OPA1 MFN1 COX4I1
3 10.77 MFN1 FIS1

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 mitochondrial membrane GO:0031966 9.26 OPA1 COX4I1
2 integral component of mitochondrial outer membrane GO:0031307 9.16 MFN1 FIS1
3 mitochondrial outer membrane GO:0005741 9.13 OPA1 MFN1 FIS1
4 mitochondrion GO:0005739 9.02 OPA1 MFN1 FIS1 COX4I1 CFAP410

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to glucose stimulus GO:0071333 9.4 OPA1 FIS1
2 response to nutrient levels GO:0031667 9.37 OPA1 FIS1
3 mitochondrion morphogenesis GO:0070584 9.32 OPA1 FIS1
4 response to muscle activity GO:0014850 9.26 OPA1 FIS1
5 mitochondrial fission GO:0000266 9.16 OPA1 FIS1
6 GTP metabolic process GO:0046039 8.96 OPA1 MFN1
7 mitochondrial fusion GO:0008053 8.8 OPA1 MFN1 FIS1

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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