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MCID: SKN004
MIFTS: 20

Skin Amelanotic Melanoma

Categories: Cancer diseases, Skin diseases
Genes Variations Tissues Related diseases Pathways
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Aliases & Classifications for Skin Amelanotic Melanoma

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MalaCards integrated aliases for Skin Amelanotic Melanoma:

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

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:10054
NCIt 49 C4633
UMLS 71 C0349515
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Summaries for Skin Amelanotic Melanoma

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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.

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Related Diseases for Skin Amelanotic Melanoma

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 amelanotic melanoma 11.6
2 pyogenic granuloma 10.0
3 charcot-marie-tooth disease, type 4a 9.7 MFN1 FIS1
4 optic atrophy 1 9.5 OPA1 MFN1
5 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.4 MFN1 FIS1
6 cranial nerve disease 9.2 OPA1 MFN1 FIS1
7 optic nerve disease 9.1 OPA1 MFN1 FIS1
8 leber optic atrophy 9.1 OPA1 MFN1 FIS1
9 peripheral nervous system disease 9.1 OPA1 MFN1 FIS1
10 charcot-marie-tooth disease 9.0 OPA1 MFN1 FIS1
11 neuromuscular disease 8.9 OPA1 MFN1 FIS1
12 3-methylglutaconic aciduria, type iii 8.8 OPA1 MFN1 FIS1 CFAP410

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



Diseases related to Skin Amelanotic Melanoma
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Symptoms & Phenotypes for Skin Amelanotic Melanoma

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Drugs & Therapeutics for Skin Amelanotic Melanoma

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Search Clinical Trials , NIH Clinical Center for Skin Amelanotic Melanoma

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Genetic Tests for Skin Amelanotic Melanoma

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Anatomical Context for Skin Amelanotic Melanoma

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MalaCards organs/tissues related to Skin Amelanotic Melanoma:

40
Skin
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Publications for Skin Amelanotic Melanoma

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Variations for Skin Amelanotic Melanoma

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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
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Expression for Skin Amelanotic Melanoma

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

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

# Super pathways Score Top Affiliating Genes
1
Apoptosis and Autophagy 4
11.42 OPA1 COX4I1
2
Glucose / Energy Metabolism 4
11.29 OPA1 MFN1 COX4I1
3
Mitophagy - animal 36
10.77 MFN1 FIS1
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GO Terms for Skin Amelanotic Melanoma

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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
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Sources for Skin Amelanotic Melanoma

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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