Skin Amelanotic Melanoma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Cancer diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:10054

NCIt ⁴⁹ C4633

SNOMED-CT ⁶⁷ 276751004

EFO ¹⁷ EFO_0002894

UMLS ⁷¹ C0349515

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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)

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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:

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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

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Drugs & Therapeutics for Skin Amelanotic Melanoma

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

MalaCards organs/tissues related to Skin Amelanotic Melanoma:

⁴⁰

Skin

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Publications for Skin Amelanotic Melanoma

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Genes for Skin Amelanotic Melanoma

Genes related to Skin Amelanotic Melanoma (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	PTGER1	Prostaglandin E Receptor 1	Protein Coding	5.75	DISEASES inferred ¹⁵
2	PTGER4	Prostaglandin E Receptor 4	Protein Coding	5.21	DISEASES inferred ¹⁵
3	CFAP410	Cilia And Flagella Associated Protein 410	Protein Coding	5.15	DISEASES inferred ¹⁵
4	OPA1	OPA1 Mitochondrial Dynamin Like GTPase	Protein Coding	4.43	DISEASES inferred ¹⁵
5	PTGER3	Prostaglandin E Receptor 3	Protein Coding	4.28	DISEASES inferred ¹⁵
6	FIS1	Fission, Mitochondrial 1	Protein Coding	4.24	DISEASES inferred ¹⁵

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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

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Expression for Skin Amelanotic Melanoma

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

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Pathways for Skin Amelanotic Melanoma

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

#	Super pathways	Score	Top Affiliating Genes
1	Human cytomegalovirus infection ³⁶ Show member pathways Human immunodeficiency virus 1 infection ³⁶ Kaposi sarcoma-associated herpesvirus infection ³⁶	12.34	PTGER4 PTGER3 PTGER1
2	Pathways in cancer ³⁶	12.22	PTGER4 PTGER3 PTGER1
3	Celecoxib Pathway, Pharmacodynamics ⁶⁰	11.2	PTGER4 PTGER3 PTGER1
4	Eicosanoid ligand-binding receptors ⁶⁵ Show member pathways Leukotriene receptors ⁶⁵ Prostanoid ligand receptors ⁶⁵ Small Ligand GPCRs ¹	11.01	PTGER4 PTGER3 PTGER1
5	Prostaglandin Synthesis and Regulation ¹	10.61	PTGER4 PTGER3 PTGER1
6	Ibuprofen Pathway, Pharmacodynamics ⁶⁰	10.25	PTGER4 PTGER3 PTGER1

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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

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Sources for Skin Amelanotic Melanoma

¹ BioSystems

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²⁰ GeneAnalytics

²¹ GeneCards

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

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²⁷ GEO DataSets

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³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

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⁴⁰ MalaCards

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⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁵⁵ Novus Biologicals

⁵⁶ OMIM

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⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia