Melanotic Neurilemmoma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Melanotic Neurilemmoma

MalaCards integrated aliases for Melanotic Neurilemmoma:

Name: Melanotic Neurilemmoma ¹² ¹⁵ ⁷³

Pigmented Neurilemmoma ¹²

Melanotic Schwannoma ¹²

Pigmented Schwannoma ¹²

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:3205

NCIt ⁵⁰ C6970

SNOMED-CT ⁶⁸ 985004

UMLS ⁷³ C1306247

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Summaries for Melanotic Neurilemmoma

MalaCards based summary : Melanotic Neurilemmoma, also known as pigmented neurilemmoma, is related to carney complex variant and carney complex, type 1. An important gene associated with Melanotic Neurilemmoma is PRKAR1A (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha), and among its related pathways/superpathways are ADP signalling through P2Y purinoceptor 12 and Delta508-CFTR traffic / ER-to-Golgi in CF.

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Related Diseases for Melanotic Neurilemmoma

Diseases related to Melanotic Neurilemmoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)

#	Related Disease	Score	Top Affiliating Genes
1	carney complex variant	32.2	MYH8 PRKAR1A
2	carney complex, type 1	11.5
3	mediastinal melanocytic neurilemmoma	11.3
4	neurilemmoma	10.6
5	melanoma	10.1
6	tièche-jadassohn nevus	10.1
7	myositis	10.0
8	sarcoma	10.0
9	clear cell sarcoma	10.0
10	myositis ossificans	10.0
11	intracranial hypertension	10.0
12	ring chromosome 11	10.0
13	nevus of ota	10.0

Graphical network of the top 20 diseases related to Melanotic Neurilemmoma:

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Symptoms & Phenotypes for Melanotic Neurilemmoma

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Drugs & Therapeutics for Melanotic Neurilemmoma

Search Clinical Trials , NIH Clinical Center for Melanotic Neurilemmoma

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Genetic Tests for Melanotic Neurilemmoma

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Anatomical Context for Melanotic Neurilemmoma

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Publications for Melanotic Neurilemmoma

Articles related to Melanotic Neurilemmoma:

#	Title	Authors	Year
1	Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome. ( 22281088 )	Venturini G....Rivolta C.	2012

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Genes for Melanotic Neurilemmoma

Genes related to Melanotic Neurilemmoma (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	17.02	DISEASES inferred ¹⁵
2	SIL1	SIL1 Nucleotide Exchange Factor	Protein Coding	15.52	DISEASES inferred ¹⁵
3	MYH8	Myosin Heavy Chain 8	Protein Coding	15.48	DISEASES inferred ¹⁵
4	ASMTL	Acetylserotonin O-Methyltransferase Like	Protein Coding	14.94	DISEASES inferred ¹⁵
5	SLC9A3R1	SLC9A3 Regulator 1	Protein Coding	14.56	DISEASES inferred ¹⁵

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Variations for Melanotic Neurilemmoma

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Expression for Melanotic Neurilemmoma

Search GEO for disease gene expression data for Melanotic Neurilemmoma.

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Pathways for Melanotic Neurilemmoma

Pathways related to Melanotic Neurilemmoma according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	ADP signalling through P2Y purinoceptor 12 ⁶⁶ Show member pathways Adrenaline,noradrenaline inhibits insulin secretion ⁶⁶ Beta-agonist/Beta-blocker Pathway, Pharmacodynamics ⁶¹ Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding ⁶⁶ G alpha (z) signalling events ⁶⁶ G-protein activation ⁶⁶ Signal transduction cAMP signaling ²²	11.76	PRKAR1A SLC9A3R1
2	Delta508-CFTR traffic / ER-to-Golgi in CF ²² Show member pathways Normal wtCFTR traffic / ER-to-Golgi ²² RHO GTPases regulate CFTR trafficking ⁶⁶ Transport Clathrin-coated vesicle cycle ²² wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF) ²² wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) ²²	11.58	PRKAR1A SLC9A3R1
3	Tight junction ³⁷	11.19	MYH8 SLC9A3R1
4	Regulation of CFTR activity (norm and CF) ²² Show member pathways Regulation of CFTR gating (normal and CF) ²² wtCFTR and deltaF508 traffic / Membrane expression (norm and CF) ²²	10.84	PRKAR1A SLC9A3R1

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GO Terms for Melanotic Neurilemmoma

Biological processes related to Melanotic Neurilemmoma according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of protein kinase activity	GO:0045859	8.62	PRKAR1A SLC9A3R1

Molecular functions related to Melanotic Neurilemmoma according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein domain specific binding	GO:0019904	8.62	PRKAR1A SLC9A3R1

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Sources for Melanotic Neurilemmoma

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⁷⁶ Wikipedia