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 ⁷⁴

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 ⁵¹ C6970

SNOMED-CT ⁶⁹ 985004

UMLS ⁷⁴ C1306247

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Summaries for Melanotic Neurilemmoma

MalaCards based summary : Melanotic Neurilemmoma, also known as pigmented neurilemmoma, is related to neurilemmoma and carney complex variant. 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 Development A3 receptor signaling and Neuroscience. Affiliated tissues include lung, small intestine and skin, and related phenotypes are homeostasis/metabolism and behavior/neurological

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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 top 50) (show all 104)

#	Related Disease	Score	Top Affiliating Genes
1	neurilemmoma	30.9	ENO2 GFAP KIT NF2 PRKAR1A
2	carney complex variant	11.7
3	carney complex, type 1	11.5
4	mediastinal melanocytic neurilemmoma	11.3
5	melanomatosis	10.4	GNA11 GNAQ
6	phakomatosis cesioflammea	10.4	GNA11 GNAQ
7	foramen magnum meningioma	10.4	GNA11 NF2
8	meningothelial meningioma	10.3	ENO2 NF2
9	malignant conjunctival melanoma	10.3	GNA11 GNAQ
10	melanoma	10.3
11	cerebral convexity meningioma	10.3	GFAP NF2
12	intraventricular meningioma	10.3	GFAP NF2
13	mongolian spot	10.3	ADAMTS1 ENO2 GNAQ
14	epithelioid neurofibroma	10.3	CD34 DSP
15	conjunctival cancer	10.3	GNA11 GNAQ
16	rhabdoid meningioma	10.3	GFAP NF2
17	intracranial cysts	10.3	ENO2 GFAP
18	primitive neuroectodermal tumor of the cervix uteri	10.2	ENO2 GFAP
19	cutaneous ganglioneuroma	10.2	ENO2 KIT
20	melanotic medulloblastoma	10.2	ENO2 GFAP
21	cornea cancer	10.2	GFAP NF2
22	meningeal melanomatosis	10.2	ENO2 GNA11 GNAQ
23	psammomatous meningioma	10.2	CD34 NF2
24	gastric leiomyosarcoma	10.2	ENO2 KIT
25	trigeminal nerve neoplasm	10.2	GFAP NF2 PRKAR1A
26	neurilemmoma of the fifth cranial nerve	10.2	GFAP NF2 PRKAR1A
27	lung meningioma	10.2	CD34 ENO2
28	gallbladder melanoma	10.2	MLANA PMEL
29	spinal cancer	10.2	GFAP NF2
30	cerebellar medulloblastoma	10.2	ENO2 GFAP
31	cellular ependymoma	10.2	GFAP RELA
32	pigmented basal cell carcinoma	10.2	MLANA TYR
33	central nervous system primitive neuroectodermal neoplasm	10.2	ENO2 GFAP
34	endometrial small cell carcinoma	10.2	ENO2 KIT
35	gallbladder leiomyoma	10.2	CD34 KIT
36	lung leiomyosarcoma	10.2	CD34 KIT
37	clear cell ependymoma	10.2	ENO2 GFAP
38	mucosal melanoma	10.2	GNA11 GNAQ KIT
39	liver leiomyoma	10.2	CD34 KIT
40	cerebral neuroblastoma	10.2	ENO2 GFAP
41	extracutaneous mastocytoma	10.2	CD34 KIT
42	tièche-jadassohn nevus	10.2
43	small intestine leiomyosarcoma	10.2	CD34 KIT
44	small intestinal sarcoma	10.2	CD34 KIT
45	malignant anus melanoma	10.1	KIT MLANA
46	benign ependymoma	10.1	ENO2 GFAP NF2
47	vitiligo-associated multiple autoimmune disease susceptibility 6	10.1	PMEL TYR
48	gallbladder sarcoma	10.1	CD34 KIT
49	prostate leiomyosarcoma	10.1	CD34 KIT
50	subependymal glioma	10.1	ENO2 GFAP

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

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Symptoms & Phenotypes for Melanotic Neurilemmoma

MGI Mouse Phenotypes related to Melanotic Neurilemmoma:

⁴⁷ (show all 13)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.27	ADAMTS1 CCNG1 CD34 GFAP GNA11 GNAQ
2	behavior/neurological	MP:0005386	10.22	ENO2 GFAP GNA11 GNAQ KIT NF2
3	growth/size/body region	MP:0005378	10.22	ADAMTS1 DSP ENO2 GFAP GNA11 GNAQ
4	mortality/aging	MP:0010768	10.22	ADAMTS1 CCNG1 DSP GFAP GNA11 GNAQ
5	integument	MP:0010771	10.17	CD34 DSP GNA11 GNAQ KIT MLANA
6	craniofacial	MP:0005382	10.11	DSP ENO2 GNA11 GNAQ KIT NF2
7	digestive/alimentary	MP:0005381	10.04	CCNG1 DSP GFAP KIT PRKAR1A RELA
8	nervous system	MP:0003631	10	DSP ENO2 GFAP GNA11 GNAQ KIT
9	muscle	MP:0005369	9.91	DSP GFAP GNA11 GNAQ KIT PRKAR1A
10	neoplasm	MP:0002006	9.8	CCNG1 CD34 KIT NF2 PRKAR1A TYR
11	pigmentation	MP:0001186	9.7	GNA11 GNAQ KIT MLANA PMEL PRKAR1A
12	renal/urinary system	MP:0005367	9.5	ADAMTS1 GNA11 GNAQ KIT NF2 SLC9A3R1
13	respiratory system	MP:0005388	9.17	ENO2 GNA11 GNAQ KIT NF2 PRKAR1A

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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

MalaCards organs/tissues related to Melanotic Neurilemmoma:

⁴²

Lung, Small Intestine, Skin, Liver, Heart, Breast, Ovary

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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):

(show all 20)

- 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	17.08	DISEASES inferred ¹⁵
2	SIL1	SIL1 Nucleotide Exchange Factor	Protein Coding	15.56	DISEASES inferred ¹⁵
3	ASMTL	Acetylserotonin O-Methyltransferase Like	Protein Coding	15.02	DISEASES inferred ¹⁵
4	MYH8	Myosin Heavy Chain 8	Protein Coding	14.84	DISEASES inferred ¹⁵
5	SLC9A3R1	SLC9A3 Regulator 1	Protein Coding	14.63	DISEASES inferred ¹⁵
6	ADAMTS1	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 1	Protein Coding	14.53	DISEASES inferred ¹⁵
7	NF2	Neurofibromin 2	Protein Coding	14.39	DISEASES inferred ¹⁵
8	GNAQ	G Protein Subunit Alpha Q	Protein Coding	14.33	DISEASES inferred ¹⁵
9	DSP	Desmoplakin	Protein Coding	14.21	DISEASES inferred ¹⁵
10	GNA11	G Protein Subunit Alpha 11	Protein Coding	14.18	DISEASES inferred ¹⁵
11	TYR	Tyrosinase	Protein Coding	14.12	DISEASES inferred ¹⁵
12	ENO2	Enolase 2	Protein Coding	14.04	DISEASES inferred ¹⁵
13	PMEL	Premelanosome Protein	Protein Coding	14	DISEASES inferred ¹⁵
14	RELA	RELA Proto-Oncogene, NF-KB Subunit	Protein Coding	13.75	DISEASES inferred ¹⁵
15	KIT	KIT Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	13.63	DISEASES inferred ¹⁵
16	GFAP	Glial Fibrillary Acidic Protein	Protein Coding	13.22	DISEASES inferred ¹⁵
17	MLANA	Melan-A	Protein Coding	5.91	DISEASES inferred ¹⁵
18	CCNG1	Cyclin G1	Protein Coding	4.99	DISEASES inferred ¹⁵
19	RPS13	Ribosomal Protein S13	Protein Coding	4.79	DISEASES inferred ¹⁵
20	CD34	CD34 Molecule	Protein Coding	4.19	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	Development A3 receptor signaling ²³ Show member pathways Development A1 receptor signaling ²³ G-protein signaling G-Protein alpha-q signaling cascades ²³	12	GNA11 GNAQ PRKAR1A RELA
2	Neuroscience ⁴	11.7	ENO2 GFAP GNA11 GNAQ NF2 PRKAR1A
3	Parathyroid hormone synthesis, secretion and action ³⁸	11.66	GNA11 GNAQ SLC9A3R1
4	Amoebiasis ³⁸	11.59	GNA11 GNAQ RELA
5	Corticotropin-releasing hormone signaling pathway ¹	11.55	GNA11 GNAQ RELA
6	Development A2B receptor- action via G-protein alpha s ²³ Show member pathways Development A2A receptor signaling ²³	11.35	GNA11 GNAQ PRKAR1A RELA
7	LPA receptor mediated events ¹	11.31	GNA11 GNAQ RELA
8	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²³	11.02	GNA11 GNAQ PRKAR1A
9	CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) ²³	10.88	GNA11 GNAQ SLC9A3R1

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GO Terms for Melanotic Neurilemmoma

Cellular components related to Melanotic Neurilemmoma according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	9.5	CCNG1 CD34 DSP ENO2 GFAP GNA11
2	melanosome	GO:0042470	9.13	MLANA PMEL TYR
3	membrane	GO:0016020	10.03	ADAMTS1 CD34 DSP ENO2 GFAP GNA11

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

#	Name	GO ID	Score	Top Affiliating Genes
1	action potential	GO:0001508	9.46	GNA11 GNAQ
2	intermediate filament organization	GO:0045109	9.43	DSP GFAP
3	negative regulation of protein kinase activity	GO:0006469	9.43	GNAQ NF2 PRKAR1A
4	G protein-coupled acetylcholine receptor signaling pathway	GO:0007213	9.4	GNA11 GNAQ
5	melanin biosynthetic process	GO:0042438	9.37	PMEL TYR
6	developmental pigmentation	GO:0048066	9.32	GNA11 KIT
7	phototransduction, visible light	GO:0007603	9.16	GNA11 GNAQ
8	entrainment of circadian clock	GO:0009649	8.96	GNA11 GNAQ
9	phospholipase C-activating dopamine receptor signaling pathway	GO:0060158	8.62	GNA11 SLC9A3R1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	guanyl nucleotide binding	GO:0019001	8.96	GNA11 GNAQ
2	type 2A serotonin receptor binding	GO:0031826	8.62	GNA11 GNAQ

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