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 ¹¹ ¹⁴ ⁷¹

Melanotic Schwannoma ¹¹ ⁵

Pigmented Neurilemmoma ¹¹

Pigmented Schwannoma ¹¹

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:3205

NCIt ⁴⁹ C6970

SNOMED-CT ⁶⁸ 253088003

UMLS ⁷¹ C1306247

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Summaries for Melanotic Neurilemmoma

MalaCards based summary: Melanotic Neurilemmoma, also known as melanotic schwannoma, is related to neurilemmoma and cellular schwannoma. An important gene associated with Melanotic Neurilemmoma is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1), and among its related pathways/superpathways are Signal Transduction and GPCR downstream signalling. Affiliated tissues include spinal cord, pancreas and skin, and related phenotypes are Decreased viability and Increased proliferation

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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 238)

#	Related Disease	Score	Top Affiliating Genes
1	neurilemmoma	31.4	SOX10 SMARCB1 PRKAR1A NF2 MLANA
2	cellular schwannoma	30.3	SOX10 SMARCB1 NF2
3	clear cell sarcoma	30.2	SOX10 SMARCB1 MLANA
4	neurofibroma	30.1	SOX10 NF2 MLANA
5	plexiform schwannoma	30.0	SOX10 SMARCB1 NF2
6	neurilemmomatosis	30.0	SOX10 SMARCB1 PRKAR1A NF2
7	malignant choroid melanoma	29.9	MLANA GNAQ GNA11
8	choroid cancer	29.9	MLANA GNAQ GNA11
9	inherited cancer-predisposing syndrome	29.9	SMARCB1 PRKAR1A NF2
10	bap1 tumor predisposition syndrome	29.8	SMARCB1 PRKAR1A NF2
11	melanoma, uveal	29.6	SOX10 MLANA GNAQ GNA11
12	carney complex variant	29.4	PRL PRKAR1B PRKAR1A PRKACB POMC PDE8B
13	meningioma, familial	29.1	SOX10 SMARCB1 PRL PRKAR1A POMC NF2
14	conn's syndrome	27.9	PRL PRKAR1B PRKAR1A PRKACB POMC PDE8B
15	mediastinal melanocytic neurilemmoma	11.2
16	isolated melanotic schwannoma	11.2
17	melanoma	10.6
18	rare tumor	10.5
19	pigmentation anomaly of the skin	10.4
20	peripheral nervous system neoplasm	10.3
21	full schwannomatosis	10.3	SMARCB1 NF2
22	posterior pituitary gland neoplasm	10.3	SMARCB1 NF2
23	childhood meningioma	10.3	SMARCB1 NF2
24	peripheral nerve schwannoma	10.3	SMARCB1 NF2
25	pineal region meningioma	10.3	SMARCB1 NF2
26	cerebral falx meningioma	10.3	SMARCB1 NF2
27	parasagittal meningioma	10.3	SMARCB1 NF2
28	cerebral convexity meningioma	10.3	SMARCB1 NF2
29	optic nerve sheath meningioma	10.3	SMARCB1 NF2
30	schwannomatosis 1	10.3	SMARCB1 NF2
31	olfactory groove meningioma	10.3	SMARCB1 NF2
32	cerebellopontine angle tumor	10.3	SMARCB1 NF2
33	anterior cranial fossa meningioma	10.3	SMARCB1 NF2
34	chordoid meningioma	10.3	SMARCB1 NF2
35	brain meningioma	10.3	SMARCB1 NF2
36	transitional meningioma	10.3	SMARCB1 NF2
37	small intestine leiomyoma	10.3	NF2 MLANA
38	juvenile type testicular granulosa cell tumor	10.3	SMARCB1 MLANA
39	testicular granulosa cell tumor	10.3	SMARCB1 MLANA
40	secretory meningioma	10.3	SMARCB1 NF2
41	conjunctival pigmentation	10.3	SOX10 MLANA
42	optic nerve neoplasm	10.3	SMARCB1 NF2
43	sarcomatoid renal cell carcinoma	10.3	NF2 MLANA
44	rhabdoid meningioma	10.3	SMARCB1 NF2
45	skull base meningioma	10.3	SMARCB1 NF2
46	sarcoid meningitis	10.3	NF2 MLANA
47	spinal canal and spinal cord meningioma	10.3	SMARCB1 NF2
48	spinal meningioma	10.3	SMARCB1 NF2
49	malignant granular cell myoblastoma	10.3	SOX10 MLANA
50	meningothelial meningioma	10.3	SMARCB1 NF2

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

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Symptoms & Phenotypes for Melanotic Neurilemmoma

GenomeRNAi Phenotypes related to Melanotic Neurilemmoma according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00055-A-3	10.1	NF2
2	Decreased viability	GR00221-A-1	10.1	PRKACB PRKAR1A PRKAR1B SMARCB1
3	Decreased viability	GR00221-A-2	10.1	PRKAR1A PRKAR1B SMARCB1
4	Decreased viability	GR00221-A-3	10.1	PRKAR1A PRKAR1B SMARCB1 NF2
5	Decreased viability	GR00221-A-4	10.1	PRKAR1A
6	Decreased viability	GR00249-S	10.1	SMARCB1 NF2
7	Decreased viability	GR00381-A-1	10.1	SMARCB1
8	Increased proliferation	GR00094-A	8.62	NF2 SMARCB1

MGI Mouse Phenotypes related to Melanotic Neurilemmoma:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.96	GNA11 GNAQ NF2 PDE11A POMC PRKACB
2	pigmentation	MP:0001186	9.91	GNA11 GNAQ MLANA NF2 POMC PRKAR1A
3	neoplasm	MP:0002006	9.8	NF2 POMC PRKAR1A PRL SMARCB1 SOX10
4	endocrine/exocrine gland	MP:0005379	9.76	GNA11 GNAQ NF2 PDE11A POMC PRKAR1A
5	behavior/neurological	MP:0005386	9.73	GNA11 GNAQ GPR101 NF2 PDE11A POMC
6	integument	MP:0010771	9.32	GNA11 GNAQ MLANA NF2 POMC 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

Organs/tissues related to Melanotic Neurilemmoma:

MalaCards : Spinal Cord, Pancreas, Skin, Uterus, Ovary, Bone, Brain

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Publications for Melanotic Neurilemmoma

Articles related to Melanotic Neurilemmoma:

(show top 50) (show all 237)

#	Title	Authors	PMID	Year
1	A Rare Case of Melanotic Schwannoma Occurred Intraosseous of Sacrum: A Literature Review. ⁶²	Yan X...Ye Z	36453472	2022
2	Magnetic resonance imaging features and clinical course of malignant melanotic nerve sheath tumors: single institution experience over two decades. ⁶²	Kwok H...Hwang S	36069993	2022
3	Trigeminal Nerve Melanotic Schwannoma in Carney Complex. ⁶²	Sharath KGG...Ravi MR	36177281	2022
4	Primary Mesenchymal Tumors of the Thyroid Gland: A Modern Retrospective Cohort Including the First Case of TFE3-Translocated Malignant Perivascular Epithelioid Cell Tumor (PEComa). ⁶²	Zhang L...Xu B	35218514	2022
5	Malignant melanotic nerve sheath tumors in the spinal canal of psammomatous and non-psammomatous type: Two case reports. ⁶²	Yeom JA...Choi KU	36157803	2022
6	A challenging case of sporadic melanocytoma of the jugular foramen. ⁶²	Donofrio CA...Rutherford SA	34157339	2022
7	A para-aortic malignant melanotic nerve sheath tumor mimicking a gastrointestinal stromal tumor: a rare case report and review of literature. ⁶²	Lin KY...Chiu KY	35902891	2022
8	MET/HGF Coexpression as a Novel Predictive Biomarker for Response to MET Inhibitor Therapy in a Case of Psammomatous Melanotic Schwannoma. ⁶²	Li JJ...Kizilbash SH	35675576	2022
9	Gastrointestinal: Melanotic schwannoma of the pancreas associated with Carney complex: A cause of acute neoplastic symptom. ⁶²	Yokoyama N...Hashidate H	35615762	2022
10	Post-operative Stereotactic Radiosurgery of Malignant Melanotic Schwannoma. ⁶²	Hall JC...Rahimy E	35399431	2022
11	Malignant psammomatous melanotic schwannoma mimicking adrenal cyst: case report. ⁶²	Zlatarov A...Ivanov KD	35818469	2022
12	Retroperitoneal Recurrence of Melanotic Schwannoma on 18F-FDG PET/CT. ⁶²	OuYang X...Zhang X	34560691	2021
13	Cutaneous Melanotic Schwannoma in a Pediatric Patient. ⁶²	Nguyen QD...Greives MR	34743119	2021
14	Dermatological and endocrine elements in Carney complex (Review). ⁶²	Sandru F...Paun DL	34630667	2021
15	Asymptomatic Left Ventricular Malignant Psammomatous Melanotic Schwannoma. ⁶²	Laurin C...Perron J	34401703	2021
16	L3 rootlet recurrent melanocytic schwannoma - case report and literature review. ⁶²	Georgiev GK...Eftimov TN	34196157	2021
17	Can Discord Domain-Containing Receptor 2 Mutation Act as a Disease Modifier for PRKAR1A Associated Melanotic Schwannoma? ⁶²	Roman Hernandez EM...Velayati A	34248546	2021
18	Psammomatous melanotic schwannoma - a rare neck lump. ⁶²	Morgan RV...Quick T	33682474	2021
19	MANAGEMENT OF ENDOCRINE DISEASE: Carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene. ⁶²	Bouys L...Bertherat J	33444222	2021
20	Diagnostic Pathology of Tumors of Peripheral Nerve. ⁶²	Belakhoua SM...Rodriguez FJ	33588442	2021
21	Novel response to neoadjuvant anti-PD1 therapy for a patient with retrocaval melanotic schwannoma. ⁶²	Vining CC...Roggin KK	33323721	2021
22	18F-FDG PET/CT imaging for aggressive melanotic schwannoma of the L3 spinal root: A case report. ⁶²	Shen XZ...Luo ZY	33663098	2021
23	Hemorrhagic spinal melanotic schwannoma presenting as acute chest pain: A case report and literature review. ⁶²	Soyland DJ...Vuong SM	33948334	2021
24	Fine-needle aspiration cytology of melanotic schwannoma in the submandibular gland. ⁶²	Huang YH...Chen CC	32583622	2021
25	Melanotic Schwannoma, a Deceptive Misnomer for a Tumor With Relative Aggressive Behavior: A Series of 7 Cranial and Spinal Cases. ⁶²	Sahay A...Gupta T	32456496	2020
26	Extramedullary malignant melanotic schwannoma of the spine: Case report and an up to date systematic review of the literature. ⁶²	Solomou G...Tzerakis N	33088497	2020
27	Peripheral Nerve Sheath Tumors of Head and Neck: Imaging-Based Review of World Health Organization Classification. ⁶²	Abdel Razek AAK...Elsebaie NA	33196600	2020
28	Clinical characteristics and treatment outcomes of pigmented tumors in central nervous system: Focusing on melanocytic tumors. ⁶²	Lyu L...Jiang S	33222976	2020
29	Primary melanotic tumors of the nervous system: a consecutive case series. ⁶²	Grosshans HK...Karschnia P	32654331	2020
30	Dark as night: Spelunking for spinal solitary fibrous tumors/hemangiopericytomas in the differential of T2 hypointensity. ⁶²	Carlstrom LP...Morris JM	32507710	2020
31	Extramedullary melanotic schwannoma recurrence in the cervical vertebral arch: a case report and review of the literature. ⁶²	Hou Z...Liu X	32809891	2020
32	Intraosseous Melanotic Schwannoma in the Sacrum Mimicking Primary Bone Tumor. ⁶²	Nagashima Y...Hara M	32695557	2020
33	A Rare Case of Hemorrhagic Melanotic Schwannoma in a 38-year-old Female. ⁶²	Biju RD...Hussain Z	33145235	2020
34	Melanotic Schwannoma of the Vulva: A Case Report and Review of the Literature. ⁶²	Cohen JN...LeBoit PE	31268928	2020
35	A Rare Case of Intraspinal Psammomatous Melanotic Schwannoma: A Case Report. ⁶²	Takatori N...Watanabe M	32039305	2020
36	Malign melanotic schwannoma of pancreatic metastasis. ⁶²	Dogan S...Akay E	33425307	2020
37	Brain and spine melanotic schwannoma: A rare occurrence and diagnostic dilemma. ⁶²	Alamer A...Tampieri D	31094649	2019
38	Melanotic Schwannoma: Two Cases of Rare Lesions. ⁶²	Li XL...Dai SD	29740763	2019
39	Intradural Extramedullary Spinal Neoplasms: Radiologic-Pathologic Correlation. ⁶²	Koeller KK...Shih RY	30844353	2019
40	Cutaneous myxomas and a psammomatous melanotic schwannoma in a patient with Carney complex. ⁶²	Sarfo A...Flamm A	30632654	2019
41	Pigmented Melanotic Schwannoma of the Neck: Report of 2 Cases and Review of the Literature. ⁶²	Topf MC...Luginbuhl AJ	30884998	2019
42	Melanotic Schwannoma of the Vagina: A Report of a Very Rare Tumor and Review of the Literature. ⁶²	Effah K...Akakpo PK	31316847	2019
43	Pathology of Melanotic Schwannoma. ⁶²	Alexiev BA...Jennings LJ	29372846	2018
44	Malignant intercostal psammomatous melanotic schwannoma in a patient with Carney complex. ⁶²	Kang YE...Kim HJ	29132201	2018
45	What Tactics Should a Surgeon Choose to Treat a Black Extracerebral Tumor? A Case Report of Psammomatous Melanotic Schwannoma of the Meckel Cave and Literature Review. ⁶²	Moisak GI...Rzaev JA	29715570	2018
46	Melanotic Schwannoma of Spine: Illustration of Two Cases with Diverse Clinical Presentation and Outcome. ⁶²	Chandran RS...Balachandran K	30283573	2018
47	A Rare Case of Melanotic Schwannoma: Utility of Susceptibility Weighted Sequences in Preoperative Imaging. ⁶²	Mubarak F...Nizamani WM	30280064	2018
48	Invasive intramedullary melanotic schwannoma: case report and review of the literature. ⁶²	Cheng X...You C	28695275	2018
49	Intramedullary melanotic schwannoma of the cervical spine: A case report and literature review. ⁶²	Hu L...Wang C	29564131	2018
50	Laparoscopic resection of a giant retroperitoneal melanotic schwannoma. ⁶²	Chatelet F...Chereau N	29599963	2018

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Genes for Melanotic Neurilemmoma

Genes related to Melanotic Neurilemmoma (1 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SMARCB1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1	Protein Coding	405.03	Pathogenic ⁵ DISEASES inferred ¹⁴
2	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	8.42	DISEASES inferred ¹⁴
3	MLANA	Melan-A	Protein Coding	6.94	DISEASES inferred ¹⁴
4	PRKACB	Protein Kinase CAMP-Activated Catalytic Subunit Beta	Protein Coding	6.05	DISEASES inferred ¹⁴
5	PDE11A	Phosphodiesterase 11A	Protein Coding	6.04	DISEASES inferred ¹⁴
6	NF2	NF2, Moesin-Ezrin-Radixin Like (MERLIN) Tumor Suppressor	Protein Coding	5.53	DISEASES inferred ¹⁴
7	SOX10	SRY-Box Transcription Factor 10	Protein Coding	5.52	DISEASES inferred ¹⁴
8	POMC	Proopiomelanocortin	Protein Coding	5.4	DISEASES inferred ¹⁴
9	GPR101	G Protein-Coupled Receptor 101	Protein Coding	5.28	DISEASES inferred ¹⁴
10	GNA11	G Protein Subunit Alpha 11	Protein Coding	5.26	DISEASES inferred ¹⁴
11	PRL	Prolactin	Protein Coding	5.24	DISEASES inferred ¹⁴
12	PDE8B	Phosphodiesterase 8B	Protein Coding	5.2	DISEASES inferred ¹⁴
13	PRKAR1B	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Beta	Protein Coding	5.17	DISEASES inferred ¹⁴
14	GNAQ	G Protein Subunit Alpha Q	Protein Coding	5.14	DISEASES inferred ¹⁴

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Variations for Melanotic Neurilemmoma

ClinVar genetic disease variations for Melanotic Neurilemmoma:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SMARCB1	NM_003073.5(SMARCB1):c.*82C>T	SNV	Pathogenic	239481	rs878854600	GRCh37: 22:24176449-24176449 GRCh38: 22:23834262-23834262

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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:

(show all 41)

#	Super pathways	Score	Top Affiliating Genes
1	Signal Transduction ⁶⁶	13.63	PRKAR1B PRKAR1A PRKACB POMC PDE8B PDE11A
2	GPCR downstream signalling ⁶⁶ Show member pathways G alpha (i) signalling events ⁶⁶ G alpha (q) signalling events ⁶⁶ Signaling by GPCR ⁶⁶	13.48	PRKAR1B PRKAR1A PRKACB POMC PDE8B PDE11A
3	Prolactin Signaling ⁶⁴ Show member pathways Development Prolactin receptor signaling ²² EGFR Inhibitor Pathway, Pharmacodynamics ⁶⁰ EGFR tyrosine kinase inhibitor resistance ⁷⁴ ErbB Family Pathway ⁶⁴ ErbB signaling pathway ⁷⁴ ErbB2-ErbB3 Heterodimers ⁶⁴ ErbB4 Pathway ⁶⁴ Estrogen-stimulated signaling through PRKCZ ⁶⁶ Glioblastoma Multiforme ⁶⁴ Glioblastoma signaling pathways ⁷⁴ Growth Hormone Signaling ⁶⁴ HMGB1 Pathway ⁶⁴ IL-2 Pathway ⁶⁴ LPS Stimulated MAPK Signaling ⁶⁴ PACAP Signaling ⁶⁴ PI3K Signaling in B-Lymphocyte ⁶⁴ TCA cycle nutrient use and invasiveness of ovarian cancer ⁷⁴ Thrombopoietin Pathway ⁶⁴ TREM1 Pathway ⁶⁴ UVA-Induced MAPK Signaling ⁶⁴ UVB-Induced MAPK Signaling ⁶⁴ UVC-Induced MAPK Signaling ⁶⁴	13.38	GNA11 GNAQ NF2 PRKACB PRKAR1A PRKAR1B
4	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet activation, signaling and aggregation ⁶⁶ Platelet degranulation ⁶⁶	13.19	PRKAR1B PRKAR1A PRKACB PDE11A GNAQ GNA11
5	ADORA2B mediated anti-inflammatory cytokines production ⁶⁶ Show member pathways Alpha-Adrenergic Signaling ⁶⁴ Androgen receptor signaling pathway ⁷⁴ Anti-inflammatory response favouring Leishmania parasite infection ⁶⁶ Beta-agonist/Beta-blocker Pathway, Pharmacodynamics ⁶⁰ CD163 mediating an anti-inflammatory response ⁶⁶ Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation ²² G alpha (z) signalling events ⁶⁶ G protein signaling pathways ⁷⁴ Glucagon signaling in metabolic regulation ⁶⁶ GPER1 signaling ⁶⁶ Hedgehog Signaling in Mammals ⁶⁴ Leishmania infection ⁶⁶ Leishmania parasite growth and survival ⁶⁶ LTC4-CYSLTR mediated IL4 production ⁶⁶ Relaxin Pathway ⁶⁴ Signal transduction cAMP signaling ²²	13.17	PRKAR1B PRKAR1A PRKACB PDE8B GNAQ GNA11
6	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴	12.59	PRKAR1B PRKAR1A PRKACB POMC GNA11
7	G-AlphaQ Signaling ⁶⁴ Show member pathways G-AlphaI Signaling ⁶⁴ PAR4-mediated thrombin signaling events ⁶¹ Thrombin Signaling ⁶⁴	12.57	PRKAR1B PRKAR1A PRKACB GNA11
8	Calmodulin induced events ⁶⁶ Show member pathways Ca-dependent events ⁶⁶ CaM pathway ⁶⁶ CaMK IV-mediated phosphorylation of CREB ⁶⁶ Cam-PDE 1 activation ⁶⁶ CREB1 phosphorylation through the activation of CaMKII/CaMKK/CaMKIV cascasde ⁶⁶ DAG and IP3 signaling ⁶⁶ G-protein mediated events ⁶⁶ Opioid Signalling ⁶⁶ PLC beta mediated events ⁶⁶ Signal transduction Calcium signaling ²²	12.57	PRKAR1B PRKAR1A PRKACB POMC GNAQ GNA11
9	TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions ⁶⁵ Show member pathways 14-3-3 Induced Apoptosis ⁶⁴ TNF Superfamily Pathway ⁶⁴ TNFs bind their physiological receptors ⁶⁶ TRAF Pathway ⁶⁴	12.56	PRKAR1B PRKAR1A PRKACB GNAQ GNA11
10	Beta-2 adrenergic-dependent CFTR expression ²² Show member pathways CREB1 phosphorylation through the activation of Adenylate Cyclase ⁶⁶ Development Beta-adrenergic receptors signaling via cAMP ²² Development Role of Activin A in cell differentiation and proliferation ²² FCGR activation ⁶⁶ FCGR3A-mediated IL10 synthesis ⁶⁶ Inhibitory action of Lipoxin A4 on PDGF, EGF and LTD4 signaling ²² Major receptors targeted by epinephrine and norepinephrine ⁷⁴ Neurophysiological process PGE2-induced pain processing ²² PKA activation ⁶⁶ PKA activation in glucagon signalling ⁶⁶ PKA-mediated phosphorylation of CREB ⁶⁶	12.53	GNA11 GNAQ PRKACB PRKAR1A PRKAR1B
11	Myometrial relaxation and contraction pathways ⁷⁴ Show member pathways Calcium regulation in cardiac cells ⁷⁴	12.42	PRKAR1B PRKAR1A PRKACB GNAQ GNA11
12	Integration of energy metabolism ⁶⁶ Show member pathways Acetylcholine regulates insulin secretion ⁶⁶ AMPK inhibits chREBP transcriptional activation activity ⁶⁶ ChREBP activates metabolic gene expression ⁶⁶ Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion ⁶⁶ Free fatty acids regulate insulin secretion ⁶⁶ Glucagon-like Peptide-1 (GLP1) regulates insulin secretion ⁶⁶ Intracellular metabolism of fatty acids regulates insulin secretion ⁶⁶ PKA-mediated phosphorylation of key metabolic factors ⁶⁶ PP2A-mediated dephosphorylation of key metabolic factors ⁶⁶ Regulation of insulin secretion ⁶⁶ Saturated fatty acid biosynthesis ²²	12.39	PRKAR1B PRKAR1A PRKACB GNAQ GNA11
13	Neuroscience ³	12.38	PRKAR1B PRKAR1A POMC NF2 GNAQ GNA11
14	Development A3 receptor signaling ²² Show member pathways Development A1 receptor signaling ²² G-protein signaling G-Protein alpha-q signaling cascades ²²	12.18	GNA11 GNAQ PRKACB PRKAR1A PRKAR1B
15	Apoptosis and survival BAD phosphorylation ²² Show member pathways BAD Phosphorylation ⁶⁴	12.12	GNA11 PRKACB PRKAR1A PRKAR1B
16	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	12.08	PRKAR1B PRKAR1A PRKACB
17	Colorectal Cancer Metastasis ⁶⁴	12.08	PRKAR1B PRKAR1A PRKACB
18	Sudden infant death syndrome (SIDS) susceptibility pathways ⁷⁴	12.06	PRKAR1B PRKAR1A PRKACB
19	AMPK Enzyme Complex Pathway ⁶⁴ Show member pathways Chromatin Remodeling ⁶⁴	12.02	SMARCB1 PRKAR1B PRKAR1A PRKACB GNA11
20	Ca, cAMP and Lipid Signaling ³	11.96	PRKAR1B PRKAR1A GNAQ GNA11
21	Aquaporin-mediated transport ⁶⁶ Show member pathways Passive transport by Aquaporins ⁶⁶ Transport of glycerol from adipocytes to the liver by Aquaporins ⁶⁶ Vasopressin regulates renal water homeostasis via Aquaporins ⁶⁶	11.88	PRKAR1B PRKAR1A PRKACB
22	G alpha (s) signalling events ⁶⁶ Show member pathways Defective ACTH causes obesity and POMCD ⁶⁶	11.84	PRKAR1B PRKAR1A PRKACB POMC PDE8B PDE11A
23	Development A2B receptor- action via G-protein alpha s ²² Show member pathways Development A2A receptor signaling ²²	11.81	GNA11 GNAQ PRKACB PRKAR1A PRKAR1B
24	Corticotropin-releasing hormone signaling pathway ⁷⁴	11.8	GNA11 GNAQ POMC
25	Signal transduction_PKA signaling ²²	11.77	PRKAR1B PRKAR1A PRKACB
26	Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling ²² Show member pathways DARPP-32 events ⁶⁶	11.73	PRKAR1B PRKAR1A PRKACB GNAQ
27	Signal transduction_Erk Interactions- Inhibition of Erk ²²	11.69	PRKAR1B PRKAR1A PRKACB
28	G-protein signaling_RhoA regulation pathway ²²	11.64	GNA11 GNAQ PRKACB PRKAR1A PRKAR1B
29	Development_Leptin signaling via PI3K-dependent pathway ²²	11.53	PRKAR1B PRKAR1A PRKACB
30	Netrin Signaling ⁶⁴	11.5	PRKAR1B PRKAR1A PRKACB
31	NgR-p75(NTR)-Mediated Signaling ⁶⁴	11.47	PRKAR1B PRKAR1A PRKACB
32	miRs in Muscle Cell Differentiation ⁷⁴	11.31	PRKAR1B PRKAR1A PRKACB
33	Alpha4 beta1 integrin signaling events ⁶¹	11.3	PRKAR1B PRKAR1A PRKACB
34	14-3-3 and Regulation of BAD Activity ⁶⁴	11.26	PRKAR1B PRKAR1A PRKACB
35	Transcription_CREM signaling in testis ²²	11.05	PRKAR1B PRKAR1A PRKACB
36	PKC-gamma calcium signaling pathway in ataxia ⁷⁴	11	GNAQ GNA11
37	GPR143 in melanocytes and retinal pigment epithelium cells ⁷⁴	11	PRKACB POMC MLANA GNAQ
38	Cannabinoid receptor signaling ⁷⁴ Show member pathways anandamide degradation ⁶¹	10.99	PRKAR1B PRKAR1A PRKACB
39	Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics ⁶⁰	10.97	PRL POMC
40	Melanocyte Development and Pigmentation ⁶⁴	10.97	SOX10 PRKAR1B PRKAR1A PRKACB POMC
41	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	10.61	PRKAR1B PRKAR1A PRKACB GNAQ GNA11

Sources

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	ciliary base	GO:0097546	9.43	PRKAR1B PRKAR1A PRKACB
2	cAMP-dependent protein kinase complex	GO:0005952	9.1	PRKAR1B PRKAR1A PRKACB

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

#	Name	GO ID	Score	Top Affiliating Genes
1	signal transduction	GO:0007165	10.18	PRL PRKACB POMC PDE8B PDE11A GPR101
2	G protein-coupled acetylcholine receptor signaling pathway	GO:0007213	9.73	GNAQ GNA11
3	negative regulation of protein kinase activity	GO:0006469	9.72	GNAQ NF2 PRKAR1A
4	negative regulation of cAMP-dependent protein kinase activity	GO:2000480	9.71	PRKAR1B PRKAR1A
5	phototransduction, visible light	GO:0007603	9.56	GNAQ GNA11
6	negative regulation of Schwann cell proliferation	GO:0010626	9.46	SOX10 NF2
7	adenylate cyclase-modulating G protein-coupled receptor signaling pathway	GO:0007188	9.43	PRKACB GNAQ GNA11
8	entrainment of circadian clock	GO:0009649	8.92	GNAQ GNA11

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

#	Name	GO ID	Score	Top Affiliating Genes
1	G protein-coupled receptor binding	GO:0001664	9.73	POMC GNAQ GNA11
2	protein kinase A catalytic subunit binding	GO:0034236	9.62	PRKAR1B PRKAR1A
3	cAMP-dependent protein kinase inhibitor activity	GO:0004862	9.46	PRKAR1B PRKAR1A
4	guanyl nucleotide binding	GO:0019001	8.96	GNAQ GNA11
5	cAMP-dependent protein kinase regulator activity	GO:0008603	8.92	PRKAR1B PRKAR1A

Sources

Sources for Melanotic Neurilemmoma

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: MLN009 MIFTS: 36	Melanotic Neurilemmoma Categories: Cancer diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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