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

MCID: MCS004 MIFTS: 47	Mucosal Melanoma Categories: Cancer diseases, Skin diseases
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Aliases & Classifications for Mucosal Melanoma

MalaCards integrated aliases for Mucosal Melanoma:

Name: Mucosal Melanoma ¹² ¹⁵ ⁷³

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0050929

UMLS ⁷³ C3898222

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Summaries for Mucosal Melanoma

Disease Ontology : ¹² A melanoma that has material basis in melanocytes located in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract.

MalaCards based summary : Mucosal Melanoma is related to malignant skin fibrous histiocytoma and melanoma. An important gene associated with Mucosal Melanoma is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), and among its related pathways/superpathways are Phospholipase-C Pathway and fMLP Pathway. The drugs Carboplatin and Paclitaxel have been mentioned in the context of this disorder. Affiliated tissues include mucosal membranes lining the respiratory, endothelial and lung, and related phenotypes are endocrine/exocrine gland and growth/size/body region

Wikipedia : ⁷⁶ Mucosal melanoma is a rare cutaneous condition characterized by a melanoma of the mucous... more...

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Related Diseases for Mucosal Melanoma

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

(show top 50) (show all 73)

#	Related Disease	Score	Top Affiliating Genes
1	malignant skin fibrous histiocytoma	30.1	KIT NRAS
2	melanoma	29.6	BRAF MAGEC1 MITF NRAS
3	skin melanoma	25.9	BRAF GNA11 GNAQ KIT MITF NRAS
4	mucositis	10.7
5	ovarian melanoma	10.6	KIT NRAS
6	amelanotic melanoma	10.6	BRAF KIT
7	conventional fibrosarcoma	10.6	KIT NRAS
8	erdheim-chester disease	10.5	BRAF NRAS
9	congenital mesoblastic nephroma	10.5	KIT NRAS
10	core binding factor acute myeloid leukemia	10.4	KIT NRAS
11	malignant dermis tumor	10.4	KIT NRAS
12	phakomatosis cesioflammea	10.4	GNA11 GNAQ
13	intraocular melanoma	10.4	GNA11 GNAQ
14	spermatocytoma	10.4	KIT MAGEC1
15	plexiform schwannoma	10.3	KIT NF1
16	pilocytic astrocytoma of cerebellum	10.2	BRAF NF1
17	neurofibromatosis, type i	10.2	KIT NF1
18	leopard syndrome	10.2	BRAF NF1
19	myelodysplastic myeloproliferative cancer	10.2	NF1 NRAS
20	pulmonic stenosis	10.1	BRAF NF1
21	sensory system cancer	10.1	GNA11 GNAQ
22	cutaneous ganglioneuroma	10.1	KIT MITF
23	breast angiosarcoma	10.0	KIT MITF
24	malignant conjunctival melanoma	10.0	GNA11 GNAQ NRAS
25	melanomatosis	10.0	GNA11 GNAQ NRAS
26	conjunctival cancer	10.0	GNA11 GNAQ NRAS
27	meningeal melanomatosis	10.0	GNA11 GNAQ NRAS
28	meningeal melanocytoma	10.0	GNA11 GNAQ NRAS
29	sinusitis	10.0
30	gastric adenocarcinoma	10.0	BRAF KIT NRAS
31	dowling-degos disease 1	10.0	KIT MITF
32	neurilemmoma	10.0	KIT NF1
33	myeloma, multiple	9.9	BRAF MAGEC1 NRAS
34	gastrointestinal stromal tumor	9.9	BRAF KIT NF1
35	noonan syndrome 1	9.8	BRAF NF1 NRAS
36	organ system benign neoplasm	9.8	KIT NF1
37	angiomyolipoma	9.8	KIT MITF
38	juvenile myelomonocytic leukemia	9.8	BRAF NF1 NRAS
39	piebald trait	9.8	KIT MITF
40	lung cancer susceptibility 3	9.7	BRAF NRAS TERT
41	nervous system cancer	9.7	GNA11 GNAQ NF1
42	mast cell disease	9.7	KIT MITF
43	cell type cancer	9.6	KIT MITF NRAS
44	li-fraumeni syndrome	9.6
45	psoriasis 2	9.6
46	psoriasis 7	9.6
47	li-fraumeni syndrome 2	9.6
48	psoriasis 11	9.6
49	psoriasis 13	9.6
50	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	9.6

Graphical network of the top 20 diseases related to Mucosal Melanoma:

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Symptoms & Phenotypes for Mucosal Melanoma

MGI Mouse Phenotypes related to Mucosal Melanoma:

⁴⁶ (show all 23)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland	MP:0005379	10.19	GNAQ GNA11 BRAF NF1 MITF KIT
2	growth/size/body region	MP:0005378	10.18	BRAF GNAQ GNA11 MITF KIT NF1
3	behavior/neurological	MP:0005386	10.16	BRAF GNA11 MITF KIT GNAQ NRAS
4	hematopoietic system	MP:0005397	10.16	GNAQ GNA11 BRAF KIT NF1 MITF
5	homeostasis/metabolism	MP:0005376	10.15	BRAF GNAQ GNA11 MITF KIT NRAS
6	craniofacial	MP:0005382	10.14	GNAQ GNA11 BRAF NF1 MITF KIT
7	immune system	MP:0005387	10.14	GNAQ GNA11 BRAF KIT NF1 MITF
8	cardiovascular system	MP:0005385	10.08	GNA11 BRAF KIT GNAQ NRAS NF1
9	mortality/aging	MP:0010768	10.08	BRAF GNAQ GNA11 MITF KIT NRAS
10	integument	MP:0010771	10.07	GNAQ GNA11 BRAF KIT NF1 MITF
11	hearing/vestibular/ear	MP:0005377	10.04	GNAQ GNA11 BRAF KIT NF1 MITF
12	digestive/alimentary	MP:0005381	9.99	BRAF KIT TERT NRAS NF1
13	limbs/digits/tail	MP:0005371	9.99	GNAQ GNA11 KIT NF1 MITF NRAS
14	normal	MP:0002873	9.97	GNAQ GNA11 BRAF NF1 MITF KIT
15	nervous system	MP:0003631	9.95	BRAF GNA11 MITF KIT GNAQ TERT
16	liver/biliary system	MP:0005370	9.89	GNA11 BRAF KIT NRAS NF1
17	pigmentation	MP:0001186	9.87	GNAQ GNA11 BRAF NF1 MITF KIT
18	muscle	MP:0005369	9.85	GNA11 BRAF KIT GNAQ NF1
19	neoplasm	MP:0002006	9.83	BRAF KIT NRAS NF1 TERT
20	renal/urinary system	MP:0005367	9.65	GNA11 BRAF KIT GNAQ NF1
21	respiratory system	MP:0005388	9.63	GNAQ GNA11 BRAF KIT NF1 TERT
22	skeleton	MP:0005390	9.56	GNAQ GNA11 BRAF NF1 MITF KIT
23	vision/eye	MP:0005391	9.02	BRAF MITF KIT NRAS NF1

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Drugs & Therapeutics for Mucosal Melanoma

Drugs for Mucosal Melanoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 66)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Carboplatin

Approved

Phase 3,Phase 2

41575-94-4

10339178 498142 38904

Paclitaxel

Approved, Vet_approved

Phase 3,Phase 2

33069-62-4

36314

Sorafenib

Approved, Investigational

Phase 3

284461-73-0

216239 406563

Pembrolizumab

Approved

Phase 3,Phase 2,Phase 1

1374853-91-4

Folic Acid

Approved, Nutraceutical, Vet_approved

Phase 3

59-30-3

6037

Niacin

Approved, Investigational, Nutraceutical

Phase 3

59-67-6

938

Nicotinamide

Approved, Investigational, Nutraceutical

Phase 3

98-92-0

936

Albumin-Bound Paclitaxel

Phase 3,Phase 2

Antimitotic Agents

Phase 3,Phase 2

Antineoplastic Agents, Phytogenic

Phase 3,Phase 2

Micronutrients

Phase 3

Nicotinic Acids

Phase 3

Protein Kinase Inhibitors

Phase 3,Phase 2

Trace Elements

Phase 3

Vitamin B Complex

Phase 3

Vitamins

Phase 3

Antibodies

Phase 3,Phase 2

Immunoglobulins

Phase 3,Phase 2

Antibodies, Monoclonal

Phase 3,Phase 2

Anti-Infective Agents

Phase 3,Phase 2

Antiviral Agents

Phase 3,Phase 2

Interferon-alpha

Phase 3,Phase 2

interferons

Phase 3,Phase 2,Phase 1

Folate

Nutraceutical

Phase 3

Vitamin B3

Nutraceutical

Phase 3

Vitamin B9

Nutraceutical

Phase 3

Sunitinib

Approved, Investigational

Phase 2

341031-54-7, 557795-19-4

5329102

nivolumab

Approved

Phase 2

946414-94-4

Bevacizumab

Approved, Investigational

Phase 2

216974-75-3

Aldesleukin

Approved

Phase 2

85898-30-2, 110942-02-4

Dasatinib

Approved, Investigational

Phase 2

302962-49-8

3062316

Menthol

Approved

Phase 2

2216-51-5

16666

Everolimus

Approved

Phase 2

159351-69-6

6442177

Miconazole

Approved, Investigational, Vet_approved

Phase 2

22916-47-8

4189

Sirolimus

Approved, Investigational

Phase 2

53123-88-9

5284616 6436030 46835353

Serine

Approved, Nutraceutical

Phase 2

56-45-1

5951

Imatinib Mesylate

Phase 2

220127-57-1

123596

Angiogenesis Inhibitors

Phase 2

Angiogenesis Modulating Agents

Phase 2

Vaccines

Phase 2,Phase 1

Adjuvants, Immunologic

Phase 2

Freund's Adjuvant

Phase 2,Phase 1

Interferon Inducers

Phase 1, Phase 2,Phase 2

Poly ICLC

Phase 1, Phase 2,Phase 2

Analgesics

Phase 2

Analgesics, Non-Narcotic

Phase 2

Anti-HIV Agents

Phase 2

Anti-Retroviral Agents

Phase 2

Interleukin-2

Phase 2

Peripheral Nervous System Agents

Phase 2

Interventional clinical trials:

(show all 36)

#	Name	Status	NCT ID	Phase	Drugs
1	Carboplatin and Paclitaxel With or Without Sorafenib Tosylate in Treating Patients With Stage III or Stage IV Melanoma That Cannot Be Removed by Surgery	Completed	NCT00110019	Phase 3	Carboplatin;Paclitaxel;Sorafenib Tosylate
2	HDI Versus Chemotherapy as Systemic Adjuvant Therapy for Resected Mucosal Melanoma	Recruiting	NCT03435302	Phase 3	Temozolomide Plus Cisplatin;High-Dose IFN-a2b
3	High-Dose Recombinant Interferon Alfa-2B, Ipilimumab, or Pembrolizumab in Treating Patients With Stage III-IV High Risk Melanoma That Has Been Removed by Surgery	Active, not recruiting	NCT02506153	Phase 3
4	A Trial Looking at Nilotinib to Treat Acral and Mucosal Melanoma Skin Cancer That Has Spread	Completed	NCT01395121	Phase 2	nilotinib
5	Imatinib in Patients With Mucosal or Acral/Lentiginous Melanoma	Completed	NCT00424515	Phase 2	Imatinib
6	Trial of Imatinib (Gleevec®) in Selected Patients With Metastatic Melanoma	Completed	NCT00881049	Phase 2	Imatinib (Gleevec)
7	SU011248 in Patients With Metastatic Mucosal or Acral/Lentiginous Melanoma	Completed	NCT00577382	Phase 2	Sunitinib
8	Study of Nilotinib in Metastatic Melanoma With KIT Aberrations	Completed	NCT01099514	Phase 2	Nilotinib
9	THE IPI - Trial in Advanced Melanoma: Melanoma Patients With Advanced Disease	Completed	NCT01355120	Phase 2	Ipilimumab
10	Epacadostat and Vaccine Therapy in Treating Patients With Stage III-IV Melanoma	Completed	NCT01961115	Phase 2	Epacadostat
11	Vaccine Therapy in Treating Patients With Stage IIC-IV Melanoma	Completed	NCT00085189	Phase 2	Montanide ISA 51 VG;agatolimod sodium
12	The Study of JS001 Compared to High-Dose Interferon In Patients With Mucosal Melanoma That Has Been Removed by Surgery	Recruiting	NCT03178123	Phase 2
13	Mucosal Melanoma of Head and Neck in Intensity-modulated Radiotherapy Era	Recruiting	NCT03138642	Phase 2
14	Ipilimumab and Nivolumab as Adjuvant Treatment of Mucosal Melanoma	Recruiting	NCT03241186	Phase 2	Ipilimumab;Nivolumab;Nivolumab
15	PLX3397 KIT in Acral aNd mucOsal Melanoma	Recruiting	NCT02071940	Phase 2	PLX3397
16	Bevacizumab Combined With Carboplatin Plus Paclitaxel Chemotherapy to Treat Metastatic Mucosal Melanoma	Recruiting	NCT02023710	Phase 2	Paclitaxel;Carboplatin;Bevacizumab
17	Phase I/II Trial of a Long Peptide Vaccine (LPV7) Plus TLR Agonists	Recruiting	NCT02126579	Phase 1, Phase 2
18	Evaluate Efficacy, Immunological Response of Intratumoral/Intralesional Oncolytic Virus (OBP-301) in Metastatic Melanoma Patients	Recruiting	NCT03190824	Phase 2	OBP-301
19	Aldesleukin and Pembrolizumab in Treating Patients With Stage III-IV Melanoma	Recruiting	NCT02748564	Phase 2
20	Dasatinib in Treating Patients With Locally Advanced or Metastatic Mucosal Melanoma, Acral Melanoma, or Vulvovaginal Melanoma That Cannot Be Removed By Surgery	Active, not recruiting	NCT00700882	Phase 2	dasatinib
21	Nab-Paclitaxel and Bevacizumab or Ipilimumab as First-Line Therapy in Treating Patients With Stage IV Melanoma That Cannot Be Removed by Surgery	Active, not recruiting	NCT02158520	Phase 2	Nab-paclitaxel
22	Dinaciclib in Treating Patients With Stage IV Melanoma	Active, not recruiting	NCT00937937	Phase 2	Dinaciclib
23	Phase II Study of Abraxane Plus Ipilimumab in Patients With Metastatic Melanoma	Active, not recruiting	NCT01827111	Phase 2	ABI-007;Ipilimumab
24	Neoadjuvant Treatment Associated With Maintenance Therapy by Anti-PD1 Immunotherapy in Patients With Resectable Head and Neck Mucosal Melanoma	Not yet recruiting	NCT03313206	Phase 2	Pembrolizumab
25	Nivolumab or Expectant Observation Following Ipilimumab, Nivolumab, and Surgery in Treating Patients With High Risk Localized, Locoregionally Advanced, or Recurrent Mucosal Melanoma	Not yet recruiting	NCT03220009	Phase 2
26	Immunotherapy With Ipilimumab and Nivolumab Preceded or Not by a Targeted Therapy With Encorafenib and Binimetinib	Not yet recruiting	NCT03235245	Phase 2	Nivolumab + Ipilimumab;Encorafenib + Binimetinib
27	CDX-1401 and Poly-ICLC Vaccine Therapy With or Without CDX-301 in Treating Patients With Stage IIB-IV Melanoma	Suspended	NCT02129075	Phase 2
28	Treatment With Dasatinib in Patients With Acral Lentiginous, Mucosal, or Chronic Sun-damaged Melanoma	Terminated	NCT01092728	Phase 2	Dasatinib
29	Temsirolimus/AZD 6244 for Treatment-naive With BRAF Mutant Unresectable Stage IV	Terminated	NCT01166126	Phase 2	temsirolimus;selumetinib
30	Anti-MART-1 F5 Lymphocytes to Treat High-Risk Melanoma Patients	Terminated	NCT00706992	Phase 2
31	A Phase 2 Biomarker - Enriched Study of TH-302 in Subjects With Advanced Melanoma	Terminated	NCT01864538	Phase 2	TH-302
32	Study of Pembrolizumab (MK-3475) in Participants With Advanced Melanoma (MK-3475-041/KEYNOTE-041)	Completed	NCT02180061	Phase 1
33	Adenovirus CCL-21 Transduced MART-1/gp100/Tyrosinase/NY-ESO-1 Peptide-Pulsed Dendritic Cells Matured	Completed	NCT00798629	Phase 1
34	Pembrolizumab and Stereotactic Radiosurgery for Melanoma or Non-Small Cell Lung Cancer Brain Metastases	Recruiting	NCT02858869	Phase 1
35	Molecular Characterization of Primary Mucosal Melanoma	Recruiting	NCT03319693
36	A Biomarker Study in Advanced Mucosal or Acral Lentiginous Melanoma Receiving Nivolumab in Combination With Ipilimumab	Recruiting	NCT02978443		Nivolumab;Ipilimumab

Search NIH Clinical Center for Mucosal Melanoma

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Genetic Tests for Mucosal Melanoma

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Anatomical Context for Mucosal Melanoma

The Foundational Model of Anatomy Ontology organs/tissues related to Mucosal Melanoma:

¹⁹

Mucosal Membranes Lining The Respiratory

MalaCards organs/tissues related to Mucosal Melanoma:

⁴¹

Endothelial, Lung, Skin, Brain, Lymph Node, Testis, Tonsil

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Publications for Mucosal Melanoma

Articles related to Mucosal Melanoma:

(show top 50) (show all 173)

#	Title	Authors	Year
1	Mucosal melanoma: clinical and genetic profile. ( 29797459 )	Caius Silviu S....Stefania A.	2018
2	Clinical patterns and management of primary mucosal melanoma: a single centre experience. ( 29388353 )	Ng Y.Y.R....Teo M.C.C.	2018
3	Updates in the management of sinonasal mucosal melanoma. ( 29095708 )	Crippen M.M....Eloy J.A.	2018
4	Mucosal Melanoma: a Literature Review. ( 29569184 )	Yde S.S....Stolle L.B.	2018
5	Anorectal mucosal melanoma. ( 29492238 )	Malaguarnera G....Latteri S.	2018
6	Approaches to regional lymph node metastasis in patients with head and neck mucosal melanoma. ( 29044491 )	Amit M....Hanna E.Y.	2018
7	Primary sinonasal mucosal melanoma simulated as cystic lesions: a case report. ( 29535967 )	Shin S.H....Hong S.D.	2018
8	Reply to mucosal melanoma: clinical and genetic profile. ( 29799644 )	Cinotti E....Rubegni P.	2018
9	Contemporary Treatment Approaches to Sinonasal Mucosal Melanoma. ( 29492677 )	Amit M....Hanna E.Y.	2018
10	Analysis of TSC1 mutation spectrum in mucosal melanoma. ( 29185092 )	Ma M....Guo J.	2018
11	Multifactorial Analysis of Prognostic Factors and Survival Rates Among 706 Mucosal Melanoma Patients. ( 29748886 )	Cui C....Guo J.	2018
12	Whole-exome sequencing of oral mucosal melanoma reveals mutational profile and therapeutic targets. ( 29230811 )	Lyu J....Shi Y.	2018
13	Patterns of Treatment Failure in Patients with Sinonasal Mucosal Melanoma. ( 29626308 )	Amit M....Hanna E.Y.	2018
14	A comprehensive genome-wide analysis of the long noncoding RNA expression profile in metastatic lymph nodes of oral mucosal melanoma. ( 29960071 )	Ju H....Ren G.	2018
15	Immunotherapy in mucosal melanoma: a case report and review of the literature. ( 29707161 )	Studentova H....Vrana D.	2018
16	<i>KIT, NRAS, BRAF</i> and <i>FMNL2</i> mutations in oral mucosal melanoma and a systematic review of the literature. ( 29805686 )	Chen F....Ding C.	2018
17	Are oral mucosal nevi potential precursors for oral mucosal melanoma? ( 29501410 )	Raj A.T....Rajkumar C.	2018
18	Pseudoprogression with subsequent complete response and severe thrombocytopenia to checkpoint inhibitor immunotherapy in a patient with advanced mucosal melanoma of the sinonasal cavity. ( 29952773 )	Philipp M....Nguyen V.A.	2018
19	Genital mucosal melanoma with somatic SF3B1 R625C mutation. ( 29624176 )	Oiso N....Kawada A.	2018
20	Combination therapy improves immune response and prognosis in patients with advanced oral mucosal melanoma: A clinical treatment success. ( 29958936 )	Zhang J....Wang H.	2018
21	The clinical significance of<i>c-Kit</i>mutations in metastatic oral mucosal melanoma in China. ( 29137292 )	Ma X....Ren G.	2017
22	Mutational Status of NRAS and BRAF Genes and Protein Expression Analysis in a Series of Primary Oral Mucosal Melanoma. ( 28134726 )	Hsieh R....LourenAso S.V.	2017
23	Long-term treatment outcomes and prognosis of mucosal melanoma of the head and neck: 161 cases from a single institution. ( 29103739 )	Sun S....Yi J.	2017
24	Mucosal Melanoma Originating From the Eustachian Tube. ( 28953148 )	Kim J.H....Kang J.W.	2017
25	Failure patterns and prognostic factors of patients with primary mucosal melanoma of the nasal cavity and paranasal sinuses. ( 28767022 )	Liu Z.P....Xiao J.P.	2017
26	Adjuvant radiotherapy in sinonasal mucosal melanoma: A retrospective analysis. ( 29150980 )	Caspers C.J.I....Hardillo J.A.U.	2017
27	Sinonasal mucosal melanoma: A 44-case study and literature analysis. ( 28442409 )	DrAcno M....Malard O.	2017
28	Intralesional interleukin-2 for unresectable mucosal melanoma refractory to nivolumab. ( 28497158 )	Heppt M.V....Berking C.	2017
29	Ki67 Proliferation Index as a Histopathological Predictive and Prognostic Parameter of Oral Mucosal Melanoma in Patients without Distant Metastases. ( 29151970 )	Ma X....Ren G.	2017
30	Prognostic factors and treatment outcomes in 444 patients with mucosal melanoma. ( 28600969 )	Heppt M.V....Berking C.	2017
31	Predictors of survival in head and neck mucosal melanoma. ( 28939074 )	Schmidt M.Q....Zumsteg Z.S.	2017
32	Treatment of Primary and Metastatic Multifocal Mucosal Melanoma of the Oral Cavity with Imatinib. ( 28868012 )	Deinlein T....Zalaudek I.	2017
33	BRAF inhibitors: efficacious and tolerable in BRAF-mutant acral and mucosal melanoma. ( 28485171 )	Bai X....Si L.	2017
34	Efficacy and Safety of Nivolumab Alone or in Combination With Ipilimumab in Patients With Mucosal Melanoma: A Pooled Analysis. ( 28056206 )	D'Angelo S.P....Wolchok J.D.	2017
35	Oncogenic BRAF fusions in mucosal melanomas activate the MAPK pathway and are sensitive to MEK/PI3K inhibition or MEK/CDK4/6 inhibition. ( 28092667 )	Kim H.S....Cho B.C.	2017
36	The Tumor Suppressor p53 in Mucosal Melanoma of the Head and Neck. ( 29236030 )	Fritsche M.K....KNOPF A.	2017
37	Mucosal melanoma: clinical, histological and c-kit gene mutational profile of 86 French cases. ( 28543798 )	Cinotti E....Perrot J.L.	2017
38	Clinical investigation of 38 cases of oral mucosal melanoma: A multicentre retrospective analysis in Japan. ( 28809036 )	Yamada S.I....Umeda M.	2017
39	Role of Adjuvant Treatment in Sinonasal Mucosal Melanoma. ( 29142805 )	Amit M....Hanna E.Y.	2017
40	Comparative study of head and neck mucosal melanoma in 66 patients vs 226 patients with cutaneous melanoma: A survival analysis. ( 28986955 )	Luna-Ortiz K....Martinez Said H.	2017
41	Increased p16 and p53 protein expression predicts poor prognosis in mucosal melanoma. ( 28881806 )	Chen H....Chen G.	2017
42	Whole-exome sequencing identifies recurrent SF3B1 R625 mutation and comutation of NF1 and KIT in mucosal melanoma. ( 28296713 )	Hintzsche J.D....Robinson W.A.	2017
43	Li-Fraumeni syndrome presenting as mucosal melanoma: Case report and treatment considerations. ( 27726232 )	Klein J.D....Kupferman M.E.	2017
44	Clinics, prognosis and new therapeutic options in patients with mucosal melanoma: A retrospective analysis of 75 patients. ( 28072717 )	Schaefer T....Gutzmer R.	2017
45	Multicenter Study of Carbon-Ion Radiation Therapy for Mucosal Melanoma of the Head and Neck: Subanalysis of the Japan Carbon-Ion Radiation Oncology Study Group (J-CROS) Study (1402 HN). ( 28332989 )	Koto M....Kamada T.	2017
46	Longitudinal clinicopathologic data of the progression of oral mucosal melanoma-report of 2 cases and literature review. ( 29429904 )	Patel P.B....Cheng Y.L.	2017
47	A Review of the Aetiopathogenesis and Clinical and Histopathological Features of Oral Mucosal Melanoma. ( 28638859 )	Feller L....Lemmer J.	2017
48	Mutation status among patients with sinonasal mucosal melanoma and its impact on survival. ( 28494469 )	Amit M....Hanna E.Y.	2017
49	Synergistic effects of interferon-beta and nivolumab in oral mucosal melanoma. ( 28944501 )	Fusumae T....Ohtsuki M.	2017
50	Recurrence in a patient with a 10-year history of sinonasal mucosal melanoma manifesting as facial swelling. ( 29410768 )	Kalogirou E.M....Sklavounou A.	2017

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Genes for Mucosal Melanoma

Genes related to Mucosal Melanoma (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	KIT	KIT Proto-Oncogene Receptor Tyrosine Kinase	Protein Coding	24.81	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
2	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	24.21	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
3	GNAQ	G Protein Subunit Alpha Q	Protein Coding	22.49	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
4	MITF	Melanogenesis Associated Transcription Factor	Protein Coding	22.07	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
5	GNA11	G Protein Subunit Alpha 11	Protein Coding	21.95	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
6	MAGEC1	MAGE Family Member C1	Protein Coding	21.25	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
7	TERT	Telomerase Reverse Transcriptase	Protein Coding	21.13	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
8	NF1	Neurofibromin 1	Protein Coding	21.04	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
9	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	20.91	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)

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Variations for Mucosal Melanoma

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Expression for Mucosal Melanoma

Search GEO for disease gene expression data for Mucosal Melanoma.

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Pathways for Mucosal Melanoma

Pathways related to Mucosal Melanoma according to GeneCards Suite gene sharing:

(show all 35)

#	Super pathways	Score	Top Affiliating Genes
1	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.85	BRAF GNA11 KIT NRAS
2	fMLP Pathway ⁶⁴ Show member pathways Alpha-Adrenergic Signaling ⁶⁴ CCR3 Pathway in Eosinophils ⁶⁴ CXCR4 Pathway ⁶⁴ Huntington's Disease Pathway ⁶⁴ Internalin Pathway ⁶⁴ Signal transduction Activation of PKC via G-Protein coupled receptor ²² VEGF and S-1P Signaling ⁶⁴	12.8	BRAF GNA11 GNAQ NRAS
3	MAPK-Erk Pathway ⁶⁷ Show member pathways Actin Dynamics Signaling Pathway ⁶⁷ G Protein-coupled Receptors Signaling ⁶⁷	12.62	BRAF GNA11 MITF NRAS
4	IL-2 Pathway ⁶⁴ Show member pathways HMGB1 Pathway ⁶⁴ LPS Stimulated MAPK Signaling ⁶⁴ PACAP Signaling ⁶⁴ PI3K Signaling in B-Lymphocyte ⁶⁴ TREM1 Pathway ⁶⁴	12.6	BRAF GNA11 GNAQ NRAS
5	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	12.56	BRAF GNA11 GNAQ KIT NRAS
6	Glioma ³⁷ Show member pathways EGFR tyrosine kinase inhibitor resistance ³⁷ Endocrine resistance ³⁷ Melanoma ³⁷ Non-small cell lung cancer ³⁷ Signaling Pathways in Glioblastoma ¹	12.55	BRAF MITF NF1 NRAS
7	MAPK signaling pathway ¹ ³⁷	12.54	BRAF KIT NF1 NRAS
8	Gastric cancer ³⁷ Show member pathways Breast cancer ³⁷ Hepatocellular carcinoma ³⁷	12.53	BRAF KIT NRAS TERT
9	Vascular smooth muscle contraction ³⁷ Show member pathways cGMP-PKG signaling pathway ³⁷ Oxytocin signaling pathway ³⁷	12.49	BRAF GNA11 GNAQ NRAS
10	Aldosterone synthesis and secretion ³⁷ Show member pathways Adrenergic signaling in cardiomyocytes ³⁷ Ca2+ activated K+ channels ⁶⁶ Cortisol synthesis and secretion ³⁷ Cushing's syndrome ³⁷ Insulin secretion ³⁷ Melanogenesis ³⁷ Thyroid hormone synthesis ³⁷	12.49	BRAF GNA11 GNAQ KIT MITF NRAS
11	Ras signaling pathway ³⁷ Show member pathways Rap1 signaling pathway ³⁷	12.36	BRAF GNAQ KIT NF1 NRAS
12	RANK Signaling in Osteoclasts ⁶⁴ Show member pathways Apoptosis and survival APRIL and BAFF signaling ²² APRIL Pathway ⁶⁴ BAFF in B-Cell Signaling ⁶⁴ RANK Pathway ⁶⁴ RANKL/RANK (Receptor activator of NFKB (ligand)) Signaling Pathway ¹	12.24	BRAF MITF NRAS
13	Signaling by moderate kinase activity BRAF mutants ⁶⁶ Show member pathways MAP2K and MAPK activation ⁶⁶ Paradoxical activation of RAF signaling by kinase inactive BRAF ⁶⁶ Signaling by high-kinase activity BRAF mutants ⁶⁶ Signaling by RAS mutants ⁶⁶	12.1	BRAF NF1 NRAS
14	Long-term potentiation ³⁷ Show member pathways Common Pathways Underlying Drug Addiction ¹ Dopamine D1-Like Receptor Family Signaling Pathways ⁶⁵	12.01	BRAF GNAQ NRAS
15	Pathways in cancer ³⁷	11.89	BRAF GNA11 GNAQ KIT MITF NRAS
16	Oncogenic MAPK signaling ⁶⁶ Show member pathways Signaling by BRAF and RAF fusions ⁶⁶	11.87	BRAF NF1 NRAS
17	Development A2A receptor signaling ²² Show member pathways Development A2B receptor- action via G-protein alpha s ²²	11.81	BRAF GNA11 GNAQ
18	Serotonergic synapse ³⁷	11.75	BRAF GNAQ NRAS
19	Glioblastoma Multiforme ⁶⁴	11.73	BRAF NF1 NRAS
20	Parathyroid hormone synthesis, secretion and action ³⁷	11.7	BRAF GNA11 GNAQ
21	MAP Kinase Signaling ⁴	11.61	BRAF GNAQ NF1 NRAS
22	Corticotropin-releasing hormone signaling pathway ¹	11.6	BRAF GNA11 GNAQ
23	Gap junction ³⁷	11.55	GNA11 GNAQ NRAS
24	VEGF Pathway (Tocris) ⁷² Show member pathways Sorafenib Pharmacodynamics ⁶¹	11.46	BRAF KIT NRAS
25	Aryl Hydrocarbon Receptor ¹	11.35	NF1 NRAS
26	Vemurafenib Pathway, Pharmacodynamics ⁶¹	11.28	BRAF NRAS
27	Melanocyte Development and Pigmentation ⁶⁴	11.26	KIT MITF
28	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	11.23	GNA11 GNAQ
29	CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) ²²	11.18	GNA11 GNAQ
30	Arf6 signaling events ¹	11.16	GNA11 GNAQ
31	BDNF-TrkB Signaling ¹	11.16	BRAF NRAS
32	Transcription_Transcription factor Tubby signaling pathways ²²	11.07	GNA11 GNAQ NRAS
33	Long-term depression ³⁷	11.03	BRAF GNA11 GNAQ NRAS
34	Serotonin Receptor 2 and ELK-SRF/GATA4 signaling ¹	10.91	GNAQ NRAS
35	Free fatty acids regulate insulin secretion ⁶⁶ Show member pathways Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion ⁶⁶	10.8	GNA11 GNAQ

Sources

GO Terms for Mucosal Melanoma

Cellular components related to Mucosal Melanoma according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	heterotrimeric G-protein complex	GO:0005834	8.62	GNA11 GNAQ

Biological processes related to Mucosal Melanoma according to GeneCards Suite gene sharing:

(show all 18)

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of apoptotic process	GO:0043066	9.85	BRAF KIT MITF TERT
2	heart development	GO:0007507	9.75	GNA11 GNAQ NF1
3	MAPK cascade	GO:0000165	9.67	BRAF KIT NF1 NRAS
4	regulation of cell proliferation	GO:0042127	9.62	BRAF KIT MITF NF1
5	negative regulation of endothelial cell apoptotic process	GO:2000352	9.57	BRAF TERT
6	response to cadmium ion	GO:0046686	9.56	KIT TERT
7	melanocyte differentiation	GO:0030318	9.52	KIT MITF
8	action potential	GO:0001508	9.51	GNA11 GNAQ
9	G-protein coupled acetylcholine receptor signaling pathway	GO:0007213	9.49	GNA11 GNAQ
10	phospholipase C-activating dopamine receptor signaling pathway	GO:0060158	9.48	GNA11 GNAQ
11	phototransduction, visible light	GO:0007603	9.46	GNA11 GNAQ
12	entrainment of circadian clock	GO:0009649	9.43	GNA11 GNAQ
13	visual learning	GO:0008542	9.43	BRAF KIT NF1
14	myeloid progenitor cell differentiation	GO:0002318	9.4	BRAF KIT
15	pigmentation	GO:0043473	9.33	KIT MITF NF1
16	regulation of melanocyte differentiation	GO:0045634	8.96	GNA11 GNAQ
17	developmental pigmentation	GO:0048066	8.8	GNA11 GNAQ KIT
18	signal transduction	GO:0007165	10.01	BRAF GNA11 GNAQ KIT NF1 NRAS

Molecular functions related to Mucosal Melanoma according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	GTPase activity	GO:0003924	9.43	GNA11 GNAQ NRAS
2	G-protein beta/gamma-subunit complex binding	GO:0031683	9.16	GNA11 GNAQ
3	guanyl nucleotide binding	GO:0019001	8.96	GNA11 GNAQ
4	type 2A serotonin receptor binding	GO:0031826	8.62	GNA11 GNAQ

Sources

Sources for Mucosal Melanoma

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia