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

MCID: MLN008 MIFTS: 74	Melanoma Categories: Cancer diseases, Eye diseases, Genetic diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Melanoma

MalaCards integrated aliases for Melanoma:

Name: Melanoma ¹¹ ⁴² ²⁸ ⁵³ ⁵ ⁴¹ ⁴³ ¹⁴ ³⁶ ⁶³ ³⁸ ¹⁶ ⁷¹ ⁷⁵

Malignant Melanoma ¹¹ ⁴²

Cutaneous Melanoma ⁴² ⁷¹

Malignant Melanomas ¹⁴

Naevocarcinoma ¹¹

Classifications:

MalaCards categories:
Global: Cancer diseases Rare diseases Genetic diseases
Anatomical: Eye diseases Skin diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:1909

MeSH ⁴³ D008545

NCIt ⁴⁹ C3224

SNOMED-CT ⁶⁸ 2092003

EFO ¹⁶ EFO_0000756

UMLS ⁷¹ C0025202 C0151779

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Summaries for Melanoma

MedlinePlus Genetics: ⁴² Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. This cancer typically occurs in areas that are only occasionally sun-exposed; tumors are most commonly found on the back in men and on the legs in women. Melanoma usually occurs on the skin (cutaneous melanoma), but in about 5 percent of cases it develops in melanocytes in other tissues, including the eyes (uveal melanoma) or mucous membranes that line the body's cavities, such as the moist lining of the mouth (mucosal melanoma). Melanoma can develop at any age, but it most frequently occurs in people in their fifties to seventies and is becoming more common in teenagers and young adults.Melanoma may develop from an existing mole or other normal skin growth that becomes cancerous (malignant); however, many melanomas are new growths. Melanomas often have ragged edges and an irregular shape. They can range from a few millimeters to several centimeters across. They can also be a variety of colors: brown, black, red, pink, blue, or white.Most melanomas affect only the outermost layer of skin (the epidermis). If a melanoma becomes thicker and involves multiple layers of skin, it can spread to other parts of the body (metastasize).A large number of moles or other pigmented skin growths on the body, generally more than 25, is associated with an increased risk of developing melanoma. Melanoma is also a common feature of genetic syndromes affecting the skin such as xeroderma pigmentosum. Additionally, individuals who have previously had melanoma are nearly nine times more likely than the general population to develop melanoma again. It is estimated that about 90 percent of individuals with melanoma survive at least 5 years after being diagnosed.

MalaCards based summary: Melanoma, also known as malignant melanoma, is related to skin melanoma and melanoma, uveal, and has symptoms including pruritus and exanthema. An important gene associated with Melanoma is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Triamcinolone and Vindesine have been mentioned in the context of this disorder. Affiliated tissues include skin, lymph node and t cells, and related phenotypes are normal and pigmentation

MedlinePlus: ⁴¹ Melanoma is the most serious type of skin cancer. Often the first sign of melanoma is a change in the size, shape, color, or feel of a mole. Most melanomas have a black or black-blue area. Melanoma may also appear as a new mole. It may be black, abnormal, or "ugly looking." Thinking of "ABCDE" can help you remember what to watch for: Asymmetry - the shape of one half does not match the other Border - the edges are ragged, blurred or irregular Color - the color is uneven and may include shades of black, brown and tan Diameter - there is a change in size, usually an increase Evolving - the mole has changed over the past few weeks or months Surgery is the first treatment of all stages of melanoma. Other treatments include chemotherapy and radiation, biologic, and targeted therapies. Biologic therapy boosts your body's own ability to fight cancer. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute

PubMed Health : ⁶³ Melanoma: We all have moles or other small lumps and bumps that are a different color to the rest of our skin. This is perfectly normal and usually nothing to worry about. It is only rarely skin cancer. Skin cancer comes in different forms. The main types are (malignant) melanoma, basal cell cancer (BCC) and squamous cell cancer (SCC). Basal cell cancer and squamous cell cancer are sometimes grouped together and referred to as non-melanoma skin cancer. Melanoma, which often looks like a very dark mole, is the most widely known type of skin cancer. This is probably because some types are dangerous and can spread very quickly throughout the body.

Novus Biologicals: ⁵⁴ Melanoma is a malignant tumor that results from uncontrolled growth of pigmented cells, called melanocytes. Several types of melanoma exist, including superficial spreading melanoma, nodular melanoma and lentigo melanoma. Melanoma diagnosis is traditionally supported by the presence of the S-100 protein marker and HMB-45, however research has determined the sensitivity and specificity of three novel antibodies as markers for melanoma: Mitf, Melan-A and tyrosinase.

Disease Ontology: ¹¹ A cell type cancer that has material basis in abnormally proliferating cells derives from melanocytes which are found in skin, the bowel and the eye.

Wikipedia: ⁷⁵ Melanoma, also redundantly known as malignant melanoma, is a type of skin cancer that develops from the... more...

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Related Diseases for Melanoma

Diseases in the Melanoma family:

Hereditary Melanoma

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

(show top 50) (show all 2406)

#	Related Disease	Score	Top Affiliating Genes
1	skin melanoma	34.5	PTEN NRAS MAP2K1 KIT GNAQ GNA11
2	melanoma, uveal	34.4	PTEN NRAS MIRLET7B MIR193B MAP2K1 KIT
3	melanoma, cutaneous malignant 1	34.4	PTEN NRAS MAP2K1 KIT GNAQ GNA11
4	ocular melanoma	34.0	NRAS KIT GNAQ GNA11 CDKN2A
5	acral lentiginous melanoma	34.0	NRAS KIT GNAQ GNA11 CDKN2A BRAF
6	nodular malignant melanoma	34.0	PTEN NRAS MIR23B KIT GNAQ GNA11
7	mucosal melanoma	34.0	PTEN NRAS MAP2K1 KIT GNAQ GNA11
8	skin carcinoma	33.8	PTEN NRAS KIT CTNNB1 CDKN2A
9	malignant spindle cell melanoma	33.6	NRAS KIT GNAQ GNA11 CDKN2A
10	melanoma in congenital melanocytic nevus	33.6	PTEN NRAS KIT GNAQ CDKN2A BRAF
11	malignant conjunctival melanoma	33.5	NRAS KIT GNAQ GNA11
12	spitzoid melanoma	33.2	NRAS GNAQ GNA11 CDKN2A
13	large congenital melanocytic nevus	33.1	NRAS GNAQ GNA11 CDKN2A
14	vulvar melanoma	33.1	NRAS KIT GNAQ GNA11
15	posterior uveal melanoma	33.0	MIR182 GNAQ GNA11
16	meningeal melanoma	32.9	NRAS GNAQ GNA11
17	malignant choroid melanoma	32.9	GNAQ GNA11
18	malignant skin fibrous histiocytoma	32.9	NRAS KIT GNA11
19	spinal cord melanoma	32.9	NRAS GNAQ GNA11
20	malignant anus melanoma	32.9	NRAS KIT
21	mixed cell uveal melanoma	32.9	GNAQ GNA11
22	squamous cell carcinoma, head and neck	32.7	PTEN MIR222 MIR221 MIR205 MIR193B MAP2K1
23	ocular cancer	32.6	MIR34A MIR221 GNAQ GNA11 CDKN2A
24	epithelioid cell melanoma	32.6	GNAQ GNA11
25	nevus, epidermal	32.6	PTEN NRAS GNAQ GNA11
26	renal cell carcinoma, nonpapillary	32.5	PTEN NRAS MIR532 MIR34A MIR23B MIR222
27	lung cancer	32.5	PTEN NRAS MIRLET7B MIR532 MIR34A MIR23B
28	squamous cell carcinoma	32.4	PTEN NRAS MIR205 CTNNB1 CDKN2A BRAF
29	uveal disease	32.4	NRAS MIRLET7B GNAQ GNA11
30	breast cancer	32.4	PTEN NRAS MIR34A MIR222 MIR221 MIR205
31	cervix melanoma	32.3	NRAS KIT
32	skin squamous cell carcinoma	32.3	PTEN NRAS MAP2K1 CTNNB1 CDKN2A BRAF
33	neuroblastoma	32.2	PTEN NRAS MIRLET7B MIR34A MIR23B MIR221
34	skin disease	32.2	PTEN NRAS MIR34A MIR23B MIR221 KIT
35	colorectal cancer	32.2	PTEN NRAS MIRLET7B MIR532 MIR34A MIR23B
36	pancreatic cancer	32.2	PTEN MIR34A MIR23B MIR222 MIR221 MIR205
37	hemangioma	32.1	PTEN MAP2K1 KIT GNAQ GNA11 CTNNB1
38	gastrointestinal stromal tumor	32.1	PTEN NRAS MAP2K1 KIT CTNNB1 CDKN2A
39	glioblastoma	32.1	PTEN NRAS MIR34A MIR23B MIR222 MIR221
40	leukemia, chronic lymphocytic	32.1	PTEN NRAS MIR532 MIR34A MIR23B MIR221
41	neurofibromatosis	32.1	PTEN NRAS KIT CDKN2A BRAF
42	hypomelanosis of ito	32.0	GNAQ GNA11
43	adenocarcinoma	32.0	PTEN MAP2K1 CTNNB1 CDKN2A BRAF
44	bladder cancer	32.0	PTEN NRAS MIR23B MIR222 MIR221 MIR205
45	ovarian cancer	32.0	PTEN MIR34A MIR222 MIR221 MIR205 MAP2K1
46	brain cancer	31.9	PTEN NRAS MIR34A MIR222 MIR221 MIR182
47	neurofibromatosis, type i	31.9	PTEN NRAS MAP2K1 KIT CDKN2A
48	leukemia, acute myeloid	31.8	PTEN NRAS MIRLET7B MIR532 MIR34A MIR23B
49	teratoma	31.8	PTEN KIT CTNNB1 CDKN2A
50	lung cancer susceptibility 3	31.8	NRAS MIR205 MIR182 MAP2K1 CTNNB1 CDKN2A

Graphical network of the top 20 diseases related to Melanoma:

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Symptoms & Phenotypes for Melanoma

UMLS symptoms related to Melanoma:

pruritus; exanthema

MGI Mouse Phenotypes related to Melanoma:

⁴⁵ (show all 14)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	normal	MP:0002873	10.25	BRAF CTNNB1 GNA11 GNAQ KIT MAP2K1
2	pigmentation	MP:0001186	10.19	BRAF CDKN2A CTNNB1 FBN1 GNA11 GNAQ
3	neoplasm	MP:0002006	10.18	BRAF CDKN2A CTNNB1 KIT MAP2K1 MIR182
4	endocrine/exocrine gland	MP:0005379	10.15	BRAF CDKN2A CTNNB1 FBN1 GNA11 GNAQ
5	no phenotypic analysis	MP:0003012	10.1	CDKN2A CTNNB1 FBN1 KIT MIR205 MIR23B
6	renal/urinary system	MP:0005367	10.08	BRAF CTNNB1 FBN1 GNA11 GNAQ KIT
7	muscle	MP:0005369	10.06	BRAF CDKN2A CTNNB1 FBN1 GNA11 GNAQ
8	limbs/digits/tail	MP:0005371	10.03	BRAF CTNNB1 FBN1 GNA11 GNAQ KIT
9	digestive/alimentary	MP:0005381	9.92	BRAF CDKN2A CTNNB1 KIT MAP2K1 MIR205
10	hearing/vestibular/ear	MP:0005377	9.88	BRAF CTNNB1 GNA11 GNAQ KIT MAP2K1
11	craniofacial	MP:0005382	9.86	BRAF CTNNB1 FBN1 GNA11 GNAQ KIT
12	respiratory system	MP:0005388	9.81	BRAF CDKN2A CTNNB1 FBN1 GNA11 GNAQ
13	skeleton	MP:0005390	9.7	BRAF CDKN2A CTNNB1 FBN1 GNA11 GNAQ
14	integument	MP:0010771	9.44	BRAF CDKN2A CTNNB1 FBN1 GNA11 GNAQ

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Drugs & Therapeutics for Melanoma

PubMed Health treatment related to Melanoma: ⁶³

After melanoma is diagnosed, the first step is usually to try to remove it surgically. If it is already advanced or metastatic tumors have developed elsewhere, surgery is combined with other treatments such as medication or radiation.

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

(show top 50) (show all 549)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Triamcinolone

Approved, Vet_approved

Phase 4

124-94-7

31307

Vindesine

Approved, Investigational

Phase 4

59917-39-4, 53643-48-4

40839

Tacrolimus

Approved, Investigational

Phase 4

104987-11-3

6473866 445643

Etanercept

Approved, Investigational

Phase 4

185243-69-0

Sevoflurane

Approved, Vet_approved

Phase 4

28523-86-6

5206

Propofol

Approved, Investigational, Vet_approved

Phase 4

2078-54-8

4943

Isoflurane

Approved, Vet_approved

Phase 4

26675-46-7

3763

Desflurane

Approved

Phase 4

57041-67-5

42113

Dabrafenib

Approved, Investigational

Phase 4

1195765-45-7

44462760

Somatostatin

Approved, Investigational

Phase 4

38916-34-6, 51110-01-1

53481605 16129706

Cabergoline

Approved

Phase 4

81409-90-7

54746

Lactitol

Approved, Investigational

Phase 4

585-86-4

157355

Dopamine

Approved

Phase 4

62-31-7, 51-61-6

681

Pasireotide

Approved

Phase 4

396091-73-9

56841596 9941444

Triamcinolone hexacetonide

Phase 4

Triamcinolone diacetate

Phase 4

Triamcinolone Acetonide

Phase 4

6436

Platelet Aggregation Inhibitors

Phase 4

Fibrin Tissue Adhesive

Phase 4

Hemostatics

Phase 4

Coagulants

Phase 4

Anesthetics, Inhalation

Phase 4

Dopamine agonists

Phase 4

Dopamine Agents

Phase 4

Antiparkinson Agents

Phase 4

Propranolol

Approved, Investigational

Phase 2, Phase 3

318-98-9, 525-66-6

62882 4946

Treosulfan

Approved, Investigational

Phase 3

299-75-2

9296

Timolol

Approved

Phase 3

26839-75-8

5478 33624

Sorafenib

Approved, Investigational

Phase 3

284461-73-0

216239

Imiquimod

Approved, Investigational

Phase 3

99011-02-6

57469

Ranibizumab

Approved

Phase 3

347396-82-1

Lenalidomide

Approved

Phase 2, Phase 3

191732-72-6

216326

Peginterferon alfa-2a

Approved, Investigational

Phase 3

198153-51-4

Benzocaine

Approved, Investigational

Phase 2, Phase 3

1994-09-7, 94-09-7

2337

Tannic acid

Approved

Phase 2, Phase 3

1401-55-4

16129878 16129778

Memantine

Approved, Investigational

Phase 3

41100-52-1, 19982-08-2

4054

Dimethyl sulfoxide

Approved, Vet_approved

Phase 3

67-68-5

679

Aflibercept

Approved

Phase 3

862111-32-8

124490314

Levoleucovorin

Approved, Experimental, Investigational

Phase 3

68538-85-2, 58-05-9, 73951-54-9

149436 6006

Paclitaxel

Approved, Vet_approved

Phase 3

33069-62-4

36314

Talimogene laherparepvec

Approved, Experimental, Investigational

Phase 3

1187560-31-1

Dacarbazine

Approved, Investigational

Phase 3

4342-03-4

2942 5351166

Temozolomide

Approved, Investigational

Phase 3

85622-93-1

5394

Xylometazoline

Approved, Investigational

Phase 3

526-36-3

5709

Peginterferon alfa-2b

Approved

Phase 2, Phase 3

215647-85-1, 99210-65-8

BCG vaccine

Approved, Investigational

Phase 3

D-Tyrosine

Approved, Experimental, Investigational, Nutraceutical

Phase 3

133585-56-5, 60-18-4, 556-02-5

1153 6057

Cholecalciferol

Approved, Nutraceutical, Vet_approved

Phase 3

67-97-0, 1406-16-2

5280795 10883523

Imidacloprid

Vet_approved

Phase 3

105827-78-9

86418

Linrodostat

Investigational

Phase 3

1923833-60-6

121328278

Interventional clinical trials:

(show top 50) (show all 2888)

#	Name	Status	NCT ID	Phase	Drugs
1	Immune Modulation Study in Patients With Metastatic Melanoma Treated With Anti-PD1 Monoclonal Antibodies	Unknown status	NCT02626065	Phase 4	Nivolumab
2	Elderly Cancer PatIents Treated for Advanced or Metastatic Melanoma or NSCLC, Safety and qualiTy of Life Under immunOtheraPies: a Phase IV Trial	Unknown status	NCT03673332	Phase 4	immune-checkpoint inhibitors therapies
3	A Randomized Control Trial of Intravitreal Ranibizumab (Lucentis) for the Prevention of Radiation Maculopathy Following Plaque Radiotherapy for Choroidal Melanoma	Unknown status	NCT00540930	Phase 4	Ranibizumab
4	An Exploratory Prospective, Open-label, Unicentric Study With Cross-over Design, Comparing Lymphoseek® vs. Albumin Nanocolloid for Image- Guided Sentinel Lymph Node Mapping in Head and Neck, Melanoma and Breast Cancer.	Unknown status	NCT04261179	Phase 4	Lymphoseek;Nanocoll
5	Transpupillary Thermotherapy (TTT) Alone Versus the Combined Therapy Consisting of TTT and Intravitreal Injection of Triamcinolone to Decrease Exudation in Choroidal Melanoma After Proton Beam Therapy	Unknown status	NCT02379000	Phase 4	Triamcinolone Acetonide
6	Standard Palliative Care Versus Standard Palliative Care Plus Polychemotherapy (CVD-Protocol) in the Second-Line Therapy of Distant Metastasized Malignant Melanoma	Unknown status	NCT00226473	Phase 4	Cisplatin, Vindesine, Dacarbazine (drugs)
7	Evolution of the Heart Function When Monitoring Immunotherapies Anti-cancerous Inhibiting Programmed Cell Death 1 (PD-1)	Unknown status	NCT03313544	Phase 4	Nivolumab
8	Can We Miss Pigmented Lesions in Psoriasis Patients?	Completed	NCT01053819	Phase 4	etanercept
9	Photodynamic Therapy for Melanoma Precursor Lesion Lentigo Maligna Using 5-aminolevulinic Acid Nanoemulsion (BF-200 ALA) as a Light Sensitizing Cream	Completed	NCT02685592	Phase 4	5-aminolevulinic acid nanoemulsion
10	Open-label Pharmacokinetic Trial of Aldesleukin (Rh-Interleukin-2 [IL-2]) Administered Intravenously to Subjects With Metastatic Renal Cell Carcinoma or Metastatic Melanoma With Immunologic Correlative Studies	Completed	NCT00414765	Phase 4	Aldesleukin
11	An Open-Label, Single-Arm, Multicenter Study To Assess The Safety Of Vemurafenib In Patients With Braf V600 Mutation Positive Metastatic Melanoma In South Africa.	Completed	NCT01898585	Phase 4	Zelboraf
12	A Randomized, Open-Label Study to Compare the Rate of New Non-Melanoma Skin Cancer in Maintenance Renal Allograft Recipients Converted to a Sirolimus-based Regimen Versus Continuation of a Calcineurin Inhibitor-based Regimen	Completed	NCT00129961	Phase 4	sirolimus;cyclosporine or tacrolimus
13	Neoadjuvant GM-CSF Treatment and Modulation of Immune Cell Profile of the SLN in Melanoma	Completed	NCT02451488	Phase 4	GM-CSF
14	Volatile Anaesthesia and Perioperative Outcomes Related to Cancer (VAPOR-C): A Feasibility Study	Completed	NCT04074460	Phase 4	Propofol;isoflurane, sevoflurane or desflurane
15	Can Fibrin Sealant be Used to Reduce Post-operative Drainage Following Lymph Node Dissection: a Prospective Randomised Double Blind Trial.	Completed	NCT00324272	Phase 4	Fibrin Sealant (Tisseel) used in the Experimental Arm.
16	Open Label, Multi-center Roll-over Study to Assess Long Term Safety in Patients Who Have Completed a Global Novartis or GSK Sponsored Dabrafenib and/or Trametinib Study	Recruiting	NCT03340506	Phase 4	dabrafenib;trametinib
17	Phase IV Ipilimumab in Melanoma: A National, Multicenter, Interventional Study in Patients With Unresectable or Metastatic Melanoma	Active, not recruiting	NCT02068196	Phase 4	Ipilimumab
18	An Open Label, Multi-center Pasireotide Roll-over Protocol for Patients Who Have Completed a Previous Novartis-sponsored Pasireotide Study and Are Judged by the Investigator to Benefit From Continued Pasireotide Treatment	Active, not recruiting	NCT01794793	Phase 4	Pasireotide;Cabergoline
19	A Prospective, Open-label, Phase 4 Study to Evaluate the Safety of Pembrolizumab (KEYTRUDA®) in Subjects With Unresectable or Metastatic Melanoma or PD-L1 Positive Non-small Cell Lung Cancer (NSCLC) in India (Keynote-593)	Active, not recruiting	NCT03715205	Phase 4	Pembrolizumab
20	Influenza Vaccine Responses in the Setting of Melanoma Treatment	Active, not recruiting	NCT03315975	Phase 4
21	Sentinel Lymph Node Detection in Patients With Stage Ib-III Melanoma Using MultiSpectral Optoacoustic Tomography (MSOT) and IndoCyanine Green (ICG)	Not yet recruiting	NCT05467137	Phase 4
22	Open-Label, Randomized, Multi-Center Study Comparing the Sequence of High Dose Aldesleukin (Interleukin-2) and Ipilimumab (Yervoy) in Patients With Metastatic Melanoma	Terminated	NCT01856023	Phase 4	High Dose Interleukin-2;Ipilimumab
23	A Multi-Center Study of High Dose Aldesleukin (Interleukin-2) + Vemurafenib Therapy in Patients With BRAFV600 Mutation Positive Metastatic Melanoma	Terminated	NCT01683188	Phase 4	vemurafenib + HD IL-2
24	A Phase III Randomized Double-Blind Pivotal Trial of Immunotherapy With a Polyvalent Melanoma Vaccine, CancerVax™ Vaccine Plus BCG Versus Placebo Plus BCG as a Post-Surgical Treatment for Stage IV Melanoma	Unknown status	NCT00052156	Phase 3
25	Phase III Randomized Double-Blind Pivotal Trial of Immunotherapy With BCG Plus a Polyvalent Melanoma Vaccine, CancerVax™ Vaccine Versus BCG Plus a Placebo as a Post-Surgical Treatment for Stage III Melanoma	Unknown status	NCT00052130	Phase 3
26	Adjuvant Pegylated-Interferon-alpha2b (SylatronTM) for 2 Years Versus Observation in Patients With an Ulcerated Primary Cutaneous Melanoma With T(2-4)bN0M0: a Randomized Phase III Trial of the EORTC Melanoma Group.	Unknown status	NCT01502696	Phase 3
27	A Randomized, Controlled, Multi-center, Phase Ⅲ Clinical Study to Investigate Recombinant Humanized Anti-PD-1 Monoclonal Antibody Injection Toripalimab (JS001) Versus Dacarbazine as the First Line Therapy for Unresectable or Metastatic Melanoma	Unknown status	NCT03430297	Phase 3	Dacarbazine 1000mg/m2 Q3W
28	Allogeneic Vaccine Modified to Express HLA A2/4-1BB Ligand for High Risk or Low Residual Disease Melanoma Patients	Unknown status	NCT01861938	Phase 2, Phase 3
29	Melablock: A Multicentre Randomized, Double---blinded and Placebo---controlled Clinical Trial on the Efficacy and Safety of Once Daily Propranolol 80 mg Retard for the Prevention of Cutaneous Malignant Melanoma Recurrence	Unknown status	NCT02962947	Phase 2, Phase 3	Propranolol;Placebo
30	Prospectively Randomized Phase III Study of an Individualized Sensitivity-Directed Combination Chemotherapy Versus DTIC as First-Line Treatment in Stage IV Metastatic Melanoma	Unknown status	NCT00779714	Phase 3	DTIC (dacarbazine);paclitaxel + cisplatin;treosulfan + cytarabine
31	Treatment Of Radiation Retinopathy Trial Subtitle: Treatment of Radiation Retinopathy; Influence of Lucentis® and Kenalog® on Radiation Retinopathy After Irradiation of Choroidal Melanoma.	Unknown status	NCT00811200	Phase 2, Phase 3	ranibizumab;triamcinolone acetonide
32	Comparison of M-Vax Plus Low Dose Interleukin-2 Versus Placebo Vaccine Plus Low Dose Interleukin-2 in Patients With Stage IV Melanoma	Unknown status	NCT00477906	Phase 3
33	PEG-Intron Observation After Regional Lymph Node Dissection in AJCC Stage III (TxN1-2MO) Melanoma Patients: a Randomized Phase III Trial	Unknown status	NCT00006249	Phase 3
34	A Randomized, Phase III Study of Fotemustine Versus the Combination of Fotemustine and Ipilimumab or the Combination of Ipilimumab and Nivolumab in Patients With Metastatic Melanoma With Brain Metastasis	Unknown status	NCT02460068	Phase 3	Fotemustine;Fotemustine and Ipilimumab;Ipilimumab and nivolumab
35	Adjuvant Ganglioside GM2-KLH/QS-21 Vaccination: Post-Operative Adjuvant Ganglioside GM2-KLH/QS-21 (BMS-248479) Vaccination Treatment After Resection of Primary Cutaneous Melanoma Thicker Than 1.5mm (AJCC/UICC Stage II, T3-T4N0M0), a 2-Arm Multicenter Randomized Phase III Trial vs. Observation	Unknown status	NCT00005052	Phase 3
36	POST-OPERATIVE ADJUVANT INTERFERON-ALFA-2B (INTRON-A) TREATMENT AFTER RESECTION OF THICK PRIMARY MELANOMA AND/OR REGIONAL LYMPHNODE METASTASES 'INTERMEDIATE-HIGH DOSE' VS INTERMEDIATE-LOW DOSE' IFN-ALFA VS OBSERVATION: A 3-ARM MULTICENTER RANDOMIZED PHASE III TRIAL	Unknown status	NCT00002763	Phase 3
37	A Phase III, Multi-Center Controlled Trial With Stratified Randomization Comparing The Efficacy Of Interleukin-2 (IL-2) Plus Histamine Dihydrochloride (HDC) Versus IL-2 Alone To Increase The Duration Of Survival In Patients With AJCC Stage IV Malignant Melanoma With Hepatic Metastasis	Unknown status	NCT00039234	Phase 3	histamine dihydrochloride
38	Randomized, Multicenter Study for Adjuvant Treatment of Stage III Malignant Melanoma: Intermittent, High-Dose Intravenous Interferon Alpha-2b Versus Standard High-Dose Interferon Alpha-2b Therapy	Unknown status	NCT00226408	Phase 3	Interferon-alpha-2b
39	Collaborative Ocular Melanoma Study (COMS)	Unknown status	NCT00000124	Phase 3
40	PHASE III TRIAL OF MELACINE PLUS INTERFERON ALFA-2B VERSUS INTERFERON ALFA-2B IN PATIENTS WITH DISSEMINATED MALIGNANT MELANOMA	Unknown status	NCT00002767	Phase 3
41	A Multicenter, Randomized, Controlled, Phase III Trial Comparing High-Dose IFN-a2b With Temozolomide Plus Cisplatin as Systemic Adjuvant Therapy for Resected Mucosal Melanoma	Unknown status	NCT03435302	Phase 3	Temozolomide Plus Cisplatin;High-Dose IFN-a2b
42	Randomized, Comparative Phase II/III Study Between Treatment With CSF470 Vaccine (Allogeneic, Irradiated) Plus BCG and MOLGRAMOSTIN (rhGM-CSF) as Adjuvants and Interferon-alfa 2b (IFN-ALPHA), in Stages IIB, IIC and III Post Surgery Cutaneous Melanoma Patients	Unknown status	NCT01729663	Phase 2, Phase 3	interferon alpha 2b
43	Immunotherapy of Colon Cancer With Autologous Perchloric Soluble Tumors Extracts	Unknown status	NCT00002455	Phase 3
44	Treatment of Port Wine Stains in Children With Pulsed Dye Laser and Timolol Gel	Unknown status	NCT01272609	Phase 3	Timolol + LCP
45	A Randomized, Placebo-Controlled Phase III Trial of Yeast Derived GM-CSF Versus Peptide Vaccination Versus GM-CSF Plus Peptide Vaccination Versus Placebo in Patients With "No Evidence of Disease" After Complete Surgical Resection of "Locally Advanced" and/or Stage IV Melanoma	Completed	NCT01989572	Phase 3
46	A Double-Blind, Randomized, Placebo-Controlled Phase III Trial of Carboplatin, Paclitaxel and Sorafenib Versus Carboplatin, Paclitaxel and Placebo in Patients With Unresectable Locally Advanced or Stage IV Melanoma	Completed	NCT00110019	Phase 3	Carboplatin;Paclitaxel;Sorafenib Tosylate
47	A Phase III Multi-Institutional Randomized Study of Immunization With the gp100: 209-217 (210M) Peptide Followed by High Dose IL-2 vs. High Dose IL-2 Alone in Patients With Metastatic Melanoma	Completed	NCT00019682	Phase 3	Montanide ISA 51 VG
48	A Randomized, Double-Blind, Multicenter Study Comparing MDX-010 Monotherapy, MDX-010 in Combination With a Melanoma Peptide Vaccine, and Melanoma Vaccine Monotherapy in HLA-A2*0201-Positive Patients With Previously Treated Unresectable Stage III or IV Melanoma	Completed	NCT00094653	Phase 3	MDX-010 (anti-CTLA4) monoclonal antibody
49	Phase III Randomized Study of Dacarbazine With or Without Allovectin-7 in Patients With Metastatic Melanoma	Completed	NCT00003647	Phase 3	allovectin-7;allovectin-7/dacarbazine;dacarbazine
50	Adjuvant Immunotherapy With Anti-CTLA-4 Monoclonal Antibody (Ipilimumab) Versus Placebo After Complete Resection of High Risk Stage III Melanoma: A Randomized, Double-blind Phase 3 Trial of the EORTC Melanoma Group	Completed	NCT00636168	Phase 3	ipilimumab;Placebo

Search NIH Clinical Center for Melanoma

Inferred drug relations via UMLS ⁷¹ / NDF-RT ⁵⁰ :

Aldesleukin

Carmustine

dabrafenib

Dacarbazine

docetaxel

hydroxyurea

Interferon Alfa-2a

Interferon Alfa-2b

INTERFERON ALFA-3N,HUMAN LEUKOCYTE DERIVED

interferon alfacon-1

Interferon gamma-1b

Interferons

Lomustine

peginterferon alfa-2a

peginterferon alfa-2b

pembrolizumab

Procarbazine

Procarbazine Hydrochloride

Recombinant interferon beta-1a

Recombinant interferon beta-1b

temozolomide

trametinib

Vemurafenib

Cell-based therapeutics:

Data from LifeMap, the Embryonic Development and Stem Cells Database

Read about Melanoma cell therapies at LifeMap Discovery.

Stem-cell-based therapeutic approaches for Melanoma:

Tumor infiltrating lymphocytes (TILs) for solid tumors

Embryonic/Adult Cultured Cells Related to Melanoma:

Tumor infiltrating lymphocytes PMIDs: 24329789 19342963 21498393 22996367 19304471 22555974 15800326 23650429 21325070 8170938 12242449 24218514 23904171

Cochrane evidence based reviews: melanoma

Sources

Genetic Tests for Melanoma

Genetic tests related to Melanoma:

#	Genetic test	Affiliating Genes
1	Melanoma ²⁸

Sources

Anatomical Context for Melanoma

Organs/tissues related to Melanoma:

MalaCards : Skin, Lymph Node, T Cells, Brain, Lung, Eye, Breast

Sources

Publications for Melanoma

Articles related to Melanoma:

(show top 50) (show all 55509)

#	Title	Authors	PMID	Year
1	PLX4032, a selective BRAF(V600E) kinase inhibitor, activates the ERK pathway and enhances cell migration and proliferation of BRAF melanoma cells. ⁵³ ⁶² ⁵	Halaban R...Sznol M	20149136	2010
2	Anal mucosal melanoma with KIT-activating mutation and response to imatinib therapy--case report and review of the literature. ⁵³ ⁶² ⁵	Satzger I...Gutzmer R	19996579	2010
3	Analysis of the tyrosine kinome in melanoma reveals recurrent mutations in ERBB4. ⁵³ ⁶² ⁵	Prickett TD...Samuels Y	19718025	2009
4	Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates. ⁵³ ⁶² ⁵	Woodman SE...Davies MA	19671763	2009
5	CRAF inhibition induces apoptosis in melanoma cells with non-V600E BRAF mutations. ⁵³ ⁶² ⁵	Smalley KS...Herlyn M	18794803	2009
6	KIT gene mutations and copy number in melanoma subtypes. ⁵³ ⁶² ⁵	Beadling C...Corless CL	18980976	2008
7	MC1R variants, melanoma and red hair color phenotype: a meta-analysis. ⁵³ ⁶² ⁵	Raimondi S...Fargnoli MC	18366057	2008
8	BRAF and NRAS mutations in melanoma: potential relationships to clinical response to HSP90 inhibitors. ⁵³ ⁶² ⁵	Banerji U...Workman P	18375819	2008
9	Somatic activation of KIT in distinct subtypes of melanoma. ⁵³ ⁶² ⁵	Curtin JA...Bastian BC	16908931	2006
10	Detection of c-kit exons 11- and 17-activating mutations in testicular seminomas by high-resolution melting amplicon analysis. ⁵³ ⁶² ⁵	Willmore-Payne C...Layfield LJ	16741525	2006
11	Distinct sets of genetic alterations in melanoma. ⁵³ ⁶² ⁵	Curtin JA...Bastian BC	16291983	2005
12	Analysis of BRAF mutation in primary and metastatic melanoma. ⁵³ ⁶² ⁵	Libra M...McCubrey JA	16096377	2005
13	Genetic and epigenetic alterations of the APC gene in malignant melanoma. ⁵³ ⁶² ⁵	Worm J...Guldberg P	15133491	2004
14	BRAF mutations in metastatic melanoma: a possible association with clinical outcome. ⁵³ ⁶² ⁵	Kumar R...Hemminki K	12960123	2003
15	Exclusion of BRAFV599E as a melanoma susceptibility mutation. ⁵³ ⁶² ⁵	Meyer P...Garbe C	12794760	2003
16	BRAF and RAS mutations in human lung cancer and melanoma. ⁵³ ⁶² ⁵	Brose MS...Weber BL	12460918	2002
17	Loss of membranous expression of beta-catenin is associated with tumor progression in cutaneous melanoma and rarely caused by exon 3 mutations. ⁵³ ⁶² ⁵	Demunter A...van den Oord JJ	11950921	2002
18	Cytoplasmic and nuclear accumulation of beta-catenin is rarely caused by CTNNB1 exon 3 mutations in cutaneous malignant melanoma. ⁵³ ⁶² ⁵	Omholt K...Hansson J	11351304	2001
19	Identification of PTEN mutations in metastatic melanoma specimens. ⁵³ ⁶² ⁵	Celebi JT...Peacocke M	10978354	2000
20	Frequent nuclear/cytoplasmic localization of beta-catenin without exon 3 mutations in malignant melanoma. ⁵³ ⁶² ⁵	Rimm DL...Fearon ER	10027390	1999
21	Stabilization of beta-catenin by genetic defects in melanoma cell lines. ⁵³ ⁶² ⁵	Rubinfeld B...Polakis P	9065403	1997
22	Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations. ⁶² ⁵	Potrony M...Puig S	26650189	2016
23	Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup. ⁶² ⁵	Bruno W...Bianchi-Scarra G	26775776	2016
24	Primary cross-resistance to BRAFV600E-, MEK1/2- and PI3K/mTOR-specific inhibitors in BRAF-mutant melanoma cells counteracted by dual pathway blockade. ⁶² ⁵	Penna I...Anichini A	26678033	2016
25	MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project. ⁶² ⁵	Tagliabue E...M-SKIP Study Group	26103569	2015
26	Updated field synopsis and systematic meta-analyses of genetic association studies in cutaneous melanoma: the MelGene database. ⁶² ⁵	Antonopoulou K...Stratigos AJ	25407435	2015
27	BRAF and NRAS mutations are heterogeneous and not mutually exclusive in nodular melanoma. ⁶² ⁵	Chiappetta C...Di Cristofano C	24710085	2015
28	Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. ⁶² ⁵	Wadt KA...Gerdes AM	25803691	2015
29	Correlation of BRAF and NRAS mutation status with outcome, site of distant metastasis and response to chemotherapy in metastatic melanoma. ⁶² ⁵	Carlino MS...Long GV	24918823	2014
30	The GIST of targeted therapy for malignant melanoma. ⁶² ⁵	Bello DM...Ariyan CE	24531699	2014
31	Malignant Melanoma with Concurrent BRAF E586K and NRAS Q81K Mutations. ⁶² ⁵	Shackelford R...Nair B	24926260	2014
32	MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors. ⁶² ⁵	Berwick M...GEM Study Group	24406078	2014
33	Prognostic value of BRAF mutations in localized cutaneous melanoma. ⁶² ⁵	Nagore E...Hacker E	24388723	2014
34	Loss of NF1 in cutaneous melanoma is associated with RAS activation and MEK dependence. ⁶² ⁵	Nissan MH...Solit DB	24576830	2014
35	Dabrafenib and trametinib, alone and in combination for BRAF-mutant metastatic melanoma. ⁶² ⁵	Menzies AM...Long GV	24583796	2014
36	Novel ATP-competitive MEK inhibitor E6201 is effective against vemurafenib-resistant melanoma harboring the MEK1-C121S mutation in a preclinical model. ⁶² ⁵	Narita Y...Sawada K	24448821	2014
37	Reversible and adaptive resistance to BRAF(V600E) inhibition in melanoma. ⁶² ⁵	Sun C...Bernards R	24670642	2014
38	Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomised, open-label study. ⁶² ⁵	McArthur GA...Hauschild A	24508103	2014
39	The genetic landscape of clinical resistance to RAF inhibition in metastatic melanoma. ⁶² ⁵	Van Allen EM...Dermatologic Cooperative Oncology Group of Germany (DeCOG)	24265153	2014
40	A novel AKT1 mutant amplifies an adaptive melanoma response to BRAF inhibition. ⁶² ⁵	Shi H...Lo RS	24265152	2014
41	Acquired resistance and clonal evolution in melanoma during BRAF inhibitor therapy. ⁶² ⁵	Shi H...Lo RS	24265155	2014
42	MAP kinase pathway alterations in BRAF-mutant melanoma patients with acquired resistance to combined RAF/MEK inhibition. ⁶² ⁵	Wagle N...Garraway LA	24265154	2014
43	BRAF-V600 mutations have no prognostic impact in stage IV melanoma patients treated with monochemotherapy. ⁶² ⁵	Meckbach D...Weide B	24586605	2014
44	Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients. ⁶² ⁵	Sturm RA...Peter Soyer H	23774529	2014
45	The impact of MITF on melanoma development: news from bench and bedside. ⁶² ⁵	Roider EM...Fisher DE	24352080	2014
46	MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. ⁶² ⁵	Grill C...Steingrimsson E	23787126	2013
47	Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population. ⁶² ⁵	Puig-Butille JA...Puig S	23647022	2013
48	Phase II trial (BREAK-2) of the BRAF inhibitor dabrafenib (GSK2118436) in patients with metastatic melanoma. ⁶² ⁵	Ascierto PA...Trefzer U	23918947	2013
49	Major clinical response to a BRAF inhibitor in a patient with a BRAF L597R-mutated melanoma. ⁶² ⁵	Bahadoran P...Ballotti R	23715574	2013
50	Secondary c-Kit mutations confer acquired resistance to RTK inhibitors in c-Kit mutant melanoma cells. ⁶² ⁵	Todd JR...Rizos H	23582185	2013

Sources

Genes for Melanoma

Genes/enhancers related to Melanoma (20 elite genes):

(show top 50) (show all 464)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	483.36	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries Pathways & Interactions (show sections)	2493360 12068308 12198537 (more) 12447372 12460918 12460919 12619120 12644542 12670889 12794760 12960123 14513361 14602780 14679157 15001635 15126572 15181070 15342696 15356022 15386408 15687339 15998781 16015629 16174717 16187918 16772349 17374713 17488796 17785355 18398503 18794803 19010912 19238210 19404918 19571295 20141835 20551065 20630094 20818844 20823850 21107320 21107323 21156289 21483012 21639808 22048237 22113612 22281684 22351686 22356324 22389471 22536370 22608338 22649091 22663011 22735384 22743296 22798288 22805292 22972589 22997239 23020132 23031422 23237741 23248257 23302800 23317446 23524406 23614898 23685455 23715574 23833300 23918947 24388723 24508103 24512911 24576830 24583796 24586605 24670642 24717435 25079330 25157968 25370471 25656898 26678033 28854169 29925953 2872605 16096377 18060073 20130576 21750866 23273605 24710085 24918823 24926260 15824163 15917418 17699719 15060100 16845322 18402768 12810628 15694309 15009714 19398955 19383316 15140228 18374154 16899595 20182446 16291983 12873977 16354196 14691295 18368129 18227705 16474847 14501284 16567964 15503312 17001349 14695152 15208655 15277467 15024080 19509136 18715233 16799476 18375819 18790768 18458053 15657897 15588860 14722037 19493000 17210691 16410717 16096402 17372901 16098042 15834638 15735667 15948115 15014028 12873990 12778069 20401974 16773193 15737846 15641040 15005091 18515281 19226609 16908931 14708620 19649202 18787543 17507627 17492934 15331929 15195137 17690212 17208430 15313890 19571821 19861964 17885757 16647948 15048078 12917419 14522889 19461239 16609049 16255777 15330192 15191558 15161700 18473997 18650848 17311103 16462768 14961576 19919912 14695143 15688405 16052531 20525481 20068179 19483722
2	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	482.74	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Pathways & Interactions (show sections)	21609436 25157968 16331607 (more) 16234564 11156381 17091256 15856016 9598804 19484507 19011513 18402768 7624155 10338331 8631588 7923152 15837753 9221801 19519606 8895759 10400925 9204956 9416844 12783933 10922411 14719109 9579564 20189796 9856841 9354451 9247305 16880792 11477665 10951521 20154275 17505264 18505964 10719365 10070944 9516223 8751963 15657897 10987867 9694617 9036865 8746340 16397522 12759390 7651729 12296515 7747814 8611425 18023021 17492760 16172233 12459645 12454511 9393758 8570179 17218939 15297971 10380935 9620301 8710906 19571771 12459643 10738302 18983535 15945100 15577313 11876522 9603434 9168184 7585628 7478563 19149898 18795926 18178632 9617435 7647780 7987388 8595405 7796391 11221846 10999737 9328469 12175554 16920642 7670475 9462707 9355977 9097983 8791272 17300231 16462187 16214921 15596294 15547691 15146471 12406345 11287287 8562340
3	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	471.91	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Pathways & Interactions (show sections)	2674680 8120410 16291983 (more) 18375819 18390968 20130576 20149136 20179705 20406486 21107323 21576590 22761467 22962325 23076151 23414587 23431193 23538902 23569304 23614898 25157968 24918823 15917418 18227705 19509136 16899595 16098042 20404912 15009714 16908931 16845322 19319568 16462768 17372901 20140953 18679422 14522897 19226609 18615679 19441164 19383313 14695152 20118982 19264228 18532874 17119447 16567964 18509361 19568237 19671679 16845325 16273242 17507627 14681681 20096196 17260012 18323787 15195137 19244105 19759551 19571821 19571822
4	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	471.4	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries Pathways & Interactions (show sections)	19915144 21107320 21383288 (more) 22197931 22588879 22622578 23569304 24448821 25157968 23444215 23614898 19411838 15557124 11254111 12771938 11287623 17304627 18826602
5	KIT	KIT Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	468.56	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Summaries Pathways & Interactions (show sections)	7530509 9438854 11276010 (more) 15790786 16046538 16908931 17372901 18421059 18510589 18936790 18955458 18980976 19671763 19812602 19996579 20088873 21131919 21159146 21569090 21642685 21690468 21969494 22160160 22261812 22355224 22357254 22932406 23582185 23775962 24531699 24661573 25157968 16741525 20545949 24755198 19283671 19047099 16034302 7687762 19018266 19718013 20372153 9687504 19509136 19652585 19035443 19264228 19158841 8957075 18632627 9365536 19802003 8640066 9310959 10780526 19847190 15272532 19118061 20525481 19496203 1372524 19319568 18728664 14634801 20360932 15223779 9171936 18066592 17327598 9207920 17903613 19788535 15145934 18486988 18615679 17611626 17492934 16767900 15870711 20032377 16630177 16565971 8541720 7509778 19617296 19500183 18223323 12789289 9632718 15542802 10698217 17885757 18074824 1371338 16778827 9810513
	KIT::MIR221 ⁴⁶	MIR221 Macro RNA (hsa-miR-221) targets KIT
	KIT::MIR222 ⁴⁶	MIR222 Macro RNA (hsa-miR-222) targets KIT
6	CTNNB1	Catenin Beta 1	Protein Coding	457.56	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Functions (show sections)	9065403 10027390 11351304 (more) 11930117 11950921 12124804 15133491 25157968 19234609 16146765 11594745 11531781 16371504 18563180 17302608 19144919 18822385 17970806 15987741 16361544 19183173 10699468 17868395 12960126 12235125 18384130 16239965 10503270 14583455 14989490 10667221 11245482 10621837 20139375 17380482 12183361 10811985 18276111 17000761 19201106 12494474 18829533 17260012 10596908 20236250 11585772 16357171 10549354 8642260 16116595 15986143 15191558 10209480 9537226 10580987 18602000 19067970 18454174 10201372 15300212
7	PTEN	Phosphatase And Tensin Homolog	Protein Coding	450.97	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Pathways & Interactions Functions (show sections)	10978354 11948493 11021816 (more) 14576666 16571650 16818626 19264228 10881743 12435856 9764804 12459646 16146807 18519684 19329485 17302605 20173664 16609049 16273242 15009714 19336517 15195137 11221509 18353141 17260012 15986137 15596045 12821943 19493313 19400696 18086245 18289047 20029030 19282848 12297295 10051603 9467011 16487009 15526363 12203792 19175524 18627528 12669234 10446968 9823969 19340009 19047166 17907961 10766161 10092130 16861905 11595133 15663508 16193861
7	PTEN::MIR19A ⁴⁶	MIR19A Macro RNA (hsa-miR-19a) targets PTEN
8	GNAQ	G Protein Subunit Alpha Q	Protein Coding	425.08	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	1328859 2549426 18719078 (more) 19078957 21083380 22253748 22653968 22733540 22808163
9	GNA11	G Protein Subunit Alpha 11	Protein Coding	424.36	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	1328859 2549426 21083380 (more) 22733540 22808163
10	MIR34A	MicroRNA 34a	RNA Gene	417.74	Causal ⁴⁶ Unspecified ⁴⁶ DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)	19029026 19830692
11	MIR182	MicroRNA 182	RNA Gene	413.53	Causal ⁴⁶ Unspecified ⁴⁶ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	19188590 18379589
12	MIR222	MicroRNA 222	RNA Gene	413.43	Causal ⁴⁶ Unspecified ⁴⁶ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	18417445 18379589
13	MIR193B	MicroRNA 193b	RNA Gene	408.58	Causal ⁴⁶ Unspecified ⁴⁶ DISEASES inferred ¹⁴ ¹⁴	20304954 20357817
14	MIR23B	MicroRNA 23b	RNA Gene	408.32	Causal ⁴⁶ Unspecified ⁴⁶ DISEASES inferred ¹⁴ ¹⁴	20442294 18379589
15	FBN1	Fibrillin 1	Protein Coding	404.3	Pathogenic ⁵ DISEASES inferred ¹⁴
16	SNAPC5	Small Nuclear RNA Activating Complex Polypeptide 5	Protein Coding	400	Pathogenic ⁵	22197931
17	MIR221	MicroRNA 221	RNA Gene	367.59	Causal ⁴⁶ DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)	18417445
18	MIR205	MicroRNA 205	RNA Gene	366.91	Causal ⁴⁶ DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)	20442294
19	MIRLET7B	MicroRNA Let-7b	RNA Gene	359.53	Causal ⁴⁶ DISEASES inferred ¹⁴ ¹⁴	18379589
20	MIR532	MicroRNA 532	RNA Gene	358.1	Causal ⁴⁶ DISEASES inferred ¹⁴ ¹⁴	19336521
21	CXCL8	C-X-C Motif Chemokine Ligand 8	Protein Coding	173.11	Experimental evidence: Expression ³⁷ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	28723760 8360485 9873223 (more) 7758001 10629556 9327744 10487833 2190552 12939465 10963128 8877727 12471616 16393674 10504057 19794965 11864912 9858136 7640519 11208853 10976534 19801670 9537260 19443406 12530093 15975819 9618723 19683430 19721189 16114015 16708476 10629075 8205546 18996182 7575568 1875058 8873050 17141217 7615019 17575149 12738812 8384312 8608953 18347137 1450672 8810307 14713106 8951539 1721641 11429164 10669855 10096249 16965268 7543020 12883364 10987309 7689250 9029113 10843728 10985667 7922353 7517400 8245475 8363581 2037605 20181932 19627587 16885380 16185062 7537088 7509778 8216423 18717605 16489061 16154563 15123733 11870523 11035078 15133028 9373270 9013980 7485389 7551561 8175642 8454034 1316786 19569239 8702597 8631339 7995953 7917314 1910690 19401689 19308689 18974154 11406569 11054726 9169487 8576166 8530498 7783427
22	SAMMSON	Survival Associated Mitochondrial Melanoma Specific Oncogenic Non-Coding RNA	RNA Gene	172.68	Experimental evidence ³⁷ DISEASES inferred ¹⁴ GeneCards inferred via : Publications Gene name (show sections)	27008969 27056832 27165740
23	SPRY4-IT1	SPRY4 Intronic Transcript 1	RNA Gene	171.59	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)	21558391 22492512 24115003 (more) 25344859 27239436
24	STAT1	Signal Transducer And Activator Of Transcription 1	Protein Coding	170.9	Experimental evidence: Expression ³⁷ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	28723760 9605150 9748142 (more) 14732359 15668815 19396596 9353349 16169484 18453571 20180146 15009724 19723881 19032371 10072444 17785551 17488182 15339971 20103601 20398276 12926238 15826948 19509154
25	RMEL3	Enriched In Melanoma 3	RNA Gene	165.98	Experimental evidence: Regulation ³⁷ GeneCards inferred via : Publications Gene name (show sections)	27167340
26	CDKN2B-AS1	CDKN2B Antisense RNA 1	RNA Gene	163.53	Experimental evidence: Expression ³⁷ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	17440112 20386740 20956613 (more) 21489289 21550244 27461581 28653984
27	BANCR	BRAF-Activated Non-Protein Coding RNA	RNA Gene	163.16	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	22581800 24115003 24967732 (more) 25742304
28	PVT1	Pvt1 Oncogene	RNA Gene	162.94	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	28265576
29	CASC15	Cancer Susceptibility 15	RNA Gene	162.59	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	26016895
30	MALAT1	Metastasis Associated Lung Adenocarcinoma Transcript 1	RNA Gene	161.88	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	19625619 24892958 27016304 (more) 27564100
31	H19	H19 Imprinted Maternally Expressed Transcript	RNA Gene	161.05	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	11437411 19968822 20483645 (more) 27016304 29350287
32	HOTAIR	HOX Transcript Antisense RNA	RNA Gene	156.16	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴	23862139
33	UCA1	Urothelial Cancer Associated 1	RNA Gene	155.74	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴	24892958 27016304 27389544
34	LINC-ROR	Long Intergenic Non-Protein Coding RNA, Regulator Of Reprogramming	RNA Gene	155.66	Experimental evidence ³⁷ DISEASES inferred ¹⁴	26169368 27043545
35	GAS5	Growth Arrest Specific 5	RNA Gene	155.64	Experimental evidence: Interaction ³⁷ DISEASES inferred ¹⁴	18836484 26846479 27445498 (more) 28386376
36	CCL27	C-C Motif Chemokine Ligand 27	Protein Coding	155.6	Experimental evidence: Expression ³⁷ DISEASES inferred ¹⁴	28723760
37	XIST	X Inactive Specific Transcript	RNA Gene	155.4	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴	27016304
38	COL17A1	Collagen Type XVII Alpha 1 Chain	Protein Coding	154.91	Experimental evidence: Expression ³⁷ DISEASES inferred ¹⁴	28723760
39	LINC00673	Long Intergenic Non-Protein Coding RNA 673	RNA Gene	154.9	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴	27210747
40	ILF3-DT	ILF3 Divergent Transcript	RNA Gene	154.83	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴	28935763
41	SNHG5	Small Nucleolar RNA Host Gene 5	RNA Gene	154.82	Experimental evidence: Expression ³⁷ DISEASES inferred ¹⁴	26440365
41	SNHG5::GH06J085493	TSS distance: +184.8kb Elite enhancer with elite association with SNHG5			Curated enhancer-disease association ²³ ¹³	28033303
42	SOX2-OT	SOX2 Overlapping Transcript	RNA Gene	154.41	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴	27016304
43	HOTAIRM1	HOXA Transcript Antisense RNA, Myeloid-Specific 1	RNA Gene	154.08	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴	27016304
44	LINC01324	Long Intergenic Non-Protein Coding RNA 1324	RNA Gene	154.06	Experimental evidence: Expression ³⁷ DISEASES inferred ¹⁴	29436619
45	PAUPAR	PAX6 Upstream Antisense RNA	RNA Gene	154	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴	27214741
46	HOXA-AS2	HOXA Cluster Antisense RNA 2	RNA Gene	153.87	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴	27016304
47	MEG3	Maternally Expressed 3	RNA Gene	153.68	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴	27016304
48	LINC00707	Long Intergenic Non-Protein Coding RNA 707	RNA Gene	153.32	Experimental evidence: Expression ³⁷ DISEASES inferred ¹⁴	29436619
49	LINC00032	Long Intergenic Non-Protein Coding RNA 32	RNA Gene	153.18	Experimental evidence: Mutation ³⁷ DISEASES inferred ¹⁴	17099875
50	RMST	Rhabdomyosarcoma 2 Associated Transcript	RNA Gene	152.81	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴	27016304

Sources

Variations for Melanoma

ClinVar genetic disease variations for Melanoma:

⁵ (show top 50) (show all 176)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	MAP2K1	NM_002755.4(MAP2K1):c.607G>A (p.Glu203Lys)	SNV	Pathogenic	375982	rs1057519733	GRCh37: 15:66774131-66774131 GRCh38: 15:66481793-66481793
2	NRAS	NM_002524.5(NRAS):c.35G>T (p.Gly12Val)	SNV	Pathogenic	40470	rs121913237	GRCh37: 1:115258747-115258747 GRCh38: 1:114716126-114716126
3	KIT	NM_000222.3(KIT):c.1676T>A (p.Val559Asp)	SNV	Pathogenic	13856	rs121913517	GRCh37: 4:55593610-55593610 GRCh38: 4:54727444-54727444
4	KIT	NM_000222.3(KIT):c.1965T>A (p.Asn655Lys)	SNV	Pathogenic	375923	rs1057519708	GRCh37: 4:55594262-55594262 GRCh38: 4:54728096-54728096
5	KIT	NM_000222.3(KIT):c.1676T>G (p.Val559Gly)	SNV	Pathogenic	375912	rs121913517	GRCh37: 4:55593610-55593610 GRCh38: 4:54727444-54727444
6	NRAS	NM_002524.5(NRAS):c.38G>C (p.Gly13Ala)	SNV	Pathogenic	375877	rs121434596	GRCh37: 1:115258744-115258744 GRCh38: 1:114716123-114716123
7	KIT	NM_000222.3(KIT):c.1669T>A (p.Trp557Arg)	SNV	Pathogenic	375908	rs121913235	GRCh37: 4:55593603-55593603 GRCh38: 4:54727437-54727437
8	KIT	NM_000222.3(KIT):c.1679T>A (p.Val560Asp)	SNV	Pathogenic	375914	rs121913521	GRCh37: 4:55593613-55593613 GRCh38: 4:54727447-54727447
9	KIT	NM_000222.3(KIT):c.1679T>G (p.Val560Gly)	SNV	Pathogenic	375916	rs121913521	GRCh37: 4:55593613-55593613 GRCh38: 4:54727447-54727447
10	KIT	NM_000222.3(KIT):c.2485G>C (p.Ala829Pro)	SNV	Pathogenic	375933	rs1057519713	GRCh37: 4:55602664-55602664 GRCh38: 4:54736498-54736498
11	BRAF	NM_004333.6(BRAF):c.1798_1799delinsAA (p.Val600Lys)	INDEL	Pathogenic	375941	rs121913227	GRCh37: 7:140453136-140453137 GRCh38: 7:140753336-140753337
12	CTNNB1	NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr)	SNV	Pathogenic	375895	rs121913409	GRCh37: 3:41266137-41266137 GRCh38: 3:41224646-41224646
13	BRAF	NM_004333.6(BRAF):c.1799_1800delinsAT (p.Val600Asp)	INDEL	Pathogenic	375939	rs121913377	GRCh37: 7:140453135-140453136 GRCh38: 7:140753335-140753336
14	KIT	NM_000222.3(KIT):c.1650A>T (p.Lys550Asn)	SNV	Pathogenic	375906	rs1057519703	GRCh37: 4:55593584-55593584 GRCh38: 4:54727418-54727418
15	GNAQ	NM_002072.5(GNAQ):c.626A>C (p.Gln209Pro)	SNV	Pathogenic	375957	rs121913492	GRCh37: 9:80409488-80409488 GRCh38: 9:77794572-77794572
16	GNA11	NM_002067.5(GNA11):c.626A>T (p.Gln209Leu)	SNV	Pathogenic	376002	rs1057519742	GRCh37: 19:3118942-3118942 GRCh38: 19:3118944-3118944
17	NRAS	NM_002524.5(NRAS):c.182_183delinsGG (p.Gln61Arg)	INDEL	Pathogenic	375873	rs1057519695	GRCh37: 1:115256528-115256529 GRCh38: 1:114713907-114713908
18	GNA11	NM_002067.5(GNA11):c.626A>C (p.Gln209Pro)	SNV	Pathogenic	376001	rs1057519742	GRCh37: 19:3118942-3118942 GRCh38: 19:3118944-3118944
19	BRAF	NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)	SNV	Pathogenic	13972	rs121913338	GRCh37: 7:140453154-140453154 GRCh38: 7:140753354-140753354
20	GNAQ	NM_002072.5(GNAQ):c.626A>T (p.Gln209Leu)	SNV	Pathogenic	375955	rs121913492	GRCh37: 9:80409488-80409488 GRCh38: 9:77794572-77794572
21	NRAS	NM_002524.5(NRAS):c.181C>G (p.Gln61Glu)	SNV	Pathogenic	375875	rs121913254	GRCh37: 1:115256530-115256530 GRCh38: 1:114713909-114713909
22	BRAF	NM_004333.6(BRAF):c.1779_1780delinsGA (p.Asp594Asn)	INDEL	Pathogenic	375948	rs1057519718	GRCh37: 7:140453155-140453156 GRCh38: 7:140753355-140753356
23	KIT	NM_000222.3(KIT):c.1961T>C (p.Val654Ala)	SNV	Pathogenic	375921	rs121913523	GRCh37: 4:55594258-55594258 GRCh38: 4:54728092-54728092
24	KIT	NM_000222.3(KIT):c.2458G>C (p.Asp820His)	SNV	Pathogenic	375927	rs1057519710	GRCh37: 4:55599332-55599332 GRCh38: 4:54733166-54733166
25	KIT	NM_000222.3(KIT):c.1965T>G (p.Asn655Lys)	SNV	Pathogenic	375924	rs1057519708	GRCh37: 4:55594262-55594262 GRCh38: 4:54728096-54728096
26	BRAF	NM_004333.6(BRAF):c.1782T>G (p.Asp594Glu)	SNV	Pathogenic	375944	rs121913337	GRCh37: 7:140453153-140453153 GRCh38: 7:140753353-140753353
27	KIT	NM_000222.3(KIT):c.2446G>C (p.Asp816His)	SNV	Pathogenic	13863	rs121913506	GRCh37: 4:55599320-55599320 GRCh38: 4:54733154-54733154
28	KIT	NM_000222.3(KIT):c.2466T>G (p.Asn822Lys)	SNV	Pathogenic	375932	rs121913514	GRCh37: 4:55599340-55599340 GRCh38: 4:54733174-54733174
29	BRAF	NM_004333.6(BRAF):c.1798G>A (p.Val600Met)	SNV	Pathogenic	44815	rs121913378	GRCh37: 7:140453137-140453137 GRCh38: 7:140753337-140753337
30	KIT	NM_000222.3(KIT):c.1510T>C (p.Phe504Leu)	SNV	Pathogenic	375904	rs1057519702	GRCh37: 4:55592186-55592186 GRCh38: 4:54726020-54726020
31	MAP2K1	NM_002755.4(MAP2K1):c.790C>T (p.Pro264Ser)	SNV	Pathogenic	375983	rs1057519734	GRCh37: 15:66777424-66777424 GRCh38: 15:66485086-66485086
32	BRAF	NM_004333.6(BRAF):c.1790T>A (p.Leu597Gln)	SNV	Pathogenic	76687	rs121913366	GRCh37: 7:140453145-140453145 GRCh38: 7:140753345-140753345
33	NRAS	NM_002524.5(NRAS):c.182A>C (p.Gln61Pro)	SNV	Pathogenic	280409	rs11554290	GRCh37: 1:115256529-115256529 GRCh38: 1:114713908-114713908
34	KIT	NM_000222.3(KIT):c.1679T>C (p.Val560Ala)	SNV	Pathogenic	375915	rs121913521	GRCh37: 4:55593613-55593613 GRCh38: 4:54727447-54727447
35	MAP2K1	NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser)	SNV	Pathogenic	375981	rs1057519732	GRCh37: 15:66729162-66729162 GRCh38: 15:66436824-66436824
36	MAP2K1	NM_002755.4(MAP2K1):c.332T>G (p.Ile111Ser)	SNV	Pathogenic	375979	rs1057519730	GRCh37: 15:66729124-66729124 GRCh38: 15:66436786-66436786
37	KIT	NM_000222.3(KIT):c.1657T>A (p.Tyr553Asn)	SNV	Pathogenic	375907	rs1057519704	GRCh37: 4:55593591-55593591 GRCh38: 4:54727425-54727425
38	BRAF	NM_004333.6(BRAF):c.1781A>T (p.Asp594Val)	SNV	Pathogenic	375946	rs121913338	GRCh37: 7:140453154-140453154 GRCh38: 7:140753354-140753354
39	KIT	NM_000222.3(KIT):c.1696A>G (p.Asn566Asp)	SNV	Pathogenic	375917	rs1057519705	GRCh37: 4:55593630-55593630 GRCh38: 4:54727464-54727464
40	BRAF	NM_004333.6(BRAF):c.1780G>C (p.Asp594His)	SNV	Pathogenic	375947	rs397516896	GRCh37: 7:140453155-140453155 GRCh38: 7:140753355-140753355
41	MAP2K1	NM_002755.4(MAP2K1):c.157T>C (p.Phe53Leu)	SNV	Pathogenic	375977	rs1057519728	GRCh37: 15:66727441-66727441 GRCh38: 15:66435103-66435103
42	CTNNB1	NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe)	SNV	Pathogenic	17588	rs121913409	GRCh37: 3:41266137-41266137 GRCh38: 3:41224646-41224646
43	NRAS	NM_002524.5(NRAS):c.182A>T (p.Gln61Leu)	SNV	Pathogenic	375874	rs11554290	GRCh37: 1:115256529-115256529 GRCh38: 1:114713908-114713908
44	KIT	NM_000222.3(KIT):c.1674G>T (p.Lys558Asn)	SNV	Pathogenic	375911	rs200375589	GRCh37: 4:55593608-55593608 GRCh38: 4:54727442-54727442
45	KIT	NM_000222.3(KIT):c.2466T>A (p.Asn822Lys)	SNV	Pathogenic	375931	rs121913514	GRCh37: 4:55599340-55599340 GRCh38: 4:54733174-54733174
46	KIT	NM_000222.3(KIT):c.2465A>T (p.Asn822Ile)	SNV	Pathogenic	375930	rs993022333	GRCh37: 4:55599339-55599339 GRCh38: 4:54733173-54733173
47	KIT	NM_000222.3(KIT):c.2458G>T (p.Asp820Tyr)	SNV	Pathogenic	375928	rs1057519710	GRCh37: 4:55599332-55599332 GRCh38: 4:54733166-54733166
48	KIT	NM_000222.3(KIT):c.1964A>G (p.Asn655Ser)	SNV	Pathogenic	375922	rs1057519707	GRCh37: 4:55594261-55594261 GRCh38: 4:54728095-54728095
49	BRAF	NM_004333.6(BRAF):c.1782T>A (p.Asp594Glu)	SNV	Pathogenic	375945	rs121913337	GRCh37: 7:140453153-140453153 GRCh38: 7:140753353-140753353
50	BRAF	NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg)	SNV	Pathogenic	13968	rs121913366	GRCh37: 7:140453145-140453145 GRCh38: 7:140753345-140753345

Cosmic variations for Melanoma:

⁸ (show top 50) (show all 1725)

#	Cosmic Mut ID	Gene Symbol	COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype)	Mutation CDS	Mutation AA	GRCh38 Location	Conf
1	COSM88595561	PREX2	skin,back,malignant melanoma,superficial spreading	c.4165G>A	p.E1389K	8:68146286-68146286	11
2	COSM88574860	PREX2	skin,back,malignant melanoma,superficial spreading	c.2531G>A	p.G844D	8:68097179-68097179	11
3	COSM93672521	NF1	skin,back,malignant melanoma,nodular	c.3028C>T	p.Q1010*	17:31230297-31230297	11
4	COSM93525440	NF1	skin,back,malignant melanoma,nodular	c.3028C>T	p.Q1010*	17:31230297-31230297	11
5	COSM91859752	KRAS	skin,back,malignant melanoma,superficial spreading	c.35G>T	p.G12V	12:25245350-25245350	11
6	COSM134990158	KRAS	skin,back,malignant melanoma,superficial spreading	c.35G>T	p.G12V	12:25245350-25245350	11
7	COSM150563774	BRAF	skin,back,malignant melanoma,superficial spreading	c.1799T>A	p.V600E	7:140753336-140753336	11
8	COSM88834639	BRAF	skin,back,malignant melanoma,superficial spreading	c.1910T>G	p.L637R	7:140753345-140753345	11
9	COSM149460904	BRAF	skin,back,malignant melanoma,nodular	c.1904T>C	p.F635S	7:140753351-140753351	11
10	COSM118886840	BRAF	skin,back,malignant melanoma,superficial spreading	c.1814G>A	p.S605N	7:140753321-140753321	11
11	COSM150585368	BRAF	skin,back,malignant melanoma,superficial spreading	c.1790T>G	p.L597R	7:140753345-140753345	11
12	COSM150623748	BRAF	skin,back,malignant melanoma,nodular	c.1784T>C	p.F595S	7:140753351-140753351	11
13	COSM118818356	BRAF	skin,back,malignant melanoma,superficial spreading	c.1817G>A	p.G606E	7:140753318-140753318	11
14	COSM149491596	BRAF	skin,back,malignant melanoma,superficial spreading	c.1934G>A	p.S645N	7:140753321-140753321	11
15	COSM150645318	BRAF	skin,back,malignant melanoma,superficial spreading	c.1814G>A	p.S605N	7:140753321-140753321	11
16	COSM149420177	BRAF	skin,back,malignant melanoma,superficial spreading	c.1937G>A	p.G646E	7:140753318-140753318	11
17	COSM142567400	TP53	skin,back,malignant melanoma,NS	c.716C>T	p.P239L	17:7673787-7673787	10
18	COSM121885235	TP53	skin,back,malignant melanoma,NS	c.437C>T	p.P146L	17:7673787-7673787	10
19	COSM106060507	TP53	skin,back,malignant melanoma,NS	c.833C>T	p.P278L	17:7673787-7673787	10
20	COSM144020824	TP53	skin,back,malignant melanoma,NS	c.800C>T	p.P267L	17:7673787-7673787	10
21	COSM144316210	TP53	skin,back,malignant melanoma,NS	c.716C>T	p.P239L	17:7673787-7673787	10
22	COSM122741114	TP53	skin,back,malignant melanoma,NS	c.437C>T	p.P146L	17:7673787-7673787	10
23	COSM145025441	TP53	skin,back,malignant melanoma,NS	c.716C>T	p.P239L	17:7673787-7673787	10
24	COSM142842830	TP53	skin,back,malignant melanoma,NS	c.833C>T	p.P278L	17:7673787-7673787	10
25	COSM105628150	TP53	skin,back,malignant melanoma,NS	c.782+394C>T	p.?	17:7673787-7673787	10
26	COSM93191448	TP53	skin,back,malignant melanoma,NS	c.833C>T	p.P278L	17:7673787-7673787	10
27	COSM143163088	TP53	skin,back,malignant melanoma,NS	c.356C>T	p.P119L	17:7673787-7673787	10
28	COSM87906968	TP53	skin,back,malignant melanoma,NS	c.833C>T	p.P278L	17:7673787-7673787	10
29	COSM111766659	TP53	skin,back,malignant melanoma,NS	c.833C>T	p.P278L	17:7673787-7673787	10
30	COSM144092456	TP53	skin,back,malignant melanoma,NS	c.356C>T	p.P119L	17:7673787-7673787	10
31	COSM112260509	TP53	skin,back,malignant melanoma,NS	c.833C>T	p.P278L	17:7673787-7673787	10
32	COSM144659648	TP53	skin,back,malignant melanoma,NS	c.716C>T	p.P239L	17:7673787-7673787	10
33	COSM122278834	TP53	skin,back,malignant melanoma,NS	c.437C>T	p.P146L	17:7673787-7673787	10
34	COSM143950269	TP53	skin,back,malignant melanoma,NS	c.356C>T	p.P119L	17:7673787-7673787	10
35	COSM143378660	TP53	skin,back,malignant melanoma,NS	c.716C>T	p.P239L	17:7673787-7673787	10
36	COSM127268277	RUNX1T1	skin,back,malignant melanoma,NS	c.317C>T	p.S106F	8:92014730-92014730	10
37	COSM102697463	RUNX1T1	skin,back,malignant melanoma,NS	c.236C>T	p.S79F	8:92014730-92014730	10
38	COSM107534814	RUNX1T1	skin,back,malignant melanoma,NS	c.206C>T	p.S69F	8:92014730-92014730	10
39	COSM107750873	RUNX1T1	skin,back,malignant melanoma,NS	c.494C>T	p.S165F	8:92014730-92014730	10
40	COSM126081831	RUNX1T1	skin,back,malignant melanoma,NS	c.206C>T	p.S69F	8:92014730-92014730	10
41	COSM142877786	RUNX1T1	skin,back,malignant melanoma,NS	c.257C>T	p.S86F	8:92014730-92014730	10
42	COSM144452106	RUNX1T1	skin,back,malignant melanoma,NS	c.317C>T	p.S106F	8:92014730-92014730	10
43	COSM145062022	RUNX1T1	skin,back,malignant melanoma,NS	c.317C>T	p.S106F	8:92014730-92014730	10
44	COSM127444375	RUNX1T1	skin,back,malignant melanoma,NS	c.236C>T	p.S79F	8:92014730-92014730	10
45	COSM127799331	RUNX1T1	skin,back,malignant melanoma,NS	c.350C>T	p.S117F	8:92014730-92014730	10
46	COSM85777096	RUNX1T1	skin,back,malignant melanoma,NS	c.317C>T	p.S106F	8:92014730-92014730	10
47	COSM142258385	RUNX1T1	skin,back,malignant melanoma,NS	c.317C>T	p.S106F	8:92014730-92014730	10
48	COSM96031395	RUNX1T1	skin,back,malignant melanoma,NS	c.206C>T	p.S69F	8:92014730-92014730	10
49	COSM143432869	RUNX1T1	skin,back,malignant melanoma,NS	c.236C>T	p.S79F	8:92014730-92014730	10
50	COSM88245406	RPTOR	skin,back,malignant melanoma,NS	c.484G>A	p.G162R	17:80707976-80707976	10

Copy number variations for Melanoma from CNVD:

⁶ (show top 50) (show all 1973)

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	13791	1	1	46500000	Insertion		Melanoma
2	13897	1	1007060	1041599	Amplification	C1orf159	Melanoma
3	14968	1	111600000	148000000	Deletion		Melanoma
4	15008	1	111800000	116100000	Gain	NRAS	Melanoma
5	15387	1	115048600	115061038	Gain	NRAS	Melanoma
6	18715	1	147200000	149200000	Ampfication	SETDB1	Melanoma
7	20086	1	15300000	247249719	Insertion		Melanoma
8	21281	7	92072170	92303813	Gain	CDK6	Malignant melanoma
9	24543	1	182188599	196365692	Amplification	ASPM	Melanoma
10	24544	1	182188599	196365692	Amplification	ATP6V1G3	Melanoma
11	24545	1	182188599	196365692	Amplification	B3GALT2	Melanoma
12	24546	1	182188599	196365692	Amplification	ODR4	Melanoma
13	24547	1	182188599	196365692	Amplification	C1orf53	Melanoma
14	24548	1	182188599	196365692	Amplification	ERVMER61-1	Melanoma
15	24549	1	182188599	196365692	Amplification	CDC73	Melanoma
16	24550	1	182188599	196365692	Amplification	CFH	Melanoma
17	24551	1	182188599	196365692	Amplification	CFHR1	Melanoma
18	24552	1	182188599	196365692	Amplification	CFHR2	Melanoma
19	24553	1	182188599	196365692	Amplification	CFHR3	Melanoma
20	24554	1	182188599	196365692	Amplification	CFHR4	Melanoma
21	24555	1	182188599	196365692	Amplification	CFHR5	Melanoma
22	24556	1	182188599	196365692	Amplification	CRB1	Melanoma
23	24557	1	182188599	196365692	Amplification	DENND1B	Melanoma
24	24558	1	182188599	196365692	Amplification	F13B	Melanoma
25	24559	1	182188599	196365692	Amplification	BRINP3	Melanoma
26	24560	1	182188599	196365692	Amplification	GLRX2	Melanoma
27	24561	1	182188599	196365692	Amplification	HMCN1	Melanoma
28	24562	1	182188599	196365692	Amplification	KCNT2	Melanoma
29	24563	1	182188599	196365692	Amplification	LHX9	Melanoma
30	24564	1	182188599	196365692	Amplification	NEK7	Melanoma
31	24565	1	182188599	196365692	Amplification		Melanoma
32	24566	1	182188599	196365692	Amplification	PDC	Melanoma
33	24567	1	182188599	196365692	Amplification	PLA2G4A	Melanoma
34	24568	1	182188599	196365692	Amplification	PRG4	Melanoma
35	24569	1	182188599	196365692	Amplification	PTGS2	Melanoma
36	24570	1	182188599	196365692	Amplification	PTPRC	Melanoma
37	24571	1	182188599	196365692	Amplification	RGS1	Melanoma
38	24572	1	182188599	196365692	Amplification	RGS13	Melanoma
39	24573	1	182188599	196365692	Amplification	RGS18	Melanoma
40	24574	1	182188599	196365692	Amplification	RGS2	Melanoma
41	24575	1	182188599	196365692	Amplification	RGS21	Melanoma
42	24576	1	182188599	196365692	Amplification	TPR	Melanoma
43	24577	1	182188599	196365692	Amplification	RO60	Melanoma
44	24578	1	182188599	196365692	Amplification	UCHL5	Melanoma
45	24579	1	182188599	196365692	Amplification	ZBTB41	Melanoma
46	26238	1	198304656	198310281	Deletion		Melanoma
47	29172	1	228366540	228914590	LOH		Melanoma
48	29295	1	2300000	46500000	Insertion		Melanoma
49	29296	1	2300000	46500000	Insertion		Melanoma
50	30306	1	241700000	247249719	Insertion		Melanoma

Sources

Expression for Melanoma

Search GEO for disease gene expression data for Melanoma.

Sources

Pathways for Melanoma

Pathways directly related to Melanoma:

#	Pathway	Source
1	Defective pyroptosis	Reactome ⁶⁶

Pathways related to Melanoma according to GeneCards Suite gene sharing:

(show all 48)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.77	BRAF CDKN2A CTNNB1 FBN1 GNA11 KIT
2	Signal Transduction ⁶⁶	13.73	BRAF CTNNB1 FBN1 GNA11 GNAQ KIT
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	13.41	BRAF CDKN2A CTNNB1 GNA11 GNAQ MAP2K1
4	Integrin Pathway ⁶⁴ Show member pathways FAK1 Signaling ⁶⁴ GnRH Signaling ⁶⁴ Inhibition of Angiogenesis by TSP1 ⁶⁴ Transendothelial Migration of Leukocytes ⁶⁴ UPA-UPAR Pathway ⁶⁴	13.37	BRAF CTNNB1 FBN1 GNA11 MAP2K1 NRAS
5	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.96	PTEN NRAS MAP2K1 KIT GNA11 FBN1
6	Sertoli-Sertoli Cell Junction Dynamics ⁶⁴ Show member pathways Epithelial Tight Junctions ⁶⁴ Germ Cell-Sertoli Cell Junction Dynamics ⁶⁴	12.89	PTEN NRAS MAP2K1 CTNNB1 BRAF
7	Beta-Adrenergic Signaling ⁶⁴ Show member pathways CDK5 Pathway ⁶⁴ Erythropoietin Pathway ⁶⁴ Insulin Pathway ⁷⁰ Insulin Receptor Pathway ⁶⁴	12.85	NRAS MAP2K1 GNA11 CTNNB1 BRAF
8	NFAT and Cardiac Hypertrophy ⁶⁴ Show member pathways IGF1R Signaling ⁶⁴ Signaling Involved in Cardiac Hypertrophy ⁶⁴	12.82	PTEN NRAS MAP2K1 GNA11 BRAF
9	Alzheimer's disease and miRNA effects ⁷⁴ Show member pathways Alzheimer's disease ⁷⁴	12.8	NRAS MAP2K1 GNAQ CTNNB1 BRAF
10	Signaling by Receptor Tyrosine Kinases ⁶⁶	12.79	NRAS MAP2K1 KIT CTNNB1 BRAF
11	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	12.71	NRAS MAP2K1 KIT GNAQ GNA11 BRAF
12	Malignant pleural mesothelioma ⁷⁴	12.63	PTEN MAP2K1 KIT CTNNB1 CDKN2A
13	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴	12.59	NRAS MAP2K1 GNA11 CDKN2A BRAF
14	Development EGFR signaling pathway ²² Show member pathways Development ERBB-family signaling ²² EGF Pathway ⁶⁴ EGFR Signaling Pathway ⁶⁷ ErbB receptor signaling network ⁶¹	12.45	NRAS MAP2K1 CTNNB1 BRAF
15	Hepatocyte growth factor receptor signaling ⁷⁴ Show member pathways Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1 ²² Apoptosis and survival NGF signaling pathway ²² Apoptosis and survival Role of CDK5 in neuronal death and survival ²² Development HGF signaling pathway ²² Development Neurotrophin family signaling ²² Drug-mediated inhibition of MET activation ⁶⁶ MET activates PTPN11 ⁶⁶ MET activates STAT3 ⁶⁶ PLC-gamma1 signalling ⁶⁶ Trk receptor signaling mediated by PI3K and PLC-gamma ⁶¹ TRKA activation by NGF ⁶⁶	12.41	PTEN MAP2K1 CTNNB1 BRAF
16	G-protein signaling RAC1 in cellular process ²² Show member pathways CDC42 signaling events ⁶¹ Cytoskeleton remodeling CDC42 in cellular processes ²² RAC1 signaling pathway ⁶¹	12.34	NRAS MAP2K1 KIT CTNNB1 BRAF
17	Breast cancer pathway ⁷⁴ Show member pathways Embryonic stem cell pluripotency pathways ⁷⁴	12.28	BRAF CTNNB1 KIT MAP2K1 NRAS PTEN
18	Development A3 receptor signaling ²² Show member pathways Development A1 receptor signaling ²² G-protein signaling G-Protein alpha-q signaling cascades ²²	12.27	MAP2K1 GNAQ GNA11 CTNNB1
19	Focal adhesion ⁷⁴	12.23	PTEN MAP2K1 CTNNB1 BRAF
20	MAPK Signaling: Mitogens ⁶⁵ Show member pathways Akt Signaling Pathway ⁶⁵	12.18	PTEN NRAS MAP2K1 BRAF
21	Development Endothelin-1/EDNRA transactivation of EGFR ²² Show member pathways Cytoskeleton remodeling FAK signaling ²² Development Endothelin-1/EDNRA signaling ²²	12.16	MAP2K1 GNAQ GNA11 CTNNB1
22	Endometrial cancer ⁷⁴ Show member pathways Chromosomal and microsatellite instability in colorectal cancer ⁷⁴ Melanoma ⁷⁴ Non-small cell lung cancer ⁷⁴ Pancreatic adenocarcinoma pathway ⁷⁴ Signal transduction PTEN pathway ²²	12.12	PTEN NRAS MAP2K1 KIT CTNNB1 CDKN2A
23	CCR3 Pathway in Eosinophils ⁶⁴ Show member pathways VEGF and S-1P Signaling ⁶⁴	12.06	NRAS MAP2K1 GNA11 BRAF
24	GDNF signaling ⁷⁴	12	BRAF MAP2K1 NRAS PTEN
25	Fragile X syndrome ⁷⁴ Show member pathways Pilocytic astrocytoma ⁷⁴	11.96	PTEN MAP2K1 CDKN2A BRAF
26	Signalling to ERKs ⁶⁶ Show member pathways ARMS-mediated activation ⁶⁶ Frs2-mediated activation ⁶⁶ p38MAPK events ⁶⁶ Prolonged ERK activation events ⁶⁶ Signalling to p38 via RIT and RIN ⁶⁶ Signalling to RAS ⁶⁶	11.9	NRAS MAP2K1 BRAF
27	MAP Kinase Signaling ³	11.9	NRAS MAP2K1 GNAQ BRAF
28	DNA damage response (only ATM dependent) ⁷⁴	11.88	PTEN NRAS CTNNB1
29	Senescence and autophagy in cancer ⁷⁴	11.86	PTEN MAP2K1 CDKN2A BRAF
30	Development A2B receptor- action via G-protein alpha s ²² Show member pathways Development A2A receptor signaling ²²	11.81	MAP2K1 GNAQ GNA11 CTNNB1 BRAF
31	C-MYB transcription factor network ⁶¹	11.75	NRAS KIT CDKN2A
32	VEGF Pathway (Tocris) ⁷⁰ Show member pathways Sorafenib Pharmacodynamics ⁶⁰	11.71	BRAF KIT MAP2K1 NRAS
33	AP-1 transcription factor network ⁶¹	11.67	PTEN CTNNB1 CDKN2A
34	G-protein signaling_RhoA regulation pathway ²²	11.67	NRAS MAP2K1 GNAQ GNA11 BRAF
35	Head and neck squamous cell carcinoma ⁷⁴	11.66	PTEN NRAS CTNNB1 CDKN2A
36	Signaling events mediated by VEGFR1 and VEGFR2 ⁶¹	11.61	MAP2K1 CTNNB1 BRAF
37	Gastrin signaling pathway ⁷⁴	11.6	MAP2K1 KIT GNAQ CTNNB1 CDKN2A
38	miRNAs involved in DNA damage response ⁷⁴	11.58	MIRLET7B MIR23B MIR222 MIR221
39	Thyroid stimulating hormone (TSH) signaling pathway ⁷⁴	11.57	MAP2K1 GNAQ BRAF
40	Serotonin HTR1 group and FOS pathway ⁷⁴ Show member pathways Serotonin receptor 2 and ELK-SRF/GATA4 signaling ⁷⁴ Serotonin receptor 4/6/7 and NR3C signaling ⁷⁴	11.52	NRAS MAP2K1 GNAQ BRAF
41	BDNF-TrkB signaling ⁷⁴ Show member pathways Synaptic signaling pathways associated with autism spectrum disorder ⁷⁴	11.48	PTEN NRAS MAP2K1 BRAF
42	Vemurafenib Pathway, Pharmacodynamics ⁶⁰	11.41	NRAS MAP2K1 BRAF
43	Crizotinib Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	11.35	NRAS MAP2K1 BRAF
44	Transcription_Transcription factor Tubby signaling pathways ²²	11.29	NRAS GNAQ GNA11
45	Bladder cancer ⁷⁴	11.16	NRAS MAP2K1 CDKN2A BRAF
46	Corticotropin-releasing hormone signaling pathway ⁷⁴	10.98	MAP2K1 GNAQ GNA11 CTNNB1 BRAF
47	MAPK pathway in congenital thyroid cancer ⁷⁴	10.72	MAP2K1 BRAF
48	Regorafenib Pathway, Pharmacodynamics ⁶⁰	10.55	KIT BRAF

Sources

GO Terms for Melanoma

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

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular vesicle	GO:1903561	9.02	MIRLET7B MIR34A MIR23B MIR222 MIR221

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

(show all 21)

#	Name	GO ID	Score	Top Affiliating Genes
1	MAPK cascade	GO:0000165	10.16	BRAF CTNNB1 MAP2K1 NRAS
2	heart development	GO:0007507	10.16	PTEN MAP2K1 GNA11 FBN1 CTNNB1
3	thymus development	GO:0048538	10.04	MAP2K1 CTNNB1 BRAF
4	negative regulation of angiogenesis	GO:0016525	9.92	MIR34A MIR222 MIR205 CTNNB1
5	positive regulation of ERK1 and ERK2 cascade	GO:0070374	9.91	PTEN MIRLET7B MIR222 MIR221 MAP2K1 BRAF
6	trachea formation	GO:0060440	9.9	MAP2K1 CTNNB1
7	positive regulation of gene expression	GO:0010628	9.9	BRAF CDKN2A CTNNB1 KIT MAP2K1 MIR182
8	positive regulation of epithelial to mesenchymal transition	GO:0010718	9.89	MIR222 MIR221 CTNNB1
9	entrainment of circadian clock	GO:0009649	9.88	GNAQ GNA11
10	myeloid progenitor cell differentiation	GO:0002318	9.88	KIT BRAF
11	negative regulation of vascular associated smooth muscle cell proliferation	GO:1904706	9.85	PTEN MIR34A MIR182
12	miRNA-mediated gene silencing by inhibition of translation	GO:0035278	9.67	MIR222 MIR221 MIR205 MIR182
13	positive regulation of axon regeneration	GO:0048680	9.62	MIR222 MIR221 BRAF
14	negative regulation of leukocyte adhesion to vascular endothelial cell	GO:1904995	9.54	MIR222 MIR221
15	miRNA-mediated gene silencing	GO:0035195	9.53	MIRLET7B MIR532 MIR34A MIR23B MIR222 MIR221
16	negative regulation of hematopoietic stem cell proliferation	GO:1902034	9.49	MIR222 MIR221
17	negative regulation of interleukin-21 production	GO:0032705	9.48	MIR222 MIR221
18	positive regulation of Schwann cell migration	GO:1900149	9.46	MIR221 MIR222
19	negative regulation of TRAIL-activated apoptotic signaling pathway	GO:1903122	9.43	MIR221 MIR222
20	positive regulation of Schwann cell proliferation involved in axon regeneration	GO:1905046	9.4	MIR222 MIR221
21	regulation of axon regeneration	GO:0048679	9.26	PTEN MAP2K1 BRAF