MCID: SKN019
MIFTS: 70

Skin Melanoma

Categories: Cancer diseases, Ear diseases, Skin diseases

Aliases & Classifications for Skin Melanoma

MalaCards integrated aliases for Skin Melanoma:

Name: Skin Melanoma 12 54 15
Cutaneous Melanoma 12 6 15 17 70
Malignant Melanoma of Ear and/or External Auricular Canal 12
Malignant Melanoma of Skin of Trunk Except Scrotum 12
Malignant Melanoma of Skin of Lower Limb 12
Malignant Melanoma of Skin of Upper Limb 12
Melanoma, Cutaneous Malignant 44
Malignant Lower Limb Melanoma 12
Malignant Upper Limb Melanoma 12
Malignant Scalp Melanoma 12
Malignant Trunk Melanoma 12
Malignant Neck Melanoma 12
Malignant Ear Melanoma 12
Malignant Lip Melanoma 12
Melanoma 70

Classifications:



External Ids:

Disease Ontology 12 DOID:8923
ICD9CM 34 172.9
MeSH 44 C562393
NCIt 50 C3510
SNOMED-CT 67 269577007
ICD10 32 C43 C43.9
UMLS 70 C0025202 C0151779

Summaries for Skin Melanoma

Disease Ontology : 12 A skin cancer that has material basis in melanocytes.

MalaCards based summary : Skin Melanoma, also known as cutaneous melanoma, is related to melanoma, cutaneous malignant 1 and acral lentiginous melanoma, and has symptoms including pruritus and exanthema. An important gene associated with Skin Melanoma is NRAS (NRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are Signaling by GPCR and ERK Signaling. The drugs Vindesine and Etanercept have been mentioned in the context of this disorder. Affiliated tissues include skin, lymph node and t cells, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Skin Melanoma

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

(show top 50) (show all 592)
# Related Disease Score Top Affiliating Genes
1 melanoma, cutaneous malignant 1 33.8 TP53 PTEN NRAS MITF MC1R MAP2K1
2 acral lentiginous melanoma 32.9 PTEN NRAS MC1R KIT HRAS CDKN2A
3 melanoma in congenital melanocytic nevus 32.7 NRAS MITF MC1R KIT HRAS GNAQ
4 spitzoid melanoma 32.6 NRAS HRAS GNAQ GNA11 CDKN2A BRAF
5 melanoma 32.5 TP53 SNAPC5 PTEN NRAS MITF MC1R
6 skin carcinoma 31.9 TP53 SNAPC5 PTEN NRAS MITF MC1R
7 mucosal melanoma 31.8 TP53 NRAS MITF KIT GNAQ GNA11
8 lentigo maligna melanoma 31.7 MITF MC1R
9 nodular malignant melanoma 31.4 TP53 NRAS MITF MC1R KIT HRAS
10 neuroblastoma 31.4 TP53 PTEN NRAS MAP2K1 KIT HRAS
11 squamous cell carcinoma 31.3 TP53 PTEN MAP2K1 HRAS ERBB2 CTNNB1
12 leukemia, chronic lymphocytic 31.3 TP53 PTEN NRAS HRAS ERBB2 CDK4
13 actinic keratosis 31.3 TP53 MITF MC1R HRAS CTNNB1 CDKN2A
14 ocular melanoma 31.2 NRAS MC1R KIT GNAQ GNA11 CDKN2A
15 spitz nevus 31.2 TP53 HRAS CDKN2A BRAF
16 basal cell carcinoma 31.2 TP53 PTEN MC1R KIT CTNNB1 CDKN2A
17 myeloma, multiple 31.2 TP53 PTEN NRAS KIT HRAS ERBB2
18 pancreatic cancer 31.2 TP53 PTEN MAP2K1 HRAS ERBB2 CTNNB1
19 keratosis, seborrheic 31.1 TP53 MC1R CDKN2A
20 endometrial cancer 31.1 TP53 PTEN NRAS HRAS ERBB2 CTNNB1
21 skin disease 31.1 TP53 NRAS MITF MC1R KIT HRAS
22 gastrointestinal stromal tumor 31.1 TP53 PTEN KIT ERBB2 CDKN2A BRAF
23 in situ carcinoma 31.1 TP53 PTEN HRAS ERBB2 CTNNB1 CDKN2A
24 hemangioma 31.0 TP53 PTEN MAP2K1 KIT GNAQ GNA11
25 melanoma, uveal 31.0 TP53 PTEN NRAS MITF MC1R MAP2K1
26 malignant conjunctival melanoma 31.0 NRAS HRAS GNAQ GNA11
27 merkel cell carcinoma 31.0 TP53 KIT CTNNB1 CDKN2A
28 adenocarcinoma 30.9 TP53 PTEN MAP2K1 KIT HRAS ERBB2
29 rhabdomyosarcoma 30.9 TP53 PTEN NRAS MAP2K1 KIT HRAS
30 diffuse large b-cell lymphoma 30.9 TP53 PTEN CDKN2A CDK4
31 connective tissue cancer 30.9 TP53 PTEN CDKN2A CDK4
32 gastric cancer 30.9 TP53 PTEN NRAS MAP2K1 KIT HRAS
33 neurofibromatosis, type i 30.9 TP53 PTEN NRAS MAP2K1 KIT HRAS
34 neurofibroma 30.9 TP53 PTEN MITF KIT ERBB2 CDKN2A
35 li-fraumeni syndrome 30.8 TP53 PTEN HRAS ERBB2 CTNNB1 CDKN2A
36 exanthem 30.8 KIT HRAS ERBB2
37 hereditary breast ovarian cancer syndrome 30.8 TP53 PTEN MITF HRAS ERBB2 CDKN2A
38 prostate cancer 30.8 TP53 PTEN PCAT29 MAP2K1 HRAS ERBB2
39 sarcoma 30.8 TP53 NRAS KIT HRAS CTNNB1 CDK4
40 small cell carcinoma 30.8 TP53 PTEN KIT ERBB2 CDKN2A
41 brain cancer 30.8 TP53 PTEN NRAS HRAS CTNNB1 BRAF
42 endometrial adenocarcinoma 30.8 TP53 PTEN ERBB2 CTNNB1 CDKN2A
43 retinitis pigmentosa 30.8 TP53 PTEN MITF KIT HRAS ERBB2
44 liposarcoma 30.8 TP53 PTEN CTNNB1 CDKN2A CDK4
45 skin squamous cell carcinoma 30.8 TP53 HRAS ERBB2 CDKN2A BRAF
46 adenoma 30.8 TP53 CTNNB1 CDKN2A BRAF
47 malignant skin fibrous histiocytoma 30.8 NRAS KIT HRAS GNAQ GNA11
48 vulvar melanoma 30.8 NRAS KIT HRAS GNAQ GNA11
49 cowden syndrome 30.8 TP53 PTEN HRAS ERBB2 CTNNB1
50 cervical cancer 30.8 TP53 PTEN HRAS ERBB2 CTNNB1 CDKN2A

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



Diseases related to Skin Melanoma

Symptoms & Phenotypes for Skin Melanoma

UMLS symptoms related to Skin Melanoma:


pruritus; exanthema

GenomeRNAi Phenotypes related to Skin Melanoma according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.8 HRAS
2 Decreased viability GR00055-A-2 9.8 HRAS
3 Decreased viability GR00107-A-1 9.8 MAP2K1
4 Decreased viability GR00221-A-1 9.8 CDKN2A HRAS NRAS
5 Decreased viability GR00221-A-2 9.8 HRAS
6 Decreased viability GR00221-A-3 9.8 CDKN2A ERBB2 HRAS MAP2K1 NRAS
7 Decreased viability GR00221-A-4 9.8 CDKN2A ERBB2
8 Decreased substrate adherent cell growth GR00193-A-1 9.76 KIT
9 Decreased substrate adherent cell growth GR00193-A-2 9.76 CDK4 KIT
10 Decreased substrate adherent cell growth GR00193-A-3 9.76 BRAF CDK4
11 Decreased substrate adherent cell growth GR00193-A-4 9.76 BRAF CDK4 KIT
12 Increased focal adhesion (FA) area, decreased number of small and round FAs, increased peripheral FA formation, increased cell spreading GR00210-A 8.32 CTNNB1

MGI Mouse Phenotypes related to Skin Melanoma:

46 (show all 27)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.51 BRAF CDK4 CDKN2A CTNNB1 ERBB2 FBN1
2 growth/size/body region MP:0005378 10.49 BRAF CDK4 CDKN2A CTNNB1 ERBB2 FBN1
3 cardiovascular system MP:0005385 10.47 BRAF CDK4 CDKN2A CTNNB1 ERBB2 FBN1
4 endocrine/exocrine gland MP:0005379 10.47 BRAF CDK4 CDKN2A CTNNB1 ERBB2 FBN1
5 homeostasis/metabolism MP:0005376 10.47 BRAF CDK4 CDKN2A CTNNB1 ERBB2 FBN1
6 craniofacial MP:0005382 10.46 BRAF CDK4 CTNNB1 ERBB2 FBN1 GNA11
7 integument MP:0010771 10.45 BRAF CDK4 CDKN2A CTNNB1 ERBB2 FBN1
8 cellular MP:0005384 10.44 BRAF CDK4 CDKN2A CTNNB1 ERBB2 FBN1
9 hematopoietic system MP:0005397 10.39 BRAF CDK4 CDKN2A CTNNB1 FBN1 GNA11
10 mortality/aging MP:0010768 10.39 BRAF CDK4 CDKN2A CTNNB1 ERBB2 FBN1
11 embryo MP:0005380 10.38 BRAF CDK4 CDKN2A CTNNB1 ERBB2 FBN1
12 immune system MP:0005387 10.37 BRAF CDK4 CDKN2A CTNNB1 FBN1 GNA11
13 digestive/alimentary MP:0005381 10.35 BRAF CDK4 CDKN2A CTNNB1 ERBB2 HRAS
14 limbs/digits/tail MP:0005371 10.31 BRAF CTNNB1 ERBB2 FBN1 GNA11 GNAQ
15 nervous system MP:0003631 10.3 BRAF CDK4 CDKN2A CTNNB1 ERBB2 FBN1
16 muscle MP:0005369 10.27 BRAF CDK4 CDKN2A CTNNB1 ERBB2 FBN1
17 neoplasm MP:0002006 10.26 BRAF CDK4 CDKN2A CTNNB1 ERBB2 HRAS
18 hearing/vestibular/ear MP:0005377 10.24 BRAF CTNNB1 GNA11 GNAQ KIT MAP2K1
19 liver/biliary system MP:0005370 10.22 BRAF CDK4 CDKN2A CTNNB1 GNA11 KIT
20 normal MP:0002873 10.22 BRAF CDK4 CTNNB1 ERBB2 GNA11 GNAQ
21 pigmentation MP:0001186 10.18 BRAF CDK4 CDKN2A CTNNB1 FBN1 GNA11
22 no phenotypic analysis MP:0003012 10.09 CDKN2A CTNNB1 FBN1 HRAS KIT MC1R
23 renal/urinary system MP:0005367 10.06 BRAF CDK4 CTNNB1 FBN1 GNA11 GNAQ
24 reproductive system MP:0005389 10 BRAF CDK4 CDKN2A CTNNB1 ERBB2 FBN1
25 respiratory system MP:0005388 9.9 BRAF CDKN2A CTNNB1 ERBB2 FBN1 GNA11
26 skeleton MP:0005390 9.83 BRAF CDK4 CDKN2A CTNNB1 ERBB2 FBN1
27 vision/eye MP:0005391 9.32 BRAF CDK4 CDKN2A CTNNB1 KIT MAP2K1

Drugs & Therapeutics for Skin Melanoma

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

(show top 50) (show all 539)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vindesine Approved, Investigational Phase 4 53643-48-4, 59917-39-4 40839
2
Etanercept Approved, Investigational Phase 4 185243-69-0
3
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
4
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
5
Pasireotide Approved Phase 4 396091-73-9 9941444
6
Lactitol Approved, Investigational Phase 4 585-86-4 157355
7
Somatostatin Approved, Investigational Phase 4 51110-01-1, 38916-34-6 53481605
8
Cabergoline Approved Phase 4 81409-90-7 54746
9 Hemostatics Phase 4
10 Fibrin Tissue Adhesive Phase 4
11 Coagulants Phase 4
12 Hormones Phase 4
13 Hormone Antagonists Phase 4
14 Neurotransmitter Agents Phase 4
15 Dopamine Agents Phase 4
16 Dopamine agonists Phase 4
17 Antiparkinson Agents Phase 4
18
Treosulfan Approved, Investigational Phase 3 299-75-2 9296
19
Timolol Approved Phase 3 26839-75-8 33624 5478
20
Sorafenib Approved, Investigational Phase 3 284461-73-0 216239 406563
21
Ranibizumab Approved Phase 3 347396-82-1 459903
22
tannic acid Approved Phase 2, Phase 3 1401-55-4
23
Benzocaine Approved, Investigational Phase 2, Phase 3 1994-09-7, 94-09-7 2337
24
Lenalidomide Approved Phase 2, Phase 3 191732-72-6 216326
25
Vinblastine Approved Phase 3 865-21-4 13342 241903
26
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
27
Peginterferon alfa-2a Approved, Investigational Phase 2, Phase 3 198153-51-4 5360545
28
Atezolizumab Approved, Investigational Phase 3 1380723-44-3
29
Imiquimod Approved, Investigational Phase 3 99011-02-6 57469
30
leucovorin Approved Phase 3 58-05-9 6006
31
Propranolol Approved, Investigational Phase 2, Phase 3 525-66-6 4946
32
BCG vaccine Approved, Investigational Phase 3
33
Xylometazoline Approved, Investigational Phase 3 526-36-3 5709
34
Peginterferon alfa-2b Approved Phase 2, Phase 3 215647-85-1, 99210-65-8
35
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
36
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
37
Vitamin D3 Approved, Nutraceutical Phase 3 67-97-0 6221 5280795
38
Imidacloprid Vet_approved Phase 3 105827-78-9 86418
39
Fotemustine Investigational Phase 3 92118-27-9
40
Oblimersen Experimental, Investigational Phase 2, Phase 3 190977-41-4
41 Detox adjuvant Phase 3
42 Methyl 5-aminolevulinate Phase 3
43 Pharmaceutical Solutions Phase 3
44 Olive Phase 3
45 Anti-Arrhythmia Agents Phase 2, Phase 3
46 Antihypertensive Agents Phase 2, Phase 3
47 Mitogens Phase 3
48 Endothelial Growth Factors Phase 3
49 Vasodilator Agents Phase 2, Phase 3
50 Adrenergic beta-Antagonists Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 2423)
# 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 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
3 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
4 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)
5 Evolution of the Heart Function When Monitoring Immunotherapies Anti-cancerous Inhibiting Programmed Cell Death 1 (PD-1) Unknown status NCT03313544 Phase 4 Nivolumab
6 Can We Miss Pigmented Lesions in Psoriasis Patients? Completed NCT01053819 Phase 4 etanercept
7 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
8 Neoadjuvant GM-CSF Treatment and Modulation of Immune Cell Profile of the SLN in Melanoma Completed NCT02451488 Phase 4 GM-CSF
9 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
10 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
11 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.
12 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) Recruiting NCT03715205 Phase 4 Pembrolizumab
13 Elderly Cancer PatIents Treated for Advanced or Metastatic Melanoma or NSCLC, Safety and qualiTy of Life Under immunOtheraPies: a Phase IV Trial Recruiting NCT03673332 Phase 4 immune-checkpoint inhibitors therapies
14 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
15 Phase IV Ipilimumab in Melanoma: A National, Multicenter, Interventional Study in Patients With Unresectable or Metastatic Melanoma Active, not recruiting NCT02068196 Phase 4 Ipilimumab
16 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;Pasireotide
17 Influenza Vaccine Responses in the Setting of Melanoma Treatment Enrolling by invitation NCT03315975 Phase 4
18 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. Not yet recruiting NCT04261179 Phase 4 Lymphoseek;Nanocoll
19 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
20 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
21 Phase II GENIUS Trial of GENetically-Informed Therapies for Patients With previoUSly Treated Refractory Metastatic Cancer Withdrawn NCT02000739 Phase 4
22 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
23 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
24 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
25 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
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 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
28 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
29 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
30 A Pivotal Phase III, Open-label, Randomized, Controlled Multi-center Study of the Efficacy of L19IL2/L19TNF Neoadjuvant Intratumoral Treatment Followed by Surgery Versus Surgery Alone in Clinical Stage III B/C Melanoma Patients Unknown status NCT02938299 Phase 3 L19IL2 + L19TNF
31 Randomized Phase III Study Comparing an Adjuvant Chemotherapy With Fotemustin to Intensive Surveillance in Patients With High Risk Uveal Melanoma Unknown status NCT02843386 Phase 3 Adjuvant chemotherapy by Fotemustin
32 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
33 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
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 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
36 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
37 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
38 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
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 Treatment of Port Wine Stains in Children With Pulsed Dye Laser and Timolol Gel Unknown status NCT01272609 Phase 3 Timolol + LCP
42 Immunotherapy of Colon Cancer With Autologous Perchloric Soluble Tumors Extracts Unknown status NCT00002455 Phase 3
43 A Phase III, Double-Blind, Placebo-Controlled Study of Vemurafenib Versus Vemurafenib Plus GDC-0973 in Previously Untreated BRAF^600-Mutation Positive Patients With Unresectable Locally Advanced or Metastatic Melanoma Completed NCT01689519 Phase 3 Placebo;Vemurafenib;Cobimetinib
44 A Phase III Randomized, Open-label Study Comparing GSK2118436 to Dacarbazine (DTIC) in Previously Untreated Subjects With BRAF Mutation Positive Advanced (Stage III) or Metastatic (Stage IV) Melanoma Completed NCT01227889 Phase 3 GSK2118436;Dacarbazine (DTIC)
45 A Phase 3, Prospective, Open-Label, Multicenter Comparison Study of Lymphoseek® and Vital Blue Dye as Lymphoid Tissue Targeting Agents in Patients With Known Melanoma or Breast Cancer Who Are Undergoing Lymph Node Mapping Completed NCT00671918 Phase 3 Lymphoseek
46 TIL (Tumor Infiltrating Lymphocytes) and IL2 (Interleukin 2) Versus Abstention as Adjuvant Treatment in Melanoma With Only One Invaded Lymphnode After Lymphnodes Excision Completed NCT00200577 Phase 3 TIL + IL2
47 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
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 The NEMO Trial (NRAS Melanoma and MEK Inhibitor):A Randomized Phase III, Open Label, Multicenter, Two-arm Study Comparing the Efficacy of MEK162 Versus Dacarbazine in Patients With Advanced Unresectable or Metastatic NRAS Mutation-positive Melanoma Completed NCT01763164 Phase 3 MEK162;Dacarbazine
50 A Phase III, Randomized, Double-blinded Study Comparing the Combination of the BRAF Inhibitor, Dabrafenib and the MEK Inhibitor, Trametinib to Dabrafenib and Placebo as First-line Therapy in Subjects With Unresectable (Stage IIIC) or Metastatic (Stage IV) BRAF V600E/K Mutation-positive Cutaneous Melanoma Completed NCT01584648 Phase 3 Dabrafenib;Trametinib;Trametinib placebo

Search NIH Clinical Center for Skin Melanoma

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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

Cochrane evidence based reviews: melanoma, cutaneous malignant

Genetic Tests for Skin Melanoma

Anatomical Context for Skin Melanoma

MalaCards organs/tissues related to Skin Melanoma:

40
Skin, Lymph Node, T Cells, Liver, Breast, Lung, Brain

Publications for Skin Melanoma

Articles related to Skin Melanoma:

(show top 50) (show all 8251)
# Title Authors PMID Year
1
Updated field synopsis and systematic meta-analyses of genetic association studies in cutaneous melanoma: the MelGene database. 6 61
25407435 2015
2
Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. 6 61
25803691 2015
3
Prognostic value of BRAF mutations in localized cutaneous melanoma. 61 6
24388723 2014
4
Malignant Melanoma with Concurrent BRAF E586K and NRAS Q81K Mutations. 6 61
24926260 2014
5
Loss of NF1 in cutaneous melanoma is associated with RAS activation and MEK dependence. 6 61
24576830 2014
6
Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population. 6 61
23647022 2013
7
Phase II study of the MEK1/MEK2 inhibitor Trametinib in patients with metastatic BRAF-mutant cutaneous melanoma previously treated with or without a BRAF inhibitor. 6 61
23248257 2013
8
Sunitinib therapy for melanoma patients with KIT mutations. 6 61
22261812 2012
9
Melanocortin 1 receptor and risk of cutaneous melanoma: a meta-analysis and estimates of population burden. 6 61
21128237 2011
10
NRAS and BRAF mutation frequency in primary oral mucosal melanoma. 6 61
21750866 2011
11
Mutations in KIT occur at low frequency in melanomas arising from anatomical sites associated with chronic and intermittent sun exposure. 61 6
20088873 2010
12
Loss of membranous expression of beta-catenin is associated with tumor progression in cutaneous melanoma and rarely caused by exon 3 mutations. 61 6
11950921 2002
13
N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 6 61
2674680 1989
14
Codon-specific translation reprogramming promotes resistance to targeted therapy. 6
29925953 2018
15
A somatic mutation in erythro-myeloid progenitors causes neurodegenerative disease. 6
28854169 2017
16
The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma. 6
27680874 2016
17
Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations. 6
26650189 2016
18
Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup. 6
26775776 2016
19
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 6
26619011 2016
20
Primary cross-resistance to BRAFV600E-, MEK1/2- and PI3K/mTOR-specific inhibitors in BRAF-mutant melanoma cells counteracted by dual pathway blockade. 6
26678033 2016
21
MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project. 6
26103569 2015
22
BRAF and NRAS mutations are heterogeneous and not mutually exclusive in nodular melanoma. 6
24710085 2015
23
Database of genomic biomarkers for cancer drugs and clinical targetability in solid tumors. 6
25656898 2015
24
First-in-human phase I study of pictilisib (GDC-0941), a potent pan-class I phosphatidylinositol-3-kinase (PI3K) inhibitor, in patients with advanced solid tumors. 6
25370471 2015
25
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 6
25157968 2014
26
eIF4F is a nexus of resistance to anti-BRAF and anti-MEK cancer therapies. 6
25079330 2014
27
A meta-analysis of somatic mutations from next generation sequencing of 241 melanomas: a road map for the study of genes with potential clinical relevance. 6
24755198 2014
28
Transcriptome sequencing of melanocytic nevi and melanomas from Grm1 transgenic mice to determine melanoma driver mutations. 6
24661573 2014
29
Correlation of BRAF and NRAS mutation status with outcome, site of distant metastasis and response to chemotherapy in metastatic melanoma. 6
24918823 2014
30
The GIST of targeted therapy for malignant melanoma. 6
24531699 2014
31
MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors. 6
24406078 2014
32
Copper is required for oncogenic BRAF signalling and tumorigenesis. 6
24717435 2014
33
Novel ATP-competitive MEK inhibitor E6201 is effective against vemurafenib-resistant melanoma harboring the MEK1-C121S mutation in a preclinical model. 6
24448821 2014
34
Prevalence of the E318K and V320I MITF germline mutations in Polish cancer patients and multiorgan cancer risk-a population-based study. 6
24767713 2014
35
Reversible and adaptive resistance to BRAF(V600E) inhibition in melanoma. 6
24670642 2014
36
Dabrafenib and trametinib, alone and in combination for BRAF-mutant metastatic melanoma. 6
24583796 2014
37
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. 6
24508103 2014
38
Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas. 6
24512911 2014
39
The genetic landscape of clinical resistance to RAF inhibition in metastatic melanoma. 6
24265153 2014
40
MAP kinase pathway alterations in BRAF-mutant melanoma patients with acquired resistance to combined RAF/MEK inhibition. 6
24265154 2014
41
A novel AKT1 mutant amplifies an adaptive melanoma response to BRAF inhibition. 6
24265152 2014
42
Acquired resistance and clonal evolution in melanoma during BRAF inhibitor therapy. 6
24265155 2014
43
Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients. 6
23774529 2014
44
The impact of MITF on melanoma development: news from bench and bedside. 6
24352080 2014
45
BRAF-V600 mutations have no prognostic impact in stage IV melanoma patients treated with monochemotherapy. 6
24586605 2014
46
Large-scale analysis of PDGFRA mutations in melanomas and evaluation of their sensitivity to tyrosine kinase inhibitors imatinib and crenolanib. 6
24132921 2013
47
MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. 6
23787126 2013
48
Imatinib for melanomas harboring mutationally activated or amplified KIT arising on mucosal, acral, and chronically sun-damaged skin. 6
23775962 2013
49
Phase II trial (BREAK-2) of the BRAF inhibitor dabrafenib (GSK2118436) in patients with metastatic melanoma. 6
23918947 2013
50
C-RAF mutations confer resistance to RAF inhibitors. 6
23737487 2013

Variations for Skin Melanoma

ClinVar genetic disease variations for Skin Melanoma:

6 (show top 50) (show all 455)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC45A2 NM_016180.5(SLC45A2):c.1122= (p.Leu374=) SNV protective 4505 rs16891982 GRCh37: 5:33951693-33951693
GRCh38: 5:33951588-33951588
2 MAP2K1 NM_002755.3(MAP2K1):c.607G>A (p.Glu203Lys) SNV Pathogenic 375982 rs1057519733 GRCh37: 15:66774131-66774131
GRCh38: 15:66481793-66481793
3 NRAS NM_002524.5(NRAS):c.38G>C (p.Gly13Ala) SNV Pathogenic 375877 rs121434596 GRCh37: 1:115258744-115258744
GRCh38: 1:114716123-114716123
4 NRAS NM_002524.5(NRAS):c.181C>G (p.Gln61Glu) SNV Pathogenic 375875 rs121913254 GRCh37: 1:115256530-115256530
GRCh38: 1:114713909-114713909
5 MAP2K1 NM_002755.3(MAP2K1):c.790C>T (p.Pro264Ser) SNV Pathogenic 375983 rs1057519734 GRCh37: 15:66777424-66777424
GRCh38: 15:66485086-66485086
6 MAP2K1 NM_002755.3(MAP2K1):c.332T>G (p.Ile111Ser) SNV Pathogenic 375979 rs1057519730 GRCh37: 15:66729124-66729124
GRCh38: 15:66436786-66436786
7 NRAS NM_002524.5(NRAS):c.182_183delinsGG (p.Gln61Arg) Indel Pathogenic 375873 rs1057519695 GRCh37: 1:115256528-115256529
GRCh38: 1:114713907-114713908
8 MAP2K1 NM_002755.3(MAP2K1):c.157T>C (p.Phe53Leu) SNV Pathogenic 375977 rs1057519728 GRCh37: 15:66727441-66727441
GRCh38: 15:66435103-66435103
9 BRAF NM_004333.6(BRAF):c.1782T>A (p.Asp594Glu) SNV Pathogenic 375945 rs121913337 GRCh37: 7:140453153-140453153
GRCh38: 7:140753353-140753353
10 MAP2K1 , SNAPC5 NM_002755.4(MAP2K1):c.1144A>C (p.Asn382His) SNV Pathogenic 375984 rs1057519735 GRCh37: 15:66782915-66782915
GRCh38: 15:66490577-66490577
11 NRAS NM_002524.5(NRAS):c.182_183delinsTG (p.Gln61Leu) Indel Pathogenic 375872 rs1057519695 GRCh37: 1:115256528-115256529
GRCh38: 1:114713907-114713908
12 NRAS NM_002524.5(NRAS):c.37G>T (p.Gly13Cys) SNV Pathogenic 40471 rs121434595 GRCh37: 1:115258745-115258745
GRCh38: 1:114716124-114716124
13 BRAF NM_004333.6(BRAF):c.1799_1800delinsAT (p.Val600Asp) Indel Pathogenic 375939 rs121913377 GRCh37: 7:140453135-140453136
GRCh38: 7:140753335-140753336
14 BRAF NM_004333.6(BRAF):c.1798_1799delinsAG (p.Val600Arg) Indel Pathogenic 375940 rs121913227 GRCh37: 7:140453136-140453137
GRCh38: 7:140753336-140753337
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 GNA11 NM_002067.5(GNA11):c.626A>C (p.Gln209Pro) SNV Pathogenic 376001 rs1057519742 GRCh37: 19:3118942-3118942
GRCh38: 19:3118944-3118944
18 GNAQ NM_002072.5(GNAQ):c.626A>T (p.Gln209Leu) SNV Pathogenic 375955 rs121913492 GRCh37: 9:80409488-80409488
GRCh38: 9:77794572-77794572
19 BRAF NM_004333.6(BRAF):c.1789_1790delinsTC (p.Leu597Ser) Indel Pathogenic 375942 rs121913368 GRCh37: 7:140453145-140453146
GRCh38: 7:140753345-140753346
20 KIT NM_000222.2(KIT):c.1650A>T (p.Lys550Asn) SNV Pathogenic 375906 rs1057519703 GRCh37: 4:55593584-55593584
GRCh38: 4:54727418-54727418
21 KIT NM_000222.2(KIT):c.2458G>C (p.Asp820His) SNV Pathogenic 375927 rs1057519710 GRCh37: 4:55599332-55599332
GRCh38: 4:54733166-54733166
22 KIT NM_000222.2(KIT):c.1510T>C (p.Phe504Leu) SNV Pathogenic 375904 rs1057519702 GRCh37: 4:55592186-55592186
GRCh38: 4:54726020-54726020
23 KIT NM_000222.2(KIT):c.1679T>C (p.Val560Ala) SNV Pathogenic 375915 rs121913521 GRCh37: 4:55593613-55593613
GRCh38: 4:54727447-54727447
24 KIT NM_000222.2(KIT):c.1696A>G (p.Asn566Asp) SNV Pathogenic 375917 rs1057519705 GRCh37: 4:55593630-55593630
GRCh38: 4:54727464-54727464
25 KIT NM_000222.2(KIT):c.1657T>A (p.Tyr553Asn) SNV Pathogenic 375907 rs1057519704 GRCh37: 4:55593591-55593591
GRCh38: 4:54727425-54727425
26 KIT NM_000222.2(KIT):c.2458G>T (p.Asp820Tyr) SNV Pathogenic 375928 rs1057519710 GRCh37: 4:55599332-55599332
GRCh38: 4:54733166-54733166
27 KIT NM_000222.2(KIT):c.1650A>C (p.Lys550Asn) SNV Pathogenic 375905 rs1057519703 GRCh37: 4:55593584-55593584
GRCh38: 4:54727418-54727418
28 KIT NM_000222.2(KIT):c.1706T>G (p.Val569Gly) SNV Pathogenic 375918 rs1057519706 GRCh37: 4:55593640-55593640
GRCh38: 4:54727474-54727474
29 KIT NM_000222.2(KIT):c.1674G>C (p.Lys558Asn) SNV Pathogenic 375910 rs200375589 GRCh37: 4:55593608-55593608
GRCh38: 4:54727442-54727442
30 GNAQ NM_002072.5(GNAQ):c.626A>G (p.Gln209Arg) SNV Pathogenic 375956 rs121913492 GRCh37: 9:80409488-80409488
GRCh38: 9:77794572-77794572
31 PTEN NM_000314.8(PTEN):c.633C>A SNV Pathogenic 7836 rs121909232 GRCh37: 10:89712015-89712015
GRCh38: 10:87952258-87952258
32 PTEN NM_001304718.2(PTEN):c.-651G>A SNV Pathogenic 7837 rs121909233 GRCh37: 10:89624281-89624281
GRCh38: 10:87864524-87864524
33 PTEN NM_000314.7(PTEN):c.649G>A (p.Val217Ile) SNV Pathogenic 7838 rs121909234 GRCh37: 10:89717624-89717624
GRCh38: 10:87957867-87957867
34 CDKN2A NM_000077.4(CDKN2A):c.301G>T (p.Gly101Trp) SNV Pathogenic 9412 rs104894094 GRCh37: 9:21971057-21971057
GRCh38: 9:21971058-21971058
35 NRAS NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) SNV Pathogenic 39648 rs121913237 GRCh37: 1:115258747-115258747
GRCh38: 1:114716126-114716126
36 KIT NM_000222.2(KIT):c.1965T>A (p.Asn655Lys) SNV Pathogenic 375923 rs1057519708 GRCh37: 4:55594262-55594262
GRCh38: 4:54728096-54728096
37 NRAS NM_002524.5(NRAS):c.35G>T (p.Gly12Val) SNV Pathogenic 40470 rs121913237 GRCh37: 1:115258747-115258747
GRCh38: 1:114716126-114716126
38 KIT NM_000222.2(KIT):c.1676T>A (p.Val559Asp) SNV Pathogenic 13856 rs121913517 GRCh37: 4:55593610-55593610
GRCh38: 4:54727444-54727444
39 CTNNB1 NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr) SNV Pathogenic 375894 rs121913403 GRCh37: 3:41266113-41266113
GRCh38: 3:41224622-41224622
40 KIT NM_000222.2(KIT):c.1676T>G (p.Val559Gly) SNV Pathogenic 375912 rs121913517 GRCh37: 4:55593610-55593610
GRCh38: 4:54727444-54727444
41 KIT NM_000222.2(KIT):c.1669T>A (p.Trp557Arg) SNV Pathogenic 375908 rs121913235 GRCh37: 4:55593603-55593603
GRCh38: 4:54727437-54727437
42 KIT NM_000222.2(KIT):c.1679T>A (p.Val560Asp) SNV Pathogenic 375914 rs121913521 GRCh37: 4:55593613-55593613
GRCh38: 4:54727447-54727447
43 KIT NM_000222.2(KIT):c.2485G>C (p.Ala829Pro) SNV Pathogenic 375933 rs1057519713 GRCh37: 4:55602664-55602664
GRCh38: 4:54736498-54736498
44 KIT NM_000222.2(KIT):c.1679T>G (p.Val560Gly) SNV Pathogenic 375916 rs121913521 GRCh37: 4:55593613-55593613
GRCh38: 4:54727447-54727447
45 NRAS NM_002524.5(NRAS):c.38G>T (p.Gly13Val) SNV Pathogenic 375876 rs121434596 GRCh37: 1:115258744-115258744
GRCh38: 1:114716123-114716123
46 NRAS NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) SNV Pathogenic 13899 rs121434595 GRCh37: 1:115258745-115258745
GRCh38: 1:114716124-114716124
47 BRAF NM_004333.6(BRAF):c.1798_1799delinsAA (p.Val600Lys) Indel Pathogenic 375941 rs121913227 GRCh37: 7:140453136-140453137
GRCh38: 7:140753336-140753337
48 KIT NM_000222.2(KIT):c.1727T>C (p.Leu576Pro) SNV Pathogenic 375919 rs121913513 GRCh37: 4:55593661-55593661
GRCh38: 4:54727495-54727495
49 BRAF NM_001374258.1(BRAF):c.1909C>G (p.Leu637Val) SNV Pathogenic 13969 rs121913369 GRCh37: 7:140453146-140453146
GRCh38: 7:140753346-140753346
50 KIT NM_000222.2(KIT):c.1961T>C (p.Val654Ala) SNV Pathogenic 375921 rs121913523 GRCh37: 4:55594258-55594258
GRCh38: 4:54728092-54728092

Cosmic variations for Skin Melanoma:

9 (show top 50) (show all 4660)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM95964482 ZNF451 skin,neck,malignant melanoma,NS c.2114T>G p.I705S 6:57148199-57148199 15
2 COSM96588509 ZNF451 skin,neck,malignant melanoma,NS c.2114T>G p.I705S 6:57148199-57148199 15
3 COSM119021797 ZNF451 skin,neck,malignant melanoma,NS c.2114T>G p.I705S 6:57148199-57148199 15
4 COSM84509782 ZNF276 skin,scalp,malignant melanoma,NS c.*1273G>A p.? 16:89739519-89739519 15
5 COSM143038077 YAP1 skin,neck,malignant melanoma,NS c.1303C>T p.Q435* 11:102229716-102229716 15
6 COSM128448849 YAP1 skin,neck,malignant melanoma,NS c.1129C>T p.Q377* 11:102229716-102229716 15
7 COSM145025271 YAP1 skin,neck,malignant melanoma,NS c.1141C>T p.Q381* 11:102229716-102229716 15
8 COSM127995004 YAP1 skin,neck,malignant melanoma,NS c.1243C>T p.Q415* 11:102229716-102229716 15
9 COSM133269851 YAP1 skin,neck,malignant melanoma,NS c.1255C>T p.Q419* 11:102229716-102229716 15
10 COSM126969981 YAP1 skin,neck,malignant melanoma,NS c.757C>T p.Q253* 11:102229716-102229716 15
11 COSM90944416 YAP1 skin,neck,malignant melanoma,NS c.1189C>T p.Q397* 11:102229716-102229716 15
12 COSM85233895 YAP1 skin,neck,malignant melanoma,NS c.1291C>T p.Q431* 11:102229716-102229716 15
13 COSM105837553 XRCC6 skin,scalp,malignant melanoma,NS c.88C>T p.R30* 22:41636155-41636155 15
14 COSM97229917 XRCC6 skin,scalp,malignant melanoma,NS c.1054C>T p.P352S 22:41650816-41650816 15
15 COSM105840182 XRCC6 skin,scalp,malignant melanoma,NS c.1272-1G>T p.? 22:41658251-41658251 15
16 COSM103711614 XRCC6 skin,scalp,malignant melanoma,NS c.1299-1G>T p.? 22:41658251-41658251 15
17 COSM95163322 XRCC6 skin,scalp,malignant melanoma,NS c.238C>T p.R80* 22:41636155-41636155 15
18 COSM95165917 XRCC6 skin,scalp,malignant melanoma,NS c.1054C>T p.P352S 22:41650816-41650816 15
19 COSM108016980 XRCC6 skin,scalp,malignant melanoma,NS c.904C>T p.P302S 22:41650816-41650816 15
20 COSM103707744 XRCC6 skin,scalp,malignant melanoma,NS c.196-81C>T p.? 22:41636155-41636155 15
21 COSM103710325 XRCC6 skin,scalp,malignant melanoma,NS c.931C>T p.P311S 22:41650816-41650816 15
22 COSM97227877 XRCC6 skin,scalp,malignant melanoma,NS c.238C>T p.R80* 22:41636155-41636155 15
23 COSM108015015 XRCC6 skin,scalp,malignant melanoma,NS c.88C>T p.R30* 22:41636155-41636155 15
24 COSM95166966 XRCC6 skin,scalp,malignant melanoma,NS c.1422-1G>T p.? 22:41658251-41658251 15
25 COSM106337870 XRCC6 skin,scalp,malignant melanoma,NS c.1422-1G>T p.? 22:41658251-41658251 15
26 COSM108018036 XRCC6 skin,scalp,malignant melanoma,NS c.1272-1G>T p.? 22:41658251-41658251 15
27 COSM97231271 XRCC6 skin,scalp,malignant melanoma,NS c.1422-1G>T p.? 22:41658251-41658251 15
28 COSM106334939 XRCC6 skin,scalp,malignant melanoma,NS c.238C>T p.R80* 22:41636155-41636155 15
29 COSM106336809 XRCC6 skin,scalp,malignant melanoma,NS c.1054C>T p.P352S 22:41650816-41650816 15
30 COSM105839222 XRCC6 skin,scalp,malignant melanoma,NS c.904C>T p.P302S 22:41650816-41650816 15
31 COSM111540596 WT1 skin,scalp,malignant melanoma,NS c.742G>A p.D248N 11:32428524-32428524 15
32 COSM111525675 WT1 skin,neck,malignant melanoma,NS c.1322G>A p.R441Q 11:32392031-32392031 15
33 COSM113471589 WT1 skin,neck,malignant melanoma,NS c.1373G>A p.R458Q 11:32392031-32392031 15
34 COSM100766084 WT1 skin,scalp,malignant melanoma,NS c.847G>A p.E283K 11:32389120-32389120 15
35 COSM148571624 WT1 skin,scalp,malignant melanoma,NS c.1024G>A p.D342N 11:32400022-32400022 15
36 COSM91384800 WT1 skin,scalp,malignant melanoma,NS c.732C>T p.F244= 11:32428534-32428534 15
37 COSM147420112 WT1 skin,scalp,malignant melanoma,NS c.990C>T p.P330= 11:32400005-32400005 15
38 COSM111523859 WT1 skin,scalp,malignant melanoma,NS c.855G>A p.L285= 11:32427973-32427973 15
39 COSM149724575 WT1 skin,neck,malignant melanoma,NS c.1373G>A p.R458Q 11:32392031-32392031 15
40 COSM111534369 WT1 skin,scalp,malignant melanoma,NS c.1397G>A p.W466* 11:32389155-32389155 15
41 COSM148573419 WT1 skin,scalp,malignant melanoma,NS c.1483G>A p.E495K 11:32389120-32389120 15
42 COSM113486484 WT1 skin,scalp,malignant melanoma,NS c.742G>A p.D248N 11:32428524-32428524 15
43 COSM100765008 WT1 skin,scalp,malignant melanoma,NS c.219G>A p.L73= 11:32427973-32427973 15
44 COSM91378277 WT1 skin,scalp,malignant melanoma,NS c.1457G>A p.W486* 11:32389155-32389155 15
45 COSM148575284 WT1 skin,neck,malignant melanoma,NS c.1373G>A p.R458Q 11:32392031-32392031 15
46 COSM130514531 WT1 skin,scalp,malignant melanoma,NS c.770G>A p.W257* 11:32389155-32389155 15
47 COSM100776282 WT1 skin,scalp,malignant melanoma,NS c.405C>T p.P135= 11:32400005-32400005 15
48 COSM113480145 WT1 skin,scalp,malignant melanoma,NS c.1041C>T p.P347= 11:32400005-32400005 15
49 COSM130505084 WT1 skin,scalp,malignant melanoma,NS c.337G>A p.D113N 11:32400022-32400022 15
50 COSM148586611 WT1 skin,scalp,malignant melanoma,NS c.1041C>T p.P347= 11:32400005-32400005 15

Expression for Skin Melanoma

Search GEO for disease gene expression data for Skin Melanoma.

Pathways for Skin Melanoma

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

(show top 50) (show all 131)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.29 TP53 PTEN NRAS MC1R MAP2K1 KIT
2
Show member pathways
13.89 TP53 PTEN NRAS MAP2K1 KIT HRAS
3
Show member pathways
13.83 TP53 NRAS MAP2K1 KIT HRAS GNA11
4
Show member pathways
13.65 NRAS MAP2K1 KIT HRAS GNA11 ERBB2
5
Show member pathways
13.64 TP53 NRAS MAP2K1 KIT HRAS GNA11
6
Show member pathways
13.6 NRAS MAP2K1 KIT HRAS ERBB2 CTNNB1
7
Show member pathways
13.52 PTEN NRAS MAP2K1 HRAS GNA11 FBN1
8
Show member pathways
13.45 TP53 NRAS MAP2K1 KIT HRAS ERBB2
9
Show member pathways
13.42 PTEN NRAS MAP2K1 KIT HRAS GNA11
10
Show member pathways
13.38 NRAS MAP2K1 KIT HRAS ERBB2 CTNNB1
11
Show member pathways
13.34 TP53 NRAS MAP2K1 HRAS GNAQ GNA11
12
Show member pathways
13.23 TP53 PTEN NRAS MAP2K1 HRAS GNAQ
13
Show member pathways
13.2 TP53 PTEN NRAS MAP2K1 KIT HRAS
14
Show member pathways
13.14 TP53 NRAS MAP2K1 HRAS GNA11 CTNNB1
15
Show member pathways
13.09 TP53 PTEN NRAS MAP2K1 KIT HRAS
16
Show member pathways
13.08 PTEN NRAS MAP2K1 HRAS CTNNB1 CDK4
17
Show member pathways
13.05 PTEN NRAS MAP2K1 HRAS ERBB2 CTNNB1
18
Show member pathways
13.03 TP53 NRAS MAP2K1 HRAS GNAQ GNA11
19
Show member pathways
13.02 PTEN NRAS MAP2K1 HRAS GNA11 ERBB2
20
Show member pathways
13.01 NRAS MAP2K1 HRAS GNAQ GNA11 BRAF
21
Show member pathways
12.98 NRAS MAP2K1 KIT HRAS GNAQ GNA11
22
Show member pathways
12.95 PTEN NRAS MAP2K1 HRAS GNAQ GNA11
23
Show member pathways
12.94 NRAS MAP2K1 HRAS GNA11 CTNNB1 BRAF
24 12.92 TP53 NRAS MAP2K1 KIT HRAS ERBB2
25
Show member pathways
12.89 NRAS MAP2K1 KIT HRAS GNAQ CTNNB1
26
Show member pathways
12.89 TP53 PTEN NRAS MAP2K1 HRAS GNAQ
27
Show member pathways
12.87 TP53 PTEN NRAS KIT HRAS ERBB2
28
Show member pathways
12.82 TP53 PTEN NRAS MAP2K1 HRAS ERBB2
29
Show member pathways
12.82 TP53 PTEN NRAS MAP2K1 HRAS ERBB2
30
Show member pathways
12.81 TP53 NRAS MAP2K1 HRAS CDKN2A
31
Show member pathways
12.81 NRAS MAP2K1 HRAS GNA11 CDKN2A BRAF
32
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12.81 NRAS MITF MC1R MAP2K1 KIT HRAS
33
Show member pathways
12.78 NRAS MAP2K1 HRAS GNA11 BRAF
34
Show member pathways
12.78 TP53 NRAS MAP2K1 HRAS BRAF
35
Show member pathways
12.76 NRAS MITF MAP2K1 HRAS BRAF
36
Show member pathways
12.73 TP53 PTEN NRAS MAP2K1 KIT HRAS
37
Show member pathways
12.72 PTEN NRAS MAP2K1 HRAS CDK4
38
Show member pathways
12.71 TP53 NRAS HRAS ERBB2 CTNNB1
39
Show member pathways
12.71 TP53 PTEN NRAS MITF MAP2K1 HRAS
40 12.69 TP53 PTEN NRAS MAP2K1 HRAS ERBB2
41
Show member pathways
12.65 NRAS MAP2K1 HRAS GNAQ GNA11 BRAF
42
Show member pathways
12.64 TP53 PTEN NRAS MAP2K1 HRAS ERBB2
43
Show member pathways
12.62 TP53 PTEN NRAS MAP2K1 HRAS ERBB2
44
Show member pathways
12.61 PTEN NRAS MAP2K1 HRAS ERBB2
45
Show member pathways
12.6 TP53 NRAS MAP2K1 HRAS ERBB2 CTNNB1
46
Show member pathways
12.55 PTEN NRAS MAP2K1 HRAS BRAF
47
Show member pathways
12.55 NRAS MAP2K1 KIT HRAS ERBB2 CTNNB1
48
Show member pathways
12.51 TP53 PTEN NRAS MAP2K1 HRAS CTNNB1
49
Show member pathways
12.49 NRAS MAP2K1 KIT HRAS
50
Show member pathways
12.49 MAP2K1 HRAS CTNNB1 BRAF

GO Terms for Skin Melanoma

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.11 NRAS MC1R MAP2K1 KIT HRAS GNAQ
2 phosphorylation GO:0016310 10.06 MAP2K1 KIT ERBB2 CDKN2A CDK4 BRAF
3 positive regulation of cell proliferation GO:0008284 9.99 PTEN KIT HRAS ERBB2 CTNNB1 CDK4
4 positive regulation of apoptotic process GO:0043065 9.97 TP53 PTEN CTNNB1 CDKN2A CDK4
5 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.93 PTEN MAP2K1 HRAS BRAF
6 protein stabilization GO:0050821 9.92 TP53 PTEN GNAQ CDKN2A
7 negative regulation of cell proliferation GO:0008285 9.91 TP53 PTEN MAP2K1 HRAS CTNNB1 CDKN2A
8 peptidyl-tyrosine phosphorylation GO:0018108 9.85 MAP2K1 KIT ERBB2 BRAF
9 cell cycle arrest GO:0007050 9.84 TP53 MAP2K1 HRAS CDKN2A
10 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.8 PTEN CDKN2A CDK4
11 positive regulation of MAPK cascade GO:0043410 9.8 KIT HRAS ERBB2 CTNNB1
12 MAPK cascade GO:0000165 9.8 NRAS MAP2K1 KIT HRAS ERBB2 BRAF
13 positive regulation of MAP kinase activity GO:0043406 9.78 KIT HRAS ERBB2
14 thymus development GO:0048538 9.73 MAP2K1 CTNNB1 BRAF
15 Ras protein signal transduction GO:0007265 9.71 TP53 NRAS HRAS CDKN2A
16 pigmentation GO:0043473 9.7 MITF MC1R KIT
17 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.65 TP53 MAP2K1
18 developmental pigmentation GO:0048066 9.65 KIT GNA11
19 cellular response to insulin-like growth factor stimulus GO:1990314 9.65 PTEN FBN1
20 somatic stem cell division GO:0048103 9.64 KIT CDKN2A
21 phototransduction, visible light GO:0007603 9.64 GNAQ GNA11
22 cellular senescence GO:0090398 9.63 MAP2K1 HRAS CDKN2A
23 regulation of cell proliferation GO:0042127 9.63 TP53 MITF KIT CTNNB1 CDK4 BRAF
24 positive regulation of DNA-templated transcription, initiation GO:2000144 9.62 MITF CTNNB1
25 entrainment of circadian clock GO:0009649 9.61 GNAQ GNA11
26 trachea formation GO:0060440 9.6 MAP2K1 CTNNB1
27 myeloid progenitor cell differentiation GO:0002318 9.59 KIT BRAF
28 negative regulation of immature T cell proliferation in thymus GO:0033088 9.57 ERBB2 CDKN2A
29 heart development GO:0007507 9.5 TP53 PTEN MAP2K1 GNA11 FBN1 ERBB2
30 canonical Wnt signaling pathway involved in negative regulation of apoptotic process GO:0044336 9.48 MITF CTNNB1
31 regulation of axon regeneration GO:0048679 9.43 PTEN MAP2K1 BRAF
32 positive regulation of gene expression GO:0010628 9.32 TP53 PTEN MITF MAP2K1 KIT HRAS

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.85 MAP2K1 KIT ERBB2 CDK4 BRAF
2 kinase activity GO:0016301 9.8 MAP2K1 KIT ERBB2 CDKN2A CDK4 BRAF
3 protein-containing complex binding GO:0044877 9.77 NRAS HRAS FBN1 CDK4 BRAF
4 protein C-terminus binding GO:0008022 9.71 MAP2K1 HRAS ERBB2 CTNNB1
5 nucleotide binding GO:0000166 9.61 NRAS MAP2K1 KIT HRAS GNAQ GNA11
6 MDM2/MDM4 family protein binding GO:0097371 9.43 TP53 CDKN2A
7 disordered domain specific binding GO:0097718 9.33 TP53 CTNNB1 CDKN2A
8 type 2A serotonin receptor binding GO:0031826 9.26 GNAQ GNA11
9 protein tyrosine kinase activity GO:0004713 8.92 MAP2K1 KIT ERBB2 BRAF

Sources for Skin Melanoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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