MCID: MLG108
MIFTS: 57

Malignant Melanoma, Somatic

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Cancer diseases

Aliases & Classifications for Malignant Melanoma, Somatic

MalaCards integrated aliases for Malignant Melanoma, Somatic:

Name: Malignant Melanoma, Somatic 54 24
Familial Melanoma 12 56 14
Dysplastic Nevus Syndrome 24 69
Cutaneous Melanoma 24 69
Familial Atypical Multiple Mole Melanoma Syndrome 24
Familial Atypical Mole Melanoma Syndrome 69
Melanoma, Cutaneous Malignant, 1 13
Cutaneous Malignant Melanoma 1 29
Cutaneous Malignant Melanoma 24
Melanoma, Malignant, Somatic 13
Hereditary Melanoma 69
Melanoma, Familial 50
Melanoma 69
Fammm 24
Cmm 24

Characteristics:

Orphanet epidemiological data:

56
familial melanoma
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Adult;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
malignant melanoma, somatic:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Malignant Melanoma, Somatic

OMIM : 54
Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). (155600)

MalaCards based summary : Malignant Melanoma, Somatic, also known as familial melanoma, is related to dysplastic nevus syndrome and cdk4-related cutaneous malignant melanoma, and has symptoms including dry skin, freckling and melanoma. An important gene associated with Malignant Melanoma, Somatic is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are ERK Signaling and Cell Cycle, Mitotic. The drugs Mekinist and nivolumab have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and testes, and related phenotypes are Decreased viability and cellular

Related Diseases for Malignant Melanoma, Somatic

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

(show top 50) (show all 101)
id Related Disease Score Top Affiliating Genes
1 dysplastic nevus syndrome 12.5
2 cdk4-related cutaneous malignant melanoma 12.0
3 cdkn2a-related cutaneous malignant melanoma 12.0
4 mc1r-related cutaneous malignant melanoma 12.0
5 mitf-related susceptibility to cutaneous malignant melanoma 12.0
6 pot1-related susceptibility to cutaneous malignant melanoma 12.0
7 tert-related cutaneous malignant melanoma 12.0
8 xrcc3-related cutaneous malignant melanoma 12.0
9 melanoma, cutaneous malignant 8 11.6
10 melanoma, cutaneous malignant, 2 11.6
11 melanoma, cutaneous malignant, 6 11.6
12 mirror movements 1 and/or agenesis of the corpus callosum 11.6
13 skin melanoma 11.3
14 superficial spreading melanoma 11.2
15 melanoma, cutaneous malignant, 9 11.1
16 melanoma, cutaneous malignant, 3 11.1
17 melanoma, cutaneous malignant, 5 11.1
18 skeletal tuberculosis 11.0 CDKN2A ERBB2
19 raf1-related noonan syndrome 11.0 BRAF NRAS
20 tumor predisposition syndrome 11.0
21 tmem38b-related osteogenesis imperfecta 11.0 BRAF ERBB2
22 testis seminoma 11.0 CDKN2A ERBB2
23 mirror polydactyly-vertebral segmentation-limbs defects syndrome 10.9 BAP1 BRAF
24 sublingual gland adenoid cystic carcinoma 10.9 KIT NRAS PTEN
25 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes 10.9 BRAF CDKN2A PTEN
26 rectum kaposi's sarcoma 10.9 ERBB2 KIT PTEN
27 vulval paget's disease 10.9 CDKN2A KIT NRAS
28 melanocytic nevus syndrome, congenital, somatic 10.9 MC1R NRAS STK11
29 bone marrow cancer 10.9 CDKN2A KIT NRAS
30 endometriosis of uterus 10.9 CDKN2A ERBB2 PTEN
31 split hand split foot nystagmus 10.9 BRAF CDKN2A
32 fallopian tube serous papilloma 10.9 KIT MITF NRAS
33 extraosseous osteosarcoma 10.9 CDK4 CDKN2A KIT
34 trachea squamous cell carcinoma 10.9 CDKN2A ERBB2 PTEN
35 epidermolysis bullosa simplex-mcr 10.8 KIT MITF STK11
36 anca-associated vasculitis 10.8 CDKN2A MGMT POT1
37 glomus tumor 10.8 KIT MITF
38 prostate cancer, hereditary, x-linked 1 10.8 KIT PTEN STK11
39 epidural neoplasm 10.8 CDK4 CDKN2A
40 leucocyte adhesion defect 10.8 MC1R MITF
41 kidney hypertrophy 10.8 CDKN2A KIT MITF
42 juvenile astrocytoma 10.8 BRAF MGMT PTEN
43 gallbladder cancer 10.8 CDKN2A ERBB2 KIT PTEN
44 leydig cell tumor 10.8 CDK4 CDKN2B MITF
45 bardet-biedl syndrome 10.8 CDKN2A ERBB2 PTEN
46 pharynx cancer 10.8 BAP1 CDK4 CDKN2A
47 small cell sarcoma 10.8 CDK4 CDKN2A CDKN2B
48 nail disorder, nonsyndromic congenital, 1 10.7 CDKN2A ERBB2 PTEN TERT
49 fibrous meningioma 10.7 CDKN2A NRAS
50 grade iii astrocytoma 10.7 CDK4 MGMT PTEN

Graphical network of the top 20 diseases related to Malignant Melanoma, Somatic:



Diseases related to Malignant Melanoma, Somatic

Symptoms & Phenotypes for Malignant Melanoma, Somatic

Symptoms via clinical synopsis from OMIM:

54

Neoplasia:
malignant melanoma

Skin Nails & Hair- Skin:
atypical nevi (>5mm with irregular edge and pigmentation)
numerous nevi
atypical nevi often present in non-sun exposed areas

Head And Neck- Eyes:
intraocular melanoma


Clinical features from OMIM:

155600

Human phenotypes related to Malignant Melanoma, Somatic:

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dry skin 56 32 frequent (33%) Frequent (79-30%) HP:0000958
2 freckling 56 32 frequent (33%) Frequent (79-30%) HP:0001480
3 melanoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0002861
4 retinopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000488
5 nevus 56 32 hallmark (90%) Very frequent (99-80%) HP:0003764
6 abnormality of the lymphatic system 56 32 frequent (33%) Frequent (79-30%) HP:0100763
7 abnormality of extrapyramidal motor function 56 32 occasional (7.5%) Occasional (29-5%) HP:0002071
8 neoplasm of the pancreas 56 32 occasional (7.5%) Occasional (29-5%) HP:0002894
9 abnormality of the hair 56 32 frequent (33%) Frequent (79-30%) HP:0001595
10 neoplasm of the breast 56 32 occasional (7.5%) Occasional (29-5%) HP:0100013
11 neoplasm of the stomach 56 32 occasional (7.5%) Occasional (29-5%) HP:0006753
12 cutaneous melanoma 32 HP:0012056
13 intraocular melanoma 32 HP:0007716
14 numerous nevi 32 HP:0001054
15 abnormality of the eye 32 HP:0000478
16 atypical nevus 32 HP:0001062
17 atypical nevi in non-sun exposed areas 32 HP:0001074

UMLS symptoms related to Malignant Melanoma, Somatic:


exanthema, pruritus

GenomeRNAi Phenotypes related to Malignant Melanoma, Somatic according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.1 BRAF
2 Decreased viability GR00221-A-1 10.1 POT1 TERF2IP CDKN2A KIT NRAS
3 Decreased viability GR00221-A-2 10.1 TERF2IP
4 Decreased viability GR00221-A-3 10.1 NRAS CDKN2A ERBB2 POT1
5 Decreased viability GR00221-A-4 10.1 ERBB2 POT1 TERF2IP CDKN2A BRAF
6 Decreased viability GR00301-A 10.1 BRAF KIT
7 Decreased viability GR00381-A-1 10.1 BRAF
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 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.65 CDK4 ERBB2 NRAS PTEN STK11
13 Decreased cella89culturea89derived Hepatitis C virus (HCVcc GR00234-A-2 9.5 BRAF CDK4 STK11
14 Increased cell viability after pRB stimulation GR00230-A-1 8.92 CDK4 ERBB2 KIT STK11

MGI Mouse Phenotypes related to Malignant Melanoma, Somatic:

44 (show all 24)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.54 BAP1 BRAF CDK4 CDKN2A CDKN2B CDKN2D
2 endocrine/exocrine gland MP:0005379 10.46 ACD BAP1 BRAF CDK4 CDKN2A CDKN2B
3 growth/size/body region MP:0005378 10.45 ACD BAP1 BRAF CDK4 CDKN2A CDKN2D
4 homeostasis/metabolism MP:0005376 10.45 BRAF CDK4 CDKN2A CDKN2B CDKN2D ERBB2
5 mortality/aging MP:0010768 10.41 PTEN STK11 TERF2IP TERT ACD BAP1
6 behavior/neurological MP:0005386 10.4 KIT MC1R MITF NRAS PTEN STK11
7 integument MP:0010771 10.37 STK11 TERF2IP ACD BAP1 BRAF CDK4
8 immune system MP:0005387 10.35 MITF NRAS PTEN STK11 TERF2IP TERT
9 digestive/alimentary MP:0005381 10.34 ACD BAP1 BRAF CDK4 CDKN2A ERBB2
10 hematopoietic system MP:0005397 10.34 BAP1 BRAF CDK4 CDKN2A CDKN2B KIT
11 embryo MP:0005380 10.33 BAP1 BRAF CDK4 CDKN2A ERBB2 KIT
12 neoplasm MP:0002006 10.31 STK11 TERT ACD BAP1 BRAF CDK4
13 craniofacial MP:0005382 10.21 BRAF ERBB2 KIT MC1R MITF NRAS
14 no phenotypic analysis MP:0003012 10.14 BAP1 CDKN2A CDKN2B KIT MC1R MGMT
15 muscle MP:0005369 10.11 BAP1 BRAF CDK4 CDKN2A CDKN2D ERBB2
16 liver/biliary system MP:0005370 10.1 BRAF CDK4 CDKN2A KIT NRAS PTEN
17 limbs/digits/tail MP:0005371 10.05 ACD ERBB2 KIT MC1R MITF NRAS
18 hearing/vestibular/ear MP:0005377 10.04 MC1R MITF ACD BRAF CDKN2D KIT
19 normal MP:0002873 10.02 BRAF CDK4 ERBB2 KIT MITF NRAS
20 pigmentation MP:0001186 10.02 ACD BRAF CDK4 CDKN2A KIT MC1R
21 reproductive system MP:0005389 10 ACD BAP1 BRAF CDK4 CDKN2A CDKN2B
22 renal/urinary system MP:0005367 9.8 ACD BRAF CDK4 CDKN2B KIT PTEN
23 respiratory system MP:0005388 9.65 BAP1 BRAF CDKN2A CDKN2D ERBB2 KIT
24 vision/eye MP:0005391 9.28 BRAF CDK4 CDKN2A CDKN2D KIT MITF

Drugs & Therapeutics for Malignant Melanoma, Somatic

FDA approved drugs:

id Drug Name Active Ingredient(s) 17 Company Approval Date
1
Mekinist 17 46 TRAMETINIB DIMETHYL SULFOXIDE GlaxoSmithKline May of 2013

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

(show all 16)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
nivolumab Approved Phase 3 946414-94-4
2
Fotemustine Experimental Phase 3,Phase 2
3 Antibodies Phase 3,Phase 2
4 Antibodies, Monoclonal Phase 3,Phase 2
5 Immunoglobulins Phase 3,Phase 2
6
Aldesleukin Approved Phase 1, Phase 2 85898-30-2, 110942-02-4
7
Dabrafenib Approved Phase 2 44462760 44516822
8
Dimethyl sulfoxide Approved, Vet_approved Phase 2 67-68-5 679
9
Trametinib Approved Phase 2 871700-17-3 11707110
10 Imatinib Mesylate Phase 2 123596
11 Protein Kinase Inhibitors Phase 2
12 Antioxidants Phase 2
13 Mitogens Phase 2
14 Protective Agents Phase 2
15
Pancrelipase Approved 53608-75-6
16 pancreatin

Interventional clinical trials:

(show all 12)

id Name Status NCT ID Phase Drugs
1 A Study of Fotemustine(FTM) Vs FTM and Ipilimumab (IPI) or IPI and Nivolumab in Melanoma Brain Metastasis Recruiting NCT02460068 Phase 3 Fotemustine;Fotemustine and Ipilimumab;Ipilimumab and nivolumab
2 Imatinib Mesylate in Treating Patients With Stage III or Stage IV Melanoma That Cannot Be Removed by Surgery Completed NCT00470470 Phase 2 imatinib mesylate
3 A Study to Evaluate RAF265, an Oral Drug Administered to Subjects With Locally Advanced or Metastatic Melanoma Completed NCT00304525 Phase 2 RAF265
4 A Combination of Ipilimumab and Fotemustine for Treat Unresectable Locally Advanced or Metastatic Melanoma Completed NCT01654692 Phase 2 Ipilimumab and Fotemustine
5 Adoptive Transfer of Specific Melanoma Antigens CD8+ T Cells in Metastatic Melanoma Patients: a Phase I/II Study Recruiting NCT02424916 Phase 1, Phase 2
6 Dabrafenib and Trametinib in People With BRAF V600E Mutation Positive Lesions in Erdheim Chester Disease Suspended NCT02281760 Phase 2 Dabrafenib Mesylate;Trametinib Dimethyl Sulfoxide
7 131-I-TM-601 Study in Adults With Solid Tumors Completed NCT00379132 Phase 1 131-I-TM-601 (chlorotoxin)
8 Culture and Characterization of Circulating Tumor Cells (CTC) in Melanoma and Other Cancers Completed NCT01528774
9 Clinical and Histopathologic Characteristics of BAP1 Mutations Recruiting NCT01773655
10 Molecular Characterization of Advanced Stage Melanoma by Blood Sampling Recruiting NCT02862743
11 EXPRESS: EXcePtional RESponSe - Exceptional and Unexpected Response to Targeted Therapies Recruiting NCT02701907
12 Molecular Testing for the MD Anderson Cancer Center Personalized Cancer Therapy Program Recruiting NCT01772771

Search NIH Clinical Center for Malignant Melanoma, Somatic

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Malignant Melanoma, Somatic

Genetic tests related to Malignant Melanoma, Somatic:

id Genetic test Affiliating Genes
1 Cutaneous Malignant Melanoma 1 29
2 Malignant Melanoma, Somatic 24 BRAF KIT NRAS PTEN CDKN2A
3 Cutaneous Malignant Melanoma 24

Anatomical Context for Malignant Melanoma, Somatic

MalaCards organs/tissues related to Malignant Melanoma, Somatic:

39
Skin, Eye, Testes, Pancreas, Breast, T Cells, Brain

Publications for Malignant Melanoma, Somatic

Variations for Malignant Melanoma, Somatic

ClinVar genetic disease variations for Malignant Melanoma, Somatic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 STK11 NM_000455.4(STK11): c.580G> T (p.Asp194Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913315 GRCh37 Chromosome 19, 1220487: 1220487
2 STK11 NM_000455.4(STK11): c.508C> T (p.Gln170Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121913323 GRCh37 Chromosome 19, 1220415: 1220415
3 STK11 NM_000455.4(STK11): c.145T> G (p.Tyr49Asp) single nucleotide variant Pathogenic rs137853080 GRCh37 Chromosome 19, 1207057: 1207057
4 STK11 NM_000455.4(STK11): c.403G> C (p.Gly135Arg) single nucleotide variant Pathogenic rs137853081 GRCh37 Chromosome 19, 1219351: 1219351
5 CDKN2A NM_000077.4(CDKN2A): c.301G> T (p.Gly101Trp) single nucleotide variant Pathogenic,risk factor rs104894094 GRCh37 Chromosome 9, 21971057: 21971057
6 CDKN2A NM_000077.4(CDKN2A): c.106dupG (p.Ala36Glyfs) duplication Pathogenic rs398123152 GRCh37 Chromosome 9, 21974721: 21974721

Cosmic variations for Malignant Melanoma, Somatic:

9 (show all 14)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM580 NRAS skin,ear,malignant melanoma,NS c.181C>A p.Q61K 7
2 COSM5049808 NF1 skin,ear,malignant melanoma,NS c.3652C>T p.Q1218* 7
3 COSM5049807 NF1 skin,ear,malignant melanoma,NS c.3097C>T p.Q1033* 7
4 COSM1651647 KIT skin,eye,malignant melanoma,NS c.1459G>A p.G487S 7
5 COSM109660 GRIN2A skin,ear,malignant melanoma,NS c.4097C>T p.P1366L 7
6 COSM106626 GRIN2A skin,ear,malignant melanoma,NS c.1959G>A p.M653I 7
7 COSM110485 GRIN2A skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 7
8 COSM141892 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 7
9 COSM141856 CHRM3 skin,ear,malignant melanoma,NS c.1741T>A p.F581I 7
10 COSM478 BRAF skin,ear,malignant melanoma,NS c.1801A>G p.K601E 7
11 COSM476 BRAF skin,ear,malignant melanoma,NS c.1799T>A p.V600E 7
12 COSM471 BRAF skin,ear,malignant melanoma,NS c.1790T>G p.L597R 7
13 COSM27639 BRAF skin,ear,malignant melanoma,NS c.1780G>A p.D594N 7
14 COSM1125 BRAF skin,ear,malignant melanoma,NS c.1790T>A p.L597Q 7

Copy number variations for Malignant Melanoma, Somatic from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 15007 1 111800000 116100000 Amplification NRAS Cutaneous malignant melanoma
2 30467 1 243700000 249250621 Copy number AKT3 Cutaneous malignant melanoma
3 47154 10 89613174 89718512 Loss PTEN Cutaneous malignant melanoma
4 226597 7 59900000 159138663 Amplification BRAF Cutaneous malignant melanoma

Expression for Malignant Melanoma, Somatic

Search GEO for disease gene expression data for Malignant Melanoma, Somatic.

Pathways for Malignant Melanoma, Somatic

Pathways related to Malignant Melanoma, Somatic according to GeneCards Suite gene sharing:

(show all 26)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 BRAF CDK4 CDKN2A CDKN2B CDKN2D ERBB2
2
Show member pathways
13.35 ACD CDK4 CDKN2A CDKN2B CDKN2D POT1
3 12.56 CDK4 IFNA17 KIT NRAS PTEN STK11
4 12.41 ACD CDK4 CDKN2A MGMT TERF2IP
5
Show member pathways
12.39 BRAF ERBB2 NRAS PTEN STK11
6
Show member pathways
12.38 BRAF CDK4 CDKN2A CDKN2B ERBB2 KIT
7 12.3 CDK4 CDKN2A CDKN2B NRAS TERT
8
Show member pathways
12.27 KIT MC1R MITF NRAS
9 12.27 CDK4 CDKN2A CDKN2B CDKN2D
10
Show member pathways
12.25 CDK4 CDKN2A CDKN2B CDKN2D
11 12.2 CDK4 CDKN2A CDKN2B NRAS
12
Show member pathways
12.15 BRAF CDK4 ERBB2 NRAS PTEN
13 12.06 BRAF CDK4 PTEN STK11
14 11.93 CDK4 CDKN2A MGMT PTEN STK11
15 11.87 CDKN2A ERBB2 NRAS PTEN
16 11.87 BRAF CDK4 CDKN2A CDKN2B ERBB2 KIT
17
Show member pathways
11.77 BRAF CDKN2B CDKN2D NRAS PTEN STK11
18 11.73 CDK4 CDKN2B PTEN
19
Show member pathways
11.71 BRAF KIT NRAS
20 11.58 ACD POT1 TERF2IP TERT
21 11.55 ERBB2 KIT NRAS PTEN
22 11.52 BRAF CDK4 CDKN2A ERBB2 NRAS
23 11.48 BRAF CDK4 CDKN2A MGMT NRAS PTEN
24 11.41 CDK4 CDKN2B PTEN
25 11.35 KIT MC1R MITF
26 11.13 CDK4 CDKN2A CDKN2B CDKN2D

GO Terms for Malignant Melanoma, Somatic

Cellular components related to Malignant Melanoma, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 9.67 ACD POT1 TERF2IP TERT
2 chromosome, telomeric region GO:0000781 9.46 ACD POT1 TERF2IP TERT
3 cyclin D2-CDK4 complex GO:0097129 9.32 CDK4 CDKN2D
4 telosome GO:0070187 9.13 ACD POT1 TERF2IP
5 nuclear telomere cap complex GO:0000783 8.92 ACD POT1 TERF2IP TERT
6 nucleus GO:0005634 10.28 ACD BAP1 BRAF CDK4 CDKN2A CDKN2B
7 nucleoplasm GO:0005654 10.03 ACD BAP1 CDK4 CDKN2A CDKN2D MGMT

Biological processes related to Malignant Melanoma, Somatic according to GeneCards Suite gene sharing:

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.89 BRAF ERBB2 KIT NRAS
2 negative regulation of cell proliferation GO:0008285 9.85 BAP1 CDKN2A CDKN2B CDKN2D PTEN STK11
3 cell cycle arrest GO:0007050 9.8 CDKN2A CDKN2B CDKN2D STK11
4 regulation of protein stability GO:0031647 9.73 CDKN2A PTEN TERT
5 telomere maintenance GO:0000723 9.65 ACD TERF2IP TERT
6 positive regulation of gene expression GO:0010628 9.65 BRAF ERBB2 KIT MITF PTEN
7 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 9.63 CDKN2B CDKN2D PTEN
8 response to inorganic substance GO:0010035 9.6 BAP1 PTEN
9 replicative senescence GO:0090399 9.58 CDKN2A TERT
10 protein localization to chromosome, telomeric region GO:0070198 9.58 ACD TERF2IP
11 telomere capping GO:0016233 9.58 ACD POT1 TERF2IP
12 somatic stem cell division GO:0048103 9.57 CDKN2A KIT
13 phosphorylation GO:0016310 9.56 BRAF CDK4 CDKN2A CDKN2B CDKN2D ERBB2
14 protection from non-homologous end joining at telomere GO:0031848 9.55 ACD TERF2IP
15 regulation of axon regeneration GO:0048679 9.54 BRAF PTEN
16 myeloid progenitor cell differentiation GO:0002318 9.52 BRAF KIT
17 negative regulation of immature T cell proliferation in thymus GO:0033088 9.51 CDKN2A ERBB2
18 negative regulation of phosphorylation GO:0042326 9.5 CDKN2A CDKN2B CDKN2D
19 telomere assembly GO:0032202 9.43 ACD POT1
20 telomere maintenance via telomerase GO:0007004 9.33 POT1 TERF2IP TERT
21 establishment of protein localization to telomere GO:0070200 8.8 ACD POT1 TERT

Molecular functions related to Malignant Melanoma, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.8 BRAF CDK4 ERBB2 KIT STK11
2 nucleotide binding GO:0000166 9.65 BRAF CDK4 ERBB2 KIT NRAS
3 kinase activity GO:0016301 9.56 BRAF CDK4 CDKN2A CDKN2B CDKN2D ERBB2
4 G-rich strand telomeric DNA binding GO:0098505 9.37 POT1 TERF2IP
5 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 9.33 CDKN2A CDKN2B CDKN2D
6 signal transducer, downstream of receptor, with protein tyrosine kinase activity GO:0004716 9.32 ERBB2 KIT
7 telomeric DNA binding GO:0042162 8.92 ACD POT1 TERF2IP TERT

Sources for Malignant Melanoma, Somatic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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