Melanoma Gene Set

Dataset DISEASES Experimental Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)|A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. (Experimental Factor Ontology, EFO_0000756)
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Genes

274 genes associated with the disease Melanoma in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 2.057
TCF25 transcription factor 25 (basic helix-loop-helix) 2.057
TUBB3 tubulin, beta 3 class III 2.057
SPIRE2 spire-type actin nucleation factor 2 2.057
MTAP methylthioadenosine phosphorylase 2.036
FANCA Fanconi anemia, complementation group A 2.033
DBNDD1 dysbindin (dystrobrevin binding protein 1) domain containing 1 2.033
DPEP1 dipeptidase 1 (renal) 2.033
DEF8 differentially expressed in FDCP 8 homolog (mouse) 2.033
CHMP1A charged multivesicular body protein 1A 2.033
CDK10 cyclin-dependent kinase 10 2.033
ZNF276 zinc finger protein 276 2.033
SPATA33 spermatogenesis associated 33 2.033
VPS9D1 VPS9 domain containing 1 2.033
GAS8 growth arrest-specific 8 2.033
SPATA2L spermatogenesis associated 2-like 2.033
PIGU phosphatidylinositol glycan anchor biosynthesis, class U 2.008
MAP1LC3A microtubule-associated protein 1 light chain 3 alpha 2.008
NCOA6 nuclear receptor coactivator 6 2.008
TERT telomerase reverse transcriptase 2.003
CLPTM1L CLPTM1-like 2.003
SLC6A18 solute carrier family 6 (neutral amino acid transporter), member 18 2.003
SLK STE20-like kinase 1.998
SH3PXD2A SH3 and PX domains 2A 1.998
STN1 STN1 subunit of CST complex 1.998
OCA2 oculocutaneous albinism II 1.992
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 1.992
PRDM7 PR domain containing 7 1.992
CPNE7 copine VII 1.991
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 1.98
AHR aryl hydrocarbon receptor 1.979
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19 1.966
SETDB1 SET domain, bifurcated 1 1.956
WASL-DT WASL divergent transcript 1.956
ANXA9 annexin A9 1.956
CERS2 ceramide synthase 2 1.956
TYR tyrosinase 1.943
GRM5 glutamate receptor, metabotropic 5 1.943
NOX4 NADPH oxidase 4 1.943
EIF2S2 eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa 1.942
RALY RALY heterogeneous nuclear ribonucleoprotein 1.942
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) 1.941
CDKN2A cyclin-dependent kinase inhibitor 2A 1.941
RXFP3 relaxin/insulin-like family peptide receptor 3 1.94
C1QTNF3 C1q and tumor necrosis factor related protein 3 1.94
AMACR alpha-methylacyl-CoA racemase 1.94
ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif, 12 1.94
SLC45A2 solute carrier family 45, member 2 1.94
LYSMD3 LysM, putative peptidoglycan-binding, domain containing 3 1.902
ADGRV1 adhesion G protein-coupled receptor V1 1.902
MITF microphthalmia-associated transcription factor 1.896
C11ORF65 chromosome 11 open reading frame 65 1.889
ATM ATM serine/threonine kinase 1.889
NPAT nuclear protein, ataxia-telangiectasia locus 1.889
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 1.885
RMDN2 regulator of microtubule dynamics 2 1.885
MYNN myoneurin 1.85
ACTRT3 actin-related protein T3 1.85
LRRC34 leucine rich repeat containing 34 1.85
LRRC31 leucine rich repeat containing 31 1.85
LRRIQ4 leucine-rich repeats and IQ motif containing 4 1.85
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) 1.837
SLC16A8 solute carrier family 16 (monocarboxylate transporter), member 8 1.837
PICK1 protein interacting with PRKCA 1 1.837
BAIAP2L2 BAI1-associated protein 2-like 2 1.837
MAFF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F 1.837
TMEM184B transmembrane protein 184B 1.837
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) 1.832
RPL13 ribosomal protein L13 1.832
ANKRD11 ankyrin repeat domain 11 1.832
FAM3B family with sequence similarity 3, member B 1.83
TMPRSS2 transmembrane protease, serine 2 1.83
MX2 MX dynamin-like GTPase 2 1.83
BACE2 beta-site APP-cleaving enzyme 2 1.83
MX1 MX dynamin-like GTPase 1 1.83
MKLN1 muskelin 1, intracellular mediator containing kelch motifs 1.817
PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta 1.813
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha 1.813
ARNT aryl hydrocarbon receptor nuclear translocator 1.797
DCST1 DC-STAMP domain containing 1 1.796
EFNA4 ephrin-A4 1.796
PMVK phosphomevalonate kinase 1.796
EFNA3 ephrin-A3 1.796
LENEP lens epithelial protein 1.796
CKS1B CDC28 protein kinase regulatory subunit 1B 1.796
FLAD1 flavin adenine dinucleotide synthetase 1 1.796
DCST2 DC-STAMP domain containing 2 1.796
PBXIP1 pre-B-cell leukemia homeobox interacting protein 1 1.796
PYGO2 pygopus family PHD finger 2 1.796
SHC1 SHC (Src homology 2 domain containing) transforming protein 1 1.796
ZBTB7B zinc finger and BTB domain containing 7B 1.796
ADAM15 ADAM metallopeptidase domain 15 1.796
CDKAL1 CDK5 regulatory subunit associated protein 1-like 1 1.793
BNIPL BCL2/adenovirus E1B 19kD interacting protein like 1.791
MINDY1 MINDY lysine 48 deubiquitinase 1 1.791
CDC42SE1 CDC42 small effector 1 1.791
C1ORF56 chromosome 1 open reading frame 56 1.791
PRUNE1 prune exopolyphosphatase 1 1.791
MLLT11 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11 1.791
DYNLRB1 dynein, light chain, roadblock-type 1 1.754
ITCH itchy E3 ubiquitin protein ligase 1.754
MED13L mediator complex subunit 13-like 1.748
MYH7B myosin, heavy chain 7B, cardiac muscle, beta 1.735
GSS glutathione synthetase 1.735
TRPC4AP transient receptor potential cation channel, subfamily C, member 4 associated protein 1.735
ACSS2 acyl-CoA synthetase short-chain family member 2 1.735
FMN1 formin 1 1.727
GREM1 gremlin 1, DAN family BMP antagonist 1.727
TP53INP2 tumor protein p53 inducible nuclear protein 2 1.725
CDH3 cadherin 3, type 1, P-cadherin (placental) 1.716
CDH1 cadherin 1, type 1, E-cadherin (epithelial) 1.716
TANGO6 transport and golgi organization 6 homolog (Drosophila) 1.716
TRPA1 transient receptor potential cation channel, subfamily A, member 1 1.711
MMP24OS MMP24 opposite strand 1.686
MMP24 matrix metallopeptidase 24 (membrane-inserted) 1.686
UQCC1 ubiquinol-cytochrome c reductase complex assembly factor 1 1.686
EIF6 eukaryotic translation initiation factor 6 1.686
PROCR protein C receptor, endothelial 1.686
SACK1C scaffolding CK1 anchoring protein C 1.686
MCF2L MCF.2 cell line derived transforming sequence-like 1.671
ATP11A ATPase, class VI, type 11A 1.671
STMN3 stathmin-like 3 1.66
ZBTB46 zinc finger and BTB domain containing 46 1.66
GMEB2 glucocorticoid modulatory element binding protein 2 1.66
RTEL1 regulator of telomere elongation helicase 1 1.66
SLC2A4RG SLC2A4 regulator 1.66
ARFRP1 ADP-ribosylation factor related protein 1 1.66
ZGPAT zinc finger, CCCH-type with G patch domain 1.66
TNFRSF6B tumor necrosis factor receptor superfamily, member 6b, decoy 1.66
LIME1 Lck interacting transmembrane adaptor 1 1.66
POT1 protection of telomeres 1 1.593
GPR37 G protein-coupled receptor 37 (endothelin receptor type B-like) 1.593
TYRP1 tyrosinase-related protein 1 1.579
RPGRIP1L RPGRIP1-like 1.56
FTO fat mass and obesity associated 1.56
EPB41L1 erythrocyte membrane protein band 4.1-like 1 1.554
CNBD2 cyclic nucleotide binding domain containing 2 1.554
SCAND1 SCAN domain containing 1 1.554
LURAP1L leucine rich adaptor protein 1-like 1.536
DDX47 DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 1.521
APOLD1 apolipoprotein L domain containing 1 1.521
HEBP1 heme binding protein 1 1.521
GPRC5D G protein-coupled receptor, class C, group 5, member D 1.521
GPRC5A G protein-coupled receptor, class C, group 5, member A 1.521
POGLUT3 protein O-glucosyltransferase 3 1.495
SENP3 SUMO1/sentrin/SMT3 specific peptidase 3 1.478
SOX15 SRY (sex determining region Y)-box 15 1.478
SAT2 spermidine/spermine N1-acetyltransferase family member 2 1.478
EIF4A1 eukaryotic translation initiation factor 4A1 1.478
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide 1.478
EFNB3 ephrin-B3 1.478
CD68 CD68 molecule 1.478
SHBG sex hormone-binding globulin 1.478
MPDU1 mannose-P-dolichol utilization defect 1 1.478
FXR2 fragile X mental retardation, autosomal homolog 2 1.478
DNAH2 dynein, axonemal, heavy chain 2 1.478
TP53 tumor protein p53 1.478
WRAP53 WD repeat containing, antisense to TP53 1.478
DTNB dystrobrevin, beta 1.451
CTSK cathepsin K 1.425
NUP50 nucleoporin 50kDa 1.423
CASP8 caspase 8, apoptosis-related cysteine peptidase 1.423
UPK3A uroplakin 3A 1.423
TRAK2 trafficking protein, kinesin binding 2 1.423
CASP10 caspase 10, apoptosis-related cysteine peptidase 1.423
SIRAL2 SIR2 antiphage like 2 1.423
FLACC1 flagellum associated containing coiled-coil domains 1 1.423
KIAA0930 KIAA0930 1.423
HELZ2 helicase with zinc finger 2, transcriptional coactivator 1.406
DMRTA1 DMRT-like family A1 1.406
RAB5IF RAB5 interacting factor 1.369
SLA2 Src-like-adaptor 2 1.369
MYL9 myosin, light chain 9, regulatory 1.369
TGIF2 TGFB-induced factor homeobox 2 1.369
NDRG3 NDRG family member 3 1.369
DLGAP4 discs, large (Drosophila) homolog-associated protein 4 1.369
AKAP12 A kinase (PRKA) anchor protein 12 1.364
AGR3 anterior gradient 3 1.363
SOX6 SRY (sex determining region Y)-box 6 1.355
OSMR oncostatin M receptor 1.313
ACSF3 acyl-CoA synthetase family member 3 1.302
ZNF778 zinc finger protein 778 1.294
SLC22A31 solute carrier family 22, member 31 1.294
CDH15 cadherin 15, type 1, M-cadherin (myotubule) 1.294
STRADB STE20-related kinase adaptor beta 1.284
TDP1 tyrosyl-DNA phosphodiesterase 1 1.237
EFCAB11 EF-hand calcium binding domain 11 1.237
KCNK13 potassium channel, two pore domain subfamily K, member 13 1.237
LTA4H leukotriene A4 hydrolase 1.201
CCDC38 coiled-coil domain containing 38 1.201
SNRPF small nuclear ribonucleoprotein polypeptide F 1.201
AMDHD1 amidohydrolase domain containing 1 1.201
HAL histidine ammonia-lyase 1.201
MFSD12 major facilitator superfamily domain containing 12 1.156
SMIM24 small integral membrane protein 24 1.156
NFIC nuclear factor I/C (CCAAT-binding transcription factor) 1.156
TBXA2R thromboxane A2 receptor 1.156
CACTIN cactin, spliceosome C complex subunit 1.156
FZR1 fizzy/cell division cycle 20 related 1 (Drosophila) 1.156
GIPC3 GIPC PDZ domain containing family, member 3 1.156
HMG20B high mobility group 20B 1.156
DOHH deoxyhypusine hydroxylase/monooxygenase 1.156
PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 1.156
ASIP agouti signaling protein 1.143
SUGCT succinyl-CoA:glutarate-CoA transferase 1.121
COL17A1 collagen, type XVII, alpha 1 1.079
CCND1 cyclin D1 1.079
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 1.071
AP4B1 adaptor-related protein complex 4, beta 1 subunit 1.071
OLFML3 olfactomedin-like 3 1.071
RSBN1 round spermatid basic protein 1 1.071
DCLRE1B DNA cross-link repair 1B 1.071
HIPK1 homeodomain interacting protein kinase 1 1.071
BCL2L15 BCL2-like 15 1.071
GABPB2 GA binding protein transcription factor, beta subunit 2 1.04
BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2 1.017
HR hair growth associated 1.001
NPM2 nucleophosmin/nucleoplasmin 2 1.001
FGF17 fibroblast growth factor 17 1.001
BMP1 bone morphogenetic protein 1 1.001
NUDT18 nudix (nucleoside diphosphate linked moiety X)-type motif 18 1.001
XPO7 exportin 7 1.001
DMTN dematin actin binding protein 1.001
LGI3 leucine-rich repeat LGI family, member 3 1.001
SFTPC surfactant protein C 1.001
REEP4 receptor accessory protein 4 1.001
PARP1 poly (ADP-ribose) polymerase 1 0.987
TRABD TraB domain containing 0.96
TUBGCP6 tubulin, gamma complex associated protein 6 0.96
MAPK12 mitogen-activated protein kinase 12 0.96
DENND6B DENN/MADD domain containing 6B 0.96
PLXNB2 plexin B2 0.96
SELENOO selenoprotein O 0.96
PPP6R2 protein phosphatase 6, regulatory subunit 2 0.96
HDAC10 histone deacetylase 10 0.96
MAPK11 mitogen-activated protein kinase 11 0.96
FOXD3 forkhead box D3 0.951
MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 0.935
LRIG2 leucine-rich repeats and immunoglobulin-like domains 2 0.935
UCK1 uridine-cytidine kinase 1 0.923
RAPGEF1 Rap guanine nucleotide exchange factor (GEF) 1 0.923
POMT1 protein-O-mannosyltransferase 1 0.923
PRRT1B proline rich transmembrane protein 1B 0.923
LTO1 LTO1 maturation factor of ABCE1 0.865
CDK5RAP1 CDK5 regulatory subunit associated protein 1 0.8
SNTA1 syntrophin, alpha 1 0.8
CBFA2T2 core-binding factor, runt domain, alpha subunit 2; translocated to, 2 0.8
DUSP22 dual specificity phosphatase 22 0.777
IRF4 interferon regulatory factor 4 0.777
EXOC2 exocyst complex component 2 0.777
LEKR1 leucine, glutamate and lysine rich 1 0.764
TIPARP TCDD-inducible poly(ADP-ribose) polymerase 0.764
ZFP36L1 ZFP36 ring finger protein-like 1 0.732
RAD51B RAD51 paralog B 0.732
TMCC2 transmembrane and coiled-coil domain family 2 0.563
DSTYK dual serine/threonine and tyrosine protein kinase 0.563
NUAK2 NUAK family, SNF1-like kinase, 2 0.563
RBBP5 retinoblastoma binding protein 5 0.563
HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2 0.562
MPHOSPH6 M-phase phosphoprotein 6 0.562
ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12 0.554
TLCD5 TLC domain containing 5 0.554
OAF OAF homolog (Drosophila) 0.554
POU2F3 POU class 2 homeobox 3 0.554
FOXQ1 forkhead box Q1 0.513
PSMB9 proteasome (prosome, macropain) subunit, beta type, 9 0.507
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8 0.507
HLA-DQA2 major histocompatibility complex, class II, DQ alpha 2 0.507
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 0.507
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 0.507
HLA-DOB major histocompatibility complex, class II, DO beta 0.507
HLA-DQB2 major histocompatibility complex, class II, DQ beta 2 0.507
CDCA7L cell division cycle associated 7-like 0.501
RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5 0.501