Melanoma Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from melanocytes which are found in skin, the bowel and the eye. (Human Disease Ontology, DOID_1909)
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Genes

308 genes associated with the Melanoma phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCB5 ATP-binding cassette, sub-family B (MDR/TAP), member 5
ACO1 aconitase 1, soluble
ADAM6 ADAM metallopeptidase domain 6 (pseudogene)
ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20
AIRE autoimmune regulator
ANKK1 ankyrin repeat and kinase domain containing 1
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
ARHGEF10L Rho guanine nucleotide exchange factor (GEF) 10-like
ARL11 ADP-ribosylation factor-like 11
ARNT aryl hydrocarbon receptor nuclear translocator
ASIP agouti signaling protein
ATM ATM serine/threonine kinase
ATRN attractin
AURKA aurora kinase A
BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
BAX BCL2-associated X protein
BCCIP BRCA2 and CDKN1A interacting protein
BCL2 B-cell CLL/lymphoma 2
BCL2L12 BCL2-like 12 (proline rich)
BDH1 3-hydroxybutyrate dehydrogenase, type 1
BMP4 bone morphogenetic protein 4
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
C1QTNF6 C1q and tumor necrosis factor related protein 6
CADM2 cell adhesion molecule 2
CASP10 caspase 10, apoptosis-related cysteine peptidase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CAT catalase
CCND1 cyclin D1
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CCR7 chemokine (C-C motif) receptor 7
CD28 CD28 molecule
CD86 CD86 molecule
CDK10 cyclin-dependent kinase 10
CDK4 cyclin-dependent kinase 4
CDK6 cyclin-dependent kinase 6
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2B-AS1 CDKN2B antisense RNA 1
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CHEK2 checkpoint kinase 2
CLPTM1 cleft lip and palate associated transmembrane protein 1
CLPTM1L CLPTM1-like
CNTNAP5 contactin associated protein-like 5
COL18A1 collagen, type XVIII, alpha 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCL12 chemokine (C-X-C motif) ligand 12
CXCL8 chemokine (C-X-C motif) ligand 8
CXCR3 chemokine (C-X-C motif) receptor 3
CXCR4 chemokine (C-X-C motif) receptor 4
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
DDB1 damage-specific DNA binding protein 1, 127kDa
DDIT3 DNA-damage-inducible transcript 3
DLGAP1 discs, large (Drosophila) homolog-associated protein 1
DRD2 dopamine receptor D2
DUSP14 dual specificity phosphatase 14
ECHS1 enoyl CoA hydratase, short chain, 1, mitochondrial
EDNRB endothelin receptor type B
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EIF1AX eukaryotic translation initiation factor 1A, X-linked
ERBB4 erb-b2 receptor tyrosine kinase 4
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ESR1 estrogen receptor 1
ETV5 ets variant 5
EXO1 exonuclease 1
EXOC2 exocyst complex component 2
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FBRSL1 fibrosin-like 1
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
FGFR2 fibroblast growth factor receptor 2
FGFR4 fibroblast growth factor receptor 4
FLT1 fms-related tyrosine kinase 1
FTO fat mass and obesity associated
GC group-specific component (vitamin D binding protein)
GDNF glial cell derived neurotrophic factor
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GPX1 glutathione peroxidase 1
GRM1 glutamate receptor, metabotropic 1
GSTM1 glutathione S-transferase mu 1
GSTM3 glutathione S-transferase mu 3 (brain)
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
HAL histidine ammonia-lyase
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-C major histocompatibility complex, class I, C
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMOX1 heme oxygenase 1
HPS1 Hermansky-Pudlak syndrome 1
HRAS Harvey rat sarcoma viral oncogene homolog
HRH2 histamine receptor H2
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
ICAM1 intercellular adhesion molecule 1
ICOS inducible T-cell co-stimulator
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IFNA1 interferon, alpha 1
IFNA10 interferon, alpha 10
IFNA14 interferon, alpha 14
IFNA16 interferon, alpha 16
IFNA17 interferon, alpha 17
IFNA2 interferon, alpha 2
IFNA21 interferon, alpha 21
IFNA5 interferon, alpha 5
IFNA6 interferon, alpha 6
IFNA8 interferon, alpha 8
IFNB1 interferon, beta 1, fibroblast
IFNE interferon, epsilon
IFNG interferon, gamma
IFNK interferon, kappa
IFNW1 interferon, omega 1
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF2 insulin-like growth factor 2
IL10 interleukin 10
IL12A interleukin 12A
IL12B interleukin 12B
IL1B interleukin 1, beta
IL2 interleukin 2
IL2RA interleukin 2 receptor, alpha
IL4 interleukin 4
IL4R interleukin 4 receptor
IL6 interleukin 6
IL6R interleukin 6 receptor
IRF4 interferon regulatory factor 4
IRF5 interferon regulatory factor 5
IRS4 insulin receptor substrate 4
ITGA10 integrin, alpha 10
ITGA11 integrin, alpha 11
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)
ITGA6 integrin, alpha 6
ITGA7 integrin, alpha 7
ITGA9 integrin, alpha 9
ITGAE integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)
ITGAL integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
ITGAX integrin, alpha X (complement component 3 receptor 4 subunit)
ITGB4 integrin, beta 4
ITGB5 integrin, beta 5
KIR2DL1 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1
KIR2DL2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2
KIR2DL3 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3
KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLC1 kinesin light chain 1
KLF14 Kruppel-like factor 14
KLHL9 kelch-like family member 9
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT5 keratin 5, type II
LIG3 ligase III, DNA, ATP-dependent
LIG4 ligase IV, DNA, ATP-dependent
LPP LIM domain containing preferred translocation partner in lipoma
LRRK2 leucine-rich repeat kinase 2
LTA lymphotoxin alpha
MAFF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F
MAGEA1 melanoma antigen family A1
MAGEA4 melanoma antigen family A4
MAGEC1 melanoma antigen family C1
MAGEC2 melanoma antigen family C2
MAGEE1 melanoma antigen family E1
MAP2K2 mitogen-activated protein kinase kinase 2
MAP2K5 mitogen-activated protein kinase kinase 5
MBS1 Moebius syndrome 1
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MDM4 MDM4, p53 regulator
MET MET proto-oncogene, receptor tyrosine kinase
MGMT O-6-methylguanine-DNA methyltransferase
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
MIR146A microRNA 146a
MIR34A microRNA 34a
MITF microphthalmia-associated transcription factor
MLANA melan-A
MLH1 mutL homolog 1
MMP1 matrix metallopeptidase 1
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MMP8 matrix metallopeptidase 8
MMP9 matrix metallopeptidase 9
MSH2 mutS homolog 2
MTAP methylthioadenosine phosphorylase
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MUTYH mutY homolog
MX2 MX dynamin-like GTPase 2
MYH7B myosin, heavy chain 7B, cardiac muscle, beta
MYO5A myosin VA (heavy chain 12, myoxin)
MYO7A myosin VIIA
NADSYN1 NAD synthetase 1
NBN nibrin
NCOA6 nuclear receptor coactivator 6
NEGR1 neuronal growth regulator 1
NF1 neurofibromin 1
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NID1 nidogen 1
NLRP1 NLR family, pyrin domain containing 1
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NOTCH1 notch 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NUDT3 nudix (nucleoside diphosphate linked moiety X)-type motif 3
OA1 Osteoarthritis QTL 1
OCA2 oculocutaneous albinism II
OGG1 8-oxoguanine DNA glycosylase
OPRL1 opiate receptor-like 1
PADI4 peptidyl arginine deiminase, type IV
PADI6 peptidyl arginine deiminase, type VI
PALB2 partner and localizer of BRCA2
PAOD1 Peripheral arterial occlusive disease 1
PARP1 poly (ADP-ribose) polymerase 1
PAX3 paired box 3
PDGFD platelet derived growth factor D
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PHB prohibitin
PIGG phosphatidylinositol glycan anchor biosynthesis, class G
PIGU phosphatidylinositol glycan anchor biosynthesis, class U
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PIK3R4 phosphoinositide-3-kinase, regulatory subunit 4
PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLAA phospholipase A2-activating protein
PMEL premelanosome protein
POC5 POC5 centriolar protein
POLH polymerase (DNA directed), eta
POMC proopiomelanocortin
POT1 protection of telomeres 1
PPARG peroxisome proliferator-activated receptor gamma
PPP1R13B protein phosphatase 1, regulatory subunit 13B
PSMB9 proteasome (prosome, macropain) subunit, beta type, 9
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTK2B protein tyrosine kinase 2 beta
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAD23A RAD23 homolog A (S. cerevisiae)
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RCC2 regulator of chromosome condensation 2
RECQL4 RecQ protein-like 4
RERE arginine-glutamic acid dipeptide (RE) repeats
RET ret proto-oncogene
RFC1 replication factor C (activator 1) 1, 145kDa
RHOU ras homolog family member U
RMI1 RecQ mediated genome instability 1
RNASEL ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)
RTEL1 regulator of telomere elongation helicase 1
RUNX2 runt-related transcription factor 2
SETDB1 SET domain, bifurcated 1
SF3B1 splicing factor 3b, subunit 1, 155kDa
SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLC45A2 solute carrier family 45, member 2
SOX10 SRY (sex determining region Y)-box 10
STX17 syntaxin 17
TERF1 telomeric repeat binding factor (NIMA-interacting) 1
TERF2 telomeric repeat binding factor 2
TERF2IP telomeric repeat binding factor 2, interacting protein
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TGFB1 transforming growth factor, beta 1
TIMP2 TIMP metallopeptidase inhibitor 2
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TLR2 toll-like receptor 2
TLR3 toll-like receptor 3
TLR4 toll-like receptor 4
TLR5 toll-like receptor 5
TLR7 toll-like receptor 7
TLR8 toll-like receptor 8
TNF tumor necrosis factor
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNKS2 tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2
TP53 tumor protein p53
TRPM2 transient receptor potential cation channel, subfamily M, member 2
TUSC1 tumor suppressor candidate 1
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
UBASH3A ubiquitin associated and SH3 domain containing A
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VPS13B vacuolar protein sorting 13 homolog B (yeast)
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3
ZFYVE21 zinc finger, FYVE domain containing 21