melanoma Gene Set

Dataset GAD Gene-Disease Associations
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

81 genes associated with the disease melanoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Symbol Name
AIRE autoimmune regulator
ALS2CR12 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12
ANXA9 annexin A9
APAF1 apoptotic peptidase activating factor 1
ASIP agouti signaling protein
ATM ATM serine/threonine kinase
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
CCR2 chemokine (C-C motif) receptor 2
CD28 CD28 molecule
CDA cytidine deaminase
CDK10 cyclin-dependent kinase 10
CDK4 cyclin-dependent kinase 4
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CLPTM1L CLPTM1-like
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CXCL8 chemokine (C-X-C motif) ligand 8
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
EDNRB endothelin receptor type B
EGF epidermal growth factor
EGFR epidermal growth factor receptor
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 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
ICOS inducible T-cell co-stimulator
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IL10 interleukin 10
IL12A interleukin 12A
IL1B interleukin 1, beta
IL2 interleukin 2
IL4 interleukin 4
IL6 interleukin 6
IRF4 interferon regulatory factor 4
KIR2DL2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2
KIR2DL3 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
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
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MGMT O-6-methylguanine-DNA methyltransferase
MLH1 mutL homolog 1
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MSH2 mutS homolog 2
MTAP methylthioadenosine phosphorylase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MX2 MX dynamin-like GTPase 2
NBN nibrin
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OCA2 oculocutaneous albinism II
PARP1 poly (ADP-ribose) polymerase 1
PIGU phosphatidylinositol glycan anchor biosynthesis, class U
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PMEL premelanosome protein
POLH polymerase (DNA directed), eta
POMC proopiomelanocortin
PPARG peroxisome proliferator-activated receptor gamma
SHROOM3 shroom family member 3
SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4
SLC45A2 solute carrier family 45, member 2
TGFB1 transforming growth factor, beta 1
TP53 tumor protein p53
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
XPC xeroderma pigmentosum, complementation group C
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3