melanoma Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0002861
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Genes

61 genes associated with the melanoma phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
CDK10 cyclin-dependent kinase 10 2.14826
MYH7B myosin, heavy chain 7B, cardiac muscle, beta 1.75058
PIGU phosphatidylinositol glycan anchor biosynthesis, class U 1.75033
TYR tyrosinase 1.67051
FTO fat mass and obesity associated 1.53327
NCOA6 nuclear receptor coactivator 6 1.47227
SPATA33 spermatogenesis associated 33 1.4429
DEF8 differentially expressed in FDCP 8 homolog (mouse) 1.43453
BPIFA3 BPI fold containing family A, member 3 1.39815
AFG3L1P AFG3-like AAA ATPase 1, pseudogene 1.38455
ALS2CR12 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 1.35901
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) 1.32793
MX2 MX dynamin-like GTPase 2 1.30781
ATM ATM serine/threonine kinase 1.30781
CASP8 caspase 8, apoptosis-related cysteine peptidase 1.30315
MTAP methylthioadenosine phosphorylase 1.26545
MGMT O-6-methylguanine-DNA methyltransferase 1.24751
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 1.20661
CLPTM1L CLPTM1-like 1.19958
DBNDD1 dysbindin (dystrobrevin binding protein 1) domain containing 1 1.16681
CDK5RAP1 CDK5 regulatory subunit associated protein 1 1.16299
PARP1 poly (ADP-ribose) polymerase 1 1.15743
PHF20 PHD finger protein 20 1.1348
SLC45A2 solute carrier family 45, member 2 1.12851
ANKRD11 ankyrin repeat domain 11 1.10754
ZNF276 zinc finger protein 276 1.02247
DPEP1 dipeptidase 1 (renal) 1.01883
FANCA Fanconi anemia, complementation group A 1.01337
ANXA9 annexin A9 1.00059
CSMD1 CUB and Sushi multiple domains 1 0.909246
CPNE7 copine VII 0.90398
RALY RALY heterogeneous nuclear ribonucleoprotein 0.85521
PRMT8 protein arginine methyltransferase 8 0.818279
COTL1 coactosin-like F-actin binding protein 1 0.812214
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box) 0.787244
DOCK8 dedicator of cytokinesis 8 0.777194
SAFB2 scaffold attachment factor B2 0.772842
SOX6 SRY (sex determining region Y)-box 6 0.767696
RPS7P5 ribosomal protein S7 pseudogene 5 0.744535
NTN1 netrin 1 0.732349
TOX2 TOX high mobility group box family member 2 0.724872
PPA2 pyrophosphatase (inorganic) 2 0.717942
PARD3B par-3 family cell polarity regulator beta 0.714661
DNAH9 dynein, axonemal, heavy chain 9 0.696351
PTPRG protein tyrosine phosphatase, receptor type, G 0.693745
ZFAT zinc finger and AT hook domain containing 0.693425
ELMO1 engulfment and cell motility 1 0.693105
E2F1 E2F transcription factor 1 0.689964
ERO1L ERO1-like (S. cerevisiae) 0.682247
ITPR3 inositol 1,4,5-trisphosphate receptor, type 3 0.681679
TNFRSF19 tumor necrosis factor receptor superfamily, member 19 0.671914
GRM7 glutamate receptor, metabotropic 7 0.671341
KIF16B kinesin family member 16B 0.629837
HDAC4 histone deacetylase 4 0.628153
PCDH15 protocadherin-related 15 0.623659
KCNK2 potassium channel, two pore domain subfamily K, member 2 0.610315
LST1 leukocyte specific transcript 1 0.606913
ALDH9A1 aldehyde dehydrogenase 9 family, member A1 0.59159
CLEC4M C-type lectin domain family 4, member M 0.581031
STK4 serine/threonine kinase 4 0.579744
KIFC3 kinesin family member C3 0.573685