| Dataset | DISEASES Experimental Gene-Disease Association Evidence Scores |
| 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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28 genes associated with the disease melanoma in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
| Symbol | Name | Standardized Value |
|---|---|---|
| CDK10 | cyclin-dependent kinase 10 | 1.63542 |
| DBNDD1 | dysbindin (dystrobrevin binding protein 1) domain containing 1 | 1.44647 |
| SPATA33 | spermatogenesis associated 33 | 1.17894 |
| PIGU | phosphatidylinositol glycan anchor biosynthesis, class U | 1.09588 |
| MTAP | methylthioadenosine phosphorylase | 1.06123 |
| TYR | tyrosinase | 0.945428 |
| FTO | fat mass and obesity associated | 0.850113 |
| ARNT | aryl hydrocarbon receptor nuclear translocator | 0.728541 |
| ALS2CR12 | amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 | 0.63666 |
| CENPBD1 | CENPB DNA-binding domains containing 1 | 0.63207 |
| MX2 | MX dynamin-like GTPase 2 | 0.58494 |
| ATM | ATM serine/threonine kinase | 0.58494 |
| NCOA6 | nuclear receptor coactivator 6 | 0.52461 |
| CLPTM1L | CLPTM1-like | 0.464771 |
| PARP1 | poly (ADP-ribose) polymerase 1 | 0.408752 |
| SGK1 | serum/glucocorticoid regulated kinase 1 | 0.403461 |
| SLC45A2 | solute carrier family 45, member 2 | 0.368757 |
| MYH7B | myosin, heavy chain 7B, cardiac muscle, beta | 0.368757 |
| ANKRD11 | ankyrin repeat domain 11 | 0.345945 |
| ZNF276 | zinc finger protein 276 | 0.256228 |
| FANCA | Fanconi anemia, complementation group A | 0.256228 |
| DPEP1 | dipeptidase 1 (renal) | 0.197766 |
| BPIFB1 | BPI fold containing family B, member 1 | 0.197766 |
| ANXA9 | annexin A9 | 0.197766 |
| PLA2G6 | phospholipase A2, group VI (cytosolic, calcium-independent) | 0.197766 |
| CNBD2 | cyclic nucleotide binding domain containing 2 | 0.15771 |
| BPIFA3 | BPI fold containing family A, member 3 | 0.126165 |
| CPNE7 | copine VII | 0.080593 |
