| Dataset | DISEASES Curated 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) |
| Similar Terms | |
| Downloads & Tools |
30 genes involed in the disease Melanoma from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
| Symbol | Name | Standardized Value |
|---|---|---|
| PLA2G6 | phospholipase A2, group VI (cytosolic, calcium-independent) | 5.0 |
| NRAS | neuroblastoma RAS viral (v-ras) oncogene homolog | 5.0 |
| TERT | telomerase reverse transcriptase | 5.0 |
| CASP8 | caspase 8, apoptosis-related cysteine peptidase | 5.0 |
| MITF | microphthalmia-associated transcription factor | 5.0 |
| KITLG | KIT ligand | 5.0 |
| PIGU | phosphatidylinositol glycan anchor biosynthesis, class U | 5.0 |
| ATM | ATM serine/threonine kinase | 5.0 |
| IRF4 | interferon regulatory factor 4 | 5.0 |
| CDK4 | cyclin-dependent kinase 4 | 5.0 |
| SLC45A2 | solute carrier family 45, member 2 | 5.0 |
| MC1R | melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) | 5.0 |
| EGF | epidermal growth factor | 5.0 |
| CDKN2A | cyclin-dependent kinase inhibitor 2A | 5.0 |
| TYRP1 | tyrosinase-related protein 1 | 5.0 |
| MTAP | methylthioadenosine phosphorylase | 5.0 |
| XRCC3 | X-ray repair complementing defective repair in Chinese hamster cells 3 | 5.0 |
| TYR | tyrosinase | 5.0 |
| MYH7B | myosin, heavy chain 7B, cardiac muscle, beta | 5.0 |
| OCA2 | oculocutaneous albinism II | 5.0 |
| HERC2 | HECT and RLD domain containing E3 ubiquitin protein ligase 2 | 5.0 |
| BAP1 | BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) | 5.0 |
| ASIP | agouti signaling protein | 5.0 |
| POT1 | protection of telomeres 1 | 5.0 |
| BRAF | B-Raf proto-oncogene, serine/threonine kinase | 5.0 |
| TP53 | tumor protein p53 | 5.0 |
| TPCN2 | two pore segment channel 2 | 5.0 |
| CDK10 | cyclin-dependent kinase 10 | 5.0 |
| MX2 | MX dynamin-like GTPase 2 | 5.0 |
| SLC2A4 | solute carrier family 2 (facilitated glucose transporter), member 4 | 5.0 |
