| Dataset | HPO Gene-Disease 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://compbio.charite.de/hpoweb/showterm?id=HP:0002861 |
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31 genes associated with the melanoma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| AKT1 | v-akt murine thymoma viral oncogene homolog 1 |
| BAP1 | BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) |
| BRAF | B-Raf proto-oncogene, serine/threonine kinase |
| CDK4 | cyclin-dependent kinase 4 |
| CDKN2A | cyclin-dependent kinase inhibitor 2A |
| CDKN2B | cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) |
| CDKN2D | cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) |
| CHEK2 | checkpoint kinase 2 |
| CTSC | cathepsin C |
| DDB2 | damage-specific DNA binding protein 2, 48kDa |
| ERCC3 | excision repair cross-complementation group 3 |
| KLLN | killin, p53-regulated DNA replication inhibitor |
| MBTPS2 | membrane-bound transcription factor peptidase, site 2 |
| MC1R | melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) |
| MDM2 | MDM2 proto-oncogene, E3 ubiquitin protein ligase |
| MITF | microphthalmia-associated transcription factor |
| NRAS | neuroblastoma RAS viral (v-ras) oncogene homolog |
| OCA2 | oculocutaneous albinism II |
| PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
| POLH | polymerase (DNA directed), eta |
| POT1 | protection of telomeres 1 |
| PTEN | phosphatase and tensin homolog |
| PTPN11 | protein tyrosine phosphatase, non-receptor type 11 |
| RAF1 | Raf-1 proto-oncogene, serine/threonine kinase |
| SDHB | succinate dehydrogenase complex, subunit B, iron sulfur (Ip) |
| SDHC | succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa |
| SDHD | succinate dehydrogenase complex, subunit D, integral membrane protein |
| TERT | telomerase reverse transcriptase |
| TP53 | tumor protein p53 |
| TRPV3 | transient receptor potential cation channel, subfamily V, member 3 |
| XPC | xeroderma pigmentosum, complementation group C |
