{
  "url": "https://dantelabs.com/traits/melanoma",
  "trait": {
    "bundleId": "2026.10.16-c6eea6bf",
    "release": "2026-09-01",
    "slug": "melanoma",
    "id": "HP:0002861",
    "name": "Cancer of skin pigment cells",
    "label": "Melanoma",
    "definition": "The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).",
    "synonyms": [
      "Skin cancer (melanoma)",
      "Malignant melanoma"
    ],
    "systems": [
      {
        "slug": "neoplasm",
        "name": "Abnormal tissue mass",
        "url": "https://dantelabs.com/traits/neoplasm"
      }
    ],
    "broader": [
      {
        "slug": "neoplasm-by-histology",
        "name": "Neoplasm by histology",
        "url": "https://dantelabs.com/traits/neoplasm-by-histology"
      }
    ],
    "narrower": [
      {
        "slug": "cutaneous-melanoma",
        "name": "Cutaneous melanoma",
        "genes": 23,
        "url": "https://dantelabs.com/traits/cutaneous-melanoma"
      },
      {
        "slug": "uveal-melanoma",
        "name": "Uveal melanoma",
        "genes": 4,
        "url": "https://dantelabs.com/traits/uveal-melanoma"
      }
    ],
    "genes": [
      {
        "slug": "acd",
        "symbol": "ACD",
        "hgnc": "HGNC:25070",
        "name": "ACD shelterin complex subunit and telomerase recruitment factor",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acd"
      },
      {
        "slug": "bap1",
        "symbol": "BAP1",
        "hgnc": "HGNC:950",
        "name": "BRCA1 associated deubiquitinase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bap1"
      },
      {
        "slug": "cdk4",
        "symbol": "CDK4",
        "hgnc": "HGNC:1773",
        "name": "cyclin dependent kinase 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdk4"
      },
      {
        "slug": "cdkn2a",
        "symbol": "CDKN2A",
        "hgnc": "HGNC:1787",
        "name": "cyclin dependent kinase inhibitor 2A",
        "frequency": "very-frequent",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/cdkn2a"
      },
      {
        "slug": "cdkn2b",
        "symbol": "CDKN2B",
        "hgnc": "HGNC:1788",
        "name": "cyclin dependent kinase inhibitor 2B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdkn2b"
      },
      {
        "slug": "mc1r",
        "symbol": "MC1R",
        "hgnc": "HGNC:6929",
        "name": "melanocortin 1 receptor",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mc1r"
      },
      {
        "slug": "mgmt",
        "symbol": "MGMT",
        "hgnc": "HGNC:7059",
        "name": "O-6-methylguanine-DNA methyltransferase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mgmt"
      },
      {
        "slug": "mitf",
        "symbol": "MITF",
        "hgnc": "HGNC:7105",
        "name": "melanocyte inducing transcription factor",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mitf"
      },
      {
        "slug": "pot1",
        "symbol": "POT1",
        "hgnc": "HGNC:17284",
        "name": "protection of telomeres 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pot1"
      },
      {
        "slug": "terf2ip",
        "symbol": "TERF2IP",
        "hgnc": "HGNC:19246",
        "name": "TERF2 interacting protein",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/terf2ip"
      },
      {
        "slug": "tert",
        "symbol": "TERT",
        "hgnc": "HGNC:11730",
        "name": "telomerase reverse transcriptase",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tert"
      },
      {
        "slug": "ddb2",
        "symbol": "DDB2",
        "hgnc": "HGNC:2718",
        "name": "damage specific DNA binding protein 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ddb2"
      },
      {
        "slug": "ercc2",
        "symbol": "ERCC2",
        "hgnc": "HGNC:3434",
        "name": "ERCC excision repair 2, TFIIH core complex helicase subunit",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/ercc2"
      },
      {
        "slug": "ercc3",
        "symbol": "ERCC3",
        "hgnc": "HGNC:3435",
        "name": "ERCC excision repair 3, TFIIH core complex helicase subunit",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ercc3"
      },
      {
        "slug": "ercc4",
        "symbol": "ERCC4",
        "hgnc": "HGNC:3436",
        "name": "ERCC excision repair 4, endonuclease catalytic subunit",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ercc4"
      },
      {
        "slug": "ercc5",
        "symbol": "ERCC5",
        "hgnc": "HGNC:3437",
        "name": "ERCC excision repair 5, endonuclease",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ercc5"
      },
      {
        "slug": "polh",
        "symbol": "POLH",
        "hgnc": "HGNC:9181",
        "name": "DNA polymerase eta",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polh"
      },
      {
        "slug": "xpa",
        "symbol": "XPA",
        "hgnc": "HGNC:12814",
        "name": "XPA, DNA damage recognition and repair factor",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/xpa"
      },
      {
        "slug": "xpc",
        "symbol": "XPC",
        "hgnc": "HGNC:12816",
        "name": "XPC complex subunit, DNA damage recognition and repair factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xpc"
      },
      {
        "slug": "aagab",
        "symbol": "AAGAB",
        "hgnc": "HGNC:25662",
        "name": "alpha and gamma adaptin binding protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aagab"
      },
      {
        "slug": "atm",
        "symbol": "ATM",
        "hgnc": "HGNC:795",
        "name": "ATM serine/threonine kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atm"
      },
      {
        "slug": "bard1",
        "symbol": "BARD1",
        "hgnc": "HGNC:952",
        "name": "BRCA1 associated RING domain 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bard1"
      },
      {
        "slug": "braf",
        "symbol": "BRAF",
        "hgnc": "HGNC:1097",
        "name": "B-Raf proto-oncogene, serine/threonine kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/braf"
      },
      {
        "slug": "brca1",
        "symbol": "BRCA1",
        "hgnc": "HGNC:1100",
        "name": "BRCA1 DNA repair associated",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/brca1"
      },
      {
        "slug": "brca2",
        "symbol": "BRCA2",
        "hgnc": "HGNC:1101",
        "name": "BRCA2 DNA repair associated",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/brca2"
      },
      {
        "slug": "brip1",
        "symbol": "BRIP1",
        "hgnc": "HGNC:20473",
        "name": "BRCA1 interacting DNA helicase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/brip1"
      },
      {
        "slug": "chek2",
        "symbol": "CHEK2",
        "hgnc": "HGNC:16627",
        "name": "checkpoint kinase 2",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/chek2"
      },
      {
        "slug": "col14a1",
        "symbol": "COL14A1",
        "hgnc": "HGNC:2191",
        "name": "collagen type XIV alpha 1 chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col14a1"
      },
      {
        "slug": "ctsc",
        "symbol": "CTSC",
        "hgnc": "HGNC:2528",
        "name": "cathepsin C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctsc"
      },
      {
        "slug": "kras",
        "symbol": "KRAS",
        "hgnc": "HGNC:6407",
        "name": "KRas proto-oncogene, GTPase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kras"
      },
      {
        "slug": "mbtps2",
        "symbol": "MBTPS2",
        "hgnc": "HGNC:15455",
        "name": "membrane bound transcription factor peptidase, site 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mbtps2"
      },
      {
        "slug": "mre11",
        "symbol": "MRE11",
        "hgnc": "HGNC:7230",
        "name": "MRE11 double strand break repair nuclease",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mre11"
      },
      {
        "slug": "nbn",
        "symbol": "NBN",
        "hgnc": "HGNC:7652",
        "name": "nibrin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nbn"
      },
      {
        "slug": "palb2",
        "symbol": "PALB2",
        "hgnc": "HGNC:26144",
        "name": "partner and localizer of BRCA2",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/palb2"
      },
      {
        "slug": "palld",
        "symbol": "PALLD",
        "hgnc": "HGNC:17068",
        "name": "palladin, cytoskeletal associated protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/palld"
      },
      {
        "slug": "perp",
        "symbol": "PERP",
        "hgnc": "HGNC:17637",
        "name": "p53 apoptosis effector related to PMP22",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/perp"
      },
      {
        "slug": "pten",
        "symbol": "PTEN",
        "hgnc": "HGNC:9588",
        "name": "phosphatase and tensin homolog",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pten"
      },
      {
        "slug": "ptpn11",
        "symbol": "PTPN11",
        "hgnc": "HGNC:9644",
        "name": "protein tyrosine phosphatase non-receptor type 11",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptpn11"
      },
      {
        "slug": "rabl3",
        "symbol": "RABL3",
        "hgnc": "HGNC:18072",
        "name": "RAB, member of RAS oncogene family like 3",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rabl3"
      },
      {
        "slug": "rad50",
        "symbol": "RAD50",
        "hgnc": "HGNC:9816",
        "name": "RAD50 double strand break repair protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rad50"
      },
      {
        "slug": "rad51",
        "symbol": "RAD51",
        "hgnc": "HGNC:9817",
        "name": "RAD51 recombinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rad51"
      },
      {
        "slug": "rad51c",
        "symbol": "RAD51C",
        "hgnc": "HGNC:9820",
        "name": "RAD51 paralog C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rad51c"
      },
      {
        "slug": "rad51d",
        "symbol": "RAD51D",
        "hgnc": "HGNC:9823",
        "name": "RAD51 paralog D",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rad51d"
      },
      {
        "slug": "raf1",
        "symbol": "RAF1",
        "hgnc": "HGNC:9829",
        "name": "Raf-1 proto-oncogene, serine/threonine kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/raf1"
      },
      {
        "slug": "slc6a17",
        "symbol": "SLC6A17",
        "hgnc": "HGNC:31399",
        "name": "solute carrier family 6 member 17",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc6a17"
      },
      {
        "slug": "smad4",
        "symbol": "SMAD4",
        "hgnc": "HGNC:6770",
        "name": "SMAD family member 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smad4"
      },
      {
        "slug": "tp53",
        "symbol": "TP53",
        "hgnc": "HGNC:11998",
        "name": "tumor protein p53",
        "frequency": "occasional",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/tp53"
      },
      {
        "slug": "trpv3",
        "symbol": "TRPV3",
        "hgnc": "HGNC:18084",
        "name": "transient receptor potential cation channel subfamily V member 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trpv3"
      },
      {
        "slug": "tyms",
        "symbol": "TYMS",
        "hgnc": "HGNC:12441",
        "name": "thymidylate synthetase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tyms"
      },
      {
        "slug": "tyr",
        "symbol": "TYR",
        "hgnc": "HGNC:12442",
        "name": "tyrosinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tyr"
      },
      {
        "slug": "wrn",
        "symbol": "WRN",
        "hgnc": "HGNC:12791",
        "name": "WRN RecQ like helicase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wrn"
      },
      {
        "slug": "anapc1",
        "symbol": "ANAPC1",
        "hgnc": "HGNC:19988",
        "name": "anaphase promoting complex subunit 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/anapc1"
      },
      {
        "slug": "mdm2",
        "symbol": "MDM2",
        "hgnc": "HGNC:6973",
        "name": "MDM2 proto-oncogene",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mdm2"
      },
      {
        "slug": "recql4",
        "symbol": "RECQL4",
        "hgnc": "HGNC:9949",
        "name": "RecQ like helicase 4",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/recql4"
      },
      {
        "slug": "rnf43",
        "symbol": "RNF43",
        "hgnc": "HGNC:18505",
        "name": "ring finger protein 43",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnf43"
      },
      {
        "slug": "ercc6",
        "symbol": "ERCC6",
        "hgnc": "HGNC:3438",
        "name": "ERCC excision repair 6, chromatin remodeling factor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc6"
      },
      {
        "slug": "nras",
        "symbol": "NRAS",
        "hgnc": "HGNC:7989",
        "name": "NRAS proto-oncogene, GTPase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nras"
      }
    ]
  }
}