{
  "url": "https://dantelabs.com/traits/subcutaneous-nodule",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "subcutaneous-nodule",
    "id": "HP:0001482",
    "name": "Firm lump under the skin",
    "label": "Subcutaneous nodule",
    "definition": "Slightly elevated lesions on or in the skin with a diameter of over 5 mm.",
    "synonyms": [
      "Growth of abnormal tissue under the skin",
      "Nodule below the skin"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-integument",
        "name": "Abnormality of the integument",
        "url": "https://dantelabs.com/traits/abnormality-of-the-integument"
      }
    ],
    "broader": [
      {
        "slug": "skin-nodule",
        "name": "Skin nodule",
        "url": "https://dantelabs.com/traits/skin-nodule"
      }
    ],
    "narrower": [
      {
        "slug": "subcutaneous-spheroids",
        "name": "Subcutaneous spheroids",
        "genes": 3,
        "url": "https://dantelabs.com/traits/subcutaneous-spheroids"
      },
      {
        "slug": "periarticular-subcutaneous-nodules",
        "name": "Periarticular subcutaneous nodules",
        "genes": 2,
        "url": "https://dantelabs.com/traits/periarticular-subcutaneous-nodules"
      }
    ],
    "genes": [
      {
        "slug": "asah1",
        "symbol": "ASAH1",
        "hgnc": "HGNC:735",
        "name": "N-acylsphingosine amidohydrolase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/asah1"
      },
      {
        "slug": "gls",
        "symbol": "GLS",
        "hgnc": "HGNC:4331",
        "name": "glutaminase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gls"
      },
      {
        "slug": "pomp",
        "symbol": "POMP",
        "hgnc": "HGNC:20330",
        "name": "proteasome maturation protein",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomp"
      },
      {
        "slug": "acvr1",
        "symbol": "ACVR1",
        "hgnc": "HGNC:171",
        "name": "activin A receptor type 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acvr1"
      },
      {
        "slug": "akt1",
        "symbol": "AKT1",
        "hgnc": "HGNC:391",
        "name": "AKT serine/threonine kinase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/akt1"
      },
      {
        "slug": "antxr2",
        "symbol": "ANTXR2",
        "hgnc": "HGNC:21732",
        "name": "ANTXR cell adhesion molecule 2",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/antxr2"
      },
      {
        "slug": "apc",
        "symbol": "APC",
        "hgnc": "HGNC:583",
        "name": "APC regulator of Wnt signaling pathway",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/apc"
      },
      {
        "slug": "braf",
        "symbol": "BRAF",
        "hgnc": "HGNC:1097",
        "name": "B-Raf proto-oncogene, serine/threonine kinase",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/braf"
      },
      {
        "slug": "c4a",
        "symbol": "C4A",
        "hgnc": "HGNC:1323",
        "name": "complement C4A (Chido/Rodgers blood group)",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/c4a"
      },
      {
        "slug": "ccr1",
        "symbol": "CCR1",
        "hgnc": "HGNC:1602",
        "name": "C-C motif chemokine receptor 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ccr1"
      },
      {
        "slug": "cdk4",
        "symbol": "CDK4",
        "hgnc": "HGNC:1773",
        "name": "cyclin dependent kinase 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdk4"
      },
      {
        "slug": "col1a1",
        "symbol": "COL1A1",
        "hgnc": "HGNC:2197",
        "name": "collagen type I alpha 1 chain",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col1a1"
      },
      {
        "slug": "ctnnb1",
        "symbol": "CTNNB1",
        "hgnc": "HGNC:2514",
        "name": "catenin beta 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ctnnb1"
      },
      {
        "slug": "cyld",
        "symbol": "CYLD",
        "hgnc": "HGNC:2584",
        "name": "CYLD lysine 63 deubiquitinase",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cyld"
      },
      {
        "slug": "ddit3",
        "symbol": "DDIT3",
        "hgnc": "HGNC:2726",
        "name": "DNA damage inducible transcript 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ddit3"
      },
      {
        "slug": "ecm1",
        "symbol": "ECM1",
        "hgnc": "HGNC:3153",
        "name": "extracellular matrix protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ecm1"
      },
      {
        "slug": "erap1",
        "symbol": "ERAP1",
        "hgnc": "HGNC:18173",
        "name": "endoplasmic reticulum aminopeptidase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/erap1"
      },
      {
        "slug": "fas",
        "symbol": "FAS",
        "hgnc": "HGNC:11920",
        "name": "Fas cell surface death receptor",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fas"
      },
      {
        "slug": "fgfr1",
        "symbol": "FGFR1",
        "hgnc": "HGNC:3688",
        "name": "fibroblast growth factor receptor 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr1"
      },
      {
        "slug": "fgfr2",
        "symbol": "FGFR2",
        "hgnc": "HGNC:3689",
        "name": "fibroblast growth factor receptor 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr2"
      },
      {
        "slug": "fus",
        "symbol": "FUS",
        "hgnc": "HGNC:4010",
        "name": "FUS RNA binding protein",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fus"
      },
      {
        "slug": "gla",
        "symbol": "GLA",
        "hgnc": "HGNC:4296",
        "name": "galactosidase alpha",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gla"
      },
      {
        "slug": "gnas",
        "symbol": "GNAS",
        "hgnc": "HGNC:4392",
        "name": "GNAS complex locus",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnas"
      },
      {
        "slug": "hla-b",
        "symbol": "HLA-B",
        "hgnc": "HGNC:4932",
        "name": "major histocompatibility complex, class I, B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hla-b"
      },
      {
        "slug": "hmga2",
        "symbol": "HMGA2",
        "hgnc": "HGNC:5009",
        "name": "high mobility group AT-hook 2",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hmga2"
      },
      {
        "slug": "ifngr1",
        "symbol": "IFNGR1",
        "hgnc": "HGNC:5439",
        "name": "interferon gamma receptor 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ifngr1"
      },
      {
        "slug": "il10",
        "symbol": "IL10",
        "hgnc": "HGNC:5962",
        "name": "interleukin 10",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/il10"
      },
      {
        "slug": "il12a",
        "symbol": "IL12A",
        "hgnc": "HGNC:5969",
        "name": "interleukin 12A",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/il12a"
      },
      {
        "slug": "il12a-as1",
        "symbol": "IL12A-AS1",
        "hgnc": "HGNC:49094",
        "name": "IL12A antisense RNA 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/il12a-as1"
      },
      {
        "slug": "il23r",
        "symbol": "IL23R",
        "hgnc": "HGNC:19100",
        "name": "interleukin 23 receptor",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/il23r"
      },
      {
        "slug": "insr",
        "symbol": "INSR",
        "hgnc": "HGNC:6091",
        "name": "insulin receptor",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/insr"
      },
      {
        "slug": "klrc4",
        "symbol": "KLRC4",
        "hgnc": "HGNC:6377",
        "name": "killer cell lectin like receptor C4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/klrc4"
      },
      {
        "slug": "kras",
        "symbol": "KRAS",
        "hgnc": "HGNC:6407",
        "name": "KRas proto-oncogene, GTPase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kras"
      },
      {
        "slug": "lss",
        "symbol": "LSS",
        "hgnc": "HGNC:6708",
        "name": "lanosterol synthase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lss"
      },
      {
        "slug": "mdm2",
        "symbol": "MDM2",
        "hgnc": "HGNC:6973",
        "name": "MDM2 proto-oncogene",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mdm2"
      },
      {
        "slug": "mefv",
        "symbol": "MEFV",
        "hgnc": "HGNC:6998",
        "name": "MEFV innate immunity regulator, pyrin",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mefv"
      },
      {
        "slug": "naga",
        "symbol": "NAGA",
        "hgnc": "HGNC:7631",
        "name": "alpha-N-acetylgalactosaminidase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/naga"
      },
      {
        "slug": "notch3",
        "symbol": "NOTCH3",
        "hgnc": "HGNC:7883",
        "name": "notch receptor 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch3"
      },
      {
        "slug": "pdgfb",
        "symbol": "PDGFB",
        "hgnc": "HGNC:8800",
        "name": "platelet derived growth factor subunit B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdgfb"
      },
      {
        "slug": "pdgfrb",
        "symbol": "PDGFRB",
        "hgnc": "HGNC:8804",
        "name": "platelet derived growth factor receptor beta",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdgfrb"
      },
      {
        "slug": "pten",
        "symbol": "PTEN",
        "hgnc": "HGNC:9588",
        "name": "phosphatase and tensin homolog",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/pten"
      },
      {
        "slug": "stat4",
        "symbol": "STAT4",
        "hgnc": "HGNC:11365",
        "name": "signal transducer and activator of transcription 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stat4"
      },
      {
        "slug": "tlr4",
        "symbol": "TLR4",
        "hgnc": "HGNC:11850",
        "name": "toll like receptor 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tlr4"
      },
      {
        "slug": "ubac2",
        "symbol": "UBAC2",
        "hgnc": "HGNC:20486",
        "name": "UBA domain containing 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ubac2"
      },
      {
        "slug": "b2m",
        "symbol": "B2M",
        "hgnc": "HGNC:914",
        "name": "beta-2-microglobulin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b2m"
      },
      {
        "slug": "dact1",
        "symbol": "DACT1",
        "hgnc": "HGNC:17748",
        "name": "dishevelled binding antagonist of beta catenin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dact1"
      },
      {
        "slug": "idh1",
        "symbol": "IDH1",
        "hgnc": "HGNC:5382",
        "name": "isocitrate dehydrogenase (NADP(+)) 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/idh1"
      },
      {
        "slug": "idh2",
        "symbol": "IDH2",
        "hgnc": "HGNC:5383",
        "name": "isocitrate dehydrogenase (NADP(+)) 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/idh2"
      },
      {
        "slug": "mmp14",
        "symbol": "MMP14",
        "hgnc": "HGNC:7160",
        "name": "matrix metallopeptidase 14",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmp14"
      },
      {
        "slug": "mmp2",
        "symbol": "MMP2",
        "hgnc": "HGNC:7166",
        "name": "matrix metallopeptidase 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mmp2"
      },
      {
        "slug": "porcn",
        "symbol": "PORCN",
        "hgnc": "HGNC:17652",
        "name": "porcupine O-acyltransferase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/porcn"
      },
      {
        "slug": "pth1r",
        "symbol": "PTH1R",
        "hgnc": "HGNC:9608",
        "name": "parathyroid hormone 1 receptor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pth1r"
      },
      {
        "slug": "sall1",
        "symbol": "SALL1",
        "hgnc": "HGNC:10524",
        "name": "spalt like transcription factor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sall1"
      },
      {
        "slug": "tek",
        "symbol": "TEK",
        "hgnc": "HGNC:11724",
        "name": "TEK receptor tyrosine kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tek"
      },
      {
        "slug": "abcc6",
        "symbol": "ABCC6",
        "hgnc": "HGNC:57",
        "name": "ATP binding cassette subfamily C member 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abcc6"
      },
      {
        "slug": "alk",
        "symbol": "ALK",
        "hgnc": "HGNC:427",
        "name": "ALK receptor tyrosine kinase",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/alk"
      },
      {
        "slug": "btnl2",
        "symbol": "BTNL2",
        "hgnc": "HGNC:1142",
        "name": "butyrophilin like 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/btnl2"
      },
      {
        "slug": "col7a1",
        "symbol": "COL7A1",
        "hgnc": "HGNC:2214",
        "name": "collagen type VII alpha 1 chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col7a1"
      },
      {
        "slug": "enpp1",
        "symbol": "ENPP1",
        "hgnc": "HGNC:3356",
        "name": "ectonucleotide pyrophosphatase/phosphodiesterase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/enpp1"
      },
      {
        "slug": "fbn1",
        "symbol": "FBN1",
        "hgnc": "HGNC:3603",
        "name": "fibrillin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbn1"
      },
      {
        "slug": "hace1",
        "symbol": "HACE1",
        "hgnc": "HGNC:21033",
        "name": "HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hace1"
      },
      {
        "slug": "hla-drb1",
        "symbol": "HLA-DRB1",
        "hgnc": "HGNC:4948",
        "name": "major histocompatibility complex, class II, DR beta 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hla-drb1"
      },
      {
        "slug": "kif11",
        "symbol": "KIF11",
        "hgnc": "HGNC:6388",
        "name": "kinesin family member 11",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif11"
      },
      {
        "slug": "lemd3",
        "symbol": "LEMD3",
        "hgnc": "HGNC:28887",
        "name": "LEM domain containing 3",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/lemd3"
      },
      {
        "slug": "lin28b",
        "symbol": "LIN28B",
        "hgnc": "HGNC:32207",
        "name": "lin-28 RNA binding posttranscriptional regulator B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lin28b"
      },
      {
        "slug": "lmo1",
        "symbol": "LMO1",
        "hgnc": "HGNC:6641",
        "name": "LIM domain only 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lmo1"
      },
      {
        "slug": "mycn",
        "symbol": "MYCN",
        "hgnc": "HGNC:7559",
        "name": "MYCN proto-oncogene, bHLH transcription factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mycn"
      },
      {
        "slug": "mysm1",
        "symbol": "MYSM1",
        "hgnc": "HGNC:29401",
        "name": "Myb like, SWIRM and MPN domains 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mysm1"
      },
      {
        "slug": "nras",
        "symbol": "NRAS",
        "hgnc": "HGNC:7989",
        "name": "NRAS proto-oncogene, GTPase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nras"
      },
      {
        "slug": "phox2b",
        "symbol": "PHOX2B",
        "hgnc": "HGNC:9143",
        "name": "paired like homeobox 2B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phox2b"
      },
      {
        "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": "raf1",
        "symbol": "RAF1",
        "hgnc": "HGNC:9829",
        "name": "Raf-1 proto-oncogene, serine/threonine kinase",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/raf1"
      },
      {
        "slug": "sox5",
        "symbol": "SOX5",
        "hgnc": "HGNC:11201",
        "name": "SRY-box transcription factor 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sox5"
      },
      {
        "slug": "tnfrsf11a",
        "symbol": "TNFRSF11A",
        "hgnc": "HGNC:11908",
        "name": "TNF receptor superfamily member 11a",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnfrsf11a"
      },
      {
        "slug": "tnfrsf11b",
        "symbol": "TNFRSF11B",
        "hgnc": "HGNC:11909",
        "name": "TNF receptor superfamily member 11b",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnfrsf11b"
      },
      {
        "slug": "zeb2",
        "symbol": "ZEB2",
        "hgnc": "HGNC:14881",
        "name": "zinc finger E-box binding homeobox 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zeb2"
      },
      {
        "slug": "fermt3",
        "symbol": "FERMT3",
        "hgnc": "HGNC:23151",
        "name": "FERM domain containing kindlin 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fermt3"
      },
      {
        "slug": "ifng",
        "symbol": "IFNG",
        "hgnc": "HGNC:5438",
        "name": "interferon gamma",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ifng"
      },
      {
        "slug": "ocrl",
        "symbol": "OCRL",
        "hgnc": "HGNC:8108",
        "name": "OCRL inositol polyphosphate-5-phosphatase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ocrl"
      },
      {
        "slug": "tsc1",
        "symbol": "TSC1",
        "hgnc": "HGNC:12362",
        "name": "TSC complex subunit 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tsc1"
      },
      {
        "slug": "tsc2",
        "symbol": "TSC2",
        "hgnc": "HGNC:12363",
        "name": "TSC complex subunit 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tsc2"
      }
    ]
  }
}