{
  "url": "https://dantelabs.com/traits/abnormal-circulating-creatine-concentration",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "abnormal-circulating-creatine-concentration",
    "id": "HP:0012113",
    "name": "Abnormality of creatine metabolism",
    "label": "Abnormal circulating creatine concentration",
    "definition": "Any deviation from the normal concentration of creatine in the blood circulation.",
    "synonyms": [
      "Creatine metabolism abnormal",
      "Abnormal creatine level"
    ],
    "systems": [
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-circulating-organic-compound-concentration",
        "name": "Abnormal circulating organic compound concentration",
        "url": "https://dantelabs.com/traits/abnormal-circulating-organic-compound-concentration"
      }
    ],
    "narrower": [
      {
        "slug": "elevated-circulating-creatine-concentration",
        "name": "Elevated circulating creatine concentration",
        "genes": 2,
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-concentration"
      },
      {
        "slug": "reduced-circulating-creatine-concentration",
        "name": "Reduced circulating creatine concentration",
        "genes": 1,
        "url": "https://dantelabs.com/traits/reduced-circulating-creatine-concentration"
      }
    ],
    "genes": [
      {
        "slug": "slc6a8",
        "symbol": "SLC6A8",
        "hgnc": "HGNC:11055",
        "name": "solute carrier family 6 member 8",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc6a8"
      },
      {
        "slug": "atm",
        "symbol": "ATM",
        "hgnc": "HGNC:795",
        "name": "ATM serine/threonine kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atm"
      },
      {
        "slug": "bmpr1a",
        "symbol": "BMPR1A",
        "hgnc": "HGNC:1076",
        "name": "bone morphogenetic protein receptor type 1A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bmpr1a"
      },
      {
        "slug": "brca2",
        "symbol": "BRCA2",
        "hgnc": "HGNC:1101",
        "name": "BRCA2 DNA repair associated",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/brca2"
      },
      {
        "slug": "chek2",
        "symbol": "CHEK2",
        "hgnc": "HGNC:16627",
        "name": "checkpoint kinase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chek2"
      },
      {
        "slug": "mutyh",
        "symbol": "MUTYH",
        "hgnc": "HGNC:7527",
        "name": "mutY DNA glycosylase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mutyh"
      },
      {
        "slug": "npat",
        "symbol": "NPAT",
        "hgnc": "HGNC:7896",
        "name": "nuclear protein, coactivator of histone transcription",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/npat"
      },
      {
        "slug": "pold1",
        "symbol": "POLD1",
        "hgnc": "HGNC:9175",
        "name": "DNA polymerase delta 1, catalytic subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pold1"
      },
      {
        "slug": "pole",
        "symbol": "POLE",
        "hgnc": "HGNC:9177",
        "name": "DNA polymerase epsilon, catalytic subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pole"
      },
      {
        "slug": "rps20",
        "symbol": "RPS20",
        "hgnc": "HGNC:10405",
        "name": "ribosomal protein S20",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rps20"
      },
      {
        "slug": "sema4a",
        "symbol": "SEMA4A",
        "hgnc": "HGNC:10729",
        "name": "semaphorin 4A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sema4a"
      }
    ]
  }
}