{
  "url": "https://dantelabs.com/traits/abnormal-circulating-creatine-kinase-activity",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "abnormal-circulating-creatine-kinase-activity",
    "id": "HP:0040081",
    "name": "Abnormal levels of creatine kinase in blood",
    "label": "Abnormal circulating creatine kinase activity",
    "definition": "Any deviation from the normal activity of creatine kinase in the blood circulation.",
    "synonyms": [
      "Abnormal circulating CK concentration",
      "Abnormal circulating CPK concentration",
      "Abnormal circulation phospho-CK concentration",
      "Abnormal creatine kinase level"
    ],
    "systems": [
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-circulating-enzyme-concentration",
        "name": "Abnormal circulating enzyme concentration",
        "url": "https://dantelabs.com/traits/abnormal-circulating-enzyme-concentration"
      }
    ],
    "narrower": [
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "genes": 286,
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "elevated-circulating-ck-mb-concentration",
        "name": "Elevated circulating CK-MB concentration",
        "genes": 6,
        "url": "https://dantelabs.com/traits/elevated-circulating-ck-mb-concentration"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-mm-isoform-concentration",
        "name": "Elevated circulating creatine kinase MM isoform concentration",
        "genes": 1,
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-mm-isoform-concentration"
      }
    ],
    "genes": [
      {
        "slug": "megf10",
        "symbol": "MEGF10",
        "hgnc": "HGNC:29634",
        "name": "multiple EGF like domains 10",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/megf10"
      },
      {
        "slug": "notch3",
        "symbol": "NOTCH3",
        "hgnc": "HGNC:7883",
        "name": "notch receptor 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch3"
      },
      {
        "slug": "b3galnt2",
        "symbol": "B3GALNT2",
        "hgnc": "HGNC:28596",
        "name": "beta-1,3-N-acetylgalactosaminyltransferase 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b3galnt2"
      },
      {
        "slug": "b4gat1",
        "symbol": "B4GAT1",
        "hgnc": "HGNC:15685",
        "name": "beta-1,4-glucuronyltransferase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b4gat1"
      },
      {
        "slug": "col4a1",
        "symbol": "COL4A1",
        "hgnc": "HGNC:2202",
        "name": "collagen type IV alpha 1 chain",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col4a1"
      },
      {
        "slug": "crppa",
        "symbol": "CRPPA",
        "hgnc": "HGNC:37276",
        "name": "CDP-L-ribitol pyrophosphorylase A",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/crppa"
      },
      {
        "slug": "dag1",
        "symbol": "DAG1",
        "hgnc": "HGNC:2666",
        "name": "dystroglycan 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dag1"
      },
      {
        "slug": "dysf",
        "symbol": "DYSF",
        "hgnc": "HGNC:3097",
        "name": "dysferlin",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dysf"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "hgnc": "HGNC:17997",
        "name": "fukutin related protein",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fkrp"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "hgnc": "HGNC:3622",
        "name": "fukutin",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fktn"
      },
      {
        "slug": "large1",
        "symbol": "LARGE1",
        "hgnc": "HGNC:6511",
        "name": "LARGE xylosyl- and glucuronyltransferase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/large1"
      },
      {
        "slug": "pomgnt1",
        "symbol": "POMGNT1",
        "hgnc": "HGNC:19139",
        "name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomgnt1"
      },
      {
        "slug": "pomgnt2",
        "symbol": "POMGNT2",
        "hgnc": "HGNC:25902",
        "name": "protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomgnt2"
      },
      {
        "slug": "pomk",
        "symbol": "POMK",
        "hgnc": "HGNC:26267",
        "name": "protein O-mannose kinase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomk"
      },
      {
        "slug": "pomt1",
        "symbol": "POMT1",
        "hgnc": "HGNC:9202",
        "name": "protein O-mannosyltransferase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomt1"
      },
      {
        "slug": "pomt2",
        "symbol": "POMT2",
        "hgnc": "HGNC:19743",
        "name": "protein O-mannosyltransferase 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomt2"
      },
      {
        "slug": "rxylt1",
        "symbol": "RXYLT1",
        "hgnc": "HGNC:13530",
        "name": "ribitol xylosyltransferase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rxylt1"
      },
      {
        "slug": "sil1",
        "symbol": "SIL1",
        "hgnc": "HGNC:24624",
        "name": "SIL1 nucleotide exchange factor",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sil1"
      },
      {
        "slug": "abhd5",
        "symbol": "ABHD5",
        "hgnc": "HGNC:21396",
        "name": "abhydrolase domain containing 5, lysophosphatidic acid acyltransferase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abhd5"
      },
      {
        "slug": "cav3",
        "symbol": "CAV3",
        "hgnc": "HGNC:1529",
        "name": "caveolin 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cav3"
      },
      {
        "slug": "cryab",
        "symbol": "CRYAB",
        "hgnc": "HGNC:2389",
        "name": "crystallin alpha B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cryab"
      },
      {
        "slug": "klhl9",
        "symbol": "KLHL9",
        "hgnc": "HGNC:18732",
        "name": "kelch like family member 9",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/klhl9"
      },
      {
        "slug": "pla2g6",
        "symbol": "PLA2G6",
        "hgnc": "HGNC:9039",
        "name": "phospholipase A2 group VI",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pla2g6"
      },
      {
        "slug": "pnpla2",
        "symbol": "PNPLA2",
        "hgnc": "HGNC:30802",
        "name": "patatin like domain 2, triacylglycerol lipase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pnpla2"
      },
      {
        "slug": "sco2",
        "symbol": "SCO2",
        "hgnc": "HGNC:10604",
        "name": "synthesis of cytochrome C oxidase 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/sco2"
      },
      {
        "slug": "trappc11",
        "symbol": "TRAPPC11",
        "hgnc": "HGNC:25751",
        "name": "trafficking protein particle complex subunit 11",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trappc11"
      },
      {
        "slug": "ryr1",
        "symbol": "RYR1",
        "hgnc": "HGNC:10483",
        "name": "ryanodine receptor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ryr1"
      },
      {
        "slug": "gyg1",
        "symbol": "GYG1",
        "hgnc": "HGNC:4699",
        "name": "glycogenin 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gyg1"
      },
      {
        "slug": "ky",
        "symbol": "KY",
        "hgnc": "HGNC:26576",
        "name": "kyphoscoliosis peptidase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ky"
      },
      {
        "slug": "syne1",
        "symbol": "SYNE1",
        "hgnc": "HGNC:17089",
        "name": "spectrin repeat containing nuclear envelope protein 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/syne1"
      }
    ]
  }
}