{
  "url": "https://dantelabs.com/fi/genes/mmp13",
  "gene": {
    "slug": "mmp13",
    "symbol": "MMP13",
    "name": "matrix metallopeptidase 13",
    "hgnc": "HGNC:7159",
    "summary": null,
    "location": "11q22.2",
    "locusType": "gene with protein product",
    "aliases": [
      "CLG3"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000137745",
    "entrezId": 4322,
    "omim": [
      "600108"
    ],
    "uniprot": [
      "P45452"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 102942995,
      "end": 102955732,
      "strand": "-",
      "ensemblTranscript": "ENST00000260302.8",
      "refseqTranscript": "NM_002427.4",
      "ensemblProtein": "ENSP00000260302.3",
      "refseqProtein": "NP_002418.1",
      "exons": [
        {
          "start": 102942995,
          "end": 102944366
        },
        {
          "start": 102945646,
          "end": 102945749
        },
        {
          "start": 102947891,
          "end": 102948050
        },
        {
          "start": 102949025,
          "end": 102949158
        },
        {
          "start": 102950110,
          "end": 102950227
        },
        {
          "start": 102952012,
          "end": 102952173
        },
        {
          "start": 102954156,
          "end": 102954281
        },
        {
          "start": 102954458,
          "end": 102954606
        },
        {
          "start": 102955252,
          "end": 102955493
        },
        {
          "start": 102955586,
          "end": 102955732
        }
      ],
      "cds": {
        "start": 102944266,
        "end": 102955705
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 102813724,
      "end": 102826463,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 102449364,
      "end": 103449363,
      "genes": [
        {
          "symbol": "TMEM123",
          "ensemblId": "ENSG00000152558",
          "biotype": "protein_coding",
          "start": 102396329,
          "end": 102470384,
          "strand": "-",
          "slug": "tmem123"
        },
        {
          "symbol": "MMP7",
          "ensemblId": "ENSG00000137673",
          "biotype": "protein_coding",
          "start": 102520508,
          "end": 102530853,
          "strand": "-",
          "slug": "mmp7"
        },
        {
          "symbol": "MMP20",
          "ensemblId": "ENSG00000137674",
          "biotype": "protein_coding",
          "start": 102576832,
          "end": 102625332,
          "strand": "-",
          "slug": "mmp20"
        },
        {
          "symbol": "MMP27",
          "ensemblId": "ENSG00000137675",
          "biotype": "protein_coding",
          "start": 102691487,
          "end": 102705778,
          "strand": "-",
          "slug": "mmp27"
        },
        {
          "symbol": "MMP8",
          "ensemblId": "ENSG00000118113",
          "biotype": "protein_coding",
          "start": 102711796,
          "end": 102727050,
          "strand": "-",
          "slug": "mmp8"
        },
        {
          "symbol": "MMP10",
          "ensemblId": "ENSG00000166670",
          "biotype": "protein_coding",
          "start": 102770502,
          "end": 102780628,
          "strand": "-",
          "slug": "mmp10"
        },
        {
          "symbol": "MMP1",
          "ensemblId": "ENSG00000196611",
          "biotype": "protein_coding",
          "start": 102789401,
          "end": 102798167,
          "strand": "-",
          "slug": "mmp1"
        },
        {
          "symbol": "MMP3",
          "ensemblId": "ENSG00000149968",
          "biotype": "protein_coding",
          "start": 102835801,
          "end": 102843615,
          "strand": "-",
          "slug": "mmp3"
        },
        {
          "symbol": "MMP12",
          "ensemblId": "ENSG00000262406",
          "biotype": "protein_coding",
          "start": 102862734,
          "end": 102874990,
          "strand": "-",
          "slug": "mmp12"
        },
        {
          "symbol": "DCUN1D5",
          "ensemblId": "ENSG00000137692",
          "biotype": "protein_coding",
          "start": 103050686,
          "end": 103092203,
          "strand": "-",
          "slug": "dcun1d5"
        },
        {
          "symbol": "DYNC2H1",
          "ensemblId": "ENSG00000187240",
          "biotype": "protein_coding",
          "start": 103109351,
          "end": 103479863,
          "strand": "+",
          "slug": "dync2h1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-dentition",
        "name": "Abnormal dentition",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-dentition"
      },
      {
        "slug": "hip-dysplasia",
        "name": "Abnormal formation of the hip",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hip-dysplasia"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-morphology-of-ulna",
        "name": "Abnormal morphology of ulna",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-morphology-of-ulna"
      },
      {
        "slug": "abnormal-epiphysis-morphology",
        "name": "Abnormal shape of end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-epiphysis-morphology"
      },
      {
        "slug": "abnormal-ulnar-metaphysis-morphology",
        "name": "Abnormal ulnar metaphysis morphology",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-ulnar-metaphysis-morphology"
      },
      {
        "slug": "abnormality-of-the-lower-limb",
        "name": "Abnormality of the lower limb",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-lower-limb"
      },
      {
        "slug": "abnormal-metaphysis-morphology",
        "name": "Abnormality of the wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-metaphysis-morphology"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-radius",
        "name": "Aplasia/Hypoplasia of the radius",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-radius"
      },
      {
        "slug": "bowing-of-the-legs",
        "name": "Bowed legs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bowing-of-the-legs"
      },
      {
        "slug": "tibial-bowing",
        "name": "Bowed shankbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tibial-bowing"
      },
      {
        "slug": "femoral-bowing",
        "name": "Bowed thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/femoral-bowing"
      },
      {
        "slug": "radial-bowing",
        "name": "Bowing of outer large bone of the forearm",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/radial-bowing"
      },
      {
        "slug": "bowing-of-the-long-bones",
        "name": "Bowing of the long bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bowing-of-the-long-bones"
      },
      {
        "slug": "metaphyseal-widening",
        "name": "Broad wide portion of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-widening"
      },
      {
        "slug": "coxa-vara",
        "name": "Coxa vara",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/coxa-vara"
      },
      {
        "slug": "ulnar-bowing",
        "name": "Curving of inner forearm bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/ulnar-bowing"
      },
      {
        "slug": "osteoarthritis",
        "name": "Degenerative joint disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/osteoarthritis"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "carious-teeth",
        "name": "Dental cavities",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/carious-teeth"
      },
      {
        "slug": "disproportionate-short-stature",
        "name": "Disproportionate short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/disproportionate-short-stature"
      },
      {
        "slug": "rhizomelia",
        "name": "Disproportionately short upper portion of limb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system",
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/rhizomelia"
      },
      {
        "slug": "flared-iliac-wing",
        "name": "Flared iliac wing",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flared-iliac-wing"
      },
      {
        "slug": "flared-metaphysis",
        "name": "Flared wide portion of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/flared-metaphysis"
      },
      {
        "slug": "flared-irregular-rib-ends",
        "name": "Flared, irregular rib ends",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flared-irregular-rib-ends"
      },
      {
        "slug": "flattened-epiphysis",
        "name": "Flat end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/flattened-epiphysis"
      },
      {
        "slug": "platyspondyly",
        "name": "Flattened vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/platyspondyly"
      },
      {
        "slug": "metaphyseal-sclerosis",
        "name": "Increased bone density in wide portion of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-sclerosis"
      },
      {
        "slug": "irregular-sclerotic-endplates",
        "name": "Irregular sclerotic endplates",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/irregular-sclerotic-endplates"
      },
      {
        "slug": "metaphyseal-irregularity",
        "name": "Irregular wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/metaphyseal-irregularity"
      },
      {
        "slug": "joint-stiffness",
        "name": "Joint stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/joint-stiffness"
      },
      {
        "slug": "knee-osteoarthritis",
        "name": "Knee osteoarthritis",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/knee-osteoarthritis"
      },
      {
        "slug": "knee-pain",
        "name": "Knee pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/knee-pain"
      },
      {
        "slug": "genu-valgum",
        "name": "Knock knees",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/genu-valgum"
      },
      {
        "slug": "limited-elbow-extension",
        "name": "Limited elbow extension",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/limited-elbow-extension"
      },
      {
        "slug": "reduced-bone-mineral-density",
        "name": "Low solidness and mass of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-bone-mineral-density"
      },
      {
        "slug": "metaphyseal-chondrodysplasia",
        "name": "Metaphyseal chondrodysplasia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/metaphyseal-chondrodysplasia"
      },
      {
        "slug": "metaphyseal-cupping",
        "name": "Metaphyseal cupping",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-cupping"
      },
      {
        "slug": "metaphyseal-dysplasia",
        "name": "Metaphyseal dysplasia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metaphyseal-dysplasia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "osteochondritis-dissecans",
        "name": "Osteochondritis dissecans",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteochondritis-dissecans"
      },
      {
        "slug": "genu-varum",
        "name": "Outward bow-leggedness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/genu-varum"
      },
      {
        "slug": "pear-shaped-vertebrae",
        "name": "Pear-shaped vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pear-shaped-vertebrae"
      },
      {
        "slug": "progressive-leg-bowing",
        "name": "Progressive leg bowing",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-leg-bowing"
      },
      {
        "slug": "hyperlordosis",
        "name": "Prominent swayback",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperlordosis"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "short-lower-limbs",
        "name": "Short lower limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-lower-limbs"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "small-epiphyses",
        "name": "Small end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/small-epiphyses"
      },
      {
        "slug": "spondyloepimetaphyseal-dysplasia",
        "name": "Spondyloepimetaphyseal dysplasia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/spondyloepimetaphyseal-dysplasia"
      },
      {
        "slug": "thick-growth-plates",
        "name": "Thick growth plates",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thick-growth-plates"
      },
      {
        "slug": "waddling-gait",
        "name": "Waddling gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/waddling-gait"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}