{
  "url": "https://dantelabs.com/fr/genes/col10a1",
  "gene": {
    "slug": "col10a1",
    "symbol": "COL10A1",
    "name": "collagen type X alpha 1 chain",
    "hgnc": "HGNC:2185",
    "summary": null,
    "location": "6q22.1",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000123500",
    "entrezId": 1300,
    "omim": [
      "120110"
    ],
    "uniprot": [
      "Q03692"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 116118909,
      "end": 116126132,
      "strand": "-",
      "ensemblTranscript": "ENST00000651968.1",
      "refseqTranscript": "NM_000493.4",
      "ensemblProtein": "ENSP00000498802.1",
      "refseqProtein": "NP_000484.2",
      "exons": [
        {
          "start": 116118909,
          "end": 116121961
        },
        {
          "start": 116125339,
          "end": 116125507
        },
        {
          "start": 116126053,
          "end": 116126132
        }
      ],
      "cds": {
        "start": 116120073,
        "end": 116125492
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 116440086,
      "end": 116479910,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 115622521,
      "end": 116622520,
      "genes": [
        {
          "symbol": "FRK",
          "ensemblId": "ENSG00000111816",
          "biotype": "protein_coding",
          "start": 115931149,
          "end": 116061093,
          "strand": "-",
          "slug": "frk"
        },
        {
          "symbol": "NT5DC1",
          "ensemblId": "ENSG00000178425",
          "biotype": "protein_coding",
          "start": 116100804,
          "end": 116249497,
          "strand": "+",
          "slug": "nt5dc1"
        },
        {
          "symbol": "TSPYL4",
          "ensemblId": "ENSG00000187189",
          "biotype": "protein_coding",
          "start": 116249964,
          "end": 116254075,
          "strand": "-",
          "slug": "tspyl4"
        },
        {
          "symbol": "DSE",
          "ensemblId": "ENSG00000111817",
          "biotype": "protein_coding",
          "start": 116253604,
          "end": 116444861,
          "strand": "+",
          "slug": "dse"
        },
        {
          "symbol": "TSPYL1",
          "ensemblId": "ENSG00000189241",
          "biotype": "protein_coding",
          "start": 116267760,
          "end": 116279930,
          "strand": "-",
          "slug": "tspyl1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285446",
          "biotype": "protein_coding",
          "start": 116399395,
          "end": 116463696,
          "strand": "+"
        },
        {
          "symbol": "CALHM6",
          "ensemblId": "ENSG00000188820",
          "biotype": "protein_coding",
          "start": 116461365,
          "end": 116466082,
          "strand": "+",
          "slug": "calhm6"
        },
        {
          "symbol": "TRAPPC3L",
          "ensemblId": "ENSG00000173626",
          "biotype": "protein_coding",
          "start": 116494989,
          "end": 116545684,
          "strand": "-",
          "slug": "trappc3l"
        },
        {
          "symbol": "CALHM5",
          "ensemblId": "ENSG00000178033",
          "biotype": "protein_coding",
          "start": 116511604,
          "end": 116524788,
          "strand": "+",
          "slug": "calhm5"
        },
        {
          "symbol": "CALHM4",
          "ensemblId": "ENSG00000164451",
          "biotype": "protein_coding",
          "start": 116529013,
          "end": 116561127,
          "strand": "+",
          "slug": "calhm4"
        },
        {
          "symbol": "RWDD1",
          "ensemblId": "ENSG00000111832",
          "biotype": "protein_coding",
          "start": 116571386,
          "end": 116598204,
          "strand": "+",
          "slug": "rwdd1"
        },
        {
          "symbol": "RSPH4A",
          "ensemblId": "ENSG00000111834",
          "biotype": "protein_coding",
          "start": 116616474,
          "end": 116634765,
          "strand": "+",
          "slug": "rsph4a"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "hip-dysplasia",
        "name": "Abnormal formation of the hip",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hip-dysplasia"
      },
      {
        "slug": "abnormal-vertebral-morphology",
        "name": "Abnormal vertebral morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-vertebral-morphology"
      },
      {
        "slug": "abnormal-proximal-femoral-metaphysis-morphology",
        "name": "Abnormal wide portion of innermost thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-proximal-femoral-metaphysis-morphology"
      },
      {
        "slug": "abnormal-hand-metaphysis-morphology",
        "name": "Abnormality of the wide portion of the hand bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-hand-metaphysis-morphology"
      },
      {
        "slug": "abnormal-distal-femoral-metaphysis-morphology",
        "name": "Abnormality of wide portion of outermost thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-distal-femoral-metaphysis-morphology"
      },
      {
        "slug": "anterior-rib-cupping",
        "name": "Anterior rib cupping",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anterior-rib-cupping"
      },
      {
        "slug": "bowing-of-the-legs",
        "name": "Bowed legs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bowing-of-the-legs"
      },
      {
        "slug": "femoral-bowing",
        "name": "Bowed thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/femoral-bowing"
      },
      {
        "slug": "broad-femoral-neck",
        "name": "Broad femoral neck",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/broad-femoral-neck"
      },
      {
        "slug": "broad-proximal-phalanges-of-the-hand",
        "name": "Broad innermost finger bones of the hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/broad-proximal-phalanges-of-the-hand"
      },
      {
        "slug": "broad-middle-phalanx-of-finger",
        "name": "Broad middle finger bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/broad-middle-phalanx-of-finger"
      },
      {
        "slug": "metaphyseal-widening",
        "name": "Broad wide portion of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metaphyseal-widening"
      },
      {
        "slug": "coxa-vara",
        "name": "Coxa vara",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/coxa-vara"
      },
      {
        "slug": "metaphyseal-cupping-of-metacarpals",
        "name": "Cupping of wide portion of long bone of hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/metaphyseal-cupping-of-metacarpals"
      },
      {
        "slug": "disproportionate-short-limb-short-stature",
        "name": "Disproportionate short-limb short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/disproportionate-short-limb-short-stature"
      },
      {
        "slug": "distal-femoral-metaphyseal-irregularity",
        "name": "Distal femoral metaphyseal irregularity",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-femoral-metaphyseal-irregularity"
      },
      {
        "slug": "distal-tibial-bowing",
        "name": "Distal tibial bowing",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/distal-tibial-bowing"
      },
      {
        "slug": "enlargement-of-the-proximal-femoral-epiphysis",
        "name": "Enlarged end part of innermost thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/enlargement-of-the-proximal-femoral-epiphysis"
      },
      {
        "slug": "lumbar-hyperlordosis",
        "name": "Excessive inward curvature of lower spine",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lumbar-hyperlordosis"
      },
      {
        "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": "platyspondyly",
        "name": "Flattened vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/platyspondyly"
      },
      {
        "slug": "osteosclerosis-of-ribs",
        "name": "Increased bone density in ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteosclerosis-of-ribs"
      },
      {
        "slug": "metaphyseal-sclerosis",
        "name": "Increased bone density in wide portion of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metaphyseal-sclerosis"
      },
      {
        "slug": "irregular-acetabular-roof",
        "name": "Irregular acetabular roof",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/irregular-acetabular-roof"
      },
      {
        "slug": "irregular-vertebral-endplates",
        "name": "Irregular vertebral endplates",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/irregular-vertebral-endplates"
      },
      {
        "slug": "metaphyseal-irregularity",
        "name": "Irregular wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metaphyseal-irregularity"
      },
      {
        "slug": "arthralgia",
        "name": "Joint pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arthralgia"
      },
      {
        "slug": "genu-valgum",
        "name": "Knock knees",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/genu-valgum"
      },
      {
        "slug": "limb-undergrowth",
        "name": "Limb undergrowth",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/limb-undergrowth"
      },
      {
        "slug": "metaphyseal-chondrodysplasia",
        "name": "Metaphyseal chondrodysplasia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-chondrodysplasia"
      },
      {
        "slug": "metaphyseal-cupping",
        "name": "Metaphyseal cupping",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/metaphyseal-cupping"
      },
      {
        "slug": "metaphyseal-cupping-of-proximal-phalanges",
        "name": "Metaphyseal cupping of proximal phalanges",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/metaphyseal-cupping-of-proximal-phalanges"
      },
      {
        "slug": "mild-short-stature",
        "name": "Mild short stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/mild-short-stature"
      },
      {
        "slug": "obesity",
        "name": "Obesity",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/obesity"
      },
      {
        "slug": "genu-varum",
        "name": "Outward bow-leggedness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/genu-varum"
      },
      {
        "slug": "proportionate-short-stature",
        "name": "Proportionate short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proportionate-short-stature"
      },
      {
        "slug": "proximal-femoral-metaphyseal-irregularity",
        "name": "Proximal femoral metaphyseal irregularity",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proximal-femoral-metaphyseal-irregularity"
      },
      {
        "slug": "radial-metaphyseal-irregularity",
        "name": "Radial metaphyseal irregularity",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/radial-metaphyseal-irregularity"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "short-long-bone",
        "name": "Short long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-long-bone"
      },
      {
        "slug": "short-middle-phalanx-of-finger",
        "name": "Short middle bone of finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-middle-phalanx-of-finger"
      },
      {
        "slug": "short-distal-phalanx-of-finger",
        "name": "Short outermost finger bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-distal-phalanx-of-finger"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "short-tubular-bones-of-the-hand",
        "name": "Short tubular bones of the hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-tubular-bones-of-the-hand"
      },
      {
        "slug": "thick-growth-plates",
        "name": "Thick growth plates",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thick-growth-plates"
      },
      {
        "slug": "ulnar-metaphyseal-irregularity",
        "name": "Ulnar metaphyseal irregularity",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ulnar-metaphyseal-irregularity"
      },
      {
        "slug": "waddling-gait",
        "name": "Waddling gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/waddling-gait"
      },
      {
        "slug": "widened-proximal-tibial-metaphyses",
        "name": "Wide innermost wide portion of shankbone bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/widened-proximal-tibial-metaphyses"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}