{
  "url": "https://dantelabs.com/fi/genes/matn3",
  "gene": {
    "slug": "matn3",
    "symbol": "MATN3",
    "name": "matrilin 3",
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    "uniprot": [
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    "model": {
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      "release": "v1.5",
      "chrom": "2",
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      "strand": "-",
      "ensemblTranscript": "ENST00000407540.8",
      "refseqTranscript": "NM_002381.5",
      "ensemblProtein": "ENSP00000383894.3",
      "refseqProtein": "NP_002372.1",
      "exons": [
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      "cds": {
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 20191872,
      "end": 20212455,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 19502360,
      "end": 20502359,
      "genes": [
        {
          "symbol": "TTC32",
          "ensemblId": "ENSG00000183891",
          "biotype": "protein_coding",
          "start": 19896631,
          "end": 19902282,
          "strand": "-",
          "slug": "ttc32"
        },
        {
          "symbol": "WDR35",
          "ensemblId": "ENSG00000118965",
          "biotype": "protein_coding",
          "start": 19910260,
          "end": 19990162,
          "strand": "-",
          "slug": "wdr35"
        },
        {
          "symbol": "LAPTM4A",
          "ensemblId": "ENSG00000068697",
          "biotype": "protein_coding",
          "start": 20032648,
          "end": 20052054,
          "strand": "-",
          "slug": "laptm4a"
        },
        {
          "symbol": "SDC1",
          "ensemblId": "ENSG00000115884",
          "biotype": "protein_coding",
          "start": 20200796,
          "end": 20225512,
          "strand": "-",
          "slug": "sdc1"
        },
        {
          "symbol": "PUM2",
          "ensemblId": "ENSG00000055917",
          "biotype": "protein_coding",
          "start": 20248692,
          "end": 20352234,
          "strand": "-",
          "slug": "pum2"
        },
        {
          "symbol": "RHOB",
          "ensemblId": "ENSG00000143878",
          "biotype": "protein_coding",
          "start": 20447074,
          "end": 20449440,
          "strand": "+",
          "slug": "rhob"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "epiphyseal-and-spondyloepiphyseal-dysplasias",
        "name": "Epifyysi- ja spondyloepifyysidysplasiat",
        "diseases": [
          {
            "mondoId": "MONDO:0016648",
            "name": "Multippeli epifyysidysplasia",
            "genes": 6,
            "inheritance": null,
            "description": "Ryhmä sairauksia, jotka vaikuttavat pitkien luiden päihin ja aiheuttavat nivelkipua, jäykkyyttä ja varhaista nivelrikkoa. Niitä aiheuttavat muun muassa geenit COMP, MATN3, COL9A1, COL9A2, COL9A3 ja SLC26A2.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/epiphyseal-and-spondyloepiphyseal-dysplasias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "epiphyseal-dysplasia",
        "name": "Abnormal development of end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/epiphyseal-dysplasia"
      },
      {
        "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": "occasional",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-upper-limb-epiphysis-morphology",
        "name": "Abnormal shape of end part of upper limb long bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-upper-limb-epiphysis-morphology"
      },
      {
        "slug": "abnormality-of-the-epiphyses-of-the-feet",
        "name": "Abnormality of the end part of the foot bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-epiphyses-of-the-feet"
      },
      {
        "slug": "abnormal-hip-joint-morphology",
        "name": "Abnormality of the hip joint",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-hip-joint-morphology"
      },
      {
        "slug": "abnormal-acetabulum-morphology",
        "name": "Abnormality of the hipbone socket",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-acetabulum-morphology"
      },
      {
        "slug": "ankle-pain",
        "name": "Ankle pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ankle-pain"
      },
      {
        "slug": "avascular-necrosis-of-the-capital-femoral-epiphysis",
        "name": "Avascular necrosis of the capital femoral epiphysis",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/avascular-necrosis-of-the-capital-femoral-epiphysis"
      },
      {
        "slug": "back-pain",
        "name": "Back pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/back-pain"
      },
      {
        "slug": "bowing-of-the-legs",
        "name": "Bowed legs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "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": "occasional",
        "url": "https://dantelabs.com/traits/femoral-bowing"
      },
      {
        "slug": "broad-femoral-neck",
        "name": "Broad femoral neck",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/broad-femoral-neck"
      },
      {
        "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"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coxa-vara"
      },
      {
        "slug": "decreased-hip-abduction",
        "name": "Decreased hip abduction",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-hip-abduction"
      },
      {
        "slug": "osteoarthritis",
        "name": "Degenerative joint disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/osteoarthritis"
      },
      {
        "slug": "delayed-tarsal-ossification",
        "name": "Delayed ankle bone maturation",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-tarsal-ossification"
      },
      {
        "slug": "delayed-ossification-of-carpal-bones",
        "name": "Delayed maturation of wrist bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-ossification-of-carpal-bones"
      },
      {
        "slug": "delayed-proximal-femoral-epiphyseal-ossification",
        "name": "Delayed proximal femoral epiphyseal ossification",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-proximal-femoral-epiphyseal-ossification"
      },
      {
        "slug": "disproportionate-short-limb-short-stature",
        "name": "Disproportionate short-limb short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/disproportionate-short-limb-short-stature"
      },
      {
        "slug": "dysplastic-iliac-wing",
        "name": "Dysplastic iliac wing",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/dysplastic-iliac-wing"
      },
      {
        "slug": "enlarged-joints",
        "name": "Enlarged joints",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/enlarged-joints"
      },
      {
        "slug": "lumbar-hyperlordosis",
        "name": "Excessive inward curvature of lower spine",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lumbar-hyperlordosis"
      },
      {
        "slug": "flat-acetabular-roof",
        "name": "Flat acetabular roof",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flat-acetabular-roof"
      },
      {
        "slug": "flat-face",
        "name": "Flat face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/flat-face"
      },
      {
        "slug": "platyspondyly",
        "name": "Flattened vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/platyspondyly"
      },
      {
        "slug": "pectus-excavatum",
        "name": "Funnel chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pectus-excavatum"
      },
      {
        "slug": "heberden-node",
        "name": "Heberden node",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/heberden-node"
      },
      {
        "slug": "arthralgia-of-the-hip",
        "name": "Hip joint pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arthralgia-of-the-hip"
      },
      {
        "slug": "hip-pain",
        "name": "Hip pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hip-pain"
      },
      {
        "slug": "hypoplastic-pubic-bone",
        "name": "Hypoplastic pubic bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplastic-pubic-bone"
      },
      {
        "slug": "intervertebral-disk-degeneration",
        "name": "Intervertebral disk degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intervertebral-disk-degeneration"
      },
      {
        "slug": "irregular-epiphyses",
        "name": "Irregular end part of long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/irregular-epiphyses"
      },
      {
        "slug": "metaphyseal-irregularity",
        "name": "Irregular wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-irregularity"
      },
      {
        "slug": "arthralgia",
        "name": "Joint pain",
        "systems": [
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/arthralgia"
      },
      {
        "slug": "joint-stiffness",
        "name": "Joint stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/joint-stiffness"
      },
      {
        "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"
        ],
        "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": "limited-elbow-extension",
        "name": "Limited elbow extension",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limited-elbow-extension"
      },
      {
        "slug": "limited-hip-movement",
        "name": "Limited hip movement",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/limited-hip-movement"
      },
      {
        "slug": "metaphyseal-spurs",
        "name": "Metaphyseal spurs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-spurs"
      },
      {
        "slug": "mild-short-stature",
        "name": "Mild short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mild-short-stature"
      },
      {
        "slug": "multiple-epiphyseal-dysplasia",
        "name": "Multiple epiphyseal dysplasia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/multiple-epiphyseal-dysplasia"
      },
      {
        "slug": "multiple-small-vertebral-fractures",
        "name": "Multiple small vertebral fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/multiple-small-vertebral-fractures"
      },
      {
        "slug": "narrow-greater-sciatic-notch",
        "name": "Narrow greater sciatic notch",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/narrow-greater-sciatic-notch"
      },
      {
        "slug": "osteoarthritis-of-the-small-joints-of-the-hand",
        "name": "Osteoarthritis of the small joints of the hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteoarthritis-of-the-small-joints-of-the-hand"
      },
      {
        "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": "ovoid-vertebral-bodies",
        "name": "Ovoid vertebral bodies",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/ovoid-vertebral-bodies"
      },
      {
        "slug": "posterior-rib-cupping",
        "name": "Posterior rib cupping",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/posterior-rib-cupping"
      },
      {
        "slug": "premature-osteoarthritis",
        "name": "Premature osteoarthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/premature-osteoarthritis"
      },
      {
        "slug": "short-long-bone",
        "name": "Short long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-long-bone"
      },
      {
        "slug": "short-femoral-neck",
        "name": "Short neck of thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-femoral-neck"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "short-metacarpal",
        "name": "Shortened long bone of hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-metacarpal"
      },
      {
        "slug": "thoracic-hypoplasia",
        "name": "Small chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thoracic-hypoplasia"
      },
      {
        "slug": "small-epiphyses",
        "name": "Small end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/small-epiphyses"
      },
      {
        "slug": "hypoplasia-of-the-capital-femoral-epiphysis",
        "name": "Small innermost thighbone end part",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-capital-femoral-epiphysis"
      },
      {
        "slug": "micromelia",
        "name": "Smaller or shorter than typical limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/micromelia"
      },
      {
        "slug": "spondyloepimetaphyseal-dysplasia",
        "name": "Spondyloepimetaphyseal dysplasia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/spondyloepimetaphyseal-dysplasia"
      },
      {
        "slug": "squared-iliac-bones",
        "name": "Squared iliac bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/squared-iliac-bones"
      },
      {
        "slug": "waddling-gait",
        "name": "Waddling gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/waddling-gait"
      }
    ],
    "related": [
      {
        "slug": "col9a1",
        "symbol": "COL9A1",
        "name": "collagen type IX alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/col9a1"
      },
      {
        "slug": "col9a2",
        "symbol": "COL9A2",
        "name": "collagen type IX alpha 2 chain",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/col9a2"
      },
      {
        "slug": "col9a3",
        "symbol": "COL9A3",
        "name": "collagen type IX alpha 3 chain",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/col9a3"
      },
      {
        "slug": "comp",
        "symbol": "COMP",
        "name": "cartilage oligomeric matrix protein",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/comp"
      },
      {
        "slug": "slc26a2",
        "symbol": "SLC26A2",
        "name": "solute carrier family 26 member 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/slc26a2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}