{
  "url": "https://dantelabs.com/ro/genes/col9a1",
  "gene": {
    "slug": "col9a1",
    "symbol": "COL9A1",
    "name": "collagen type IX alpha 1 chain",
    "hgnc": "HGNC:2217",
    "summary": null,
    "location": "6q13",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000112280",
    "entrezId": 1297,
    "omim": [
      "120210"
    ],
    "uniprot": [
      "P20849"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 70216126,
      "end": 70303084,
      "strand": "-",
      "ensemblTranscript": "ENST00000357250.11",
      "refseqTranscript": "NM_001851.6",
      "ensemblProtein": "ENSP00000349790.6",
      "refseqProtein": "NP_001842.3",
      "exons": [
        {
          "start": 70216126,
          "end": 70217081
        },
        {
          "start": 70225932,
          "end": 70226009
        },
        {
          "start": 70232583,
          "end": 70232771
        },
        {
          "start": 70234539,
          "end": 70234593
        },
        {
          "start": 70234794,
          "end": 70234940
        },
        {
          "start": 70239254,
          "end": 70239286
        },
        {
          "start": 70240689,
          "end": 70240733
        },
        {
          "start": 70241419,
          "end": 70241454
        },
        {
          "start": 70241964,
          "end": 70242035
        },
        {
          "start": 70242662,
          "end": 70242715
        },
        {
          "start": 70252120,
          "end": 70252173
        },
        {
          "start": 70252262,
          "end": 70252315
        },
        {
          "start": 70253385,
          "end": 70253429
        },
        {
          "start": 70254476,
          "end": 70254529
        },
        {
          "start": 70254963,
          "end": 70255016
        },
        {
          "start": 70255150,
          "end": 70255203
        },
        {
          "start": 70255337,
          "end": 70255390
        },
        {
          "start": 70256768,
          "end": 70256821
        },
        {
          "start": 70260657,
          "end": 70260710
        },
        {
          "start": 70263244,
          "end": 70263297
        },
        {
          "start": 70266717,
          "end": 70266770
        },
        {
          "start": 70268804,
          "end": 70268860
        },
        {
          "start": 70269633,
          "end": 70269665
        },
        {
          "start": 70270314,
          "end": 70270367
        },
        {
          "start": 70271655,
          "end": 70271708
        },
        {
          "start": 70272065,
          "end": 70272088
        },
        {
          "start": 70274047,
          "end": 70274082
        },
        {
          "start": 70274719,
          "end": 70274772
        },
        {
          "start": 70280812,
          "end": 70280874
        },
        {
          "start": 70281004,
          "end": 70281039
        },
        {
          "start": 70281390,
          "end": 70281464
        },
        {
          "start": 70282898,
          "end": 70282918
        },
        {
          "start": 70283737,
          "end": 70283820
        },
        {
          "start": 70294167,
          "end": 70294563
        },
        {
          "start": 70300043,
          "end": 70300175
        },
        {
          "start": 70300309,
          "end": 70300386
        },
        {
          "start": 70302001,
          "end": 70302074
        },
        {
          "start": 70302911,
          "end": 70303084
        }
      ],
      "cds": {
        "start": 70216897,
        "end": 70302924
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 70924764,
      "end": 71012786,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 69759605,
      "end": 70759604,
      "genes": [
        {
          "symbol": "LMBRD1",
          "ensemblId": "ENSG00000168216",
          "biotype": "protein_coding",
          "start": 69672757,
          "end": 69867236,
          "strand": "-",
          "slug": "lmbrd1"
        },
        {
          "symbol": "COL19A1",
          "ensemblId": "ENSG00000082293",
          "biotype": "protein_coding",
          "start": 69866428,
          "end": 70215059,
          "strand": "+",
          "slug": "col19a1"
        },
        {
          "symbol": "FAM135A",
          "ensemblId": "ENSG00000082269",
          "biotype": "protein_coding",
          "start": 70412941,
          "end": 70561610,
          "strand": "+",
          "slug": "fam135a"
        },
        {
          "symbol": "SDHAF4",
          "ensemblId": "ENSG00000154079",
          "biotype": "protein_coding",
          "start": 70566909,
          "end": 70598427,
          "strand": "+",
          "slug": "sdhaf4"
        },
        {
          "symbol": "SMAP1",
          "ensemblId": "ENSG00000112305",
          "biotype": "protein_coding",
          "start": 70667646,
          "end": 70862015,
          "strand": "+",
          "slug": "smap1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "epiphyseal-and-spondyloepiphyseal-dysplasias",
        "name": "Displazii epifizare și spondiloepifizare",
        "diseases": [
          {
            "mondoId": "MONDO:0016648",
            "name": "Displazie epifizară multiplă",
            "genes": 6,
            "inheritance": null,
            "description": "Un grup de afecțiuni care afectează capetele oaselor lungi, provocând dureri și rigiditate articulară și osteoartrită precoce, cauzate de gene precum COMP, MATN3, COL9A1, COL9A2, COL9A3 și SLC26A2.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/epiphyseal-and-spondyloepiphyseal-dysplasias"
      },
      {
        "slug": "vitreoretinopathy",
        "name": "Vitreoretinopatie",
        "diseases": [
          {
            "mondoId": "MONDO:0020248",
            "name": "Degenerescență vitreoretiniană",
            "genes": 21,
            "inheritance": null,
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/vitreoretinopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "epiphyseal-dysplasia",
        "name": "Abnormal development of end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/epiphyseal-dysplasia"
      },
      {
        "slug": "abnormal-patella-morphology",
        "name": "Abnormal kneecap",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-patella-morphology"
      },
      {
        "slug": "abnormal-radial-epiphysis-morphology",
        "name": "Abnormal radial epiphysis morphology",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-radial-epiphysis-morphology"
      },
      {
        "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-vitreous-humor-morphology",
        "name": "Abnormal vitreous humor morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-vitreous-humor-morphology"
      },
      {
        "slug": "abnormal-elbow-epiphysis-morphology",
        "name": "Abnormality of end part of the elbow bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-elbow-epiphysis-morphology"
      },
      {
        "slug": "abnormality-of-the-ankle",
        "name": "Abnormality of the ankle",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-ankle"
      },
      {
        "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": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-epiphyses-of-the-feet"
      },
      {
        "slug": "abnormality-of-the-knee",
        "name": "Abnormality of the knee",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-knee"
      },
      {
        "slug": "astigmatism",
        "name": "Astigmatism",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/astigmatism"
      },
      {
        "slug": "hyperplasia-of-midface",
        "name": "Big midface",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperplasia-of-midface"
      },
      {
        "slug": "bilateral-coxa-valga",
        "name": "Bilateral coxa valga",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bilateral-coxa-valga"
      },
      {
        "slug": "broad-femoral-neck",
        "name": "Broad femoral neck",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/broad-femoral-neck"
      },
      {
        "slug": "chorioretinal-atrophy",
        "name": "Chorioretinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chorioretinal-atrophy"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "coxa-vara",
        "name": "Coxa vara",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coxa-vara"
      },
      {
        "slug": "osteoarthritis",
        "name": "Degenerative joint disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/osteoarthritis"
      },
      {
        "slug": "degenerative-vitreoretinopathy",
        "name": "Degenerative vitreoretinopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/degenerative-vitreoretinopathy"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "pes-planus",
        "name": "Dropped arches",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pes-planus"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "flat-capital-femoral-epiphysis",
        "name": "Flat end part of innermost thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/flat-capital-femoral-epiphysis"
      },
      {
        "slug": "flat-distal-femoral-epiphysis",
        "name": "Flat end part of outermost thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flat-distal-femoral-epiphysis"
      },
      {
        "slug": "flat-face",
        "name": "Flat face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/flat-face"
      },
      {
        "slug": "platyspondyly",
        "name": "Flattened vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/platyspondyly"
      },
      {
        "slug": "fragmented-metacarpal-epiphysis",
        "name": "Fragmentation of end part of the long bone of hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fragmented-metacarpal-epiphysis"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "arthralgia-of-the-hip",
        "name": "Hip joint pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arthralgia-of-the-hip"
      },
      {
        "slug": "hypoplastic-iliac-wing",
        "name": "Hypoplastic iliac wing",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-iliac-wing"
      },
      {
        "slug": "intervertebral-disk-calcification",
        "name": "Intervertebral disk calcification",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intervertebral-disk-calcification"
      },
      {
        "slug": "intervertebral-space-narrowing",
        "name": "Intervertebral space narrowing",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intervertebral-space-narrowing"
      },
      {
        "slug": "irregular-capital-femoral-epiphysis",
        "name": "Irregular end part of innermost thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/irregular-capital-femoral-epiphysis"
      },
      {
        "slug": "irregular-epiphyses",
        "name": "Irregular end part of long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/irregular-epiphyses"
      },
      {
        "slug": "irregular-distal-femoral-epiphysis",
        "name": "Irregular outermost thighbone end part",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/irregular-distal-femoral-epiphysis"
      },
      {
        "slug": "irregular-femoral-epiphysis",
        "name": "Irregular thighbone end part",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/irregular-femoral-epiphysis"
      },
      {
        "slug": "irregular-vertebral-endplates",
        "name": "Irregular vertebral endplates",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/irregular-vertebral-endplates"
      },
      {
        "slug": "arthralgia",
        "name": "Joint pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arthralgia"
      },
      {
        "slug": "knee-pain",
        "name": "Knee pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/knee-pain"
      },
      {
        "slug": "genu-valgum",
        "name": "Knock knees",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/genu-valgum"
      },
      {
        "slug": "lattice-retinal-degeneration",
        "name": "Lattice retinal degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lattice-retinal-degeneration"
      },
      {
        "slug": "limb-undergrowth",
        "name": "Limb undergrowth",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-undergrowth"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "midface-retrusion",
        "name": "Midface retrusion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/midface-retrusion"
      },
      {
        "slug": "multiple-epiphyseal-dysplasia",
        "name": "Multiple epiphyseal dysplasia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/multiple-epiphyseal-dysplasia"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "hypernasal-speech",
        "name": "Nasal speech",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypernasal-speech"
      },
      {
        "slug": "genu-varum",
        "name": "Outward bow-leggedness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/genu-varum"
      },
      {
        "slug": "postexertional-symptom-exacerbation",
        "name": "Postexertional symptom exacerbation",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/postexertional-symptom-exacerbation"
      },
      {
        "slug": "radially-deviated-wrists",
        "name": "Radially deviated wrists",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/radially-deviated-wrists"
      },
      {
        "slug": "reduced-arm-span",
        "name": "Reduced arm span",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-arm-span"
      },
      {
        "slug": "retinal-detachment",
        "name": "Retinal detachment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinal-detachment"
      },
      {
        "slug": "rhegmatogenous-retinal-detachment",
        "name": "Rhegmatogenous retinal detachment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/rhegmatogenous-retinal-detachment"
      },
      {
        "slug": "schmorl-s-node",
        "name": "Schmorl's node",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/schmorl-s-node"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "high-myopia",
        "name": "Severe near sightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/high-myopia"
      },
      {
        "slug": "short-femoral-neck",
        "name": "Short neck of thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-femoral-neck"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "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": "frequent",
        "url": "https://dantelabs.com/traits/short-metacarpal"
      },
      {
        "slug": "small-epiphyses",
        "name": "Small end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/small-epiphyses"
      },
      {
        "slug": "spondyloepiphyseal-dysplasia",
        "name": "Spondyloepiphyseal dysplasia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spondyloepiphyseal-dysplasia"
      },
      {
        "slug": "ulnar-deviated-club-hands",
        "name": "Ulnar deviated club hands",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ulnar-deviated-club-hands"
      },
      {
        "slug": "vitreoretinopathy",
        "name": "Vitreoretinopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vitreoretinopathy"
      },
      {
        "slug": "waddling-gait",
        "name": "Waddling gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/waddling-gait"
      },
      {
        "slug": "malar-flattening",
        "name": "Zygomatic flattening",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/malar-flattening"
      }
    ],
    "related": [
      {
        "slug": "col9a2",
        "symbol": "COL9A2",
        "name": "collagen type IX alpha 2 chain",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/col9a2"
      },
      {
        "slug": "col9a3",
        "symbol": "COL9A3",
        "name": "collagen type IX alpha 3 chain",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/col9a3"
      },
      {
        "slug": "best1",
        "symbol": "BEST1",
        "name": "bestrophin 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/best1"
      },
      {
        "slug": "capn5",
        "symbol": "CAPN5",
        "name": "calpain 5",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/capn5"
      },
      {
        "slug": "col11a1",
        "symbol": "COL11A1",
        "name": "collagen type XI alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/col11a1"
      },
      {
        "slug": "col18a1",
        "symbol": "COL18A1",
        "name": "collagen type XVIII alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/col18a1"
      },
      {
        "slug": "col2a1",
        "symbol": "COL2A1",
        "name": "collagen type II alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/col2a1"
      },
      {
        "slug": "comp",
        "symbol": "COMP",
        "name": "cartilage oligomeric matrix protein",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/comp"
      },
      {
        "slug": "ctnnb1",
        "symbol": "CTNNB1",
        "name": "catenin beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ctnnb1"
      },
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/dync1h1"
      },
      {
        "slug": "fzd4",
        "symbol": "FZD4",
        "name": "frizzled class receptor 4",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/fzd4"
      },
      {
        "slug": "kcnj13",
        "symbol": "KCNJ13",
        "name": "potassium inwardly rectifying channel subfamily J member 13",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/kcnj13"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}