{
  "url": "https://dantelabs.com/ro/genes/hmgb3",
  "gene": {
    "slug": "hmgb3",
    "symbol": "HMGB3",
    "name": "high mobility group box 3",
    "hgnc": "HGNC:5004",
    "summary": null,
    "location": "Xq28",
    "locusType": "gene with protein product",
    "aliases": [
      "HMG2A",
      "MGC90319"
    ],
    "previousSymbols": [
      "HMG4"
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    "ensemblId": "ENSG00000029993",
    "entrezId": 3149,
    "omim": [
      "300193"
    ],
    "uniprot": [
      "O15347"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 150983335,
      "end": 150990771,
      "strand": "+",
      "ensemblTranscript": "ENST00000325307.12",
      "refseqTranscript": "NM_005342.4",
      "ensemblProtein": "ENSP00000359393.3",
      "refseqProtein": "NP_005333.2",
      "exons": [
        {
          "start": 150983335,
          "end": 150983376
        },
        {
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        },
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        },
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          "start": 150987128,
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        },
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          "end": 150990771
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      ],
      "cds": {
        "start": 150985600,
        "end": 150987914
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 150148982,
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      "strand": "+"
    },
    "neighbourhood": {
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      "end": 151487052,
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        {
          "symbol": "MAMLD1",
          "ensemblId": "ENSG00000013619",
          "biotype": "protein_coding",
          "start": 150361422,
          "end": 150514178,
          "strand": "+",
          "slug": "mamld1"
        },
        {
          "symbol": "MTM1",
          "ensemblId": "ENSG00000171100",
          "biotype": "protein_coding",
          "start": 150547904,
          "end": 150673322,
          "strand": "+",
          "slug": "mtm1"
        },
        {
          "symbol": "MTMR1",
          "ensemblId": "ENSG00000063601",
          "biotype": "protein_coding",
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          "end": 150765165,
          "strand": "+",
          "slug": "mtmr1"
        },
        {
          "symbol": "CD99L2",
          "ensemblId": "ENSG00000102181",
          "biotype": "protein_coding",
          "start": 150766335,
          "end": 150898816,
          "strand": "-",
          "slug": "cd99l2"
        },
        {
          "symbol": "GPR50",
          "ensemblId": "ENSG00000102195",
          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
          "symbol": "VMA21",
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          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "vma21"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
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          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "anteverted-ears",
        "name": "Anteverted ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anteverted-ears"
      },
      {
        "slug": "chorioretinal-coloboma",
        "name": "Birth defect that causes a hole in the innermost layer at the back of the eye",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chorioretinal-coloboma"
      },
      {
        "slug": "iris-coloboma",
        "name": "Cat eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/iris-coloboma"
      },
      {
        "slug": "microcornea",
        "name": "Cornea of eye less than 10mm in diameter",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microcornea"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "widely-spaced-incisors",
        "name": "Gap between front teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/widely-spaced-incisors"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "esotropia",
        "name": "Inward turning cross eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/esotropia"
      },
      {
        "slug": "kyphoscoliosis",
        "name": "Kyphoscoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/kyphoscoliosis"
      },
      {
        "slug": "pendular-nystagmus",
        "name": "Pendular nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pendular-nystagmus"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}