{
  "url": "https://dantelabs.com/et/genes/mal",
  "gene": {
    "slug": "mal",
    "symbol": "MAL",
    "name": "mal, T cell differentiation protein (MAL blood group)",
    "hgnc": "HGNC:6817",
    "summary": null,
    "location": "2q11.1",
    "locusType": "gene with protein product",
    "aliases": [
      "MVP17",
      "VIP17"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000172005",
    "entrezId": 4118,
    "omim": [
      "188860"
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    "uniprot": [
      "P21145"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 95025708,
      "end": 95053992,
      "strand": "+",
      "ensemblTranscript": "ENST00000309988.9",
      "refseqTranscript": "NM_002371.4",
      "ensemblProtein": "ENSP00000310880.4",
      "refseqProtein": "NP_002362.1",
      "exons": [
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          "start": 95025708,
          "end": 95025885
        },
        {
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          "end": 95048126
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        {
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      "cds": {
        "start": 95025793,
        "end": 95053455
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
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      "end": 95719737,
      "strand": "+"
    },
    "neighbourhood": {
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      "genes": [
        {
          "symbol": "AQP7B",
          "ensemblId": "ENSG00000259916",
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          "end": 94612744,
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        },
        {
          "symbol": "TEKT4",
          "ensemblId": "ENSG00000163060",
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          "strand": "+",
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        {
          "symbol": "MRPS5",
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        {
          "symbol": "",
          "ensemblId": "ENSG00000289685",
          "biotype": "protein_coding",
          "start": 95085391,
          "end": 95165391,
          "strand": "-"
        },
        {
          "symbol": "ZNF514",
          "ensemblId": "ENSG00000144026",
          "biotype": "protein_coding",
          "start": 95122087,
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          "strand": "-",
          "slug": "znf514"
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        {
          "symbol": "ZNF2",
          "ensemblId": "ENSG00000275111",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "ZNF892",
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        },
        {
          "symbol": "PROM2",
          "ensemblId": "ENSG00000155066",
          "biotype": "protein_coding",
          "start": 95274444,
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          "strand": "+",
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        },
        {
          "symbol": "KCNIP3",
          "ensemblId": "ENSG00000115041",
          "biotype": "protein_coding",
          "start": 95297305,
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          "strand": "+",
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        },
        {
          "symbol": "FAHD2A",
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          "biotype": "protein_coding",
          "start": 95402686,
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          "strand": "+",
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        },
        {
          "symbol": "TRIM43B",
          "ensemblId": "ENSG00000144010",
          "biotype": "protein_coding",
          "start": 95477008,
          "end": 95484754,
          "strand": "-",
          "slug": "trim43b"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "brisk-reflexes",
        "name": "Brisk reflexes",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/brisk-reflexes"
      },
      {
        "slug": "cerebral-dysmyelination",
        "name": "Cerebral dysmyelination",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebral-dysmyelination"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
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        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "falls",
        "name": "Falls",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/falls"
      },
      {
        "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": "intention-tremor",
        "name": "Intention tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intention-tremor"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "slug": "lower-limb-hypertonia",
        "name": "Lower limb hypertonia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lower-limb-hypertonia"
      },
      {
        "slug": "motor-regression",
        "name": "Motor regression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-regression"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}