{
  "url": "https://dantelabs.com/fi/genes/mb",
  "gene": {
    "slug": "mb",
    "symbol": "MB",
    "name": "myoglobin",
    "hgnc": "HGNC:6915",
    "summary": null,
    "location": "22q12.3",
    "locusType": "gene with protein product",
    "aliases": [
      "PVALB"
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    "previousSymbols": [],
    "ensemblId": "ENSG00000198125",
    "entrezId": 4151,
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      "160000"
    ],
    "uniprot": [
      "P02144"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "22",
      "start": 35606764,
      "end": 35617329,
      "strand": "-",
      "ensemblTranscript": "ENST00000397326.7",
      "refseqTranscript": "NM_005368.3",
      "ensemblProtein": "ENSP00000380489.2",
      "refseqProtein": "NP_005359.1",
      "exons": [
        {
          "start": 35606764,
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        },
        {
          "start": 35610884,
          "end": 35611106
        },
        {
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        }
      ],
      "cds": {
        "start": 35607297,
        "end": 35617257
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "22",
      "start": 36002811,
      "end": 36033998,
      "strand": "-"
    },
    "neighbourhood": {
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      "genes": [
        {
          "symbol": "HMGXB4",
          "ensemblId": "ENSG00000100281",
          "biotype": "protein_coding",
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          "end": 35295807,
          "strand": "+",
          "slug": "hmgxb4"
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        {
          "symbol": "TOM1",
          "ensemblId": "ENSG00000100284",
          "biotype": "protein_coding",
          "start": 35299275,
          "end": 35351740,
          "strand": "+",
          "slug": "tom1"
        },
        {
          "symbol": "HMOX1",
          "ensemblId": "ENSG00000100292",
          "biotype": "protein_coding",
          "start": 35380361,
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          "strand": "+",
          "slug": "hmox1"
        },
        {
          "symbol": "MCM5",
          "ensemblId": "ENSG00000100297",
          "biotype": "protein_coding",
          "start": 35400076,
          "end": 35452656,
          "strand": "+",
          "slug": "mcm5"
        },
        {
          "symbol": "RASD2",
          "ensemblId": "ENSG00000100302",
          "biotype": "protein_coding",
          "start": 35539796,
          "end": 35554003,
          "strand": "+",
          "slug": "rasd2"
        },
        {
          "symbol": "APOL6",
          "ensemblId": "ENSG00000221963",
          "biotype": "protein_coding",
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          "end": 35668409,
          "strand": "+",
          "slug": "apol6"
        },
        {
          "symbol": "APOL5",
          "ensemblId": "ENSG00000128313",
          "biotype": "protein_coding",
          "start": 35717872,
          "end": 35729483,
          "strand": "+",
          "slug": "apol5"
        },
        {
          "symbol": "RBFOX2",
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          "biotype": "protein_coding",
          "start": 35738736,
          "end": 36028824,
          "strand": "-",
          "slug": "rbfox2"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "axial-muscle-weakness",
        "name": "Axial muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/axial-muscle-weakness"
      },
      {
        "slug": "centrally-nucleated-skeletal-muscle-fibers",
        "name": "Centrally nucleated skeletal muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/centrally-nucleated-skeletal-muscle-fibers"
      },
      {
        "slug": "respiratory-insufficiency-due-to-muscle-weakness",
        "name": "Decreased lung function due to weak breathing muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "increased-variability-in-muscle-fiber-diameter",
        "name": "Increased variability in muscle fiber diameter",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "proximal-lower-limb-muscle-weakness",
        "name": "Proximal lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proximal-lower-limb-muscle-weakness"
      },
      {
        "slug": "sarcoplasmic-bodies",
        "name": "Sarcoplasmic bodies",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sarcoplasmic-bodies"
      },
      {
        "slug": "type-1-muscle-fiber-predominance",
        "name": "Type 1 muscle fiber predominance",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/type-1-muscle-fiber-predominance"
      },
      {
        "slug": "weakness-of-the-intrinsic-hand-muscles",
        "name": "Weakness of the intrinsic hand muscles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/weakness-of-the-intrinsic-hand-muscles"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}