{
  "url": "https://dantelabs.com/it/genes/hsd11b1",
  "gene": {
    "slug": "hsd11b1",
    "symbol": "HSD11B1",
    "name": "hydroxysteroid 11-beta dehydrogenase 1",
    "hgnc": "HGNC:5208",
    "summary": null,
    "location": "1q32.2",
    "locusType": "gene with protein product",
    "aliases": [
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    "previousSymbols": [
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    "entrezId": 3290,
    "omim": [
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    ],
    "uniprot": [
      "P28845"
    ],
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      "release": "v1.5",
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      "ensemblTranscript": "ENST00000367027.5",
      "refseqTranscript": "NM_005525.4",
      "ensemblProtein": "ENSP00000355994.3",
      "refseqProtein": "NP_005516.1",
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    },
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      "genes": [
        {
          "symbol": "CAMK1G",
          "ensemblId": "ENSG00000008118",
          "biotype": "protein_coding",
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          "end": 209613939,
          "strand": "+",
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        },
        {
          "symbol": "LAMB3",
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          "biotype": "protein_coding",
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          "end": 209653146,
          "strand": "-",
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        {
          "symbol": "G0S2",
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          "end": 209676390,
          "strand": "+",
          "slug": "g0s2"
        },
        {
          "symbol": "TRAF3IP3",
          "ensemblId": "ENSG00000009790",
          "biotype": "protein_coding",
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        {
          "symbol": "C1orf74",
          "ensemblId": "ENSG00000162757",
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          "strand": "-",
          "slug": "c1orf74"
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        {
          "symbol": "",
          "ensemblId": "ENSG00000289700",
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        },
        {
          "symbol": "IRF6",
          "ensemblId": "ENSG00000117595",
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          "strand": "-",
          "slug": "irf6"
        },
        {
          "symbol": "UTP25",
          "ensemblId": "ENSG00000117597",
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        {
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          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "syt14"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-deoxycorticosterone-level",
        "name": "Abnormal circulating deoxycorticosterone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-deoxycorticosterone-level"
      },
      {
        "slug": "accelerated-skeletal-maturation",
        "name": "Advanced bone age",
        "systems": [
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        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/accelerated-skeletal-maturation"
      },
      {
        "slug": "insulin-resistance",
        "name": "Body fails to respond to insulin",
        "systems": [
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        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/insulin-resistance"
      },
      {
        "slug": "congenital-adrenal-hyperplasia",
        "name": "Congenital adrenal hyperplasia",
        "systems": [
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        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/congenital-adrenal-hyperplasia"
      },
      {
        "slug": "acanthosis-nigricans",
        "name": "Darkened and thickened skin",
        "systems": [
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        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/acanthosis-nigricans"
      },
      {
        "slug": "decreased-circulating-renin-concentration",
        "name": "Decreased circulating renin concentration",
        "systems": [
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        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-circulating-renin-concentration"
      },
      {
        "slug": "precocious-puberty",
        "name": "Early onset of puberty",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/precocious-puberty"
      },
      {
        "slug": "elevated-serum-11-deoxycortisol",
        "name": "Elevated serum 11-deoxycortisol",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-serum-11-deoxycortisol"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "increased-circulating-androgen-concentration",
        "name": "Increased circulating androgen concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-androgen-concentration"
      },
      {
        "slug": "hypokalemia",
        "name": "Low blood potassium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypokalemia"
      },
      {
        "slug": "low-tetrahydrocortisol-thf-plus-5-alpha-thf-tetrahydrocortisone-the-ratio",
        "name": "Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-tetrahydrocortisol-thf-plus-5-alpha-thf-tetrahydrocortisone-the-ratio"
      },
      {
        "slug": "irregular-menstruation",
        "name": "Menstrual irregularity",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/irregular-menstruation"
      },
      {
        "slug": "obesity",
        "name": "Obesity",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/obesity"
      },
      {
        "slug": "premature-adrenarche",
        "name": "Premature adrenarche",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/premature-adrenarche"
      },
      {
        "slug": "premature-pubarche",
        "name": "Premature pubic hair growth",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/premature-pubarche"
      },
      {
        "slug": "reduced-urine-tetrahydrocortisol-plus-5-alpha-thf-to-tetrahydrocortisone-ratio",
        "name": "Reduced urine tetrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-urine-tetrahydrocortisol-plus-5-alpha-thf-to-tetrahydrocortisone-ratio"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}