{
  "url": "https://dantelabs.com/da/genes/rorc",
  "gene": {
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    "name": "RAR related orphan receptor C",
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      "P51449"
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        {
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        {
          "symbol": "CGN",
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        {
          "symbol": "TUFT1",
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        {
          "symbol": "CELF3",
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        {
          "symbol": "TDRKH",
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        {
          "symbol": "LINGO4",
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        {
          "symbol": "C2CD4D",
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        {
          "symbol": "S100A10",
          "ensemblId": "ENSG00000197747",
          "biotype": "protein_coding",
          "start": 151981697,
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        {
          "symbol": "S100A11",
          "ensemblId": "ENSG00000163191",
          "biotype": "protein_coding",
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        {
          "symbol": "TCHHL1",
          "ensemblId": "ENSG00000182898",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "tchhl1"
        },
        {
          "symbol": "TCHH",
          "ensemblId": "ENSG00000159450",
          "biotype": "protein_coding",
          "start": 152106317,
          "end": 152115444,
          "strand": "-",
          "slug": "tchh"
        },
        {
          "symbol": "RPTN",
          "ensemblId": "ENSG00000215853",
          "biotype": "protein_coding",
          "start": 152153595,
          "end": 152159228,
          "strand": "-",
          "slug": "rptn"
        },
        {
          "symbol": "HRNR",
          "ensemblId": "ENSG00000197915",
          "biotype": "protein_coding",
          "start": 152212076,
          "end": 152224193,
          "strand": "-",
          "slug": "hrnr"
        },
        {
          "symbol": "FLG",
          "ensemblId": "ENSG00000143631",
          "biotype": "protein_coding",
          "start": 152302165,
          "end": 152325239,
          "strand": "-",
          "slug": "flg"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "mendelian-susceptibility-to-mycobacterial-disease",
        "name": "Mendelsk modtagelighed for mykobakterielle sygdomme (MSMD)",
        "diseases": [
          {
            "mondoId": "MONDO:0019146",
            "name": "Mendelsk modtagelighed for mykobakterielle sygdomme",
            "genes": 8,
            "inheritance": null,
            "description": "Arvelige defekter i IL-12/interferon-gamma-signalvejen, forårsaget af gener såsom IL12RB1, IL12B, IFNGR1, IFNGR2, STAT1, IRF8, ISG15 og RORC.",
            "management": "Berørte personer og risikopersoner blandt slægtninge bør undgå BCG og andre levende vacciner. Infektioner kræver langvarig behandling, og nogle former reagerer på interferon-gamma.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/da/conditions/mendelian-susceptibility-to-mycobacterial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "bcgosis",
        "name": "BCGosis",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bcgosis"
      },
      {
        "slug": "recurrent-oral-thrush",
        "name": "Chronic oral thrush",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-oral-thrush"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "recurrent-aphthous-stomatitis",
        "name": "Recurrent canker sores",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-aphthous-stomatitis"
      },
      {
        "slug": "recurrent-cutaneous-fungal-infections",
        "name": "Recurrent cutaneous fungal infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-cutaneous-fungal-infections"
      },
      {
        "slug": "hypoplasia-of-the-thymus",
        "name": "Small thymus",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-thymus"
      }
    ],
    "related": [
      {
        "slug": "ifngr1",
        "symbol": "IFNGR1",
        "name": "interferon gamma receptor 1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/ifngr1"
      },
      {
        "slug": "il12b",
        "symbol": "IL12B",
        "name": "interleukin 12B",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/il12b"
      },
      {
        "slug": "il12rb1",
        "symbol": "IL12RB1",
        "name": "interleukin 12 receptor subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/il12rb1"
      },
      {
        "slug": "il23r",
        "symbol": "IL23R",
        "name": "interleukin 23 receptor",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/il23r"
      },
      {
        "slug": "irf8",
        "symbol": "IRF8",
        "name": "interferon regulatory factor 8",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/irf8"
      },
      {
        "slug": "isg15",
        "symbol": "ISG15",
        "name": "ISG15 ubiquitin like modifier",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/isg15"
      },
      {
        "slug": "stat1",
        "symbol": "STAT1",
        "name": "signal transducer and activator of transcription 1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/stat1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}