{
  "url": "https://dantelabs.com/fr/genes/nnt",
  "gene": {
    "slug": "nnt",
    "symbol": "NNT",
    "name": "nicotinamide nucleotide transhydrogenase",
    "hgnc": "HGNC:7863",
    "summary": null,
    "location": "5p12",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000112992",
    "entrezId": 23530,
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    "uniprot": [
      "Q13423"
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      "chrom": "5",
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      "strand": "+",
      "ensemblTranscript": "ENST00000344920.9",
      "refseqTranscript": "NM_182977.3",
      "ensemblProtein": "ENSP00000343873.4",
      "refseqProtein": "NP_892022.2",
      "exons": [
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        "start": 43609196,
        "end": 43704404
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
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      "end": 43707507,
      "strand": "+"
    },
    "neighbourhood": {
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      "start": 43155288,
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      "genes": [
        {
          "symbol": "ZBTB35",
          "ensemblId": "ENSG00000172262",
          "biotype": "protein_coding",
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          "end": 43192021,
          "strand": "+",
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        {
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          "ensemblId": "ENSG00000177453",
          "biotype": "protein_coding",
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          "end": 43280862,
          "strand": "+",
          "slug": "nim1k"
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        {
          "symbol": "HMGCS1",
          "ensemblId": "ENSG00000112972",
          "biotype": "protein_coding",
          "start": 43287470,
          "end": 43313512,
          "strand": "-",
          "slug": "hmgcs1"
        },
        {
          "symbol": "CCL28",
          "ensemblId": "ENSG00000151882",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "ccl28"
        },
        {
          "symbol": "TMEM267",
          "ensemblId": "ENSG00000151881",
          "biotype": "protein_coding",
          "start": 43444249,
          "end": 43484476,
          "strand": "-",
          "slug": "tmem267"
        },
        {
          "symbol": "C5orf34",
          "ensemblId": "ENSG00000172244",
          "biotype": "protein_coding",
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          "end": 43515148,
          "strand": "-",
          "slug": "c5orf34"
        },
        {
          "symbol": "PAIP1",
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          "start": 43526267,
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          "strand": "-",
          "slug": "paip1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "familial-glucocorticoid-deficiency",
        "name": "Déficit familial en glucocorticoïdes",
        "diseases": [
          {
            "mondoId": "MONDO:0008733",
            "name": "déficit familial en glucocorticoïdes",
            "genes": 4,
            "inheritance": "autosomal-recessive",
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/familial-glucocorticoid-deficiency"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-adrenocorticotropin-concentration",
        "name": "Abnormal circulating adrenocorticotropin concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-adrenocorticotropin-concentration"
      },
      {
        "slug": "azoospermia",
        "name": "Absent sperm in semen",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/azoospermia"
      },
      {
        "slug": "adrenal-insufficiency",
        "name": "Adrenal insufficiency",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/adrenal-insufficiency"
      },
      {
        "slug": "anorexia",
        "name": "Anorexia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anorexia"
      },
      {
        "slug": "autoimmunity",
        "name": "Autoimmunity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/autoimmunity"
      },
      {
        "slug": "chronic-fatigue",
        "name": "Chronic fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-fatigue"
      },
      {
        "slug": "hypoglycemic-coma",
        "name": "Coma caused by low blood sugar",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoglycemic-coma"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "decreased-circulating-dehydroepiandrosterone-concentration",
        "name": "Decreased circulating dehydroepiandrosterone concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-dehydroepiandrosterone-concentration"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "precocious-puberty",
        "name": "Early onset of puberty",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/precocious-puberty"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "recurrent-urinary-tract-infections",
        "name": "Frequent urinary tract infections",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections"
      },
      {
        "slug": "generalized-hyperpigmentation",
        "name": "Generalized hyperpigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-hyperpigmentation"
      },
      {
        "slug": "hypernatriuria",
        "name": "Hypernatriuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypernatriuria"
      },
      {
        "slug": "hypoglycemic-seizures",
        "name": "Hypoglycemic seizures",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoglycemic-seizures"
      },
      {
        "slug": "impaired-cortisol-response-to-insulin-stimulation-test",
        "name": "Impaired cortisol response to insulin stimulation test",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/impaired-cortisol-response-to-insulin-stimulation-test"
      },
      {
        "slug": "increased-circulating-acth-level",
        "name": "Increased circulating ACTH level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-acth-level"
      },
      {
        "slug": "hyperkalemia",
        "name": "Increased circulating potassium concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperkalemia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "episodic-abdominal-pain",
        "name": "Intermittent abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/episodic-abdominal-pain"
      },
      {
        "slug": "ketotic-hypoglycemia",
        "name": "Ketotic hypoglycemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ketotic-hypoglycemia"
      },
      {
        "slug": "leydig-cell-neoplasia",
        "name": "Leydig cell neoplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/leydig-cell-neoplasia"
      },
      {
        "slug": "renal-salt-wasting",
        "name": "Loss of salt in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-salt-wasting"
      },
      {
        "slug": "decreased-circulating-aldosterone-concentration",
        "name": "Low blood aldosterone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-circulating-aldosterone-concentration"
      },
      {
        "slug": "decreased-circulating-cortisol-level",
        "name": "Low blood cortisol level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-cortisol-level"
      },
      {
        "slug": "hypotension",
        "name": "Low blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotension"
      },
      {
        "slug": "hyponatremia",
        "name": "Low blood sodium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyponatremia"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "tetraplegia",
        "name": "Paralysis of all four limbs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/tetraplegia"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "tall-stature",
        "name": "Tall stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tall-stature"
      },
      {
        "slug": "testicular-adrenal-rest-tumor",
        "name": "Testicular adrenal rest tumor",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/testicular-adrenal-rest-tumor"
      },
      {
        "slug": "congenital-hypothyroidism",
        "name": "Underactive thyroid gland from birth",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congenital-hypothyroidism"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vomiting"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "mc2r",
        "symbol": "MC2R",
        "name": "melanocortin 2 receptor",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/mc2r"
      },
      {
        "slug": "mrap",
        "symbol": "MRAP",
        "name": "melanocortin 2 receptor accessory protein",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/mrap"
      },
      {
        "slug": "txnrd2",
        "symbol": "TXNRD2",
        "name": "thioredoxin reductase 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/txnrd2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}