{
  "url": "https://dantelabs.com/hu/genes/mt-ti",
  "gene": {
    "slug": "mt-ti",
    "symbol": "MT-TI",
    "name": "mitochondrially encoded tRNA-Ile (AUU/C)",
    "hgnc": "HGNC:7488",
    "summary": null,
    "location": "mitochondria",
    "locusType": "RNA, transfer",
    "aliases": [
      "trnI"
    ],
    "previousSymbols": [
      "MTTI"
    ],
    "ensemblId": "ENSG00000210100",
    "entrezId": 4565,
    "omim": [
      "590045"
    ],
    "uniprot": [],
    "model": null,
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "MT",
      "start": 4263,
      "end": 4331,
      "strand": "+"
    },
    "neighbourhood": null,
    "reports": [
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Hypertrophic Cardiomyopathy",
        "diseases": [
          {
            "mondoId": "MONDO:0005045",
            "name": "Hypertrophic Cardiomyopathy",
            "genes": 62,
            "inheritance": "autosomal-dominant",
            "description": "A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.",
            "management": "Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling",
            "evidence": {
              "gencc": [],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "mitochondrial"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/hypertrophic-cardiomyopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "generalized-myoclonic-seizure",
        "name": "Generalized myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-myoclonic-seizure"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "increased-circulating-pyruvate-concentration",
        "name": "Increased circulating pyruvate concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/increased-circulating-pyruvate-concentration"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "ragged-red-muscle-fibers",
        "name": "Ragged-red muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/ragged-red-muscle-fibers"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      }
    ],
    "related": [
      {
        "slug": "acadvl",
        "symbol": "ACADVL",
        "name": "acyl-CoA dehydrogenase very long chain",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/acadvl"
      },
      {
        "slug": "actc1",
        "symbol": "ACTC1",
        "name": "actin alpha cardiac muscle 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/actc1"
      },
      {
        "slug": "alpk3",
        "symbol": "ALPK3",
        "name": "alpha kinase 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/alpk3"
      },
      {
        "slug": "braf",
        "symbol": "BRAF",
        "name": "B-Raf proto-oncogene, serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/braf"
      },
      {
        "slug": "cdkn1c",
        "symbol": "CDKN1C",
        "name": "cyclin dependent kinase inhibitor 1C",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cdkn1c"
      },
      {
        "slug": "csrp3",
        "symbol": "CSRP3",
        "name": "cysteine and glycine rich protein 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/csrp3"
      },
      {
        "slug": "dhh",
        "symbol": "DHH",
        "name": "desert hedgehog signaling molecule",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/dhh"
      },
      {
        "slug": "dhx37",
        "symbol": "DHX37",
        "name": "DEAH-box helicase 37",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/dhx37"
      },
      {
        "slug": "dmpk",
        "symbol": "DMPK",
        "name": "DM1 protein kinase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/dmpk"
      },
      {
        "slug": "erf",
        "symbol": "ERF",
        "name": "ETS2 repressor factor",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/erf"
      },
      {
        "slug": "etfa",
        "symbol": "ETFA",
        "name": "electron transfer flavoprotein subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/etfa"
      },
      {
        "slug": "etfb",
        "symbol": "ETFB",
        "name": "electron transfer flavoprotein subunit beta",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/etfb"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "tRna"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}