{
  "url": "https://dantelabs.com/it/genes/ptpmt1",
  "gene": {
    "slug": "ptpmt1",
    "symbol": "PTPMT1",
    "name": "protein tyrosine phosphatase mitochondrial 1",
    "hgnc": "HGNC:26965",
    "summary": null,
    "location": "11p11.2",
    "locusType": "gene with protein product",
    "aliases": [
      "PLIP",
      "DUSP23",
      "MOSP"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000110536",
    "entrezId": 114971,
    "omim": [
      "609538"
    ],
    "uniprot": [
      "Q8WUK0"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 47565599,
      "end": 47573461,
      "strand": "+",
      "ensemblTranscript": "ENST00000326674.10",
      "refseqTranscript": "NM_175732.3",
      "ensemblProtein": "ENSP00000325958.9",
      "refseqProtein": "NP_783859.1",
      "exons": [
        {
          "start": 47565599,
          "end": 47565796
        },
        {
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          "end": 47565986
        },
        {
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        },
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        }
      ],
      "cds": {
        "start": 47565623,
        "end": 47571629
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 47586982,
      "end": 47595013,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 47069530,
      "end": 48069529,
      "genes": [
        {
          "symbol": "CSTPP1",
          "ensemblId": "ENSG00000149179",
          "biotype": "protein_coding",
          "start": 46936689,
          "end": 47165535,
          "strand": "+",
          "slug": "cstpp1"
        },
        {
          "symbol": "ARFGAP2",
          "ensemblId": "ENSG00000149182",
          "biotype": "protein_coding",
          "start": 47135667,
          "end": 47177474,
          "strand": "-",
          "slug": "arfgap2"
        },
        {
          "symbol": "PACSIN3",
          "ensemblId": "ENSG00000165912",
          "biotype": "protein_coding",
          "start": 47177511,
          "end": 47187487,
          "strand": "-",
          "slug": "pacsin3"
        },
        {
          "symbol": "DDB2",
          "ensemblId": "ENSG00000134574",
          "biotype": "protein_coding",
          "start": 47214435,
          "end": 47240555,
          "strand": "+",
          "slug": "ddb2"
        },
        {
          "symbol": "ACP2",
          "ensemblId": "ENSG00000134575",
          "biotype": "protein_coding",
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          "end": 47249288,
          "strand": "-",
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        },
        {
          "symbol": "NR1H3",
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          "biotype": "protein_coding",
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          "end": 47269131,
          "strand": "+",
          "slug": "nr1h3"
        },
        {
          "symbol": "MADD",
          "ensemblId": "ENSG00000110514",
          "biotype": "protein_coding",
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          "end": 47330038,
          "strand": "+",
          "slug": "madd"
        },
        {
          "symbol": "MYBPC3",
          "ensemblId": "ENSG00000134571",
          "biotype": "protein_coding",
          "start": 47331406,
          "end": 47352702,
          "strand": "-",
          "slug": "mybpc3"
        },
        {
          "symbol": "SPI1",
          "ensemblId": "ENSG00000066336",
          "biotype": "protein_coding",
          "start": 47354860,
          "end": 47409369,
          "strand": "-",
          "slug": "spi1"
        },
        {
          "symbol": "SLC39A13",
          "ensemblId": "ENSG00000165915",
          "biotype": "protein_coding",
          "start": 47407132,
          "end": 47416587,
          "strand": "+",
          "slug": "slc39a13"
        },
        {
          "symbol": "PSMC3",
          "ensemblId": "ENSG00000165916",
          "biotype": "protein_coding",
          "start": 47418765,
          "end": 47426488,
          "strand": "-",
          "slug": "psmc3"
        },
        {
          "symbol": "RAPSN",
          "ensemblId": "ENSG00000165917",
          "biotype": "protein_coding",
          "start": 47436816,
          "end": 47449192,
          "strand": "-",
          "slug": "rapsn"
        },
        {
          "symbol": "CELF1",
          "ensemblId": "ENSG00000149187",
          "biotype": "protein_coding",
          "start": 47465933,
          "end": 47565569,
          "strand": "-",
          "slug": "celf1"
        },
        {
          "symbol": "NDUFS3",
          "ensemblId": "ENSG00000213619",
          "biotype": "protein_coding",
          "start": 47565336,
          "end": 47584565,
          "strand": "+",
          "slug": "ndufs3"
        },
        {
          "symbol": "KBTBD4",
          "ensemblId": "ENSG00000123444",
          "biotype": "protein_coding",
          "start": 47572196,
          "end": 47578982,
          "strand": "-",
          "slug": "kbtbd4"
        },
        {
          "symbol": "FAM180B",
          "ensemblId": "ENSG00000196666",
          "biotype": "protein_coding",
          "start": 47586207,
          "end": 47589195,
          "strand": "+",
          "slug": "fam180b"
        },
        {
          "symbol": "C1QTNF4",
          "ensemblId": "ENSG00000172247",
          "biotype": "protein_coding",
          "start": 47589666,
          "end": 47595642,
          "strand": "-",
          "slug": "c1qtnf4"
        },
        {
          "symbol": "MTCH2",
          "ensemblId": "ENSG00000109919",
          "biotype": "protein_coding",
          "start": 47604339,
          "end": 47642698,
          "strand": "-",
          "slug": "mtch2"
        },
        {
          "symbol": "AGBL2",
          "ensemblId": "ENSG00000165923",
          "biotype": "protein_coding",
          "start": 47659591,
          "end": 47715389,
          "strand": "-",
          "slug": "agbl2"
        },
        {
          "symbol": "FNBP4",
          "ensemblId": "ENSG00000109920",
          "biotype": "protein_coding",
          "start": 47716494,
          "end": 47767460,
          "strand": "-",
          "slug": "fnbp4"
        },
        {
          "symbol": "NUP160",
          "ensemblId": "ENSG00000030066",
          "biotype": "protein_coding",
          "start": 47777872,
          "end": 47848561,
          "strand": "-",
          "slug": "nup160"
        },
        {
          "symbol": "PTPRJ",
          "ensemblId": "ENSG00000149177",
          "biotype": "protein_coding",
          "start": 47980414,
          "end": 48170839,
          "strand": "+",
          "slug": "ptprj"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "bilateral-tonic-clonic-seizure-with-generalized-onset",
        "name": "Bilateral tonic-clonic seizure with generalized onset",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure-with-generalized-onset"
      },
      {
        "slug": "bitemporal-hollowing",
        "name": "Bitemporal hollowing",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bitemporal-hollowing"
      },
      {
        "slug": "bulbar-signs",
        "name": "Bulbar signs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bulbar-signs"
      },
      {
        "slug": "caesarean-section",
        "name": "Caesarean section",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/caesarean-section"
      },
      {
        "slug": "cns-hypomyelination",
        "name": "CNS hypomyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cns-hypomyelination"
      },
      {
        "slug": "cerebral-cortical-atrophy",
        "name": "Decrease in size of the outer layer of the brain due to loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-i",
        "name": "Decreased activity of mitochondrial complex I",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-i"
      },
      {
        "slug": "deep-cerebral-white-matter-hyperintensities",
        "name": "Deep cerebral white matter hyperintensities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/deep-cerebral-white-matter-hyperintensities"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "episodic-vomiting",
        "name": "Episodic vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/episodic-vomiting"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "fetal-distress",
        "name": "Fetal distress",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fetal-distress"
      },
      {
        "slug": "generalized-onset-seizure",
        "name": "Generalized-onset seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-onset-seizure"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "hypoplasia-of-the-pons",
        "name": "Hypoplasia of the pons",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-pons"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "macrotia",
        "name": "Large ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/macrotia"
      },
      {
        "slug": "lateral-ventricle-dilatation",
        "name": "Lateral ventricle dilatation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lateral-ventricle-dilatation"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "lower-limb-spasticity",
        "name": "Lower limb spasticity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lower-limb-spasticity"
      },
      {
        "slug": "mild-global-developmental-delay",
        "name": "Mild global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mild-global-developmental-delay"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "slug": "exotropia",
        "name": "Outward facing eye ball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/exotropia"
      },
      {
        "slug": "periventricular-white-matter-hyperintensities",
        "name": "Periventricular white matter hyperintensities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/periventricular-white-matter-hyperintensities"
      },
      {
        "slug": "pectus-carinatum",
        "name": "Pigeon chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pectus-carinatum"
      },
      {
        "slug": "reduced-eye-contact",
        "name": "Poor eye contact",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-eye-contact"
      },
      {
        "slug": "prominent-nose",
        "name": "Prominent nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prominent-nose"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "severe-global-developmental-delay",
        "name": "Severe global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/severe-global-developmental-delay"
      },
      {
        "slug": "sloping-forehead",
        "name": "Sloping forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sloping-forehead"
      },
      {
        "slug": "tetraparesis",
        "name": "Tetraparesis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tetraparesis"
      },
      {
        "slug": "thin-corpus-callosum",
        "name": "Thin corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thin-corpus-callosum"
      },
      {
        "slug": "typical-absence-seizure",
        "name": "Typical absence seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/typical-absence-seizure"
      },
      {
        "slug": "upslanted-palpebral-fissure",
        "name": "Upward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}