{
  "url": "https://dantelabs.com/et/genes/park7",
  "gene": {
    "slug": "park7",
    "symbol": "PARK7",
    "name": "Parkinsonism associated deglycase",
    "hgnc": "HGNC:16369",
    "summary": null,
    "location": "1p36.23",
    "locusType": "gene with protein product",
    "aliases": [
      "DJ-1",
      "DJ1",
      "GATD2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000116288",
    "entrezId": 11315,
    "omim": [
      "602533"
    ],
    "uniprot": [
      "Q99497"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 7961711,
      "end": 7985505,
      "strand": "+",
      "ensemblTranscript": "ENST00000338639.10",
      "refseqTranscript": "NM_007262.5",
      "ensemblProtein": "ENSP00000340278.5",
      "refseqProtein": "NP_009193.2",
      "exons": [
        {
          "start": 7961711,
          "end": 7961793
        },
        {
          "start": 7962763,
          "end": 7962875
        },
        {
          "start": 7965324,
          "end": 7965425
        },
        {
          "start": 7969345,
          "end": 7969404
        },
        {
          "start": 7970894,
          "end": 7970963
        },
        {
          "start": 7977652,
          "end": 7977738
        },
        {
          "start": 7984894,
          "end": 7985505
        }
      ],
      "cds": {
        "start": 7962786,
        "end": 7985054
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 8014351,
      "end": 8045565,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 7473608,
      "end": 8473607,
      "genes": [
        {
          "symbol": "CAMTA1",
          "ensemblId": "ENSG00000171735",
          "biotype": "protein_coding",
          "start": 6785432,
          "end": 7769706,
          "strand": "+",
          "slug": "camta1"
        },
        {
          "symbol": "VAMP3",
          "ensemblId": "ENSG00000049245",
          "biotype": "protein_coding",
          "start": 7771264,
          "end": 7781447,
          "strand": "+",
          "slug": "vamp3"
        },
        {
          "symbol": "PER3",
          "ensemblId": "ENSG00000049246",
          "biotype": "protein_coding",
          "start": 7784183,
          "end": 7845181,
          "strand": "+",
          "slug": "per3"
        },
        {
          "symbol": "UTS2",
          "ensemblId": "ENSG00000049247",
          "biotype": "protein_coding",
          "start": 7843008,
          "end": 7853512,
          "strand": "-",
          "slug": "uts2"
        },
        {
          "symbol": "TNFRSF9",
          "ensemblId": "ENSG00000049249",
          "biotype": "protein_coding",
          "start": 7915871,
          "end": 7943165,
          "strand": "-",
          "slug": "tnfrsf9"
        },
        {
          "symbol": "ERRFI1",
          "ensemblId": "ENSG00000116285",
          "biotype": "protein_coding",
          "start": 8003196,
          "end": 8026318,
          "strand": "-",
          "slug": "errfi1"
        },
        {
          "symbol": "SLC45A1",
          "ensemblId": "ENSG00000162426",
          "biotype": "protein_coding",
          "start": 8318081,
          "end": 8344296,
          "strand": "+",
          "slug": "slc45a1"
        },
        {
          "symbol": "RERE",
          "ensemblId": "ENSG00000142599",
          "biotype": "protein_coding",
          "start": 8352397,
          "end": 8848921,
          "strand": "-",
          "slug": "rere"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "parkinson-disease",
        "name": "Parkinsonova tõbi",
        "diseases": [
          {
            "mondoId": "MONDO:0005180",
            "name": "Parkinsonova tõbi",
            "genes": 15,
            "inheritance": null,
            "description": "Kesknärvisüsteemi progresseeruv degeneratiivne haigus, mida iseloomustab dopamiini tootvate neuronite kadu substantia nigras ning Lewy kehakeste esinemine substantia nigras ja locus coeruleus'es. Haiguse tunnused ja sümptomid hõlmavad treemorit, mis on kõige väljendunum puhkeolekus, lihaste jäikust, vabatahtlike liigutuste aeglustumist, kalduvust tagasi kukkuda ning maskilaadset näoilmet.",
            "management": "LRRK2 kinaasi inhibitorite uuringud, substraadi vähendamise ravi GBA variantide korral, α-sünukleiini suunatud lähenemised, dopaminergilised ravimid, levodopa",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/et/conditions/parkinson-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-autonomic-nervous-system-physiology",
        "name": "Abnormal autonomic nervous system physiology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-autonomic-nervous-system-physiology"
      },
      {
        "slug": "color-vision-defect",
        "name": "Abnormal color vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/color-vision-defect"
      },
      {
        "slug": "gait-imbalance",
        "name": "Abnormality of balance",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gait-imbalance"
      },
      {
        "slug": "agitation",
        "name": "Agitation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/agitation"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "postural-instability",
        "name": "Balance impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/postural-instability"
      },
      {
        "slug": "brisk-reflexes",
        "name": "Brisk reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/brisk-reflexes"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "gastroparesis",
        "name": "Delayed gastric emptying",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastroparesis"
      },
      {
        "slug": "dementia",
        "name": "Dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dementia"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "insomnia",
        "name": "Difficulty staying or falling asleep",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/insomnia"
      },
      {
        "slug": "dyskinesia",
        "name": "Disorder of involuntary muscle movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dyskinesia"
      },
      {
        "slug": "diplopia",
        "name": "Double vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/diplopia"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "blepharospasm",
        "name": "Eyelid spasm",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blepharospasm"
      },
      {
        "slug": "female-sexual-dysfunction",
        "name": "Female sexual dysfunction",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/female-sexual-dysfunction"
      },
      {
        "slug": "frontal-lobe-dementia",
        "name": "Frontal lobe dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/frontal-lobe-dementia"
      },
      {
        "slug": "hallucinations",
        "name": "Hallucinations",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hallucinations"
      },
      {
        "slug": "hyposmia",
        "name": "Hyposmia",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyposmia"
      },
      {
        "slug": "impulsivity",
        "name": "Impulsivity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/impulsivity"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "apathy",
        "name": "Lack of feeling, emotion, interest",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/apathy"
      },
      {
        "slug": "leg-dystonia",
        "name": "Leg dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/leg-dystonia"
      },
      {
        "slug": "male-sexual-dysfunction",
        "name": "Male sexual dysfunction",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/male-sexual-dysfunction"
      },
      {
        "slug": "muscle-spasm",
        "name": "Muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/muscle-spasm"
      },
      {
        "slug": "nausea",
        "name": "Nausea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nausea"
      },
      {
        "slug": "panic-attack",
        "name": "Panic attack",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/panic-attack"
      },
      {
        "slug": "parkinsonism-with-favorable-response-to-dopaminergic-medication",
        "name": "Parkinsonism with favorable response to dopaminergic medication",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/parkinsonism-with-favorable-response-to-dopaminergic-medication"
      },
      {
        "slug": "reduced-social-responsiveness",
        "name": "Poor social interactions",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-social-responsiveness"
      },
      {
        "slug": "postural-tremor",
        "name": "Postural tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/postural-tremor"
      },
      {
        "slug": "psychotic-episodes",
        "name": "Psychotic episodes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/psychotic-episodes"
      },
      {
        "slug": "resting-tremor",
        "name": "Resting tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/resting-tremor"
      },
      {
        "slug": "rigidity",
        "name": "Rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/rigidity"
      },
      {
        "slug": "short-attention-span",
        "name": "Short attention span",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-attention-span"
      },
      {
        "slug": "bradykinesia",
        "name": "Slow movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bradykinesia"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "restless-legs",
        "name": "Willis-Ekbom disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/restless-legs"
      }
    ],
    "related": [
      {
        "slug": "atp13a2",
        "symbol": "ATP13A2",
        "name": "ATPase cation transporting 13A2",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/atp13a2"
      },
      {
        "slug": "chchd2",
        "symbol": "CHCHD2",
        "name": "coiled-coil-helix-coiled-coil-helix domain containing 2",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/chchd2"
      },
      {
        "slug": "dnajc6",
        "symbol": "DNAJC6",
        "name": "DnaJ heat shock protein family (Hsp40) member C6",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/dnajc6"
      },
      {
        "slug": "fbxo7",
        "symbol": "FBXO7",
        "name": "F-box protein 7",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/fbxo7"
      },
      {
        "slug": "gba1",
        "symbol": "GBA1",
        "name": "glucosylceramidase beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/gba1"
      },
      {
        "slug": "lrrk2",
        "symbol": "LRRK2",
        "name": "leucine rich repeat kinase 2",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/lrrk2"
      },
      {
        "slug": "mapt",
        "symbol": "MAPT",
        "name": "microtubule associated protein tau",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/mapt"
      },
      {
        "slug": "pink1",
        "symbol": "PINK1",
        "name": "PTEN induced kinase 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/pink1"
      },
      {
        "slug": "pla2g6",
        "symbol": "PLA2G6",
        "name": "phospholipase A2 group VI",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/pla2g6"
      },
      {
        "slug": "prkn",
        "symbol": "PRKN",
        "name": "parkin RBR E3 ubiquitin protein ligase",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/prkn"
      },
      {
        "slug": "snca",
        "symbol": "SNCA",
        "name": "synuclein alpha",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/snca"
      },
      {
        "slug": "synj1",
        "symbol": "SYNJ1",
        "name": "synaptojanin 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/synj1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}