{
  "url": "https://dantelabs.com/hu/genes/vsx1",
  "gene": {
    "slug": "vsx1",
    "symbol": "VSX1",
    "name": "visual system homeobox 1",
    "hgnc": "HGNC:12723",
    "summary": null,
    "location": "20p11.21",
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      "PPCD1"
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    "previousSymbols": [
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    "entrezId": 30813,
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    "uniprot": [
      "Q9NZR4"
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      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
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      "strand": "-",
      "ensemblTranscript": "ENST00000376709.9",
      "refseqTranscript": "NM_014588.6",
      "ensemblProtein": "ENSP00000365899.3",
      "refseqProtein": "NP_055403.2",
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      "cds": {
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        "end": 25082096
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    },
    "grch37": {
      "build": "GRCh37",
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      "strand": "-"
    },
    "neighbourhood": {
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      "genes": [
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          "symbol": "SYNDIG1",
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          "biotype": "protein_coding",
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          "end": 24666616,
          "strand": "+",
          "slug": "syndig1"
        },
        {
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          "strand": "+",
          "slug": "cst7"
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        {
          "symbol": "APMAP",
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          "biotype": "protein_coding",
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          "strand": "-",
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        },
        {
          "symbol": "ACSS1",
          "ensemblId": "ENSG00000154930",
          "biotype": "protein_coding",
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          "end": 25058980,
          "strand": "-",
          "slug": "acss1"
        },
        {
          "symbol": "ENTPD6",
          "ensemblId": "ENSG00000197586",
          "biotype": "protein_coding",
          "start": 25195693,
          "end": 25228075,
          "strand": "+",
          "slug": "entpd6"
        },
        {
          "symbol": "PYGB",
          "ensemblId": "ENSG00000100994",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "ABHD12",
          "ensemblId": "ENSG00000100997",
          "biotype": "protein_coding",
          "start": 25294742,
          "end": 25390922,
          "strand": "-",
          "slug": "abhd12"
        },
        {
          "symbol": "GINS1",
          "ensemblId": "ENSG00000101003",
          "biotype": "protein_coding",
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          "end": 25452700,
          "strand": "+",
          "slug": "gins1"
        },
        {
          "symbol": "NINL",
          "ensemblId": "ENSG00000101004",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "ninl"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-descemet-membrane-morphology",
        "name": "Abnormal Descemet membrane morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-descemet-membrane-morphology"
      },
      {
        "slug": "abnormal-electroretinogram",
        "name": "Abnormal electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/abnormal-electroretinogram"
      },
      {
        "slug": "lacrimation-abnormality",
        "name": "Abnormality of tear production",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/lacrimation-abnormality"
      },
      {
        "slug": "abnormal-pinna-morphology",
        "name": "Abnormally shaped ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-pinna-morphology"
      },
      {
        "slug": "anterior-synechiae-of-the-anterior-chamber",
        "name": "Anterior synechiae of the anterior chamber",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anterior-synechiae-of-the-anterior-chamber"
      },
      {
        "slug": "astigmatism",
        "name": "Astigmatism",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/astigmatism"
      },
      {
        "slug": "band-keratopathy",
        "name": "Band keratopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/band-keratopathy"
      },
      {
        "slug": "blurred-vision",
        "name": "Blurred vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/blurred-vision"
      },
      {
        "slug": "keratoconus",
        "name": "Bulging cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/keratoconus"
      },
      {
        "slug": "chorioretinal-atrophy",
        "name": "Chorioretinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/chorioretinal-atrophy"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "corneal-stromal-edema",
        "name": "Corneal stromal edema",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/corneal-stromal-edema"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "ectopia-pupillae",
        "name": "Displaced pupil",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ectopia-pupillae"
      },
      {
        "slug": "vertigo",
        "name": "Dizziness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vertigo"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "ocular-pain",
        "name": "Eye pain",
        "systems": [
          "abnormality-of-the-eye",
          "constitutional-symptom"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ocular-pain"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "ocular-hypertension",
        "name": "High eye pressure",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ocular-hypertension"
      },
      {
        "slug": "increased-corneal-curvature",
        "name": "Increased corneal curvature",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-corneal-curvature"
      },
      {
        "slug": "esotropia",
        "name": "Inward turning cross eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/esotropia"
      },
      {
        "slug": "amblyopia",
        "name": "Lazy eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/amblyopia"
      },
      {
        "slug": "nasofrontal-encephalocele",
        "name": "Nasofrontal encephalocele",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nasofrontal-encephalocele"
      },
      {
        "slug": "ocular-anterior-segment-dysgenesis",
        "name": "Ocular anterior segment dysgenesis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/ocular-anterior-segment-dysgenesis"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "slug": "posterior-fossa-cyst",
        "name": "Posterior fossa cyst",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/posterior-fossa-cyst"
      },
      {
        "slug": "reduced-number-of-corneal-endothelial-cells",
        "name": "Reduced number of corneal endothelial cells",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-number-of-corneal-endothelial-cells"
      },
      {
        "slug": "severe-sensorineural-hearing-impairment",
        "name": "Severe sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/severe-sensorineural-hearing-impairment"
      },
      {
        "slug": "small-pituitary-gland",
        "name": "Small pituitary gland",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/small-pituitary-gland"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "hypoplasia-of-the-iris",
        "name": "Underdeveloped iris",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-iris"
      },
      {
        "slug": "uveal-ectropion",
        "name": "Uveal ectropion",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/uveal-ectropion"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "very-low-visual-acuity",
        "name": "Very low visual acuity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/very-low-visual-acuity"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}