{
  "url": "https://dantelabs.com/tr/genes/skor2",
  "gene": {
    "slug": "skor2",
    "symbol": "SKOR2",
    "name": "SKI family transcriptional corepressor 2",
    "hgnc": "HGNC:32695",
    "summary": null,
    "location": "18q21.1",
    "locusType": "gene with protein product",
    "aliases": [
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      "FUSSEL18",
      "Fussel-18"
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    "previousSymbols": [],
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    "entrezId": 652991,
    "omim": [
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    "uniprot": [
      "Q2VWA4"
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      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "18",
      "start": 47206169,
      "end": 47251660,
      "strand": "-",
      "ensemblTranscript": "ENST00000425639.3",
      "refseqTranscript": "NM_001278063.4",
      "ensemblProtein": "ENSP00000414750.3",
      "refseqProtein": "NP_001264992.1",
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    },
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      "end": 44775554,
      "strand": "-"
    },
    "neighbourhood": {
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      "genes": [
        {
          "symbol": "ST8SIA5",
          "ensemblId": "ENSG00000101638",
          "biotype": "protein_coding",
          "start": 46667821,
          "end": 46759257,
          "strand": "-",
          "slug": "st8sia5"
        },
        {
          "symbol": "PIAS2",
          "ensemblId": "ENSG00000078043",
          "biotype": "protein_coding",
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          "end": 46920160,
          "strand": "-",
          "slug": "pias2"
        },
        {
          "symbol": "KATNAL2",
          "ensemblId": "ENSG00000167216",
          "biotype": "protein_coding",
          "start": 46917180,
          "end": 47103478,
          "strand": "+",
          "slug": "katnal2"
        },
        {
          "symbol": "ELOA2",
          "ensemblId": "ENSG00000206181",
          "biotype": "protein_coding",
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          "strand": "-",
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        },
        {
          "symbol": "HDHD2",
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          "end": 47151106,
          "strand": "-",
          "slug": "hdhd2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000267228",
          "biotype": "protein_coding",
          "start": 47108188,
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          "strand": "-"
        },
        {
          "symbol": "IER3IP1",
          "ensemblId": "ENSG00000134049",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "ier3ip1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "cerebellar-dysplasia",
        "name": "Cerebellar dysplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-dysplasia"
      },
      {
        "slug": "clumsiness",
        "name": "Clumsiness",
        "systems": [
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        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clumsiness"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
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        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "congenital-hip-dislocation",
        "name": "Dislocated hip since birth",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/congenital-hip-dislocation"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "head-titubation",
        "name": "Head titubation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/head-titubation"
      },
      {
        "slug": "hypoplasia-of-the-pons",
        "name": "Hypoplasia of the pons",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-pons"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "retrograde-ejaculation",
        "name": "Retrograde ejaculation",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/retrograde-ejaculation"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "severe-periodontitis",
        "name": "Severe gum disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-periodontitis"
      },
      {
        "slug": "cerebellar-hypoplasia",
        "name": "Small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "slug": "small-posterior-fossa",
        "name": "Small posterior fossa",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/small-posterior-fossa"
      },
      {
        "slug": "osteomalacia",
        "name": "Softening of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/osteomalacia"
      },
      {
        "slug": "specific-learning-disability",
        "name": "Specific learning disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/specific-learning-disability"
      },
      {
        "slug": "thick-corpus-callosum",
        "name": "Thick corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thick-corpus-callosum"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}