{
  "url": "https://dantelabs.com/sv/genes/pax1",
  "gene": {
    "slug": "pax1",
    "symbol": "PAX1",
    "name": "paired box 1",
    "hgnc": "HGNC:8615",
    "summary": null,
    "location": "20p11.22",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
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    "entrezId": 5075,
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    "uniprot": [
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    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 21705664,
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      "strand": "+",
      "ensemblTranscript": "ENST00000613128.5",
      "refseqTranscript": "NM_001257096.2",
      "ensemblProtein": "ENSP00000481334.1",
      "refseqProtein": "NP_001244025.1",
      "exons": [
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      ],
      "cds": {
        "start": 21705713,
        "end": 21714562
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "20",
      "start": 21686297,
      "end": 21696620,
      "strand": "+"
    },
    "neighbourhood": {
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      "start": 21212073,
      "end": 22212072,
      "genes": [
        {
          "symbol": "KIZ",
          "ensemblId": "ENSG00000088970",
          "biotype": "protein_coding",
          "start": 21125975,
          "end": 21273506,
          "strand": "+",
          "slug": "kiz"
        },
        {
          "symbol": "XRN2",
          "ensemblId": "ENSG00000088930",
          "biotype": "protein_coding",
          "start": 21303281,
          "end": 21390251,
          "strand": "+",
          "slug": "xrn2"
        },
        {
          "symbol": "NKX2-4",
          "ensemblId": "ENSG00000125816",
          "biotype": "protein_coding",
          "start": 21395152,
          "end": 21397526,
          "strand": "-",
          "slug": "nkx2-4"
        },
        {
          "symbol": "NKX2-2",
          "ensemblId": "ENSG00000125820",
          "biotype": "protein_coding",
          "start": 21511017,
          "end": 21514070,
          "strand": "-",
          "slug": "nkx2-2"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "alacrima",
        "name": "Absence of tears in the eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/alacrima"
      },
      {
        "slug": "dental-malocclusion",
        "name": "Bad bite",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dental-malocclusion"
      },
      {
        "slug": "blue-sclerae",
        "name": "Blue outer white part of eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blue-sclerae"
      },
      {
        "slug": "cupped-ear",
        "name": "Cupped ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cupped-ear"
      },
      {
        "slug": "clinodactyly",
        "name": "Curvature of digit",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clinodactyly"
      },
      {
        "slug": "renal-cyst",
        "name": "Cystic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-cyst"
      },
      {
        "slug": "carious-teeth",
        "name": "Dental cavities",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/carious-teeth"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "moderate-intellectual-disability",
        "name": "IQ between 34 and 49",
        "systems": [
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        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/moderate-intellectual-disability"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "mastoiditis",
        "name": "Mastoiditis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mastoiditis"
      },
      {
        "slug": "mixed-hearing-impairment",
        "name": "Mixed hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mixed-hearing-impairment"
      },
      {
        "slug": "lacrimal-duct-stenosis",
        "name": "Narrowing of the tear duct",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lacrimal-duct-stenosis"
      },
      {
        "slug": "periorbital-dermoid-cyst",
        "name": "Periorbital dermoid cyst",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/periorbital-dermoid-cyst"
      },
      {
        "slug": "conjunctivitis",
        "name": "Pink eye",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/conjunctivitis"
      },
      {
        "slug": "preauricular-pit",
        "name": "Pit in front of the ear",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/preauricular-pit"
      },
      {
        "slug": "down-sloping-shoulder",
        "name": "Rounded shoulders",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/down-sloping-shoulder"
      },
      {
        "slug": "microretrognathia",
        "name": "Small retruded chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microretrognathia"
      },
      {
        "slug": "tapered-finger",
        "name": "Tapered finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tapered-finger"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "slug": "scapular-winging",
        "name": "Winged shoulder blade",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scapular-winging"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}