{
  "url": "https://dantelabs.com/et/genes/en1",
  "gene": {
    "slug": "en1",
    "symbol": "EN1",
    "name": "engrailed homeobox 1",
    "hgnc": "HGNC:3342",
    "summary": null,
    "location": "2q14.2",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000163064",
    "entrezId": 2019,
    "omim": [
      "131290"
    ],
    "uniprot": [
      "Q05925"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 118842171,
      "end": 118847648,
      "strand": "-",
      "ensemblTranscript": "ENST00000295206.7",
      "refseqTranscript": "NM_001426.4",
      "ensemblProtein": "ENSP00000295206.5",
      "refseqProtein": "NP_001417.3",
      "exons": [
        {
          "start": 118842171,
          "end": 118843254
        },
        {
          "start": 118846306,
          "end": 118847648
        }
      ],
      "cds": {
        "start": 118842938,
        "end": 118847167
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 119599747,
      "end": 119605254,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 118344910,
      "end": 119344909,
      "genes": [
        {
          "symbol": "MARCO",
          "ensemblId": "ENSG00000019169",
          "biotype": "protein_coding",
          "start": 118942172,
          "end": 118994664,
          "strand": "+",
          "slug": "marco"
        },
        {
          "symbol": "C1QL2",
          "ensemblId": "ENSG00000144119",
          "biotype": "protein_coding",
          "start": 119156243,
          "end": 119158930,
          "strand": "-",
          "slug": "c1ql2"
        },
        {
          "symbol": "STEAP3",
          "ensemblId": "ENSG00000115107",
          "biotype": "protein_coding",
          "start": 119222447,
          "end": 119265652,
          "strand": "+",
          "slug": "steap3"
        },
        {
          "symbol": "C2orf76",
          "ensemblId": "ENSG00000186132",
          "biotype": "protein_coding",
          "start": 119299439,
          "end": 119367188,
          "strand": "-",
          "slug": "c2orf76"
        }
      ],
      "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": "obligate",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "aplasia-of-the-3rd-finger",
        "name": "Absent middle finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/aplasia-of-the-3rd-finger"
      },
      {
        "slug": "osteomyelitis",
        "name": "Bone infection",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/osteomyelitis"
      },
      {
        "slug": "cerebellar-agenesis",
        "name": "Cerebellar agenesis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-agenesis"
      },
      {
        "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": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "focal-tonic-seizure",
        "name": "Focal tonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/focal-tonic-seizure"
      },
      {
        "slug": "recurrent-urinary-tract-infections",
        "name": "Frequent urinary tract infections",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections"
      },
      {
        "slug": "toe-syndactyly",
        "name": "Fused toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/toe-syndactyly"
      },
      {
        "slug": "gastrojejunal-tube-feeding-in-infancy",
        "name": "Gastrojejunal tube feeding in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gastrojejunal-tube-feeding-in-infancy"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "hydronephrosis",
        "name": "Hydronephrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hydronephrosis"
      },
      {
        "slug": "neurogenic-bladder",
        "name": "Lack of bladder control due to nervous system injury",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/neurogenic-bladder"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "persistent-head-lag",
        "name": "Persistent head lag",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/persistent-head-lag"
      },
      {
        "slug": "hypoplasia-of-the-brainstem",
        "name": "Small brainstem",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-brainstem"
      },
      {
        "slug": "talar-aplasia",
        "name": "Talar aplasia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/talar-aplasia"
      },
      {
        "slug": "triangular-tibia",
        "name": "Triangular tibia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/triangular-tibia"
      },
      {
        "slug": "umbilical-hernia",
        "name": "Umbilical hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/umbilical-hernia"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}