{
  "url": "https://dantelabs.com/ko/genes/prrx1",
  "gene": {
    "slug": "prrx1",
    "symbol": "PRRX1",
    "name": "paired related homeobox 1",
    "hgnc": "HGNC:9142",
    "summary": null,
    "location": "1q24.2",
    "locusType": "gene with protein product",
    "aliases": [
      "PHOX1"
    ],
    "previousSymbols": [
      "PMX1"
    ],
    "ensemblId": "ENSG00000116132",
    "entrezId": 5396,
    "omim": [
      "167420"
    ],
    "uniprot": [
      "P54821"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 170664131,
      "end": 170739421,
      "strand": "+",
      "ensemblTranscript": "ENST00000239461.11",
      "refseqTranscript": "NM_022716.4",
      "ensemblProtein": "ENSP00000239461.6",
      "refseqProtein": "NP_073207.1",
      "exons": [
        {
          "start": 170664131,
          "end": 170664459
        },
        {
          "start": 170719726,
          "end": 170719901
        },
        {
          "start": 170726220,
          "end": 170726401
        },
        {
          "start": 170736048,
          "end": 170739421
        }
      ],
      "cds": {
        "start": 170664219,
        "end": 170736186
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 170631869,
      "end": 170708560,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 170201776,
      "end": 171201775,
      "genes": [
        {
          "symbol": "GORAB",
          "ensemblId": "ENSG00000120370",
          "biotype": "protein_coding",
          "start": 170531819,
          "end": 170553834,
          "strand": "+",
          "slug": "gorab"
        },
        {
          "symbol": "MROH9",
          "ensemblId": "ENSG00000117501",
          "biotype": "protein_coding",
          "start": 170935429,
          "end": 171064765,
          "strand": "+",
          "slug": "mroh9"
        },
        {
          "symbol": "FMO3",
          "ensemblId": "ENSG00000007933",
          "biotype": "protein_coding",
          "start": 171085113,
          "end": 171118675,
          "strand": "+",
          "slug": "fmo3"
        },
        {
          "symbol": "FMO2",
          "ensemblId": "ENSG00000094963",
          "biotype": "protein_coding",
          "start": 171185249,
          "end": 171212686,
          "strand": "+",
          "slug": "fmo2"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cranial-nerve-morphology",
        "name": "Abnormal cranial nerve morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-cranial-nerve-morphology"
      },
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "systems": [],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      },
      {
        "slug": "microglossia",
        "name": "Abnormally small tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microglossia"
      },
      {
        "slug": "mandibular-aplasia",
        "name": "Absence of lower jaw bones",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mandibular-aplasia"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-cerebellum",
        "name": "Absent/small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-cerebellum"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "situs-inversus-totalis",
        "name": "All organs on wrong side of body",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/situs-inversus-totalis"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "slug": "cyclopia",
        "name": "Cyclops eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cyclopia"
      },
      {
        "slug": "aplasia-hypoplasia-involving-the-nose",
        "name": "Decreased nasal size",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-involving-the-nose"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "aglossia",
        "name": "Failure of development of tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/aglossia"
      },
      {
        "slug": "tracheomalacia",
        "name": "Floppy windpipe",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tracheomalacia"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "holoprosencephaly",
        "name": "Holoprosencephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/holoprosencephaly"
      },
      {
        "slug": "hypoplasia-of-the-epiglottis",
        "name": "Hypoplasia of the epiglottis",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-epiglottis"
      },
      {
        "slug": "laryngeal-hypoplasia",
        "name": "Laryngeal hypoplasia",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/laryngeal-hypoplasia"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "absent-nares",
        "name": "Missing nostrils",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/absent-nares"
      },
      {
        "slug": "narrow-internal-auditory-canal",
        "name": "Narrow internal auditory canal",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/narrow-internal-auditory-canal"
      },
      {
        "slug": "narrow-mouth",
        "name": "Narrow mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/narrow-mouth"
      },
      {
        "slug": "pulmonary-hypoplasia",
        "name": "Poorly developed lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pulmonary-hypoplasia"
      },
      {
        "slug": "secundum-atrial-septal-defect",
        "name": "Secundum atrial septal defect",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/secundum-atrial-septal-defect"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-eyebrow",
        "name": "Sparse or absent eyebrows",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-eyebrow"
      },
      {
        "slug": "synotia",
        "name": "Synotia",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/synotia"
      },
      {
        "slug": "hypoplasia-of-penis",
        "name": "Underdeveloped penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-penis"
      },
      {
        "slug": "wide-nose",
        "name": "Wide nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wide-nose"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}