{
  "url": "https://dantelabs.com/et/genes/edn1",
  "gene": {
    "slug": "edn1",
    "symbol": "EDN1",
    "name": "endothelin 1",
    "hgnc": "HGNC:3176",
    "summary": null,
    "location": "6p24.1",
    "locusType": "gene with protein product",
    "aliases": [
      "ET1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000078401",
    "entrezId": 1906,
    "omim": [
      "131240"
    ],
    "uniprot": [
      "P05305"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 12290361,
      "end": 12297194,
      "strand": "+",
      "ensemblTranscript": "ENST00000379375.6",
      "refseqTranscript": "NM_001955.5",
      "ensemblProtein": "ENSP00000368683.5",
      "refseqProtein": "NP_001946.3",
      "exons": [
        {
          "start": 12290361,
          "end": 12290693
        },
        {
          "start": 12292341,
          "end": 12292509
        },
        {
          "start": 12293941,
          "end": 12294096
        },
        {
          "start": 12294261,
          "end": 12294404
        },
        {
          "start": 12295962,
          "end": 12297194
        }
      ],
      "cds": {
        "start": 12290630,
        "end": 12296067
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 12290596,
      "end": 12297427,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 11793778,
      "end": 12793777,
      "genes": [
        {
          "symbol": "ADTRP",
          "ensemblId": "ENSG00000111863",
          "biotype": "protein_coding",
          "start": 11711616,
          "end": 11807046,
          "strand": "-",
          "slug": "adtrp"
        },
        {
          "symbol": "HIVEP1",
          "ensemblId": "ENSG00000095951",
          "biotype": "protein_coding",
          "start": 12008762,
          "end": 12164999,
          "strand": "+",
          "slug": "hivep1"
        },
        {
          "symbol": "PHACTR1",
          "ensemblId": "ENSG00000112137",
          "biotype": "protein_coding",
          "start": 12716312,
          "end": 13290446,
          "strand": "+",
          "slug": "phactr1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-crus-of-the-helix",
        "name": "Abnormality of the crus of the helix",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-crus-of-the-helix"
      },
      {
        "slug": "abnormality-of-the-temporomandibular-joint",
        "name": "Abnormality of the jaw joint",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-temporomandibular-joint"
      },
      {
        "slug": "abnormal-pinna-morphology",
        "name": "Abnormally shaped ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-pinna-morphology"
      },
      {
        "slug": "microglossia",
        "name": "Abnormally small tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microglossia"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-external-ear",
        "name": "Absent/small external ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-external-ear"
      },
      {
        "slug": "dental-malocclusion",
        "name": "Bad bite",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dental-malocclusion"
      },
      {
        "slug": "bifid-uvula",
        "name": "Bifid uvula",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bifid-uvula"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "bilateral-conductive-hearing-impairment",
        "name": "Bilateral conductive hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bilateral-conductive-hearing-impairment"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "cleft-helix",
        "name": "Cleft helix",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cleft-helix"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "dental-crowding",
        "name": "Dental crowding",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dental-crowding"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "ectropion",
        "name": "Everted eyelid",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ectropion"
      },
      {
        "slug": "facial-asymmetry",
        "name": "Facial asymmetry",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/facial-asymmetry"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "full-cheeks",
        "name": "Full cheeks",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/full-cheeks"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hamartoma-of-tongue",
        "name": "Hamartoma of tongue",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hamartoma-of-tongue"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "laryngeal-cleft",
        "name": "Laryngeal cleft",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/laryngeal-cleft"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "mandibular-condyle-aplasia",
        "name": "Mandibular condyle aplasia",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mandibular-condyle-aplasia"
      },
      {
        "slug": "mandibular-condyle-hypoplasia",
        "name": "Mandibular condyle hypoplasia",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mandibular-condyle-hypoplasia"
      },
      {
        "slug": "stenosis-of-the-external-auditory-canal",
        "name": "Narrow ear canal",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stenosis-of-the-external-auditory-canal"
      },
      {
        "slug": "narrow-mouth",
        "name": "Narrow mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/narrow-mouth"
      },
      {
        "slug": "obstructive-sleep-apnea",
        "name": "Obstructive sleep apnea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/obstructive-sleep-apnea"
      },
      {
        "slug": "periauricular-skin-pits",
        "name": "Pits around the ear",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/periauricular-skin-pits"
      },
      {
        "slug": "question-mark-ear",
        "name": "Question mark ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/question-mark-ear"
      },
      {
        "slug": "retrognathia",
        "name": "Receding chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retrognathia"
      },
      {
        "slug": "glossoptosis",
        "name": "Retraction of the tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glossoptosis"
      },
      {
        "slug": "preauricular-skin-tag",
        "name": "Skin tag in front of the ear",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/preauricular-skin-tag"
      },
      {
        "slug": "snoring",
        "name": "Snoring",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/snoring"
      },
      {
        "slug": "tongue-muscle-weakness",
        "name": "Tongue muscle weakness",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tongue-muscle-weakness"
      },
      {
        "slug": "vein-of-galen-aneurysmal-malformation",
        "name": "Vein of Galen aneurysmal malformation",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/vein-of-galen-aneurysmal-malformation"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}