{
  "url": "https://dantelabs.com/no/genes/edn3",
  "gene": {
    "slug": "edn3",
    "symbol": "EDN3",
    "name": "endothelin 3",
    "hgnc": "HGNC:3178",
    "summary": null,
    "location": "20q13.32",
    "locusType": "gene with protein product",
    "aliases": [
      "ET3"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000124205",
    "entrezId": 1908,
    "omim": [
      "131242"
    ],
    "uniprot": [
      "P14138"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 59300611,
      "end": 59325992,
      "strand": "+",
      "ensemblTranscript": "ENST00000337938.7",
      "refseqTranscript": "NM_207034.3",
      "ensemblProtein": "ENSP00000337128.2",
      "refseqProtein": "NP_996917.1",
      "exons": [
        {
          "start": 59300611,
          "end": 59300864
        },
        {
          "start": 59301410,
          "end": 59301722
        },
        {
          "start": 59321017,
          "end": 59321193
        },
        {
          "start": 59322372,
          "end": 59322417
        },
        {
          "start": 59324331,
          "end": 59325992
        }
      ],
      "cds": {
        "start": 59300813,
        "end": 59324459
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "20",
      "start": 57875482,
      "end": 57901047,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 58813302,
      "end": 59813301,
      "genes": [
        {
          "symbol": "GNAS",
          "ensemblId": "ENSG00000087460",
          "biotype": "protein_coding",
          "start": 58839669,
          "end": 58911192,
          "strand": "+",
          "slug": "gnas"
        },
        {
          "symbol": "NELFCD",
          "ensemblId": "ENSG00000101158",
          "biotype": "protein_coding",
          "start": 58981203,
          "end": 58997184,
          "strand": "+",
          "slug": "nelfcd"
        },
        {
          "symbol": "CTSZ",
          "ensemblId": "ENSG00000101160",
          "biotype": "protein_coding",
          "start": 58985686,
          "end": 59008238,
          "strand": "-",
          "slug": "ctsz"
        },
        {
          "symbol": "TUBB1",
          "ensemblId": "ENSG00000101162",
          "biotype": "protein_coding",
          "start": 59019379,
          "end": 59026654,
          "strand": "+",
          "slug": "tubb1"
        },
        {
          "symbol": "ATP5F1E",
          "ensemblId": "ENSG00000124172",
          "biotype": "protein_coding",
          "start": 59025475,
          "end": 59032363,
          "strand": "-",
          "slug": "atp5f1e"
        },
        {
          "symbol": "PRELID3B",
          "ensemblId": "ENSG00000101166",
          "biotype": "protein_coding",
          "start": 59033092,
          "end": 59042897,
          "strand": "-",
          "slug": "prelid3b"
        },
        {
          "symbol": "ZNF831",
          "ensemblId": "ENSG00000124203",
          "biotype": "protein_coding",
          "start": 59123381,
          "end": 59259113,
          "strand": "+",
          "slug": "znf831"
        },
        {
          "symbol": "PHACTR3",
          "ensemblId": "ENSG00000087495",
          "biotype": "protein_coding",
          "start": 59577470,
          "end": 59847711,
          "strand": "+",
          "slug": "phactr3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "waardenburg-shah-syndrome",
        "name": "Waardenburgs syndrom",
        "diseases": [
          {
            "mondoId": "MONDO:0019518",
            "name": "Waardenburg-Shah syndrom",
            "genes": 3,
            "inheritance": null,
            "description": "Waardenburg-Shah syndrom (WSS) er en nevrocristopati som kjennetegnes ved en kombinasjon av Waardenburg syndrom (sensorineuralt hørselstap og pigmentforstyrrelser) og Hirschsprungs sykdom.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0018094",
            "name": "Waardenburgs syndrom",
            "genes": 7,
            "inheritance": null,
            "description": "En gruppe tilstander (type 1 til 4) som gir hørselstap og pigmentendringer i hår, hud og øyne, forårsaket av gener som PAX3, MITF, SOX10, EDNRB og EDN3.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/waardenburg-shah-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-distention",
        "name": "Abdominal bloating",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abdominal-distention"
      },
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "abnormal-macular-morphology",
        "name": "Abnormal macular morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-macular-morphology"
      },
      {
        "slug": "abnormal-retinal-pigmentation",
        "name": "Abnormal retinal pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation"
      },
      {
        "slug": "abnormality-of-the-autonomic-nervous-system",
        "name": "Abnormality of the autonomic nervous system",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-autonomic-nervous-system"
      },
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "systems": [],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      },
      {
        "slug": "abnormal-eyebrow-morphology",
        "name": "Abnormality of the eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-eyebrow-morphology"
      },
      {
        "slug": "abnormal-intestine-morphology",
        "name": "Abnormality of the intestine",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-intestine-morphology"
      },
      {
        "slug": "abnormality-of-the-nose",
        "name": "Abnormality of the nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nose"
      },
      {
        "slug": "abnormality-of-vision",
        "name": "Abnormality of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-vision"
      },
      {
        "slug": "bilious-emesis",
        "name": "Bilious emesis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilious-emesis"
      },
      {
        "slug": "blue-irides",
        "name": "Blue eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/blue-irides"
      },
      {
        "slug": "neuroblastoma",
        "name": "Cancer of early nerve cells",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neuroblastoma"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "colon-perforation",
        "name": "Colon perforation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/colon-perforation"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "telecanthus",
        "name": "Corners of eye widely separated",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/telecanthus"
      },
      {
        "slug": "delayed-passage-of-meconium",
        "name": "Delayed passage of meconium",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-passage-of-meconium"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "heterochromia-iridis",
        "name": "Different colored eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/heterochromia-iridis"
      },
      {
        "slug": "aganglionic-megacolon",
        "name": "Enlarged colon lacking nerve cells",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/aganglionic-megacolon"
      },
      {
        "slug": "enterocolitis",
        "name": "Enterocolitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/enterocolitis"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive-in-infancy",
        "name": "Faltering weight in infancy",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive-in-infancy"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "functional-abnormality-of-the-gastrointestinal-tract",
        "name": "Functional abnormality of the gastrointestinal tract",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/functional-abnormality-of-the-gastrointestinal-tract"
      },
      {
        "slug": "ganglioneuroblastoma",
        "name": "Ganglioneuroblastoma",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ganglioneuroblastoma"
      },
      {
        "slug": "ganglioneuroma",
        "name": "Ganglioneuroma",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ganglioneuroma"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "sepsis",
        "name": "Infection in blood stream",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sepsis"
      },
      {
        "slug": "intestinal-obstruction",
        "name": "Intestinal obstruction",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intestinal-obstruction"
      },
      {
        "slug": "hypopigmentation-of-hair",
        "name": "Loss of hair color",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypopigmentation-of-hair"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "synophrys",
        "name": "Monobrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/synophrys"
      },
      {
        "slug": "nausea-and-vomiting",
        "name": "Nausea and vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nausea-and-vomiting"
      },
      {
        "slug": "olfactory-lobe-agenesis",
        "name": "Olfactory lobe absence",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/olfactory-lobe-agenesis"
      },
      {
        "slug": "hypopigmented-skin-patches",
        "name": "Patchy loss of skin color",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hypopigmented-skin-patches"
      },
      {
        "slug": "premature-graying-of-hair",
        "name": "Premature graying of hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/premature-graying-of-hair"
      },
      {
        "slug": "prominent-nasal-bridge",
        "name": "Prominent nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prominent-nasal-bridge"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "neoplasm-of-the-central-nervous-system",
        "name": "Tumors of the central nervous system",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-central-nervous-system"
      },
      {
        "slug": "underdeveloped-nasal-alae",
        "name": "Underdeveloped tissue around nostril",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/underdeveloped-nasal-alae"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      },
      {
        "slug": "white-eyebrow",
        "name": "White eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/white-eyebrow"
      },
      {
        "slug": "white-eyelashes",
        "name": "White eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/white-eyelashes"
      },
      {
        "slug": "white-forelock",
        "name": "White part of hair above forehead",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/white-forelock"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      }
    ],
    "related": [
      {
        "slug": "ednrb",
        "symbol": "EDNRB",
        "name": "endothelin receptor type B",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/ednrb"
      },
      {
        "slug": "sox10",
        "symbol": "SOX10",
        "name": "SRY-box transcription factor 10",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/sox10"
      },
      {
        "slug": "kitlg",
        "symbol": "KITLG",
        "name": "KIT ligand",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/kitlg"
      },
      {
        "slug": "mitf",
        "symbol": "MITF",
        "name": "melanocyte inducing transcription factor",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/mitf"
      },
      {
        "slug": "pax3",
        "symbol": "PAX3",
        "name": "paired box 3",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/pax3"
      },
      {
        "slug": "snai2",
        "symbol": "SNAI2",
        "name": "snail family transcriptional repressor 2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/snai2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}