{
  "url": "https://dantelabs.com/fr/genes/esr1",
  "gene": {
    "slug": "esr1",
    "symbol": "ESR1",
    "name": "estrogen receptor 1",
    "hgnc": "HGNC:3467",
    "summary": null,
    "location": "6q25.1-q25.2",
    "locusType": "gene with protein product",
    "aliases": [
      "ER",
      "NR3A1",
      "Era",
      "ER-alpha"
    ],
    "previousSymbols": [
      "ESR"
    ],
    "ensemblId": "ENSG00000091831",
    "entrezId": 2099,
    "omim": [
      "133430"
    ],
    "uniprot": [
      "P03372"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 151807682,
      "end": 152103274,
      "strand": "+",
      "ensemblTranscript": "ENST00000206249.8",
      "refseqTranscript": "NM_000125.4",
      "ensemblProtein": "ENSP00000206249.3",
      "refseqProtein": "NP_000116.2",
      "exons": [
        {
          "start": 151807682,
          "end": 151808364
        },
        {
          "start": 151842597,
          "end": 151842787
        },
        {
          "start": 151880655,
          "end": 151880771
        },
        {
          "start": 151944173,
          "end": 151944508
        },
        {
          "start": 152011656,
          "end": 152011794
        },
        {
          "start": 152060991,
          "end": 152061124
        },
        {
          "start": 152094385,
          "end": 152094568
        },
        {
          "start": 152098732,
          "end": 152103274
        }
      ],
      "cds": {
        "start": 151807913,
        "end": 152098966
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 151977826,
      "end": 152450754,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 151455478,
      "end": 152455477,
      "genes": [
        {
          "symbol": "DCPH1",
          "ensemblId": "ENSG00000146476",
          "biotype": "protein_coding",
          "start": 151452258,
          "end": 151489098,
          "strand": "+",
          "slug": "dcph1"
        },
        {
          "symbol": "CCDC170",
          "ensemblId": "ENSG00000120262",
          "biotype": "protein_coding",
          "start": 151493754,
          "end": 151621193,
          "strand": "+",
          "slug": "ccdc170"
        },
        {
          "symbol": "SYNE1",
          "ensemblId": "ENSG00000131018",
          "biotype": "protein_coding",
          "start": 152121687,
          "end": 152637801,
          "strand": "-",
          "slug": "syne1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-testosterone-concentration",
        "name": "Abnormal testosterone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-circulating-testosterone-concentration"
      },
      {
        "slug": "abnormal-circulating-hormone-concentration",
        "name": "Abnormality of circulating hormone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-hormone-concentration"
      },
      {
        "slug": "abnormality-of-the-pubic-hair",
        "name": "Abnormality of the pubic hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/abnormality-of-the-pubic-hair"
      },
      {
        "slug": "absence-of-pubertal-development",
        "name": "Absence of pubertal development",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/absence-of-pubertal-development"
      },
      {
        "slug": "absence-of-secondary-sex-characteristics",
        "name": "Absence of secondary sex characteristics",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/absence-of-secondary-sex-characteristics"
      },
      {
        "slug": "breast-aplasia",
        "name": "Absent breast",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/breast-aplasia"
      },
      {
        "slug": "acne",
        "name": "Acne",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/acne"
      },
      {
        "slug": "abnormality-of-the-adrenal-glands",
        "name": "Adrenal abnormalities",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/abnormality-of-the-adrenal-glands"
      },
      {
        "slug": "breast-carcinoma",
        "name": "Breast cancer",
        "systems": [
          "abnormality-of-the-breast",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/breast-carcinoma"
      },
      {
        "slug": "acanthosis-nigricans",
        "name": "Darkened and thickened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/acanthosis-nigricans"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "delayed-epiphyseal-ossification",
        "name": "Delayed maturation of end part of long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-epiphyseal-ossification"
      },
      {
        "slug": "delayed-puberty",
        "name": "Delayed puberty",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-puberty"
      },
      {
        "slug": "elevated-alkaline-phosphatase-of-bone-origin",
        "name": "Elevated alkaline phosphatase of bone origin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-alkaline-phosphatase-of-bone-origin"
      },
      {
        "slug": "elevated-tissue-non-specific-alkaline-phosphatase",
        "name": "Elevated tissue non-specific alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-tissue-non-specific-alkaline-phosphatase"
      },
      {
        "slug": "enlarged-polycystic-ovaries",
        "name": "Enlarged ovaries with cysts",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/enlarged-polycystic-ovaries"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "phonophobia",
        "name": "Fear of loud sounds",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/phonophobia"
      },
      {
        "slug": "overgrowth",
        "name": "General overgrowth",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/overgrowth"
      },
      {
        "slug": "glucose-intolerance",
        "name": "Glucose intolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glucose-intolerance"
      },
      {
        "slug": "hyperinsulinemia",
        "name": "Hyperinsulinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperinsulinemia"
      },
      {
        "slug": "impaired-glucose-tolerance",
        "name": "Impaired glucose tolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/impaired-glucose-tolerance"
      },
      {
        "slug": "increased-circulating-gonadotropin-level",
        "name": "Increased circulating gonadotropin level",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-gonadotropin-level"
      },
      {
        "slug": "increased-circulating-osteocalcin-level",
        "name": "Increased circulating osteocalcin level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-osteocalcin-level"
      },
      {
        "slug": "increased-serum-estradiol",
        "name": "Increased serum estradiol",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-serum-estradiol"
      },
      {
        "slug": "episodic-abdominal-pain",
        "name": "Intermittent abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/episodic-abdominal-pain"
      },
      {
        "slug": "marked-delay-in-bone-age",
        "name": "Marked delay in bone age",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/marked-delay-in-bone-age"
      },
      {
        "slug": "migraine-with-aura",
        "name": "Migraine with aura",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/migraine-with-aura"
      },
      {
        "slug": "migraine-without-aura",
        "name": "Migraine without aura",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/migraine-without-aura"
      },
      {
        "slug": "nausea",
        "name": "Nausea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/nausea"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "coronary-artery-atherosclerosis",
        "name": "Plaque build-up in arteries supplying blood to heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coronary-artery-atherosclerosis"
      },
      {
        "slug": "polycystic-ovaries",
        "name": "Polycystic ovaries",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/polycystic-ovaries"
      },
      {
        "slug": "primary-amenorrhea",
        "name": "Primary amenorrhea",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/primary-amenorrhea"
      },
      {
        "slug": "hypoplasia-of-the-uterus",
        "name": "Small uterus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-uterus"
      },
      {
        "slug": "tall-stature",
        "name": "Tall stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/tall-stature"
      },
      {
        "slug": "breast-hypoplasia",
        "name": "Underdeveloped breasts",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/breast-hypoplasia"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}