{
  "url": "https://dantelabs.com/el/genes/mdm2",
  "gene": {
    "slug": "mdm2",
    "symbol": "MDM2",
    "name": "MDM2 proto-oncogene",
    "hgnc": "HGNC:6973",
    "summary": null,
    "location": "12q15",
    "locusType": "gene with protein product",
    "aliases": [
      "HDM2",
      "MGC5370"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000135679",
    "entrezId": 4193,
    "omim": [
      "164785"
    ],
    "uniprot": [
      "Q00987"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 68808177,
      "end": 68845544,
      "strand": "+",
      "ensemblTranscript": "ENST00000258149.11",
      "refseqTranscript": "NM_002392.6",
      "ensemblProtein": "ENSP00000258149.6",
      "refseqProtein": "NP_002383.2",
      "exons": [
        {
          "start": 68808177,
          "end": 68808491
        },
        {
          "start": 68809208,
          "end": 68809292
        },
        {
          "start": 68813554,
          "end": 68813628
        },
        {
          "start": 68816812,
          "end": 68816945
        },
        {
          "start": 68820325,
          "end": 68820374
        },
        {
          "start": 68824363,
          "end": 68824430
        },
        {
          "start": 68824555,
          "end": 68824651
        },
        {
          "start": 68828771,
          "end": 68828931
        },
        {
          "start": 68835829,
          "end": 68835984
        },
        {
          "start": 68836672,
          "end": 68836749
        },
        {
          "start": 68839274,
          "end": 68845544
        }
      ],
      "cds": {
        "start": 68808478,
        "end": 68839849
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 69201956,
      "end": 69239214,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 68326861,
      "end": 69326860,
      "genes": [
        {
          "symbol": "SAXO6",
          "ensemblId": "ENSG00000111554",
          "biotype": "protein_coding",
          "start": 68272443,
          "end": 68332396,
          "strand": "-",
          "slug": "saxo6"
        },
        {
          "symbol": "RAP1B",
          "ensemblId": "ENSG00000127314",
          "biotype": "protein_coding",
          "start": 68610410,
          "end": 68671901,
          "strand": "+",
          "slug": "rap1b"
        },
        {
          "symbol": "NUP107",
          "ensemblId": "ENSG00000111581",
          "biotype": "protein_coding",
          "start": 68686951,
          "end": 68745809,
          "strand": "+",
          "slug": "nup107"
        },
        {
          "symbol": "SLC35E3",
          "ensemblId": "ENSG00000175782",
          "biotype": "protein_coding",
          "start": 68746080,
          "end": 68793974,
          "strand": "+",
          "slug": "slc35e3"
        },
        {
          "symbol": "CPM",
          "ensemblId": "ENSG00000135678",
          "biotype": "protein_coding",
          "start": 68842192,
          "end": 68971570,
          "strand": "-",
          "slug": "cpm"
        },
        {
          "symbol": "CPSF6",
          "ensemblId": "ENSG00000111605",
          "biotype": "protein_coding",
          "start": 69239543,
          "end": 69279829,
          "strand": "+",
          "slug": "cpsf6"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-renal-physiology",
        "name": "Abnormal kidney function",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-renal-physiology"
      },
      {
        "slug": "neoplasm",
        "name": "Abnormal tissue mass",
        "systems": [],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/neoplasm"
      },
      {
        "slug": "acute-lymphoblastic-leukemia",
        "name": "Acute lymphoblastic leukemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/acute-lymphoblastic-leukemia"
      },
      {
        "slug": "acute-myeloid-leukemia",
        "name": "Acute myeloid leukemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/acute-myeloid-leukemia"
      },
      {
        "slug": "adrenocortical-carcinoma",
        "name": "Adrenocortical carcinoma",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/adrenocortical-carcinoma"
      },
      {
        "slug": "astrocytoma",
        "name": "Astrocytoma",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/astrocytoma"
      },
      {
        "slug": "leukemia",
        "name": "Blood cancer",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/leukemia"
      },
      {
        "slug": "osteosarcoma",
        "name": "Bone cell cancer",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteosarcoma"
      },
      {
        "slug": "breast-carcinoma",
        "name": "Breast cancer",
        "systems": [
          "abnormality-of-the-breast",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/breast-carcinoma"
      },
      {
        "slug": "lymphoma",
        "name": "Cancer of lymphatic system",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lymphoma"
      },
      {
        "slug": "melanoma",
        "name": "Cancer of skin pigment cells",
        "systems": [
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/melanoma"
      },
      {
        "slug": "neoplasm-of-the-pancreas",
        "name": "Cancer of the pancreas",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-pancreas"
      },
      {
        "slug": "central-primitive-neuroectodermal-tumor",
        "name": "Central primitive neuroectodermal tumor",
        "systems": [
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/central-primitive-neuroectodermal-tumor"
      },
      {
        "slug": "choriocarcinoma",
        "name": "Choriocarcinoma",
        "systems": [
          "abnormality-of-prenatal-development-or-birth",
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/choriocarcinoma"
      },
      {
        "slug": "choroid-plexus-carcinoma",
        "name": "Choroid plexus carcinoma",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/choroid-plexus-carcinoma"
      },
      {
        "slug": "colon-cancer",
        "name": "Colon cancer",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/colon-cancer"
      },
      {
        "slug": "colorectal-polyposis",
        "name": "Colorectal polyposis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/colorectal-polyposis"
      },
      {
        "slug": "hypogonadism",
        "name": "Decreased activity of gonads",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypogonadism"
      },
      {
        "slug": "ependymoma",
        "name": "Ependymoma",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ependymoma"
      },
      {
        "slug": "subcutaneous-nodule",
        "name": "Firm lump under the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/subcutaneous-nodule"
      },
      {
        "slug": "gastrointestinal-dysmotility",
        "name": "Gastrointestinal dysmotility",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastrointestinal-dysmotility"
      },
      {
        "slug": "neoplasm-of-the-gastrointestinal-tract",
        "name": "Gastrointestinal tract tumor",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-gastrointestinal-tract"
      },
      {
        "slug": "glioblastoma-multiforme",
        "name": "Glioblastoma multiforme",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/glioblastoma-multiforme"
      },
      {
        "slug": "neoplasm-of-head-and-neck",
        "name": "Head and neck tumor",
        "systems": [
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/neoplasm-of-head-and-neck"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "abnormally-high-pitched-voice",
        "name": "High pitched voice",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormally-high-pitched-voice"
      },
      {
        "slug": "hodgkin-lymphoma",
        "name": "Hodgkin lymphoma",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hodgkin-lymphoma"
      },
      {
        "slug": "renal-neoplasm",
        "name": "Kidney cancer",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/renal-neoplasm"
      },
      {
        "slug": "neoplasm-of-the-lung",
        "name": "Lung cancer",
        "systems": [
          "abnormality-of-the-respiratory-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-lung"
      },
      {
        "slug": "medulloblastoma",
        "name": "Medulloblastoma",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/medulloblastoma"
      },
      {
        "slug": "myelodysplasia",
        "name": "Myelodysplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/myelodysplasia"
      },
      {
        "slug": "narrow-mouth",
        "name": "Narrow mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/narrow-mouth"
      },
      {
        "slug": "narrow-nasal-bridge",
        "name": "Narrow nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/narrow-nasal-bridge"
      },
      {
        "slug": "neoplasm-of-the-larynx",
        "name": "Neoplasm of the larynx",
        "systems": [
          "abnormality-of-the-respiratory-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-larynx"
      },
      {
        "slug": "non-hodgkin-lymphoma",
        "name": "Non-Hodgkin lymphoma",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/non-hodgkin-lymphoma"
      },
      {
        "slug": "ovarian-neoplasm",
        "name": "Ovarian cancer",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ovarian-neoplasm"
      },
      {
        "slug": "premature-graying-of-hair",
        "name": "Premature graying of hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/premature-graying-of-hair"
      },
      {
        "slug": "prostate-cancer",
        "name": "Prostate cancer",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/prostate-cancer"
      },
      {
        "slug": "neoplasm-of-the-rectum",
        "name": "Rectal tumor",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-rectum"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "rhabdomyosarcoma",
        "name": "Rhabdomyosarcoma",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rhabdomyosarcoma"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "renal-hypoplasia",
        "name": "Small kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-hypoplasia"
      },
      {
        "slug": "sparse-pubic-hair",
        "name": "Sparse pubic hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-pubic-hair"
      },
      {
        "slug": "stomach-cancer",
        "name": "Stomach cancer",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stomach-cancer"
      },
      {
        "slug": "testicular-neoplasm",
        "name": "Testicular cancer",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/testicular-neoplasm"
      },
      {
        "slug": "thyroid-carcinoma",
        "name": "Thyroid carcinoma",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/thyroid-carcinoma"
      },
      {
        "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"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}