{
  "url": "https://dantelabs.com/pl/genes/tek",
  "gene": {
    "slug": "tek",
    "symbol": "TEK",
    "name": "TEK receptor tyrosine kinase",
    "hgnc": "HGNC:11724",
    "summary": null,
    "location": "9p21.2",
    "locusType": "gene with protein product",
    "aliases": [
      "TIE2",
      "TIE-2",
      "VMCM1",
      "CD202b"
    ],
    "previousSymbols": [
      "VMCM"
    ],
    "ensemblId": "ENSG00000120156",
    "entrezId": 7010,
    "omim": [
      "600221"
    ],
    "uniprot": [
      "Q02763"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "9",
      "start": 27109225,
      "end": 27230174,
      "strand": "+",
      "ensemblTranscript": "ENST00000380036.10",
      "refseqTranscript": "NM_000459.5",
      "ensemblProtein": "ENSP00000369375.4",
      "refseqProtein": "NP_000450.3",
      "exons": [
        {
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        {
          "start": 27228206,
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        {
          "start": 27229158,
          "end": 27230174
        }
      ],
      "cds": {
        "start": 27109591,
        "end": 27229232
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "9",
      "start": 27109139,
      "end": 27230173,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 26669700,
      "end": 27669699,
      "genes": [
        {
          "symbol": "CAAP1",
          "ensemblId": "ENSG00000120159",
          "biotype": "protein_coding",
          "start": 26837785,
          "end": 26892824,
          "strand": "-",
          "slug": "caap1"
        },
        {
          "symbol": "PLAA",
          "ensemblId": "ENSG00000137055",
          "biotype": "protein_coding",
          "start": 26903359,
          "end": 26947495,
          "strand": "-",
          "slug": "plaa"
        },
        {
          "symbol": "IFT74",
          "ensemblId": "ENSG00000096872",
          "biotype": "protein_coding",
          "start": 26947039,
          "end": 27066198,
          "strand": "+",
          "slug": "ift74"
        },
        {
          "symbol": "LRRC19",
          "ensemblId": "ENSG00000184434",
          "biotype": "protein_coding",
          "start": 26993136,
          "end": 27005709,
          "strand": "-",
          "slug": "lrrc19"
        },
        {
          "symbol": "EQTN",
          "ensemblId": "ENSG00000120160",
          "biotype": "protein_coding",
          "start": 27284654,
          "end": 27297150,
          "strand": "-",
          "slug": "eqtn"
        },
        {
          "symbol": "MOB3B",
          "ensemblId": "ENSG00000120162",
          "biotype": "protein_coding",
          "start": 27325209,
          "end": 27529829,
          "strand": "-",
          "slug": "mob3b"
        },
        {
          "symbol": "IFNK",
          "ensemblId": "ENSG00000147896",
          "biotype": "protein_coding",
          "start": 27524290,
          "end": 27526498,
          "strand": "+",
          "slug": "ifnk"
        },
        {
          "symbol": "C9orf72",
          "ensemblId": "ENSG00000147894",
          "biotype": "protein_coding",
          "start": 27535640,
          "end": 27573895,
          "strand": "-",
          "slug": "c9orf72"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "glaucoma",
        "name": "Jaskra",
        "diseases": [
          {
            "mondoId": "MONDO:0005041",
            "name": "Jaskra",
            "genes": 8,
            "inheritance": null,
            "description": "Wzrost ciśnienia wewnątrzgałkowego spowodowany utrudnionym odpływem cieczy wodnistej.",
            "management": "Krople obniżające ciśnienie wewnątrzgałkowe (analogi prostaglandyn, beta-blokery); selektywna laserowa trabekuloplastyka; zabiegi MIGS; trabekulotomia/goniotomia w jaskrze wrodzonej; kaskadowe badania genetyczne rodziny; coroczne monitorowanie ciśnienia wewnątrzgałkowego u nosicieli",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/glaucoma"
      },
      {
        "slug": "hereditary-vascular-malformations",
        "name": "Dziedziczne malformacje naczyniowe",
        "diseases": [
          {
            "mondoId": "MONDO:0010842",
            "name": "Mnogie żylne malformacje skórne i błon śluzowych (Multiple Cutaneous and Mucosal Venous Malformations)",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Schorzenie wywołane zmianami w genie TEK, objawiające się licznymi drobnymi niebieskawymi malformacjami żylnymi w skórze oraz na błonie śluzowej jamy ustnej lub przewodu pokarmowego.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/hereditary-vascular-malformations"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-descemet-membrane-morphology",
        "name": "Abnormal Descemet membrane morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-descemet-membrane-morphology"
      },
      {
        "slug": "abnormality-of-coagulation",
        "name": "Abnormality of coagulation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-coagulation"
      },
      {
        "slug": "abnormality-of-the-vasculature",
        "name": "Abnormality of the vasculature",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-vasculature"
      },
      {
        "slug": "anisometropia",
        "name": "Anisometropia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anisometropia"
      },
      {
        "slug": "arteriovenous-malformation",
        "name": "Arteriovenous malformation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/arteriovenous-malformation"
      },
      {
        "slug": "bone-pain",
        "name": "Bone pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bone-pain"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "cavernous-hemangioma",
        "name": "Collection of dilated blood vessels that forms mass",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cavernous-hemangioma"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "corneal-stromal-edema",
        "name": "Corneal stromal edema",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/corneal-stromal-edema"
      },
      {
        "slug": "gastrointestinal-infarctions",
        "name": "Death of digestive organ tissue due to poor blood supply",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastrointestinal-infarctions"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "deep-anterior-chamber",
        "name": "Deep anterior chamber",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/deep-anterior-chamber"
      },
      {
        "slug": "megalocornea",
        "name": "Enlarged cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/megalocornea"
      },
      {
        "slug": "buphthalmos",
        "name": "Enlarged eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/buphthalmos"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "blepharospasm",
        "name": "Eyelid spasm",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/blepharospasm"
      },
      {
        "slug": "subcutaneous-nodule",
        "name": "Firm lump under the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/subcutaneous-nodule"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "ocular-hypertension",
        "name": "High eye pressure",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ocular-hypertension"
      },
      {
        "slug": "increased-cup-to-disc-ratio",
        "name": "Increased cup-to-disc ratio",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/increased-cup-to-disc-ratio"
      },
      {
        "slug": "epiphora",
        "name": "Increased tears",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/epiphora"
      },
      {
        "slug": "intestinal-bleeding",
        "name": "Intestinal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intestinal-bleeding"
      },
      {
        "slug": "iridodonesis",
        "name": "Iridodonesis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/iridodonesis"
      },
      {
        "slug": "iris-atrophy",
        "name": "Iris degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/iris-atrophy"
      },
      {
        "slug": "amblyopia",
        "name": "Lazy eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/amblyopia"
      },
      {
        "slug": "microcytic-anemia",
        "name": "Microcytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcytic-anemia"
      },
      {
        "slug": "primary-congenital-glaucoma",
        "name": "Primary congenital glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/primary-congenital-glaucoma"
      },
      {
        "slug": "prolonged-bleeding-time",
        "name": "Prolonged bleeding time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/prolonged-bleeding-time"
      },
      {
        "slug": "reduced-anterior-scleral-thickness",
        "name": "Reduced anterior scleral thickness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-anterior-scleral-thickness"
      },
      {
        "slug": "skin-rash",
        "name": "Skin rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skin-rash"
      },
      {
        "slug": "venous-malformation",
        "name": "Venous malformation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/venous-malformation"
      },
      {
        "slug": "visceral-angiomatosis",
        "name": "Visceral angiomatosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visceral-angiomatosis"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-loss"
      },
      {
        "slug": "volvulus",
        "name": "Volvulus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/volvulus"
      }
    ],
    "related": [
      {
        "slug": "cyp1b1",
        "symbol": "CYP1B1",
        "name": "cytochrome P450 family 1 subfamily B member 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cyp1b1"
      },
      {
        "slug": "efemp1",
        "symbol": "EFEMP1",
        "name": "EGF-like fibulin extracellular matrix protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/efemp1"
      },
      {
        "slug": "foxc1",
        "symbol": "FOXC1",
        "name": "forkhead box C1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/foxc1"
      },
      {
        "slug": "ltbp2",
        "symbol": "LTBP2",
        "name": "latent transforming growth factor beta binding protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/ltbp2"
      },
      {
        "slug": "myoc",
        "symbol": "MYOC",
        "name": "myocilin",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/myoc"
      },
      {
        "slug": "optn",
        "symbol": "OPTN",
        "name": "optineurin",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/optn"
      },
      {
        "slug": "thbs1",
        "symbol": "THBS1",
        "name": "thrombospondin 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/thbs1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}