{
  "url": "https://dantelabs.com/el/genes/zeb1",
  "gene": {
    "slug": "zeb1",
    "symbol": "ZEB1",
    "name": "zinc finger E-box binding homeobox 1",
    "hgnc": "HGNC:11642",
    "summary": null,
    "location": "10p11.22",
    "locusType": "gene with protein product",
    "aliases": [
      "BZP",
      "ZEB",
      "AREB6",
      "NIL-2-A",
      "Zfhep",
      "Zfhx1a",
      "FECD6"
    ],
    "previousSymbols": [
      "TCF8",
      "PPCD3"
    ],
    "ensemblId": "ENSG00000148516",
    "entrezId": 6935,
    "omim": [
      "189909"
    ],
    "uniprot": [
      "P37275"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "10",
      "start": 31319216,
      "end": 31529804,
      "strand": "+",
      "ensemblTranscript": "ENST00000424869.6",
      "refseqTranscript": "NM_001174096.2",
      "ensemblProtein": "ENSP00000415961.2",
      "refseqProtein": "NP_001167567.1",
      "exons": [
        {
          "start": 31319216,
          "end": 31319292
        },
        {
          "start": 31461037,
          "end": 31461237
        },
        {
          "start": 31495776,
          "end": 31495838
        },
        {
          "start": 31502348,
          "end": 31502509
        },
        {
          "start": 31510673,
          "end": 31510875
        },
        {
          "start": 31514603,
          "end": 31514708
        },
        {
          "start": 31520126,
          "end": 31521936
        },
        {
          "start": 31523933,
          "end": 31524113
        },
        {
          "start": 31526672,
          "end": 31529804
        }
      ],
      "cds": {
        "start": 31319235,
        "end": 31527264
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "10",
      "start": 31607424,
      "end": 31818742,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 30924510,
      "end": 31924509,
      "genes": [
        {
          "symbol": "ZNF438",
          "ensemblId": "ENSG00000183621",
          "biotype": "protein_coding",
          "start": 30820207,
          "end": 31032110,
          "strand": "-",
          "slug": "znf438"
        },
        {
          "symbol": "ARHGAP12",
          "ensemblId": "ENSG00000165322",
          "biotype": "protein_coding",
          "start": 31805398,
          "end": 31928876,
          "strand": "-",
          "slug": "arhgap12"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-corneal-dystrophies",
        "name": "Κληρονομικές δυστροφίες κερατοειδούς",
        "diseases": [
          {
            "mondoId": "MONDO:0018102",
            "name": "Δυστροφία κερατοειδούς",
            "genes": 19,
            "inheritance": null,
            "description": "Ομάδα κληρονομικών παθήσεων που επηρεάζουν ένα ή περισσότερα στρώματα του κερατοειδούς, όπως η δυστροφία ενδοθηλίου Fuchs (συχνά συνδεδεμένη με επέκταση επαναλήψεων στο TCF4), οι κοκκώδεις και πλεγματικές δυστροφίες που σχετίζονται με το TGFBI, και σπανιότερα είδη που προκαλούνται από γονίδια όπως τα SLC4A11, COL8A2, ZEB1 και CHST6.",
            "management": "Στους φορείς παραλλαγών του TGFBI συνήθως συνιστάται να αποφεύγουν τη διαθλαστική χειρουργική με laser (LASIK ή PRK), καθώς αυτή μπορεί να επιδεινώσει τα εναποθέματα. Η μεταμόσχευση κερατοειδούς μπορεί να αποκαταστήσει την όραση σε προχωρημένη νόσο.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/hereditary-corneal-dystrophies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-corneal-endothelium-morphology",
        "name": "Abnormal corneal endothelium morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-corneal-endothelium-morphology"
      },
      {
        "slug": "abnormal-descemet-membrane-morphology",
        "name": "Abnormal Descemet membrane morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-descemet-membrane-morphology"
      },
      {
        "slug": "lacrimation-abnormality",
        "name": "Abnormality of tear production",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/lacrimation-abnormality"
      },
      {
        "slug": "anterior-synechiae-of-the-anterior-chamber",
        "name": "Anterior synechiae of the anterior chamber",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anterior-synechiae-of-the-anterior-chamber"
      },
      {
        "slug": "astigmatism",
        "name": "Astigmatism",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/astigmatism"
      },
      {
        "slug": "blurred-vision",
        "name": "Blurred vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/blurred-vision"
      },
      {
        "slug": "keratoconus",
        "name": "Bulging cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/keratoconus"
      },
      {
        "slug": "chorioretinal-atrophy",
        "name": "Chorioretinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/chorioretinal-atrophy"
      },
      {
        "slug": "corneal-dystrophy",
        "name": "Corneal dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/corneal-dystrophy"
      },
      {
        "slug": "corneal-guttata",
        "name": "Corneal guttata",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/corneal-guttata"
      },
      {
        "slug": "keratitis",
        "name": "Corneal inflammation",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/keratitis"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-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": "occasional",
        "url": "https://dantelabs.com/traits/corneal-stromal-edema"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "slug": "ectopia-pupillae",
        "name": "Displaced pupil",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ectopia-pupillae"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "eye-movement-induced-pain",
        "name": "Eye movement-induced pain",
        "systems": [
          "abnormality-of-the-eye",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eye-movement-induced-pain"
      },
      {
        "slug": "ocular-pain",
        "name": "Eye pain",
        "systems": [
          "abnormality-of-the-eye",
          "constitutional-symptom"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ocular-pain"
      },
      {
        "slug": "edema",
        "name": "Fluid retention",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/edema"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "ocular-hypertension",
        "name": "High eye pressure",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ocular-hypertension"
      },
      {
        "slug": "increased-corneal-curvature",
        "name": "Increased corneal curvature",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-corneal-curvature"
      },
      {
        "slug": "inguinal-hernia",
        "name": "Inguinal hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/inguinal-hernia"
      },
      {
        "slug": "esotropia",
        "name": "Inward turning cross eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/esotropia"
      },
      {
        "slug": "amblyopia",
        "name": "Lazy eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/amblyopia"
      },
      {
        "slug": "reduced-number-of-corneal-endothelial-cells",
        "name": "Reduced number of corneal endothelial cells",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-number-of-corneal-endothelial-cells"
      },
      {
        "slug": "uveal-ectropion",
        "name": "Uveal ectropion",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/uveal-ectropion"
      },
      {
        "slug": "very-low-visual-acuity",
        "name": "Very low visual acuity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/very-low-visual-acuity"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-loss"
      }
    ],
    "related": [
      {
        "slug": "chst6",
        "symbol": "CHST6",
        "name": "carbohydrate sulfotransferase 6",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/chst6"
      },
      {
        "slug": "col17a1",
        "symbol": "COL17A1",
        "name": "collagen type XVII alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/col17a1"
      },
      {
        "slug": "col8a2",
        "symbol": "COL8A2",
        "name": "collagen type VIII alpha 2 chain",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/col8a2"
      },
      {
        "slug": "dcn",
        "symbol": "DCN",
        "name": "decorin",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/dcn"
      },
      {
        "slug": "grhl2",
        "symbol": "GRHL2",
        "name": "grainyhead like transcription factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/grhl2"
      },
      {
        "slug": "gsn",
        "symbol": "GSN",
        "name": "gelsolin",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/gsn"
      },
      {
        "slug": "krt12",
        "symbol": "KRT12",
        "name": "keratin 12",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/krt12"
      },
      {
        "slug": "krt3",
        "symbol": "KRT3",
        "name": "keratin 3",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/krt3"
      },
      {
        "slug": "mcoln1",
        "symbol": "MCOLN1",
        "name": "mucolipin TRP cation channel 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/mcoln1"
      },
      {
        "slug": "nlrp1",
        "symbol": "NLRP1",
        "name": "NLR family pyrin domain containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/nlrp1"
      },
      {
        "slug": "ovol2",
        "symbol": "OVOL2",
        "name": "ovo like zinc finger 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ovol2"
      },
      {
        "slug": "pikfyve",
        "symbol": "PIKFYVE",
        "name": "phosphoinositide kinase, FYVE-type zinc finger containing",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/pikfyve"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}