{
  "url": "https://dantelabs.com/ro/genes/tgfbi",
  "gene": {
    "slug": "tgfbi",
    "symbol": "TGFBI",
    "name": "transforming growth factor beta induced",
    "hgnc": "HGNC:11771",
    "summary": null,
    "location": "5q31.1",
    "locusType": "gene with protein product",
    "aliases": [
      "BIGH3",
      "CDB1",
      "CDGG1"
    ],
    "previousSymbols": [
      "CSD3",
      "LCD1",
      "CSD1",
      "CSD2"
    ],
    "ensemblId": "ENSG00000120708",
    "entrezId": 7045,
    "omim": [
      "601692"
    ],
    "uniprot": [
      "Q15582"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 136028988,
      "end": 136063818,
      "strand": "+",
      "ensemblTranscript": "ENST00000442011.7",
      "refseqTranscript": "NM_000358.3",
      "ensemblProtein": "ENSP00000416330.2",
      "refseqProtein": "NP_000349.1",
      "exons": [
        {
          "start": 136028988,
          "end": 136029189
        },
        {
          "start": 136033763,
          "end": 136033861
        },
        {
          "start": 136044058,
          "end": 136044122
        },
        {
          "start": 136046335,
          "end": 136046495
        },
        {
          "start": 136046851,
          "end": 136047015
        },
        {
          "start": 136047274,
          "end": 136047420
        },
        {
          "start": 136049439,
          "end": 136049580
        },
        {
          "start": 136052907,
          "end": 136053119
        },
        {
          "start": 136053943,
          "end": 136054080
        },
        {
          "start": 136054716,
          "end": 136054861
        },
        {
          "start": 136055680,
          "end": 136055816
        },
        {
          "start": 136056665,
          "end": 136056795
        },
        {
          "start": 136059090,
          "end": 136059214
        },
        {
          "start": 136060834,
          "end": 136060936
        },
        {
          "start": 136061500,
          "end": 136061579
        },
        {
          "start": 136062663,
          "end": 136062687
        },
        {
          "start": 136063186,
          "end": 136063818
        }
      ],
      "cds": {
        "start": 136029056,
        "end": 136063226
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 135364584,
      "end": 135399507,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 135546403,
      "end": 136546402,
      "genes": [
        {
          "symbol": "SLC25A48",
          "ensemblId": "ENSG00000145832",
          "biotype": "protein_coding",
          "start": 135476913,
          "end": 135890730,
          "strand": "+",
          "slug": "slc25a48"
        },
        {
          "symbol": "CXCL14",
          "ensemblId": "ENSG00000145824",
          "biotype": "protein_coding",
          "start": 135570679,
          "end": 135579580,
          "strand": "-",
          "slug": "cxcl14"
        },
        {
          "symbol": "IL9",
          "ensemblId": "ENSG00000145839",
          "biotype": "protein_coding",
          "start": 135892246,
          "end": 135895841,
          "strand": "-",
          "slug": "il9"
        },
        {
          "symbol": "LECT2",
          "ensemblId": "ENSG00000145826",
          "biotype": "protein_coding",
          "start": 135922279,
          "end": 135955061,
          "strand": "-",
          "slug": "lect2"
        },
        {
          "symbol": "SMAD5",
          "ensemblId": "ENSG00000113658",
          "biotype": "protein_coding",
          "start": 136132828,
          "end": 136188747,
          "strand": "+",
          "slug": "smad5"
        },
        {
          "symbol": "SMIM32",
          "ensemblId": "ENSG00000271824",
          "biotype": "protein_coding",
          "start": 136191468,
          "end": 136193162,
          "strand": "-",
          "slug": "smim32"
        },
        {
          "symbol": "TRPC7",
          "ensemblId": "ENSG00000069018",
          "biotype": "protein_coding",
          "start": 136212745,
          "end": 136365545,
          "strand": "-",
          "slug": "trpc7"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-corneal-dystrophies",
        "name": "Distrofii corneene ereditare",
        "diseases": [
          {
            "mondoId": "MONDO:0018102",
            "name": "Distrofie corneeană",
            "genes": 19,
            "inheritance": null,
            "description": "Un grup de afecțiuni ereditare care afectează unul sau mai multe straturi ale corneei, inclusiv distrofia endotelială Fuchs (adesea asociată cu o expansiune de repetiții în TCF4), distrofiile granulare și reticulare asociate cu TGFBI și tipuri mai rare cauzate de gene precum SLC4A11, COL8A2, ZEB1 și CHST6.",
            "management": "Purtătorilor variantelor TGFBI li se recomandă, în general, să evite chirurgia refractivă cu laser (LASIK sau PRK), care poate agrava depozitele. Transplantul de cornee poate restabili vederea în cazul bolii avansate.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/hereditary-corneal-dystrophies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cornea-morphology",
        "name": "Abnormal cornea morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-cornea-morphology"
      },
      {
        "slug": "abnormal-corneal-epithelium-morphology",
        "name": "Abnormal corneal epithelium morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-corneal-epithelium-morphology"
      },
      {
        "slug": "astigmatism",
        "name": "Astigmatism",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/astigmatism"
      },
      {
        "slug": "blurred-vision",
        "name": "Blurred vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blurred-vision"
      },
      {
        "slug": "central-corneal-dystrophy",
        "name": "Central corneal dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/central-corneal-dystrophy"
      },
      {
        "slug": "central-opacification-of-the-cornea",
        "name": "Central opacification of the cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/central-opacification-of-the-cornea"
      },
      {
        "slug": "central-posterior-corneal-opacity",
        "name": "Central posterior corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/central-posterior-corneal-opacity"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "corneal-crystals",
        "name": "Corneal crystals",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/corneal-crystals"
      },
      {
        "slug": "corneal-dystrophy",
        "name": "Corneal dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/corneal-dystrophy"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "corneal-scarring",
        "name": "Corneal scarring",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/corneal-scarring"
      },
      {
        "slug": "corneal-stromal-edema",
        "name": "Corneal stromal edema",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/corneal-stromal-edema"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "corneal-erosion",
        "name": "Damage to outer layer of the cornea of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/corneal-erosion"
      },
      {
        "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": "decreased-corneal-sensation",
        "name": "Decreased corneal sensation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-corneal-sensation"
      },
      {
        "slug": "episodic-pain",
        "name": "Episodic pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/episodic-pain"
      },
      {
        "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": "ocular-pain",
        "name": "Eye pain",
        "systems": [
          "abnormality-of-the-eye",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ocular-pain"
      },
      {
        "slug": "palpebral-edema",
        "name": "Fullness of eyelids",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/palpebral-edema"
      },
      {
        "slug": "granular-corneal-dystrophy",
        "name": "Granular corneal dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/granular-corneal-dystrophy"
      },
      {
        "slug": "juvenile-epithelial-corneal-dystrophy",
        "name": "Juvenile epithelial corneal dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/juvenile-epithelial-corneal-dystrophy"
      },
      {
        "slug": "lattice-corneal-dystrophy",
        "name": "Lattice corneal dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lattice-corneal-dystrophy"
      },
      {
        "slug": "map-dot-fingerprint-corneal-dystrophy",
        "name": "Map-dot-fingerprint corneal dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/map-dot-fingerprint-corneal-dystrophy"
      },
      {
        "slug": "nodular-corneal-dystrophy",
        "name": "Nodular corneal dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/nodular-corneal-dystrophy"
      },
      {
        "slug": "opacification-of-the-corneal-stroma",
        "name": "Opacification of the corneal stroma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/opacification-of-the-corneal-stroma"
      },
      {
        "slug": "progressive-visual-loss",
        "name": "Progressive loss of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/progressive-visual-loss"
      },
      {
        "slug": "punctate-corneal-dystrophy",
        "name": "Punctate corneal dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/punctate-corneal-dystrophy"
      },
      {
        "slug": "recurrent-corneal-erosions",
        "name": "Recurrent breakdown of clear protective layer of eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-corneal-erosions"
      },
      {
        "slug": "red-eye",
        "name": "Red eye",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/red-eye"
      },
      {
        "slug": "high-myopia",
        "name": "Severe near sightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-myopia"
      },
      {
        "slug": "slow-decrease-in-visual-acuity",
        "name": "Slow decrease in sharpness of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/slow-decrease-in-visual-acuity"
      },
      {
        "slug": "subepithelial-corneal-opacities",
        "name": "Subepithelial corneal opacities",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/subepithelial-corneal-opacities"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-loss"
      }
    ],
    "related": [
      {
        "slug": "chst6",
        "symbol": "CHST6",
        "name": "carbohydrate sulfotransferase 6",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/chst6"
      },
      {
        "slug": "col17a1",
        "symbol": "COL17A1",
        "name": "collagen type XVII alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/col17a1"
      },
      {
        "slug": "col8a2",
        "symbol": "COL8A2",
        "name": "collagen type VIII alpha 2 chain",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/col8a2"
      },
      {
        "slug": "dcn",
        "symbol": "DCN",
        "name": "decorin",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/dcn"
      },
      {
        "slug": "grhl2",
        "symbol": "GRHL2",
        "name": "grainyhead like transcription factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/grhl2"
      },
      {
        "slug": "gsn",
        "symbol": "GSN",
        "name": "gelsolin",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/gsn"
      },
      {
        "slug": "krt12",
        "symbol": "KRT12",
        "name": "keratin 12",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/krt12"
      },
      {
        "slug": "krt3",
        "symbol": "KRT3",
        "name": "keratin 3",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/krt3"
      },
      {
        "slug": "mcoln1",
        "symbol": "MCOLN1",
        "name": "mucolipin TRP cation channel 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/mcoln1"
      },
      {
        "slug": "nlrp1",
        "symbol": "NLRP1",
        "name": "NLR family pyrin domain containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/nlrp1"
      },
      {
        "slug": "ovol2",
        "symbol": "OVOL2",
        "name": "ovo like zinc finger 2",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ovol2"
      },
      {
        "slug": "pikfyve",
        "symbol": "PIKFYVE",
        "name": "phosphoinositide kinase, FYVE-type zinc finger containing",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/pikfyve"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}