{
  "url": "https://dantelabs.com/fi/genes/ubiad1",
  "gene": {
    "slug": "ubiad1",
    "symbol": "UBIAD1",
    "name": "UbiA prenyltransferase domain containing 1",
    "hgnc": "HGNC:30791",
    "summary": null,
    "location": "1p36.22",
    "locusType": "gene with protein product",
    "aliases": [
      "TERE1"
    ],
    "previousSymbols": [
      "SCCD"
    ],
    "ensemblId": "ENSG00000120942",
    "entrezId": 29914,
    "omim": [
      "611632"
    ],
    "uniprot": [
      "Q9Y5Z9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 11273198,
      "end": 11288434,
      "strand": "+",
      "ensemblTranscript": "ENST00000376810.6",
      "refseqTranscript": "NM_013319.3",
      "ensemblProtein": "ENSP00000366006.5",
      "refseqProtein": "NP_037451.1",
      "exons": [
        {
          "start": 11273198,
          "end": 11274060
        },
        {
          "start": 11285644,
          "end": 11288434
        }
      ],
      "cds": {
        "start": 11273532,
        "end": 11286131
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 11333263,
      "end": 11356106,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 10780816,
      "end": 11780815,
      "genes": [
        {
          "symbol": "CASZ1",
          "ensemblId": "ENSG00000130940",
          "biotype": "protein_coding",
          "start": 10636601,
          "end": 10796658,
          "strand": "-",
          "slug": "casz1"
        },
        {
          "symbol": "CIROZ",
          "ensemblId": "ENSG00000175262",
          "biotype": "protein_coding",
          "start": 10946471,
          "end": 10982076,
          "strand": "-",
          "slug": "ciroz"
        },
        {
          "symbol": "TARDBP",
          "ensemblId": "ENSG00000120948",
          "biotype": "protein_coding",
          "start": 11012344,
          "end": 11037991,
          "strand": "+",
          "slug": "tardbp"
        },
        {
          "symbol": "MASP2",
          "ensemblId": "ENSG00000009724",
          "biotype": "protein_coding",
          "start": 11022009,
          "end": 11047273,
          "strand": "-",
          "slug": "masp2"
        },
        {
          "symbol": "SRM",
          "ensemblId": "ENSG00000116649",
          "biotype": "protein_coding",
          "start": 11054584,
          "end": 11060078,
          "strand": "-",
          "slug": "srm"
        },
        {
          "symbol": "EXOSC10",
          "ensemblId": "ENSG00000171824",
          "biotype": "protein_coding",
          "start": 11066613,
          "end": 11099907,
          "strand": "-",
          "slug": "exosc10"
        },
        {
          "symbol": "MTOR",
          "ensemblId": "ENSG00000198793",
          "biotype": "protein_coding",
          "start": 11106531,
          "end": 11262556,
          "strand": "-",
          "slug": "mtor"
        },
        {
          "symbol": "ANGPTL7",
          "ensemblId": "ENSG00000171819",
          "biotype": "protein_coding",
          "start": 11189348,
          "end": 11195981,
          "strand": "+",
          "slug": "angptl7"
        },
        {
          "symbol": "DISP3",
          "ensemblId": "ENSG00000204624",
          "biotype": "protein_coding",
          "start": 11478905,
          "end": 11537583,
          "strand": "+",
          "slug": "disp3"
        },
        {
          "symbol": "FBXO2",
          "ensemblId": "ENSG00000116661",
          "biotype": "protein_coding",
          "start": 11637018,
          "end": 11655785,
          "strand": "-",
          "slug": "fbxo2"
        },
        {
          "symbol": "FBXO44",
          "ensemblId": "ENSG00000132879",
          "biotype": "protein_coding",
          "start": 11650618,
          "end": 11663327,
          "strand": "+",
          "slug": "fbxo44"
        },
        {
          "symbol": "MAD2L2",
          "ensemblId": "ENSG00000116670",
          "biotype": "protein_coding",
          "start": 11657230,
          "end": 11692605,
          "strand": "-",
          "slug": "mad2l2"
        },
        {
          "symbol": "FBXO6",
          "ensemblId": "ENSG00000116663",
          "biotype": "protein_coding",
          "start": 11664141,
          "end": 11674354,
          "strand": "+",
          "slug": "fbxo6"
        },
        {
          "symbol": "DRAXIN",
          "ensemblId": "ENSG00000162490",
          "biotype": "protein_coding",
          "start": 11690958,
          "end": 11725857,
          "strand": "+",
          "slug": "draxin"
        },
        {
          "symbol": "AGTRAP",
          "ensemblId": "ENSG00000177674",
          "biotype": "protein_coding",
          "start": 11736070,
          "end": 11754802,
          "strand": "+",
          "slug": "agtrap"
        },
        {
          "symbol": "C1orf167",
          "ensemblId": "ENSG00000215910",
          "biotype": "protein_coding",
          "start": 11761787,
          "end": 11789585,
          "strand": "+",
          "slug": "c1orf167"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-corneal-dystrophies",
        "name": "Perinnölliset sarveiskalvon dystrofiat",
        "diseases": [
          {
            "mondoId": "MONDO:0018102",
            "name": "Sarveiskalvon dystrofia",
            "genes": 19,
            "inheritance": null,
            "description": "Ryhmä perinnöllisiä sairauksia, jotka vaikuttavat yhteen tai useampaan sarveiskalvon kerrokseen. Niihin kuuluvat Fuchsin endoteelidystrofia (usein yhteydessä TCF4-toistojakson laajentumaan), TGFBI-geeniin liittyvät granulaarinen ja hilamainen dystrofia sekä harvinaisemmat tyypit, joita aiheuttavat geenit, kuten SLC4A11, COL8A2, ZEB1 ja CHST6.",
            "management": "TGFBI-varianttien kantajille suositellaan yleensä, että he välttävät laserilla tehtäviä taittovirhekorjauksia (LASIK tai PRK), koska ne voivat pahentaa kertymiä. Edennyt sairaus voidaan hoitaa sarveiskalvonsiirrolla, joka voi palauttaa näön.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/hereditary-corneal-dystrophies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "central-opacification-of-the-cornea",
        "name": "Central opacification of the cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/central-opacification-of-the-cornea"
      },
      {
        "slug": "corneal-arcus",
        "name": "Corneal arcus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/corneal-arcus"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      }
    ],
    "related": [
      {
        "slug": "chst6",
        "symbol": "CHST6",
        "name": "carbohydrate sulfotransferase 6",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/chst6"
      },
      {
        "slug": "col17a1",
        "symbol": "COL17A1",
        "name": "collagen type XVII alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/col17a1"
      },
      {
        "slug": "col8a2",
        "symbol": "COL8A2",
        "name": "collagen type VIII alpha 2 chain",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/col8a2"
      },
      {
        "slug": "dcn",
        "symbol": "DCN",
        "name": "decorin",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/dcn"
      },
      {
        "slug": "grhl2",
        "symbol": "GRHL2",
        "name": "grainyhead like transcription factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/grhl2"
      },
      {
        "slug": "gsn",
        "symbol": "GSN",
        "name": "gelsolin",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/gsn"
      },
      {
        "slug": "krt12",
        "symbol": "KRT12",
        "name": "keratin 12",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/krt12"
      },
      {
        "slug": "krt3",
        "symbol": "KRT3",
        "name": "keratin 3",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/krt3"
      },
      {
        "slug": "mcoln1",
        "symbol": "MCOLN1",
        "name": "mucolipin TRP cation channel 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/mcoln1"
      },
      {
        "slug": "nlrp1",
        "symbol": "NLRP1",
        "name": "NLR family pyrin domain containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/nlrp1"
      },
      {
        "slug": "ovol2",
        "symbol": "OVOL2",
        "name": "ovo like zinc finger 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/ovol2"
      },
      {
        "slug": "pikfyve",
        "symbol": "PIKFYVE",
        "name": "phosphoinositide kinase, FYVE-type zinc finger containing",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/pikfyve"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}