{
  "url": "https://dantelabs.com/it/genes/gfi1b",
  "gene": {
    "slug": "gfi1b",
    "symbol": "GFI1B",
    "name": "growth factor independent 1B transcriptional repressor",
    "hgnc": "HGNC:4238",
    "summary": null,
    "location": "9q34.13",
    "locusType": "gene with protein product",
    "aliases": [
      "ZNF163B"
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    "previousSymbols": [],
    "ensemblId": "ENSG00000165702",
    "entrezId": 8328,
    "omim": [
      "604383"
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    "uniprot": [
      "Q5VTD9"
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      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "9",
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      "end": 132991687,
      "strand": "+",
      "ensemblTranscript": "ENST00000372122.4",
      "refseqTranscript": "NM_001377304.1",
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      "cds": {
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    },
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      "build": "GRCh37",
      "release": "87",
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      "strand": "+"
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    "neighbourhood": {
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          "symbol": "CFAP77",
          "ensemblId": "ENSG00000188523",
          "biotype": "protein_coding",
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        {
          "symbol": "DDX31",
          "ensemblId": "ENSG00000125485",
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          "strand": "-",
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        {
          "symbol": "BARHL1",
          "ensemblId": "ENSG00000125492",
          "biotype": "protein_coding",
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        {
          "symbol": "GTF3C4",
          "ensemblId": "ENSG00000125484",
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        {
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        {
          "symbol": "SPACA9",
          "ensemblId": "ENSG00000165698",
          "biotype": "protein_coding",
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          "slug": "spaca9"
        },
        {
          "symbol": "TSC1",
          "ensemblId": "ENSG00000165699",
          "biotype": "protein_coding",
          "start": 132891348,
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          "strand": "-",
          "slug": "tsc1"
        },
        {
          "symbol": "GTF3C5",
          "ensemblId": "ENSG00000148308",
          "biotype": "protein_coding",
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          "strand": "+",
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        {
          "symbol": "CEL",
          "ensemblId": "ENSG00000170835",
          "biotype": "protein_coding",
          "start": 133061981,
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          "strand": "+",
          "slug": "cel"
        },
        {
          "symbol": "RALGDS",
          "ensemblId": "ENSG00000160271",
          "biotype": "protein_coding",
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          "slug": "ralgds"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285245",
          "biotype": "protein_coding",
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        {
          "symbol": "GBGT1",
          "ensemblId": "ENSG00000148288",
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        {
          "symbol": "OBP2B",
          "ensemblId": "ENSG00000171102",
          "biotype": "protein_coding",
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          "strand": "-",
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        },
        {
          "symbol": "ABO",
          "ensemblId": "ENSG00000175164",
          "biotype": "protein_coding",
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          "slug": "abo"
        },
        {
          "symbol": "SURF6",
          "ensemblId": "ENSG00000148296",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "surf6"
        },
        {
          "symbol": "MED22",
          "ensemblId": "ENSG00000148297",
          "biotype": "protein_coding",
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          "end": 133348140,
          "strand": "-",
          "slug": "med22"
        },
        {
          "symbol": "RPL7A",
          "ensemblId": "ENSG00000148303",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "rpl7a"
        },
        {
          "symbol": "SURF1",
          "ensemblId": "ENSG00000148290",
          "biotype": "protein_coding",
          "start": 133351069,
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          "strand": "-",
          "slug": "surf1"
        },
        {
          "symbol": "SURF2",
          "ensemblId": "ENSG00000148291",
          "biotype": "protein_coding",
          "start": 133356520,
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          "strand": "+",
          "slug": "surf2"
        },
        {
          "symbol": "SURF4",
          "ensemblId": "ENSG00000148248",
          "biotype": "protein_coding",
          "start": 133361450,
          "end": 133376233,
          "strand": "-",
          "slug": "surf4"
        },
        {
          "symbol": "STKLD1",
          "ensemblId": "ENSG00000198870",
          "biotype": "protein_coding",
          "start": 133376332,
          "end": 133406096,
          "strand": "+",
          "slug": "stkld1"
        },
        {
          "symbol": "REXO4",
          "ensemblId": "ENSG00000148300",
          "biotype": "protein_coding",
          "start": 133406026,
          "end": 133418096,
          "strand": "-",
          "slug": "rexo4"
        },
        {
          "symbol": "ADAMTS13",
          "ensemblId": "ENSG00000160323",
          "biotype": "protein_coding",
          "start": 133414358,
          "end": 133459402,
          "strand": "+",
          "slug": "adamts13"
        },
        {
          "symbol": "CACFD1",
          "ensemblId": "ENSG00000160325",
          "biotype": "protein_coding",
          "start": 133459965,
          "end": 133470848,
          "strand": "+",
          "slug": "cacfd1"
        },
        {
          "symbol": "SLC2A6",
          "ensemblId": "ENSG00000160326",
          "biotype": "protein_coding",
          "start": 133462053,
          "end": 133479148,
          "strand": "-",
          "slug": "slc2a6"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "inherited-thrombocytopenias",
        "name": "Trombocitopenie ereditarie",
        "diseases": [
          {
            "mondoId": "MONDO:0100241",
            "name": "Trombocitopenia ereditaria",
            "genes": 33,
            "inheritance": null,
            "description": "Un gruppo di patologie che causano una bassa conta piastrinica per tutta la vita, associate a geni come MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 e MECOM, e trasmesse con modalità autosomica dominante, autosomica recessiva o legata al cromosoma X.",
            "management": "Una diagnosi genetica evita l'errata diagnosi di trombocitopenia immune, con il conseguente uso non necessario di steroidi o la rimozione della milza, e orienta il monitoraggio di eventuali problemi renali, uditivi o ematologici correlati.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/inherited-thrombocytopenias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "metrorrhagia",
        "name": "Abnormal uterus bleeding",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/metrorrhagia"
      },
      {
        "slug": "absence-of-alpha-granules",
        "name": "Absence of alpha granules",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absence-of-alpha-granules"
      },
      {
        "slug": "abnormal-bleeding",
        "name": "Bleeding tendency",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-bleeding"
      },
      {
        "slug": "epistaxis",
        "name": "Bloody nose",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/epistaxis"
      },
      {
        "slug": "bruising-susceptibility",
        "name": "Bruising susceptibility",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bruising-susceptibility"
      },
      {
        "slug": "ecchymosis",
        "name": "Ecchymosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/ecchymosis"
      },
      {
        "slug": "gastrointestinal-hemorrhage",
        "name": "Gastrointestinal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/gastrointestinal-hemorrhage"
      },
      {
        "slug": "impaired-collagen-induced-platelet-aggregation",
        "name": "Impaired collagen-induced platelet aggregation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-collagen-induced-platelet-aggregation"
      },
      {
        "slug": "impaired-epinephrine-induced-platelet-aggregation",
        "name": "Impaired epinephrine-induced platelet aggregation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-epinephrine-induced-platelet-aggregation"
      },
      {
        "slug": "increased-rbc-distribution-width",
        "name": "Increased RBC distribution width",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-rbc-distribution-width"
      },
      {
        "slug": "increased-mean-platelet-volume",
        "name": "Large platelets",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-mean-platelet-volume"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "macrothrombocytopenia",
        "name": "Macrothrombocytopenia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/macrothrombocytopenia"
      },
      {
        "slug": "myelofibrosis",
        "name": "Myelofibrosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myelofibrosis"
      },
      {
        "slug": "petechiae",
        "name": "Petechiae",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/petechiae"
      },
      {
        "slug": "platelet-anisocytosis",
        "name": "Platelet anisocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/platelet-anisocytosis"
      },
      {
        "slug": "prolonged-bleeding-after-dental-extraction",
        "name": "Prolonged bleeding after dental extraction",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prolonged-bleeding-after-dental-extraction"
      },
      {
        "slug": "prolonged-bleeding-after-surgery",
        "name": "Prolonged bleeding after surgery",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prolonged-bleeding-after-surgery"
      },
      {
        "slug": "prolonged-bleeding-following-procedure",
        "name": "Prolonged bleeding following procedure",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prolonged-bleeding-following-procedure"
      },
      {
        "slug": "prolonged-bleeding-time",
        "name": "Prolonged bleeding time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prolonged-bleeding-time"
      },
      {
        "slug": "reduced-prothrombin-consumption",
        "name": "Reduced prothrombin consumption",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/reduced-prothrombin-consumption"
      }
    ],
    "related": [
      {
        "slug": "actb",
        "symbol": "ACTB",
        "name": "actin beta",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/actb"
      },
      {
        "slug": "actn1",
        "symbol": "ACTN1",
        "name": "actinin alpha 1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/actn1"
      },
      {
        "slug": "adamts13",
        "symbol": "ADAMTS13",
        "name": "ADAM metallopeptidase with thrombospondin type 1 motif 13",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/adamts13"
      },
      {
        "slug": "ankrd26",
        "symbol": "ANKRD26",
        "name": "ankyrin repeat domain 26",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/ankrd26"
      },
      {
        "slug": "arpc1b",
        "symbol": "ARPC1B",
        "name": "actin related protein 2/3 complex subunit 1B",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/arpc1b"
      },
      {
        "slug": "cdc42",
        "symbol": "CDC42",
        "name": "cell division cycle 42",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/cdc42"
      },
      {
        "slug": "cycs",
        "symbol": "CYCS",
        "name": "cytochrome c, somatic",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/cycs"
      },
      {
        "slug": "diaph1",
        "symbol": "DIAPH1",
        "name": "diaphanous related formin 1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/diaph1"
      },
      {
        "slug": "etv6",
        "symbol": "ETV6",
        "name": "ETS variant transcription factor 6",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/etv6"
      },
      {
        "slug": "fli1",
        "symbol": "FLI1",
        "name": "Fli-1 proto-oncogene, ETS transcription factor",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/fli1"
      },
      {
        "slug": "fyb1",
        "symbol": "FYB1",
        "name": "FYN binding protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/fyb1"
      },
      {
        "slug": "gale",
        "symbol": "GALE",
        "name": "UDP-galactose-4-epimerase",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/gale"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}