{
  "url": "https://dantelabs.com/ro/genes/gfi1",
  "gene": {
    "slug": "gfi1",
    "symbol": "GFI1",
    "name": "growth factor independent 1 transcriptional repressor",
    "hgnc": "HGNC:4237",
    "summary": null,
    "location": "1p22.1",
    "locusType": "gene with protein product",
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    "previousSymbols": [
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    "entrezId": 2672,
    "omim": [
      "600871"
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    "uniprot": [
      "Q99684"
    ],
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      "ensemblTranscript": "ENST00000294702.6",
      "refseqTranscript": "NM_005263.5",
      "ensemblProtein": "ENSP00000294702.5",
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      "end": 92952433,
      "strand": "-"
    },
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        {
          "symbol": "BRDT",
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          "end": 92014426,
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        {
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        {
          "symbol": "SETSIP",
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          "end": 92075411,
          "strand": "-",
          "slug": "setsip"
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        {
          "symbol": "BTBD8",
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          "end": 92245813,
          "strand": "+",
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        {
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          "biotype": "protein_coding",
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          "strand": "-",
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        },
        {
          "symbol": "RPAP2",
          "ensemblId": "ENSG00000122484",
          "biotype": "protein_coding",
          "start": 92299010,
          "end": 92438687,
          "strand": "+",
          "slug": "rpap2"
        },
        {
          "symbol": "EVI5",
          "ensemblId": "ENSG00000067208",
          "biotype": "protein_coding",
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          "strand": "-",
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        },
        {
          "symbol": "DIPK1A",
          "ensemblId": "ENSG00000154511",
          "biotype": "protein_coding",
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          "end": 92961522,
          "strand": "-",
          "slug": "dipk1a"
        },
        {
          "symbol": "RPL5",
          "ensemblId": "ENSG00000122406",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "rpl5"
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      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "severe-congenital-neutropenia",
        "name": "Neutropenie congenitală severă",
        "diseases": [
          {
            "mondoId": "MONDO:0018542",
            "name": "Neutropenie congenitală severă",
            "genes": 10,
            "inheritance": null,
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/severe-congenital-neutropenia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "acute-lymphoblastic-leukemia",
        "name": "Acute lymphoblastic leukemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acute-lymphoblastic-leukemia"
      },
      {
        "slug": "acute-myeloid-leukemia",
        "name": "Acute myeloid leukemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acute-myeloid-leukemia"
      },
      {
        "slug": "antineutrophil-antibody-positivity",
        "name": "Antineutrophil antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/antineutrophil-antibody-positivity"
      },
      {
        "slug": "aplastic-anemia",
        "name": "Aplastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplastic-anemia"
      },
      {
        "slug": "cellulitis",
        "name": "Bacterial infection of skin",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cellulitis"
      },
      {
        "slug": "leukemia",
        "name": "Blood cancer",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/leukemia"
      },
      {
        "slug": "decreased-total-lymphocyte-count",
        "name": "Decreased blood lymphocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "spontaneous-tooth-loss",
        "name": "Early tooth loss",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spontaneous-tooth-loss"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "periodontitis",
        "name": "Gum disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/periodontitis"
      },
      {
        "slug": "increased-total-eosinophil-count",
        "name": "High blood eosinophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-total-eosinophil-count"
      },
      {
        "slug": "increased-total-monocyte-count",
        "name": "High blood monocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-total-monocyte-count"
      },
      {
        "slug": "gingivitis",
        "name": "Inflamed gums",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gingivitis"
      },
      {
        "slug": "decreased-total-b-cell-count",
        "name": "Low B cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-total-b-cell-count"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "oral-ulcer",
        "name": "Mouth sore",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oral-ulcer"
      },
      {
        "slug": "myelodysplasia",
        "name": "Myelodysplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myelodysplasia"
      },
      {
        "slug": "rhinitis",
        "name": "Nasal inflammation",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/rhinitis"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "pharyngitis",
        "name": "Pharyngitis",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pharyngitis"
      },
      {
        "slug": "pneumonia",
        "name": "Pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pneumonia"
      },
      {
        "slug": "pyoderma-gangrenosum",
        "name": "Pyoderma gangrenosum",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pyoderma-gangrenosum"
      },
      {
        "slug": "recurrent-bacterial-infections",
        "name": "Recurrent bacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-bacterial-infections"
      },
      {
        "slug": "recurrent-aphthous-stomatitis",
        "name": "Recurrent canker sores",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-aphthous-stomatitis"
      },
      {
        "slug": "recurrent-ear-infections",
        "name": "Recurrent ear infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-ear-infections"
      },
      {
        "slug": "recurrent-infection-of-the-gastrointestinal-tract",
        "name": "Recurrent infection of the gastrointestinal tract",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-infection-of-the-gastrointestinal-tract"
      },
      {
        "slug": "recurrent-sinopulmonary-infections",
        "name": "Recurrent sinus and lung infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-sinopulmonary-infections"
      },
      {
        "slug": "recurrent-skin-infections",
        "name": "Recurrent skin infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-skin-infections"
      },
      {
        "slug": "recurrent-viral-infections",
        "name": "Recurrent viral infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-viral-infections"
      },
      {
        "slug": "hemangioma",
        "name": "Strawberry mark",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemangioma"
      }
    ],
    "related": [
      {
        "slug": "clpb",
        "symbol": "CLPB",
        "name": "ClpB family mitochondrial disaggregase",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/clpb"
      },
      {
        "slug": "csf3r",
        "symbol": "CSF3R",
        "name": "colony stimulating factor 3 receptor",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/csf3r"
      },
      {
        "slug": "cxcr2",
        "symbol": "CXCR2",
        "name": "C-X-C motif chemokine receptor 2",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/cxcr2"
      },
      {
        "slug": "g6pc3",
        "symbol": "G6PC3",
        "name": "glucose-6-phosphatase catalytic subunit 3",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/g6pc3"
      },
      {
        "slug": "hax1",
        "symbol": "HAX1",
        "name": "HCLS1 associated protein X-1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/hax1"
      },
      {
        "slug": "jagn1",
        "symbol": "JAGN1",
        "name": "jagunal vesicle mediated transporter 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/jagn1"
      },
      {
        "slug": "srp54",
        "symbol": "SRP54",
        "name": "signal recognition particle 54",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/srp54"
      },
      {
        "slug": "vps45",
        "symbol": "VPS45",
        "name": "vacuolar protein sorting 45 homolog",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/vps45"
      },
      {
        "slug": "was",
        "symbol": "WAS",
        "name": "WASP actin nucleation promoting factor",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/was"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}