{
  "url": "https://dantelabs.com/it/genes/cd70",
  "gene": {
    "slug": "cd70",
    "symbol": "CD70",
    "name": "CD70 molecule",
    "hgnc": "HGNC:11937",
    "summary": null,
    "location": "19p13.3",
    "locusType": "gene with protein product",
    "aliases": [
      "CD27L",
      "CD27-L"
    ],
    "previousSymbols": [
      "CD27LG",
      "TNFSF7"
    ],
    "ensemblId": "ENSG00000125726",
    "entrezId": 970,
    "omim": [
      "602840"
    ],
    "uniprot": [
      "P32970"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "19",
      "start": 6585839,
      "end": 6591150,
      "strand": "-",
      "ensemblTranscript": "ENST00000245903.4",
      "refseqTranscript": "NM_001252.5",
      "ensemblProtein": "ENSP00000245903.2",
      "refseqProtein": "NP_001243.1",
      "exons": [
        {
          "start": 6585839,
          "end": 6586405
        },
        {
          "start": 6590103,
          "end": 6590136
        },
        {
          "start": 6590841,
          "end": 6591150
        }
      ],
      "cds": {
        "start": 6586020,
        "end": 6591002
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "19",
      "start": 6583194,
      "end": 6604114,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 6088495,
      "end": 7088494,
      "genes": [
        {
          "symbol": "RFX2",
          "ensemblId": "ENSG00000087903",
          "biotype": "protein_coding",
          "start": 5993164,
          "end": 6199572,
          "strand": "-",
          "slug": "rfx2"
        },
        {
          "symbol": "ACSBG2",
          "ensemblId": "ENSG00000130377",
          "biotype": "protein_coding",
          "start": 6135247,
          "end": 6193094,
          "strand": "+",
          "slug": "acsbg2"
        },
        {
          "symbol": "MLLT1",
          "ensemblId": "ENSG00000130382",
          "biotype": "protein_coding",
          "start": 6210377,
          "end": 6280029,
          "strand": "-",
          "slug": "mllt1"
        },
        {
          "symbol": "ACER1",
          "ensemblId": "ENSG00000167769",
          "biotype": "protein_coding",
          "start": 6306030,
          "end": 6333612,
          "strand": "-",
          "slug": "acer1"
        },
        {
          "symbol": "CLPP",
          "ensemblId": "ENSG00000125656",
          "biotype": "protein_coding",
          "start": 6361427,
          "end": 6370242,
          "strand": "+",
          "slug": "clpp"
        },
        {
          "symbol": "ALKBH7",
          "ensemblId": "ENSG00000125652",
          "biotype": "protein_coding",
          "start": 6372715,
          "end": 6377261,
          "strand": "+",
          "slug": "alkbh7"
        },
        {
          "symbol": "PSPN",
          "ensemblId": "ENSG00000125650",
          "biotype": "protein_coding",
          "start": 6375148,
          "end": 6379058,
          "strand": "-",
          "slug": "pspn"
        },
        {
          "symbol": "GTF2F1",
          "ensemblId": "ENSG00000125651",
          "biotype": "protein_coding",
          "start": 6379545,
          "end": 6393981,
          "strand": "-",
          "slug": "gtf2f1"
        },
        {
          "symbol": "KHSRP",
          "ensemblId": "ENSG00000088247",
          "biotype": "protein_coding",
          "start": 6413102,
          "end": 6424824,
          "strand": "-",
          "slug": "khsrp"
        },
        {
          "symbol": "SLC25A41",
          "ensemblId": "ENSG00000181240",
          "biotype": "protein_coding",
          "start": 6426037,
          "end": 6433779,
          "strand": "-",
          "slug": "slc25a41"
        },
        {
          "symbol": "SLC25A23",
          "ensemblId": "ENSG00000125648",
          "biotype": "protein_coding",
          "start": 6436068,
          "end": 6465203,
          "strand": "-",
          "slug": "slc25a23"
        },
        {
          "symbol": "CRB3",
          "ensemblId": "ENSG00000130545",
          "biotype": "protein_coding",
          "start": 6463777,
          "end": 6467239,
          "strand": "+",
          "slug": "crb3"
        },
        {
          "symbol": "DENND1C",
          "ensemblId": "ENSG00000205744",
          "biotype": "protein_coding",
          "start": 6467207,
          "end": 6482557,
          "strand": "-",
          "slug": "dennd1c"
        },
        {
          "symbol": "TUBB4A",
          "ensemblId": "ENSG00000104833",
          "biotype": "protein_coding",
          "start": 6494308,
          "end": 6502848,
          "strand": "-",
          "slug": "tubb4a"
        },
        {
          "symbol": "TNFSF9",
          "ensemblId": "ENSG00000125657",
          "biotype": "protein_coding",
          "start": 6530985,
          "end": 6535926,
          "strand": "+",
          "slug": "tnfsf9"
        },
        {
          "symbol": "TNFSF14",
          "ensemblId": "ENSG00000125735",
          "biotype": "protein_coding",
          "start": 6658085,
          "end": 6670621,
          "strand": "-",
          "slug": "tnfsf14"
        },
        {
          "symbol": "C3",
          "ensemblId": "ENSG00000125730",
          "biotype": "protein_coding",
          "start": 6677704,
          "end": 6730562,
          "strand": "-",
          "slug": "c3"
        },
        {
          "symbol": "GPR108",
          "ensemblId": "ENSG00000125734",
          "biotype": "protein_coding",
          "start": 6729914,
          "end": 6737665,
          "strand": "-",
          "slug": "gpr108"
        },
        {
          "symbol": "TRIP10",
          "ensemblId": "ENSG00000125733",
          "biotype": "protein_coding",
          "start": 6737925,
          "end": 6751530,
          "strand": "+",
          "slug": "trip10"
        },
        {
          "symbol": "SH2D3A",
          "ensemblId": "ENSG00000125731",
          "biotype": "protein_coding",
          "start": 6751899,
          "end": 6768109,
          "strand": "-",
          "slug": "sh2d3a"
        },
        {
          "symbol": "VAV1",
          "ensemblId": "ENSG00000141968",
          "biotype": "protein_coding",
          "start": 6772676,
          "end": 6857366,
          "strand": "+",
          "slug": "vav1"
        },
        {
          "symbol": "ADGRE1",
          "ensemblId": "ENSG00000174837",
          "biotype": "protein_coding",
          "start": 6887530,
          "end": 6940459,
          "strand": "+",
          "slug": "adgre1"
        },
        {
          "symbol": "MBD3L2B",
          "ensemblId": "ENSG00000196589",
          "biotype": "protein_coding",
          "start": 7018969,
          "end": 7021431,
          "strand": "-",
          "slug": "mbd3l2b"
        },
        {
          "symbol": "MBD3L5",
          "ensemblId": "ENSG00000237247",
          "biotype": "protein_coding",
          "start": 7030578,
          "end": 7033011,
          "strand": "+",
          "slug": "mbd3l5"
        },
        {
          "symbol": "MBD3L4",
          "ensemblId": "ENSG00000205718",
          "biotype": "protein_coding",
          "start": 7037749,
          "end": 7040179,
          "strand": "-",
          "slug": "mbd3l4"
        },
        {
          "symbol": "MBD3L2",
          "ensemblId": "ENSG00000230522",
          "biotype": "protein_coding",
          "start": 7049321,
          "end": 7051735,
          "strand": "+",
          "slug": "mbd3l2"
        },
        {
          "symbol": "MBD3L3",
          "ensemblId": "ENSG00000182315",
          "biotype": "protein_coding",
          "start": 7056207,
          "end": 7069665,
          "strand": "-",
          "slug": "mbd3l3"
        },
        {
          "symbol": "ZNF557",
          "ensemblId": "ENSG00000130544",
          "biotype": "protein_coding",
          "start": 7069416,
          "end": 7096206,
          "strand": "+",
          "slug": "znf557"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "severe-combined-immunodeficiency",
        "name": "Immunodeficienza combinata grave",
        "diseases": [
          {
            "mondoId": "MONDO:0015974",
            "name": "Immunodeficienza combinata grave",
            "genes": 31,
            "inheritance": "autosomal-recessive",
            "description": "L'immunodeficienza combinata grave (SCID) comprende un gruppo di rare immunodeficienze primarie di origine monogenica, caratterizzate dalla mancanza di linfociti T periferici funzionali, che porta a infezioni respiratorie gravi a esordio precoce e a un ritardo nella crescita. Tali condizioni vengono classificate in base al fenotipo immunologico in SCID con assenza di cellule T ma presenza di cellule B (SCID T-B+) o SCID con assenza di entrambe (SCID T-B-). Entrambi i gruppi includono diverse forme, con o senza cellule natural killer (NK).",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/severe-combined-immunodeficiency"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Altri errori innati dell'immunità",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "Immunodeficienza primaria",
            "genes": 114,
            "inheritance": null,
            "description": "Malattie ereditarie del sistema immunitario causate da alterazioni di singoli geni, che influiscono sul modo in cui l'organismo combatte le infezioni o regola l'infiammazione.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          },
          {
            "mondoId": "MONDO:0021094",
            "name": "Malattia da immunodeficienza",
            "genes": 170,
            "inheritance": null,
            "description": "Malattia caratterizzata da un deficit o da un'anomalia nei meccanismi dell'immunità, sia essa cellulare o umorale.",
            "management": "HSCT per SCID e PID gravi; terapia sostitutiva con immunoglobuline (IVIG/SCIG) per i deficit anticorpali; leniolisib (Joenja, FDA 2023) per APDS; terapia genica per ADA-SCID; abatacept per il deficit di CTLA4/LRBA; profilassi antibiotica; G-CSF per CGD",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/it/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "decreased-circulating-immunoglobulin-concentration",
        "name": "Decreased circulating antibody level",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "hepatosplenomegaly",
        "name": "Enlarged liver and spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "slug": "recurrent-fever",
        "name": "Episodic fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-fever"
      },
      {
        "slug": "hodgkin-lymphoma",
        "name": "Hodgkin lymphoma",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hodgkin-lymphoma"
      },
      {
        "slug": "lymphoproliferative-disorder",
        "name": "Lymphoproliferative disorder",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/lymphoproliferative-disorder"
      },
      {
        "slug": "partial-absence-of-specific-antibody-response-to-tetanus-vaccine",
        "name": "Partial absence of specific antibody response to tetanus vaccine",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/partial-absence-of-specific-antibody-response-to-tetanus-vaccine"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "reduced-total-natural-killer-cell-count",
        "name": "Reduced total natural killer cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-total-natural-killer-cell-count"
      },
      {
        "slug": "severe-varicella-zoster-infection",
        "name": "Severe varicella zoster infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/severe-varicella-zoster-infection"
      },
      {
        "slug": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lymphadenopathy"
      }
    ],
    "related": [
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 3,
        "url": "https://dantelabs.com/it/genes/bcl11b"
      },
      {
        "slug": "card11",
        "symbol": "CARD11",
        "name": "caspase recruitment domain family member 11",
        "shared": 3,
        "url": "https://dantelabs.com/it/genes/card11"
      },
      {
        "slug": "ada",
        "symbol": "ADA",
        "name": "adenosine deaminase",
        "shared": 2,
        "url": "https://dantelabs.com/it/genes/ada"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 2,
        "url": "https://dantelabs.com/it/genes/aicda"
      },
      {
        "slug": "ak2",
        "symbol": "AK2",
        "name": "adenylate kinase 2",
        "shared": 2,
        "url": "https://dantelabs.com/it/genes/ak2"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/it/genes/atp6ap1"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 2,
        "url": "https://dantelabs.com/it/genes/bcl10"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 2,
        "url": "https://dantelabs.com/it/genes/blnk"
      },
      {
        "slug": "btk",
        "symbol": "BTK",
        "name": "Bruton tyrosine kinase",
        "shared": 2,
        "url": "https://dantelabs.com/it/genes/btk"
      },
      {
        "slug": "c1qa",
        "symbol": "C1QA",
        "name": "complement C1q A chain",
        "shared": 2,
        "url": "https://dantelabs.com/it/genes/c1qa"
      },
      {
        "slug": "c1qb",
        "symbol": "C1QB",
        "name": "complement C1q B chain",
        "shared": 2,
        "url": "https://dantelabs.com/it/genes/c1qb"
      },
      {
        "slug": "c1qc",
        "symbol": "C1QC",
        "name": "complement C1q C chain",
        "shared": 2,
        "url": "https://dantelabs.com/it/genes/c1qc"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}