{
  "url": "https://dantelabs.com/el/genes/adam17",
  "gene": {
    "slug": "adam17",
    "symbol": "ADAM17",
    "name": "ADAM metallopeptidase domain 17",
    "hgnc": "HGNC:195",
    "summary": null,
    "location": "2p25.1",
    "locusType": "gene with protein product",
    "aliases": [
      "cSVP",
      "CD156B"
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    "previousSymbols": [
      "TACE"
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    "entrezId": 6868,
    "omim": [
      "603639"
    ],
    "uniprot": [
      "P78536"
    ],
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      "release": "v1.5",
      "chrom": "2",
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      "end": 9555830,
      "strand": "-",
      "ensemblTranscript": "ENST00000310823.8",
      "refseqTranscript": "NM_003183.6",
      "ensemblProtein": "ENSP00000309968.3",
      "refseqProtein": "NP_003174.3",
      "exons": [
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      ],
      "cds": {
        "start": 9490177,
        "end": 9555605
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 9628615,
      "end": 9695921,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 9022158,
      "end": 10022157,
      "genes": [
        {
          "symbol": "ASAP2",
          "ensemblId": "ENSG00000151693",
          "biotype": "protein_coding",
          "start": 9206602,
          "end": 9405683,
          "strand": "+",
          "slug": "asap2"
        },
        {
          "symbol": "ITGB1BP1",
          "ensemblId": "ENSG00000119185",
          "biotype": "protein_coding",
          "start": 9402707,
          "end": 9423891,
          "strand": "-",
          "slug": "itgb1bp1"
        },
        {
          "symbol": "CPSF3",
          "ensemblId": "ENSG00000119203",
          "biotype": "protein_coding",
          "start": 9423623,
          "end": 9473117,
          "strand": "+",
          "slug": "cpsf3"
        },
        {
          "symbol": "IAH1",
          "ensemblId": "ENSG00000134330",
          "biotype": "protein_coding",
          "start": 9473658,
          "end": 9500587,
          "strand": "+",
          "slug": "iah1"
        },
        {
          "symbol": "YWHAQ",
          "ensemblId": "ENSG00000134308",
          "biotype": "protein_coding",
          "start": 9583334,
          "end": 9639472,
          "strand": "-",
          "slug": "ywhaq"
        },
        {
          "symbol": "TAF1B",
          "ensemblId": "ENSG00000115750",
          "biotype": "protein_coding",
          "start": 9843340,
          "end": 9934994,
          "strand": "+",
          "slug": "taf1b"
        },
        {
          "symbol": "GRHL1",
          "ensemblId": "ENSG00000134317",
          "biotype": "protein_coding",
          "start": 9951678,
          "end": 10002355,
          "strand": "+",
          "slug": "grhl1"
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      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "inflammatory-bowel-diseases-ibd-74",
        "name": "Φλεγμονώδεις νόσοι του εντέρου (IBD)",
        "diseases": [
          {
            "mondoId": "MONDO:0005265",
            "name": "Φλεγμονώδης νόσος του εντέρου",
            "genes": 5,
            "inheritance": null,
            "description": "Ένα φάσμα φλεγμονωδών νοσημάτων του λεπτού και του παχέος εντέρου αγνώστου αιτιολογίας. Περιλαμβάνει τη νόσο του Crohn, την ελκώδη κολίτιδα και την κολίτιδα απροσδιόριστου τύπου.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/inflammatory-bowel-diseases-ibd-74"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "woolly-hair",
        "name": "Afro-textured hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/woolly-hair"
      },
      {
        "slug": "anal-fissure",
        "name": "Anal fissure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anal-fissure"
      },
      {
        "slug": "bloody-diarrhea",
        "name": "Bloody diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bloody-diarrhea"
      },
      {
        "slug": "brittle-hair",
        "name": "Brittle hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/brittle-hair"
      },
      {
        "slug": "chapped-lip",
        "name": "Chapped lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chapped-lip"
      },
      {
        "slug": "chronic-monilial-nail-infection",
        "name": "Chronic monilial nail infection",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-monilial-nail-infection"
      },
      {
        "slug": "duodenitis",
        "name": "Duodenitis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/duodenitis"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "generalized-abnormality-of-skin",
        "name": "Generalized abnormality of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-abnormality-of-skin"
      },
      {
        "slug": "horizontal-eyebrow",
        "name": "Horizontal eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/horizontal-eyebrow"
      },
      {
        "slug": "increased-circulating-ige-concentration",
        "name": "Increased circulating IgE concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-ige-concentration"
      },
      {
        "slug": "blepharitis",
        "name": "Inflammation of eyelids",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/blepharitis"
      },
      {
        "slug": "left-ventricular-hypertrophy",
        "name": "Left ventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/left-ventricular-hypertrophy"
      },
      {
        "slug": "paronychia",
        "name": "Paronychia",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/paronychia"
      },
      {
        "slug": "patchy-alopecia",
        "name": "Patchy baldness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/patchy-alopecia"
      },
      {
        "slug": "perianal-erythema",
        "name": "Perianal erythema",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/perianal-erythema"
      },
      {
        "slug": "perianal-dermatitis",
        "name": "Perianal rash",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/perianal-dermatitis"
      },
      {
        "slug": "perioral-erythema",
        "name": "Perioral erythema",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/perioral-erythema"
      },
      {
        "slug": "pustule",
        "name": "Pimple",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pustule"
      },
      {
        "slug": "psoriasiform-dermatitis",
        "name": "Psoriasiform dermatitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/psoriasiform-dermatitis"
      },
      {
        "slug": "recurrent-bacterial-skin-infections",
        "name": "Recurrent bacterial skin infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-bacterial-skin-infections"
      },
      {
        "slug": "recurrent-gastroenteritis",
        "name": "Recurrent gastroenteritis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-gastroenteritis"
      },
      {
        "slug": "erythroderma",
        "name": "Red scaly skin caused by inflammatory skin disease",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/erythroderma"
      },
      {
        "slug": "erythema",
        "name": "Redness of skin or mucous membrane",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/erythema"
      },
      {
        "slug": "scaling-skin",
        "name": "Scaling skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scaling-skin"
      },
      {
        "slug": "slow-growing-hair",
        "name": "Slow-growing hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/slow-growing-hair"
      },
      {
        "slug": "slow-growing-scalp-hair",
        "name": "Slow-growing scalp hair",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/slow-growing-scalp-hair"
      },
      {
        "slug": "sparse-hair",
        "name": "Sparse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/sparse-hair"
      },
      {
        "slug": "sparse-scalp-hair",
        "name": "Sparse scalp hair",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/sparse-scalp-hair"
      },
      {
        "slug": "otitis-externa",
        "name": "Swimmer's ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/otitis-externa"
      },
      {
        "slug": "onychogryphosis",
        "name": "Thick nail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/onychogryphosis"
      },
      {
        "slug": "villous-atrophy",
        "name": "Villous atrophy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/villous-atrophy"
      }
    ],
    "related": [
      {
        "slug": "egfr",
        "symbol": "EGFR",
        "name": "epidermal growth factor receptor",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/egfr"
      },
      {
        "slug": "il10",
        "symbol": "IL10",
        "name": "interleukin 10",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/il10"
      },
      {
        "slug": "il10ra",
        "symbol": "IL10RA",
        "name": "interleukin 10 receptor subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/il10ra"
      },
      {
        "slug": "il10rb",
        "symbol": "IL10RB",
        "name": "interleukin 10 receptor subunit beta",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/il10rb"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}