{
  "url": "https://dantelabs.com/sv/genes/cldn1",
  "gene": {
    "slug": "cldn1",
    "symbol": "CLDN1",
    "name": "claudin 1",
    "hgnc": "HGNC:2032",
    "summary": null,
    "location": "3q28",
    "locusType": "gene with protein product",
    "aliases": [
      "SEMP1",
      "ILVASC"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000163347",
    "entrezId": 9076,
    "omim": [
      "603718"
    ],
    "uniprot": [
      "O95832"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 190305707,
      "end": 190322446,
      "strand": "-",
      "ensemblTranscript": "ENST00000295522.4",
      "refseqTranscript": "NM_021101.5",
      "ensemblProtein": "ENSP00000295522.3",
      "refseqProtein": "NP_066924.1",
      "exons": [
        {
          "start": 190305707,
          "end": 190308439
        },
        {
          "start": 190310169,
          "end": 190310253
        },
        {
          "start": 190312872,
          "end": 190313036
        },
        {
          "start": 190321984,
          "end": 190322446
        }
      ],
      "cds": {
        "start": 190308277,
        "end": 190322206
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 190023490,
      "end": 190040264,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 189814077,
      "end": 190814076,
      "genes": [
        {
          "symbol": "TP63",
          "ensemblId": "ENSG00000073282",
          "biotype": "protein_coding",
          "start": 189631252,
          "end": 189897276,
          "strand": "+",
          "slug": "tp63"
        },
        {
          "symbol": "P3H2",
          "ensemblId": "ENSG00000090530",
          "biotype": "protein_coding",
          "start": 189956728,
          "end": 190122437,
          "strand": "-",
          "slug": "p3h2"
        },
        {
          "symbol": "CLDN16",
          "ensemblId": "ENSG00000113946",
          "biotype": "protein_coding",
          "start": 190322522,
          "end": 190412460,
          "strand": "+",
          "slug": "cldn16"
        },
        {
          "symbol": "TMEM207",
          "ensemblId": "ENSG00000198398",
          "biotype": "protein_coding",
          "start": 190428655,
          "end": 190449901,
          "strand": "-",
          "slug": "tmem207"
        },
        {
          "symbol": "IL1RAP",
          "ensemblId": "ENSG00000196083",
          "biotype": "protein_coding",
          "start": 190487420,
          "end": 190659750,
          "strand": "+",
          "slug": "il1rap"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "inherited-ichthyoses",
        "name": "Ärftliga ichtyoser",
        "diseases": [
          {
            "mondoId": "MONDO:0011874",
            "name": "Neonatalt ichtyos-skleroserande kolangit-syndrom",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "En sällsynt CLDN1-sjukdom som kombinerar ichtyos med håravfall i hårbotten och inflammation i gallgångarna under spädbarnstiden.",
            "management": "Uppföljning av levern rekommenderas.",
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/inherited-ichthyoses"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-dental-enamel-morphology",
        "name": "Abnormal tooth enamel",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-dental-enamel-morphology"
      },
      {
        "slug": "bile-duct-proliferation",
        "name": "Bile duct proliferation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bile-duct-proliferation"
      },
      {
        "slug": "acanthosis-nigricans",
        "name": "Darkened and thickened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acanthosis-nigricans"
      },
      {
        "slug": "dry-skin",
        "name": "Dry skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/dry-skin"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "hypodontia",
        "name": "Failure of development of between one and six teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypodontia"
      },
      {
        "slug": "oligodontia",
        "name": "Failure of development of more than six teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oligodontia"
      },
      {
        "slug": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "scarring-alopecia-of-scalp",
        "name": "Hair loss on scalp from scarring condition",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/scarring-alopecia-of-scalp"
      },
      {
        "slug": "hepatic-fibrosis",
        "name": "Hepatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatic-fibrosis"
      },
      {
        "slug": "ichthyosis",
        "name": "Ichthyosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ichthyosis"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "intrahepatic-biliary-atresia",
        "name": "Intrahepatic biliary atresia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intrahepatic-biliary-atresia"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "hepatic-failure",
        "name": "Liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatic-failure"
      },
      {
        "slug": "orthokeratosis",
        "name": "Orthokeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/orthokeratosis"
      },
      {
        "slug": "parakeratosis",
        "name": "Parakeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/parakeratosis"
      },
      {
        "slug": "portal-hypertension",
        "name": "Portal hypertension",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/portal-hypertension"
      },
      {
        "slug": "sclerosing-cholangitis",
        "name": "Sclerosing cholangitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sclerosing-cholangitis"
      },
      {
        "slug": "cholestasis",
        "name": "Slowed or blocked flow of bile from liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cholestasis"
      },
      {
        "slug": "sparse-body-hair",
        "name": "Sparse body hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sparse-body-hair"
      },
      {
        "slug": "sparse-eyebrow",
        "name": "Sparse eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-eyebrow"
      },
      {
        "slug": "sparse-eyelashes",
        "name": "Sparse eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sparse-eyelashes"
      },
      {
        "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"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sparse-scalp-hair"
      },
      {
        "slug": "thick-hair",
        "name": "Thick hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/thick-hair"
      },
      {
        "slug": "epidermal-acanthosis",
        "name": "Thickening of upper layer of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/epidermal-acanthosis"
      },
      {
        "slug": "enamel-hypoplasia",
        "name": "Thin dental enamel",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/enamel-hypoplasia"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}