{
  "url": "https://dantelabs.com/no/genes/cd2ap",
  "gene": {
    "slug": "cd2ap",
    "symbol": "CD2AP",
    "name": "CD2 associated protein",
    "hgnc": "HGNC:14258",
    "summary": null,
    "location": "6p12.3",
    "locusType": "gene with protein product",
    "aliases": [
      "CMS"
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    "previousSymbols": [],
    "ensemblId": "ENSG00000198087",
    "entrezId": 23607,
    "omim": [
      "604241"
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    "uniprot": [
      "Q9Y5K6"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 47477789,
      "end": 47627263,
      "strand": "+",
      "ensemblTranscript": "ENST00000359314.5",
      "refseqTranscript": "NM_012120.3",
      "ensemblProtein": "ENSP00000352264.5",
      "refseqProtein": "NP_036252.1",
      "exons": [
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        {
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        {
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        },
        {
          "start": 47624186,
          "end": 47627263
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      ],
      "cds": {
        "start": 47478245,
        "end": 47624227
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 47445525,
      "end": 47594999,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 47052526,
      "end": 48052525,
      "genes": [
        {
          "symbol": "TNFRSF21",
          "ensemblId": "ENSG00000146072",
          "biotype": "protein_coding",
          "start": 47231531,
          "end": 47310006,
          "strand": "-",
          "slug": "tnfrsf21"
        },
        {
          "symbol": "ADGRF4",
          "ensemblId": "ENSG00000153294",
          "biotype": "protein_coding",
          "start": 47685864,
          "end": 47722021,
          "strand": "+",
          "slug": "adgrf4"
        },
        {
          "symbol": "OPN5",
          "ensemblId": "ENSG00000124818",
          "biotype": "protein_coding",
          "start": 47781982,
          "end": 47832780,
          "strand": "+",
          "slug": "opn5"
        },
        {
          "symbol": "PTCHD4",
          "ensemblId": "ENSG00000244694",
          "biotype": "protein_coding",
          "start": 47856673,
          "end": 48111212,
          "strand": "-",
          "slug": "ptchd4"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "focal-segmental-glomerulosclerosis",
        "name": "Fokal segmental glomerulosklerose",
        "diseases": [
          {
            "mondoId": "MONDO:0011917",
            "name": "FSGS-mottakelighet (CD2AP)",
            "genes": 1,
            "inheritance": null,
            "description": "Varianter i CD2AP øker mottakeligheten for fokal segmental glomerulosklerose, med ufullstendig penetrans.",
            "management": "Å vite dette kan gi grunn til jevnlige kontroller av protein i urinen og nyrefunksjon.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/focal-segmental-glomerulosclerosis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "systems": [],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      },
      {
        "slug": "hematuria",
        "name": "Blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hematuria"
      },
      {
        "slug": "chronic-kidney-disease",
        "name": "Chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-kidney-disease"
      },
      {
        "slug": "diffuse-mesangial-sclerosis",
        "name": "Diffuse mesangial sclerosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diffuse-mesangial-sclerosis"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "edema",
        "name": "Fluid retention",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/edema"
      },
      {
        "slug": "foamy-urine",
        "name": "Foamy urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/foamy-urine"
      },
      {
        "slug": "focal-segmental-glomerulosclerosis",
        "name": "Focal segmental glomerulosclerosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/focal-segmental-glomerulosclerosis"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "hypoalbuminemia",
        "name": "Low albumin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoalbuminemia"
      },
      {
        "slug": "minimal-change-glomerulonephritis",
        "name": "Minimal change glomerulonephritis",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/minimal-change-glomerulonephritis"
      },
      {
        "slug": "periorbital-edema",
        "name": "Periorbital edema",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/periorbital-edema"
      },
      {
        "slug": "peritonitis",
        "name": "Peritonitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/peritonitis"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "respiratory-tract-infection",
        "name": "Respiratory tract infection",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-tract-infection"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}