{
  "url": "https://dantelabs.com/fr/genes/nos1ap",
  "gene": {
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    "symbol": "NOS1AP",
    "name": "nitric oxide synthase 1 adaptor protein",
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    "locusType": "gene with protein product",
    "aliases": [
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    "previousSymbols": [],
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      "O75052"
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      "ensemblTranscript": "ENST00000361897.10",
      "refseqTranscript": "NM_014697.3",
      "ensemblProtein": "ENSP00000355133.5",
      "refseqProtein": "NP_055512.1",
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      "build": "GRCh37",
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    },
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        {
          "symbol": "FCRLB",
          "ensemblId": "ENSG00000162746",
          "biotype": "protein_coding",
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        {
          "symbol": "DUSP12",
          "ensemblId": "ENSG00000081721",
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        {
          "symbol": "ATF6",
          "ensemblId": "ENSG00000118217",
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        {
          "symbol": "OLFML2B",
          "ensemblId": "ENSG00000162745",
          "biotype": "protein_coding",
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          "slug": "olfml2b"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000254706",
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        },
        {
          "symbol": "SPATA46",
          "ensemblId": "ENSG00000171722",
          "biotype": "protein_coding",
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          "strand": "-",
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        },
        {
          "symbol": "C1orf226",
          "ensemblId": "ENSG00000239887",
          "biotype": "protein_coding",
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          "slug": "c1orf226"
        },
        {
          "symbol": "SH2D1B",
          "ensemblId": "ENSG00000198574",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "sh2d1b"
        },
        {
          "symbol": "UHMK1",
          "ensemblId": "ENSG00000152332",
          "biotype": "protein_coding",
          "start": 162497251,
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        {
          "symbol": "UAP1",
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        {
          "symbol": "DDR2",
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          "strand": "+",
          "slug": "ddr2"
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      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "nephrotic-syndrome",
        "name": "Syndrome néphrotique",
        "diseases": [
          {
            "mondoId": "MONDO:0002331",
            "name": "Néphrose",
            "genes": 29,
            "inheritance": null,
            "description": "Processus pathologiques touchant les REINS, sans composante inflammatoire ni néoplasique. La néphrose peut être une affection primitive ou la complication secondaire d'autres maladies. Elle se caractérise par un SYNDROME NÉPHROTIQUE indiquant la présence d'une PROTÉINURIE et d'une HYPOALBUMINÉMIE, accompagnées d'ŒDÈMES.",
            "management": null,
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/nephrotic-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "hypoproteinemia",
        "name": "Decreased protein levels in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoproteinemia"
      },
      {
        "slug": "generalized-edema",
        "name": "Generalized edema",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-edema"
      },
      {
        "slug": "glomerular-sclerosis",
        "name": "Glomerular sclerosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/glomerular-sclerosis"
      },
      {
        "slug": "nephrotic-range-proteinuria",
        "name": "Nephrotic range proteinuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nephrotic-range-proteinuria"
      },
      {
        "slug": "nephrotic-syndrome",
        "name": "Nephrotic syndrome",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nephrotic-syndrome"
      },
      {
        "slug": "podocyte-foot-process-effacement",
        "name": "Podocyte foot process effacement",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/podocyte-foot-process-effacement"
      },
      {
        "slug": "microscopic-hematuria",
        "name": "Small amount of blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microscopic-hematuria"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      },
      {
        "slug": "thickened-glomerular-basement-membrane",
        "name": "Thickened glomerular basement membrane",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thickened-glomerular-basement-membrane"
      }
    ],
    "related": [
      {
        "slug": "actn4",
        "symbol": "ACTN4",
        "name": "actinin alpha 4",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/actn4"
      },
      {
        "slug": "arhgdia",
        "symbol": "ARHGDIA",
        "name": "Rho GDP dissociation inhibitor alpha",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arhgdia"
      },
      {
        "slug": "coq6",
        "symbol": "COQ6",
        "name": "coenzyme Q6, monooxygenase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/coq6"
      },
      {
        "slug": "coq8b",
        "symbol": "COQ8B",
        "name": "coenzyme Q8B",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/coq8b"
      },
      {
        "slug": "daam2",
        "symbol": "DAAM2",
        "name": "dishevelled associated activator of morphogenesis 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/daam2"
      },
      {
        "slug": "dgke",
        "symbol": "DGKE",
        "name": "diacylglycerol kinase epsilon",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/dgke"
      },
      {
        "slug": "dlc1",
        "symbol": "DLC1",
        "name": "DLC1 Rho GTPase activating protein",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/dlc1"
      },
      {
        "slug": "emp2",
        "symbol": "EMP2",
        "name": "epithelial membrane protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/emp2"
      },
      {
        "slug": "itsn1",
        "symbol": "ITSN1",
        "name": "intersectin 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/itsn1"
      },
      {
        "slug": "itsn2",
        "symbol": "ITSN2",
        "name": "intersectin 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/itsn2"
      },
      {
        "slug": "kank2",
        "symbol": "KANK2",
        "name": "KN motif and ankyrin repeat domains 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/kank2"
      },
      {
        "slug": "lama5",
        "symbol": "LAMA5",
        "name": "laminin subunit alpha 5",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/lama5"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}