{
  "url": "https://dantelabs.com/ro/genes/gucy1a1",
  "gene": {
    "slug": "gucy1a1",
    "symbol": "GUCY1A1",
    "name": "guanylate cyclase 1 soluble subunit alpha 1",
    "hgnc": "HGNC:4685",
    "summary": null,
    "location": "4q32.1",
    "locusType": "gene with protein product",
    "aliases": [
      "GC-SA3"
    ],
    "previousSymbols": [
      "GUC1A3",
      "GUCY1A3"
    ],
    "ensemblId": "ENSG00000164116",
    "entrezId": 2982,
    "omim": [
      "139396"
    ],
    "uniprot": [
      "Q02108"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 155666848,
      "end": 155737059,
      "strand": "+",
      "ensemblTranscript": "ENST00000506455.6",
      "refseqTranscript": "NM_001130682.3",
      "ensemblProtein": "ENSP00000424361.1",
      "refseqProtein": "NP_001124154.1",
      "exons": [
        {
          "start": 155666848,
          "end": 155666965
        },
        {
          "start": 155667346,
          "end": 155667419
        },
        {
          "start": 155696756,
          "end": 155697122
        },
        {
          "start": 155703932,
          "end": 155703993
        },
        {
          "start": 155708236,
          "end": 155708294
        },
        {
          "start": 155710542,
          "end": 155711251
        },
        {
          "start": 155713098,
          "end": 155713583
        },
        {
          "start": 155717159,
          "end": 155717302
        },
        {
          "start": 155722038,
          "end": 155722192
        },
        {
          "start": 155730030,
          "end": 155737059
        }
      ],
      "cds": {
        "start": 155696868,
        "end": 155730231
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 156587863,
      "end": 156653501,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 155201954,
      "end": 156201953,
      "genes": [
        {
          "symbol": "NPY2R",
          "ensemblId": "ENSG00000185149",
          "biotype": "protein_coding",
          "start": 155208627,
          "end": 155217078,
          "strand": "+",
          "slug": "npy2r"
        },
        {
          "symbol": "MAP9",
          "ensemblId": "ENSG00000164114",
          "biotype": "protein_coding",
          "start": 155342658,
          "end": 155376970,
          "strand": "-",
          "slug": "map9"
        },
        {
          "symbol": "GUCY1B1",
          "ensemblId": "ENSG00000061918",
          "biotype": "protein_coding",
          "start": 155758988,
          "end": 155807811,
          "strand": "+",
          "slug": "gucy1b1"
        },
        {
          "symbol": "ASIC5",
          "ensemblId": "ENSG00000256394",
          "biotype": "protein_coding",
          "start": 155829729,
          "end": 155866277,
          "strand": "-",
          "slug": "asic5"
        },
        {
          "symbol": "TDO2",
          "ensemblId": "ENSG00000151790",
          "biotype": "protein_coding",
          "start": 155854738,
          "end": 155921470,
          "strand": "+",
          "slug": "tdo2"
        },
        {
          "symbol": "CTSO",
          "ensemblId": "ENSG00000256043",
          "biotype": "protein_coding",
          "start": 155921580,
          "end": 155953912,
          "strand": "-",
          "slug": "ctso"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "moyamoya-disease",
        "name": "Boala Moyamoya",
        "diseases": [
          {
            "mondoId": "MONDO:0016820",
            "name": "Boala Moyamoya",
            "genes": 4,
            "inheritance": null,
            "description": "Îngustarea progresivă a arterelor de la baza creierului, legată de modificări ale genei RNF213 (o genă de predispoziție cu penetranță redusă, deosebit de frecventă în populațiile din Asia de Est), ACTA2 sau GUCY1A1, care pot provoca accidente vasculare cerebrale sau accidente ischemice tranzitorii.",
            "management": "Cunoașterea acestei afecțiuni sprijină evaluarea timpurie a simptomelor, cum ar fi slăbiciunea tranzitorie, și accesul la prevenirea accidentului vascular cerebral de specialitate și la tratamentul chirurgical.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/moyamoya-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-platelet-aggregation",
        "name": "Abnormal platelet aggregation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-platelet-aggregation"
      },
      {
        "slug": "abnormal-cerebral-vascular-morphology",
        "name": "Abnormality of the cerebral blood vessels",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-vascular-morphology"
      },
      {
        "slug": "achalasia",
        "name": "Achalasia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/achalasia"
      },
      {
        "slug": "cutis-marmorata",
        "name": "Cutis marmorata",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cutis-marmorata"
      },
      {
        "slug": "impotence",
        "name": "Difficulty getting a full erection",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/impotence"
      },
      {
        "slug": "generalized-onset-seizure",
        "name": "Generalized-onset seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-onset-seizure"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "ischemic-stroke",
        "name": "Ischemic stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ischemic-stroke"
      },
      {
        "slug": "livedo-reticularis",
        "name": "Livedo reticularis",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/livedo-reticularis"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "moyamoya-phenomenon",
        "name": "Moyamoya phenomenon",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/moyamoya-phenomenon"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "raynaud-phenomenon",
        "name": "Raynaud phenomenon",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/raynaud-phenomenon"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/stroke"
      },
      {
        "slug": "hemiparesis",
        "name": "Weakness of one side of body",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hemiparesis"
      }
    ],
    "related": [
      {
        "slug": "acta2",
        "symbol": "ACTA2",
        "name": "actin alpha 2, smooth muscle",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/acta2"
      },
      {
        "slug": "rnf213",
        "symbol": "RNF213",
        "name": "ring finger protein 213",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/rnf213"
      },
      {
        "slug": "samhd1",
        "symbol": "SAMHD1",
        "name": "SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/samhd1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}