{
  "url": "https://dantelabs.com/nl/genes/guca1a",
  "gene": {
    "slug": "guca1a",
    "symbol": "GUCA1A",
    "name": "guanylate cyclase activator 1A",
    "hgnc": "HGNC:4678",
    "summary": null,
    "location": "6p21.1",
    "locusType": "gene with protein product",
    "aliases": [
      "GCAP",
      "GCAP1",
      "COD3",
      "dJ139D8.6",
      "CORD14",
      "GCAP-I",
      "GCAP-1"
    ],
    "previousSymbols": [
      "GUCA",
      "GUCA1",
      "C6orf131"
    ],
    "ensemblId": "ENSG00000048545",
    "entrezId": 2978,
    "omim": [
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    ],
    "uniprot": [
      "P43080"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 42173364,
      "end": 42180056,
      "strand": "+",
      "ensemblTranscript": "ENST00000372958.2",
      "refseqTranscript": "NM_001384910.1",
      "ensemblProtein": "ENSP00000362049.1",
      "refseqProtein": "NP_001371839.1",
      "exons": [
        {
          "start": 42173364,
          "end": 42173814
        },
        {
          "start": 42178280,
          "end": 42178429
        },
        {
          "start": 42178802,
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        },
        {
          "start": 42179243,
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        }
      ],
      "cds": {
        "start": 42173614,
        "end": 42179403
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 42123144,
      "end": 42147794,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 41676710,
      "end": 42676709,
      "genes": [
        {
          "symbol": "TFEB",
          "ensemblId": "ENSG00000112561",
          "biotype": "protein_coding",
          "start": 41683978,
          "end": 41736259,
          "strand": "-",
          "slug": "tfeb"
        },
        {
          "symbol": "PGC",
          "ensemblId": "ENSG00000096088",
          "biotype": "protein_coding",
          "start": 41736703,
          "end": 41754109,
          "strand": "-",
          "slug": "pgc"
        },
        {
          "symbol": "FRS3",
          "ensemblId": "ENSG00000137218",
          "biotype": "protein_coding",
          "start": 41769318,
          "end": 41787570,
          "strand": "-",
          "slug": "frs3"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000124593",
          "biotype": "protein_coding",
          "start": 41780349,
          "end": 41790141,
          "strand": "+"
        },
        {
          "symbol": "PRICKLE4",
          "ensemblId": "ENSG00000278224",
          "biotype": "protein_coding",
          "start": 41780739,
          "end": 41787452,
          "strand": "+",
          "slug": "prickle4"
        },
        {
          "symbol": "TOMM6",
          "ensemblId": "ENSG00000214736",
          "biotype": "protein_coding",
          "start": 41787620,
          "end": 41872570,
          "strand": "+",
          "slug": "tomm6"
        },
        {
          "symbol": "USP49",
          "ensemblId": "ENSG00000164663",
          "biotype": "protein_coding",
          "start": 41789896,
          "end": 41895395,
          "strand": "-",
          "slug": "usp49"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000288721",
          "biotype": "protein_coding",
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          "end": 41921139,
          "strand": "-"
        },
        {
          "symbol": "MED20",
          "ensemblId": "ENSG00000124641",
          "biotype": "protein_coding",
          "start": 41905331,
          "end": 41921147,
          "strand": "-",
          "slug": "med20"
        },
        {
          "symbol": "BYSL",
          "ensemblId": "ENSG00000112578",
          "biotype": "protein_coding",
          "start": 41921229,
          "end": 41934602,
          "strand": "+",
          "slug": "bysl"
        },
        {
          "symbol": "CCND3",
          "ensemblId": "ENSG00000112576",
          "biotype": "protein_coding",
          "start": 41934577,
          "end": 42050357,
          "strand": "-",
          "slug": "ccnd3"
        },
        {
          "symbol": "TAF8",
          "ensemblId": "ENSG00000137413",
          "biotype": "protein_coding",
          "start": 42050513,
          "end": 42087461,
          "strand": "+",
          "slug": "taf8"
        },
        {
          "symbol": "C6orf132",
          "ensemblId": "ENSG00000188112",
          "biotype": "protein_coding",
          "start": 42092233,
          "end": 42142620,
          "strand": "-",
          "slug": "c6orf132"
        },
        {
          "symbol": "CIMIP3",
          "ensemblId": "ENSG00000287363",
          "biotype": "protein_coding",
          "start": 42142693,
          "end": 42163418,
          "strand": "+",
          "slug": "cimip3"
        },
        {
          "symbol": "GUCA1ANB-GUCA1A",
          "ensemblId": "ENSG00000290147",
          "biotype": "protein_coding",
          "start": 42155406,
          "end": 42180056,
          "strand": "+",
          "slug": "guca1anb-guca1a"
        },
        {
          "symbol": "GUCA1B",
          "ensemblId": "ENSG00000112599",
          "biotype": "protein_coding",
          "start": 42183284,
          "end": 42194956,
          "strand": "-",
          "slug": "guca1b"
        },
        {
          "symbol": "MRPS10",
          "ensemblId": "ENSG00000048544",
          "biotype": "protein_coding",
          "start": 42205717,
          "end": 42217881,
          "strand": "-",
          "slug": "mrps10"
        },
        {
          "symbol": "TRERF1",
          "ensemblId": "ENSG00000124496",
          "biotype": "protein_coding",
          "start": 42224931,
          "end": 42452225,
          "strand": "-",
          "slug": "trerf1"
        },
        {
          "symbol": "UBR2",
          "ensemblId": "ENSG00000024048",
          "biotype": "protein_coding",
          "start": 42563969,
          "end": 42693505,
          "strand": "+",
          "slug": "ubr2"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "color-vision-defect",
        "name": "Abnormal color vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/color-vision-defect"
      },
      {
        "slug": "abnormal-electroretinogram",
        "name": "Abnormal electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-electroretinogram"
      },
      {
        "slug": "abnormal-full-field-electroretinogram",
        "name": "Abnormal full-field electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-full-field-electroretinogram"
      },
      {
        "slug": "abnormal-retinal-pigmentation",
        "name": "Abnormal retinal pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation"
      },
      {
        "slug": "absent-retinal-pigment-epithelium",
        "name": "Absent retinal pigment epithelium",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/absent-retinal-pigment-epithelium"
      },
      {
        "slug": "central-scotoma",
        "name": "Blind spot located at fixation point",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/central-scotoma"
      },
      {
        "slug": "choriocapillaris-atrophy",
        "name": "Choriocapillaris atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/choriocapillaris-atrophy"
      },
      {
        "slug": "chorioretinal-atrophy",
        "name": "Chorioretinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chorioretinal-atrophy"
      },
      {
        "slug": "dyschromatopsia",
        "name": "Color blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dyschromatopsia"
      },
      {
        "slug": "cone-cone-rod-dystrophy",
        "name": "Cone/cone-rod dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/cone-cone-rod-dystrophy"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "slug": "drusen",
        "name": "Drusen",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/drusen"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "foveal-photoreceptor-outer-segment-loss-on-macular-oct",
        "name": "Foveal photoreceptor outer segment loss on macular OCT",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/foveal-photoreceptor-outer-segment-loss-on-macular-oct"
      },
      {
        "slug": "full-thickness-macular-hole",
        "name": "Full-thickness macular hole",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/full-thickness-macular-hole"
      },
      {
        "slug": "fundus-hypopigmentation",
        "name": "Fundus hypopigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fundus-hypopigmentation"
      },
      {
        "slug": "hyperautofluorescent-macular-lesion",
        "name": "Hyperautofluorescent macular lesion",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperautofluorescent-macular-lesion"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "macular-atrophy",
        "name": "Macular atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macular-atrophy"
      },
      {
        "slug": "metamorphopsia",
        "name": "Metamorphopsia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/metamorphopsia"
      },
      {
        "slug": "attenuation-of-retinal-blood-vessels",
        "name": "Narrowing of blood vessels in back of eye",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/attenuation-of-retinal-blood-vessels"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "slug": "perifoveal-ring-of-hyperautofluorescence",
        "name": "Perifoveal ring of hyperautofluorescence",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/perifoveal-ring-of-hyperautofluorescence"
      },
      {
        "slug": "progressive-visual-loss",
        "name": "Progressive loss of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-visual-loss"
      },
      {
        "slug": "retinal-atrophy",
        "name": "Retinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinal-atrophy"
      },
      {
        "slug": "retinal-pigment-epithelial-mottling",
        "name": "Retinal pigment epithelial mottling",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinal-pigment-epithelial-mottling"
      },
      {
        "slug": "slow-decrease-in-visual-acuity",
        "name": "Slow decrease in sharpness of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/slow-decrease-in-visual-acuity"
      },
      {
        "slug": "spicular-pigmentation-of-the-retina",
        "name": "Spicular pigmentation of the retina",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spicular-pigmentation-of-the-retina"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-loss"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}