{
  "url": "https://dantelabs.com/pl/genes/arhgef18",
  "gene": {
    "slug": "arhgef18",
    "symbol": "ARHGEF18",
    "name": "Rho/Rac guanine nucleotide exchange factor 18",
    "hgnc": "HGNC:17090",
    "summary": null,
    "location": "19p13.2",
    "locusType": "gene with protein product",
    "aliases": [
      "P114-RhoGEF",
      "KIAA0521",
      "MGC15913",
      "p114RhoGEF"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000104880",
    "entrezId": 23370,
    "omim": [
      "616432"
    ],
    "uniprot": [
      "Q6ZSZ5"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "19",
      "start": 7348937,
      "end": 7472478,
      "strand": "+",
      "ensemblTranscript": "ENST00000668164.2",
      "refseqTranscript": "NM_001367823.1",
      "ensemblProtein": "ENSP00000499655.2",
      "refseqProtein": "NP_001354752.1",
      "exons": [
        {
          "start": 7348937,
          "end": 7349241
        },
        {
          "start": 7362781,
          "end": 7362905
        },
        {
          "start": 7372812,
          "end": 7373071
        },
        {
          "start": 7375720,
          "end": 7375870
        },
        {
          "start": 7376643,
          "end": 7376757
        },
        {
          "start": 7378394,
          "end": 7378451
        },
        {
          "start": 7379122,
          "end": 7379166
        },
        {
          "start": 7380917,
          "end": 7380994
        },
        {
          "start": 7382792,
          "end": 7382894
        },
        {
          "start": 7383062,
          "end": 7383203
        },
        {
          "start": 7440344,
          "end": 7440482
        },
        {
          "start": 7441653,
          "end": 7441765
        },
        {
          "start": 7441912,
          "end": 7442052
        },
        {
          "start": 7444204,
          "end": 7444454
        },
        {
          "start": 7447043,
          "end": 7447168
        },
        {
          "start": 7451149,
          "end": 7451266
        },
        {
          "start": 7453467,
          "end": 7453715
        },
        {
          "start": 7456327,
          "end": 7456403
        },
        {
          "start": 7458512,
          "end": 7458690
        },
        {
          "start": 7459903,
          "end": 7459994
        },
        {
          "start": 7462152,
          "end": 7462334
        },
        {
          "start": 7463818,
          "end": 7463955
        },
        {
          "start": 7464560,
          "end": 7464690
        },
        {
          "start": 7466918,
          "end": 7466974
        },
        {
          "start": 7467071,
          "end": 7467118
        },
        {
          "start": 7467214,
          "end": 7467684
        },
        {
          "start": 7468825,
          "end": 7469131
        },
        {
          "start": 7469904,
          "end": 7470029
        },
        {
          "start": 7470126,
          "end": 7472478
        }
      ],
      "cds": {
        "start": 7362891,
        "end": 7470298
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "19",
      "start": 7459999,
      "end": 7537363,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 6910708,
      "end": 7910707,
      "genes": [
        {
          "symbol": "ADGRE1",
          "ensemblId": "ENSG00000174837",
          "biotype": "protein_coding",
          "start": 6887530,
          "end": 6940459,
          "strand": "+",
          "slug": "adgre1"
        },
        {
          "symbol": "MBD3L2B",
          "ensemblId": "ENSG00000196589",
          "biotype": "protein_coding",
          "start": 7018969,
          "end": 7021431,
          "strand": "-",
          "slug": "mbd3l2b"
        },
        {
          "symbol": "MBD3L5",
          "ensemblId": "ENSG00000237247",
          "biotype": "protein_coding",
          "start": 7030578,
          "end": 7033011,
          "strand": "+",
          "slug": "mbd3l5"
        },
        {
          "symbol": "MBD3L4",
          "ensemblId": "ENSG00000205718",
          "biotype": "protein_coding",
          "start": 7037749,
          "end": 7040179,
          "strand": "-",
          "slug": "mbd3l4"
        },
        {
          "symbol": "MBD3L2",
          "ensemblId": "ENSG00000230522",
          "biotype": "protein_coding",
          "start": 7049321,
          "end": 7051735,
          "strand": "+",
          "slug": "mbd3l2"
        },
        {
          "symbol": "MBD3L3",
          "ensemblId": "ENSG00000182315",
          "biotype": "protein_coding",
          "start": 7056207,
          "end": 7069665,
          "strand": "-",
          "slug": "mbd3l3"
        },
        {
          "symbol": "ZNF557",
          "ensemblId": "ENSG00000130544",
          "biotype": "protein_coding",
          "start": 7069416,
          "end": 7096206,
          "strand": "+",
          "slug": "znf557"
        },
        {
          "symbol": "INSR",
          "ensemblId": "ENSG00000171105",
          "biotype": "protein_coding",
          "start": 7112255,
          "end": 7294443,
          "strand": "-",
          "slug": "insr"
        },
        {
          "symbol": "PEX11G",
          "ensemblId": "ENSG00000104883",
          "biotype": "protein_coding",
          "start": 7476869,
          "end": 7497449,
          "strand": "-",
          "slug": "pex11g"
        },
        {
          "symbol": "SAXO5",
          "ensemblId": "ENSG00000198723",
          "biotype": "protein_coding",
          "start": 7492976,
          "end": 7509030,
          "strand": "+",
          "slug": "saxo5"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000267952",
          "biotype": "protein_coding",
          "start": 7507052,
          "end": 7519622,
          "strand": "+"
        },
        {
          "symbol": "ZNF358",
          "ensemblId": "ENSG00000198816",
          "biotype": "protein_coding",
          "start": 7515292,
          "end": 7521027,
          "strand": "+",
          "slug": "znf358"
        },
        {
          "symbol": "MCOLN1",
          "ensemblId": "ENSG00000090674",
          "biotype": "protein_coding",
          "start": 7522611,
          "end": 7534009,
          "strand": "+",
          "slug": "mcoln1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000268614",
          "biotype": "protein_coding",
          "start": 7533595,
          "end": 7540059,
          "strand": "+"
        },
        {
          "symbol": "PNPLA6",
          "ensemblId": "ENSG00000032444",
          "biotype": "protein_coding",
          "start": 7534004,
          "end": 7561764,
          "strand": "+",
          "slug": "pnpla6"
        },
        {
          "symbol": "CAMSAP3",
          "ensemblId": "ENSG00000076826",
          "biotype": "protein_coding",
          "start": 7595826,
          "end": 7618352,
          "strand": "+",
          "slug": "camsap3"
        },
        {
          "symbol": "XAB2",
          "ensemblId": "ENSG00000076924",
          "biotype": "protein_coding",
          "start": 7619523,
          "end": 7629573,
          "strand": "-",
          "slug": "xab2"
        },
        {
          "symbol": "PET100",
          "ensemblId": "ENSG00000229833",
          "biotype": "protein_coding",
          "start": 7629711,
          "end": 7631956,
          "strand": "+",
          "slug": "pet100"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000268400",
          "biotype": "protein_coding",
          "start": 7629796,
          "end": 7647477,
          "strand": "+"
        },
        {
          "symbol": "PCP2",
          "ensemblId": "ENSG00000174788",
          "biotype": "protein_coding",
          "start": 7631611,
          "end": 7635831,
          "strand": "-",
          "slug": "pcp2"
        },
        {
          "symbol": "STXBP2",
          "ensemblId": "ENSG00000076944",
          "biotype": "protein_coding",
          "start": 7636772,
          "end": 7647875,
          "strand": "+",
          "slug": "stxbp2"
        },
        {
          "symbol": "RETN",
          "ensemblId": "ENSG00000104918",
          "biotype": "protein_coding",
          "start": 7669044,
          "end": 7670456,
          "strand": "+",
          "slug": "retn"
        },
        {
          "symbol": "MCEMP1",
          "ensemblId": "ENSG00000183019",
          "biotype": "protein_coding",
          "start": 7677056,
          "end": 7679834,
          "strand": "+",
          "slug": "mcemp1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000269711",
          "biotype": "protein_coding",
          "start": 7678501,
          "end": 7682854,
          "strand": "+"
        },
        {
          "symbol": "TRAPPC5",
          "ensemblId": "ENSG00000181029",
          "biotype": "protein_coding",
          "start": 7680823,
          "end": 7687703,
          "strand": "+",
          "slug": "trappc5"
        },
        {
          "symbol": "FCER2",
          "ensemblId": "ENSG00000104921",
          "biotype": "protein_coding",
          "start": 7688758,
          "end": 7702146,
          "strand": "-",
          "slug": "fcer2"
        },
        {
          "symbol": "CLEC4G",
          "ensemblId": "ENSG00000182566",
          "biotype": "protein_coding",
          "start": 7728943,
          "end": 7733906,
          "strand": "-",
          "slug": "clec4g"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000288669",
          "biotype": "protein_coding",
          "start": 7728958,
          "end": 7745662,
          "strand": "-"
        },
        {
          "symbol": "CD209",
          "ensemblId": "ENSG00000090659",
          "biotype": "protein_coding",
          "start": 7739993,
          "end": 7747623,
          "strand": "-",
          "slug": "cd209"
        },
        {
          "symbol": "CLEC4M",
          "ensemblId": "ENSG00000104938",
          "biotype": "protein_coding",
          "start": 7763031,
          "end": 7769606,
          "strand": "+",
          "slug": "clec4m"
        },
        {
          "symbol": "EVI5L",
          "ensemblId": "ENSG00000142459",
          "biotype": "protein_coding",
          "start": 7830182,
          "end": 7864980,
          "strand": "+",
          "slug": "evi5l"
        },
        {
          "symbol": "PRR36",
          "ensemblId": "ENSG00000183248",
          "biotype": "protein_coding",
          "start": 7868719,
          "end": 7874674,
          "strand": "-",
          "slug": "prr36"
        },
        {
          "symbol": "LRRC8E",
          "ensemblId": "ENSG00000171017",
          "biotype": "protein_coding",
          "start": 7888500,
          "end": 7902021,
          "strand": "+",
          "slug": "lrrc8e"
        },
        {
          "symbol": "MAP2K7",
          "ensemblId": "ENSG00000076984",
          "biotype": "protein_coding",
          "start": 7903823,
          "end": 7914480,
          "strand": "+",
          "slug": "map2k7"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "retinitis-pigmentosa",
        "name": "Retinitis pigmentosa",
        "diseases": [
          {
            "mondoId": "MONDO:0019200",
            "name": "Retinitis pigmentosa",
            "genes": 77,
            "inheritance": null,
            "description": "Grupa dziedzicznych dystrofii siatkówki z postępującą utratą najpierw fotoreceptorów pręcikowych, a następnie czopkowych, powodująca ślepotę zmierzchową i stopniową utratę widzenia obwodowego.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/retinitis-pigmentosa"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-central-response-of-multifocal-electroretinogram",
        "name": "Abnormal central response of multifocal electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-central-response-of-multifocal-electroretinogram"
      },
      {
        "slug": "color-vision-defect",
        "name": "Abnormal color vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "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": "abnormal-retinal-vascular-morphology",
        "name": "Abnormality of retina blood vessels",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-retinal-vascular-morphology"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "keratoconus",
        "name": "Bulging cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/keratoconus"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "slug": "cystoid-macular-edema",
        "name": "Cystoid macular edema",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cystoid-macular-edema"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "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": "ophthalmoplegia",
        "name": "Eye muscle paralysis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ophthalmoplegia"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "hyperinsulinemia",
        "name": "Hyperinsulinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperinsulinemia"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "peripheral-visual-field-loss",
        "name": "Loss of peripheral vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peripheral-visual-field-loss"
      },
      {
        "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-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "optic-disc-drusen",
        "name": "Optic disc drusen",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-disc-drusen"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "slug": "visual-field-defect",
        "name": "Partial loss of field of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/visual-field-defect"
      },
      {
        "slug": "photopsia",
        "name": "Photopsia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/photopsia"
      },
      {
        "slug": "photoreceptor-outer-segment-loss-on-macular-oct",
        "name": "Photoreceptor outer segment loss on macular OCT",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/photoreceptor-outer-segment-loss-on-macular-oct"
      },
      {
        "slug": "posterior-subcapsular-cataract",
        "name": "Posterior subcapsular cataract",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/posterior-subcapsular-cataract"
      },
      {
        "slug": "progressive-night-blindness",
        "name": "Progressive night blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-night-blindness"
      },
      {
        "slug": "retinal-degeneration",
        "name": "Retina degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/retinal-degeneration"
      },
      {
        "slug": "retinal-atrophy",
        "name": "Retinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinal-atrophy"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "spicular-pigmentation-of-the-retina",
        "name": "Spicular pigmentation of the retina",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-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"
      }
    ],
    "related": [
      {
        "slug": "abca4",
        "symbol": "ABCA4",
        "name": "ATP binding cassette subfamily A member 4",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/abca4"
      },
      {
        "slug": "agbl5",
        "symbol": "AGBL5",
        "name": "AGBL carboxypeptidase 5",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/agbl5"
      },
      {
        "slug": "ahr",
        "symbol": "AHR",
        "name": "aryl hydrocarbon receptor",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/ahr"
      },
      {
        "slug": "arl2bp",
        "symbol": "ARL2BP",
        "name": "ARF like GTPase 2 binding protein",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/arl2bp"
      },
      {
        "slug": "arl3",
        "symbol": "ARL3",
        "name": "ARF like GTPase 3",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/arl3"
      },
      {
        "slug": "arl6",
        "symbol": "ARL6",
        "name": "ARF like GTPase 6",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/arl6"
      },
      {
        "slug": "bbs2",
        "symbol": "BBS2",
        "name": "Bardet-Biedl syndrome 2",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/bbs2"
      },
      {
        "slug": "best1",
        "symbol": "BEST1",
        "name": "bestrophin 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/best1"
      },
      {
        "slug": "ca4",
        "symbol": "CA4",
        "name": "carbonic anhydrase 4",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/ca4"
      },
      {
        "slug": "cc2d2a",
        "symbol": "CC2D2A",
        "name": "coiled-coil and C2 domain containing 2A",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cc2d2a"
      },
      {
        "slug": "cdhr1",
        "symbol": "CDHR1",
        "name": "cadherin related family member 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cdhr1"
      },
      {
        "slug": "cerkl",
        "symbol": "CERKL",
        "name": "CERK like autophagy regulator",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cerkl"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}