{
  "url": "https://dantelabs.com/et/genes/mak",
  "gene": {
    "slug": "mak",
    "symbol": "MAK",
    "name": "male germ cell associated kinase",
    "hgnc": "HGNC:6816",
    "summary": null,
    "location": "6p24.2",
    "locusType": "gene with protein product",
    "aliases": [
      "dJ417M14.2",
      "RP62"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000111837",
    "entrezId": 4117,
    "omim": [
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    "uniprot": [
      "P20794"
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      "release": "v1.5",
      "chrom": "6",
      "start": 10762723,
      "end": 10838539,
      "strand": "-",
      "ensemblTranscript": "ENST00000354489.7",
      "refseqTranscript": "NM_001242957.3",
      "ensemblProtein": "ENSP00000346484.3",
      "refseqProtein": "NP_001229886.1",
      "exons": [
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      ],
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        "end": 10830648
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
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      "end": 10838764,
      "strand": "-"
    },
    "neighbourhood": {
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      "start": 10300631,
      "end": 11300630,
      "genes": [
        {
          "symbol": "TFAP2A",
          "ensemblId": "ENSG00000137203",
          "biotype": "protein_coding",
          "start": 10393186,
          "end": 10419659,
          "strand": "-",
          "slug": "tfap2a"
        },
        {
          "symbol": "GCNT2",
          "ensemblId": "ENSG00000111846",
          "biotype": "protein_coding",
          "start": 10492223,
          "end": 10629377,
          "strand": "+",
          "slug": "gcnt2"
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        {
          "symbol": "C6orf52",
          "ensemblId": "ENSG00000137434",
          "biotype": "protein_coding",
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          "end": 10694797,
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          "slug": "c6orf52"
        },
        {
          "symbol": "PAK1IP1",
          "ensemblId": "ENSG00000111845",
          "biotype": "protein_coding",
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          "end": 10711168,
          "strand": "+",
          "slug": "pak1ip1"
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        {
          "symbol": "TMEM14C",
          "ensemblId": "ENSG00000111843",
          "biotype": "protein_coding",
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          "end": 10731141,
          "strand": "+",
          "slug": "tmem14c"
        },
        {
          "symbol": "TMEM14B",
          "ensemblId": "ENSG00000137210",
          "biotype": "protein_coding",
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          "end": 10866590,
          "strand": "+",
          "slug": "tmem14b"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000272162",
          "biotype": "protein_coding",
          "start": 10747794,
          "end": 10930423,
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        },
        {
          "symbol": "GCM2",
          "ensemblId": "ENSG00000124827",
          "biotype": "protein_coding",
          "start": 10873223,
          "end": 10882041,
          "strand": "-",
          "slug": "gcm2"
        },
        {
          "symbol": "SYCP2L",
          "ensemblId": "ENSG00000153157",
          "biotype": "protein_coding",
          "start": 10886831,
          "end": 10979320,
          "strand": "+",
          "slug": "sycp2l"
        },
        {
          "symbol": "ELOVL2",
          "ensemblId": "ENSG00000197977",
          "biotype": "protein_coding",
          "start": 10980742,
          "end": 11044446,
          "strand": "-",
          "slug": "elovl2"
        },
        {
          "symbol": "SMIM13",
          "ensemblId": "ENSG00000224531",
          "biotype": "protein_coding",
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          "end": 11138733,
          "strand": "+",
          "slug": "smim13"
        },
        {
          "symbol": "KANGD1",
          "ensemblId": "ENSG00000293642",
          "biotype": "protein_coding",
          "start": 11093834,
          "end": 11138733,
          "strand": "+",
          "slug": "kangd1"
        },
        {
          "symbol": "ERVFRD-1",
          "ensemblId": "ENSG00000244476",
          "biotype": "protein_coding",
          "start": 11102324,
          "end": 11111845,
          "strand": "-",
          "slug": "ervfrd-1"
        },
        {
          "symbol": "NEDD9",
          "ensemblId": "ENSG00000111859",
          "biotype": "protein_coding",
          "start": 11181524,
          "end": 11382348,
          "strand": "-",
          "slug": "nedd9"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "retinitis-pigmentosa",
        "name": "Retinitis pigmentosa",
        "diseases": [
          {
            "mondoId": "MONDO:0700229",
            "name": "MAK-seotud retinopaatia",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Võrkkesta düstroofia, mis on põhjustatud MAK geeni muutustest, sealhulgas asutajavariant, mis on levinud aškenaazi juudi päritolu inimestel.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019200",
            "name": "Retinitis pigmentosa",
            "genes": 77,
            "inheritance": null,
            "description": "Pärilike võrkkesta düstroofiate rühm, mille puhul toimub varraste ja seejärel kolbide fotoretseptorite progresseeruv kadu, põhjustades öise pimeduse ja järkjärgulise perifeerse nägemise kaotuse.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/et/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": "bull-s-eye-maculopathy",
        "name": "Bull's eye maculopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bull-s-eye-maculopathy"
      },
      {
        "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": "very-frequent",
        "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": "occasional",
        "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": "rod-cone-dystrophy",
        "name": "Rod-cone dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/rod-cone-dystrophy"
      },
      {
        "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/et/genes/abca4"
      },
      {
        "slug": "agbl5",
        "symbol": "AGBL5",
        "name": "AGBL carboxypeptidase 5",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/agbl5"
      },
      {
        "slug": "ahr",
        "symbol": "AHR",
        "name": "aryl hydrocarbon receptor",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/ahr"
      },
      {
        "slug": "arhgef18",
        "symbol": "ARHGEF18",
        "name": "Rho/Rac guanine nucleotide exchange factor 18",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/arhgef18"
      },
      {
        "slug": "arl2bp",
        "symbol": "ARL2BP",
        "name": "ARF like GTPase 2 binding protein",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/arl2bp"
      },
      {
        "slug": "arl3",
        "symbol": "ARL3",
        "name": "ARF like GTPase 3",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/arl3"
      },
      {
        "slug": "arl6",
        "symbol": "ARL6",
        "name": "ARF like GTPase 6",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/arl6"
      },
      {
        "slug": "bbs2",
        "symbol": "BBS2",
        "name": "Bardet-Biedl syndrome 2",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/bbs2"
      },
      {
        "slug": "best1",
        "symbol": "BEST1",
        "name": "bestrophin 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/best1"
      },
      {
        "slug": "ca4",
        "symbol": "CA4",
        "name": "carbonic anhydrase 4",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/ca4"
      },
      {
        "slug": "cc2d2a",
        "symbol": "CC2D2A",
        "name": "coiled-coil and C2 domain containing 2A",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/cc2d2a"
      },
      {
        "slug": "cdhr1",
        "symbol": "CDHR1",
        "name": "cadherin related family member 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/cdhr1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}