{
  "url": "https://dantelabs.com/traits/optic-disc-drusen",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "optic-disc-drusen",
    "id": "HP:0012426",
    "name": "Optic disc drusen",
    "definition": "Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.",
    "synonyms": [
      "Optic nerve head drusen"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-optic-disc-morphology",
        "name": "Abnormal optic disc morphology",
        "url": "https://dantelabs.com/traits/abnormal-optic-disc-morphology"
      },
      {
        "slug": "drusen",
        "name": "Drusen",
        "url": "https://dantelabs.com/traits/drusen"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "ift172",
        "symbol": "IFT172",
        "hgnc": "HGNC:30391",
        "name": "intraflagellar transport 172",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ift172"
      },
      {
        "slug": "mfrp",
        "symbol": "MFRP",
        "hgnc": "HGNC:18121",
        "name": "membrane frizzled-related protein",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mfrp"
      },
      {
        "slug": "tm2d3",
        "symbol": "TM2D3",
        "hgnc": "HGNC:24128",
        "name": "TM2 domain containing 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tm2d3"
      },
      {
        "slug": "abca4",
        "symbol": "ABCA4",
        "hgnc": "HGNC:34",
        "name": "ATP binding cassette subfamily A member 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abca4"
      },
      {
        "slug": "agbl5",
        "symbol": "AGBL5",
        "hgnc": "HGNC:26147",
        "name": "AGBL carboxypeptidase 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/agbl5"
      },
      {
        "slug": "ahi1",
        "symbol": "AHI1",
        "hgnc": "HGNC:21575",
        "name": "Abelson helper integration site 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ahi1"
      },
      {
        "slug": "ahr",
        "symbol": "AHR",
        "hgnc": "HGNC:348",
        "name": "aryl hydrocarbon receptor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ahr"
      },
      {
        "slug": "alms1",
        "symbol": "ALMS1",
        "hgnc": "HGNC:428",
        "name": "ALMS1 centrosome and basal body associated protein",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/alms1"
      },
      {
        "slug": "arhgef18",
        "symbol": "ARHGEF18",
        "hgnc": "HGNC:17090",
        "name": "Rho/Rac guanine nucleotide exchange factor 18",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arhgef18"
      },
      {
        "slug": "arl2bp",
        "symbol": "ARL2BP",
        "hgnc": "HGNC:17146",
        "name": "ARF like GTPase 2 binding protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arl2bp"
      },
      {
        "slug": "arl3",
        "symbol": "ARL3",
        "hgnc": "HGNC:694",
        "name": "ARF like GTPase 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arl3"
      },
      {
        "slug": "arl6",
        "symbol": "ARL6",
        "hgnc": "HGNC:13210",
        "name": "ARF like GTPase 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arl6"
      },
      {
        "slug": "bbs1",
        "symbol": "BBS1",
        "hgnc": "HGNC:966",
        "name": "Bardet-Biedl syndrome 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bbs1"
      },
      {
        "slug": "bbs2",
        "symbol": "BBS2",
        "hgnc": "HGNC:967",
        "name": "Bardet-Biedl syndrome 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bbs2"
      },
      {
        "slug": "best1",
        "symbol": "BEST1",
        "hgnc": "HGNC:12703",
        "name": "bestrophin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/best1"
      },
      {
        "slug": "ca4",
        "symbol": "CA4",
        "hgnc": "HGNC:1375",
        "name": "carbonic anhydrase 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ca4"
      },
      {
        "slug": "cabp4",
        "symbol": "CABP4",
        "hgnc": "HGNC:1386",
        "name": "calcium binding protein 4",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cabp4"
      },
      {
        "slug": "cc2d2a",
        "symbol": "CC2D2A",
        "hgnc": "HGNC:29253",
        "name": "coiled-coil and C2 domain containing 2A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cc2d2a"
      },
      {
        "slug": "cdhr1",
        "symbol": "CDHR1",
        "hgnc": "HGNC:14550",
        "name": "cadherin related family member 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdhr1"
      },
      {
        "slug": "cerkl",
        "symbol": "CERKL",
        "hgnc": "HGNC:21699",
        "name": "CERK like autophagy regulator",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cerkl"
      },
      {
        "slug": "cfap20",
        "symbol": "CFAP20",
        "hgnc": "HGNC:29523",
        "name": "cilia and flagella associated protein 20",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cfap20"
      },
      {
        "slug": "cfap418",
        "symbol": "CFAP418",
        "hgnc": "HGNC:27232",
        "name": "cilia and flagella associated protein 418",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cfap418"
      },
      {
        "slug": "clrn1",
        "symbol": "CLRN1",
        "hgnc": "HGNC:12605",
        "name": "clarin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/clrn1"
      },
      {
        "slug": "cnga1",
        "symbol": "CNGA1",
        "hgnc": "HGNC:2148",
        "name": "cyclic nucleotide gated channel subunit alpha 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cnga1"
      },
      {
        "slug": "cngb1",
        "symbol": "CNGB1",
        "hgnc": "HGNC:2151",
        "name": "cyclic nucleotide gated channel subunit beta 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cngb1"
      },
      {
        "slug": "coq8b",
        "symbol": "COQ8B",
        "hgnc": "HGNC:19041",
        "name": "coenzyme Q8B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/coq8b"
      },
      {
        "slug": "crb1",
        "symbol": "CRB1",
        "hgnc": "HGNC:2343",
        "name": "crumbs cell polarity complex component 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/crb1"
      },
      {
        "slug": "crx",
        "symbol": "CRX",
        "hgnc": "HGNC:2383",
        "name": "cone-rod homeobox",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/crx"
      },
      {
        "slug": "dhdds",
        "symbol": "DHDDS",
        "hgnc": "HGNC:20603",
        "name": "dehydrodolichyl diphosphate synthase subunit",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dhdds"
      },
      {
        "slug": "dhx38",
        "symbol": "DHX38",
        "hgnc": "HGNC:17211",
        "name": "DEAH-box helicase 38",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dhx38"
      },
      {
        "slug": "eys",
        "symbol": "EYS",
        "hgnc": "HGNC:21555",
        "name": "EGF-like photoreceptor maintenance factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eys"
      },
      {
        "slug": "fam161a",
        "symbol": "FAM161A",
        "hgnc": "HGNC:25808",
        "name": "FAM161 centrosomal protein A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fam161a"
      },
      {
        "slug": "fscn2",
        "symbol": "FSCN2",
        "hgnc": "HGNC:3960",
        "name": "fascin actin-bundling protein 2, retinal",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fscn2"
      },
      {
        "slug": "fsd1l",
        "symbol": "FSD1L",
        "hgnc": "HGNC:13753",
        "name": "fibronectin type III and SPRY domain containing 1 like",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fsd1l"
      },
      {
        "slug": "guca1b",
        "symbol": "GUCA1B",
        "hgnc": "HGNC:4679",
        "name": "guanylate cyclase activator 1B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/guca1b"
      },
      {
        "slug": "hgsnat",
        "symbol": "HGSNAT",
        "hgnc": "HGNC:26527",
        "name": "heparan-alpha-glucosaminide N-acetyltransferase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hgsnat"
      },
      {
        "slug": "hkdc1",
        "symbol": "HKDC1",
        "hgnc": "HGNC:23302",
        "name": "hexokinase domain containing 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hkdc1"
      },
      {
        "slug": "idh3a",
        "symbol": "IDH3A",
        "hgnc": "HGNC:5384",
        "name": "isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/idh3a"
      },
      {
        "slug": "idh3b",
        "symbol": "IDH3B",
        "hgnc": "HGNC:5385",
        "name": "isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/idh3b"
      },
      {
        "slug": "ift140",
        "symbol": "IFT140",
        "hgnc": "HGNC:29077",
        "name": "intraflagellar transport 140",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ift140"
      },
      {
        "slug": "ift43",
        "symbol": "IFT43",
        "hgnc": "HGNC:29669",
        "name": "intraflagellar transport 43",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift43"
      },
      {
        "slug": "ift88",
        "symbol": "IFT88",
        "hgnc": "HGNC:20606",
        "name": "intraflagellar transport 88",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift88"
      },
      {
        "slug": "impdh1",
        "symbol": "IMPDH1",
        "hgnc": "HGNC:6052",
        "name": "inosine monophosphate dehydrogenase 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/impdh1"
      },
      {
        "slug": "impg1",
        "symbol": "IMPG1",
        "hgnc": "HGNC:6055",
        "name": "interphotoreceptor matrix proteoglycan 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/impg1"
      },
      {
        "slug": "impg2",
        "symbol": "IMPG2",
        "hgnc": "HGNC:18362",
        "name": "interphotoreceptor matrix proteoglycan 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/impg2"
      },
      {
        "slug": "kcnj13",
        "symbol": "KCNJ13",
        "hgnc": "HGNC:6259",
        "name": "potassium inwardly rectifying channel subfamily J member 13",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/kcnj13"
      },
      {
        "slug": "kiaa1549",
        "symbol": "KIAA1549",
        "hgnc": "HGNC:22219",
        "name": "KIAA1549",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kiaa1549"
      },
      {
        "slug": "kiz",
        "symbol": "KIZ",
        "hgnc": "HGNC:15865",
        "name": "kizuna centrosomal protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kiz"
      },
      {
        "slug": "klhl7",
        "symbol": "KLHL7",
        "hgnc": "HGNC:15646",
        "name": "kelch like family member 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/klhl7"
      },
      {
        "slug": "lca5",
        "symbol": "LCA5",
        "hgnc": "HGNC:31923",
        "name": "lebercilin LCA5",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/lca5"
      },
      {
        "slug": "lrat",
        "symbol": "LRAT",
        "hgnc": "HGNC:6685",
        "name": "lecithin retinol acyltransferase",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/lrat"
      },
      {
        "slug": "mak",
        "symbol": "MAK",
        "hgnc": "HGNC:6816",
        "name": "male germ cell associated kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mak"
      },
      {
        "slug": "mertk",
        "symbol": "MERTK",
        "hgnc": "HGNC:7027",
        "name": "MER proto-oncogene, tyrosine kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mertk"
      },
      {
        "slug": "nek2",
        "symbol": "NEK2",
        "hgnc": "HGNC:7745",
        "name": "NIMA related kinase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nek2"
      },
      {
        "slug": "nr2e3",
        "symbol": "NR2E3",
        "hgnc": "HGNC:7974",
        "name": "nuclear receptor subfamily 2 group E member 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nr2e3"
      },
      {
        "slug": "nrl",
        "symbol": "NRL",
        "hgnc": "HGNC:8002",
        "name": "neural retina leucine zipper",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nrl"
      },
      {
        "slug": "ofd1",
        "symbol": "OFD1",
        "hgnc": "HGNC:2567",
        "name": "OFD1 centriole and centriolar satellite protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ofd1"
      },
      {
        "slug": "otx2",
        "symbol": "OTX2",
        "hgnc": "HGNC:8522",
        "name": "orthodenticle homeobox 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/otx2"
      },
      {
        "slug": "pcare",
        "symbol": "PCARE",
        "hgnc": "HGNC:34383",
        "name": "photoreceptor cilium actin regulator",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pcare"
      },
      {
        "slug": "pde6a",
        "symbol": "PDE6A",
        "hgnc": "HGNC:8785",
        "name": "phosphodiesterase 6A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pde6a"
      },
      {
        "slug": "pde6b",
        "symbol": "PDE6B",
        "hgnc": "HGNC:8786",
        "name": "phosphodiesterase 6B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pde6b"
      },
      {
        "slug": "pde6g",
        "symbol": "PDE6G",
        "hgnc": "HGNC:8789",
        "name": "phosphodiesterase 6G",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pde6g"
      },
      {
        "slug": "pomgnt1",
        "symbol": "POMGNT1",
        "hgnc": "HGNC:19139",
        "name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomgnt1"
      },
      {
        "slug": "prcd",
        "symbol": "PRCD",
        "hgnc": "HGNC:32528",
        "name": "photoreceptor disc component",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prcd"
      },
      {
        "slug": "prom1",
        "symbol": "PROM1",
        "hgnc": "HGNC:9454",
        "name": "prominin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prom1"
      },
      {
        "slug": "prpf3",
        "symbol": "PRPF3",
        "hgnc": "HGNC:17348",
        "name": "pre-mRNA processing factor 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prpf3"
      },
      {
        "slug": "prpf31",
        "symbol": "PRPF31",
        "hgnc": "HGNC:15446",
        "name": "pre-mRNA processing factor 31",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prpf31"
      },
      {
        "slug": "prpf4",
        "symbol": "PRPF4",
        "hgnc": "HGNC:17349",
        "name": "pre-mRNA splicing tri-snRNP complex factor PRPF4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prpf4"
      },
      {
        "slug": "prpf6",
        "symbol": "PRPF6",
        "hgnc": "HGNC:15860",
        "name": "pre-mRNA processing factor 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prpf6"
      },
      {
        "slug": "prpf8",
        "symbol": "PRPF8",
        "hgnc": "HGNC:17340",
        "name": "pre-mRNA processing factor 8",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/prpf8"
      },
      {
        "slug": "prph2",
        "symbol": "PRPH2",
        "hgnc": "HGNC:9942",
        "name": "peripherin 2",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/prph2"
      },
      {
        "slug": "rbp3",
        "symbol": "RBP3",
        "hgnc": "HGNC:9921",
        "name": "retinol binding protein 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rbp3"
      },
      {
        "slug": "rdh12",
        "symbol": "RDH12",
        "hgnc": "HGNC:19977",
        "name": "retinol dehydrogenase 12",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rdh12"
      },
      {
        "slug": "reep6",
        "symbol": "REEP6",
        "hgnc": "HGNC:30078",
        "name": "receptor accessory protein 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/reep6"
      },
      {
        "slug": "rgr",
        "symbol": "RGR",
        "hgnc": "HGNC:9990",
        "name": "retinal G protein coupled receptor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rgr"
      },
      {
        "slug": "rho",
        "symbol": "RHO",
        "hgnc": "HGNC:10012",
        "name": "rhodopsin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rho"
      },
      {
        "slug": "rlbp1",
        "symbol": "RLBP1",
        "hgnc": "HGNC:10024",
        "name": "retinaldehyde binding protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rlbp1"
      },
      {
        "slug": "rnu4-2",
        "symbol": "RNU4-2",
        "hgnc": "HGNC:10193",
        "name": "RNA, U4 small nuclear 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu4-2"
      },
      {
        "slug": "rnu6-1",
        "symbol": "RNU6-1",
        "hgnc": "HGNC:10227",
        "name": "RNA, U6 small nuclear 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu6-1"
      },
      {
        "slug": "rnu6-2",
        "symbol": "RNU6-2",
        "hgnc": "HGNC:34270",
        "name": "RNA, U6 small nuclear 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu6-2"
      },
      {
        "slug": "rnu6-8",
        "symbol": "RNU6-8",
        "hgnc": "HGNC:34285",
        "name": "RNA, U6 small nuclear 8",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu6-8"
      },
      {
        "slug": "rnu6-9",
        "symbol": "RNU6-9",
        "hgnc": "HGNC:34269",
        "name": "RNA, U6 small nuclear 9",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu6-9"
      },
      {
        "slug": "rom1",
        "symbol": "ROM1",
        "hgnc": "HGNC:10254",
        "name": "retinal outer segment membrane protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rom1"
      },
      {
        "slug": "rp1",
        "symbol": "RP1",
        "hgnc": "HGNC:10263",
        "name": "RP1 axonemal microtubule associated",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rp1"
      },
      {
        "slug": "rp1l1",
        "symbol": "RP1L1",
        "hgnc": "HGNC:15946",
        "name": "RP1 like 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rp1l1"
      },
      {
        "slug": "rp2",
        "symbol": "RP2",
        "hgnc": "HGNC:10274",
        "name": "RP2 activator of ARL3 GTPase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rp2"
      },
      {
        "slug": "rp9",
        "symbol": "RP9",
        "hgnc": "HGNC:10288",
        "name": "RP9 pre-mRNA splicing factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rp9"
      },
      {
        "slug": "rpe65",
        "symbol": "RPE65",
        "hgnc": "HGNC:10294",
        "name": "retinoid isomerohydrolase RPE65",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/rpe65"
      },
      {
        "slug": "rpgr",
        "symbol": "RPGR",
        "hgnc": "HGNC:10295",
        "name": "retinitis pigmentosa GTPase regulator",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpgr"
      },
      {
        "slug": "sag",
        "symbol": "SAG",
        "hgnc": "HGNC:10521",
        "name": "S-antigen visual arrestin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sag"
      },
      {
        "slug": "saxo6",
        "symbol": "SAXO6",
        "hgnc": "HGNC:29917",
        "name": "stabilizer of axonemal microtubules 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/saxo6"
      },
      {
        "slug": "scaper",
        "symbol": "SCAPER",
        "hgnc": "HGNC:13081",
        "name": "S-phase cyclin A associated protein in the ER",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scaper"
      },
      {
        "slug": "sema4a",
        "symbol": "SEMA4A",
        "hgnc": "HGNC:10729",
        "name": "semaphorin 4A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sema4a"
      },
      {
        "slug": "slc7a14",
        "symbol": "SLC7A14",
        "hgnc": "HGNC:29326",
        "name": "solute carrier family 7 member 14",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc7a14"
      },
      {
        "slug": "snrnp200",
        "symbol": "SNRNP200",
        "hgnc": "HGNC:30859",
        "name": "small nuclear ribonucleoprotein U5 subunit 200",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/snrnp200"
      },
      {
        "slug": "spata7",
        "symbol": "SPATA7",
        "hgnc": "HGNC:20423",
        "name": "spermatogenesis associated 7",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/spata7"
      },
      {
        "slug": "tmem216",
        "symbol": "TMEM216",
        "hgnc": "HGNC:25018",
        "name": "transmembrane protein 216",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem216"
      },
      {
        "slug": "topors",
        "symbol": "TOPORS",
        "hgnc": "HGNC:21653",
        "name": "TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/topors"
      },
      {
        "slug": "ttc8",
        "symbol": "TTC8",
        "hgnc": "HGNC:20087",
        "name": "tetratricopeptide repeat domain 8",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ttc8"
      },
      {
        "slug": "tub",
        "symbol": "TUB",
        "hgnc": "HGNC:12406",
        "name": "TUB bipartite transcription factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tub"
      },
      {
        "slug": "tulp1",
        "symbol": "TULP1",
        "hgnc": "HGNC:12423",
        "name": "TUB like protein 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tulp1"
      },
      {
        "slug": "ush2a",
        "symbol": "USH2A",
        "hgnc": "HGNC:12601",
        "name": "usherin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ush2a"
      },
      {
        "slug": "znf408",
        "symbol": "ZNF408",
        "hgnc": "HGNC:20041",
        "name": "zinc finger protein 408",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znf408"
      },
      {
        "slug": "znf513",
        "symbol": "ZNF513",
        "hgnc": "HGNC:26498",
        "name": "zinc finger protein 513",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znf513"
      },
      {
        "slug": "aipl1",
        "symbol": "AIPL1",
        "hgnc": "HGNC:359",
        "name": "AIP like 1 HSP90 co-chaperone",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aipl1"
      },
      {
        "slug": "cep290",
        "symbol": "CEP290",
        "hgnc": "HGNC:29021",
        "name": "centrosomal protein 290",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep290"
      },
      {
        "slug": "gdf6",
        "symbol": "GDF6",
        "hgnc": "HGNC:4221",
        "name": "growth differentiation factor 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gdf6"
      },
      {
        "slug": "gucy2d",
        "symbol": "GUCY2D",
        "hgnc": "HGNC:4689",
        "name": "guanylate cyclase 2D, retinal",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/gucy2d"
      },
      {
        "slug": "iqcb1",
        "symbol": "IQCB1",
        "hgnc": "HGNC:28949",
        "name": "IQ motif containing B1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/iqcb1"
      },
      {
        "slug": "nmnat1",
        "symbol": "NMNAT1",
        "hgnc": "HGNC:17877",
        "name": "nicotinamide nucleotide adenylyltransferase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nmnat1"
      },
      {
        "slug": "pcyt1a",
        "symbol": "PCYT1A",
        "hgnc": "HGNC:8754",
        "name": "phosphate cytidylyltransferase 1A, choline",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pcyt1a"
      },
      {
        "slug": "rd3",
        "symbol": "RD3",
        "hgnc": "HGNC:19689",
        "name": "RD3 regulator of GUCY2D",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rd3"
      },
      {
        "slug": "rpgrip1",
        "symbol": "RPGRIP1",
        "hgnc": "HGNC:13436",
        "name": "RPGR interacting protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpgrip1"
      },
      {
        "slug": "tmem98",
        "symbol": "TMEM98",
        "hgnc": "HGNC:24529",
        "name": "transmembrane protein 98",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem98"
      },
      {
        "slug": "tubb4b",
        "symbol": "TUBB4B",
        "hgnc": "HGNC:20771",
        "name": "tubulin beta 4B class IVb",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tubb4b"
      },
      {
        "slug": "usp45",
        "symbol": "USP45",
        "hgnc": "HGNC:20080",
        "name": "ubiquitin specific peptidase 45",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/usp45"
      },
      {
        "slug": "abcc6",
        "symbol": "ABCC6",
        "hgnc": "HGNC:57",
        "name": "ATP binding cassette subfamily C member 6",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abcc6"
      },
      {
        "slug": "xylt1",
        "symbol": "XYLT1",
        "hgnc": "HGNC:15516",
        "name": "xylosyltransferase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xylt1"
      },
      {
        "slug": "xylt2",
        "symbol": "XYLT2",
        "hgnc": "HGNC:15517",
        "name": "xylosyltransferase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xylt2"
      }
    ]
  }
}