{
  "url": "https://dantelabs.com/traits/retinal-dystrophy",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "retinal-dystrophy",
    "id": "HP:0000556",
    "name": "Breakdown of light-sensitive cells in back of eye",
    "label": "Retinal dystrophy",
    "definition": "Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-retinal-morphology",
        "name": "Retina issue",
        "url": "https://dantelabs.com/traits/abnormal-retinal-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "rod-cone-dystrophy",
        "name": "Rod-cone dystrophy",
        "genes": 249,
        "url": "https://dantelabs.com/traits/rod-cone-dystrophy"
      },
      {
        "slug": "cone-cone-rod-dystrophy",
        "name": "Cone/cone-rod dystrophy",
        "genes": 54,
        "url": "https://dantelabs.com/traits/cone-cone-rod-dystrophy"
      },
      {
        "slug": "macular-dystrophy",
        "name": "Macular dystrophy",
        "genes": 22,
        "url": "https://dantelabs.com/traits/macular-dystrophy"
      },
      {
        "slug": "chorioretinal-dystrophy",
        "name": "Chorioretinal dystrophy",
        "genes": 3,
        "url": "https://dantelabs.com/traits/chorioretinal-dystrophy"
      },
      {
        "slug": "cone-dystrophy",
        "name": "Cone dystrophy",
        "genes": 2,
        "url": "https://dantelabs.com/traits/cone-dystrophy"
      }
    ],
    "genes": [
      {
        "slug": "aco2",
        "symbol": "ACO2",
        "hgnc": "HGNC:118",
        "name": "aconitase 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aco2"
      },
      {
        "slug": "arl6",
        "symbol": "ARL6",
        "hgnc": "HGNC:13210",
        "name": "ARF like GTPase 6",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/arl6"
      },
      {
        "slug": "arv1",
        "symbol": "ARV1",
        "hgnc": "HGNC:29561",
        "name": "ARV1 fatty acid homeostasis modulator",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arv1"
      },
      {
        "slug": "bbip1",
        "symbol": "BBIP1",
        "hgnc": "HGNC:28093",
        "name": "BBSome interacting protein 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/bbip1"
      },
      {
        "slug": "bbs1",
        "symbol": "BBS1",
        "hgnc": "HGNC:966",
        "name": "Bardet-Biedl syndrome 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/bbs1"
      },
      {
        "slug": "bbs10",
        "symbol": "BBS10",
        "hgnc": "HGNC:26291",
        "name": "Bardet-Biedl syndrome 10",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/bbs10"
      },
      {
        "slug": "bbs12",
        "symbol": "BBS12",
        "hgnc": "HGNC:26648",
        "name": "Bardet-Biedl syndrome 12",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bbs12"
      },
      {
        "slug": "bbs2",
        "symbol": "BBS2",
        "hgnc": "HGNC:967",
        "name": "Bardet-Biedl syndrome 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bbs2"
      },
      {
        "slug": "bbs4",
        "symbol": "BBS4",
        "hgnc": "HGNC:969",
        "name": "Bardet-Biedl syndrome 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bbs4"
      },
      {
        "slug": "bbs5",
        "symbol": "BBS5",
        "hgnc": "HGNC:970",
        "name": "Bardet-Biedl syndrome 5",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bbs5"
      },
      {
        "slug": "bbs7",
        "symbol": "BBS7",
        "hgnc": "HGNC:18758",
        "name": "Bardet-Biedl syndrome 7",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bbs7"
      },
      {
        "slug": "bbs9",
        "symbol": "BBS9",
        "hgnc": "HGNC:30000",
        "name": "Bardet-Biedl syndrome 9",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bbs9"
      },
      {
        "slug": "cep19",
        "symbol": "CEP19",
        "hgnc": "HGNC:28209",
        "name": "centrosomal protein 19",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep19"
      },
      {
        "slug": "cep290",
        "symbol": "CEP290",
        "hgnc": "HGNC:29021",
        "name": "centrosomal protein 290",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/cep290"
      },
      {
        "slug": "cfap410",
        "symbol": "CFAP410",
        "hgnc": "HGNC:1260",
        "name": "cilia and flagella associated protein 410",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cfap410"
      },
      {
        "slug": "cfap418",
        "symbol": "CFAP418",
        "hgnc": "HGNC:27232",
        "name": "cilia and flagella associated protein 418",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cfap418"
      },
      {
        "slug": "dag1",
        "symbol": "DAG1",
        "hgnc": "HGNC:2666",
        "name": "dystroglycan 1",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/dag1"
      },
      {
        "slug": "fdxr",
        "symbol": "FDXR",
        "hgnc": "HGNC:3642",
        "name": "ferredoxin reductase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fdxr"
      },
      {
        "slug": "ift140",
        "symbol": "IFT140",
        "hgnc": "HGNC:29077",
        "name": "intraflagellar transport 140",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ift140"
      },
      {
        "slug": "ift172",
        "symbol": "IFT172",
        "hgnc": "HGNC:30391",
        "name": "intraflagellar transport 172",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift172"
      },
      {
        "slug": "ift27",
        "symbol": "IFT27",
        "hgnc": "HGNC:18626",
        "name": "intraflagellar transport 27",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift27"
      },
      {
        "slug": "ift74",
        "symbol": "IFT74",
        "hgnc": "HGNC:21424",
        "name": "intraflagellar transport 74",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift74"
      },
      {
        "slug": "ints11",
        "symbol": "INTS11",
        "hgnc": "HGNC:26052",
        "name": "integrator complex subunit 11",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ints11"
      },
      {
        "slug": "lztfl1",
        "symbol": "LZTFL1",
        "hgnc": "HGNC:6741",
        "name": "leucine zipper transcription factor like 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lztfl1"
      },
      {
        "slug": "mkks",
        "symbol": "MKKS",
        "hgnc": "HGNC:7108",
        "name": "MKKS centrosomal shuttling protein",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mkks"
      },
      {
        "slug": "mks1",
        "symbol": "MKS1",
        "hgnc": "HGNC:7121",
        "name": "MKS transition zone complex subunit 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mks1"
      },
      {
        "slug": "mpv17",
        "symbol": "MPV17",
        "hgnc": "HGNC:7224",
        "name": "mitochondrial inner membrane protein MPV17",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mpv17"
      },
      {
        "slug": "nphp1",
        "symbol": "NPHP1",
        "hgnc": "HGNC:7905",
        "name": "nephrocystin 1",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/nphp1"
      },
      {
        "slug": "pgap1",
        "symbol": "PGAP1",
        "hgnc": "HGNC:25712",
        "name": "post-GPI attachment to proteins inositol deacylase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pgap1"
      },
      {
        "slug": "piga",
        "symbol": "PIGA",
        "hgnc": "HGNC:8957",
        "name": "phosphatidylinositol glycan anchor biosynthesis class A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/piga"
      },
      {
        "slug": "rcbtb1",
        "symbol": "RCBTB1",
        "hgnc": "HGNC:18243",
        "name": "RCC1 and BTB domain containing protein 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rcbtb1"
      },
      {
        "slug": "rdh11",
        "symbol": "RDH11",
        "hgnc": "HGNC:17964",
        "name": "retinol dehydrogenase 11",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rdh11"
      },
      {
        "slug": "rnu6atac",
        "symbol": "RNU6ATAC",
        "hgnc": "HGNC:34017",
        "name": "RNA, U6atac small nuclear",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu6atac"
      },
      {
        "slug": "scaper",
        "symbol": "SCAPER",
        "hgnc": "HGNC:13081",
        "name": "S-phase cyclin A associated protein in the ER",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scaper"
      },
      {
        "slug": "sclt1",
        "symbol": "SCLT1",
        "hgnc": "HGNC:26406",
        "name": "sodium channel and clathrin linker 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sclt1"
      },
      {
        "slug": "sdccag8",
        "symbol": "SDCCAG8",
        "hgnc": "HGNC:10671",
        "name": "SHH signaling and ciliogenesis regulator SDCCAG8",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/sdccag8"
      },
      {
        "slug": "tmem218",
        "symbol": "TMEM218",
        "hgnc": "HGNC:27344",
        "name": "transmembrane protein 218",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem218"
      },
      {
        "slug": "tmem63b",
        "symbol": "TMEM63B",
        "hgnc": "HGNC:17735",
        "name": "transmembrane protein 63B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem63b"
      },
      {
        "slug": "trim32",
        "symbol": "TRIM32",
        "hgnc": "HGNC:16380",
        "name": "tripartite motif containing 32",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trim32"
      },
      {
        "slug": "ttc8",
        "symbol": "TTC8",
        "hgnc": "HGNC:20087",
        "name": "tetratricopeptide repeat domain 8",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ttc8"
      },
      {
        "slug": "tub",
        "symbol": "TUB",
        "hgnc": "HGNC:12406",
        "name": "TUB bipartite transcription factor",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tub"
      },
      {
        "slug": "ubap1l",
        "symbol": "UBAP1L",
        "hgnc": "HGNC:40028",
        "name": "ubiquitin associated protein 1 like",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ubap1l"
      },
      {
        "slug": "wdpcp",
        "symbol": "WDPCP",
        "hgnc": "HGNC:28027",
        "name": "WD repeat containing planar cell polarity effector",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdpcp"
      },
      {
        "slug": "ahi1",
        "symbol": "AHI1",
        "hgnc": "HGNC:21575",
        "name": "Abelson helper integration site 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ahi1"
      },
      {
        "slug": "alms1",
        "symbol": "ALMS1",
        "hgnc": "HGNC:428",
        "name": "ALMS1 centrosome and basal body associated protein",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alms1"
      },
      {
        "slug": "b3galnt2",
        "symbol": "B3GALNT2",
        "hgnc": "HGNC:28596",
        "name": "beta-1,3-N-acetylgalactosaminyltransferase 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b3galnt2"
      },
      {
        "slug": "b4gat1",
        "symbol": "B4GAT1",
        "hgnc": "HGNC:15685",
        "name": "beta-1,4-glucuronyltransferase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b4gat1"
      },
      {
        "slug": "cc2d2a",
        "symbol": "CC2D2A",
        "hgnc": "HGNC:29253",
        "name": "coiled-coil and C2 domain containing 2A",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cc2d2a"
      },
      {
        "slug": "cep120",
        "symbol": "CEP120",
        "hgnc": "HGNC:26690",
        "name": "centrosomal protein 120",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep120"
      },
      {
        "slug": "cep164",
        "symbol": "CEP164",
        "hgnc": "HGNC:29182",
        "name": "centrosomal protein 164",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep164"
      },
      {
        "slug": "cep41",
        "symbol": "CEP41",
        "hgnc": "HGNC:12370",
        "name": "centrosomal protein 41",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cep41"
      },
      {
        "slug": "col4a1",
        "symbol": "COL4A1",
        "hgnc": "HGNC:2202",
        "name": "collagen type IV alpha 1 chain",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col4a1"
      },
      {
        "slug": "crppa",
        "symbol": "CRPPA",
        "hgnc": "HGNC:37276",
        "name": "CDP-L-ribitol pyrophosphorylase A",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/crppa"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "hgnc": "HGNC:17997",
        "name": "fukutin related protein",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fkrp"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "hgnc": "HGNC:3622",
        "name": "fukutin",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fktn"
      },
      {
        "slug": "ift54",
        "symbol": "IFT54",
        "hgnc": "HGNC:17861",
        "name": "intraflagellar transport 54",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ift54"
      },
      {
        "slug": "inpp5e",
        "symbol": "INPP5E",
        "hgnc": "HGNC:21474",
        "name": "inositol polyphosphate-5-phosphatase E",
        "frequency": "very-frequent",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/inpp5e"
      },
      {
        "slug": "invs",
        "symbol": "INVS",
        "hgnc": "HGNC:17870",
        "name": "inversin",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/invs"
      },
      {
        "slug": "iqcb1",
        "symbol": "IQCB1",
        "hgnc": "HGNC:28949",
        "name": "IQ motif containing B1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/iqcb1"
      },
      {
        "slug": "large1",
        "symbol": "LARGE1",
        "hgnc": "HGNC:6511",
        "name": "LARGE xylosyl- and glucuronyltransferase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/large1"
      },
      {
        "slug": "nphp3",
        "symbol": "NPHP3",
        "hgnc": "HGNC:7907",
        "name": "nephrocystin 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nphp3"
      },
      {
        "slug": "nphp4",
        "symbol": "NPHP4",
        "hgnc": "HGNC:19104",
        "name": "nephrocystin 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nphp4"
      },
      {
        "slug": "pomgnt1",
        "symbol": "POMGNT1",
        "hgnc": "HGNC:19139",
        "name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomgnt1"
      },
      {
        "slug": "pomgnt2",
        "symbol": "POMGNT2",
        "hgnc": "HGNC:25902",
        "name": "protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomgnt2"
      },
      {
        "slug": "pomk",
        "symbol": "POMK",
        "hgnc": "HGNC:26267",
        "name": "protein O-mannose kinase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomk"
      },
      {
        "slug": "pomt1",
        "symbol": "POMT1",
        "hgnc": "HGNC:9202",
        "name": "protein O-mannosyltransferase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomt1"
      },
      {
        "slug": "pomt2",
        "symbol": "POMT2",
        "hgnc": "HGNC:19743",
        "name": "protein O-mannosyltransferase 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomt2"
      },
      {
        "slug": "rxylt1",
        "symbol": "RXYLT1",
        "hgnc": "HGNC:13530",
        "name": "ribitol xylosyltransferase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rxylt1"
      },
      {
        "slug": "sh2b1",
        "symbol": "SH2B1",
        "hgnc": "HGNC:30417",
        "name": "SH2B adaptor protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sh2b1"
      },
      {
        "slug": "tmem138",
        "symbol": "TMEM138",
        "hgnc": "HGNC:26944",
        "name": "transmembrane protein 138",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tmem138"
      },
      {
        "slug": "tmem216",
        "symbol": "TMEM216",
        "hgnc": "HGNC:25018",
        "name": "transmembrane protein 216",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tmem216"
      },
      {
        "slug": "tmem231",
        "symbol": "TMEM231",
        "hgnc": "HGNC:37234",
        "name": "transmembrane protein 231",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem231"
      },
      {
        "slug": "tmem237",
        "symbol": "TMEM237",
        "hgnc": "HGNC:14432",
        "name": "transmembrane protein 237",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem237"
      },
      {
        "slug": "wdr19",
        "symbol": "WDR19",
        "hgnc": "HGNC:18340",
        "name": "WD repeat domain 19",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/wdr19"
      },
      {
        "slug": "znf423",
        "symbol": "ZNF423",
        "hgnc": "HGNC:16762",
        "name": "zinc finger protein 423",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znf423"
      },
      {
        "slug": "bud13",
        "symbol": "BUD13",
        "hgnc": "HGNC:28199",
        "name": "BUD13 spliceosome associated protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bud13"
      },
      {
        "slug": "cilk1",
        "symbol": "CILK1",
        "hgnc": "HGNC:21219",
        "name": "ciliogenesis associated kinase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cilk1"
      },
      {
        "slug": "ddr2",
        "symbol": "DDR2",
        "hgnc": "HGNC:2731",
        "name": "discoidin domain receptor tyrosine kinase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ddr2"
      },
      {
        "slug": "grn",
        "symbol": "GRN",
        "hgnc": "HGNC:4601",
        "name": "granulin precursor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grn"
      },
      {
        "slug": "hace1",
        "symbol": "HACE1",
        "hgnc": "HGNC:21033",
        "name": "HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hace1"
      },
      {
        "slug": "prps1",
        "symbol": "PRPS1",
        "hgnc": "HGNC:9462",
        "name": "phosphoribosyl pyrophosphate synthetase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prps1"
      },
      {
        "slug": "rnf113a",
        "symbol": "RNF113A",
        "hgnc": "HGNC:12974",
        "name": "ring finger protein 113A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnf113a"
      },
      {
        "slug": "rnu4atac",
        "symbol": "RNU4ATAC",
        "hgnc": "HGNC:34016",
        "name": "RNA, U4atac small nuclear",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rnu4atac"
      },
      {
        "slug": "vps4a",
        "symbol": "VPS4A",
        "hgnc": "HGNC:13488",
        "name": "vacuolar protein sorting 4 homolog A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps4a"
      },
      {
        "slug": "ank1",
        "symbol": "ANK1",
        "hgnc": "HGNC:492",
        "name": "ankyrin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ank1"
      },
      {
        "slug": "armc9",
        "symbol": "ARMC9",
        "hgnc": "HGNC:20730",
        "name": "armadillo repeat containing 9",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/armc9"
      },
      {
        "slug": "bmp4",
        "symbol": "BMP4",
        "hgnc": "HGNC:1071",
        "name": "bone morphogenetic protein 4",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/bmp4"
      },
      {
        "slug": "ccnq",
        "symbol": "CCNQ",
        "hgnc": "HGNC:28434",
        "name": "cyclin Q",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ccnq"
      },
      {
        "slug": "clcn3",
        "symbol": "CLCN3",
        "hgnc": "HGNC:2021",
        "name": "Cl-/H+ antiporter 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/clcn3"
      },
      {
        "slug": "cox7b",
        "symbol": "COX7B",
        "hgnc": "HGNC:2291",
        "name": "cytochrome c oxidase subunit 7B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cox7b"
      },
      {
        "slug": "cryab",
        "symbol": "CRYAB",
        "hgnc": "HGNC:2389",
        "name": "crystallin alpha B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cryab"
      },
      {
        "slug": "cspp1",
        "symbol": "CSPP1",
        "hgnc": "HGNC:26193",
        "name": "centrosome and spindle pole associated protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cspp1"
      },
      {
        "slug": "dnajc21",
        "symbol": "DNAJC21",
        "hgnc": "HGNC:27030",
        "name": "DnaJ heat shock protein family (Hsp40) member C21",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnajc21"
      },
      {
        "slug": "exosc3",
        "symbol": "EXOSC3",
        "hgnc": "HGNC:17944",
        "name": "exosome component 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/exosc3"
      },
      {
        "slug": "hccs",
        "symbol": "HCCS",
        "hgnc": "HGNC:4837",
        "name": "holocytochrome c synthase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hccs"
      },
      {
        "slug": "hid1",
        "symbol": "HID1",
        "hgnc": "HGNC:15736",
        "name": "HID1 domain containing",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hid1"
      },
      {
        "slug": "ift122",
        "symbol": "IFT122",
        "hgnc": "HGNC:13556",
        "name": "intraflagellar transport 122",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift122"
      },
      {
        "slug": "kiaa0586",
        "symbol": "KIAA0586",
        "hgnc": "HGNC:19960",
        "name": "KIAA0586",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kiaa0586"
      },
      {
        "slug": "kif11",
        "symbol": "KIF11",
        "hgnc": "HGNC:6388",
        "name": "kinesin family member 11",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif11"
      },
      {
        "slug": "lama1",
        "symbol": "LAMA1",
        "hgnc": "HGNC:6481",
        "name": "laminin subunit alpha 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/lama1"
      },
      {
        "slug": "lrp2",
        "symbol": "LRP2",
        "hgnc": "HGNC:6694",
        "name": "LDL receptor related protein 2",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/lrp2"
      },
      {
        "slug": "ndufb11",
        "symbol": "NDUFB11",
        "hgnc": "HGNC:20372",
        "name": "NADH:ubiquinone oxidoreductase subunit B11",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufb11"
      },
      {
        "slug": "pgk1",
        "symbol": "PGK1",
        "hgnc": "HGNC:8896",
        "name": "phosphoglycerate kinase 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pgk1"
      },
      {
        "slug": "slc19a2",
        "symbol": "SLC19A2",
        "hgnc": "HGNC:10938",
        "name": "solute carrier family 19 member 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc19a2"
      },
      {
        "slug": "zpr1",
        "symbol": "ZPR1",
        "hgnc": "HGNC:13051",
        "name": "ZPR1 zinc finger",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zpr1"
      },
      {
        "slug": "ercc6",
        "symbol": "ERCC6",
        "hgnc": "HGNC:3438",
        "name": "ERCC excision repair 6, chromatin remodeling factor",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc6"
      },
      {
        "slug": "ercc8",
        "symbol": "ERCC8",
        "hgnc": "HGNC:3439",
        "name": "ERCC excision repair 8, CSA ubiquitin ligase complex subunit",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc8"
      },
      {
        "slug": "nek1",
        "symbol": "NEK1",
        "hgnc": "HGNC:7744",
        "name": "NIMA related kinase 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nek1"
      },
      {
        "slug": "ccdc28b",
        "symbol": "CCDC28B",
        "hgnc": "HGNC:28163",
        "name": "coiled-coil domain containing 28B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ccdc28b"
      },
      {
        "slug": "dram2",
        "symbol": "DRAM2",
        "hgnc": "HGNC:28769",
        "name": "DNA damage regulated autophagy modulator 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dram2"
      },
      {
        "slug": "efemp1",
        "symbol": "EFEMP1",
        "hgnc": "HGNC:3218",
        "name": "EGF-like fibulin extracellular matrix protein 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/efemp1"
      },
      {
        "slug": "itm2b",
        "symbol": "ITM2B",
        "hgnc": "HGNC:6174",
        "name": "integral membrane protein 2B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/itm2b"
      },
      {
        "slug": "lrat",
        "symbol": "LRAT",
        "hgnc": "HGNC:6685",
        "name": "lecithin retinol acyltransferase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrat"
      },
      {
        "slug": "otx2",
        "symbol": "OTX2",
        "hgnc": "HGNC:8522",
        "name": "orthodenticle homeobox 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/otx2"
      },
      {
        "slug": "pex10",
        "symbol": "PEX10",
        "hgnc": "HGNC:8851",
        "name": "peroxisomal biogenesis factor 10",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex10"
      },
      {
        "slug": "pex12",
        "symbol": "PEX12",
        "hgnc": "HGNC:8854",
        "name": "peroxisomal biogenesis factor 12",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex12"
      },
      {
        "slug": "pex16",
        "symbol": "PEX16",
        "hgnc": "HGNC:8857",
        "name": "peroxisomal biogenesis factor 16",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex16"
      },
      {
        "slug": "pex2",
        "symbol": "PEX2",
        "hgnc": "HGNC:9717",
        "name": "peroxisomal biogenesis factor 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex2"
      },
      {
        "slug": "pex26",
        "symbol": "PEX26",
        "hgnc": "HGNC:22965",
        "name": "peroxisomal biogenesis factor 26",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex26"
      },
      {
        "slug": "pex6",
        "symbol": "PEX6",
        "hgnc": "HGNC:8859",
        "name": "peroxisomal biogenesis factor 6",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex6"
      },
      {
        "slug": "pnpla6",
        "symbol": "PNPLA6",
        "hgnc": "HGNC:16268",
        "name": "patatin like domain 6, lysophospholipase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pnpla6"
      },
      {
        "slug": "rbp4",
        "symbol": "RBP4",
        "hgnc": "HGNC:9922",
        "name": "retinol binding protein 4",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rbp4"
      },
      {
        "slug": "rdh12",
        "symbol": "RDH12",
        "hgnc": "HGNC:19977",
        "name": "retinol dehydrogenase 12",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rdh12"
      },
      {
        "slug": "rlbp1",
        "symbol": "RLBP1",
        "hgnc": "HGNC:10024",
        "name": "retinaldehyde binding protein 1",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rlbp1"
      },
      {
        "slug": "rpgrip1l",
        "symbol": "RPGRIP1L",
        "hgnc": "HGNC:29168",
        "name": "RPGRIP1 like",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpgrip1l"
      },
      {
        "slug": "six6",
        "symbol": "SIX6",
        "hgnc": "HGNC:10892",
        "name": "SIX homeobox 6",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/six6"
      },
      {
        "slug": "tubgcp6",
        "symbol": "TUBGCP6",
        "hgnc": "HGNC:18127",
        "name": "tubulin gamma complex component 6",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tubgcp6"
      }
    ]
  }
}