{
  "url": "https://dantelabs.com/traits/macular-degeneration",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "macular-degeneration",
    "id": "HP:0000608",
    "name": "Macular degeneration",
    "definition": "A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-macular-morphology",
        "name": "Abnormal macular morphology",
        "url": "https://dantelabs.com/traits/abnormal-macular-morphology"
      },
      {
        "slug": "retinal-degeneration",
        "name": "Retina degeneration",
        "url": "https://dantelabs.com/traits/retinal-degeneration"
      }
    ],
    "narrower": [
      {
        "slug": "macular-atrophy",
        "name": "Macular atrophy",
        "genes": 47,
        "url": "https://dantelabs.com/traits/macular-atrophy"
      },
      {
        "slug": "cystoid-macular-degeneration",
        "name": "Cystoid macular degeneration",
        "genes": 4,
        "url": "https://dantelabs.com/traits/cystoid-macular-degeneration"
      }
    ],
    "genes": [
      {
        "slug": "cdh3",
        "symbol": "CDH3",
        "hgnc": "HGNC:1762",
        "name": "cadherin 3",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cdh3"
      },
      {
        "slug": "cep78",
        "symbol": "CEP78",
        "hgnc": "HGNC:25740",
        "name": "centrosomal protein 78",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep78"
      },
      {
        "slug": "fbn2",
        "symbol": "FBN2",
        "hgnc": "HGNC:3604",
        "name": "fibrillin 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbn2"
      },
      {
        "slug": "hyal2",
        "symbol": "HYAL2",
        "hgnc": "HGNC:5321",
        "name": "hyaluronidase 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hyal2"
      },
      {
        "slug": "prom1",
        "symbol": "PROM1",
        "hgnc": "HGNC:9454",
        "name": "prominin 1",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/prom1"
      },
      {
        "slug": "rp1l1",
        "symbol": "RP1L1",
        "hgnc": "HGNC:15946",
        "name": "RP1 like 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rp1l1"
      },
      {
        "slug": "rpgrip1",
        "symbol": "RPGRIP1",
        "hgnc": "HGNC:13436",
        "name": "RPGR interacting protein 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpgrip1"
      },
      {
        "slug": "ubap1l",
        "symbol": "UBAP1L",
        "hgnc": "HGNC:40028",
        "name": "ubiquitin associated protein 1 like",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ubap1l"
      },
      {
        "slug": "unc119",
        "symbol": "UNC119",
        "hgnc": "HGNC:12565",
        "name": "unc-119 lipid binding chaperone",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/unc119"
      },
      {
        "slug": "vwa8",
        "symbol": "VWA8",
        "hgnc": "HGNC:29071",
        "name": "von Willebrand factor A domain containing 8",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vwa8"
      },
      {
        "slug": "znf513",
        "symbol": "ZNF513",
        "hgnc": "HGNC:26498",
        "name": "zinc finger protein 513",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znf513"
      },
      {
        "slug": "abca4",
        "symbol": "ABCA4",
        "hgnc": "HGNC:34",
        "name": "ATP binding cassette subfamily A member 4",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/abca4"
      },
      {
        "slug": "apoe",
        "symbol": "APOE",
        "hgnc": "HGNC:613",
        "name": "apolipoprotein E",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/apoe"
      },
      {
        "slug": "cfhr1",
        "symbol": "CFHR1",
        "hgnc": "HGNC:4888",
        "name": "complement factor H related 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cfhr1"
      },
      {
        "slug": "cfhr3",
        "symbol": "CFHR3",
        "hgnc": "HGNC:16980",
        "name": "complement factor H related 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cfhr3"
      },
      {
        "slug": "cngb3",
        "symbol": "CNGB3",
        "hgnc": "HGNC:2153",
        "name": "cyclic nucleotide gated channel subunit beta 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cngb3"
      },
      {
        "slug": "col18a1",
        "symbol": "COL18A1",
        "hgnc": "HGNC:2195",
        "name": "collagen type XVIII alpha 1 chain",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col18a1"
      },
      {
        "slug": "elovl4",
        "symbol": "ELOVL4",
        "hgnc": "HGNC:14415",
        "name": "ELOVL fatty acid elongase 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/elovl4"
      },
      {
        "slug": "hmcn1",
        "symbol": "HMCN1",
        "hgnc": "HGNC:19194",
        "name": "hemicentin 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hmcn1"
      },
      {
        "slug": "pak2",
        "symbol": "PAK2",
        "hgnc": "HGNC:8591",
        "name": "p21 (RAC1) activated kinase 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pak2"
      },
      {
        "slug": "prpf4",
        "symbol": "PRPF4",
        "hgnc": "HGNC:17349",
        "name": "pre-mRNA splicing tri-snRNP complex factor PRPF4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prpf4"
      },
      {
        "slug": "prph2",
        "symbol": "PRPH2",
        "hgnc": "HGNC:9942",
        "name": "peripherin 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prph2"
      },
      {
        "slug": "ano10",
        "symbol": "ANO10",
        "hgnc": "HGNC:25519",
        "name": "anoctamin 10",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ano10"
      },
      {
        "slug": "c1qtnf5",
        "symbol": "C1QTNF5",
        "hgnc": "HGNC:14344",
        "name": "C1q and TNF related 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/c1qtnf5"
      },
      {
        "slug": "cp",
        "symbol": "CP",
        "hgnc": "HGNC:2295",
        "name": "ceruloplasmin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cp"
      },
      {
        "slug": "fbln1",
        "symbol": "FBLN1",
        "hgnc": "HGNC:3600",
        "name": "fibulin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbln1"
      },
      {
        "slug": "fbln5",
        "symbol": "FBLN5",
        "hgnc": "HGNC:3602",
        "name": "fibulin 5",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fbln5"
      },
      {
        "slug": "lig3",
        "symbol": "LIG3",
        "hgnc": "HGNC:6600",
        "name": "DNA ligase 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lig3"
      },
      {
        "slug": "rlbp1",
        "symbol": "RLBP1",
        "hgnc": "HGNC:10024",
        "name": "retinaldehyde binding protein 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rlbp1"
      },
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "hgnc": "HGNC:20",
        "name": "alanyl-tRNA synthetase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aars1"
      },
      {
        "slug": "abcc6",
        "symbol": "ABCC6",
        "hgnc": "HGNC:57",
        "name": "ATP binding cassette subfamily C member 6",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/abcc6"
      },
      {
        "slug": "asah1",
        "symbol": "ASAH1",
        "hgnc": "HGNC:735",
        "name": "N-acylsphingosine amidohydrolase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/asah1"
      },
      {
        "slug": "atxn7",
        "symbol": "ATXN7",
        "hgnc": "HGNC:10560",
        "name": "ataxin 7",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/atxn7"
      },
      {
        "slug": "cars1",
        "symbol": "CARS1",
        "hgnc": "HGNC:1493",
        "name": "cysteinyl-tRNA synthetase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cars1"
      },
      {
        "slug": "cngb1",
        "symbol": "CNGB1",
        "hgnc": "HGNC:2151",
        "name": "cyclic nucleotide gated channel subunit beta 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cngb1"
      },
      {
        "slug": "dbr1",
        "symbol": "DBR1",
        "hgnc": "HGNC:15594",
        "name": "debranching RNA lariats 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dbr1"
      },
      {
        "slug": "ercc2",
        "symbol": "ERCC2",
        "hgnc": "HGNC:3434",
        "name": "ERCC excision repair 2, TFIIH core complex helicase subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc2"
      },
      {
        "slug": "ercc3",
        "symbol": "ERCC3",
        "hgnc": "HGNC:3435",
        "name": "ERCC excision repair 3, TFIIH core complex helicase subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc3"
      },
      {
        "slug": "grk1",
        "symbol": "GRK1",
        "hgnc": "HGNC:10013",
        "name": "G protein-coupled receptor kinase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grk1"
      },
      {
        "slug": "gtf2e2",
        "symbol": "GTF2E2",
        "hgnc": "HGNC:4651",
        "name": "general transcription factor IIE subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2e2"
      },
      {
        "slug": "gtf2h5",
        "symbol": "GTF2H5",
        "hgnc": "HGNC:21157",
        "name": "general transcription factor IIH subunit 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2h5"
      },
      {
        "slug": "ift140",
        "symbol": "IFT140",
        "hgnc": "HGNC:29077",
        "name": "intraflagellar transport 140",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift140"
      },
      {
        "slug": "ift54",
        "symbol": "IFT54",
        "hgnc": "HGNC:17861",
        "name": "intraflagellar transport 54",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift54"
      },
      {
        "slug": "mplkip",
        "symbol": "MPLKIP",
        "hgnc": "HGNC:16002",
        "name": "M-phase specific PLK1 interacting protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mplkip"
      },
      {
        "slug": "pax2",
        "symbol": "PAX2",
        "hgnc": "HGNC:8616",
        "name": "paired box 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pax2"
      },
      {
        "slug": "prpf31",
        "symbol": "PRPF31",
        "hgnc": "HGNC:15446",
        "name": "pre-mRNA processing factor 31",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prpf31"
      },
      {
        "slug": "rnf113a",
        "symbol": "RNF113A",
        "hgnc": "HGNC:12974",
        "name": "ring finger protein 113A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnf113a"
      },
      {
        "slug": "sag",
        "symbol": "SAG",
        "hgnc": "HGNC:10521",
        "name": "S-antigen visual arrestin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sag"
      },
      {
        "slug": "tars1",
        "symbol": "TARS1",
        "hgnc": "HGNC:11572",
        "name": "threonyl-tRNA synthetase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tars1"
      },
      {
        "slug": "xylt1",
        "symbol": "XYLT1",
        "hgnc": "HGNC:15516",
        "name": "xylosyltransferase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xylt1"
      },
      {
        "slug": "xylt2",
        "symbol": "XYLT2",
        "hgnc": "HGNC:15517",
        "name": "xylosyltransferase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xylt2"
      },
      {
        "slug": "aldh3a2",
        "symbol": "ALDH3A2",
        "hgnc": "HGNC:403",
        "name": "aldehyde dehydrogenase 3 family member A2",
        "frequency": "very-rare",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/aldh3a2"
      },
      {
        "slug": "c9",
        "symbol": "C9",
        "hgnc": "HGNC:1358",
        "name": "complement C9",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/c9"
      },
      {
        "slug": "cfh",
        "symbol": "CFH",
        "hgnc": "HGNC:4883",
        "name": "complement factor H",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cfh"
      },
      {
        "slug": "cfi",
        "symbol": "CFI",
        "hgnc": "HGNC:5394",
        "name": "complement factor I",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cfi"
      },
      {
        "slug": "cln3",
        "symbol": "CLN3",
        "hgnc": "HGNC:2074",
        "name": "CLN3 lysosomal/endosomal transmembrane protein, battenin",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cln3"
      },
      {
        "slug": "cst3",
        "symbol": "CST3",
        "hgnc": "HGNC:2475",
        "name": "cystatin C",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cst3"
      },
      {
        "slug": "guca1b",
        "symbol": "GUCA1B",
        "hgnc": "HGNC:4679",
        "name": "guanylate cyclase activator 1B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/guca1b"
      },
      {
        "slug": "pitpnm3",
        "symbol": "PITPNM3",
        "hgnc": "HGNC:21043",
        "name": "PITPNM family member 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pitpnm3"
      },
      {
        "slug": "ppt1",
        "symbol": "PPT1",
        "hgnc": "HGNC:9325",
        "name": "palmitoyl-protein thioesterase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppt1"
      },
      {
        "slug": "prcd",
        "symbol": "PRCD",
        "hgnc": "HGNC:32528",
        "name": "photoreceptor disc component",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prcd"
      },
      {
        "slug": "rax2",
        "symbol": "RAX2",
        "hgnc": "HGNC:18286",
        "name": "retina and anterior neural fold homeobox 2",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rax2"
      },
      {
        "slug": "rpgr",
        "symbol": "RPGR",
        "hgnc": "HGNC:10295",
        "name": "retinitis pigmentosa GTPase regulator",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpgr"
      },
      {
        "slug": "scaper",
        "symbol": "SCAPER",
        "hgnc": "HGNC:13081",
        "name": "S-phase cyclin A associated protein in the ER",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scaper"
      },
      {
        "slug": "sema4a",
        "symbol": "SEMA4A",
        "hgnc": "HGNC:10729",
        "name": "semaphorin 4A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sema4a"
      },
      {
        "slug": "spg11",
        "symbol": "SPG11",
        "hgnc": "HGNC:11226",
        "name": "SPG11 vesicle trafficking associated, spatacsin",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spg11"
      },
      {
        "slug": "ttc8",
        "symbol": "TTC8",
        "hgnc": "HGNC:20087",
        "name": "tetratricopeptide repeat domain 8",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ttc8"
      },
      {
        "slug": "zfyve26",
        "symbol": "ZFYVE26",
        "hgnc": "HGNC:20761",
        "name": "zinc finger FYVE-type containing 26",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zfyve26"
      }
    ]
  }
}