{
  "url": "https://dantelabs.com/traits/neurofibrillary-tangles",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "neurofibrillary-tangles",
    "id": "HP:0002185",
    "name": "Neurofibrillary tangles",
    "definition": "Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.",
    "synonyms": [
      "Neurofibrillary tangles composed of disordered microtubules in neurons",
      "NFTs",
      "Paired helical filaments",
      "Tau-positive neurofibrillary tangles",
      "Tau-positive tangle"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      }
    ],
    "broader": [
      {
        "slug": "cerebral-inclusion-bodies",
        "name": "Cerebral inclusion bodies",
        "url": "https://dantelabs.com/traits/cerebral-inclusion-bodies"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "apoe",
        "symbol": "APOE",
        "hgnc": "HGNC:613",
        "name": "apolipoprotein E",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/apoe"
      },
      {
        "slug": "mapt",
        "symbol": "MAPT",
        "hgnc": "HGNC:6893",
        "name": "microtubule associated protein tau",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mapt"
      },
      {
        "slug": "rab32",
        "symbol": "RAB32",
        "hgnc": "HGNC:9772",
        "name": "RAB32, member RAS oncogene family",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rab32"
      },
      {
        "slug": "vps13c",
        "symbol": "VPS13C",
        "hgnc": "HGNC:23594",
        "name": "vacuolar protein sorting 13 homolog C",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps13c"
      },
      {
        "slug": "app",
        "symbol": "APP",
        "hgnc": "HGNC:620",
        "name": "amyloid beta precursor protein",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/app"
      },
      {
        "slug": "psen1",
        "symbol": "PSEN1",
        "hgnc": "HGNC:9508",
        "name": "presenilin 1",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/psen1"
      },
      {
        "slug": "psen2",
        "symbol": "PSEN2",
        "hgnc": "HGNC:9509",
        "name": "presenilin 2",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/psen2"
      },
      {
        "slug": "sorl1",
        "symbol": "SORL1",
        "hgnc": "HGNC:11185",
        "name": "sortilin related receptor 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sorl1"
      },
      {
        "slug": "tomm40",
        "symbol": "TOMM40",
        "hgnc": "HGNC:18001",
        "name": "translocase of outer mitochondrial membrane 40",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tomm40"
      },
      {
        "slug": "trem2",
        "symbol": "TREM2",
        "hgnc": "HGNC:17761",
        "name": "triggering receptor expressed on myeloid cells 2",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/trem2"
      },
      {
        "slug": "pla2g6",
        "symbol": "PLA2G6",
        "hgnc": "HGNC:9039",
        "name": "phospholipase A2 group VI",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pla2g6"
      },
      {
        "slug": "abca7",
        "symbol": "ABCA7",
        "hgnc": "HGNC:37",
        "name": "ATP binding cassette subfamily A member 7",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abca7"
      },
      {
        "slug": "chmp2b",
        "symbol": "CHMP2B",
        "hgnc": "HGNC:24537",
        "name": "charged multivesicular body protein 2B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chmp2b"
      },
      {
        "slug": "cyld",
        "symbol": "CYLD",
        "hgnc": "HGNC:2584",
        "name": "CYLD lysine 63 deubiquitinase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyld"
      },
      {
        "slug": "grn",
        "symbol": "GRN",
        "hgnc": "HGNC:4601",
        "name": "granulin precursor",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/grn"
      },
      {
        "slug": "itm2b",
        "symbol": "ITM2B",
        "hgnc": "HGNC:6174",
        "name": "integral membrane protein 2B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/itm2b"
      },
      {
        "slug": "mpo",
        "symbol": "MPO",
        "hgnc": "HGNC:7218",
        "name": "myeloperoxidase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mpo"
      },
      {
        "slug": "npc1",
        "symbol": "NPC1",
        "hgnc": "HGNC:7897",
        "name": "NPC intracellular cholesterol transporter 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/npc1"
      },
      {
        "slug": "npc2",
        "symbol": "NPC2",
        "hgnc": "HGNC:14537",
        "name": "NPC intracellular cholesterol transporter 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/npc2"
      },
      {
        "slug": "plau",
        "symbol": "PLAU",
        "hgnc": "HGNC:9052",
        "name": "plasminogen activator, urokinase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plau"
      },
      {
        "slug": "prnp",
        "symbol": "PRNP",
        "hgnc": "HGNC:9449",
        "name": "prion protein (Kanno blood group)",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prnp"
      },
      {
        "slug": "tmem106b",
        "symbol": "TMEM106B",
        "hgnc": "HGNC:22407",
        "name": "transmembrane protein 106B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem106b"
      },
      {
        "slug": "vcp",
        "symbol": "VCP",
        "hgnc": "HGNC:12666",
        "name": "valosin containing protein",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vcp"
      }
    ]
  }
}