{
  "url": "https://dantelabs.com/traits/bulbar-signs",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "bulbar-signs",
    "id": "HP:0002483",
    "name": "Bulbar signs",
    "synonyms": [],
    "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": "abnormal-nervous-system-physiology",
        "name": "Abnormal nervous system physiology",
        "url": "https://dantelabs.com/traits/abnormal-nervous-system-physiology"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "ptpmt1",
        "symbol": "PTPMT1",
        "hgnc": "HGNC:26965",
        "name": "protein tyrosine phosphatase mitochondrial 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptpmt1"
      },
      {
        "slug": "als2",
        "symbol": "ALS2",
        "hgnc": "HGNC:443",
        "name": "alsin Rho guanine nucleotide exchange factor ALS2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/als2"
      },
      {
        "slug": "atp13a2",
        "symbol": "ATP13A2",
        "hgnc": "HGNC:30213",
        "name": "ATPase cation transporting 13A2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp13a2"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "hgnc": "HGNC:801",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/atp1a3"
      },
      {
        "slug": "atxn1",
        "symbol": "ATXN1",
        "hgnc": "HGNC:10548",
        "name": "ataxin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atxn1"
      },
      {
        "slug": "erlin1",
        "symbol": "ERLIN1",
        "hgnc": "HGNC:16947",
        "name": "ER lipid raft associated 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/erlin1"
      },
      {
        "slug": "fig4",
        "symbol": "FIG4",
        "hgnc": "HGNC:16873",
        "name": "FIG4 phosphoinositide 5-phosphatase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fig4"
      },
      {
        "slug": "fus",
        "symbol": "FUS",
        "hgnc": "HGNC:4010",
        "name": "FUS RNA binding protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fus"
      },
      {
        "slug": "gne",
        "symbol": "GNE",
        "hgnc": "HGNC:23657",
        "name": "glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gne"
      },
      {
        "slug": "nek1",
        "symbol": "NEK1",
        "hgnc": "HGNC:7744",
        "name": "NIMA related kinase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nek1"
      },
      {
        "slug": "pla2g6",
        "symbol": "PLA2G6",
        "hgnc": "HGNC:9039",
        "name": "phospholipase A2 group VI",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pla2g6"
      },
      {
        "slug": "plaa",
        "symbol": "PLAA",
        "hgnc": "HGNC:9043",
        "name": "phospholipase A2 activating protein",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/plaa"
      },
      {
        "slug": "sigmar1",
        "symbol": "SIGMAR1",
        "hgnc": "HGNC:8157",
        "name": "sigma receptor chaperone 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sigmar1"
      },
      {
        "slug": "slc39a14",
        "symbol": "SLC39A14",
        "hgnc": "HGNC:20858",
        "name": "solute carrier family 39 member 14",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc39a14"
      },
      {
        "slug": "sord",
        "symbol": "SORD",
        "hgnc": "HGNC:11184",
        "name": "sorbitol dehydrogenase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sord"
      },
      {
        "slug": "spg11",
        "symbol": "SPG11",
        "hgnc": "HGNC:11226",
        "name": "SPG11 vesicle trafficking associated, spatacsin",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/spg11"
      },
      {
        "slug": "sptlc1",
        "symbol": "SPTLC1",
        "hgnc": "HGNC:11277",
        "name": "serine palmitoyltransferase long chain base subunit 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptlc1"
      },
      {
        "slug": "sptlc2",
        "symbol": "SPTLC2",
        "hgnc": "HGNC:11278",
        "name": "serine palmitoyltransferase long chain base subunit 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptlc2"
      },
      {
        "slug": "syne1",
        "symbol": "SYNE1",
        "hgnc": "HGNC:17089",
        "name": "spectrin repeat containing nuclear envelope protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/syne1"
      },
      {
        "slug": "tardbp",
        "symbol": "TARDBP",
        "hgnc": "HGNC:11571",
        "name": "TAR DNA binding protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tardbp"
      },
      {
        "slug": "tfg",
        "symbol": "TFG",
        "hgnc": "HGNC:11758",
        "name": "trafficking from ER to golgi regulator",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tfg"
      },
      {
        "slug": "trmt2b",
        "symbol": "TRMT2B",
        "hgnc": "HGNC:25748",
        "name": "tRNA methyltransferase 2B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trmt2b"
      },
      {
        "slug": "ubqln2",
        "symbol": "UBQLN2",
        "hgnc": "HGNC:12509",
        "name": "ubiquilin 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ubqln2"
      },
      {
        "slug": "vapb",
        "symbol": "VAPB",
        "hgnc": "HGNC:12649",
        "name": "VAMP associated protein B and C",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/vapb"
      },
      {
        "slug": "acta1",
        "symbol": "ACTA1",
        "hgnc": "HGNC:129",
        "name": "actin alpha 1, skeletal muscle",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acta1"
      },
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "hgnc": "HGNC:713",
        "name": "arylsulfatase A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arsa"
      },
      {
        "slug": "atp1a2",
        "symbol": "ATP1A2",
        "hgnc": "HGNC:800",
        "name": "ATPase Na+/K+ transporting subunit alpha 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp1a2"
      },
      {
        "slug": "cacna1a",
        "symbol": "CACNA1A",
        "hgnc": "HGNC:1388",
        "name": "calcium voltage-gated channel subunit alpha1 A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cacna1a"
      },
      {
        "slug": "kbtbd13",
        "symbol": "KBTBD13",
        "hgnc": "HGNC:37227",
        "name": "kelch repeat and BTB domain containing 13",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kbtbd13"
      },
      {
        "slug": "klhl41",
        "symbol": "KLHL41",
        "hgnc": "HGNC:16905",
        "name": "kelch like family member 41",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/klhl41"
      },
      {
        "slug": "mt-atp6",
        "symbol": "MT-ATP6",
        "hgnc": "HGNC:7414",
        "name": "mitochondrially encoded ATP synthase membrane subunit 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-atp6"
      },
      {
        "slug": "mt-nd1",
        "symbol": "MT-ND1",
        "hgnc": "HGNC:7455",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-nd1"
      },
      {
        "slug": "mt-nd2",
        "symbol": "MT-ND2",
        "hgnc": "HGNC:7456",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-nd2"
      },
      {
        "slug": "mt-nd3",
        "symbol": "MT-ND3",
        "hgnc": "HGNC:7458",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-nd3"
      },
      {
        "slug": "mt-nd4",
        "symbol": "MT-ND4",
        "hgnc": "HGNC:7459",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-nd4"
      },
      {
        "slug": "mt-nd5",
        "symbol": "MT-ND5",
        "hgnc": "HGNC:7461",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-nd5"
      },
      {
        "slug": "mt-nd6",
        "symbol": "MT-ND6",
        "hgnc": "HGNC:7462",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-nd6"
      },
      {
        "slug": "mt-tk",
        "symbol": "MT-TK",
        "hgnc": "HGNC:7489",
        "name": "mitochondrially encoded tRNA-Lys (AAA/G)",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-tk"
      },
      {
        "slug": "mt-tl1",
        "symbol": "MT-TL1",
        "hgnc": "HGNC:7490",
        "name": "mitochondrially encoded tRNA-Leu (UUA/G) 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-tl1"
      },
      {
        "slug": "mt-tl2",
        "symbol": "MT-TL2",
        "hgnc": "HGNC:7491",
        "name": "mitochondrially encoded tRNA-Leu (CUN) 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-tl2"
      },
      {
        "slug": "mt-tv",
        "symbol": "MT-TV",
        "hgnc": "HGNC:7500",
        "name": "mitochondrially encoded tRNA-Val (GUN)",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-tv"
      },
      {
        "slug": "mt-tw",
        "symbol": "MT-TW",
        "hgnc": "HGNC:7501",
        "name": "mitochondrially encoded tRNA-Trp (UGA/G)",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-tw"
      },
      {
        "slug": "mypn",
        "symbol": "MYPN",
        "hgnc": "HGNC:23246",
        "name": "myopalladin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mypn"
      },
      {
        "slug": "neb",
        "symbol": "NEB",
        "hgnc": "HGNC:7720",
        "name": "nebulin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/neb"
      },
      {
        "slug": "psap",
        "symbol": "PSAP",
        "hgnc": "HGNC:9498",
        "name": "prosaposin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/psap"
      },
      {
        "slug": "reep1",
        "symbol": "REEP1",
        "hgnc": "HGNC:25786",
        "name": "receptor accessory protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/reep1"
      },
      {
        "slug": "rhobtb2",
        "symbol": "RHOBTB2",
        "hgnc": "HGNC:18756",
        "name": "Rho related BTB domain containing 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rhobtb2"
      },
      {
        "slug": "ryr1",
        "symbol": "RYR1",
        "hgnc": "HGNC:10483",
        "name": "ryanodine receptor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ryr1"
      },
      {
        "slug": "scn2a",
        "symbol": "SCN2A",
        "hgnc": "HGNC:10588",
        "name": "sodium voltage-gated channel alpha subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn2a"
      },
      {
        "slug": "slc1a3",
        "symbol": "SLC1A3",
        "hgnc": "HGNC:10941",
        "name": "solute carrier family 1 member 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc1a3"
      },
      {
        "slug": "slc2a1",
        "symbol": "SLC2A1",
        "hgnc": "HGNC:11005",
        "name": "solute carrier family 2 member 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc2a1"
      },
      {
        "slug": "tpm2",
        "symbol": "TPM2",
        "hgnc": "HGNC:12011",
        "name": "tropomyosin 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tpm2"
      },
      {
        "slug": "tpm3",
        "symbol": "TPM3",
        "hgnc": "HGNC:12012",
        "name": "tropomyosin 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tpm3"
      },
      {
        "slug": "chchd10",
        "symbol": "CHCHD10",
        "hgnc": "HGNC:15559",
        "name": "coiled-coil-helix-coiled-coil-helix domain containing 10",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chchd10"
      },
      {
        "slug": "gsn",
        "symbol": "GSN",
        "hgnc": "HGNC:4620",
        "name": "gelsolin",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gsn"
      },
      {
        "slug": "gba1",
        "symbol": "GBA1",
        "hgnc": "HGNC:4177",
        "name": "glucosylceramidase beta 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gba1"
      },
      {
        "slug": "gfap",
        "symbol": "GFAP",
        "hgnc": "HGNC:4235",
        "name": "glial fibrillary acidic protein",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gfap"
      },
      {
        "slug": "matr3",
        "symbol": "MATR3",
        "hgnc": "HGNC:6912",
        "name": "matrin 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/matr3"
      }
    ]
  }
}