{
  "url": "https://dantelabs.com/traits/distal-amyotrophy",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "distal-amyotrophy",
    "id": "HP:0003693",
    "name": "Distal muscle wasting",
    "label": "Distal amyotrophy",
    "definition": "Muscular atrophy affecting muscles in the distal portions of the extremities.",
    "synonyms": [
      "Amyotrophy of distal limb muscles",
      "Distal amyotrophy, especially of the hands and feet",
      "Distal limb muscle atrophy",
      "Distal muscle atrophy",
      "Distal muscle atrophy, upper and lower limbs",
      "Distal muscle degeneration",
      "Distal muscular atrophy",
      "Muscle atrophy, distal"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-musculoskeletal-system",
        "name": "Abnormality of the musculoskeletal system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-musculoskeletal-system"
      }
    ],
    "broader": [
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      }
    ],
    "narrower": [
      {
        "slug": "distal-lower-limb-amyotrophy",
        "name": "Distal lower limb amyotrophy",
        "genes": 65,
        "url": "https://dantelabs.com/traits/distal-lower-limb-amyotrophy"
      },
      {
        "slug": "progressive-distal-muscular-atrophy",
        "name": "Progressive distal muscular atrophy",
        "genes": 35,
        "url": "https://dantelabs.com/traits/progressive-distal-muscular-atrophy"
      },
      {
        "slug": "distal-upper-limb-amyotrophy",
        "name": "Distal upper limb amyotrophy",
        "genes": 28,
        "url": "https://dantelabs.com/traits/distal-upper-limb-amyotrophy"
      },
      {
        "slug": "interosseus-muscle-atrophy",
        "name": "Interosseus muscle atrophy",
        "genes": 2,
        "url": "https://dantelabs.com/traits/interosseus-muscle-atrophy"
      }
    ],
    "genes": [
      {
        "slug": "adcy6",
        "symbol": "ADCY6",
        "hgnc": "HGNC:237",
        "name": "adenylate cyclase 6",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adcy6"
      },
      {
        "slug": "adss1",
        "symbol": "ADSS1",
        "hgnc": "HGNC:20093",
        "name": "adenylosuccinate synthase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adss1"
      },
      {
        "slug": "afg3l2",
        "symbol": "AFG3L2",
        "hgnc": "HGNC:315",
        "name": "AFG3 like matrix AAA peptidase subunit 2",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/afg3l2"
      },
      {
        "slug": "aldh18a1",
        "symbol": "ALDH18A1",
        "hgnc": "HGNC:9722",
        "name": "aldehyde dehydrogenase 18 family member A1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aldh18a1"
      },
      {
        "slug": "aptx",
        "symbol": "APTX",
        "hgnc": "HGNC:15984",
        "name": "aprataxin",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aptx"
      },
      {
        "slug": "bscl2",
        "symbol": "BSCL2",
        "hgnc": "HGNC:15832",
        "name": "BSCL2 lipid droplet biogenesis associated, seipin",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/bscl2"
      },
      {
        "slug": "cct5",
        "symbol": "CCT5",
        "hgnc": "HGNC:1618",
        "name": "chaperonin containing TCP1 subunit 5",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cct5"
      },
      {
        "slug": "chp1",
        "symbol": "CHP1",
        "hgnc": "HGNC:17433",
        "name": "calcineurin like EF-hand protein 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chp1"
      },
      {
        "slug": "coa7",
        "symbol": "COA7",
        "hgnc": "HGNC:25716",
        "name": "cytochrome c oxidase assembly factor 7",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/coa7"
      },
      {
        "slug": "dars2",
        "symbol": "DARS2",
        "hgnc": "HGNC:25538",
        "name": "aspartyl-tRNA synthetase 2, mitochondrial",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dars2"
      },
      {
        "slug": "dnm2",
        "symbol": "DNM2",
        "hgnc": "HGNC:2974",
        "name": "dynamin 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnm2"
      },
      {
        "slug": "gars1",
        "symbol": "GARS1",
        "hgnc": "HGNC:4162",
        "name": "glycyl-tRNA synthetase 1",
        "frequency": "obligate",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/gars1"
      },
      {
        "slug": "gbf1",
        "symbol": "GBF1",
        "hgnc": "HGNC:4181",
        "name": "golgi brefeldin A resistant guanine nucleotide exchange factor 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gbf1"
      },
      {
        "slug": "kif1b",
        "symbol": "KIF1B",
        "hgnc": "HGNC:16636",
        "name": "kinesin family member 1B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif1b"
      },
      {
        "slug": "lrp12",
        "symbol": "LRP12",
        "hgnc": "HGNC:31708",
        "name": "LDL receptor related protein 12",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/lrp12"
      },
      {
        "slug": "mars1",
        "symbol": "MARS1",
        "hgnc": "HGNC:6898",
        "name": "methionyl-tRNA synthetase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mars1"
      },
      {
        "slug": "mfn2",
        "symbol": "MFN2",
        "hgnc": "HGNC:16877",
        "name": "mitofusin 2",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mfn2"
      },
      {
        "slug": "mpz",
        "symbol": "MPZ",
        "hgnc": "HGNC:7225",
        "name": "myelin protein zero",
        "frequency": "obligate",
        "diseases": 8,
        "url": "https://dantelabs.com/genes/mpz"
      },
      {
        "slug": "mtmr2",
        "symbol": "MTMR2",
        "hgnc": "HGNC:7450",
        "name": "myotubularin related protein 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mtmr2"
      },
      {
        "slug": "myh14",
        "symbol": "MYH14",
        "hgnc": "HGNC:23212",
        "name": "myosin heavy chain 14",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myh14"
      },
      {
        "slug": "ndc1",
        "symbol": "NDC1",
        "hgnc": "HGNC:25525",
        "name": "NDC1 transmembrane nucleoporin",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndc1"
      },
      {
        "slug": "nefl",
        "symbol": "NEFL",
        "hgnc": "HGNC:7739",
        "name": "neurofilament light chain",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/nefl"
      },
      {
        "slug": "phka1",
        "symbol": "PHKA1",
        "hgnc": "HGNC:8925",
        "name": "phosphorylase kinase regulatory subunit alpha 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phka1"
      },
      {
        "slug": "pik3r5",
        "symbol": "PIK3R5",
        "hgnc": "HGNC:30035",
        "name": "phosphoinositide-3-kinase regulatory subunit 5",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pik3r5"
      },
      {
        "slug": "plekhg5",
        "symbol": "PLEKHG5",
        "hgnc": "HGNC:29105",
        "name": "pleckstrin homology and RhoGEF domain containing G5",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/plekhg5"
      },
      {
        "slug": "pmp2",
        "symbol": "PMP2",
        "hgnc": "HGNC:9117",
        "name": "peripheral myelin protein 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pmp2"
      },
      {
        "slug": "pmp22",
        "symbol": "PMP22",
        "hgnc": "HGNC:9118",
        "name": "peripheral myelin protein 22",
        "frequency": "obligate",
        "diseases": 6,
        "url": "https://dantelabs.com/genes/pmp22"
      },
      {
        "slug": "sco2",
        "symbol": "SCO2",
        "hgnc": "HGNC:10604",
        "name": "synthesis of cytochrome C oxidase 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sco2"
      },
      {
        "slug": "setx",
        "symbol": "SETX",
        "hgnc": "HGNC:445",
        "name": "senataxin",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/setx"
      },
      {
        "slug": "sigmar1",
        "symbol": "SIGMAR1",
        "hgnc": "HGNC:8157",
        "name": "sigma receptor chaperone 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/sigmar1"
      },
      {
        "slug": "slc25a21",
        "symbol": "SLC25A21",
        "hgnc": "HGNC:14411",
        "name": "solute carrier family 25 member 21",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc25a21"
      },
      {
        "slug": "spart",
        "symbol": "SPART",
        "hgnc": "HGNC:18514",
        "name": "spartin",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/spart"
      },
      {
        "slug": "spg11",
        "symbol": "SPG11",
        "hgnc": "HGNC:11226",
        "name": "SPG11 vesicle trafficking associated, spatacsin",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/spg11"
      },
      {
        "slug": "tbce",
        "symbol": "TBCE",
        "hgnc": "HGNC:11582",
        "name": "tubulin folding cofactor E",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tbce"
      },
      {
        "slug": "tbck",
        "symbol": "TBCK",
        "hgnc": "HGNC:28261",
        "name": "TBC1 domain containing kinase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbck"
      },
      {
        "slug": "tdp1",
        "symbol": "TDP1",
        "hgnc": "HGNC:18884",
        "name": "tyrosyl-DNA phosphodiesterase 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tdp1"
      },
      {
        "slug": "yars1",
        "symbol": "YARS1",
        "hgnc": "HGNC:12840",
        "name": "tyrosyl-tRNA synthetase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/yars1"
      },
      {
        "slug": "als2",
        "symbol": "ALS2",
        "hgnc": "HGNC:443",
        "name": "alsin Rho guanine nucleotide exchange factor ALS2",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/als2"
      },
      {
        "slug": "atp13a2",
        "symbol": "ATP13A2",
        "hgnc": "HGNC:30213",
        "name": "ATPase cation transporting 13A2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp13a2"
      },
      {
        "slug": "erlin1",
        "symbol": "ERLIN1",
        "hgnc": "HGNC:16947",
        "name": "ER lipid raft associated 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/erlin1"
      },
      {
        "slug": "fbln5",
        "symbol": "FBLN5",
        "hgnc": "HGNC:3602",
        "name": "fibulin 5",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbln5"
      },
      {
        "slug": "flrt1",
        "symbol": "FLRT1",
        "hgnc": "HGNC:3760",
        "name": "fibronectin leucine rich transmembrane protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flrt1"
      },
      {
        "slug": "fus",
        "symbol": "FUS",
        "hgnc": "HGNC:4010",
        "name": "FUS RNA binding protein",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fus"
      },
      {
        "slug": "gdap1",
        "symbol": "GDAP1",
        "hgnc": "HGNC:15968",
        "name": "ganglioside induced differentiation associated protein 1",
        "frequency": "very-frequent",
        "diseases": 5,
        "url": "https://dantelabs.com/genes/gdap1"
      },
      {
        "slug": "gne",
        "symbol": "GNE",
        "hgnc": "HGNC:23657",
        "name": "glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/gne"
      },
      {
        "slug": "kif1a",
        "symbol": "KIF1A",
        "hgnc": "HGNC:888",
        "name": "kinesin family member 1A",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/kif1a"
      },
      {
        "slug": "klc2",
        "symbol": "KLC2",
        "hgnc": "HGNC:20716",
        "name": "kinesin light chain 2",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/klc2"
      },
      {
        "slug": "ptrh2",
        "symbol": "PTRH2",
        "hgnc": "HGNC:24265",
        "name": "peptidyl-tRNA hydrolase 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptrh2"
      },
      {
        "slug": "sh3tc2",
        "symbol": "SH3TC2",
        "hgnc": "HGNC:29427",
        "name": "SH3 domain and tetratricopeptide repeats 2",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/sh3tc2"
      },
      {
        "slug": "sord",
        "symbol": "SORD",
        "hgnc": "HGNC:11184",
        "name": "sorbitol dehydrogenase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sord"
      },
      {
        "slug": "sptbn4",
        "symbol": "SPTBN4",
        "hgnc": "HGNC:14896",
        "name": "spectrin beta, non-erythrocytic 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptbn4"
      },
      {
        "slug": "sptlc1",
        "symbol": "SPTLC1",
        "hgnc": "HGNC:11277",
        "name": "serine palmitoyltransferase long chain base subunit 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/sptlc1"
      },
      {
        "slug": "sptlc2",
        "symbol": "SPTLC2",
        "hgnc": "HGNC:11278",
        "name": "serine palmitoyltransferase long chain base subunit 2",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/sptlc2"
      },
      {
        "slug": "syne1",
        "symbol": "SYNE1",
        "hgnc": "HGNC:17089",
        "name": "spectrin repeat containing nuclear envelope protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/syne1"
      },
      {
        "slug": "tardbp",
        "symbol": "TARDBP",
        "hgnc": "HGNC:11571",
        "name": "TAR DNA binding protein",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tardbp"
      },
      {
        "slug": "trmt2b",
        "symbol": "TRMT2B",
        "hgnc": "HGNC:25748",
        "name": "tRNA methyltransferase 2B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trmt2b"
      },
      {
        "slug": "trpv4",
        "symbol": "TRPV4",
        "hgnc": "HGNC:18083",
        "name": "transient receptor potential cation channel subfamily V member 4",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/trpv4"
      },
      {
        "slug": "ubqln2",
        "symbol": "UBQLN2",
        "hgnc": "HGNC:12509",
        "name": "ubiquilin 2",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ubqln2"
      },
      {
        "slug": "zbtb20",
        "symbol": "ZBTB20",
        "hgnc": "HGNC:13503",
        "name": "zinc finger and BTB domain containing 20",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zbtb20"
      },
      {
        "slug": "zc4h2",
        "symbol": "ZC4H2",
        "hgnc": "HGNC:24931",
        "name": "zinc finger C4H2-type containing",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/zc4h2"
      },
      {
        "slug": "ang",
        "symbol": "ANG",
        "hgnc": "HGNC:483",
        "name": "angiogenin",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ang"
      },
      {
        "slug": "anxa11",
        "symbol": "ANXA11",
        "hgnc": "HGNC:535",
        "name": "annexin A11",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/anxa11"
      },
      {
        "slug": "atxn2",
        "symbol": "ATXN2",
        "hgnc": "HGNC:10555",
        "name": "ataxin 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/atxn2"
      },
      {
        "slug": "c19orf12",
        "symbol": "C19orf12",
        "hgnc": "HGNC:25443",
        "name": "chromosome 19 open reading frame 12",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/c19orf12"
      },
      {
        "slug": "cadm3",
        "symbol": "CADM3",
        "hgnc": "HGNC:17601",
        "name": "cell adhesion molecule 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cadm3"
      },
      {
        "slug": "ccnf",
        "symbol": "CCNF",
        "hgnc": "HGNC:1591",
        "name": "cyclin F",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ccnf"
      },
      {
        "slug": "cfap410",
        "symbol": "CFAP410",
        "hgnc": "HGNC:1260",
        "name": "cilia and flagella associated protein 410",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cfap410"
      },
      {
        "slug": "chchd10",
        "symbol": "CHCHD10",
        "hgnc": "HGNC:15559",
        "name": "coiled-coil-helix-coiled-coil-helix domain containing 10",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chchd10"
      },
      {
        "slug": "chmp2b",
        "symbol": "CHMP2B",
        "hgnc": "HGNC:24537",
        "name": "charged multivesicular body protein 2B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chmp2b"
      },
      {
        "slug": "coasy",
        "symbol": "COASY",
        "hgnc": "HGNC:29932",
        "name": "Coenzyme A synthase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/coasy"
      },
      {
        "slug": "cyp27a1",
        "symbol": "CYP27A1",
        "hgnc": "HGNC:2605",
        "name": "cytochrome P450 family 27 subfamily A member 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyp27a1"
      },
      {
        "slug": "dao",
        "symbol": "DAO",
        "hgnc": "HGNC:2671",
        "name": "D-amino acid oxidase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dao"
      },
      {
        "slug": "dctn1",
        "symbol": "DCTN1",
        "hgnc": "HGNC:2711",
        "name": "dynactin subunit 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/dctn1"
      },
      {
        "slug": "erbb4",
        "symbol": "ERBB4",
        "hgnc": "HGNC:3432",
        "name": "erb-b2 receptor tyrosine kinase 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/erbb4"
      },
      {
        "slug": "fig4",
        "symbol": "FIG4",
        "hgnc": "HGNC:16873",
        "name": "FIG4 phosphoinositide 5-phosphatase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fig4"
      },
      {
        "slug": "gle1",
        "symbol": "GLE1",
        "hgnc": "HGNC:4315",
        "name": "GLE1 RNA export mediator",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gle1"
      },
      {
        "slug": "glt8d1",
        "symbol": "GLT8D1",
        "hgnc": "HGNC:24870",
        "name": "glycosyltransferase 8 domain containing 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/glt8d1"
      },
      {
        "slug": "hk1",
        "symbol": "HK1",
        "hgnc": "HGNC:4922",
        "name": "hexokinase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hk1"
      },
      {
        "slug": "hnrnpa1",
        "symbol": "HNRNPA1",
        "hgnc": "HGNC:5031",
        "name": "heterogeneous nuclear ribonucleoprotein A1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hnrnpa1"
      },
      {
        "slug": "iba57",
        "symbol": "IBA57",
        "hgnc": "HGNC:27302",
        "name": "iron-sulfur cluster assembly factor IBA57",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/iba57"
      },
      {
        "slug": "kif1c",
        "symbol": "KIF1C",
        "hgnc": "HGNC:6317",
        "name": "kinesin family member 1C",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/kif1c"
      },
      {
        "slug": "lmna",
        "symbol": "LMNA",
        "hgnc": "HGNC:6636",
        "name": "lamin A/C",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/lmna"
      },
      {
        "slug": "matr3",
        "symbol": "MATR3",
        "hgnc": "HGNC:6912",
        "name": "matrin 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/matr3"
      },
      {
        "slug": "mme",
        "symbol": "MME",
        "hgnc": "HGNC:7154",
        "name": "membrane metalloendopeptidase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mme"
      },
      {
        "slug": "morc2",
        "symbol": "MORC2",
        "hgnc": "HGNC:23573",
        "name": "MORC family CW-type zinc finger 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/morc2"
      },
      {
        "slug": "mtrfr",
        "symbol": "MTRFR",
        "hgnc": "HGNC:26784",
        "name": "mitochondrial translation release factor in rescue",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mtrfr"
      },
      {
        "slug": "myot",
        "symbol": "MYOT",
        "hgnc": "HGNC:12399",
        "name": "myotilin",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/myot"
      },
      {
        "slug": "ndrg1",
        "symbol": "NDRG1",
        "hgnc": "HGNC:7679",
        "name": "N-myc downstream regulated 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndrg1"
      },
      {
        "slug": "nefh",
        "symbol": "NEFH",
        "hgnc": "HGNC:7737",
        "name": "neurofilament heavy chain",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nefh"
      },
      {
        "slug": "nek1",
        "symbol": "NEK1",
        "hgnc": "HGNC:7744",
        "name": "NIMA related kinase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nek1"
      },
      {
        "slug": "nemf",
        "symbol": "NEMF",
        "hgnc": "HGNC:10663",
        "name": "nuclear export mediator factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nemf"
      },
      {
        "slug": "notch2nlc",
        "symbol": "NOTCH2NLC",
        "hgnc": "HGNC:53924",
        "name": "notch 2 N-terminal like C",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch2nlc"
      },
      {
        "slug": "optn",
        "symbol": "OPTN",
        "hgnc": "HGNC:17142",
        "name": "optineurin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/optn"
      },
      {
        "slug": "pex10",
        "symbol": "PEX10",
        "hgnc": "HGNC:8851",
        "name": "peroxisomal biogenesis factor 10",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex10"
      },
      {
        "slug": "pfn1",
        "symbol": "PFN1",
        "hgnc": "HGNC:8881",
        "name": "profilin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pfn1"
      },
      {
        "slug": "pnpla6",
        "symbol": "PNPLA6",
        "hgnc": "HGNC:16268",
        "name": "patatin like domain 6, lysophospholipase",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/pnpla6"
      },
      {
        "slug": "pomgnt2",
        "symbol": "POMGNT2",
        "hgnc": "HGNC:25902",
        "name": "protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomgnt2"
      },
      {
        "slug": "prph",
        "symbol": "PRPH",
        "hgnc": "HGNC:9461",
        "name": "peripherin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prph"
      },
      {
        "slug": "rai1",
        "symbol": "RAI1",
        "hgnc": "HGNC:9834",
        "name": "retinoic acid induced 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rai1"
      },
      {
        "slug": "reep1",
        "symbol": "REEP1",
        "hgnc": "HGNC:25786",
        "name": "receptor accessory protein 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/reep1"
      },
      {
        "slug": "sbf2",
        "symbol": "SBF2",
        "hgnc": "HGNC:2135",
        "name": "SET binding factor 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sbf2"
      },
      {
        "slug": "sdha",
        "symbol": "SDHA",
        "hgnc": "HGNC:10680",
        "name": "succinate dehydrogenase complex flavoprotein subunit A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sdha"
      },
      {
        "slug": "sdhaf1",
        "symbol": "SDHAF1",
        "hgnc": "HGNC:33867",
        "name": "succinate dehydrogenase complex assembly factor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sdhaf1"
      },
      {
        "slug": "sdhb",
        "symbol": "SDHB",
        "hgnc": "HGNC:10681",
        "name": "succinate dehydrogenase complex iron sulfur subunit B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sdhb"
      },
      {
        "slug": "sdhd",
        "symbol": "SDHD",
        "hgnc": "HGNC:10683",
        "name": "succinate dehydrogenase complex subunit D",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sdhd"
      },
      {
        "slug": "smn1",
        "symbol": "SMN1",
        "hgnc": "HGNC:11117",
        "name": "survival of motor neuron 1, telomeric",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smn1"
      },
      {
        "slug": "smn2",
        "symbol": "SMN2",
        "hgnc": "HGNC:11118",
        "name": "survival of motor neuron 2, centromeric",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smn2"
      },
      {
        "slug": "sod1",
        "symbol": "SOD1",
        "hgnc": "HGNC:11179",
        "name": "superoxide dismutase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sod1"
      },
      {
        "slug": "sqstm1",
        "symbol": "SQSTM1",
        "hgnc": "HGNC:11280",
        "name": "sequestosome 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sqstm1"
      },
      {
        "slug": "syt2",
        "symbol": "SYT2",
        "hgnc": "HGNC:11510",
        "name": "synaptotagmin 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/syt2"
      },
      {
        "slug": "taf15",
        "symbol": "TAF15",
        "hgnc": "HGNC:11547",
        "name": "TATA-box binding protein associated factor 15",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/taf15"
      },
      {
        "slug": "tbk1",
        "symbol": "TBK1",
        "hgnc": "HGNC:11584",
        "name": "TANK binding kinase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbk1"
      },
      {
        "slug": "trem2",
        "symbol": "TREM2",
        "hgnc": "HGNC:17761",
        "name": "triggering receptor expressed on myeloid cells 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trem2"
      },
      {
        "slug": "twnk",
        "symbol": "TWNK",
        "hgnc": "HGNC:1160",
        "name": "twinkle mtDNA helicase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/twnk"
      },
      {
        "slug": "unc13a",
        "symbol": "UNC13A",
        "hgnc": "HGNC:23150",
        "name": "unc-13 homolog A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/unc13a"
      },
      {
        "slug": "vapb",
        "symbol": "VAPB",
        "hgnc": "HGNC:12649",
        "name": "VAMP associated protein B and C",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/vapb"
      },
      {
        "slug": "vcp",
        "symbol": "VCP",
        "hgnc": "HGNC:12666",
        "name": "valosin containing protein",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/vcp"
      },
      {
        "slug": "vps13a",
        "symbol": "VPS13A",
        "hgnc": "HGNC:1908",
        "name": "vacuolar protein sorting 13 homolog A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps13a"
      },
      {
        "slug": "vrk1",
        "symbol": "VRK1",
        "hgnc": "HGNC:12718",
        "name": "VRK serine/threonine kinase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vrk1"
      },
      {
        "slug": "ano5",
        "symbol": "ANO5",
        "hgnc": "HGNC:27337",
        "name": "anoctamin 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ano5"
      },
      {
        "slug": "atad3a",
        "symbol": "ATAD3A",
        "hgnc": "HGNC:25567",
        "name": "ATPase family AAA domain containing 3A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atad3a"
      },
      {
        "slug": "atl1",
        "symbol": "ATL1",
        "hgnc": "HGNC:11231",
        "name": "atlastin GTPase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atl1"
      },
      {
        "slug": "atl3",
        "symbol": "ATL3",
        "hgnc": "HGNC:24526",
        "name": "atlastin GTPase 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atl3"
      },
      {
        "slug": "gba2",
        "symbol": "GBA2",
        "hgnc": "HGNC:18986",
        "name": "glucosylceramidase beta 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gba2"
      },
      {
        "slug": "sacs",
        "symbol": "SACS",
        "hgnc": "HGNC:10519",
        "name": "sacsin molecular chaperone",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/sacs"
      },
      {
        "slug": "slc25a46",
        "symbol": "SLC25A46",
        "hgnc": "HGNC:25198",
        "name": "solute carrier family 25 member 46",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc25a46"
      },
      {
        "slug": "spast",
        "symbol": "SPAST",
        "hgnc": "HGNC:11233",
        "name": "spastin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spast"
      },
      {
        "slug": "stub1",
        "symbol": "STUB1",
        "hgnc": "HGNC:11427",
        "name": "STIP1 homology and U-box containing protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stub1"
      },
      {
        "slug": "zfyve26",
        "symbol": "ZFYVE26",
        "hgnc": "HGNC:20761",
        "name": "zinc finger FYVE-type containing 26",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/zfyve26"
      },
      {
        "slug": "abca1",
        "symbol": "ABCA1",
        "hgnc": "HGNC:29",
        "name": "ATP binding cassette subfamily A member 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abca1"
      },
      {
        "slug": "abhd12",
        "symbol": "ABHD12",
        "hgnc": "HGNC:15868",
        "name": "abhydrolase domain containing 12, lysophospholipase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abhd12"
      },
      {
        "slug": "actn2",
        "symbol": "ACTN2",
        "hgnc": "HGNC:164",
        "name": "actinin alpha 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/actn2"
      },
      {
        "slug": "agl",
        "symbol": "AGL",
        "hgnc": "HGNC:321",
        "name": "amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/agl"
      },
      {
        "slug": "atp1a1",
        "symbol": "ATP1A1",
        "hgnc": "HGNC:799",
        "name": "ATPase Na+/K+ transporting subunit alpha 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp1a1"
      },
      {
        "slug": "atp7a",
        "symbol": "ATP7A",
        "hgnc": "HGNC:869",
        "name": "ATPase copper transporting alpha",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp7a"
      },
      {
        "slug": "atxn1",
        "symbol": "ATXN1",
        "hgnc": "HGNC:10548",
        "name": "ataxin 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atxn1"
      },
      {
        "slug": "atxn3",
        "symbol": "ATXN3",
        "hgnc": "HGNC:7106",
        "name": "ataxin 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atxn3"
      },
      {
        "slug": "dcaf8",
        "symbol": "DCAF8",
        "hgnc": "HGNC:24891",
        "name": "DDB1 and CUL4 associated factor 8",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dcaf8"
      },
      {
        "slug": "dok7",
        "symbol": "DOK7",
        "hgnc": "HGNC:26594",
        "name": "docking protein 7",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dok7"
      },
      {
        "slug": "dysf",
        "symbol": "DYSF",
        "hgnc": "HGNC:3097",
        "name": "dysferlin",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dysf"
      },
      {
        "slug": "egr2",
        "symbol": "EGR2",
        "hgnc": "HGNC:3239",
        "name": "early growth response 2",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/egr2"
      },
      {
        "slug": "gan",
        "symbol": "GAN",
        "hgnc": "HGNC:4137",
        "name": "gigaxonin",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gan"
      },
      {
        "slug": "hars1",
        "symbol": "HARS1",
        "hgnc": "HGNC:4816",
        "name": "histidyl-tRNA synthetase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hars1"
      },
      {
        "slug": "hspb8",
        "symbol": "HSPB8",
        "hgnc": "HGNC:30171",
        "name": "heat shock protein family B (small) member 8",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hspb8"
      },
      {
        "slug": "ighmbp2",
        "symbol": "IGHMBP2",
        "hgnc": "HGNC:5542",
        "name": "immunoglobulin mu DNA binding protein 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ighmbp2"
      },
      {
        "slug": "jph1",
        "symbol": "JPH1",
        "hgnc": "HGNC:14201",
        "name": "junctophilin 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jph1"
      },
      {
        "slug": "litaf",
        "symbol": "LITAF",
        "hgnc": "HGNC:16841",
        "name": "lipopolysaccharide induced TNF factor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/litaf"
      },
      {
        "slug": "lrsam1",
        "symbol": "LRSAM1",
        "hgnc": "HGNC:25135",
        "name": "leucine rich repeat and sterile alpha motif containing 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrsam1"
      },
      {
        "slug": "med25",
        "symbol": "MED25",
        "hgnc": "HGNC:28845",
        "name": "mediator complex subunit 25",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/med25"
      },
      {
        "slug": "mpv17",
        "symbol": "MPV17",
        "hgnc": "HGNC:7224",
        "name": "mitochondrial inner membrane protein MPV17",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mpv17"
      },
      {
        "slug": "mre11",
        "symbol": "MRE11",
        "hgnc": "HGNC:7230",
        "name": "MRE11 double strand break repair nuclease",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mre11"
      },
      {
        "slug": "msto1",
        "symbol": "MSTO1",
        "hgnc": "HGNC:29678",
        "name": "misato mitochondrial distribution and morphology regulator 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/msto1"
      },
      {
        "slug": "ndufa9",
        "symbol": "NDUFA9",
        "hgnc": "HGNC:7693",
        "name": "NADH:ubiquinone oxidoreductase subunit A9",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufa9"
      },
      {
        "slug": "pnkp",
        "symbol": "PNKP",
        "hgnc": "HGNC:9154",
        "name": "polynucleotide kinase 3'-phosphatase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pnkp"
      },
      {
        "slug": "polg",
        "symbol": "POLG",
        "hgnc": "HGNC:9179",
        "name": "DNA polymerase gamma, catalytic subunit",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polg"
      },
      {
        "slug": "prps1",
        "symbol": "PRPS1",
        "hgnc": "HGNC:9462",
        "name": "phosphoribosyl pyrophosphate synthetase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prps1"
      },
      {
        "slug": "prx",
        "symbol": "PRX",
        "hgnc": "HGNC:13797",
        "name": "periaxin",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/prx"
      },
      {
        "slug": "rab7a",
        "symbol": "RAB7A",
        "hgnc": "HGNC:9788",
        "name": "RAB7A, member RAS oncogene family",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rab7a"
      },
      {
        "slug": "slc5a7",
        "symbol": "SLC5A7",
        "hgnc": "HGNC:14025",
        "name": "solute carrier family 5 member 7",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc5a7"
      },
      {
        "slug": "sox10",
        "symbol": "SOX10",
        "hgnc": "HGNC:11190",
        "name": "SRY-box transcription factor 10",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sox10"
      },
      {
        "slug": "tia1",
        "symbol": "TIA1",
        "hgnc": "HGNC:11802",
        "name": "TIA1 cytotoxic granule associated RNA binding protein",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tia1"
      },
      {
        "slug": "tymp",
        "symbol": "TYMP",
        "hgnc": "HGNC:3148",
        "name": "thymidine phosphorylase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tymp"
      },
      {
        "slug": "vps13d",
        "symbol": "VPS13D",
        "hgnc": "HGNC:23595",
        "name": "vacuolar protein sorting 13 homolog D",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps13d"
      }
    ]
  }
}