{ "url": "https://dantelabs.com/traits/hypertonia", "trait": { "bundleId": "2026.10.18-e609d43e", "release": "2026-09-01", "slug": "hypertonia", "id": "HP:0001276", "name": "Spasticity and rigidity of muscles", "label": "Hypertonia", "definition": "A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.", "synonyms": [ "Hypertonicity", "Increased muscle tone" ], "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": "abnormal-muscle-tone", "name": "Abnormal muscle tone", "url": "https://dantelabs.com/traits/abnormal-muscle-tone" } ], "narrower": [ { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "genes": 710, "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "rigidity", "name": "Rigidity", "genes": 211, "url": "https://dantelabs.com/traits/rigidity" }, { "slug": "limb-hypertonia", "name": "Increased muscle tone of arm or leg", "genes": 143, "url": "https://dantelabs.com/traits/limb-hypertonia" }, { "slug": "neck-hypertonia", "name": "Neck hypertonia", "genes": 1, "url": "https://dantelabs.com/traits/neck-hypertonia" } ], "genes": [ { "slug": "adgrg1", "symbol": "ADGRG1", "hgnc": "HGNC:4512", "name": "adhesion G protein-coupled receptor G1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/adgrg1" }, { "slug": "ampd2", "symbol": "AMPD2", "hgnc": "HGNC:469", "name": "adenosine monophosphate deaminase 2", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/ampd2" }, { "slug": "ap4b1", "symbol": "AP4B1", "hgnc": "HGNC:572", "name": "adaptor related protein complex 4 subunit beta 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ap4b1" }, { "slug": "ap4s1", "symbol": "AP4S1", "hgnc": "HGNC:575", "name": "adaptor related protein complex 4 subunit sigma 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ap4s1" }, { "slug": "arhgef9", "symbol": "ARHGEF9", "hgnc": "HGNC:14561", "name": "Cdc42 guanine nucleotide exchange factor 9", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/arhgef9" }, { "slug": "arl13b", "symbol": "ARL13B", "hgnc": "HGNC:25419", "name": "ARF like GTPase 13B", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/arl13b" }, { "slug": "arx", "symbol": "ARX", "hgnc": "HGNC:18060", "name": "aristaless related homeobox", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/arx" }, { "slug": "asns", "symbol": "ASNS", "hgnc": "HGNC:753", "name": "asparagine synthetase (glutamine-hydrolyzing)", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/asns" }, { "slug": "atad1", "symbol": "ATAD1", "hgnc": "HGNC:25903", "name": "ATPase family AAA domain containing 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/atad1" }, { "slug": "atp13a2", "symbol": "ATP13A2", "hgnc": "HGNC:30213", "name": "ATPase cation transporting 13A2", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/atp13a2" }, { "slug": "atpaf2", "symbol": "ATPAF2", "hgnc": "HGNC:18802", "name": "ATP synthase mitochondrial F1 complex assembly factor 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/atpaf2" }, { "slug": "cdk19", "symbol": "CDK19", "hgnc": "HGNC:19338", "name": "cyclin dependent kinase 19", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/cdk19" }, { "slug": "chka", "symbol": "CHKA", "hgnc": "HGNC:1937", "name": "choline kinase alpha", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/chka" }, { "slug": "coq4", "symbol": "COQ4", "hgnc": "HGNC:19693", "name": "coenzyme Q4", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/coq4" }, { "slug": "coq9", "symbol": "COQ9", "hgnc": "HGNC:25302", "name": "coenzyme Q9", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/coq9" }, { "slug": "cox18", "symbol": "COX18", "hgnc": "HGNC:26801", "name": "cytochrome c oxidase assembly factor COX18", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/cox18" }, { "slug": "crnkl1", "symbol": "CRNKL1", "hgnc": "HGNC:15762", "name": "crooked neck pre-mRNA splicing factor 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/crnkl1" }, { "slug": "ctcf", "symbol": "CTCF", "hgnc": "HGNC:13723", "name": "CCCTC-binding factor", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ctcf" }, { "slug": "cyb5r3", "symbol": "CYB5R3", "hgnc": "HGNC:2873", "name": "cytochrome b5 reductase 3", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/cyb5r3" }, { "slug": "dnm1l", "symbol": "DNM1L", "hgnc": "HGNC:2973", "name": "dynamin 1L", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/dnm1l" }, { "slug": "eif4a2", "symbol": "EIF4A2", "hgnc": "HGNC:3284", "name": "eukaryotic translation initiation factor 4A2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/eif4a2" }, { "slug": "ercc1", "symbol": "ERCC1", "hgnc": "HGNC:3433", "name": "ERCC excision repair 1, endonuclease non-catalytic subunit", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/ercc1" }, { "slug": "fdxr", "symbol": "FDXR", "hgnc": "HGNC:3642", "name": "ferredoxin reductase", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/fdxr" }, { "slug": "fem1b", "symbol": "FEM1B", "hgnc": "HGNC:3649", "name": "fem-1 homolog B", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/fem1b" }, { "slug": "fto", "symbol": "FTO", "hgnc": "HGNC:24678", "name": "FTO alpha-ketoglutarate dependent dioxygenase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/fto" }, { "slug": "gcsh", "symbol": "GCSH", "hgnc": "HGNC:4208", "name": "glycine cleavage system protein H", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/gcsh" }, { "slug": "gfm1", "symbol": "GFM1", "hgnc": "HGNC:13780", "name": "G elongation factor mitochondrial 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/gfm1" }, { "slug": "gli2", "symbol": "GLI2", "hgnc": "HGNC:4318", "name": "GLI family zinc finger 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/gli2" }, { "slug": "glrb", "symbol": "GLRB", "hgnc": "HGNC:4329", "name": "glycine receptor beta", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/glrb" }, { "slug": "gnptab", "symbol": "GNPTAB", "hgnc": "HGNC:29670", "name": "N-acetylglucosamine-1-phosphate transferase subunits alpha and beta", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/gnptab" }, { "slug": "gphn", "symbol": "GPHN", "hgnc": "HGNC:15465", "name": "gephyrin", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/gphn" }, { "slug": "gria3", "symbol": "GRIA3", "hgnc": "HGNC:4573", "name": "glutamate ionotropic receptor AMPA type subunit 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/gria3" }, { "slug": "gtf2h5", "symbol": "GTF2H5", "hgnc": "HGNC:21157", "name": "general transcription factor IIH subunit 5", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/gtf2h5" }, { "slug": "ireb2", "symbol": "IREB2", "hgnc": "HGNC:6115", "name": "iron responsive element binding protein 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ireb2" }, { "slug": "itpr1", "symbol": "ITPR1", "hgnc": "HGNC:6180", "name": "inositol 1,4,5-trisphosphate receptor type 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/itpr1" }, { "slug": "kdm2b", "symbol": "KDM2B", "hgnc": "HGNC:13610", "name": "lysine demethylase 2B", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/kdm2b" }, { "slug": "kdm6b", "symbol": "KDM6B", "hgnc": "HGNC:29012", "name": "lysine demethylase 6B", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/kdm6b" }, { "slug": "kif5c", "symbol": "KIF5C", "hgnc": "HGNC:6325", "name": "kinesin family member 5C", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/kif5c" }, { "slug": "mboat7", "symbol": "MBOAT7", "hgnc": "HGNC:15505", "name": "membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/mboat7" }, { "slug": "med17", "symbol": "MED17", "hgnc": "HGNC:2375", "name": "mediator complex subunit 17", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/med17" }, { "slug": "mocs3", "symbol": "MOCS3", "hgnc": "HGNC:15765", "name": "molybdenum cofactor synthesis 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/mocs3" }, { "slug": "nfasc", "symbol": "NFASC", "hgnc": "HGNC:29866", "name": "neurofascin", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nfasc" }, { "slug": "nipbl", "symbol": "NIPBL", "hgnc": "HGNC:28862", "name": "NIPBL cohesin loading factor", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/nipbl" }, { "slug": "opa1", "symbol": "OPA1", "hgnc": "HGNC:8140", "name": "OPA1 mitochondrial dynamin like GTPase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/opa1" }, { "slug": "pex11b", "symbol": "PEX11B", "hgnc": "HGNC:8853", "name": "peroxisomal biogenesis factor 11 beta", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pex11b" }, { "slug": "pi4ka", "symbol": "PI4KA", "hgnc": "HGNC:8983", "name": "phosphatidylinositol 4-kinase alpha", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pi4ka" }, { "slug": "plaa", "symbol": "PLAA", "hgnc": "HGNC:9043", "name": "phospholipase A2 activating protein", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/plaa" }, { "slug": "polr1a", "symbol": "POLR1A", "hgnc": "HGNC:17264", "name": "RNA polymerase I subunit A", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/polr1a" }, { "slug": "psap", "symbol": "PSAP", "hgnc": "HGNC:9498", "name": "prosaposin", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/psap" }, { "slug": "ptpn23", "symbol": "PTPN23", "hgnc": "HGNC:14406", "name": "protein tyrosine phosphatase non-receptor type 23", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ptpn23" }, { "slug": "rnf13", "symbol": "RNF13", "hgnc": "HGNC:10057", "name": "ring finger protein 13", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/rnf13" }, { "slug": "rnu2-2", "symbol": "RNU2-2", "hgnc": "HGNC:10152", "name": "RNA, U2 small nuclear 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rnu2-2" }, { "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": "sec31a", "symbol": "SEC31A", "hgnc": "HGNC:17052", "name": "SEC31 homolog A, COPII component", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/sec31a" }, { "slug": "sgsm3", "symbol": "SGSM3", "hgnc": "HGNC:25228", "name": "small G protein signaling modulator 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/sgsm3" }, { "slug": "slc2a1", "symbol": "SLC2A1", "hgnc": "HGNC:11005", "name": "solute carrier family 2 member 1", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/slc2a1" }, { "slug": "slc6a3", "symbol": "SLC6A3", "hgnc": "HGNC:11049", "name": "solute carrier family 6 member 3", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/slc6a3" }, { "slug": "smad4", "symbol": "SMAD4", "hgnc": "HGNC:6770", "name": "SMAD family member 4", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/smad4" }, { "slug": "smc1a", "symbol": "SMC1A", "hgnc": "HGNC:11111", "name": "structural maintenance of chromosomes 1A", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/smc1a" }, { "slug": "sod1", "symbol": "SOD1", "hgnc": "HGNC:11179", "name": "superoxide dismutase 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/sod1" }, { "slug": "spg21", "symbol": "SPG21", "hgnc": "HGNC:20373", "name": "SPG21 abhydrolase domain containing, maspardin", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/spg21" }, { "slug": "supt7l", "symbol": "SUPT7L", "hgnc": "HGNC:30632", "name": "SPT7 like, STAGA complex subunit gamma", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/supt7l" }, { "slug": "tmx2", "symbol": "TMX2", "hgnc": "HGNC:30739", "name": "thioredoxin related transmembrane protein 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/tmx2" }, { "slug": "tor1a", "symbol": "TOR1A", "hgnc": "HGNC:3098", "name": "torsin family 1 member A", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/tor1a" }, { "slug": "tsen54", "symbol": "TSEN54", "hgnc": "HGNC:27561", "name": "tRNA splicing endonuclease subunit 54", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/tsen54" }, { "slug": "vac14", "symbol": "VAC14", "hgnc": "HGNC:25507", "name": "VAC14 component of PIKFYVE complex", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/vac14" }, { "slug": "vars2", "symbol": "VARS2", "hgnc": "HGNC:21642", "name": "valyl-tRNA synthetase 2, mitochondrial", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/vars2" }, { "slug": "vps53", "symbol": "VPS53", "hgnc": "HGNC:25608", "name": "VPS53 subunit of GARP complex", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/vps53" }, { "slug": "wars2", "symbol": "WARS2", "hgnc": "HGNC:12730", "name": "tryptophanyl tRNA synthetase 2, mitochondrial", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/wars2" }, { "slug": "wdr4", "symbol": "WDR4", "hgnc": "HGNC:12756", "name": "WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/wdr4" }, { "slug": "adar", "symbol": "ADAR", "hgnc": "HGNC:225", "name": "adenosine deaminase RNA specific", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/adar" }, { "slug": "app", "symbol": "APP", "hgnc": "HGNC:620", "name": "amyloid beta precursor protein", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/app" }, { "slug": "atp7a", "symbol": "ATP7A", "hgnc": "HGNC:869", "name": "ATPase copper transporting alpha", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/atp7a" }, { "slug": "brd4", "symbol": "BRD4", "hgnc": "HGNC:13575", "name": "bromodomain containing 4", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/brd4" }, { "slug": "clcf1", "symbol": "CLCF1", "hgnc": "HGNC:17412", "name": "cardiotrophin like cytokine factor 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/clcf1" }, { "slug": "crlf1", "symbol": "CRLF1", "hgnc": "HGNC:2364", "name": "cytokine receptor like factor 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/crlf1" }, { "slug": "cryab", "symbol": "CRYAB", "hgnc": "HGNC:2389", "name": "crystallin alpha B", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cryab" }, { "slug": "dhcr24", "symbol": "DHCR24", "hgnc": "HGNC:2859", "name": "24-dehydrocholesterol reductase", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dhcr24" }, { "slug": "eif2ak2", "symbol": "EIF2AK2", "hgnc": "HGNC:9437", "name": "eukaryotic translation initiation factor 2 alpha kinase 2", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/eif2ak2" }, { "slug": "ercc2", "symbol": "ERCC2", "hgnc": "HGNC:3434", "name": "ERCC excision repair 2, TFIIH core complex helicase subunit", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ercc2" }, { "slug": "ercc5", "symbol": "ERCC5", "hgnc": "HGNC:3437", "name": "ERCC excision repair 5, endonuclease", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ercc5" }, { "slug": "ercc6", "symbol": "ERCC6", "hgnc": "HGNC:3438", "name": "ERCC excision repair 6, chromatin remodeling factor", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ercc6" }, { "slug": "ezh2", "symbol": "EZH2", "hgnc": "HGNC:3527", "name": "enhancer of zeste 2 polycomb repressive complex 2 subunit", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ezh2" }, { "slug": "glra1", "symbol": "GLRA1", "hgnc": "HGNC:4326", "name": "glycine receptor alpha 1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/glra1" }, { "slug": "gpt2", "symbol": "GPT2", "hgnc": "HGNC:18062", "name": "glutamic--pyruvic transaminase 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gpt2" }, { "slug": "hdac8", "symbol": "HDAC8", "hgnc": "HGNC:13315", "name": "histone deacetylase 8", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hdac8" }, { "slug": "hikeshi", "symbol": "HIKESHI", "hgnc": "HGNC:26938", "name": "heat shock protein nuclear import factor hikeshi", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hikeshi" }, { "slug": "hspg2", "symbol": "HSPG2", "hgnc": "HGNC:5273", "name": "heparan sulfate proteoglycan 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hspg2" }, { "slug": "ifih1", "symbol": "IFIH1", "hgnc": "HGNC:18873", "name": "interferon induced with helicase C domain 1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ifih1" }, { "slug": "lsm11", "symbol": "LSM11", "hgnc": "HGNC:30860", "name": "LSM11, U7 small nuclear RNA associated", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/lsm11" }, { "slug": "mau2", "symbol": "MAU2", "hgnc": "HGNC:29140", "name": "MAU2 sister chromatid cohesion factor", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mau2" }, { "slug": "myo5a", "symbol": "MYO5A", "hgnc": "HGNC:7602", "name": "myosin VA", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/myo5a" }, { "slug": "nfu1", "symbol": "NFU1", "hgnc": "HGNC:16287", "name": "NFU1 iron-sulfur cluster scaffold", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/nfu1" }, { "slug": "nsd1", "symbol": "NSD1", "hgnc": "HGNC:14234", "name": "nuclear receptor binding SET domain protein 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nsd1" }, { "slug": "ogdh", "symbol": "OGDH", "hgnc": "HGNC:8124", "name": "oxoglutarate dehydrogenase", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ogdh" }, { "slug": "polr3a", "symbol": "POLR3A", "hgnc": "HGNC:30074", "name": "RNA polymerase III subunit A", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/polr3a" }, { "slug": "psen1", "symbol": "PSEN1", "hgnc": "HGNC:9508", "name": "presenilin 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/psen1" }, { "slug": "psen2", "symbol": "PSEN2", "hgnc": "HGNC:9509", "name": "presenilin 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/psen2" }, { "slug": "rad21", "symbol": "RAD21", "hgnc": "HGNC:9811", "name": "RAD21 cohesin complex component", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rad21" }, { "slug": "rbmx", "symbol": "RBMX", "hgnc": "HGNC:9910", "name": "RNA binding motif protein X-linked", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rbmx" }, { "slug": "rnaseh2a", "symbol": "RNASEH2A", "hgnc": "HGNC:18518", "name": "ribonuclease H2 subunit A", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rnaseh2a" }, { "slug": "rnaseh2b", "symbol": "RNASEH2B", "hgnc": "HGNC:25671", "name": "ribonuclease H2 subunit B", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rnaseh2b" }, { "slug": "rnaseh2c", "symbol": "RNASEH2C", "hgnc": "HGNC:24116", "name": "ribonuclease H2 subunit C", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rnaseh2c" }, { "slug": "rnu4atac", "symbol": "RNU4ATAC", "hgnc": "HGNC:34016", "name": "RNA, U4atac small nuclear", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rnu4atac" }, { "slug": "rnu7-1", "symbol": "RNU7-1", "hgnc": "HGNC:34033", "name": "RNA, U7 small nuclear 1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/rnu7-1" }, { "slug": "samhd1", "symbol": "SAMHD1", "hgnc": "HGNC:15925", "name": "SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/samhd1" }, { "slug": "scn4a", "symbol": "SCN4A", "hgnc": "HGNC:10591", "name": "sodium voltage-gated channel alpha subunit 4", "frequency": "very-frequent", "diseases": 3, "url": "https://dantelabs.com/genes/scn4a" }, { "slug": "shq1", "symbol": "SHQ1", "hgnc": "HGNC:25543", "name": "SHQ1, H/ACA ribonucleoprotein assembly factor", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/shq1" }, { "slug": "slc18a2", "symbol": "SLC18A2", "hgnc": "HGNC:10935", "name": "solute carrier family 18 member A2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/slc18a2" }, { "slug": "slc6a5", "symbol": "SLC6A5", "hgnc": "HGNC:11051", "name": "solute carrier family 6 member 5", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/slc6a5" }, { "slug": "smc3", "symbol": "SMC3", "hgnc": "HGNC:2468", "name": "structural maintenance of chromosomes 3", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/smc3" }, { "slug": "sorl1", "symbol": "SORL1", "hgnc": "HGNC:11185", "name": "sortilin related receptor 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sorl1" }, { "slug": "suz12", "symbol": "SUZ12", "hgnc": "HGNC:17101", "name": "SUZ12 polycomb repressive complex 2 subunit", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/suz12" }, { "slug": "toe1", "symbol": "TOE1", "hgnc": "HGNC:15954", "name": "target of EGR1, exonuclease", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/toe1" }, { "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": 1, "url": "https://dantelabs.com/genes/trem2" }, { "slug": "trex1", "symbol": "TREX1", "hgnc": "HGNC:12269", "name": "three prime repair exonuclease 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/trex1" }, { "slug": "vamp1", "symbol": "VAMP1", "hgnc": "HGNC:12642", "name": "vesicle associated membrane protein 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/vamp1" }, { "slug": "znf526", "symbol": "ZNF526", "hgnc": "HGNC:29415", "name": "zinc finger protein 526", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/znf526" }, { "slug": "acd", "symbol": "ACD", "hgnc": "HGNC:25070", "name": "ACD shelterin complex subunit and telomerase recruitment factor", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/acd" }, { "slug": "ahdc1", "symbol": "AHDC1", "hgnc": "HGNC:25230", "name": "AT-hook DNA binding motif containing 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ahdc1" }, { "slug": "alg11", "symbol": "ALG11", "hgnc": "HGNC:32456", "name": "ALG11 alpha-1,2-mannosyltransferase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/alg11" }, { "slug": "als2", "symbol": "ALS2", "hgnc": "HGNC:443", "name": "alsin Rho guanine nucleotide exchange factor ALS2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/als2" }, { "slug": "apc2", "symbol": "APC2", "hgnc": "HGNC:24036", "name": "APC regulator of Wnt signaling pathway 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/apc2" }, { "slug": "atm", "symbol": "ATM", "hgnc": "HGNC:795", "name": "ATM serine/threonine kinase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/atm" }, { "slug": "auts2", "symbol": "AUTS2", "hgnc": "HGNC:14262", "name": "activator of transcription and developmental regulator AUTS2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/auts2" }, { "slug": "b3galnt2", "symbol": "B3GALNT2", "hgnc": "HGNC:28596", "name": "beta-1,3-N-acetylgalactosaminyltransferase 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/b3galnt2" }, { "slug": "bmpr1a", "symbol": "BMPR1A", "hgnc": "HGNC:1076", "name": "bone morphogenetic protein receptor type 1A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bmpr1a" }, { "slug": "brat1", "symbol": "BRAT1", "hgnc": "HGNC:21701", "name": "BRCA1 associated ATM activator 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/brat1" }, { "slug": "brca2", "symbol": "BRCA2", "hgnc": "HGNC:1101", "name": "BRCA2 DNA repair associated", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/brca2" }, { "slug": "c12orf57", "symbol": "C12orf57", "hgnc": "HGNC:29521", "name": "chromosome 12 open reading frame 57", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/c12orf57" }, { "slug": "cdc40", "symbol": "CDC40", "hgnc": "HGNC:17350", "name": "cell division cycle 40", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cdc40" }, { "slug": "chek2", "symbol": "CHEK2", "hgnc": "HGNC:16627", "name": "checkpoint kinase 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/chek2" }, { "slug": "cit", "symbol": "CIT", "hgnc": "HGNC:1985", "name": "citron rho-interacting serine/threonine kinase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cit" }, { "slug": "clp1", "symbol": "CLP1", "hgnc": "HGNC:16999", "name": "cleavage factor polyribonucleotide kinase subunit 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/clp1" }, { "slug": "crppa", "symbol": "CRPPA", "hgnc": "HGNC:37276", "name": "CDP-L-ribitol pyrophosphorylase A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/crppa" }, { "slug": "dkc1", "symbol": "DKC1", "hgnc": "HGNC:2890", "name": "dyskerin pseudouridine synthase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dkc1" }, { "slug": "dlat", "symbol": "DLAT", "hgnc": "HGNC:2896", "name": "dihydrolipoamide S-acetyltransferase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dlat" }, { "slug": "dtymk", "symbol": "DTYMK", "hgnc": "HGNC:3061", "name": "deoxythymidylate kinase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dtymk" }, { "slug": "eif2s3", "symbol": "EIF2S3", "hgnc": "HGNC:3267", "name": "eukaryotic translation initiation factor 2 subunit gamma", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/eif2s3" }, { "slug": "epcam", "symbol": "EPCAM", "hgnc": "HGNC:11529", "name": "epithelial cell adhesion molecule", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/epcam" }, { "slug": "erlin1", "symbol": "ERLIN1", "hgnc": "HGNC:16947", "name": "ER lipid raft associated 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/erlin1" }, { "slug": "exoc8", "symbol": "EXOC8", "hgnc": "HGNC:24659", "name": "exocyst complex component 8", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/exoc8" }, { "slug": "fgfr1", "symbol": "FGFR1", "hgnc": "HGNC:3688", "name": "fibroblast growth factor receptor 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fgfr1" }, { "slug": "fkrp", "symbol": "FKRP", "hgnc": "HGNC:17997", "name": "fukutin related protein", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fkrp" }, { "slug": "fktn", "symbol": "FKTN", "hgnc": "HGNC:3622", "name": "fukutin", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fktn" }, { "slug": "frmd4a", "symbol": "FRMD4A", "hgnc": "HGNC:25491", "name": "FERM domain containing 4A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/frmd4a" }, { "slug": "fus", "symbol": "FUS", "hgnc": "HGNC:4010", "name": "FUS RNA binding protein", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fus" }, { "slug": "gamt", "symbol": "GAMT", "hgnc": "HGNC:4136", "name": "guanidinoacetate N-methyltransferase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gamt" }, { "slug": "gba1", "symbol": "GBA1", "hgnc": "HGNC:4177", "name": "glucosylceramidase beta 1", "frequency": "frequent", "diseases": 3, "url": "https://dantelabs.com/genes/gba1" }, { "slug": "glrx5", "symbol": "GLRX5", "hgnc": "HGNC:20134", "name": "glutaredoxin 5", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/glrx5" }, { "slug": "gmppb", "symbol": "GMPPB", "hgnc": "HGNC:22932", "name": "GDP-mannose pyrophosphorylase B", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/gmppb" }, { "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": "gria4", "symbol": "GRIA4", "hgnc": "HGNC:4574", "name": "glutamate ionotropic receptor AMPA type subunit 4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gria4" }, { "slug": "jam2", "symbol": "JAM2", "hgnc": "HGNC:14686", "name": "junctional adhesion molecule 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/jam2" }, { "slug": "kcnj6", "symbol": "KCNJ6", "hgnc": "HGNC:6267", "name": "potassium inwardly rectifying channel subfamily J member 6", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/kcnj6" }, { "slug": "kras", "symbol": "KRAS", "hgnc": "HGNC:6407", "name": "KRas proto-oncogene, GTPase", "frequency": "frequent", "diseases": 3, "url": "https://dantelabs.com/genes/kras" }, { "slug": "kynu", "symbol": "KYNU", "hgnc": "HGNC:6469", "name": "kynureninase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kynu" }, { "slug": "large1", "symbol": "LARGE1", "hgnc": "HGNC:6511", "name": "LARGE xylosyl- and glucuronyltransferase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/large1" }, { "slug": "lingo1", "symbol": "LINGO1", "hgnc": "HGNC:21205", "name": "leucine rich repeat and Ig domain containing 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/lingo1" }, { "slug": "mlh1", "symbol": "MLH1", "hgnc": "HGNC:7127", "name": "mutL homolog 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mlh1" }, { "slug": "mpdu1", "symbol": "MPDU1", "hgnc": "HGNC:7207", "name": "mannose-P-dolichol utilization defect 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/mpdu1" }, { "slug": "msh2", "symbol": "MSH2", "hgnc": "HGNC:7325", "name": "mutS homolog 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/msh2" }, { "slug": "msh6", "symbol": "MSH6", "hgnc": "HGNC:7329", "name": "mutS homolog 6", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/msh6" }, { "slug": "mt-atp6", "symbol": "MT-ATP6", "hgnc": "HGNC:7414", "name": "mitochondrially encoded ATP synthase membrane subunit 6", "frequency": "frequent", "diseases": 2, "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": "frequent", "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": "frequent", "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": "frequent", "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": "frequent", "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": "frequent", "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": "frequent", "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": "frequent", "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": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mt-tl1" }, { "slug": "mt-tv", "symbol": "MT-TV", "hgnc": "HGNC:7500", "name": "mitochondrially encoded tRNA-Val (GUN)", "frequency": "frequent", "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": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mt-tw" }, { "slug": "mthfs", "symbol": "MTHFS", "hgnc": "HGNC:7437", "name": "methenyltetrahydrofolate synthetase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mthfs" }, { "slug": "mtrr", "symbol": "MTRR", "hgnc": "HGNC:7473", "name": "5-methyltetrahydrofolate-homocysteine methyltransferase reductase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mtrr" }, { "slug": "mutyh", "symbol": "MUTYH", "hgnc": "HGNC:7527", "name": "mutY DNA glycosylase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mutyh" }, { "slug": "nags", "symbol": "NAGS", "hgnc": "HGNC:17996", "name": "N-acetylglutamate synthase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nags" }, { "slug": "nars1", "symbol": "NARS1", "hgnc": "HGNC:7643", "name": "asparaginyl-tRNA synthetase 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/nars1" }, { "slug": "ncapg2", "symbol": "NCAPG2", "hgnc": "HGNC:21904", "name": "non-SMC condensin II complex subunit G2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ncapg2" }, { "slug": "nde1", "symbol": "NDE1", "hgnc": "HGNC:17619", "name": "nudE neurodevelopment protein 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nde1" }, { "slug": "ndufa8", "symbol": "NDUFA8", "hgnc": "HGNC:7692", "name": "NADH:ubiquinone oxidoreductase subunit A8", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ndufa8" }, { "slug": "ndufaf3", "symbol": "NDUFAF3", "hgnc": "HGNC:29918", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ndufaf3" }, { "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": "npat", "symbol": "NPAT", "hgnc": "HGNC:7896", "name": "nuclear protein, coactivator of histone transcription", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/npat" }, { "slug": "nsun2", "symbol": "NSUN2", "hgnc": "HGNC:25994", "name": "NOP2/Sun RNA methyltransferase 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nsun2" }, { "slug": "nup214", "symbol": "NUP214", "hgnc": "HGNC:8064", "name": "nucleoporin 214", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nup214" }, { "slug": "ostm1", "symbol": "OSTM1", "hgnc": "HGNC:21652", "name": "osteoclastogenesis associated transmembrane protein 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ostm1" }, { "slug": "parn", "symbol": "PARN", "hgnc": "HGNC:8609", "name": "poly(A)-specific ribonuclease", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/parn" }, { "slug": "pgap1", "symbol": "PGAP1", "hgnc": "HGNC:25712", "name": "post-GPI attachment to proteins inositol deacylase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pgap1" }, { "slug": "piezo2", "symbol": "PIEZO2", "hgnc": "HGNC:26270", "name": "piezo type mechanosensitive ion channel component 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/piezo2" }, { "slug": "pik3ca", "symbol": "PIK3CA", "hgnc": "HGNC:8975", "name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pik3ca" }, { "slug": "plk4", "symbol": "PLK4", "hgnc": "HGNC:11397", "name": "polo like kinase 4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/plk4" }, { "slug": "plpbp", "symbol": "PLPBP", "hgnc": "HGNC:9457", "name": "pyridoxal phosphate binding protein", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/plpbp" }, { "slug": "pms1", "symbol": "PMS1", "hgnc": "HGNC:9121", "name": "PMS1 homolog 1, mismatch repair system component", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pms1" }, { "slug": "pms2", "symbol": "PMS2", "hgnc": "HGNC:9122", "name": "PMS1 homolog 2, mismatch repair system component", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pms2" }, { "slug": "pnpo", "symbol": "PNPO", "hgnc": "HGNC:30260", "name": "pyridoxamine 5'-phosphate oxidase", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/pnpo" }, { "slug": "pold1", "symbol": "POLD1", "hgnc": "HGNC:9175", "name": "DNA polymerase delta 1, catalytic subunit", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pold1" }, { "slug": "pole", "symbol": "POLE", "hgnc": "HGNC:9177", "name": "DNA polymerase epsilon, catalytic subunit", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pole" }, { "slug": "polg", "symbol": "POLG", "hgnc": "HGNC:9179", "name": "DNA polymerase gamma, catalytic subunit", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/polg" }, { "slug": "pomgnt1", "symbol": "POMGNT1", "hgnc": "HGNC:19139", "name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pomgnt1" }, { "slug": "pomt1", "symbol": "POMT1", "hgnc": "HGNC:9202", "name": "protein O-mannosyltransferase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pomt1" }, { "slug": "pomt2", "symbol": "POMT2", "hgnc": "HGNC:19743", "name": "protein O-mannosyltransferase 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pomt2" }, { "slug": "ppfibp1", "symbol": "PPFIBP1", "hgnc": "HGNC:9249", "name": "PPFIB scaffold protein 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ppfibp1" }, { "slug": "ppil1", "symbol": "PPIL1", "hgnc": "HGNC:9260", "name": "peptidylprolyl isomerase like 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ppil1" }, { "slug": "prdm13", "symbol": "PRDM13", "hgnc": "HGNC:13998", "name": "PR/SET domain 13", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/prdm13" }, { "slug": "psat1", "symbol": "PSAT1", "hgnc": "HGNC:19129", "name": "phosphoserine aminotransferase 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/psat1" }, { "slug": "ranbp2", "symbol": "RANBP2", "hgnc": "HGNC:9848", "name": "RAN binding protein 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ranbp2" }, { "slug": "reep1", "symbol": "REEP1", "hgnc": "HGNC:25786", "name": "receptor accessory protein 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/reep1" }, { "slug": "rps20", "symbol": "RPS20", "hgnc": "HGNC:10405", "name": "ribosomal protein S20", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rps20" }, { "slug": "rps6ka3", "symbol": "RPS6KA3", "hgnc": "HGNC:10432", "name": "ribosomal protein S6 kinase A3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rps6ka3" }, { "slug": "rtel1", "symbol": "RTEL1", "hgnc": "HGNC:15888", "name": "regulator of telomere elongation helicase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rtel1" }, { "slug": "sema4a", "symbol": "SEMA4A", "hgnc": "HGNC:10729", "name": "semaphorin 4A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sema4a" }, { "slug": "sigmar1", "symbol": "SIGMAR1", "hgnc": "HGNC:8157", "name": "sigma receptor chaperone 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sigmar1" }, { "slug": "sil1", "symbol": "SIL1", "hgnc": "HGNC:24624", "name": "SIL1 nucleotide exchange factor", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sil1" }, { "slug": "slc1a4", "symbol": "SLC1A4", "hgnc": "HGNC:10942", "name": "solute carrier family 1 member 4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/slc1a4" }, { "slug": "slc25a46", "symbol": "SLC25A46", "hgnc": "HGNC:25198", "name": "solute carrier family 25 member 46", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/slc25a46" }, { "slug": "slc30a10", "symbol": "SLC30A10", "hgnc": "HGNC:25355", "name": "solute carrier family 30 member 10", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/slc30a10" }, { "slug": "slc6a8", "symbol": "SLC6A8", "hgnc": "HGNC:11055", "name": "solute carrier family 6 member 8", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/slc6a8" }, { "slug": "smpd4", "symbol": "SMPD4", "hgnc": "HGNC:32949", "name": "sphingomyelin phosphodiesterase 4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/smpd4" }, { "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": 1, "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": "stt3a", "symbol": "STT3A", "hgnc": "HGNC:6172", "name": "STT3 oligosaccharyltransferase complex catalytic subunit A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/stt3a" }, { "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": "terc", "symbol": "TERC", "hgnc": "HGNC:11727", "name": "telomerase RNA component", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/terc" }, { "slug": "tert", "symbol": "TERT", "hgnc": "HGNC:11730", "name": "telomerase reverse transcriptase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tert" }, { "slug": "tgfbr2", "symbol": "TGFBR2", "hgnc": "HGNC:11773", "name": "transforming growth factor beta receptor 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tgfbr2" }, { "slug": "tinf2", "symbol": "TINF2", "hgnc": "HGNC:11824", "name": "TERF1 interacting nuclear factor 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/tinf2" }, { "slug": "tm2d3", "symbol": "TM2D3", "hgnc": "HGNC:24128", "name": "TM2 domain containing 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tm2d3" }, { "slug": "trmt2b", "symbol": "TRMT2B", "hgnc": "HGNC:25748", "name": "tRNA methyltransferase 2B", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/trmt2b" }, { "slug": "trmt5", "symbol": "TRMT5", "hgnc": "HGNC:23141", "name": "tRNA methyltransferase 5", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/trmt5" }, { "slug": "tubgcp4", "symbol": "TUBGCP4", "hgnc": "HGNC:16691", "name": "tubulin gamma complex component 4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tubgcp4" }, { "slug": "tubgcp6", "symbol": "TUBGCP6", "hgnc": "HGNC:18127", "name": "tubulin gamma complex component 6", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tubgcp6" }, { "slug": "ubqln2", "symbol": "UBQLN2", "hgnc": "HGNC:12509", "name": "ubiquilin 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ubqln2" }, { "slug": "uggt1", "symbol": "UGGT1", "hgnc": "HGNC:15663", "name": "UDP-glucose glycoprotein glucosyltransferase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/uggt1" }, { "slug": "aars1", "symbol": "AARS1", "hgnc": "HGNC:20", "name": "alanyl-tRNA synthetase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/aars1" }, { "slug": "acox1", "symbol": "ACOX1", "hgnc": "HGNC:119", "name": "acyl-CoA oxidase 1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/acox1" }, { "slug": "acta1", "symbol": "ACTA1", "hgnc": "HGNC:129", "name": "actin alpha 1, skeletal muscle", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/acta1" }, { "slug": "afg2a", "symbol": "AFG2A", "hgnc": "HGNC:18119", "name": "AAA ATPase AFG2A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/afg2a" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "hgnc": "HGNC:403", "name": "aldehyde dehydrogenase 3 family member A2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/aldh3a2" }, { "slug": "alg3", "symbol": "ALG3", "hgnc": "HGNC:23056", "name": "ALG3 alpha-1,3- mannosyltransferase", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/alg3" }, { "slug": "arhgap31", "symbol": "ARHGAP31", "hgnc": "HGNC:29216", "name": "Rho GTPase activating protein 31", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/arhgap31" }, { "slug": "asxl3", "symbol": "ASXL3", "hgnc": "HGNC:29357", "name": "ASXL transcriptional regulator 3", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/asxl3" }, { "slug": "cars1", "symbol": "CARS1", "hgnc": "HGNC:1493", "name": "cysteinyl-tRNA synthetase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cars1" }, { "slug": "cfap20", "symbol": "CFAP20", "hgnc": "HGNC:29523", "name": "cilia and flagella associated protein 20", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cfap20" }, { "slug": "chmp1a", "symbol": "CHMP1A", "hgnc": "HGNC:8740", "name": "charged multivesicular body protein 1A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/chmp1a" }, { "slug": "clpb", "symbol": "CLPB", "hgnc": "HGNC:30664", "name": "ClpB family mitochondrial disaggregase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/clpb" }, { "slug": "ctnna2", "symbol": "CTNNA2", "hgnc": "HGNC:2510", "name": "catenin alpha 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ctnna2" }, { "slug": "dbr1", "symbol": "DBR1", "hgnc": "HGNC:15594", "name": "debranching RNA lariats 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dbr1" }, { "slug": "dhcr7", "symbol": "DHCR7", "hgnc": "HGNC:2860", "name": "7-dehydrocholesterol reductase", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/dhcr7" }, { "slug": "dll4", "symbol": "DLL4", "hgnc": "HGNC:2910", "name": "delta like canonical Notch ligand 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dll4" }, { "slug": "dock6", "symbol": "DOCK6", "hgnc": "HGNC:19189", "name": "dedicator of cytokinesis 6", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dock6" }, { "slug": "dpagt1", "symbol": "DPAGT1", "hgnc": "HGNC:2995", "name": "dolichyl-phosphate N-acetylglucosaminephosphotransferase 1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/dpagt1" }, { "slug": "dpyd", "symbol": "DPYD", "hgnc": "HGNC:3012", "name": "dihydropyrimidine dehydrogenase", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/dpyd" }, { "slug": "dyrk1a", "symbol": "DYRK1A", "hgnc": "HGNC:3091", "name": "dual specificity tyrosine phosphorylation regulated kinase 1A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dyrk1a" }, { "slug": "eogt", "symbol": "EOGT", "hgnc": "HGNC:28526", "name": "EGF domain specific O-linked N-acetylglucosamine transferase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/eogt" }, { "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": "extl3", "symbol": "EXTL3", "hgnc": "HGNC:3518", "name": "exostosin like glycosyltransferase 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/extl3" }, { "slug": "fbxo22", "symbol": "FBXO22", "hgnc": "HGNC:13593", "name": "F-box protein 22", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fbxo22" }, { "slug": "fbxw11", "symbol": "FBXW11", "hgnc": "HGNC:13607", "name": "F-box and WD repeat domain containing 11", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fbxw11" }, { "slug": "gad1", "symbol": "GAD1", "hgnc": "HGNC:4092", "name": "glutamate decarboxylase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gad1" }, { "slug": "gnai1", "symbol": "GNAI1", "hgnc": "HGNC:4384", "name": "G protein subunit alpha i1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gnai1" }, { "slug": "gon7", "symbol": "GON7", "hgnc": "HGNC:20356", "name": "GON7 subunit of KEOPS complex", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gon7" }, { "slug": "grin2a", "symbol": "GRIN2A", "hgnc": "HGNC:4585", "name": "glutamate ionotropic receptor NMDA type subunit 2A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/grin2a" }, { "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": "gtf3c3", "symbol": "GTF3C3", "hgnc": "HGNC:4666", "name": "general transcription factor IIIC subunit 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gtf3c3" }, { "slug": "h1-4", "symbol": "H1-4", "hgnc": "HGNC:4718", "name": "H1.4 linker histone, cluster member", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/h1-4" }, { "slug": "hnrnpc", "symbol": "HNRNPC", "hgnc": "HGNC:5035", "name": "heterogeneous nuclear ribonucleoprotein C", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/hnrnpc" }, { "slug": "hnrnph2", "symbol": "HNRNPH2", "hgnc": "HGNC:5042", "name": "heterogeneous nuclear ribonucleoprotein H2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/hnrnph2" }, { "slug": "hs2st1", "symbol": "HS2ST1", "hgnc": "HGNC:5193", "name": "heparan sulfate 2-O-sulfotransferase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/hs2st1" }, { "slug": "kars1", "symbol": "KARS1", "hgnc": "HGNC:6215", "name": "lysyl-tRNA synthetase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kars1" }, { "slug": "kcna1", "symbol": "KCNA1", "hgnc": "HGNC:6218", "name": "potassium voltage-gated channel subfamily A member 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kcna1" }, { "slug": "kcnq2", "symbol": "KCNQ2", "hgnc": "HGNC:6296", "name": "potassium voltage-gated channel subfamily Q member 2", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/kcnq2" }, { "slug": "kcnq3", "symbol": "KCNQ3", "hgnc": "HGNC:6297", "name": "potassium voltage-gated channel subfamily Q member 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kcnq3" }, { "slug": "kcnt1", "symbol": "KCNT1", "hgnc": "HGNC:18865", "name": "potassium sodium-activated channel subfamily T member 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kcnt1" }, { "slug": "kif11", "symbol": "KIF11", "hgnc": "HGNC:6388", "name": "kinesin family member 11", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kif11" }, { "slug": "lage3", "symbol": "LAGE3", "hgnc": "HGNC:26058", "name": "L antigen family member 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lage3" }, { "slug": "lmnb1", "symbol": "LMNB1", "hgnc": "HGNC:6637", "name": "lamin B1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lmnb1" }, { "slug": "lyst", "symbol": "LYST", "hgnc": "HGNC:1968", "name": "lysosomal trafficking regulator", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lyst" }, { "slug": "mipep", "symbol": "MIPEP", "hgnc": "HGNC:7104", "name": "mitochondrial intermediate peptidase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mipep" }, { "slug": "morc2", "symbol": "MORC2", "hgnc": "HGNC:23573", "name": "MORC family CW-type zinc finger 2", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/morc2" }, { "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": "naa10", "symbol": "NAA10", "hgnc": "HGNC:18704", "name": "N-alpha-acetyltransferase 10, NatA catalytic subunit", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/naa10" }, { "slug": "nalcn", "symbol": "NALCN", "hgnc": "HGNC:19082", "name": "sodium leak channel, non-selective", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nalcn" }, { "slug": "ndp", "symbol": "NDP", "hgnc": "HGNC:7678", "name": "norrin cystine knot growth factor NDP", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ndp" }, { "slug": "nfix", "symbol": "NFIX", "hgnc": "HGNC:7788", "name": "nuclear factor I X", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nfix" }, { "slug": "nop56", "symbol": "NOP56", "hgnc": "HGNC:15911", "name": "NOP56 ribonucleoprotein", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nop56" }, { "slug": "notch1", "symbol": "NOTCH1", "hgnc": "HGNC:7881", "name": "notch receptor 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/notch1" }, { "slug": "nphp3", "symbol": "NPHP3", "hgnc": "HGNC:7907", "name": "nephrocystin 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nphp3" }, { "slug": "nup107", "symbol": "NUP107", "hgnc": "HGNC:29914", "name": "nucleoporin 107", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nup107" }, { "slug": "nup133", "symbol": "NUP133", "hgnc": "HGNC:18016", "name": "nucleoporin 133", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nup133" }, { "slug": "nup54", "symbol": "NUP54", "hgnc": "HGNC:17359", "name": "nucleoporin 54", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nup54" }, { "slug": "nup62", "symbol": "NUP62", "hgnc": "HGNC:8066", "name": "nucleoporin 62", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nup62" }, { "slug": "osgep", "symbol": "OSGEP", "hgnc": "HGNC:18028", "name": "O-sialoglycoprotein endopeptidase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/osgep" }, { "slug": "otud6b", "symbol": "OTUD6B", "hgnc": "HGNC:24281", "name": "OTU deubiquitinase 6B", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/otud6b" }, { "slug": "pcbd1", "symbol": "PCBD1", "hgnc": "HGNC:8646", "name": "pterin-4 alpha-carbinolamine dehydratase 1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/pcbd1" }, { "slug": "pex16", "symbol": "PEX16", "hgnc": "HGNC:8857", "name": "peroxisomal biogenesis factor 16", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pex16" }, { "slug": "phgdh", "symbol": "PHGDH", "hgnc": "HGNC:8923", "name": "phosphoglycerate dehydrogenase", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/phgdh" }, { "slug": "piga", "symbol": "PIGA", "hgnc": "HGNC:8957", "name": "phosphatidylinositol glycan anchor biosynthesis class A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/piga" }, { "slug": "plcb1", "symbol": "PLCB1", "hgnc": "HGNC:15917", "name": "phospholipase C beta 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/plcb1" }, { "slug": "pnp", "symbol": "PNP", "hgnc": "HGNC:7892", "name": "purine nucleoside phosphorylase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pnp" }, { "slug": "ppfia3", "symbol": "PPFIA3", "hgnc": "HGNC:9247", "name": "PPFI scaffold protein A3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ppfia3" }, { "slug": "prorp", "symbol": "PRORP", "hgnc": "HGNC:19958", "name": "protein only RNase P catalytic subunit", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/prorp" }, { "slug": "prrt2", "symbol": "PRRT2", "hgnc": "HGNC:30500", "name": "proline rich transmembrane protein 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/prrt2" }, { "slug": "psph", "symbol": "PSPH", "hgnc": "HGNC:9577", "name": "phosphoserine phosphatase", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/psph" }, { "slug": "pts", "symbol": "PTS", "hgnc": "HGNC:9689", "name": "6-pyruvoyltetrahydropterin synthase", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/pts" }, { "slug": "rab27a", "symbol": "RAB27A", "hgnc": "HGNC:9766", "name": "RAB27A, member RAS oncogene family", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rab27a" }, { "slug": "rbpj", "symbol": "RBPJ", "hgnc": "HGNC:5724", "name": "recombination signal binding protein for immunoglobulin kappa J region", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rbpj" }, { "slug": "rnf113a", "symbol": "RNF113A", "hgnc": "HGNC:12974", "name": "ring finger protein 113A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rnf113a" }, { "slug": "rttn", "symbol": "RTTN", "hgnc": "HGNC:18654", "name": "rotatin", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rttn" }, { "slug": "satb2", "symbol": "SATB2", "hgnc": "HGNC:21637", "name": "SATB homeobox 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/satb2" }, { "slug": "scaf4", "symbol": "SCAF4", "hgnc": "HGNC:19304", "name": "SR-related CTD associated factor 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/scaf4" }, { "slug": "scn1a", "symbol": "SCN1A", "hgnc": "HGNC:10585", "name": "sodium voltage-gated channel alpha subunit 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/scn1a" }, { "slug": "scn2a", "symbol": "SCN2A", "hgnc": "HGNC:10588", "name": "sodium voltage-gated channel alpha subunit 2", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/scn2a" }, { "slug": "scn8a", "symbol": "SCN8A", "hgnc": "HGNC:10596", "name": "sodium voltage-gated channel alpha subunit 8", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/scn8a" }, { "slug": "slc12a5", "symbol": "SLC12A5", "hgnc": "HGNC:13818", "name": "solute carrier family 12 member 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/slc12a5" }, { "slug": "slc25a22", "symbol": "SLC25A22", "hgnc": "HGNC:19954", "name": "solute carrier family 25 member 22", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/slc25a22" }, { "slug": "slf2", "symbol": "SLF2", "hgnc": "HGNC:17814", "name": "SMC5/6 complex localization factor 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/slf2" }, { "slug": "sptbn1", "symbol": "SPTBN1", "hgnc": "HGNC:11275", "name": "spectrin beta, non-erythrocytic 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sptbn1" }, { "slug": "suclg1", "symbol": "SUCLG1", "hgnc": "HGNC:11449", "name": "succinate-CoA ligase GDP/ADP-forming subunit alpha", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/suclg1" }, { "slug": "tango2", "symbol": "TANGO2", "hgnc": "HGNC:25439", "name": "transport and golgi organization 2 homolog", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tango2" }, { "slug": "tars1", "symbol": "TARS1", "hgnc": "HGNC:11572", "name": "threonyl-tRNA synthetase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tars1" }, { "slug": "tbc1d24", "symbol": "TBC1D24", "hgnc": "HGNC:29203", "name": "TBC1 domain family member 24", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tbc1d24" }, { "slug": "tbl1xr1", "symbol": "TBL1XR1", "hgnc": "HGNC:29529", "name": "TBL1X/Y related 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tbl1xr1" }, { "slug": "telo2", "symbol": "TELO2", "hgnc": "HGNC:29099", "name": "telomere maintenance 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/telo2" }, { "slug": "timm50", "symbol": "TIMM50", "hgnc": "HGNC:23656", "name": "translocase of inner mitochondrial membrane 50", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/timm50" }, { "slug": "tmem106b", "symbol": "TMEM106B", "hgnc": "HGNC:22407", "name": "transmembrane protein 106B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tmem106b" }, { "slug": "tnpo2", "symbol": "TNPO2", "hgnc": "HGNC:19998", "name": "transportin 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tnpo2" }, { "slug": "tp53", "symbol": "TP53", "hgnc": "HGNC:11998", "name": "tumor protein p53", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tp53" }, { "slug": "tp53rk", "symbol": "TP53RK", "hgnc": "HGNC:16197", "name": "TP53 regulating kinase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tp53rk" }, { "slug": "tpm2", "symbol": "TPM2", "hgnc": "HGNC:12011", "name": "tropomyosin 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tpm2" }, { "slug": "tprkb", "symbol": "TPRKB", "hgnc": "HGNC:24259", "name": "TP53RK binding protein", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tprkb" }, { "slug": "traf7", "symbol": "TRAF7", "hgnc": "HGNC:20456", "name": "TNF receptor associated factor 7", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/traf7" }, { "slug": "ttpa", "symbol": "TTPA", "hgnc": "HGNC:12404", "name": "alpha tocopherol transfer protein", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ttpa" }, { "slug": "unc13a", "symbol": "UNC13A", "hgnc": "HGNC:23150", "name": "unc-13 homolog A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/unc13a" }, { "slug": "vps13a", "symbol": "VPS13A", "hgnc": "HGNC:1908", "name": "vacuolar protein sorting 13 homolog A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/vps13a" }, { "slug": "wdr62", "symbol": "WDR62", "hgnc": "HGNC:24502", "name": "WD repeat domain 62", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/wdr62" }, { "slug": "wdr73", "symbol": "WDR73", "hgnc": "HGNC:25928", "name": "WD repeat domain 73", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/wdr73" }, { "slug": "wls", "symbol": "WLS", "hgnc": "HGNC:30238", "name": "Wnt ligand secretion mediator", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/wls" }, { "slug": "yrdc", "symbol": "YRDC", "hgnc": "HGNC:28905", "name": "yrdC N6-threonylcarbamoyltransferase domain containing", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/yrdc" }, { "slug": "znf292", "symbol": "ZNF292", "hgnc": "HGNC:18410", "name": "zinc finger protein 292", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/znf292" }, { "slug": "zswim6", "symbol": "ZSWIM6", "hgnc": "HGNC:29316", "name": "zinc finger SWIM-type containing 6", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/zswim6" }, { "slug": "acads", "symbol": "ACADS", "hgnc": "HGNC:90", "name": "acyl-CoA dehydrogenase short chain", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/acads" }, { "slug": "adnp", "symbol": "ADNP", "hgnc": "HGNC:15766", "name": "activity dependent neuroprotector homeobox", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/adnp" }, { "slug": "cyb5a", "symbol": "CYB5A", "hgnc": "HGNC:2570", "name": "cytochrome b5 type A", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/cyb5a" }, { "slug": "dars2", "symbol": "DARS2", "hgnc": "HGNC:25538", "name": "aspartyl-tRNA synthetase 2, mitochondrial", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/dars2" }, { "slug": "glb1", "symbol": "GLB1", "hgnc": "HGNC:4298", "name": "galactosidase beta 1", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/glb1" }, { "slug": "polg2", "symbol": "POLG2", "hgnc": "HGNC:9180", "name": "DNA polymerase gamma 2, accessory subunit", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/polg2" }, { "slug": "rrm2b", "symbol": "RRM2B", "hgnc": "HGNC:17296", "name": "ribonucleotide reductase regulatory TP53 inducible subunit M2B", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/rrm2b" }, { "slug": "setbp1", "symbol": "SETBP1", "hgnc": "HGNC:15573", "name": "SET binding protein 1", "frequency": "very-rare", "diseases": 2, "url": "https://dantelabs.com/genes/setbp1" }, { "slug": "slc25a4", "symbol": "SLC25A4", "hgnc": "HGNC:10990", "name": "solute carrier family 25 member 4", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/slc25a4" }, { "slug": "twnk", "symbol": "TWNK", "hgnc": "HGNC:1160", "name": "twinkle mtDNA helicase", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/twnk" }, { "slug": "bckdha", "symbol": "BCKDHA", "hgnc": "HGNC:986", "name": "branched chain keto acid dehydrogenase E1 subunit alpha", "diseases": 1, "url": "https://dantelabs.com/genes/bckdha" }, { "slug": "braf", "symbol": "BRAF", "hgnc": "HGNC:1097", "name": "B-Raf proto-oncogene, serine/threonine kinase", "diseases": 1, "url": "https://dantelabs.com/genes/braf" }, { "slug": "cacna1a", "symbol": "CACNA1A", "hgnc": "HGNC:1388", "name": "calcium voltage-gated channel subunit alpha1 A", "diseases": 1, "url": "https://dantelabs.com/genes/cacna1a" }, { "slug": "cask", "symbol": "CASK", "hgnc": "HGNC:1497", "name": "calcium/calmodulin dependent serine protein kinase", "diseases": 1, "url": "https://dantelabs.com/genes/cask" }, { "slug": "dnajc12", "symbol": "DNAJC12", "hgnc": "HGNC:28908", "name": "DnaJ heat shock protein family (Hsp40) member C12", "diseases": 1, "url": "https://dantelabs.com/genes/dnajc12" }, { "slug": "ebp", "symbol": "EBP", "hgnc": "HGNC:3133", "name": "EBP cholestenol delta-isomerase", "diseases": 1, "url": "https://dantelabs.com/genes/ebp" }, { "slug": "eif2ak3", "symbol": "EIF2AK3", "hgnc": "HGNC:3255", "name": "eukaryotic translation initiation factor 2 alpha kinase 3", "diseases": 1, "url": "https://dantelabs.com/genes/eif2ak3" }, { "slug": "galc", "symbol": "GALC", "hgnc": "HGNC:4115", "name": "galactosylceramidase", "diseases": 1, "url": "https://dantelabs.com/genes/galc" }, { "slug": "gm2a", "symbol": "GM2A", "hgnc": "HGNC:4367", "name": "ganglioside GM2 activator", "diseases": 1, "url": "https://dantelabs.com/genes/gm2a" }, { "slug": "hepacam", "symbol": "HEPACAM", "hgnc": "HGNC:26361", "name": "hepatic and glial cell adhesion molecule", "diseases": 1, "url": "https://dantelabs.com/genes/hepacam" }, { "slug": "hexa", "symbol": "HEXA", "hgnc": "HGNC:4878", "name": "hexosaminidase subunit alpha", "diseases": 1, "url": "https://dantelabs.com/genes/hexa" }, { "slug": "hlcs", "symbol": "HLCS", "hgnc": "HGNC:4976", "name": "holocarboxylase synthetase", "diseases": 1, "url": "https://dantelabs.com/genes/hlcs" }, { "slug": "htra2", "symbol": "HTRA2", "hgnc": "HGNC:14348", "name": "HtrA serine peptidase 2", "diseases": 1, "url": "https://dantelabs.com/genes/htra2" }, { "slug": "htt", "symbol": "HTT", "hgnc": "HGNC:4851", "name": "huntingtin", "diseases": 1, "url": "https://dantelabs.com/genes/htt" }, { "slug": "itm2b", "symbol": "ITM2B", "hgnc": "HGNC:6174", "name": "integral membrane protein 2B", "diseases": 1, "url": "https://dantelabs.com/genes/itm2b" }, { "slug": "kcna4", "symbol": "KCNA4", "hgnc": "HGNC:6222", "name": "potassium voltage-gated channel subfamily A member 4", "diseases": 1, "url": "https://dantelabs.com/genes/kcna4" }, { "slug": "map2k1", "symbol": "MAP2K1", "hgnc": "HGNC:6840", "name": "mitogen-activated protein kinase kinase 1", "diseases": 1, "url": "https://dantelabs.com/genes/map2k1" }, { "slug": "map2k2", "symbol": "MAP2K2", "hgnc": "HGNC:6842", "name": "mitogen-activated protein kinase kinase 2", "diseases": 1, "url": "https://dantelabs.com/genes/map2k2" }, { "slug": "mdh1", "symbol": "MDH1", "hgnc": "HGNC:6970", "name": "malate dehydrogenase 1", "diseases": 1, "url": "https://dantelabs.com/genes/mdh1" }, { "slug": "mfn2", "symbol": "MFN2", "hgnc": "HGNC:16877", "name": "mitofusin 2", "diseases": 1, "url": "https://dantelabs.com/genes/mfn2" }, { "slug": "mgat2", "symbol": "MGAT2", "hgnc": "HGNC:7045", "name": "alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase", "diseases": 1, "url": "https://dantelabs.com/genes/mgat2" }, { "slug": "mocs2", "symbol": "MOCS2", "hgnc": "HGNC:7193", "name": "molybdenum cofactor synthesis 2", "diseases": 1, "url": "https://dantelabs.com/genes/mocs2" }, { "slug": "pitx3", "symbol": "PITX3", "hgnc": "HGNC:9006", "name": "paired like homeodomain 3", "diseases": 1, "url": "https://dantelabs.com/genes/pitx3" }, { "slug": "pla2g6", "symbol": "PLA2G6", "hgnc": "HGNC:9039", "name": "phospholipase A2 group VI", "diseases": 1, "url": "https://dantelabs.com/genes/pla2g6" }, { "slug": "prf1", "symbol": "PRF1", "hgnc": "HGNC:9360", "name": "perforin 1", "diseases": 1, "url": "https://dantelabs.com/genes/prf1" }, { "slug": "qdpr", "symbol": "QDPR", "hgnc": "HGNC:9752", "name": "quinoid dihydropteridine reductase", "diseases": 1, "url": "https://dantelabs.com/genes/qdpr" }, { "slug": "slc12a2", "symbol": "SLC12A2", "hgnc": "HGNC:10911", "name": "solute carrier family 12 member 2", "diseases": 1, "url": "https://dantelabs.com/genes/slc12a2" }, { "slug": "slc19a3", "symbol": "SLC19A3", "hgnc": "HGNC:16266", "name": "solute carrier family 19 member 3", "diseases": 1, "url": "https://dantelabs.com/genes/slc19a3" }, { "slug": "slc6a19", "symbol": "SLC6A19", "hgnc": "HGNC:27960", "name": "solute carrier family 6 member 19", "diseases": 1, "url": "https://dantelabs.com/genes/slc6a19" }, { "slug": "slc6a9", "symbol": "SLC6A9", "hgnc": "HGNC:11056", "name": "solute carrier family 6 member 9", "diseases": 1, "url": "https://dantelabs.com/genes/slc6a9" }, { "slug": "sox10", "symbol": "SOX10", "hgnc": "HGNC:11190", "name": "SRY-box transcription factor 10", "diseases": 1, "url": "https://dantelabs.com/genes/sox10" }, { "slug": "spop", "symbol": "SPOP", "hgnc": "HGNC:11254", "name": "speckle type BTB/POZ protein", "diseases": 1, "url": "https://dantelabs.com/genes/spop" }, { "slug": "suox", "symbol": "SUOX", "hgnc": "HGNC:11460", "name": "sulfite oxidase", "diseases": 1, "url": "https://dantelabs.com/genes/suox" }, { "slug": "unc80", "symbol": "UNC80", "hgnc": "HGNC:26582", "name": "unc-80 subunit of NALCN channel complex", "diseases": 1, "url": "https://dantelabs.com/genes/unc80" }, { "slug": "znf335", "symbol": "ZNF335", "hgnc": "HGNC:15807", "name": "zinc finger protein 335", "diseases": 1, "url": "https://dantelabs.com/genes/znf335" } ] } }