{ "url": "https://dantelabs.com/traits/myoclonus", "trait": { "bundleId": "2026.10.17-8666dff2", "release": "2026-09-01", "slug": "myoclonus", "id": "HP:0001336", "name": "Jerking", "label": "Myoclonus", "definition": "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.", "synonyms": [ "Myoclonic jerks" ], "systems": [ { "slug": "abnormality-of-the-nervous-system", "name": "Abnormality of the nervous system", "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system" } ], "broader": [ { "slug": "involuntary-movements", "name": "Involuntary movements", "url": "https://dantelabs.com/traits/involuntary-movements" } ], "narrower": [ { "slug": "limb-myoclonus", "name": "Limb myoclonus", "genes": 26, "url": "https://dantelabs.com/traits/limb-myoclonus" }, { "slug": "morning-myoclonic-jerks", "name": "Morning myoclonic jerks", "genes": 11, "url": "https://dantelabs.com/traits/morning-myoclonic-jerks" }, { "slug": "eyelid-myoclonus", "name": "Eyelid myoclonus", "genes": 10, "url": "https://dantelabs.com/traits/eyelid-myoclonus" }, { "slug": "myoclonic-spasms", "name": "Myoclonic spasms", "genes": 9, "url": "https://dantelabs.com/traits/myoclonic-spasms" }, { "slug": "erratic-myoclonus", "name": "Erratic myoclonus", "genes": 5, "url": "https://dantelabs.com/traits/erratic-myoclonus" }, { "slug": "action-myoclonus", "name": "Action myoclonus", "genes": 4, "url": "https://dantelabs.com/traits/action-myoclonus" }, { "slug": "spinal-myoclonus", "name": "Spinal myoclonus", "genes": 4, "url": "https://dantelabs.com/traits/spinal-myoclonus" }, { "slug": "cortical-myoclonus", "name": "Cortical myoclonus", "genes": 3, "url": "https://dantelabs.com/traits/cortical-myoclonus" }, { "slug": "palatal-tremor", "name": "Palatal tremor", "genes": 3, "url": "https://dantelabs.com/traits/palatal-tremor" }, { "slug": "chin-myoclonus", "name": "Chin myoclonus", "genes": 1, "url": "https://dantelabs.com/traits/chin-myoclonus" }, { "slug": "polyminimyoclonus", "name": "Polyminimyoclonus", "genes": 1, "url": "https://dantelabs.com/traits/polyminimyoclonus" } ], "genes": [ { "slug": "abcb7", "symbol": "ABCB7", "hgnc": "HGNC:48", "name": "ATP binding cassette subfamily B member 7", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/abcb7" }, { "slug": "adcy5", "symbol": "ADCY5", "hgnc": "HGNC:236", "name": "adenylate cyclase 5", "frequency": "obligate", "diseases": 4, "url": "https://dantelabs.com/genes/adcy5" }, { "slug": "afg3l2", "symbol": "AFG3L2", "hgnc": "HGNC:315", "name": "AFG3 like matrix AAA peptidase subunit 2", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/afg3l2" }, { "slug": "ahdc1", "symbol": "AHDC1", "hgnc": "HGNC:25230", "name": "AT-hook DNA binding motif containing 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ahdc1" }, { "slug": "aptx", "symbol": "APTX", "hgnc": "HGNC:15984", "name": "aprataxin", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/aptx" }, { "slug": "atp6v0a1", "symbol": "ATP6V0A1", "hgnc": "HGNC:865", "name": "ATPase H+ transporting V0 subunit a1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/atp6v0a1" }, { "slug": "cacna1b", "symbol": "CACNA1B", "hgnc": "HGNC:1389", "name": "calcium voltage-gated channel subunit alpha1 B", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/cacna1b" }, { "slug": "cars2", "symbol": "CARS2", "hgnc": "HGNC:25695", "name": "cysteinyl-tRNA synthetase 2, mitochondrial", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/cars2" }, { "slug": "ccdc88a", "symbol": "CCDC88A", "hgnc": "HGNC:25523", "name": "coiled-coil and HOOK domain protein 88A", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ccdc88a" }, { "slug": "cers1", "symbol": "CERS1", "hgnc": "HGNC:14253", "name": "ceramide synthase 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/cers1" }, { "slug": "cln5", "symbol": "CLN5", "hgnc": "HGNC:2076", "name": "CLN5 lysosomal BMP synthase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/cln5" }, { "slug": "cln8", "symbol": "CLN8", "hgnc": "HGNC:2079", "name": "CLN8 transmembrane ER and ERGIC protein", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/cln8" }, { "slug": "cnksr2", "symbol": "CNKSR2", "hgnc": "HGNC:19701", "name": "connector enhancer of kinase suppressor of Ras 2", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/cnksr2" }, { "slug": "cntn2", "symbol": "CNTN2", "hgnc": "HGNC:2172", "name": "contactin 2", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/cntn2" }, { "slug": "cog8", "symbol": "COG8", "hgnc": "HGNC:18623", "name": "component of oligomeric golgi complex 8", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/cog8" }, { "slug": "coq2", "symbol": "COQ2", "hgnc": "HGNC:25223", "name": "coenzyme Q2, polyprenyltransferase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/coq2" }, { "slug": "cstb", "symbol": "CSTB", "hgnc": "HGNC:2482", "name": "cystatin B", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/cstb" }, { "slug": "dars2", "symbol": "DARS2", "hgnc": "HGNC:25538", "name": "aspartyl-tRNA synthetase 2, mitochondrial", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/dars2" }, { "slug": "dnm1l", "symbol": "DNM1L", "hgnc": "HGNC:2973", "name": "dynamin 1L", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/dnm1l" }, { "slug": "fars2", "symbol": "FARS2", "hgnc": "HGNC:21062", "name": "phenylalanyl-tRNA synthetase 2, mitochondrial", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/fars2" }, { "slug": "flvcr1", "symbol": "FLVCR1", "hgnc": "HGNC:24682", "name": "FLVCR choline and heme transporter 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/flvcr1" }, { "slug": "gcsh", "symbol": "GCSH", "hgnc": "HGNC:4208", "name": "glycine cleavage system protein H", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/gcsh" }, { "slug": "glrb", "symbol": "GLRB", "hgnc": "HGNC:4329", "name": "glycine receptor beta", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/glrb" }, { "slug": "gosr2", "symbol": "GOSR2", "hgnc": "HGNC:4431", "name": "golgi SNAP receptor complex member 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/gosr2" }, { "slug": "grin1", "symbol": "GRIN1", "hgnc": "HGNC:4584", "name": "glutamate ionotropic receptor NMDA type subunit 1", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/grin1" }, { "slug": "gtf3c3", "symbol": "GTF3C3", "hgnc": "HGNC:4666", "name": "general transcription factor IIIC subunit 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/gtf3c3" }, { "slug": "gtpbp1", "symbol": "GTPBP1", "hgnc": "HGNC:4669", "name": "GTP binding protein 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/gtpbp1" }, { "slug": "hnrnpu", "symbol": "HNRNPU", "hgnc": "HGNC:5048", "name": "heterogeneous nuclear ribonucleoprotein U", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/hnrnpu" }, { "slug": "itpr1", "symbol": "ITPR1", "hgnc": "HGNC:6180", "name": "inositol 1,4,5-trisphosphate receptor type 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/itpr1" }, { "slug": "jkamp", "symbol": "JKAMP", "hgnc": "HGNC:20184", "name": "JNK1/MAPK8 associated membrane protein", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/jkamp" }, { "slug": "kcnc1", "symbol": "KCNC1", "hgnc": "HGNC:6233", "name": "potassium voltage-gated channel subfamily C member 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/kcnc1" }, { "slug": "kif5a", "symbol": "KIF5A", "hgnc": "HGNC:6323", "name": "kinesin family member 5A", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/kif5a" }, { "slug": "mau2", "symbol": "MAU2", "hgnc": "HGNC:29140", "name": "MAU2 sister chromatid cohesion factor", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/mau2" }, { "slug": "mdga2", "symbol": "MDGA2", "hgnc": "HGNC:19835", "name": "MAM domain containing glycosylphosphatidylinositol anchor 2", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/mdga2" }, { "slug": "mrap", "symbol": "MRAP", "hgnc": "HGNC:1304", "name": "melanocortin 2 receptor accessory protein", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/mrap" }, { "slug": "nfu1", "symbol": "NFU1", "hgnc": "HGNC:16287", "name": "NFU1 iron-sulfur cluster scaffold", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nfu1" }, { "slug": "nhlrc1", "symbol": "NHLRC1", "hgnc": "HGNC:21576", "name": "NHL repeat containing E3 ubiquitin protein ligase 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/nhlrc1" }, { "slug": "pdha1", "symbol": "PDHA1", "hgnc": "HGNC:8806", "name": "pyruvate dehydrogenase E1 subunit alpha 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pdha1" }, { "slug": "piga", "symbol": "PIGA", "hgnc": "HGNC:8957", "name": "phosphatidylinositol glycan anchor biosynthesis class A", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/piga" }, { "slug": "polr1a", "symbol": "POLR1A", "hgnc": "HGNC:17264", "name": "RNA polymerase I subunit A", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/polr1a" }, { "slug": "prnp", "symbol": "PRNP", "hgnc": "HGNC:9449", "name": "prion protein (Kanno blood group)", "frequency": "obligate", "diseases": 5, "url": "https://dantelabs.com/genes/prnp" }, { "slug": "psap", "symbol": "PSAP", "hgnc": "HGNC:9498", "name": "prosaposin", "frequency": "obligate", "diseases": 5, "url": "https://dantelabs.com/genes/psap" }, { "slug": "ptcd3", "symbol": "PTCD3", "hgnc": "HGNC:24717", "name": "pentatricopeptide repeat domain 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ptcd3" }, { "slug": "rft1", "symbol": "RFT1", "hgnc": "HGNC:30220", "name": "RFT1 glycolipid translocator homolog", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rft1" }, { "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": "rps6kc1", "symbol": "RPS6KC1", "hgnc": "HGNC:10439", "name": "ribosomal protein S6 kinase C1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rps6kc1" }, { "slug": "scarb2", "symbol": "SCARB2", "hgnc": "HGNC:1665", "name": "scavenger receptor class B member 2", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/scarb2" }, { "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": "sdhd", "symbol": "SDHD", "hgnc": "HGNC:10683", "name": "succinate dehydrogenase complex subunit D", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/sdhd" }, { "slug": "sema6b", "symbol": "SEMA6B", "hgnc": "HGNC:10739", "name": "semaphorin 6B", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/sema6b" }, { "slug": "sgce", "symbol": "SGCE", "hgnc": "HGNC:10808", "name": "sarcoglycan epsilon", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/sgce" }, { "slug": "slc25a10", "symbol": "SLC25A10", "hgnc": "HGNC:10980", "name": "solute carrier family 25 member 10", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/slc25a10" }, { "slug": "slc25a12", "symbol": "SLC25A12", "hgnc": "HGNC:10982", "name": "solute carrier family 25 member 12", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/slc25a12" }, { "slug": "slc25a19", "symbol": "SLC25A19", "hgnc": "HGNC:14409", "name": "solute carrier family 25 member 19", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/slc25a19" }, { "slug": "slc2a1", "symbol": "SLC2A1", "hgnc": "HGNC:11005", "name": "solute carrier family 2 member 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/slc2a1" }, { "slug": "slc7a6os", "symbol": "SLC7A6OS", "hgnc": "HGNC:25807", "name": "solute carrier family 7 member 6 opposite strand", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/slc7a6os" }, { "slug": "sptan1", "symbol": "SPTAN1", "hgnc": "HGNC:11273", "name": "spectrin alpha, non-erythrocytic 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/sptan1" }, { "slug": "trappc12", "symbol": "TRAPPC12", "hgnc": "HGNC:24284", "name": "trafficking protein particle complex subunit 12", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/trappc12" }, { "slug": "tsen54", "symbol": "TSEN54", "hgnc": "HGNC:27561", "name": "tRNA splicing endonuclease subunit 54", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/tsen54" }, { "slug": "uggt1", "symbol": "UGGT1", "hgnc": "HGNC:15663", "name": "UDP-glucose glycoprotein glucosyltransferase 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/uggt1" }, { "slug": "yeats2", "symbol": "YEATS2", "hgnc": "HGNC:25489", "name": "YEATS domain containing 2", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/yeats2" }, { "slug": "adra2b", "symbol": "ADRA2B", "hgnc": "HGNC:282", "name": "adrenoceptor alpha 2B", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/adra2b" }, { "slug": "app", "symbol": "APP", "hgnc": "HGNC:620", "name": "amyloid beta precursor protein", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/app" }, { "slug": "arx", "symbol": "ARX", "hgnc": "HGNC:18060", "name": "aristaless related homeobox", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/arx" }, { "slug": "asah1", "symbol": "ASAH1", "hgnc": "HGNC:735", "name": "N-acylsphingosine amidohydrolase 1", "frequency": "very-frequent", "diseases": 3, "url": "https://dantelabs.com/genes/asah1" }, { "slug": "atad1", "symbol": "ATAD1", "hgnc": "HGNC:25903", "name": "ATPase family AAA domain containing 1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/atad1" }, { "slug": "cd4", "symbol": "CD4", "hgnc": "HGNC:1678", "name": "CD4 molecule", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cd4" }, { "slug": "cdkl5", "symbol": "CDKL5", "hgnc": "HGNC:11411", "name": "cyclin dependent kinase like 5", "frequency": "very-frequent", "diseases": 3, "url": "https://dantelabs.com/genes/cdkl5" }, { "slug": "cnpy3", "symbol": "CNPY3", "hgnc": "HGNC:11968", "name": "canopy FGF signaling regulator 3", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cnpy3" }, { "slug": "ctnnd2", "symbol": "CTNND2", "hgnc": "HGNC:2516", "name": "catenin delta 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ctnnd2" }, { "slug": "drd2", "symbol": "DRD2", "hgnc": "HGNC:3023", "name": "dopamine receptor D2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/drd2" }, { "slug": "glra1", "symbol": "GLRA1", "hgnc": "HGNC:4326", "name": "glycine receptor alpha 1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/glra1" }, { "slug": "gphn", "symbol": "GPHN", "hgnc": "HGNC:15465", "name": "gephyrin", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/gphn" }, { "slug": "grin2b", "symbol": "GRIN2B", "hgnc": "HGNC:4586", "name": "glutamate ionotropic receptor NMDA type subunit 2B", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/grin2b" }, { "slug": "guf1", "symbol": "GUF1", "hgnc": "HGNC:25799", "name": "GTP binding elongation factor GUF1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/guf1" }, { "slug": "irf4", "symbol": "IRF4", "hgnc": "HGNC:6119", "name": "interferon regulatory factor 4", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/irf4" }, { "slug": "kctd17", "symbol": "KCTD17", "hgnc": "HGNC:25705", "name": "potassium channel tetramerization domain containing 17", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/kctd17" }, { "slug": "marchf6", "symbol": "MARCHF6", "hgnc": "HGNC:30550", "name": "membrane associated ring-CH-type finger 6", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/marchf6" }, { "slug": "neu1", "symbol": "NEU1", "hgnc": "HGNC:7758", "name": "neuraminidase 1", "frequency": "very-frequent", "diseases": 4, "url": "https://dantelabs.com/genes/neu1" }, { "slug": "ntrk2", "symbol": "NTRK2", "hgnc": "HGNC:8032", "name": "neurotrophic receptor tyrosine kinase 2", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ntrk2" }, { "slug": "phactr1", "symbol": "PHACTR1", "hgnc": "HGNC:20990", "name": "phosphatase and actin regulator 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/phactr1" }, { "slug": "plcb1", "symbol": "PLCB1", "hgnc": "HGNC:15917", "name": "phospholipase C beta 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/plcb1" }, { "slug": "prdm8", "symbol": "PRDM8", "hgnc": "HGNC:13993", "name": "PR/SET domain 8", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/prdm8" }, { "slug": "prickle1", "symbol": "PRICKLE1", "hgnc": "HGNC:17019", "name": "prickle planar cell polarity protein 1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/prickle1" }, { "slug": "psen1", "symbol": "PSEN1", "hgnc": "HGNC:9508", "name": "presenilin 1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/psen1" }, { "slug": "psen2", "symbol": "PSEN2", "hgnc": "HGNC:9509", "name": "presenilin 2", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/psen2" }, { "slug": "rapgef2", "symbol": "RAPGEF2", "hgnc": "HGNC:16854", "name": "Rap guanine nucleotide exchange factor 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rapgef2" }, { "slug": "samd12", "symbol": "SAMD12", "hgnc": "HGNC:31750", "name": "sterile alpha motif domain containing 12", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/samd12" }, { "slug": "scn2a", "symbol": "SCN2A", "hgnc": "HGNC:10588", "name": "sodium voltage-gated channel alpha subunit 2", "frequency": "very-frequent", "diseases": 3, "url": "https://dantelabs.com/genes/scn2a" }, { "slug": "sik1", "symbol": "SIK1", "hgnc": "HGNC:11142", "name": "salt inducible kinase 1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/sik1" }, { "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": "sorl1", "symbol": "SORL1", "hgnc": "HGNC:11185", "name": "sortilin related receptor 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sorl1" }, { "slug": "stard7", "symbol": "STARD7", "hgnc": "HGNC:18063", "name": "StAR related lipid transfer domain containing 7", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/stard7" }, { "slug": "tbc1d24", "symbol": "TBC1D24", "hgnc": "HGNC:29203", "name": "TBC1 domain family member 24", "frequency": "very-frequent", "diseases": 5, "url": "https://dantelabs.com/genes/tbc1d24" }, { "slug": "tnrc6a", "symbol": "TNRC6A", "hgnc": "HGNC:11969", "name": "trinucleotide repeat containing adaptor 6A", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tnrc6a" }, { "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": "tor1a", "symbol": "TOR1A", "hgnc": "HGNC:3098", "name": "torsin family 1 member A", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tor1a" }, { "slug": "trem2", "symbol": "TREM2", "hgnc": "HGNC:17761", "name": "triggering receptor expressed on myeloid cells 2", "frequency": "very-frequent", "diseases": 3, "url": "https://dantelabs.com/genes/trem2" }, { "slug": "wdr45", "symbol": "WDR45", "hgnc": "HGNC:28912", "name": "WD repeat domain 45", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/wdr45" }, { "slug": "ap5z1", "symbol": "AP5Z1", "hgnc": "HGNC:22197", "name": "adaptor related protein complex 5 subunit zeta 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ap5z1" }, { "slug": "apoe", "symbol": "APOE", "hgnc": "HGNC:613", "name": "apolipoprotein E", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/apoe" }, { "slug": "atn1", "symbol": "ATN1", "hgnc": "HGNC:3033", "name": "atrophin 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/atn1" }, { "slug": "atp13a2", "symbol": "ATP13A2", "hgnc": "HGNC:30213", "name": "ATPase cation transporting 13A2", "frequency": "frequent", "diseases": 3, "url": "https://dantelabs.com/genes/atp13a2" }, { "slug": "borcs8", "symbol": "BORCS8", "hgnc": "HGNC:37247", "name": "BLOC-1 related complex subunit 8", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/borcs8" }, { "slug": "bscl2", "symbol": "BSCL2", "hgnc": "HGNC:15832", "name": "BSCL2 lipid droplet biogenesis associated, seipin", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/bscl2" }, { "slug": "cacna1a", "symbol": "CACNA1A", "hgnc": "HGNC:1388", "name": "calcium voltage-gated channel subunit alpha1 A", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/cacna1a" }, { "slug": "casr", "symbol": "CASR", "hgnc": "HGNC:1514", "name": "calcium sensing receptor", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/casr" }, { "slug": "chd2", "symbol": "CHD2", "hgnc": "HGNC:1917", "name": "chromodomain helicase DNA binding protein 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/chd2" }, { "slug": "ciz1", "symbol": "CIZ1", "hgnc": "HGNC:16744", "name": "CDKN1A interacting zinc finger protein 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ciz1" }, { "slug": "cln6", "symbol": "CLN6", "hgnc": "HGNC:2077", "name": "CLN6 transmembrane ER protein", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cln6" }, { "slug": "clpb", "symbol": "CLPB", "hgnc": "HGNC:30664", "name": "ClpB family mitochondrial disaggregase", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/clpb" }, { "slug": "coq5", "symbol": "COQ5", "hgnc": "HGNC:28722", "name": "coenzyme Q5, methyltransferase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/coq5" }, { "slug": "cox4i1", "symbol": "COX4I1", "hgnc": "HGNC:2265", "name": "cytochrome c oxidase subunit 4I1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cox4i1" }, { "slug": "cplx1", "symbol": "CPLX1", "hgnc": "HGNC:2309", "name": "complexin 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cplx1" }, { "slug": "crls1", "symbol": "CRLS1", "hgnc": "HGNC:16148", "name": "cardiolipin synthase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/crls1" }, { "slug": "cux2", "symbol": "CUX2", "hgnc": "HGNC:19347", "name": "cut like homeobox 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cux2" }, { "slug": "dab1", "symbol": "DAB1", "hgnc": "HGNC:2661", "name": "DAB adaptor protein 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dab1" }, { "slug": "ddc", "symbol": "DDC", "hgnc": "HGNC:2719", "name": "dopa decarboxylase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ddc" }, { "slug": "dennd5a", "symbol": "DENND5A", "hgnc": "HGNC:19344", "name": "DENN domain containing 5A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dennd5a" }, { "slug": "dnm1", "symbol": "DNM1", "hgnc": "HGNC:2972", "name": "dynamin 1", "frequency": "frequent", "diseases": 3, "url": "https://dantelabs.com/genes/dnm1" }, { "slug": "dock7", "symbol": "DOCK7", "hgnc": "HGNC:19190", "name": "dedicator of cytokinesis 7", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/dock7" }, { "slug": "dtymk", "symbol": "DTYMK", "hgnc": "HGNC:3061", "name": "deoxythymidylate kinase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dtymk" }, { "slug": "efhc1", "symbol": "EFHC1", "hgnc": "HGNC:16406", "name": "EF-hand domain containing 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/efhc1" }, { "slug": "fbxo28", "symbol": "FBXO28", "hgnc": "HGNC:29046", "name": "F-box protein 28", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/fbxo28" }, { "slug": "fbxo7", "symbol": "FBXO7", "hgnc": "HGNC:13586", "name": "F-box protein 7", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fbxo7" }, { "slug": "fzr1", "symbol": "FZR1", "hgnc": "HGNC:24824", "name": "fizzy and cell division cycle 20 related 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/fzr1" }, { "slug": "gabra1", "symbol": "GABRA1", "hgnc": "HGNC:4075", "name": "gamma-aminobutyric acid type A receptor subunit alpha1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gabra1" }, { "slug": "gabrb3", "symbol": "GABRB3", "hgnc": "HGNC:4083", "name": "gamma-aminobutyric acid type A receptor subunit beta3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gabrb3" }, { "slug": "gabrg2", "symbol": "GABRG2", "hgnc": "HGNC:4087", "name": "gamma-aminobutyric acid type A receptor subunit gamma2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/gabrg2" }, { "slug": "gria3", "symbol": "GRIA3", "hgnc": "HGNC:4573", "name": "glutamate ionotropic receptor AMPA type subunit 3", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/gria3" }, { "slug": "grik2", "symbol": "GRIK2", "hgnc": "HGNC:4580", "name": "glutamate ionotropic receptor kainate type subunit 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/grik2" }, { "slug": "gtpbp2", "symbol": "GTPBP2", "hgnc": "HGNC:4670", "name": "GTP binding protein 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gtpbp2" }, { "slug": "hexb", "symbol": "HEXB", "hgnc": "HGNC:4879", "name": "hexosaminidase subunit beta", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hexb" }, { "slug": "htt", "symbol": "HTT", "hgnc": "HGNC:4851", "name": "huntingtin", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/htt" }, { "slug": "kcnn2", "symbol": "KCNN2", "hgnc": "HGNC:6291", "name": "potassium calcium-activated channel subfamily N member 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/kcnn2" }, { "slug": "kctd7", "symbol": "KCTD7", "hgnc": "HGNC:21957", "name": "potassium channel tetramerization domain containing 7", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kctd7" }, { "slug": "kics2", "symbol": "KICS2", "hgnc": "HGNC:26517", "name": "KICSTOR subunit 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kics2" }, { "slug": "lmnb2", "symbol": "LMNB2", "hgnc": "HGNC:6638", "name": "lamin B2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/lmnb2" }, { "slug": "mapk10", "symbol": "MAPK10", "hgnc": "HGNC:6872", "name": "mitogen-activated protein kinase 10", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mapk10" }, { "slug": "mt-co1", "symbol": "MT-CO1", "hgnc": "HGNC:7419", "name": "mitochondrially encoded cytochrome c oxidase I", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mt-co1" }, { "slug": "mt-co2", "symbol": "MT-CO2", "hgnc": "HGNC:7421", "name": "mitochondrially encoded cytochrome c oxidase II", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mt-co2" }, { "slug": "mt-co3", "symbol": "MT-CO3", "hgnc": "HGNC:7422", "name": "mitochondrially encoded cytochrome c oxidase III", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mt-co3" }, { "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-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-tf", "symbol": "MT-TF", "hgnc": "HGNC:7481", "name": "mitochondrially encoded tRNA-Phe (UUU/C)", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/mt-tf" }, { "slug": "mt-th", "symbol": "MT-TH", "hgnc": "HGNC:7487", "name": "mitochondrially encoded tRNA-His (CAU/C)", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/mt-th" }, { "slug": "mt-tl1", "symbol": "MT-TL1", "hgnc": "HGNC:7490", "name": "mitochondrially encoded tRNA-Leu (UUA/G) 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/mt-tl1" }, { "slug": "mt-tq", "symbol": "MT-TQ", "hgnc": "HGNC:7495", "name": "mitochondrially encoded tRNA-Gln (CAA/G)", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mt-tq" }, { "slug": "mt-ts1", "symbol": "MT-TS1", "hgnc": "HGNC:7497", "name": "mitochondrially encoded tRNA-Ser (UCN) 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/mt-ts1" }, { "slug": "mt-ts2", "symbol": "MT-TS2", "hgnc": "HGNC:7498", "name": "mitochondrially encoded tRNA-Ser (AGU/C) 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/mt-ts2" }, { "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": "mtpap", "symbol": "MTPAP", "hgnc": "HGNC:25532", "name": "mitochondrial poly(A) polymerase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mtpap" }, { "slug": "naga", "symbol": "NAGA", "hgnc": "HGNC:7631", "name": "alpha-N-acetylgalactosaminidase", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/naga" }, { "slug": "ndufa1", "symbol": "NDUFA1", "hgnc": "HGNC:7683", "name": "NADH:ubiquinone oxidoreductase subunit A1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ndufa1" }, { "slug": "pcdh19", "symbol": "PCDH19", "hgnc": "HGNC:14270", "name": "protocadherin 19", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pcdh19" }, { "slug": "pgm3", "symbol": "PGM3", "hgnc": "HGNC:8907", "name": "phosphoglucomutase 3", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/pgm3" }, { "slug": "pi4k2a", "symbol": "PI4K2A", "hgnc": "HGNC:30031", "name": "phosphatidylinositol 4-kinase type 2 alpha", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pi4k2a" }, { "slug": "plpbp", "symbol": "PLPBP", "hgnc": "HGNC:9457", "name": "pyridoxal phosphate binding protein", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/plpbp" }, { "slug": "pnpo", "symbol": "PNPO", "hgnc": "HGNC:30260", "name": "pyridoxamine 5'-phosphate oxidase", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/pnpo" }, { "slug": "polg", "symbol": "POLG", "hgnc": "HGNC:9179", "name": "DNA polymerase gamma, catalytic subunit", "frequency": "frequent", "diseases": 5, "url": "https://dantelabs.com/genes/polg" }, { "slug": "psat1", "symbol": "PSAT1", "hgnc": "HGNC:19129", "name": "phosphoserine aminotransferase 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/psat1" }, { "slug": "sc5d", "symbol": "SC5D", "hgnc": "HGNC:10547", "name": "sterol-C5-desaturase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sc5d" }, { "slug": "scn1a", "symbol": "SCN1A", "hgnc": "HGNC:10585", "name": "sodium voltage-gated channel alpha subunit 1", "frequency": "frequent", "diseases": 4, "url": "https://dantelabs.com/genes/scn1a" }, { "slug": "scn1b", "symbol": "SCN1B", "hgnc": "HGNC:10586", "name": "sodium voltage-gated channel beta subunit 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/scn1b" }, { "slug": "scn8a", "symbol": "SCN8A", "hgnc": "HGNC:10596", "name": "sodium voltage-gated channel alpha subunit 8", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/scn8a" }, { "slug": "scn9a", "symbol": "SCN9A", "hgnc": "HGNC:10597", "name": "sodium voltage-gated channel alpha subunit 9", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/scn9a" }, { "slug": "slc25a46", "symbol": "SLC25A46", "hgnc": "HGNC:25198", "name": "solute carrier family 25 member 46", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/slc25a46" }, { "slug": "slc2a3", "symbol": "SLC2A3", "hgnc": "HGNC:11007", "name": "solute carrier family 2 member 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/slc2a3" }, { "slug": "snca", "symbol": "SNCA", "hgnc": "HGNC:11138", "name": "synuclein alpha", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/snca" }, { "slug": "sox10", "symbol": "SOX10", "hgnc": "HGNC:11190", "name": "SRY-box transcription factor 10", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sox10" }, { "slug": "stambp", "symbol": "STAMBP", "hgnc": "HGNC:16950", "name": "STAM binding protein", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/stambp" }, { "slug": "taf1", "symbol": "TAF1", "hgnc": "HGNC:11535", "name": "TATA-box binding protein associated factor 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/taf1" }, { "slug": "th", "symbol": "TH", "hgnc": "HGNC:11782", "name": "tyrosine hydroxylase", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/th" }, { "slug": "timmdc1", "symbol": "TIMMDC1", "hgnc": "HGNC:1321", "name": "translocase of inner mitochondrial membrane domain containing 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/timmdc1" }, { "slug": "toe1", "symbol": "TOE1", "hgnc": "HGNC:15954", "name": "target of EGR1, exonuclease", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/toe1" }, { "slug": "tspoap1", "symbol": "TSPOAP1", "hgnc": "HGNC:16831", "name": "TSPO associated protein 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tspoap1" }, { "slug": "tspyl1", "symbol": "TSPYL1", "hgnc": "HGNC:12382", "name": "TSPY like 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tspyl1" }, { "slug": "twnk", "symbol": "TWNK", "hgnc": "HGNC:1160", "name": "twinkle mtDNA helicase", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/twnk" }, { "slug": "vps13d", "symbol": "VPS13D", "hgnc": "HGNC:23595", "name": "vacuolar protein sorting 13 homolog D", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/vps13d" }, { "slug": "vps53", "symbol": "VPS53", "hgnc": "HGNC:25608", "name": "VPS53 subunit of GARP complex", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/vps53" }, { "slug": "yrdc", "symbol": "YRDC", "hgnc": "HGNC:28905", "name": "yrdC N6-threonylcarbamoyltransferase domain containing", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/yrdc" }, { "slug": "aars1", "symbol": "AARS1", "hgnc": "HGNC:20", "name": "alanyl-tRNA synthetase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/aars1" }, { "slug": "actl6b", "symbol": "ACTL6B", "hgnc": "HGNC:160", "name": "actin like 6B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/actl6b" }, { "slug": "adar", "symbol": "ADAR", "hgnc": "HGNC:225", "name": "adenosine deaminase RNA specific", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/adar" }, { "slug": "aff3", "symbol": "AFF3", "hgnc": "HGNC:6473", "name": "ALF transcription elongation factor 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/aff3" }, { "slug": "akt3", "symbol": "AKT3", "hgnc": "HGNC:393", "name": "AKT serine/threonine kinase 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/akt3" }, { "slug": "ano3", "symbol": "ANO3", "hgnc": "HGNC:14004", "name": "anoctamin 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ano3" }, { "slug": "ap2m1", "symbol": "AP2M1", "hgnc": "HGNC:564", "name": "adaptor related protein complex 2 subunit mu 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ap2m1" }, { "slug": "ap3b2", "symbol": "AP3B2", "hgnc": "HGNC:567", "name": "adaptor related protein complex 3 subunit beta 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ap3b2" }, { "slug": "atp1a2", "symbol": "ATP1A2", "hgnc": "HGNC:800", "name": "ATPase Na+/K+ transporting subunit alpha 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/atp1a2" }, { "slug": "atp1a3", "symbol": "ATP1A3", "hgnc": "HGNC:801", "name": "ATPase Na+/K+ transporting subunit alpha 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/atp1a3" }, { "slug": "atp6v1a", "symbol": "ATP6V1A", "hgnc": "HGNC:851", "name": "ATPase H+ transporting V1 subunit A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/atp6v1a" }, { "slug": "atp6v1b2", "symbol": "ATP6V1B2", "hgnc": "HGNC:854", "name": "ATPase H+ transporting V1 subunit B2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/atp6v1b2" }, { "slug": "bola3", "symbol": "BOLA3", "hgnc": "HGNC:24415", "name": "bolA family member 3", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/bola3" }, { "slug": "cacna1e", "symbol": "CACNA1E", "hgnc": "HGNC:1392", "name": "calcium voltage-gated channel subunit alpha1 E", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/cacna1e" }, { "slug": "cacna2d1", "symbol": "CACNA2D1", "hgnc": "HGNC:1399", "name": "calcium voltage-gated channel auxiliary subunit alpha2delta 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cacna2d1" }, { "slug": "cacnb4", "symbol": "CACNB4", "hgnc": "HGNC:1404", "name": "calcium voltage-gated channel auxiliary subunit beta 4", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/cacnb4" }, { "slug": "cask", "symbol": "CASK", "hgnc": "HGNC:1497", "name": "calcium/calmodulin dependent serine protein kinase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cask" }, { "slug": "cdk19", "symbol": "CDK19", "hgnc": "HGNC:19338", "name": "cyclin dependent kinase 19", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cdk19" }, { "slug": "celf2", "symbol": "CELF2", "hgnc": "HGNC:2550", "name": "CUGBP Elav-like family member 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/celf2" }, { "slug": "cic", "symbol": "CIC", "hgnc": "HGNC:14214", "name": "capicua transcriptional repressor", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cic" }, { "slug": "clcn4", "symbol": "CLCN4", "hgnc": "HGNC:2022", "name": "Cl-/H+ antiporter 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/clcn4" }, { "slug": "cltc", "symbol": "CLTC", "hgnc": "HGNC:2092", "name": "clathrin heavy chain", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/cltc" }, { "slug": "coq8a", "symbol": "COQ8A", "hgnc": "HGNC:16812", "name": "coenzyme Q8A", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/coq8a" }, { "slug": "coxfa4", "symbol": "COXFA4", "hgnc": "HGNC:7687", "name": "cytochrome c oxidase associated subunit FA4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/coxfa4" }, { "slug": "creld1", "symbol": "CRELD1", "hgnc": "HGNC:14630", "name": "CRELD disulfide isomerase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/creld1" }, { "slug": "cyfip2", "symbol": "CYFIP2", "hgnc": "HGNC:13760", "name": "cytoplasmic FMR1 interacting protein 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cyfip2" }, { "slug": "dalrd3", "symbol": "DALRD3", "hgnc": "HGNC:25536", "name": "DALR anticodon binding domain containing 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dalrd3" }, { "slug": "depdc5", "symbol": "DEPDC5", "hgnc": "HGNC:18423", "name": "DEP domain containing 5, GATOR1 subcomplex subunit", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/depdc5" }, { "slug": "dhdds", "symbol": "DHDDS", "hgnc": "HGNC:20603", "name": "dehydrodolichyl diphosphate synthase subunit", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dhdds" }, { "slug": "dmxl2", "symbol": "DMXL2", "hgnc": "HGNC:2938", "name": "Dmx like 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dmxl2" }, { "slug": "dnajc6", "symbol": "DNAJC6", "hgnc": "HGNC:15469", "name": "DnaJ heat shock protein family (Hsp40) member C6", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dnajc6" }, { "slug": "eef1a2", "symbol": "EEF1A2", "hgnc": "HGNC:3192", "name": "eukaryotic translation elongation factor 1 alpha 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/eef1a2" }, { "slug": "eif2ak2", "symbol": "EIF2AK2", "hgnc": "HGNC:9437", "name": "eukaryotic translation initiation factor 2 alpha kinase 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/eif2ak2" }, { "slug": "epm2a", "symbol": "EPM2A", "hgnc": "HGNC:3413", "name": "EPM2A glucan phosphatase, laforin", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/epm2a" }, { "slug": "fgf12", "symbol": "FGF12", "hgnc": "HGNC:3668", "name": "fibroblast growth factor 12", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fgf12" }, { "slug": "foxg1", "symbol": "FOXG1", "hgnc": "HGNC:3811", "name": "forkhead box G1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/foxg1" }, { "slug": "frmd5", "symbol": "FRMD5", "hgnc": "HGNC:28214", "name": "FERM domain containing 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/frmd5" }, { "slug": "frrs1l", "symbol": "FRRS1L", "hgnc": "HGNC:1362", "name": "ferric chelate reductase 1 like", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/frrs1l" }, { "slug": "gabbr2", "symbol": "GABBR2", "hgnc": "HGNC:4507", "name": "gamma-aminobutyric acid type B receptor subunit 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gabbr2" }, { "slug": "gabra2", "symbol": "GABRA2", "hgnc": "HGNC:4076", "name": "gamma-aminobutyric acid type A receptor subunit alpha2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gabra2" }, { "slug": "gabra5", "symbol": "GABRA5", "hgnc": "HGNC:4079", "name": "gamma-aminobutyric acid type A receptor subunit alpha5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gabra5" }, { "slug": "gabrb2", "symbol": "GABRB2", "hgnc": "HGNC:4082", "name": "gamma-aminobutyric acid type A receptor subunit beta2", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/gabrb2" }, { "slug": "galc", "symbol": "GALC", "hgnc": "HGNC:4115", "name": "galactosylceramidase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/galc" }, { "slug": "glrx5", "symbol": "GLRX5", "hgnc": "HGNC:20134", "name": "glutaredoxin 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/glrx5" }, { "slug": "glyctk", "symbol": "GLYCTK", "hgnc": "HGNC:24247", "name": "glycerate kinase", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/glyctk" }, { "slug": "gnao1", "symbol": "GNAO1", "hgnc": "HGNC:4389", "name": "G protein subunit alpha o1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gnao1" }, { "slug": "gnb1", "symbol": "GNB1", "hgnc": "HGNC:4396", "name": "G protein subunit beta 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gnb1" }, { "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": "grin2d", "symbol": "GRIN2D", "hgnc": "HGNC:4588", "name": "glutamate ionotropic receptor NMDA type subunit 2D", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/grin2d" }, { "slug": "grm7", "symbol": "GRM7", "hgnc": "HGNC:4599", "name": "glutamate metabotropic receptor 7", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/grm7" }, { "slug": "hcn1", "symbol": "HCN1", "hgnc": "HGNC:4845", "name": "hyperpolarization activated cyclic nucleotide gated potassium channel 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/hcn1" }, { "slug": "hmgcl", "symbol": "HMGCL", "hgnc": "HGNC:5005", "name": "3-hydroxy-3-methylglutaryl-CoA lyase", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/hmgcl" }, { "slug": "inpp4a", "symbol": "INPP4A", "hgnc": "HGNC:6074", "name": "inositol polyphosphate-4-phosphatase type I A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/inpp4a" }, { "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": "kcna2", "symbol": "KCNA2", "hgnc": "HGNC:6220", "name": "potassium voltage-gated channel subfamily A member 2", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/kcna2" }, { "slug": "kcnb1", "symbol": "KCNB1", "hgnc": "HGNC:6231", "name": "potassium voltage-gated channel subfamily B member 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kcnb1" }, { "slug": "kcnc2", "symbol": "KCNC2", "hgnc": "HGNC:6234", "name": "potassium voltage-gated channel subfamily C member 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kcnc2" }, { "slug": "kcnc3", "symbol": "KCNC3", "hgnc": "HGNC:6235", "name": "potassium voltage-gated channel subfamily C member 3", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/kcnc3" }, { "slug": "kcnh5", "symbol": "KCNH5", "hgnc": "HGNC:6254", "name": "potassium voltage-gated channel subfamily H member 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kcnh5" }, { "slug": "kmt2b", "symbol": "KMT2B", "hgnc": "HGNC:15840", "name": "lysine methyltransferase 2B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kmt2b" }, { "slug": "lgi1", "symbol": "LGI1", "hgnc": "HGNC:6572", "name": "leucine rich glioma inactivated 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lgi1" }, { "slug": "lig3", "symbol": "LIG3", "hgnc": "HGNC:6600", "name": "DNA ligase 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lig3" }, { "slug": "mecr", "symbol": "MECR", "hgnc": "HGNC:19691", "name": "mitochondrial trans-2-enoyl-CoA reductase", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/mecr" }, { "slug": "mre11", "symbol": "MRE11", "hgnc": "HGNC:7230", "name": "MRE11 double strand break repair nuclease", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mre11" }, { "slug": "mt-atp6", "symbol": "MT-ATP6", "hgnc": "HGNC:7414", "name": "mitochondrially encoded ATP synthase membrane subunit 6", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mt-atp6" }, { "slug": "mtor", "symbol": "MTOR", "hgnc": "HGNC:3942", "name": "mechanistic target of rapamycin kinase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mtor" }, { "slug": "nars1", "symbol": "NARS1", "hgnc": "HGNC:7643", "name": "asparaginyl-tRNA synthetase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nars1" }, { "slug": "naxd", "symbol": "NAXD", "hgnc": "HGNC:25576", "name": "NAD(P)HX dehydratase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/naxd" }, { "slug": "naxe", "symbol": "NAXE", "hgnc": "HGNC:18453", "name": "NAD(P)HX epimerase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/naxe" }, { "slug": "ndufaf3", "symbol": "NDUFAF3", "hgnc": "HGNC:29918", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ndufaf3" }, { "slug": "necap1", "symbol": "NECAP1", "hgnc": "HGNC:24539", "name": "NECAP endocytosis associated 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/necap1" }, { "slug": "neurod2", "symbol": "NEUROD2", "hgnc": "HGNC:7763", "name": "neuronal differentiation 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/neurod2" }, { "slug": "ngly1", "symbol": "NGLY1", "hgnc": "HGNC:17646", "name": "N-glycanase 1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/ngly1" }, { "slug": "nkx2-1", "symbol": "NKX2-1", "hgnc": "HGNC:11825", "name": "NK2 homeobox 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nkx2-1" }, { "slug": "nptx1", "symbol": "NPTX1", "hgnc": "HGNC:7952", "name": "neuronal pentraxin 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nptx1" }, { "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": "nus1", "symbol": "NUS1", "hgnc": "HGNC:21042", "name": "NUS1 dehydrodolichyl diphosphate synthase subunit", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nus1" }, { "slug": "oca2", "symbol": "OCA2", "hgnc": "HGNC:8101", "name": "OCA2 melanosomal transmembrane protein", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/oca2" }, { "slug": "pacs2", "symbol": "PACS2", "hgnc": "HGNC:23794", "name": "phosphofurin acidic cluster sorting protein 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pacs2" }, { "slug": "pars2", "symbol": "PARS2", "hgnc": "HGNC:30563", "name": "prolyl-tRNA synthetase 2, mitochondrial", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pars2" }, { "slug": "pet100", "symbol": "PET100", "hgnc": "HGNC:40038", "name": "PET100 cytochrome c oxidase chaperone", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pet100" }, { "slug": "pgap2", "symbol": "PGAP2", "hgnc": "HGNC:17893", "name": "post-GPI attachment to proteins 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pgap2" }, { "slug": "pgap3", "symbol": "PGAP3", "hgnc": "HGNC:23719", "name": "post-GPI attachment to proteins phospholipase 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pgap3" }, { "slug": "pigl", "symbol": "PIGL", "hgnc": "HGNC:8966", "name": "phosphatidylinositol glycan anchor biosynthesis class L", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pigl" }, { "slug": "pigo", "symbol": "PIGO", "hgnc": "HGNC:23215", "name": "phosphatidylinositol glycan anchor biosynthesis class O", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pigo" }, { "slug": "pigp", "symbol": "PIGP", "hgnc": "HGNC:3046", "name": "phosphatidylinositol glycan anchor biosynthesis class P", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pigp" }, { "slug": "pigq", "symbol": "PIGQ", "hgnc": "HGNC:14135", "name": "phosphatidylinositol glycan anchor biosynthesis class Q", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pigq" }, { "slug": "pigv", "symbol": "PIGV", "hgnc": "HGNC:26031", "name": "phosphatidylinositol glycan anchor biosynthesis class V", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pigv" }, { "slug": "pigw", "symbol": "PIGW", "hgnc": "HGNC:23213", "name": "phosphatidylinositol glycan anchor biosynthesis class W", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pigw" }, { "slug": "pigy", "symbol": "PIGY", "hgnc": "HGNC:28213", "name": "phosphatidylinositol glycan anchor biosynthesis class Y", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pigy" }, { "slug": "pik3ca", "symbol": "PIK3CA", "hgnc": "HGNC:8975", "name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pik3ca" }, { "slug": "pla2g6", "symbol": "PLA2G6", "hgnc": "HGNC:9039", "name": "phospholipase A2 group VI", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pla2g6" }, { "slug": "pnkp", "symbol": "PNKP", "hgnc": "HGNC:9154", "name": "polynucleotide kinase 3'-phosphatase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pnkp" }, { "slug": "podxl", "symbol": "PODXL", "hgnc": "HGNC:9171", "name": "podocalyxin like", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/podxl" }, { "slug": "polr1c", "symbol": "POLR1C", "hgnc": "HGNC:20194", "name": "RNA polymerase I and III subunit C", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/polr1c" }, { "slug": "ppfia3", "symbol": "PPFIA3", "hgnc": "HGNC:9247", "name": "PPFI scaffold protein A3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ppfia3" }, { "slug": "ppp3ca", "symbol": "PPP3CA", "hgnc": "HGNC:9314", "name": "protein phosphatase 3 catalytic subunit alpha", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ppp3ca" }, { "slug": "prkcg", "symbol": "PRKCG", "hgnc": "HGNC:9402", "name": "protein kinase C gamma", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/prkcg" }, { "slug": "pts", "symbol": "PTS", "hgnc": "HGNC:9689", "name": "6-pyruvoyltetrahydropterin synthase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pts" }, { "slug": "pura", "symbol": "PURA", "hgnc": "HGNC:9701", "name": "purine rich element binding protein A", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/pura" }, { "slug": "rbmx", "symbol": "RBMX", "hgnc": "HGNC:9910", "name": "RNA binding motif protein X-linked", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rbmx" }, { "slug": "rhobtb2", "symbol": "RHOBTB2", "hgnc": "HGNC:18756", "name": "Rho related BTB domain containing 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rhobtb2" }, { "slug": "rmnd1", "symbol": "RMND1", "hgnc": "HGNC:21176", "name": "required for meiotic nuclear division 1 homolog", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rmnd1" }, { "slug": "satb1", "symbol": "SATB1", "hgnc": "HGNC:10541", "name": "SATB homeobox 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/satb1" }, { "slug": "scn3a", "symbol": "SCN3A", "hgnc": "HGNC:10590", "name": "sodium voltage-gated channel alpha subunit 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/scn3a" }, { "slug": "slc13a5", "symbol": "SLC13A5", "hgnc": "HGNC:23089", "name": "solute carrier family 13 member 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/slc13a5" }, { "slug": "slc1a2", "symbol": "SLC1A2", "hgnc": "HGNC:10940", "name": "solute carrier family 1 member 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/slc1a2" }, { "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": "slc32a1", "symbol": "SLC32A1", "hgnc": "HGNC:11018", "name": "solute carrier family 32 member 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/slc32a1" }, { "slug": "slc38a3", "symbol": "SLC38A3", "hgnc": "HGNC:18044", "name": "solute carrier family 38 member 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/slc38a3" }, { "slug": "sms", "symbol": "SMS", "hgnc": "HGNC:11123", "name": "spermine synthase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sms" }, { "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": "syngap1", "symbol": "SYNGAP1", "hgnc": "HGNC:11497", "name": "synaptic Ras GTPase activating protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/syngap1" }, { "slug": "synj1", "symbol": "SYNJ1", "hgnc": "HGNC:11503", "name": "synaptojanin 1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/synj1" }, { "slug": "szt2", "symbol": "SZT2", "hgnc": "HGNC:29040", "name": "SZT2 subunit of KICSTOR complex", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/szt2" }, { "slug": "tefm", "symbol": "TEFM", "hgnc": "HGNC:26223", "name": "transcription elongation factor, mitochondrial", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tefm" }, { "slug": "thap1", "symbol": "THAP1", "hgnc": "HGNC:20856", "name": "THAP domain containing 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/thap1" }, { "slug": "thap11", "symbol": "THAP11", "hgnc": "HGNC:23194", "name": "THAP domain containing 11", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/thap11" }, { "slug": "trak1", "symbol": "TRAK1", "hgnc": "HGNC:29947", "name": "trafficking kinesin protein 1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/trak1" }, { "slug": "trim8", "symbol": "TRIM8", "hgnc": "HGNC:15579", "name": "tripartite motif containing 8", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/trim8" }, { "slug": "uba5", "symbol": "UBA5", "hgnc": "HGNC:23230", "name": "ubiquitin like modifier activating enzyme 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/uba5" }, { "slug": "ube3a", "symbol": "UBE3A", "hgnc": "HGNC:12496", "name": "ubiquitin protein ligase E3A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ube3a" }, { "slug": "ufc1", "symbol": "UFC1", "hgnc": "HGNC:26941", "name": "ubiquitin-fold modifier conjugating enzyme 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ufc1" }, { "slug": "ufsp2", "symbol": "UFSP2", "hgnc": "HGNC:25640", "name": "UFM1 specific peptidase 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ufsp2" }, { "slug": "vps41", "symbol": "VPS41", "hgnc": "HGNC:12713", "name": "VPS41 subunit of HOPS complex", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/vps41" }, { "slug": "ywhag", "symbol": "YWHAG", "hgnc": "HGNC:12852", "name": "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ywhag" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "hgnc": "HGNC:403", "name": "aldehyde dehydrogenase 3 family member A2", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/aldh3a2" }, { "slug": "alk", "symbol": "ALK", "hgnc": "HGNC:427", "name": "ALK receptor tyrosine kinase", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/alk" }, { "slug": "hace1", "symbol": "HACE1", "hgnc": "HGNC:21033", "name": "HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/hace1" }, { "slug": "lin28b", "symbol": "LIN28B", "hgnc": "HGNC:32207", "name": "lin-28 RNA binding posttranscriptional regulator B", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/lin28b" }, { "slug": "lmo1", "symbol": "LMO1", "hgnc": "HGNC:6641", "name": "LIM domain only 1", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/lmo1" }, { "slug": "mycn", "symbol": "MYCN", "hgnc": "HGNC:7559", "name": "MYCN proto-oncogene, bHLH transcription factor", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/mycn" }, { "slug": "phox2b", "symbol": "PHOX2B", "hgnc": "HGNC:9143", "name": "paired like homeobox 2B", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/phox2b" }, { "slug": "adsl", "symbol": "ADSL", "hgnc": "HGNC:291", "name": "adenylosuccinate lyase", "diseases": 1, "url": "https://dantelabs.com/genes/adsl" }, { "slug": "atm", "symbol": "ATM", "hgnc": "HGNC:795", "name": "ATM serine/threonine kinase", "diseases": 1, "url": "https://dantelabs.com/genes/atm" }, { "slug": "atxn2", "symbol": "ATXN2", "hgnc": "HGNC:10555", "name": "ataxin 2", "diseases": 1, "url": "https://dantelabs.com/genes/atxn2" }, { "slug": "chmp2b", "symbol": "CHMP2B", "hgnc": "HGNC:24537", "name": "charged multivesicular body protein 2B", "diseases": 1, "url": "https://dantelabs.com/genes/chmp2b" }, { "slug": "cln3", "symbol": "CLN3", "hgnc": "HGNC:2074", "name": "CLN3 lysosomal/endosomal transmembrane protein, battenin", "diseases": 1, "url": "https://dantelabs.com/genes/cln3" }, { "slug": "ctsf", "symbol": "CTSF", "hgnc": "HGNC:2531", "name": "cathepsin F", "diseases": 1, "url": "https://dantelabs.com/genes/ctsf" }, { "slug": "dnajc5", "symbol": "DNAJC5", "hgnc": "HGNC:16235", "name": "DnaJ heat shock protein family (Hsp40) member C5", "diseases": 1, "url": "https://dantelabs.com/genes/dnajc5" }, { "slug": "foxred1", "symbol": "FOXRED1", "hgnc": "HGNC:26927", "name": "FAD dependent oxidoreductase domain containing 1", "diseases": 1, "url": "https://dantelabs.com/genes/foxred1" }, { "slug": "gamt", "symbol": "GAMT", "hgnc": "HGNC:4136", "name": "guanidinoacetate N-methyltransferase", "diseases": 1, "url": "https://dantelabs.com/genes/gamt" }, { "slug": "gba1", "symbol": "GBA1", "hgnc": "HGNC:4177", "name": "glucosylceramidase beta 1", "diseases": 1, "url": "https://dantelabs.com/genes/gba1" }, { "slug": "gldc", "symbol": "GLDC", "hgnc": "HGNC:4313", "name": "glycine decarboxylase", "diseases": 1, "url": "https://dantelabs.com/genes/gldc" }, { "slug": "hibch", "symbol": "HIBCH", "hgnc": "HGNC:4908", "name": "3-hydroxyisobutyryl-CoA hydrolase", "diseases": 1, "url": "https://dantelabs.com/genes/hibch" }, { "slug": "hla-dqb1", "symbol": "HLA-DQB1", "hgnc": "HGNC:4944", "name": "major histocompatibility complex, class II, DQ beta 1", "diseases": 1, "url": "https://dantelabs.com/genes/hla-dqb1" }, { "slug": "kcnd3", "symbol": "KCND3", "hgnc": "HGNC:6239", "name": "potassium voltage-gated channel subfamily D member 3", "diseases": 1, "url": "https://dantelabs.com/genes/kcnd3" }, { "slug": "kif1b", "symbol": "KIF1B", "hgnc": "HGNC:16636", "name": "kinesin family member 1B", "diseases": 1, "url": "https://dantelabs.com/genes/kif1b" }, { "slug": "lias", "symbol": "LIAS", "hgnc": "HGNC:16429", "name": "lipoic acid synthetase", "diseases": 1, "url": "https://dantelabs.com/genes/lias" }, { "slug": "mecp2", "symbol": "MECP2", "hgnc": "HGNC:6990", "name": "methyl-CpG binding protein 2", "diseases": 1, "url": "https://dantelabs.com/genes/mecp2" }, { "slug": "mt-ti", "symbol": "MT-TI", "hgnc": "HGNC:7488", "name": "mitochondrially encoded tRNA-Ile (AUU/C)", "diseases": 1, "url": "https://dantelabs.com/genes/mt-ti" }, { "slug": "mt-tk", "symbol": "MT-TK", "hgnc": "HGNC:7489", "name": "mitochondrially encoded tRNA-Lys (AAA/G)", "diseases": 1, "url": "https://dantelabs.com/genes/mt-tk" }, { "slug": "mt-tp", "symbol": "MT-TP", "hgnc": "HGNC:7494", "name": "mitochondrially encoded tRNA-Pro (CCN)", "diseases": 1, "url": "https://dantelabs.com/genes/mt-tp" }, { "slug": "ndufv1", "symbol": "NDUFV1", "hgnc": "HGNC:7716", "name": "NADH:ubiquinone oxidoreductase core subunit V1", "diseases": 1, "url": "https://dantelabs.com/genes/ndufv1" }, { "slug": "nfasc", "symbol": "NFASC", "hgnc": "HGNC:29866", "name": "neurofascin", "diseases": 1, "url": "https://dantelabs.com/genes/nfasc" }, { "slug": "nol3", "symbol": "NOL3", "hgnc": "HGNC:7869", "name": "nucleolar protein 3", "diseases": 1, "url": "https://dantelabs.com/genes/nol3" }, { "slug": "nup214", "symbol": "NUP214", "hgnc": "HGNC:8064", "name": "nucleoporin 214", "diseases": 1, "url": "https://dantelabs.com/genes/nup214" }, { "slug": "pomgnt1", "symbol": "POMGNT1", "hgnc": "HGNC:19139", "name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)", "diseases": 1, "url": "https://dantelabs.com/genes/pomgnt1" }, { "slug": "ppt1", "symbol": "PPT1", "hgnc": "HGNC:9325", "name": "palmitoyl-protein thioesterase 1", "diseases": 1, "url": "https://dantelabs.com/genes/ppt1" }, { "slug": "qdpr", "symbol": "QDPR", "hgnc": "HGNC:9752", "name": "quinoid dihydropteridine reductase", "diseases": 1, "url": "https://dantelabs.com/genes/qdpr" }, { "slug": "rorb", "symbol": "RORB", "hgnc": "HGNC:10259", "name": "RAR related orphan receptor B", "diseases": 1, "url": "https://dantelabs.com/genes/rorb" }, { "slug": "sdha", "symbol": "SDHA", "hgnc": "HGNC:10680", "name": "succinate dehydrogenase complex flavoprotein subunit A", "diseases": 1, "url": "https://dantelabs.com/genes/sdha" }, { "slug": "serpini1", "symbol": "SERPINI1", "hgnc": "HGNC:8943", "name": "serpin family I member 1", "diseases": 1, "url": "https://dantelabs.com/genes/serpini1" }, { "slug": "st3gal5", "symbol": "ST3GAL5", "hgnc": "HGNC:10872", "name": "ST3 beta-galactoside alpha-2,3-sialyltransferase 5", "diseases": 1, "url": "https://dantelabs.com/genes/st3gal5" }, { "slug": "tbp", "symbol": "TBP", "hgnc": "HGNC:11588", "name": "TATA-box binding protein", "diseases": 1, "url": "https://dantelabs.com/genes/tbp" }, { "slug": "tpp1", "symbol": "TPP1", "hgnc": "HGNC:2073", "name": "tripeptidyl peptidase 1", "diseases": 1, "url": "https://dantelabs.com/genes/tpp1" }, { "slug": "tyrobp", "symbol": "TYROBP", "hgnc": "HGNC:12449", "name": "transmembrane immune signaling adaptor TYROBP", "diseases": 1, "url": "https://dantelabs.com/genes/tyrobp" }, { "slug": "znhit3", "symbol": "ZNHIT3", "hgnc": "HGNC:12309", "name": "zinc finger HIT-type containing 3", "diseases": 1, "url": "https://dantelabs.com/genes/znhit3" } ] } }