{ "url": "https://dantelabs.com/traits/cognitive-impairment", "trait": { "bundleId": "2026.10.17-8666dff2", "release": "2026-09-01", "slug": "cognitive-impairment", "id": "HP:0100543", "name": "Cognitive impairment", "definition": "Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.", "synonyms": [ "Abnormality of cognition", "Cognitive abnormality", "Cognitive defects", "Cognitive deficits", "Intellectual impairment" ], "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": "abnormality-of-mental-function", "name": "Abnormality of mental function", "url": "https://dantelabs.com/traits/abnormality-of-mental-function" } ], "narrower": [ { "slug": "mental-deterioration", "name": "Mental deterioration", "genes": 189, "url": "https://dantelabs.com/traits/mental-deterioration" }, { "slug": "memory-impairment", "name": "Memory impairment", "genes": 153, "url": "https://dantelabs.com/traits/memory-impairment" }, { "slug": "confusion", "name": "Confusion", "genes": 72, "url": "https://dantelabs.com/traits/confusion" }, { "slug": "reduced-attention-regulation", "name": "Reduced attention regulation", "genes": 2, "url": "https://dantelabs.com/traits/reduced-attention-regulation" } ], "genes": [ { "slug": "abcb7", "symbol": "ABCB7", "hgnc": "HGNC:48", "name": "ATP binding cassette subfamily B member 7", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/abcb7" }, { "slug": "coa3", "symbol": "COA3", "hgnc": "HGNC:24990", "name": "cytochrome c oxidase assembly factor 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/coa3" }, { "slug": "eefsec", "symbol": "EEFSEC", "hgnc": "HGNC:24614", "name": "eukaryotic elongation factor, selenocysteine-tRNA specific", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/eefsec" }, { "slug": "gbe1", "symbol": "GBE1", "hgnc": "HGNC:4180", "name": "1,4-alpha-glucan branching enzyme 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/gbe1" }, { "slug": "kars1", "symbol": "KARS1", "hgnc": "HGNC:6215", "name": "lysyl-tRNA synthetase 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/kars1" }, { "slug": "lztfl1", "symbol": "LZTFL1", "hgnc": "HGNC:6741", "name": "leucine zipper transcription factor like 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/lztfl1" }, { "slug": "nit1", "symbol": "NIT1", "hgnc": "HGNC:7828", "name": "nitrilase 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nit1" }, { "slug": "notch3", "symbol": "NOTCH3", "hgnc": "HGNC:7883", "name": "notch receptor 3", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/notch3" }, { "slug": "nsd1", "symbol": "NSD1", "hgnc": "HGNC:14234", "name": "nuclear receptor binding SET domain protein 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nsd1" }, { "slug": "plaa", "symbol": "PLAA", "hgnc": "HGNC:9043", "name": "phospholipase A2 activating protein", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/plaa" }, { "slug": "sqstm1", "symbol": "SQSTM1", "hgnc": "HGNC:11280", "name": "sequestosome 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/sqstm1" }, { "slug": "atp13a2", "symbol": "ATP13A2", "hgnc": "HGNC:30213", "name": "ATPase cation transporting 13A2", "frequency": "very-frequent", "diseases": 3, "url": "https://dantelabs.com/genes/atp13a2" }, { "slug": "atr", "symbol": "ATR", "hgnc": "HGNC:882", "name": "ATR checkpoint kinase", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/atr" }, { "slug": "atrip", "symbol": "ATRIP", "hgnc": "HGNC:33499", "name": "ATR interacting protein", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/atrip" }, { "slug": "b3galnt2", "symbol": "B3GALNT2", "hgnc": "HGNC:28596", "name": "beta-1,3-N-acetylgalactosaminyltransferase 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/b3galnt2" }, { "slug": "brpf1", "symbol": "BRPF1", "hgnc": "HGNC:14255", "name": "bromodomain and PHD finger containing 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/brpf1" }, { "slug": "bscl2", "symbol": "BSCL2", "hgnc": "HGNC:15832", "name": "BSCL2 lipid droplet biogenesis associated, seipin", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bscl2" }, { "slug": "cenpe", "symbol": "CENPE", "hgnc": "HGNC:1856", "name": "centromere protein E", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cenpe" }, { "slug": "cep152", "symbol": "CEP152", "hgnc": "HGNC:29298", "name": "centrosomal protein 152", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cep152" }, { "slug": "cep295", "symbol": "CEP295", "hgnc": "HGNC:29366", "name": "centrosomal protein 295", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cep295" }, { "slug": "cep63", "symbol": "CEP63", "hgnc": "HGNC:25815", "name": "centrosomal protein 63", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cep63" }, { "slug": "chchd10", "symbol": "CHCHD10", "hgnc": "HGNC:15559", "name": "coiled-coil-helix-coiled-coil-helix domain containing 10", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/chchd10" }, { "slug": "coasy", "symbol": "COASY", "hgnc": "HGNC:29932", "name": "Coenzyme A synthase", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/coasy" }, { "slug": "cpap", "symbol": "CPAP", "hgnc": "HGNC:17272", "name": "centrosome assembly and centriole elongation protein", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cpap" }, { "slug": "crppa", "symbol": "CRPPA", "hgnc": "HGNC:37276", "name": "CDP-L-ribitol pyrophosphorylase A", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/crppa" }, { "slug": "dcx", "symbol": "DCX", "hgnc": "HGNC:2714", "name": "doublecortin", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dcx" }, { "slug": "ddb2", "symbol": "DDB2", "hgnc": "HGNC:2718", "name": "damage specific DNA binding protein 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ddb2" }, { "slug": "dmd", "symbol": "DMD", "hgnc": "HGNC:2928", "name": "dystrophin", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dmd" }, { "slug": "dna2", "symbol": "DNA2", "hgnc": "HGNC:2939", "name": "DNA replication helicase/nuclease 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dna2" }, { "slug": "ercc2", "symbol": "ERCC2", "hgnc": "HGNC:3434", "name": "ERCC excision repair 2, TFIIH core complex helicase subunit", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ercc2" }, { "slug": "ercc3", "symbol": "ERCC3", "hgnc": "HGNC:3435", "name": "ERCC excision repair 3, TFIIH core complex helicase subunit", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ercc3" }, { "slug": "ercc4", "symbol": "ERCC4", "hgnc": "HGNC:3436", "name": "ERCC excision repair 4, endonuclease catalytic subunit", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ercc4" }, { "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": "fas", "symbol": "FAS", "hgnc": "HGNC:11920", "name": "Fas cell surface death receptor", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fas" }, { "slug": "fgfr3", "symbol": "FGFR3", "hgnc": "HGNC:3690", "name": "fibroblast growth factor receptor 3", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fgfr3" }, { "slug": "fkrp", "symbol": "FKRP", "hgnc": "HGNC:17997", "name": "fukutin related protein", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fkrp" }, { "slug": "fktn", "symbol": "FKTN", "hgnc": "HGNC:3622", "name": "fukutin", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fktn" }, { "slug": "ftl", "symbol": "FTL", "hgnc": "HGNC:3999", "name": "ferritin light chain", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ftl" }, { "slug": "gatm", "symbol": "GATM", "hgnc": "HGNC:4175", "name": "glycine amidinotransferase", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gatm" }, { "slug": "gm2a", "symbol": "GM2A", "hgnc": "HGNC:4367", "name": "ganglioside GM2 activator", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gm2a" }, { "slug": "gmppb", "symbol": "GMPPB", "hgnc": "HGNC:22932", "name": "GDP-mannose pyrophosphorylase B", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/gmppb" }, { "slug": "gon7", "symbol": "GON7", "hgnc": "HGNC:20356", "name": "GON7 subunit of KEOPS complex", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gon7" }, { "slug": "hla-b", "symbol": "HLA-B", "hgnc": "HGNC:4932", "name": "major histocompatibility complex, class I, B", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hla-b" }, { "slug": "hla-drb1", "symbol": "HLA-DRB1", "hgnc": "HGNC:4948", "name": "major histocompatibility complex, class II, DR beta 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hla-drb1" }, { "slug": "itpr1", "symbol": "ITPR1", "hgnc": "HGNC:6180", "name": "inositol 1,4,5-trisphosphate receptor type 1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/itpr1" }, { "slug": "kcnq2", "symbol": "KCNQ2", "hgnc": "HGNC:6296", "name": "potassium voltage-gated channel subfamily Q member 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kcnq2" }, { "slug": "kcnt1", "symbol": "KCNT1", "hgnc": "HGNC:18865", "name": "potassium sodium-activated channel subfamily T member 1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/kcnt1" }, { "slug": "lage3", "symbol": "LAGE3", "hgnc": "HGNC:26058", "name": "L antigen family member 3", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/lage3" }, { "slug": "lama1", "symbol": "LAMA1", "hgnc": "HGNC:6481", "name": "laminin subunit alpha 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/lama1" }, { "slug": "large1", "symbol": "LARGE1", "hgnc": "HGNC:6511", "name": "LARGE xylosyl- and glucuronyltransferase 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/large1" }, { "slug": "ltbp4", "symbol": "LTBP4", "hgnc": "HGNC:6717", "name": "latent transforming growth factor beta binding protein 4", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ltbp4" }, { "slug": "maoa", "symbol": "MAOA", "hgnc": "HGNC:6833", "name": "monoamine oxidase A", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/maoa" }, { "slug": "nin", "symbol": "NIN", "hgnc": "HGNC:14906", "name": "ninein", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nin" }, { "slug": "nsmce2", "symbol": "NSMCE2", "hgnc": "HGNC:26513", "name": "NSE2 SUMO ligase component of SMC5/6 complex", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nsmce2" }, { "slug": "nup107", "symbol": "NUP107", "hgnc": "HGNC:29914", "name": "nucleoporin 107", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nup107" }, { "slug": "nup133", "symbol": "NUP133", "hgnc": "HGNC:18016", "name": "nucleoporin 133", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nup133" }, { "slug": "nup85", "symbol": "NUP85", "hgnc": "HGNC:8734", "name": "nucleoporin 85", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nup85" }, { "slug": "osgep", "symbol": "OSGEP", "hgnc": "HGNC:18028", "name": "O-sialoglycoprotein endopeptidase", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/osgep" }, { "slug": "pcnt", "symbol": "PCNT", "hgnc": "HGNC:16068", "name": "pericentrin", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pcnt" }, { "slug": "pex1", "symbol": "PEX1", "hgnc": "HGNC:8850", "name": "peroxisomal biogenesis factor 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pex1" }, { "slug": "pex10", "symbol": "PEX10", "hgnc": "HGNC:8851", "name": "peroxisomal biogenesis factor 10", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pex10" }, { "slug": "pex11b", "symbol": "PEX11B", "hgnc": "HGNC:8853", "name": "peroxisomal biogenesis factor 11 beta", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pex11b" }, { "slug": "pex12", "symbol": "PEX12", "hgnc": "HGNC:8854", "name": "peroxisomal biogenesis factor 12", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pex12" }, { "slug": "pex13", "symbol": "PEX13", "hgnc": "HGNC:8855", "name": "peroxisomal biogenesis factor 13", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pex13" }, { "slug": "pex14", "symbol": "PEX14", "hgnc": "HGNC:8856", "name": "peroxisomal biogenesis factor 14", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pex14" }, { "slug": "pex16", "symbol": "PEX16", "hgnc": "HGNC:8857", "name": "peroxisomal biogenesis factor 16", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pex16" }, { "slug": "pex19", "symbol": "PEX19", "hgnc": "HGNC:9713", "name": "peroxisomal biogenesis factor 19", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pex19" }, { "slug": "pex2", "symbol": "PEX2", "hgnc": "HGNC:9717", "name": "peroxisomal biogenesis factor 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pex2" }, { "slug": "pex26", "symbol": "PEX26", "hgnc": "HGNC:22965", "name": "peroxisomal biogenesis factor 26", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pex26" }, { "slug": "pex3", "symbol": "PEX3", "hgnc": "HGNC:8858", "name": "peroxisomal biogenesis factor 3", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pex3" }, { "slug": "pex5", "symbol": "PEX5", "hgnc": "HGNC:9719", "name": "peroxisomal biogenesis factor 5", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pex5" }, { "slug": "pex6", "symbol": "PEX6", "hgnc": "HGNC:8859", "name": "peroxisomal biogenesis factor 6", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pex6" }, { "slug": "piga", "symbol": "PIGA", "hgnc": "HGNC:8957", "name": "phosphatidylinositol glycan anchor biosynthesis class A", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/piga" }, { "slug": "plcb1", "symbol": "PLCB1", "hgnc": "HGNC:15917", "name": "phospholipase C beta 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/plcb1" }, { "slug": "plk4", "symbol": "PLK4", "hgnc": "HGNC:11397", "name": "polo like kinase 4", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/plk4" }, { "slug": "plp1", "symbol": "PLP1", "hgnc": "HGNC:9086", "name": "proteolipid protein 1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/plp1" }, { "slug": "pomgnt1", "symbol": "POMGNT1", "hgnc": "HGNC:19139", "name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pomgnt1" }, { "slug": "pomt1", "symbol": "POMT1", "hgnc": "HGNC:9202", "name": "protein O-mannosyltransferase 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pomt1" }, { "slug": "pomt2", "symbol": "POMT2", "hgnc": "HGNC:19743", "name": "protein O-mannosyltransferase 2", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/pomt2" }, { "slug": "prnp", "symbol": "PRNP", "hgnc": "HGNC:9449", "name": "prion protein (Kanno blood group)", "frequency": "very-frequent", "diseases": 4, "url": "https://dantelabs.com/genes/prnp" }, { "slug": "ptpn22", "symbol": "PTPN22", "hgnc": "HGNC:9652", "name": "protein tyrosine phosphatase non-receptor type 22", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ptpn22" }, { "slug": "rbbp8", "symbol": "RBBP8", "hgnc": "HGNC:9891", "name": "RB binding protein 8, endonuclease", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rbbp8" }, { "slug": "scn1a", "symbol": "SCN1A", "hgnc": "HGNC:10585", "name": "sodium voltage-gated channel alpha subunit 1", "frequency": "very-frequent", "diseases": 3, "url": "https://dantelabs.com/genes/scn1a" }, { "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": "setd5", "symbol": "SETD5", "hgnc": "HGNC:25566", "name": "SET domain containing 5", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/setd5" }, { "slug": "sim1", "symbol": "SIM1", "hgnc": "HGNC:10882", "name": "SIM bHLH transcription factor 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sim1" }, { "slug": "slc12a5", "symbol": "SLC12A5", "hgnc": "HGNC:13818", "name": "solute carrier family 12 member 5", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/slc12a5" }, { "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": "slc25a15", "symbol": "SLC25A15", "hgnc": "HGNC:10985", "name": "solute carrier family 25 member 15", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/slc25a15" }, { "slug": "slc25a22", "symbol": "SLC25A22", "hgnc": "HGNC:19954", "name": "solute carrier family 25 member 22", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/slc25a22" }, { "slug": "tbc1d24", "symbol": "TBC1D24", "hgnc": "HGNC:29203", "name": "TBC1 domain family member 24", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tbc1d24" }, { "slug": "tp53rk", "symbol": "TP53RK", "hgnc": "HGNC:16197", "name": "TP53 regulating kinase", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tp53rk" }, { "slug": "tprkb", "symbol": "TPRKB", "hgnc": "HGNC:24259", "name": "TP53RK binding protein", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tprkb" }, { "slug": "traip", "symbol": "TRAIP", "hgnc": "HGNC:30764", "name": "TRAF interacting protein", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/traip" }, { "slug": "trank1", "symbol": "TRANK1", "hgnc": "HGNC:29011", "name": "tetratricopeptide repeat and ankyrin repeat containing 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/trank1" }, { "slug": "tubb2b", "symbol": "TUBB2B", "hgnc": "HGNC:30829", "name": "tubulin beta 2B class IIb", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tubb2b" }, { "slug": "wdr4", "symbol": "WDR4", "hgnc": "HGNC:12756", "name": "WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/wdr4" }, { "slug": "wdr73", "symbol": "WDR73", "hgnc": "HGNC:25928", "name": "WD repeat domain 73", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/wdr73" }, { "slug": "xpa", "symbol": "XPA", "hgnc": "HGNC:12814", "name": "XPA, DNA damage recognition and repair factor", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/xpa" }, { "slug": "xpc", "symbol": "XPC", "hgnc": "HGNC:12816", "name": "XPC complex subunit, DNA damage recognition and repair factor", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/xpc" }, { "slug": "yrdc", "symbol": "YRDC", "hgnc": "HGNC:28905", "name": "yrdC N6-threonylcarbamoyltransferase domain containing", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/yrdc" }, { "slug": "ada2", "symbol": "ADA2", "hgnc": "HGNC:1839", "name": "adenosine deaminase 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ada2" }, { "slug": "adamtsl4", "symbol": "ADAMTSL4", "hgnc": "HGNC:19706", "name": "ADAMTS like 4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/adamtsl4" }, { "slug": "ang", "symbol": "ANG", "hgnc": "HGNC:483", "name": "angiogenin", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ang" }, { "slug": "anxa11", "symbol": "ANXA11", "hgnc": "HGNC:535", "name": "annexin A11", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/anxa11" }, { "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": "arl6", "symbol": "ARL6", "hgnc": "HGNC:13210", "name": "ARF like GTPase 6", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/arl6" }, { "slug": "atn1", "symbol": "ATN1", "hgnc": "HGNC:3033", "name": "atrophin 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/atn1" }, { "slug": "atxn1", "symbol": "ATXN1", "hgnc": "HGNC:10548", "name": "ataxin 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/atxn1" }, { "slug": "atxn2", "symbol": "ATXN2", "hgnc": "HGNC:10555", "name": "ataxin 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/atxn2" }, { "slug": "bbip1", "symbol": "BBIP1", "hgnc": "HGNC:28093", "name": "BBSome interacting protein 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bbip1" }, { "slug": "bbs1", "symbol": "BBS1", "hgnc": "HGNC:966", "name": "Bardet-Biedl syndrome 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bbs1" }, { "slug": "bbs10", "symbol": "BBS10", "hgnc": "HGNC:26291", "name": "Bardet-Biedl syndrome 10", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bbs10" }, { "slug": "bbs12", "symbol": "BBS12", "hgnc": "HGNC:26648", "name": "Bardet-Biedl syndrome 12", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/bbs12" }, { "slug": "bbs2", "symbol": "BBS2", "hgnc": "HGNC:967", "name": "Bardet-Biedl syndrome 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bbs2" }, { "slug": "bbs4", "symbol": "BBS4", "hgnc": "HGNC:969", "name": "Bardet-Biedl syndrome 4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bbs4" }, { "slug": "bbs5", "symbol": "BBS5", "hgnc": "HGNC:970", "name": "Bardet-Biedl syndrome 5", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bbs5" }, { "slug": "bbs7", "symbol": "BBS7", "hgnc": "HGNC:18758", "name": "Bardet-Biedl syndrome 7", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bbs7" }, { "slug": "bbs9", "symbol": "BBS9", "hgnc": "HGNC:30000", "name": "Bardet-Biedl syndrome 9", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bbs9" }, { "slug": "cachd1", "symbol": "CACHD1", "hgnc": "HGNC:29314", "name": "cache domain containing 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cachd1" }, { "slug": "ccnf", "symbol": "CCNF", "hgnc": "HGNC:1591", "name": "cyclin F", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ccnf" }, { "slug": "cep19", "symbol": "CEP19", "hgnc": "HGNC:28209", "name": "centrosomal protein 19", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cep19" }, { "slug": "cep290", "symbol": "CEP290", "hgnc": "HGNC:29021", "name": "centrosomal protein 290", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cep290" }, { "slug": "cfap410", "symbol": "CFAP410", "hgnc": "HGNC:1260", "name": "cilia and flagella associated protein 410", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cfap410" }, { "slug": "cfap418", "symbol": "CFAP418", "hgnc": "HGNC:27232", "name": "cilia and flagella associated protein 418", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cfap418" }, { "slug": "chmp2b", "symbol": "CHMP2B", "hgnc": "HGNC:24537", "name": "charged multivesicular body protein 2B", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/chmp2b" }, { "slug": "clcf1", "symbol": "CLCF1", "hgnc": "HGNC:17412", "name": "cardiotrophin like cytokine factor 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/clcf1" }, { "slug": "clmp", "symbol": "CLMP", "hgnc": "HGNC:24039", "name": "CXADR like cell adhesion molecule", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/clmp" }, { "slug": "cln8", "symbol": "CLN8", "hgnc": "HGNC:2079", "name": "CLN8 transmembrane ER and ERGIC protein", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cln8" }, { "slug": "cmpk2", "symbol": "CMPK2", "hgnc": "HGNC:27015", "name": "cytidine/uridine monophosphate kinase 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cmpk2" }, { "slug": "col4a1", "symbol": "COL4A1", "hgnc": "HGNC:2202", "name": "collagen type IV alpha 1 chain", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/col4a1" }, { "slug": "cp", "symbol": "CP", "hgnc": "HGNC:2295", "name": "ceruloplasmin", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cp" }, { "slug": "crlf1", "symbol": "CRLF1", "hgnc": "HGNC:2364", "name": "cytokine receptor like factor 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/crlf1" }, { "slug": "cyp27a1", "symbol": "CYP27A1", "hgnc": "HGNC:2605", "name": "cytochrome P450 family 27 subfamily A member 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cyp27a1" }, { "slug": "dao", "symbol": "DAO", "hgnc": "HGNC:2671", "name": "D-amino acid oxidase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dao" }, { "slug": "dcc", "symbol": "DCC", "hgnc": "HGNC:2701", "name": "DCC netrin 1 receptor", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dcc" }, { "slug": "dctn1", "symbol": "DCTN1", "hgnc": "HGNC:2711", "name": "dynactin subunit 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dctn1" }, { "slug": "erbb4", "symbol": "ERBB4", "hgnc": "HGNC:3432", "name": "erb-b2 receptor tyrosine kinase 4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/erbb4" }, { "slug": "fa2h", "symbol": "FA2H", "hgnc": "HGNC:21197", "name": "fatty acid 2-hydroxylase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fa2h" }, { "slug": "fbn1", "symbol": "FBN1", "hgnc": "HGNC:3603", "name": "fibrillin 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fbn1" }, { "slug": "fbxo7", "symbol": "FBXO7", "hgnc": "HGNC:13586", "name": "F-box protein 7", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fbxo7" }, { "slug": "fgd1", "symbol": "FGD1", "hgnc": "HGNC:3663", "name": "FYVE, RhoGEF and PH domain containing 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fgd1" }, { "slug": "fig4", "symbol": "FIG4", "hgnc": "HGNC:16873", "name": "FIG4 phosphoinositide 5-phosphatase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fig4" }, { "slug": "flna", "symbol": "FLNA", "hgnc": "HGNC:3754", "name": "filamin A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/flna" }, { "slug": "fus", "symbol": "FUS", "hgnc": "HGNC:4010", "name": "FUS RNA binding protein", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/fus" }, { "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": "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": "gba2", "symbol": "GBA2", "hgnc": "HGNC:18986", "name": "glucosylceramidase beta 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gba2" }, { "slug": "gdf5", "symbol": "GDF5", "hgnc": "HGNC:4220", "name": "growth differentiation factor 5", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gdf5" }, { "slug": "gjb2", "symbol": "GJB2", "hgnc": "HGNC:4284", "name": "gap junction protein beta 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gjb2" }, { "slug": "gjc2", "symbol": "GJC2", "hgnc": "HGNC:17494", "name": "gap junction protein gamma 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/gjc2" }, { "slug": "gla", "symbol": "GLA", "hgnc": "HGNC:4296", "name": "galactosidase alpha", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gla" }, { "slug": "gle1", "symbol": "GLE1", "hgnc": "HGNC:4315", "name": "GLE1 RNA export mediator", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gle1" }, { "slug": "glt8d1", "symbol": "GLT8D1", "hgnc": "HGNC:24870", "name": "glycosyltransferase 8 domain containing 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/glt8d1" }, { "slug": "gnptab", "symbol": "GNPTAB", "hgnc": "HGNC:29670", "name": "N-acetylglucosamine-1-phosphate transferase subunits alpha and beta", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/gnptab" }, { "slug": "grid2", "symbol": "GRID2", "hgnc": "HGNC:4576", "name": "glutamate ionotropic receptor delta type subunit 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/grid2" }, { "slug": "grin2a", "symbol": "GRIN2A", "hgnc": "HGNC:4585", "name": "glutamate ionotropic receptor NMDA type subunit 2A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/grin2a" }, { "slug": "hexb", "symbol": "HEXB", "hgnc": "HGNC:4879", "name": "hexosaminidase subunit beta", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hexb" }, { "slug": "hmbs", "symbol": "HMBS", "hgnc": "HGNC:4982", "name": "hydroxymethylbilane synthase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hmbs" }, { "slug": "hnrnpa1", "symbol": "HNRNPA1", "hgnc": "HGNC:5031", "name": "heterogeneous nuclear ribonucleoprotein A1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hnrnpa1" }, { "slug": "hnrnpa2b1", "symbol": "HNRNPA2B1", "hgnc": "HGNC:5033", "name": "heterogeneous nuclear ribonucleoprotein A2/B1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hnrnpa2b1" }, { "slug": "htra1", "symbol": "HTRA1", "hgnc": "HGNC:9476", "name": "HtrA serine peptidase 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/htra1" }, { "slug": "ift172", "symbol": "IFT172", "hgnc": "HGNC:30391", "name": "intraflagellar transport 172", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ift172" }, { "slug": "ift27", "symbol": "IFT27", "hgnc": "HGNC:18626", "name": "intraflagellar transport 27", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ift27" }, { "slug": "ift74", "symbol": "IFT74", "hgnc": "HGNC:21424", "name": "intraflagellar transport 74", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ift74" }, { "slug": "kcnc3", "symbol": "KCNC3", "hgnc": "HGNC:6235", "name": "potassium voltage-gated channel subfamily C member 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kcnc3" }, { "slug": "l1cam", "symbol": "L1CAM", "hgnc": "HGNC:6470", "name": "L1 cell adhesion molecule", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/l1cam" }, { "slug": "lrp12", "symbol": "LRP12", "hgnc": "HGNC:31708", "name": "LDL receptor related protein 12", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/lrp12" }, { "slug": "magel2", "symbol": "MAGEL2", "hgnc": "HGNC:6814", "name": "MAGE family member L2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/magel2" }, { "slug": "mars2", "symbol": "MARS2", "hgnc": "HGNC:25133", "name": "methionyl-tRNA synthetase 2, mitochondrial", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mars2" }, { "slug": "matr3", "symbol": "MATR3", "hgnc": "HGNC:6912", "name": "matrin 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/matr3" }, { "slug": "mkks", "symbol": "MKKS", "hgnc": "HGNC:7108", "name": "MKKS centrosomal shuttling protein", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mkks" }, { "slug": "mks1", "symbol": "MKS1", "hgnc": "HGNC:7121", "name": "MKS transition zone complex subunit 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mks1" }, { "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-rnr1", "symbol": "MT-RNR1", "hgnc": "HGNC:7470", "name": "mitochondrially encoded 12S rRNA", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mt-rnr1" }, { "slug": "mt-tf", "symbol": "MT-TF", "hgnc": "HGNC:7481", "name": "mitochondrially encoded tRNA-Phe (UUU/C)", "frequency": "frequent", "diseases": 1, "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": 1, "url": "https://dantelabs.com/genes/mt-th" }, { "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": 2, "url": "https://dantelabs.com/genes/mt-tl1" }, { "slug": "mt-tp", "symbol": "MT-TP", "hgnc": "HGNC:7494", "name": "mitochondrially encoded tRNA-Pro (CCN)", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mt-tp" }, { "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": 1, "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": 1, "url": "https://dantelabs.com/genes/mt-ts2" }, { "slug": "mtrfr", "symbol": "MTRFR", "hgnc": "HGNC:26784", "name": "mitochondrial translation release factor in rescue", "frequency": "frequent", "diseases": 3, "url": "https://dantelabs.com/genes/mtrfr" }, { "slug": "nefh", "symbol": "NEFH", "hgnc": "HGNC:7737", "name": "neurofilament heavy chain", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nefh" }, { "slug": "nek1", "symbol": "NEK1", "hgnc": "HGNC:7744", "name": "NIMA related kinase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nek1" }, { "slug": "notch2nlc", "symbol": "NOTCH2NLC", "hgnc": "HGNC:53924", "name": "notch 2 N-terminal like C", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/notch2nlc" }, { "slug": "nphp1", "symbol": "NPHP1", "hgnc": "HGNC:7905", "name": "nephrocystin 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nphp1" }, { "slug": "optn", "symbol": "OPTN", "hgnc": "HGNC:17142", "name": "optineurin", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/optn" }, { "slug": "pank2", "symbol": "PANK2", "hgnc": "HGNC:15894", "name": "pantothenate kinase 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/pank2" }, { "slug": "pcdh19", "symbol": "PCDH19", "hgnc": "HGNC:14270", "name": "protocadherin 19", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pcdh19" }, { "slug": "pfn1", "symbol": "PFN1", "hgnc": "HGNC:8881", "name": "profilin 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pfn1" }, { "slug": "pi4ka", "symbol": "PI4KA", "hgnc": "HGNC:8983", "name": "phosphatidylinositol 4-kinase alpha", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pi4ka" }, { "slug": "pmpca", "symbol": "PMPCA", "hgnc": "HGNC:18667", "name": "peptidase, mitochondrial processing subunit alpha", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pmpca" }, { "slug": "pnkp", "symbol": "PNKP", "hgnc": "HGNC:9154", "name": "polynucleotide kinase 3'-phosphatase", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/pnkp" }, { "slug": "polg", "symbol": "POLG", "hgnc": "HGNC:9179", "name": "DNA polymerase gamma, catalytic subunit", "frequency": "frequent", "diseases": 5, "url": "https://dantelabs.com/genes/polg" }, { "slug": "porcn", "symbol": "PORCN", "hgnc": "HGNC:17652", "name": "porcupine O-acyltransferase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/porcn" }, { "slug": "prph", "symbol": "PRPH", "hgnc": "HGNC:9461", "name": "peripherin", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/prph" }, { "slug": "pten", "symbol": "PTEN", "hgnc": "HGNC:9588", "name": "phosphatase and tensin homolog", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pten" }, { "slug": "rab32", "symbol": "RAB32", "hgnc": "HGNC:9772", "name": "RAB32, member RAS oncogene family", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rab32" }, { "slug": "rai1", "symbol": "RAI1", "hgnc": "HGNC:9834", "name": "retinoic acid induced 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rai1" }, { "slug": "rin2", "symbol": "RIN2", "hgnc": "HGNC:18750", "name": "Ras and Rab interactor 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rin2" }, { "slug": "robo3", "symbol": "ROBO3", "hgnc": "HGNC:13433", "name": "roundabout guidance receptor 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/robo3" }, { "slug": "scaper", "symbol": "SCAPER", "hgnc": "HGNC:13081", "name": "S-phase cyclin A associated protein in the ER", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/scaper" }, { "slug": "sclt1", "symbol": "SCLT1", "hgnc": "HGNC:26406", "name": "sodium channel and clathrin linker 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sclt1" }, { "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": "scn9a", "symbol": "SCN9A", "hgnc": "HGNC:10597", "name": "sodium voltage-gated channel alpha subunit 9", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/scn9a" }, { "slug": "sdccag8", "symbol": "SDCCAG8", "hgnc": "HGNC:10671", "name": "SHH signaling and ciliogenesis regulator SDCCAG8", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/sdccag8" }, { "slug": "slc7a7", "symbol": "SLC7A7", "hgnc": "HGNC:11065", "name": "solute carrier family 7 member 7", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/slc7a7" }, { "slug": "snca", "symbol": "SNCA", "hgnc": "HGNC:11138", "name": "synuclein alpha", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/snca" }, { "slug": "snord118", "symbol": "SNORD118", "hgnc": "HGNC:32952", "name": "small nucleolar RNA, C/D box 118", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/snord118" }, { "slug": "sod1", "symbol": "SOD1", "hgnc": "HGNC:11179", "name": "superoxide dismutase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sod1" }, { "slug": "spart", "symbol": "SPART", "hgnc": "HGNC:18514", "name": "spartin", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/spart" }, { "slug": "spr", "symbol": "SPR", "hgnc": "HGNC:11257", "name": "sepiapterin reductase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/spr" }, { "slug": "stub1", "symbol": "STUB1", "hgnc": "HGNC:11427", "name": "STIP1 homology and U-box containing protein 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/stub1" }, { "slug": "taf15", "symbol": "TAF15", "hgnc": "HGNC:11547", "name": "TATA-box binding protein associated factor 15", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/taf15" }, { "slug": "tardbp", "symbol": "TARDBP", "hgnc": "HGNC:11571", "name": "TAR DNA binding protein", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/tardbp" }, { "slug": "tbk1", "symbol": "TBK1", "hgnc": "HGNC:11584", "name": "TANK binding kinase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tbk1" }, { "slug": "tmem240", "symbol": "TMEM240", "hgnc": "HGNC:25186", "name": "transmembrane protein 240", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/tmem240" }, { "slug": "trem2", "symbol": "TREM2", "hgnc": "HGNC:17761", "name": "triggering receptor expressed on myeloid cells 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/trem2" }, { "slug": "trex1", "symbol": "TREX1", "hgnc": "HGNC:12269", "name": "three prime repair exonuclease 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/trex1" }, { "slug": "trim32", "symbol": "TRIM32", "hgnc": "HGNC:16380", "name": "tripartite motif containing 32", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/trim32" }, { "slug": "ttc8", "symbol": "TTC8", "hgnc": "HGNC:20087", "name": "tetratricopeptide repeat domain 8", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ttc8" }, { "slug": "ubqln2", "symbol": "UBQLN2", "hgnc": "HGNC:12509", "name": "ubiquilin 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ubqln2" }, { "slug": "unc13a", "symbol": "UNC13A", "hgnc": "HGNC:23150", "name": "unc-13 homolog A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/unc13a" }, { "slug": "vapb", "symbol": "VAPB", "hgnc": "HGNC:12649", "name": "VAMP associated protein B and C", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/vapb" }, { "slug": "vcp", "symbol": "VCP", "hgnc": "HGNC:12666", "name": "valosin containing protein", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/vcp" }, { "slug": "wdpcp", "symbol": "WDPCP", "hgnc": "HGNC:28027", "name": "WD repeat containing planar cell polarity effector", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/wdpcp" }, { "slug": "zfyve26", "symbol": "ZFYVE26", "hgnc": "HGNC:20761", "name": "zinc finger FYVE-type containing 26", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/zfyve26" }, { "slug": "aass", "symbol": "AASS", "hgnc": "HGNC:17366", "name": "aminoadipate-semialdehyde synthase", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/aass" }, { "slug": "abca5", "symbol": "ABCA5", "hgnc": "HGNC:35", "name": "ATP binding cassette subfamily A member 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/abca5" }, { "slug": "abcd1", "symbol": "ABCD1", "hgnc": "HGNC:61", "name": "ATP binding cassette subfamily D member 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/abcd1" }, { "slug": "adgrv1", "symbol": "ADGRV1", "hgnc": "HGNC:17416", "name": "adhesion G protein-coupled receptor V1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/adgrv1" }, { "slug": "afg3l2", "symbol": "AFG3L2", "hgnc": "HGNC:315", "name": "AFG3 like matrix AAA peptidase subunit 2", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/afg3l2" }, { "slug": "aifm1", "symbol": "AIFM1", "hgnc": "HGNC:8768", "name": "apoptosis inducing factor mitochondria associated 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/aifm1" }, { "slug": "akt1", "symbol": "AKT1", "hgnc": "HGNC:391", "name": "AKT serine/threonine kinase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/akt1" }, { "slug": "alg13", "symbol": "ALG13", "hgnc": "HGNC:30881", "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/alg13" }, { "slug": "als2", "symbol": "ALS2", "hgnc": "HGNC:443", "name": "alsin Rho guanine nucleotide exchange factor ALS2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/als2" }, { "slug": "arl6ip6", "symbol": "ARL6IP6", "hgnc": "HGNC:24048", "name": "ARF like GTPase 6 interacting protein 6", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/arl6ip6" }, { "slug": "atm", "symbol": "ATM", "hgnc": "HGNC:795", "name": "ATM serine/threonine kinase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/atm" }, { "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": "bap1", "symbol": "BAP1", "hgnc": "HGNC:950", "name": "BRCA1 associated deubiquitinase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bap1" }, { "slug": "bdnf", "symbol": "BDNF", "hgnc": "HGNC:1033", "name": "brain derived neurotrophic factor", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bdnf" }, { "slug": "cabp4", "symbol": "CABP4", "hgnc": "HGNC:1386", "name": "calcium binding protein 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cabp4" }, { "slug": "ccm2", "symbol": "CCM2", "hgnc": "HGNC:21708", "name": "CCM2 scaffold protein", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ccm2" }, { "slug": "chrm3", "symbol": "CHRM3", "hgnc": "HGNC:1952", "name": "cholinergic receptor muscarinic 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/chrm3" }, { "slug": "chrna2", "symbol": "CHRNA2", "hgnc": "HGNC:1956", "name": "cholinergic receptor nicotinic alpha 2 subunit", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/chrna2" }, { "slug": "chrna4", "symbol": "CHRNA4", "hgnc": "HGNC:1958", "name": "cholinergic receptor nicotinic alpha 4 subunit", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/chrna4" }, { "slug": "chrnb2", "symbol": "CHRNB2", "hgnc": "HGNC:1962", "name": "cholinergic receptor nicotinic beta 2 subunit", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/chrnb2" }, { "slug": "chrng", "symbol": "CHRNG", "hgnc": "HGNC:1967", "name": "cholinergic receptor nicotinic gamma subunit", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/chrng" }, { "slug": "cnbp", "symbol": "CNBP", "hgnc": "HGNC:13164", "name": "CCHC-type zinc finger nucleic acid binding protein", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cnbp" }, { "slug": "coq2", "symbol": "COQ2", "hgnc": "HGNC:25223", "name": "coenzyme Q2, polyprenyltransferase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/coq2" }, { "slug": "coq4", "symbol": "COQ4", "hgnc": "HGNC:19693", "name": "coenzyme Q4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/coq4" }, { "slug": "cpa6", "symbol": "CPA6", "hgnc": "HGNC:17245", "name": "carboxypeptidase A6", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cpa6" }, { "slug": "crh", "symbol": "CRH", "hgnc": "HGNC:2355", "name": "corticotropin releasing hormone", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/crh" }, { "slug": "csf1r", "symbol": "CSF1R", "hgnc": "HGNC:2433", "name": "colony stimulating factor 1 receptor", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/csf1r" }, { "slug": "ctns", "symbol": "CTNS", "hgnc": "HGNC:2518", "name": "cystinosin, lysosomal cystine transporter", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ctns" }, { "slug": "cyp2u1", "symbol": "CYP2U1", "hgnc": "HGNC:20582", "name": "cytochrome P450 family 2 subfamily U member 1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/cyp2u1" }, { "slug": "cyp7b1", "symbol": "CYP7B1", "hgnc": "HGNC:2652", "name": "cytochrome P450 family 7 subfamily B member 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cyp7b1" }, { "slug": "dars2", "symbol": "DARS2", "hgnc": "HGNC:25538", "name": "aspartyl-tRNA synthetase 2, mitochondrial", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dars2" }, { "slug": "depdc5", "symbol": "DEPDC5", "hgnc": "HGNC:18423", "name": "DEP domain containing 5, GATOR1 subcomplex subunit", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/depdc5" }, { "slug": "dguok", "symbol": "DGUOK", "hgnc": "HGNC:2858", "name": "deoxyguanosine kinase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dguok" }, { "slug": "dnajc3", "symbol": "DNAJC3", "hgnc": "HGNC:9439", "name": "DnaJ heat shock protein family (Hsp40) member C3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dnajc3" }, { "slug": "dnajc6", "symbol": "DNAJC6", "hgnc": "HGNC:15469", "name": "DnaJ heat shock protein family (Hsp40) member C6", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/dnajc6" }, { "slug": "dsg4", "symbol": "DSG4", "hgnc": "HGNC:21307", "name": "desmoglein 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dsg4" }, { "slug": "edn3", "symbol": "EDN3", "hgnc": "HGNC:3178", "name": "endothelin 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/edn3" }, { "slug": "ercc6", "symbol": "ERCC6", "hgnc": "HGNC:3438", "name": "ERCC excision repair 6, chromatin remodeling factor", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ercc6" }, { "slug": "ercc8", "symbol": "ERCC8", "hgnc": "HGNC:3439", "name": "ERCC excision repair 8, CSA ubiquitin ligase complex subunit", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ercc8" }, { "slug": "erlin1", "symbol": "ERLIN1", "hgnc": "HGNC:16947", "name": "ER lipid raft associated 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/erlin1" }, { "slug": "fgf13", "symbol": "FGF13", "hgnc": "HGNC:3670", "name": "fibroblast growth factor 13", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fgf13" }, { "slug": "gabrd", "symbol": "GABRD", "hgnc": "HGNC:4084", "name": "gamma-aminobutyric acid type A receptor subunit delta", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gabrd" }, { "slug": "gcdh", "symbol": "GCDH", "hgnc": "HGNC:4189", "name": "glutaryl-CoA dehydrogenase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gcdh" }, { "slug": "gdf3", "symbol": "GDF3", "hgnc": "HGNC:4218", "name": "growth differentiation factor 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gdf3" }, { "slug": "gdf6", "symbol": "GDF6", "hgnc": "HGNC:4221", "name": "growth differentiation factor 6", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gdf6" }, { "slug": "gdnf", "symbol": "GDNF", "hgnc": "HGNC:4232", "name": "glial cell derived neurotrophic factor", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gdnf" }, { "slug": "gna11", "symbol": "GNA11", "hgnc": "HGNC:4379", "name": "G protein subunit alpha 11", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gna11" }, { "slug": "gne", "symbol": "GNE", "hgnc": "HGNC:23657", "name": "glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gne" }, { "slug": "gpc4", "symbol": "GPC4", "hgnc": "HGNC:4452", "name": "glypican 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gpc4" }, { "slug": "gtpbp3", "symbol": "GTPBP3", "hgnc": "HGNC:14880", "name": "GTP binding protein 3, mitochondrial", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gtpbp3" }, { "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": "htra2", "symbol": "HTRA2", "hgnc": "HGNC:14348", "name": "HtrA serine peptidase 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/htra2" }, { "slug": "ikbkg", "symbol": "IKBKG", "hgnc": "HGNC:5961", "name": "inhibitor of nuclear factor kappa B kinase regulatory subunit gamma", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ikbkg" }, { "slug": "kcnd3", "symbol": "KCND3", "hgnc": "HGNC:6239", "name": "potassium voltage-gated channel subfamily D member 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kcnd3" }, { "slug": "kmt2b", "symbol": "KMT2B", "hgnc": "HGNC:15840", "name": "lysine methyltransferase 2B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kmt2b" }, { "slug": "krit1", "symbol": "KRIT1", "hgnc": "HGNC:1573", "name": "KRIT1 ankyrin repeat containing", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/krit1" }, { "slug": "krt81", "symbol": "KRT81", "hgnc": "HGNC:6458", "name": "keratin 81", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/krt81" }, { "slug": "krt83", "symbol": "KRT83", "hgnc": "HGNC:6460", "name": "keratin 83", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/krt83" }, { "slug": "krt86", "symbol": "KRT86", "hgnc": "HGNC:6463", "name": "keratin 86", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/krt86" }, { "slug": "lama2", "symbol": "LAMA2", "hgnc": "HGNC:6482", "name": "laminin subunit alpha 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lama2" }, { "slug": "lars2", "symbol": "LARS2", "hgnc": "HGNC:17095", "name": "leucyl-tRNA synthetase 2, mitochondrial", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lars2" }, { "slug": "lbx1", "symbol": "LBX1", "hgnc": "HGNC:16960", "name": "ladybird homeobox 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lbx1" }, { "slug": "lmnb1", "symbol": "LMNB1", "hgnc": "HGNC:6637", "name": "lamin B1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lmnb1" }, { "slug": "lrrk2", "symbol": "LRRK2", "hgnc": "HGNC:18618", "name": "leucine rich repeat kinase 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lrrk2" }, { "slug": "lyst", "symbol": "LYST", "hgnc": "HGNC:1968", "name": "lysosomal trafficking regulator", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lyst" }, { "slug": "meox1", "symbol": "MEOX1", "hgnc": "HGNC:7013", "name": "mesenchyme homeobox 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/meox1" }, { "slug": "mt-atp8", "symbol": "MT-ATP8", "hgnc": "HGNC:7415", "name": "mitochondrially encoded ATP synthase membrane subunit 8", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mt-atp8" }, { "slug": "mthfr", "symbol": "MTHFR", "hgnc": "HGNC:7436", "name": "methylenetetrahydrofolate reductase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mthfr" }, { "slug": "myh3", "symbol": "MYH3", "hgnc": "HGNC:7573", "name": "myosin heavy chain 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/myh3" }, { "slug": "myo1h", "symbol": "MYO1H", "hgnc": "HGNC:13879", "name": "myosin IH", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/myo1h" }, { "slug": "nags", "symbol": "NAGS", "hgnc": "HGNC:17996", "name": "N-acetylglutamate synthase", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/nags" }, { "slug": "nefl", "symbol": "NEFL", "hgnc": "HGNC:7739", "name": "neurofilament light chain", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nefl" }, { "slug": "nf2", "symbol": "NF2", "hgnc": "HGNC:7773", "name": "NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nf2" }, { "slug": "nkx6-2", "symbol": "NKX6-2", "hgnc": "HGNC:19321", "name": "NK6 homeobox 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nkx6-2" }, { "slug": "nprl2", "symbol": "NPRL2", "hgnc": "HGNC:24969", "name": "NPR2 like, GATOR1 complex subunit", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nprl2" }, { "slug": "nprl3", "symbol": "NPRL3", "hgnc": "HGNC:14124", "name": "NPR3 like, GATOR1 complex subunit", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nprl3" }, { "slug": "park7", "symbol": "PARK7", "hgnc": "HGNC:16369", "name": "Parkinsonism associated deglycase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/park7" }, { "slug": "pdcd10", "symbol": "PDCD10", "hgnc": "HGNC:8761", "name": "programmed cell death 10", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pdcd10" }, { "slug": "pdgfb", "symbol": "PDGFB", "hgnc": "HGNC:8800", "name": "platelet derived growth factor subunit B", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/pdgfb" }, { "slug": "phox2b", "symbol": "PHOX2B", "hgnc": "HGNC:9143", "name": "paired like homeobox 2B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/phox2b" }, { "slug": "pik3ca", "symbol": "PIK3CA", "hgnc": "HGNC:8975", "name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/pik3ca" }, { "slug": "pink1", "symbol": "PINK1", "hgnc": "HGNC:14581", "name": "PTEN induced kinase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pink1" }, { "slug": "podxl", "symbol": "PODXL", "hgnc": "HGNC:9171", "name": "podocalyxin like", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/podxl" }, { "slug": "ppp2r2b", "symbol": "PPP2R2B", "hgnc": "HGNC:9305", "name": "protein phosphatase 2 regulatory subunit Bbeta", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ppp2r2b" }, { "slug": "prkcg", "symbol": "PRKCG", "hgnc": "HGNC:9402", "name": "protein kinase C gamma", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/prkcg" }, { "slug": "prkn", "symbol": "PRKN", "hgnc": "HGNC:8607", "name": "parkin RBR E3 ubiquitin protein ligase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/prkn" }, { "slug": "prkra", "symbol": "PRKRA", "hgnc": "HGNC:9438", "name": "protein activator of interferon induced protein kinase EIF2AK2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/prkra" }, { "slug": "prrt2", "symbol": "PRRT2", "hgnc": "HGNC:30500", "name": "proline rich transmembrane protein 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/prrt2" }, { "slug": "rab3a", "symbol": "RAB3A", "hgnc": "HGNC:9777", "name": "RAB3A, member RAS oncogene family", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rab3a" }, { "slug": "rbm12", "symbol": "RBM12", "hgnc": "HGNC:9898", "name": "RNA binding motif protein 12", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rbm12" }, { "slug": "rmrp", "symbol": "RMRP", "hgnc": "HGNC:10031", "name": "RNA component of mitochondrial RNA processing endoribonuclease", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rmrp" }, { "slug": "rnaseh1", "symbol": "RNASEH1", "hgnc": "HGNC:18466", "name": "ribonuclease H1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rnaseh1" }, { "slug": "rrm2b", "symbol": "RRM2B", "hgnc": "HGNC:17296", "name": "ribonucleotide reductase regulatory TP53 inducible subunit M2B", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/rrm2b" }, { "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": "sigmar1", "symbol": "SIGMAR1", "hgnc": "HGNC:8157", "name": "sigma receptor chaperone 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sigmar1" }, { "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": "slc37a4", "symbol": "SLC37A4", "hgnc": "HGNC:4061", "name": "solute carrier family 37 member 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/slc37a4" }, { "slug": "smarcb1", "symbol": "SMARCB1", "hgnc": "HGNC:11103", "name": "SWI/SNF related BAF chromatin remodeling complex subunit B1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/smarcb1" }, { "slug": "smarce1", "symbol": "SMARCE1", "hgnc": "HGNC:11109", "name": "SWI/SNF related BAF chromatin remodeling complex subunit E1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/smarce1" }, { "slug": "smo", "symbol": "SMO", "hgnc": "HGNC:11119", "name": "smoothened, frizzled class receptor", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/smo" }, { "slug": "sord", "symbol": "SORD", "hgnc": "HGNC:11184", "name": "sorbitol dehydrogenase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sord" }, { "slug": "spast", "symbol": "SPAST", "hgnc": "HGNC:11233", "name": "spastin", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/spast" }, { "slug": "spg11", "symbol": "SPG11", "hgnc": "HGNC:11226", "name": "SPG11 vesicle trafficking associated, spatacsin", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/spg11" }, { "slug": "spg7", "symbol": "SPG7", "hgnc": "HGNC:11237", "name": "SPG7 matrix AAA peptidase subunit, paraplegin", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/spg7" }, { "slug": "sptbn1", "symbol": "SPTBN1", "hgnc": "HGNC:11275", "name": "spectrin beta, non-erythrocytic 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sptbn1" }, { "slug": "sptlc1", "symbol": "SPTLC1", "hgnc": "HGNC:11277", "name": "serine palmitoyltransferase long chain base subunit 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sptlc1" }, { "slug": "sptlc2", "symbol": "SPTLC2", "hgnc": "HGNC:11278", "name": "serine palmitoyltransferase long chain base subunit 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sptlc2" }, { "slug": "stard7", "symbol": "STARD7", "hgnc": "HGNC:18063", "name": "StAR related lipid transfer domain containing 7", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/stard7" }, { "slug": "stx1b", "symbol": "STX1B", "hgnc": "HGNC:18539", "name": "syntaxin 1B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/stx1b" }, { "slug": "sufu", "symbol": "SUFU", "hgnc": "HGNC:16466", "name": "SUFU negative regulator of hedgehog signaling", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sufu" }, { "slug": "syne1", "symbol": "SYNE1", "hgnc": "HGNC:17089", "name": "spectrin repeat containing nuclear envelope protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/syne1" }, { "slug": "synj1", "symbol": "SYNJ1", "hgnc": "HGNC:11503", "name": "synaptojanin 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/synj1" }, { "slug": "tbck", "symbol": "TBCK", "hgnc": "HGNC:28261", "name": "TBC1 domain containing kinase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tbck" }, { "slug": "tert", "symbol": "TERT", "hgnc": "HGNC:11730", "name": "telomerase reverse transcriptase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tert" }, { "slug": "thap11", "symbol": "THAP11", "hgnc": "HGNC:23194", "name": "THAP domain containing 11", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/thap11" }, { "slug": "tp53", "symbol": "TP53", "hgnc": "HGNC:11998", "name": "tumor protein p53", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tp53" }, { "slug": "traf7", "symbol": "TRAF7", "hgnc": "HGNC:20456", "name": "TNF receptor associated factor 7", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/traf7" }, { "slug": "trmt2b", "symbol": "TRMT2B", "hgnc": "HGNC:25748", "name": "tRNA methyltransferase 2B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/trmt2b" }, { "slug": "tsc1", "symbol": "TSC1", "hgnc": "HGNC:12362", "name": "TSC complex subunit 1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/tsc1" }, { "slug": "tsc2", "symbol": "TSC2", "hgnc": "HGNC:12363", "name": "TSC complex subunit 2", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/tsc2" }, { "slug": "twnk", "symbol": "TWNK", "hgnc": "HGNC:1160", "name": "twinkle mtDNA helicase", "frequency": "occasional", "diseases": 3, "url": "https://dantelabs.com/genes/twnk" }, { "slug": "uchl1", "symbol": "UCHL1", "hgnc": "HGNC:12513", "name": "ubiquitin C-terminal hydrolase L1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/uchl1" }, { "slug": "vps13c", "symbol": "VPS13C", "hgnc": "HGNC:23594", "name": "vacuolar protein sorting 13 homolog C", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/vps13c" }, { "slug": "alms1", "symbol": "ALMS1", "hgnc": "HGNC:428", "name": "ALMS1 centrosome and basal body associated protein", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/alms1" }, { "slug": "armc5", "symbol": "ARMC5", "hgnc": "HGNC:25781", "name": "armadillo repeat containing 5", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/armc5" }, { "slug": "dnm1l", "symbol": "DNM1L", "hgnc": "HGNC:2973", "name": "dynamin 1L", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/dnm1l" }, { "slug": "dzip1l", "symbol": "DZIP1L", "hgnc": "HGNC:26551", "name": "DAZ interacting zinc finger protein 1 like", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/dzip1l" }, { "slug": "gnas", "symbol": "GNAS", "hgnc": "HGNC:4392", "name": "GNAS complex locus", "frequency": "very-rare", "diseases": 4, "url": "https://dantelabs.com/genes/gnas" }, { "slug": "irak1", "symbol": "IRAK1", "hgnc": "HGNC:6112", "name": "interleukin 1 receptor associated kinase 1", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/irak1" }, { "slug": "kdm1a", "symbol": "KDM1A", "hgnc": "HGNC:29079", "name": "lysine demethylase 1A", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/kdm1a" }, { "slug": "kif5a", "symbol": "KIF5A", "hgnc": "HGNC:6323", "name": "kinesin family member 5A", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/kif5a" }, { "slug": "opa1", "symbol": "OPA1", "hgnc": "HGNC:8140", "name": "OPA1 mitochondrial dynamin like GTPase", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/opa1" }, { "slug": "pabpn1", "symbol": "PABPN1", "hgnc": "HGNC:8565", "name": "poly(A) binding protein nuclear 1", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/pabpn1" }, { "slug": "pkhd1", "symbol": "PKHD1", "hgnc": "HGNC:9016", "name": "PKHD1 ciliary IPT domain containing fibrocystin/polyductin", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/pkhd1" }, { "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": "ppib", "symbol": "PPIB", "hgnc": "HGNC:9255", "name": "peptidylprolyl isomerase B", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/ppib" }, { "slug": "rrm1", "symbol": "RRM1", "hgnc": "HGNC:10451", "name": "ribonucleotide reductase catalytic subunit M1", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/rrm1" }, { "slug": "sat1", "symbol": "SAT1", "hgnc": "HGNC:10540", "name": "spermidine/spermine N1-acetyltransferase 1", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/sat1" }, { "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": "spp1", "symbol": "SPP1", "hgnc": "HGNC:11255", "name": "secreted phosphoprotein 1", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/spp1" }, { "slug": "spred1", "symbol": "SPRED1", "hgnc": "HGNC:20249", "name": "sprouty related EVH1 domain containing 1", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/spred1" }, { "slug": "stat4", "symbol": "STAT4", "hgnc": "HGNC:11365", "name": "signal transducer and activator of transcription 4", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/stat4" }, { "slug": "tk2", "symbol": "TK2", "hgnc": "HGNC:11831", "name": "thymidine kinase 2", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/tk2" }, { "slug": "top3a", "symbol": "TOP3A", "hgnc": "HGNC:11992", "name": "DNA topoisomerase III alpha", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/top3a" }, { "slug": "uba1", "symbol": "UBA1", "hgnc": "HGNC:12469", "name": "ubiquitin like modifier activating enzyme 1", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/uba1" }, { "slug": "add3", "symbol": "ADD3", "hgnc": "HGNC:245", "name": "adducin 3", "diseases": 1, "url": "https://dantelabs.com/genes/add3" }, { "slug": "apoe", "symbol": "APOE", "hgnc": "HGNC:613", "name": "apolipoprotein E", "diseases": 1, "url": "https://dantelabs.com/genes/apoe" }, { "slug": "aptx", "symbol": "APTX", "hgnc": "HGNC:15984", "name": "aprataxin", "diseases": 1, "url": "https://dantelabs.com/genes/aptx" }, { "slug": "auh", "symbol": "AUH", "hgnc": "HGNC:890", "name": "AU RNA binding methylglutaconyl-CoA hydratase", "diseases": 1, "url": "https://dantelabs.com/genes/auh" }, { "slug": "braf", "symbol": "BRAF", "hgnc": "HGNC:1097", "name": "B-Raf proto-oncogene, serine/threonine kinase", "diseases": 1, "url": "https://dantelabs.com/genes/braf" }, { "slug": "cacna1g", "symbol": "CACNA1G", "hgnc": "HGNC:1394", "name": "calcium voltage-gated channel subunit alpha1 G", "diseases": 1, "url": "https://dantelabs.com/genes/cacna1g" }, { "slug": "cfh", "symbol": "CFH", "hgnc": "HGNC:4883", "name": "complement factor H", "diseases": 1, "url": "https://dantelabs.com/genes/cfh" }, { "slug": "cfhr1", "symbol": "CFHR1", "hgnc": "HGNC:4888", "name": "complement factor H related 1", "diseases": 1, "url": "https://dantelabs.com/genes/cfhr1" }, { "slug": "cfhr3", "symbol": "CFHR3", "hgnc": "HGNC:16980", "name": "complement factor H related 3", "diseases": 1, "url": "https://dantelabs.com/genes/cfhr3" }, { "slug": "ctdp1", "symbol": "CTDP1", "hgnc": "HGNC:2498", "name": "CTD phosphatase 1", "diseases": 1, "url": "https://dantelabs.com/genes/ctdp1" }, { "slug": "glrx5", "symbol": "GLRX5", "hgnc": "HGNC:20134", "name": "glutaredoxin 5", "diseases": 1, "url": "https://dantelabs.com/genes/glrx5" }, { "slug": "iba57", "symbol": "IBA57", "hgnc": "HGNC:27302", "name": "iron-sulfur cluster assembly factor IBA57", "diseases": 1, "url": "https://dantelabs.com/genes/iba57" }, { "slug": "mag", "symbol": "MAG", "hgnc": "HGNC:6783", "name": "myelin associated glycoprotein", "diseases": 1, "url": "https://dantelabs.com/genes/mag" }, { "slug": "mtfmt", "symbol": "MTFMT", "hgnc": "HGNC:29666", "name": "mitochondrial methionyl-tRNA formyltransferase", "diseases": 1, "url": "https://dantelabs.com/genes/mtfmt" }, { "slug": "mtor", "symbol": "MTOR", "hgnc": "HGNC:3942", "name": "mechanistic target of rapamycin kinase", "diseases": 1, "url": "https://dantelabs.com/genes/mtor" }, { "slug": "naga", "symbol": "NAGA", "hgnc": "HGNC:7631", "name": "alpha-N-acetylgalactosaminidase", "diseases": 1, "url": "https://dantelabs.com/genes/naga" }, { "slug": "nfia", "symbol": "NFIA", "hgnc": "HGNC:7784", "name": "nuclear factor I A", "diseases": 1, "url": "https://dantelabs.com/genes/nfia" }, { "slug": "ocrl", "symbol": "OCRL", "hgnc": "HGNC:8108", "name": "OCRL inositol polyphosphate-5-phosphatase", "diseases": 1, "url": "https://dantelabs.com/genes/ocrl" }, { "slug": "opa3", "symbol": "OPA3", "hgnc": "HGNC:8142", "name": "outer mitochondrial membrane lipid metabolism regulator OPA3", "diseases": 1, "url": "https://dantelabs.com/genes/opa3" }, { "slug": "prdm8", "symbol": "PRDM8", "hgnc": "HGNC:13993", "name": "PR/SET domain 8", "diseases": 1, "url": "https://dantelabs.com/genes/prdm8" }, { "slug": "psen2", "symbol": "PSEN2", "hgnc": "HGNC:9509", "name": "presenilin 2", "diseases": 1, "url": "https://dantelabs.com/genes/psen2" }, { "slug": "sdha", "symbol": "SDHA", "hgnc": "HGNC:10680", "name": "succinate dehydrogenase complex flavoprotein subunit A", "diseases": 1, "url": "https://dantelabs.com/genes/sdha" }, { "slug": "skic3", "symbol": "SKIC3", "hgnc": "HGNC:23639", "name": "SKI3 subunit of superkiller complex", "diseases": 1, "url": "https://dantelabs.com/genes/skic3" }, { "slug": "slc2a1", "symbol": "SLC2A1", "hgnc": "HGNC:11005", "name": "solute carrier family 2 member 1", "diseases": 1, "url": "https://dantelabs.com/genes/slc2a1" }, { "slug": "smc1a", "symbol": "SMC1A", "hgnc": "HGNC:11111", "name": "structural maintenance of chromosomes 1A", "diseases": 1, "url": "https://dantelabs.com/genes/smc1a" }, { "slug": "smc3", "symbol": "SMC3", "hgnc": "HGNC:2468", "name": "structural maintenance of chromosomes 3", "diseases": 1, "url": "https://dantelabs.com/genes/smc3" }, { "slug": "sost", "symbol": "SOST", "hgnc": "HGNC:13771", "name": "sclerostin", "diseases": 1, "url": "https://dantelabs.com/genes/sost" }, { "slug": "sptbn2", "symbol": "SPTBN2", "hgnc": "HGNC:11276", "name": "spectrin beta, non-erythrocytic 2", "diseases": 1, "url": "https://dantelabs.com/genes/sptbn2" }, { "slug": "tsfm", "symbol": "TSFM", "hgnc": "HGNC:12367", "name": "Ts translation elongation factor, mitochondrial", "diseases": 1, "url": "https://dantelabs.com/genes/tsfm" }, { "slug": "ttc19", "symbol": "TTC19", "hgnc": "HGNC:26006", "name": "tetratricopeptide repeat domain 19", "diseases": 1, "url": "https://dantelabs.com/genes/ttc19" }, { "slug": "vps37a", "symbol": "VPS37A", "hgnc": "HGNC:24928", "name": "VPS37A subunit of ESCRT-I", "diseases": 1, "url": "https://dantelabs.com/genes/vps37a" }, { "slug": "xpr1", "symbol": "XPR1", "hgnc": "HGNC:12827", "name": "xenotropic and polytropic retrovirus receptor 1", "diseases": 1, "url": "https://dantelabs.com/genes/xpr1" }, { "slug": "xrcc4", "symbol": "XRCC4", "hgnc": "HGNC:12831", "name": "X-ray repair cross complementing 4", "diseases": 1, "url": "https://dantelabs.com/genes/xrcc4" } ] } }