{ "url": "https://dantelabs.com/traits/myopia", "trait": { "bundleId": "2026.10.17-8666dff2", "release": "2026-09-01", "slug": "myopia", "id": "HP:0000545", "name": "Close sighted", "label": "Myopia", "definition": "An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.", "synonyms": [ "Near sighted", "Near sightedness", "Nearsightedness" ], "systems": [ { "slug": "abnormality-of-the-eye", "name": "Abnormality of the eye", "url": "https://dantelabs.com/traits/abnormality-of-the-eye" } ], "broader": [ { "slug": "abnormality-of-refraction", "name": "Abnormality of refraction", "url": "https://dantelabs.com/traits/abnormality-of-refraction" } ], "narrower": [ { "slug": "high-myopia", "name": "Severe near sightedness", "genes": 110, "url": "https://dantelabs.com/traits/high-myopia" }, { "slug": "mild-myopia", "name": "Mild myopia", "genes": 10, "url": "https://dantelabs.com/traits/mild-myopia" }, { "slug": "moderate-myopia", "name": "Moderate myopia", "genes": 9, "url": "https://dantelabs.com/traits/moderate-myopia" } ], "genes": [ { "slug": "adamts18", "symbol": "ADAMTS18", "hgnc": "HGNC:17110", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 18", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/adamts18" }, { "slug": "b3galt6", "symbol": "B3GALT6", "hgnc": "HGNC:17978", "name": "beta-1,3-galactosyltransferase 6", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/b3galt6" }, { "slug": "cacna1f", "symbol": "CACNA1F", "hgnc": "HGNC:1393", "name": "calcium voltage-gated channel subunit alpha1 F", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/cacna1f" }, { "slug": "camk2g", "symbol": "CAMK2G", "hgnc": "HGNC:1463", "name": "calcium/calmodulin dependent protein kinase II gamma", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/camk2g" }, { "slug": "col11a1", "symbol": "COL11A1", "hgnc": "HGNC:2186", "name": "collagen type XI alpha 1 chain", "frequency": "obligate", "diseases": 4, "url": "https://dantelabs.com/genes/col11a1" }, { "slug": "col2a1", "symbol": "COL2A1", "hgnc": "HGNC:2200", "name": "collagen type II alpha 1 chain", "frequency": "obligate", "diseases": 14, "url": "https://dantelabs.com/genes/col2a1" }, { "slug": "col9a1", "symbol": "COL9A1", "hgnc": "HGNC:2217", "name": "collagen type IX alpha 1 chain", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/col9a1" }, { "slug": "copz1", "symbol": "COPZ1", "hgnc": "HGNC:2243", "name": "coat protein complex I subunit zeta 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/copz1" }, { "slug": "crnkl1", "symbol": "CRNKL1", "hgnc": "HGNC:15762", "name": "crooked neck pre-mRNA splicing factor 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/crnkl1" }, { "slug": "eed", "symbol": "EED", "hgnc": "HGNC:3188", "name": "embryonic ectoderm development", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/eed" }, { "slug": "eri1", "symbol": "ERI1", "hgnc": "HGNC:23994", "name": "exoribonuclease 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/eri1" }, { "slug": "exosc2", "symbol": "EXOSC2", "hgnc": "HGNC:17097", "name": "exosome component 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/exosc2" }, { "slug": "gnptg", "symbol": "GNPTG", "hgnc": "HGNC:23026", "name": "N-acetylglucosamine-1-phosphate transferase subunit gamma", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/gnptg" }, { "slug": "ift27", "symbol": "IFT27", "hgnc": "HGNC:18626", "name": "intraflagellar transport 27", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ift27" }, { "slug": "ints11", "symbol": "INTS11", "hgnc": "HGNC:26052", "name": "integrator complex subunit 11", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ints11" }, { "slug": "kdm2b", "symbol": "KDM2B", "hgnc": "HGNC:13610", "name": "lysine demethylase 2B", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/kdm2b" }, { "slug": "kdm6b", "symbol": "KDM6B", "hgnc": "HGNC:29012", "name": "lysine demethylase 6B", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/kdm6b" }, { "slug": "lrrc32", "symbol": "LRRC32", "hgnc": "HGNC:4161", "name": "leucine rich repeat containing 32", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/lrrc32" }, { "slug": "map2k2", "symbol": "MAP2K2", "hgnc": "HGNC:6842", "name": "mitogen-activated protein kinase kinase 2", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/map2k2" }, { "slug": "msl2", "symbol": "MSL2", "hgnc": "HGNC:25544", "name": "MSL complex subunit 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/msl2" }, { "slug": "nhej1", "symbol": "NHEJ1", "hgnc": "HGNC:25737", "name": "non-homologous end joining factor 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nhej1" }, { "slug": "nos3", "symbol": "NOS3", "hgnc": "HGNC:7876", "name": "nitric oxide synthase 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nos3" }, { "slug": "nr6a1", "symbol": "NR6A1", "hgnc": "HGNC:7985", "name": "nuclear receptor subfamily 6 group A member 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nr6a1" }, { "slug": "pan2", "symbol": "PAN2", "hgnc": "HGNC:20074", "name": "poly(A) specific ribonuclease subunit PAN2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pan2" }, { "slug": "pex11b", "symbol": "PEX11B", "hgnc": "HGNC:8853", "name": "peroxisomal biogenesis factor 11 beta", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pex11b" }, { "slug": "piga", "symbol": "PIGA", "hgnc": "HGNC:8957", "name": "phosphatidylinositol glycan anchor biosynthesis class A", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/piga" }, { "slug": "plod3", "symbol": "PLOD3", "hgnc": "HGNC:9083", "name": "procollagen-lysine,2-oxoglutarate 5-dioxygenase 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/plod3" }, { "slug": "pomgnt1", "symbol": "POMGNT1", "hgnc": "HGNC:19139", "name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)", "frequency": "obligate", "diseases": 4, "url": "https://dantelabs.com/genes/pomgnt1" }, { "slug": "prps1", "symbol": "PRPS1", "hgnc": "HGNC:9462", "name": "phosphoribosyl pyrophosphate synthetase 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/prps1" }, { "slug": "rfc4", "symbol": "RFC4", "hgnc": "HGNC:9972", "name": "replication factor C subunit 4", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rfc4" }, { "slug": "rp2", "symbol": "RP2", "hgnc": "HGNC:10274", "name": "RP2 activator of ARL3 GTPase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rp2" }, { "slug": "rpgrip1", "symbol": "RPGRIP1", "hgnc": "HGNC:13436", "name": "RPGR interacting protein 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/rpgrip1" }, { "slug": "sptssa", "symbol": "SPTSSA", "hgnc": "HGNC:20361", "name": "serine palmitoyltransferase small subunit A", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/sptssa" }, { "slug": "tbc1d7", "symbol": "TBC1D7", "hgnc": "HGNC:21066", "name": "TBC1 domain family member 7", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/tbc1d7" }, { "slug": "tmem216", "symbol": "TMEM216", "hgnc": "HGNC:25018", "name": "transmembrane protein 216", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/tmem216" }, { "slug": "tspan7", "symbol": "TSPAN7", "hgnc": "HGNC:11854", "name": "tetraspanin 7", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/tspan7" }, { "slug": "tub", "symbol": "TUB", "hgnc": "HGNC:12406", "name": "TUB bipartite transcription factor", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/tub" }, { "slug": "ubap2l", "symbol": "UBAP2L", "hgnc": "HGNC:29877", "name": "ubiquitin associated protein 2 like", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ubap2l" }, { "slug": "vps13b", "symbol": "VPS13B", "hgnc": "HGNC:2183", "name": "vacuolar protein sorting 13 homolog B", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/vps13b" }, { "slug": "wdr19", "symbol": "WDR19", "hgnc": "HGNC:18340", "name": "WD repeat domain 19", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/wdr19" }, { "slug": "zfx", "symbol": "ZFX", "hgnc": "HGNC:12869", "name": "zinc finger protein X-linked", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/zfx" }, { "slug": "zmym3", "symbol": "ZMYM3", "hgnc": "HGNC:13054", "name": "zinc finger MYM-type containing 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/zmym3" }, { "slug": "asxl1", "symbol": "ASXL1", "hgnc": "HGNC:18318", "name": "ASXL transcriptional regulator 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/asxl1" }, { "slug": "b3galnt2", "symbol": "B3GALNT2", "hgnc": "HGNC:28596", "name": "beta-1,3-N-acetylgalactosaminyltransferase 2", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/b3galnt2" }, { "slug": "bmp4", "symbol": "BMP4", "hgnc": "HGNC:1071", "name": "bone morphogenetic protein 4", "frequency": "very-frequent", "diseases": 3, "url": "https://dantelabs.com/genes/bmp4" }, { "slug": "chm", "symbol": "CHM", "hgnc": "HGNC:1940", "name": "CHM Rab escort protein", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/chm" }, { "slug": "cldn19", "symbol": "CLDN19", "hgnc": "HGNC:2040", "name": "claudin 19", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/cldn19" }, { "slug": "col18a1", "symbol": "COL18A1", "hgnc": "HGNC:2195", "name": "collagen type XVIII alpha 1 chain", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/col18a1" }, { "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": "dpyd", "symbol": "DPYD", "hgnc": "HGNC:3012", "name": "dihydropyrimidine dehydrogenase", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/dpyd" }, { "slug": "fkrp", "symbol": "FKRP", "hgnc": "HGNC:17997", "name": "fukutin related protein", "frequency": "very-frequent", "diseases": 5, "url": "https://dantelabs.com/genes/fkrp" }, { "slug": "fktn", "symbol": "FKTN", "hgnc": "HGNC:3622", "name": "fukutin", "frequency": "very-frequent", "diseases": 4, "url": "https://dantelabs.com/genes/fktn" }, { "slug": "gmppb", "symbol": "GMPPB", "hgnc": "HGNC:22932", "name": "GDP-mannose pyrophosphorylase B", "frequency": "very-frequent", "diseases": 3, "url": "https://dantelabs.com/genes/gmppb" }, { "slug": "large1", "symbol": "LARGE1", "hgnc": "HGNC:6511", "name": "LARGE xylosyl- and glucuronyltransferase 1", "frequency": "very-frequent", "diseases": 3, "url": "https://dantelabs.com/genes/large1" }, { "slug": "lrp2", "symbol": "LRP2", "hgnc": "HGNC:6694", "name": "LDL receptor related protein 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/lrp2" }, { "slug": "oat", "symbol": "OAT", "hgnc": "HGNC:8091", "name": "ornithine aminotransferase", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/oat" }, { "slug": "pak2", "symbol": "PAK2", "hgnc": "HGNC:8591", "name": "p21 (RAC1) activated kinase 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pak2" }, { "slug": "pomt1", "symbol": "POMT1", "hgnc": "HGNC:9202", "name": "protein O-mannosyltransferase 1", "frequency": "very-frequent", "diseases": 5, "url": "https://dantelabs.com/genes/pomt1" }, { "slug": "pomt2", "symbol": "POMT2", "hgnc": "HGNC:19743", "name": "protein O-mannosyltransferase 2", "frequency": "very-frequent", "diseases": 6, "url": "https://dantelabs.com/genes/pomt2" }, { "slug": "prdm5", "symbol": "PRDM5", "hgnc": "HGNC:9349", "name": "PR/SET domain 5", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/prdm5" }, { "slug": "pten", "symbol": "PTEN", "hgnc": "HGNC:9588", "name": "phosphatase and tensin homolog", "frequency": "very-frequent", "diseases": 3, "url": "https://dantelabs.com/genes/pten" }, { "slug": "tcf4", "symbol": "TCF4", "hgnc": "HGNC:11634", "name": "transcription factor 4", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/tcf4" }, { "slug": "trpm1", "symbol": "TRPM1", "hgnc": "HGNC:7146", "name": "transient receptor potential cation channel subfamily M member 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/trpm1" }, { "slug": "tulp1", "symbol": "TULP1", "hgnc": "HGNC:12423", "name": "TUB like protein 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tulp1" }, { "slug": "acox1", "symbol": "ACOX1", "hgnc": "HGNC:119", "name": "acyl-CoA oxidase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/acox1" }, { "slug": "adamts2", "symbol": "ADAMTS2", "hgnc": "HGNC:218", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/adamts2" }, { "slug": "adamtsl1", "symbol": "ADAMTSL1", "hgnc": "HGNC:14632", "name": "ADAMTS like 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/adamtsl1" }, { "slug": "adamtsl2", "symbol": "ADAMTSL2", "hgnc": "HGNC:14631", "name": "ADAMTS like 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/adamtsl2" }, { "slug": "adgrv1", "symbol": "ADGRV1", "hgnc": "HGNC:17416", "name": "adhesion G protein-coupled receptor V1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/adgrv1" }, { "slug": "agbl5", "symbol": "AGBL5", "hgnc": "HGNC:26147", "name": "AGBL carboxypeptidase 5", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/agbl5" }, { "slug": "agk", "symbol": "AGK", "hgnc": "HGNC:21869", "name": "acylglycerol kinase", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/agk" }, { "slug": "arid1b", "symbol": "ARID1B", "hgnc": "HGNC:18040", "name": "AT-rich interaction domain 1B", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/arid1b" }, { "slug": "arl6", "symbol": "ARL6", "hgnc": "HGNC:13210", "name": "ARF like GTPase 6", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/arl6" }, { "slug": "ascc3", "symbol": "ASCC3", "hgnc": "HGNC:18697", "name": "activating signal cointegrator 1 complex subunit 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ascc3" }, { "slug": "atad3a", "symbol": "ATAD3A", "hgnc": "HGNC:25567", "name": "ATPase family AAA domain containing 3A", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/atad3a" }, { "slug": "atf6", "symbol": "ATF6", "hgnc": "HGNC:791", "name": "activating transcription factor 6", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/atf6" }, { "slug": "b4galt1", "symbol": "B4GALT1", "hgnc": "HGNC:924", "name": "beta-1,4-galactosyltransferase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/b4galt1" }, { "slug": "bbs1", "symbol": "BBS1", "hgnc": "HGNC:966", "name": "Bardet-Biedl syndrome 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bbs1" }, { "slug": "bptf", "symbol": "BPTF", "hgnc": "HGNC:3581", "name": "bromodomain PHD finger transcription factor", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bptf" }, { "slug": "braf", "symbol": "BRAF", "hgnc": "HGNC:1097", "name": "B-Raf proto-oncogene, serine/threonine kinase", "frequency": "frequent", "diseases": 3, "url": "https://dantelabs.com/genes/braf" }, { "slug": "brd4", "symbol": "BRD4", "hgnc": "HGNC:13575", "name": "bromodomain containing 4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/brd4" }, { "slug": "camta1", "symbol": "CAMTA1", "hgnc": "HGNC:18806", "name": "calmodulin binding transcription activator 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/camta1" }, { "slug": "cask", "symbol": "CASK", "hgnc": "HGNC:1497", "name": "calcium/calmodulin dependent serine protein kinase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cask" }, { "slug": "cbs", "symbol": "CBS", "hgnc": "HGNC:1550", "name": "cystathionine beta-synthase", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/cbs" }, { "slug": "ccdc28b", "symbol": "CCDC28B", "hgnc": "HGNC:28163", "name": "coiled-coil domain containing 28B", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ccdc28b" }, { "slug": "cdk8", "symbol": "CDK8", "hgnc": "HGNC:1779", "name": "cyclin dependent kinase 8", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cdk8" }, { "slug": "chst14", "symbol": "CHST14", "hgnc": "HGNC:24464", "name": "carbohydrate sulfotransferase 14", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/chst14" }, { "slug": "cnga3", "symbol": "CNGA3", "hgnc": "HGNC:2150", "name": "cyclic nucleotide gated channel subunit alpha 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cnga3" }, { "slug": "cngb3", "symbol": "CNGB3", "hgnc": "HGNC:2153", "name": "cyclic nucleotide gated channel subunit beta 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cngb3" }, { "slug": "col1a2", "symbol": "COL1A2", "hgnc": "HGNC:2198", "name": "collagen type I alpha 2 chain", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/col1a2" }, { "slug": "col9a2", "symbol": "COL9A2", "hgnc": "HGNC:2218", "name": "collagen type IX alpha 2 chain", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/col9a2" }, { "slug": "col9a3", "symbol": "COL9A3", "hgnc": "HGNC:2219", "name": "collagen type IX alpha 3 chain", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/col9a3" }, { "slug": "cryaa", "symbol": "CRYAA", "hgnc": "HGNC:2388", "name": "crystallin alpha A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cryaa" }, { "slug": "cryba4", "symbol": "CRYBA4", "hgnc": "HGNC:2396", "name": "crystallin beta A4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cryba4" }, { "slug": "crybb1", "symbol": "CRYBB1", "hgnc": "HGNC:2397", "name": "crystallin beta B1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/crybb1" }, { "slug": "crybb2", "symbol": "CRYBB2", "hgnc": "HGNC:2398", "name": "crystallin beta B2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/crybb2" }, { "slug": "crygc", "symbol": "CRYGC", "hgnc": "HGNC:2410", "name": "crystallin gamma C", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/crygc" }, { "slug": "crygd", "symbol": "CRYGD", "hgnc": "HGNC:2411", "name": "crystallin gamma D", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/crygd" }, { "slug": "dse", "symbol": "DSE", "hgnc": "HGNC:21144", "name": "dermatan sulfate epimerase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dse" }, { "slug": "exosc5", "symbol": "EXOSC5", "hgnc": "HGNC:24662", "name": "exosome component 5", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/exosc5" }, { "slug": "fanci", "symbol": "FANCI", "hgnc": "HGNC:25568", "name": "FA complementation group I", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fanci" }, { "slug": "fbn1", "symbol": "FBN1", "hgnc": "HGNC:3603", "name": "fibrillin 1", "frequency": "frequent", "diseases": 5, "url": "https://dantelabs.com/genes/fbn1" }, { "slug": "fgfr2", "symbol": "FGFR2", "hgnc": "HGNC:3689", "name": "fibroblast growth factor receptor 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fgfr2" }, { "slug": "fkbp14", "symbol": "FKBP14", "hgnc": "HGNC:18625", "name": "FKBP prolyl isomerase 14", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/fkbp14" }, { "slug": "fsd1l", "symbol": "FSD1L", "hgnc": "HGNC:13753", "name": "fibronectin type III and SPRY domain containing 1 like", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fsd1l" }, { "slug": "gja1", "symbol": "GJA1", "hgnc": "HGNC:4274", "name": "gap junction protein alpha 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/gja1" }, { "slug": "gja8", "symbol": "GJA8", "hgnc": "HGNC:4281", "name": "gap junction protein alpha 8", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gja8" }, { "slug": "gnat2", "symbol": "GNAT2", "hgnc": "HGNC:4394", "name": "G protein subunit alpha transducin 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gnat2" }, { "slug": "gpaa1", "symbol": "GPAA1", "hgnc": "HGNC:4446", "name": "glycosylphosphatidylinositol anchor attachment 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/gpaa1" }, { "slug": "gpr156", "symbol": "GPR156", "hgnc": "HGNC:20844", "name": "G protein-coupled receptor 156", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gpr156" }, { "slug": "grm6", "symbol": "GRM6", "hgnc": "HGNC:4598", "name": "glutamate metabotropic receptor 6", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/grm6" }, { "slug": "gtpbp2", "symbol": "GTPBP2", "hgnc": "HGNC:4670", "name": "GTP binding protein 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gtpbp2" }, { "slug": "hace1", "symbol": "HACE1", "hgnc": "HGNC:21033", "name": "HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/hace1" }, { "slug": "hdac8", "symbol": "HDAC8", "hgnc": "HGNC:13315", "name": "histone deacetylase 8", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/hdac8" }, { "slug": "hras", "symbol": "HRAS", "hgnc": "HGNC:5173", "name": "HRas proto-oncogene, GTPase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hras" }, { "slug": "hspg2", "symbol": "HSPG2", "hgnc": "HGNC:5273", "name": "heparan sulfate proteoglycan 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/hspg2" }, { "slug": "hyal2", "symbol": "HYAL2", "hgnc": "HGNC:5321", "name": "hyaluronidase 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hyal2" }, { "slug": "kat6a", "symbol": "KAT6A", "hgnc": "HGNC:13013", "name": "lysine acetyltransferase 6A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kat6a" }, { "slug": "kdm5b", "symbol": "KDM5B", "hgnc": "HGNC:18039", "name": "lysine demethylase 5B", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kdm5b" }, { "slug": "kif11", "symbol": "KIF11", "hgnc": "HGNC:6388", "name": "kinesin family member 11", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/kif11" }, { "slug": "kras", "symbol": "KRAS", "hgnc": "HGNC:6407", "name": "KRas proto-oncogene, GTPase", "frequency": "frequent", "diseases": 3, "url": "https://dantelabs.com/genes/kras" }, { "slug": "lama1", "symbol": "LAMA1", "hgnc": "HGNC:6481", "name": "laminin subunit alpha 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/lama1" }, { "slug": "lamp2", "symbol": "LAMP2", "hgnc": "HGNC:6501", "name": "lysosome associated membrane protein 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/lamp2" }, { "slug": "loxl3", "symbol": "LOXL3", "hgnc": "HGNC:13869", "name": "lysyl oxidase like 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/loxl3" }, { "slug": "lrrc8c", "symbol": "LRRC8C", "hgnc": "HGNC:25075", "name": "leucine rich repeat containing 8 VRAC subunit C", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/lrrc8c" }, { "slug": "maf", "symbol": "MAF", "hgnc": "HGNC:6776", "name": "MAF bZIP transcription factor", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/maf" }, { "slug": "man2b1", "symbol": "MAN2B1", "hgnc": "HGNC:6826", "name": "mannosidase alpha class 2B member 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/man2b1" }, { "slug": "map2k1", "symbol": "MAP2K1", "hgnc": "HGNC:6840", "name": "mitogen-activated protein kinase kinase 1", "frequency": "frequent", "diseases": 3, "url": "https://dantelabs.com/genes/map2k1" }, { "slug": "mau2", "symbol": "MAU2", "hgnc": "HGNC:29140", "name": "MAU2 sister chromatid cohesion factor", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/mau2" }, { "slug": "myo1h", "symbol": "MYO1H", "hgnc": "HGNC:13879", "name": "myosin IH", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/myo1h" }, { "slug": "myo5a", "symbol": "MYO5A", "hgnc": "HGNC:7602", "name": "myosin VA", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/myo5a" }, { "slug": "myo7a", "symbol": "MYO7A", "hgnc": "HGNC:7606", "name": "myosin VIIA", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/myo7a" }, { "slug": "nbas", "symbol": "NBAS", "hgnc": "HGNC:15625", "name": "NBAS subunit of NRZ tethering complex", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nbas" }, { "slug": "ndrg1", "symbol": "NDRG1", "hgnc": "HGNC:7679", "name": "N-myc downstream regulated 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ndrg1" }, { "slug": "ndufb11", "symbol": "NDUFB11", "hgnc": "HGNC:20372", "name": "NADH:ubiquinone oxidoreductase subunit B11", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ndufb11" }, { "slug": "nfix", "symbol": "NFIX", "hgnc": "HGNC:7788", "name": "nuclear factor I X", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/nfix" }, { "slug": "nipbl", "symbol": "NIPBL", "hgnc": "HGNC:28862", "name": "NIPBL cohesin loading factor", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/nipbl" }, { "slug": "nono", "symbol": "NONO", "hgnc": "HGNC:7871", "name": "non-POU domain containing octamer binding", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/nono" }, { "slug": "nsd1", "symbol": "NSD1", "hgnc": "HGNC:14234", "name": "nuclear receptor binding SET domain protein 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/nsd1" }, { "slug": "opn1lw", "symbol": "OPN1LW", "hgnc": "HGNC:9936", "name": "opsin 1, long wave sensitive", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/opn1lw" }, { "slug": "opn1mw", "symbol": "OPN1MW", "hgnc": "HGNC:4206", "name": "opsin 1, medium wave sensitive", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/opn1mw" }, { "slug": "pax2", "symbol": "PAX2", "hgnc": "HGNC:8616", "name": "paired box 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pax2" }, { "slug": "pcyt1a", "symbol": "PCYT1A", "hgnc": "HGNC:8754", "name": "phosphate cytidylyltransferase 1A, choline", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pcyt1a" }, { "slug": "pde6c", "symbol": "PDE6C", "hgnc": "HGNC:8787", "name": "phosphodiesterase 6C", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pde6c" }, { "slug": "pde6h", "symbol": "PDE6H", "hgnc": "HGNC:8790", "name": "phosphodiesterase 6H", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pde6h" }, { "slug": "pdzd7", "symbol": "PDZD7", "hgnc": "HGNC:26257", "name": "PDZ domain containing 7", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pdzd7" }, { "slug": "pdzd8", "symbol": "PDZD8", "hgnc": "HGNC:26974", "name": "PDZ domain containing 8", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pdzd8" }, { "slug": "polr1c", "symbol": "POLR1C", "hgnc": "HGNC:20194", "name": "RNA polymerase I and III subunit C", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/polr1c" }, { "slug": "polr3a", "symbol": "POLR3A", "hgnc": "HGNC:30074", "name": "RNA polymerase III subunit A", "frequency": "frequent", "diseases": 3, "url": "https://dantelabs.com/genes/polr3a" }, { "slug": "polr3b", "symbol": "POLR3B", "hgnc": "HGNC:30348", "name": "RNA polymerase III subunit B", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/polr3b" }, { "slug": "ppp1r21", "symbol": "PPP1R21", "hgnc": "HGNC:30595", "name": "protein phosphatase 1 regulatory subunit 21", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ppp1r21" }, { "slug": "prr12", "symbol": "PRR12", "hgnc": "HGNC:29217", "name": "proline rich 12", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/prr12" }, { "slug": "psmd12", "symbol": "PSMD12", "hgnc": "HGNC:9557", "name": "proteasome 26S subunit, non-ATPase 12", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/psmd12" }, { "slug": "rad21", "symbol": "RAD21", "hgnc": "HGNC:9811", "name": "RAD21 cohesin complex component", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rad21" }, { "slug": "rai1", "symbol": "RAI1", "hgnc": "HGNC:9834", "name": "retinoic acid induced 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/rai1" }, { "slug": "rhoa", "symbol": "RHOA", "hgnc": "HGNC:667", "name": "ras homolog family member A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rhoa" }, { "slug": "rmrp", "symbol": "RMRP", "hgnc": "HGNC:10031", "name": "RNA component of mitochondrial RNA processing endoribonuclease", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rmrp" }, { "slug": "rnu5b-1", "symbol": "RNU5B-1", "hgnc": "HGNC:10212", "name": "RNA, U5B small nuclear 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rnu5b-1" }, { "slug": "rpgr", "symbol": "RPGR", "hgnc": "HGNC:10295", "name": "retinitis pigmentosa GTPase regulator", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/rpgr" }, { "slug": "setd5", "symbol": "SETD5", "hgnc": "HGNC:25566", "name": "SET domain containing 5", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/setd5" }, { "slug": "slc25a4", "symbol": "SLC25A4", "hgnc": "HGNC:10990", "name": "solute carrier family 25 member 4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/slc25a4" }, { "slug": "slc2a10", "symbol": "SLC2A10", "hgnc": "HGNC:13444", "name": "solute carrier family 2 member 10", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/slc2a10" }, { "slug": "smc1a", "symbol": "SMC1A", "hgnc": "HGNC:11111", "name": "structural maintenance of chromosomes 1A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/smc1a" }, { "slug": "smc3", "symbol": "SMC3", "hgnc": "HGNC:2468", "name": "structural maintenance of chromosomes 3", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/smc3" }, { "slug": "sox10", "symbol": "SOX10", "hgnc": "HGNC:11190", "name": "SRY-box transcription factor 10", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sox10" }, { "slug": "sox5", "symbol": "SOX5", "hgnc": "HGNC:11201", "name": "SRY-box transcription factor 5", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/sox5" }, { "slug": "taf1", "symbol": "TAF1", "hgnc": "HGNC:11535", "name": "TATA-box binding protein associated factor 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/taf1" }, { "slug": "tfe3", "symbol": "TFE3", "hgnc": "HGNC:11752", "name": "transcription factor binding to IGHM enhancer 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tfe3" }, { "slug": "thoc6", "symbol": "THOC6", "hgnc": "HGNC:28369", "name": "THO complex subunit 6", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/thoc6" }, { "slug": "tkfc", "symbol": "TKFC", "hgnc": "HGNC:24552", "name": "triokinase and FMN cyclase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tkfc" }, { "slug": "tlk2", "symbol": "TLK2", "hgnc": "HGNC:11842", "name": "tousled like kinase 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tlk2" }, { "slug": "tmem63a", "symbol": "TMEM63A", "hgnc": "HGNC:29118", "name": "transmembrane protein 63A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tmem63a" }, { "slug": "twist2", "symbol": "TWIST2", "hgnc": "HGNC:20670", "name": "twist family bHLH transcription factor 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/twist2" }, { "slug": "ube3b", "symbol": "UBE3B", "hgnc": "HGNC:13478", "name": "ubiquitin protein ligase E3B", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ube3b" }, { "slug": "unc119", "symbol": "UNC119", "hgnc": "HGNC:12565", "name": "unc-119 lipid binding chaperone", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/unc119" }, { "slug": "ush2a", "symbol": "USH2A", "hgnc": "HGNC:12601", "name": "usherin", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ush2a" }, { "slug": "vars1", "symbol": "VARS1", "hgnc": "HGNC:12651", "name": "valyl-tRNA synthetase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/vars1" }, { "slug": "vcan", "symbol": "VCAN", "hgnc": "HGNC:2464", "name": "versican", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/vcan" }, { "slug": "whrn", "symbol": "WHRN", "hgnc": "HGNC:16361", "name": "whirlin", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/whrn" }, { "slug": "yme1l1", "symbol": "YME1L1", "hgnc": "HGNC:12843", "name": "YME1 like 1 ATPase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/yme1l1" }, { "slug": "znf408", "symbol": "ZNF408", "hgnc": "HGNC:20041", "name": "zinc finger protein 408", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/znf408" }, { "slug": "zswim6", "symbol": "ZSWIM6", "hgnc": "HGNC:29316", "name": "zinc finger SWIM-type containing 6", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/zswim6" }, { "slug": "aars1", "symbol": "AARS1", "hgnc": "HGNC:20", "name": "alanyl-tRNA synthetase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/aars1" }, { "slug": "acsl4", "symbol": "ACSL4", "hgnc": "HGNC:3571", "name": "acyl-CoA synthetase long chain family member 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/acsl4" }, { "slug": "aebp1", "symbol": "AEBP1", "hgnc": "HGNC:303", "name": "AE binding protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/aebp1" }, { "slug": "aff4", "symbol": "AFF4", "hgnc": "HGNC:17869", "name": "ALF transcription elongation factor 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/aff4" }, { "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": "aldh3a2", "symbol": "ALDH3A2", "hgnc": "HGNC:403", "name": "aldehyde dehydrogenase 3 family member A2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/aldh3a2" }, { "slug": "alms1", "symbol": "ALMS1", "hgnc": "HGNC:428", "name": "ALMS1 centrosome and basal body associated protein", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/alms1" }, { "slug": "ammecr1", "symbol": "AMMECR1", "hgnc": "HGNC:467", "name": "AMMECR nuclear protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ammecr1" }, { "slug": "amotl1", "symbol": "AMOTL1", "hgnc": "HGNC:17811", "name": "angiomotin like 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/amotl1" }, { "slug": "ankrd11", "symbol": "ANKRD11", "hgnc": "HGNC:21316", "name": "ankyrin repeat domain 11", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ankrd11" }, { "slug": "antxr1", "symbol": "ANTXR1", "hgnc": "HGNC:21014", "name": "ANTXR cell adhesion molecule 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/antxr1" }, { "slug": "ap3d1", "symbol": "AP3D1", "hgnc": "HGNC:568", "name": "adaptor related protein complex 3 subunit delta 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ap3d1" }, { "slug": "arcn1", "symbol": "ARCN1", "hgnc": "HGNC:649", "name": "archain 1 coat protein complex I subunit delta", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/arcn1" }, { "slug": "arid1a", "symbol": "ARID1A", "hgnc": "HGNC:11110", "name": "AT-rich interaction domain 1A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/arid1a" }, { "slug": "arid2", "symbol": "ARID2", "hgnc": "HGNC:18037", "name": "AT-rich interaction domain 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/arid2" }, { "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": "atrx", "symbol": "ATRX", "hgnc": "HGNC:886", "name": "ATRX chromatin remodeler", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/atrx" }, { "slug": "baz1b", "symbol": "BAZ1B", "hgnc": "HGNC:961", "name": "bromodomain adjacent to zinc finger domain 1B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/baz1b" }, { "slug": "bcl11b", "symbol": "BCL11B", "hgnc": "HGNC:13222", "name": "BCL11 transcription factor B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bcl11b" }, { "slug": "bicra", "symbol": "BICRA", "hgnc": "HGNC:4332", "name": "BRD4 interacting chromatin remodeling complex associated protein", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bicra" }, { "slug": "bud23", "symbol": "BUD23", "hgnc": "HGNC:16405", "name": "BUD23 rRNA methyltransferase and ribosome maturation factor", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bud23" }, { "slug": "cabp4", "symbol": "CABP4", "hgnc": "HGNC:1386", "name": "calcium binding protein 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cabp4" }, { "slug": "caprin1", "symbol": "CAPRIN1", "hgnc": "HGNC:6743", "name": "cell cycle associated protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/caprin1" }, { "slug": "cars1", "symbol": "CARS1", "hgnc": "HGNC:1493", "name": "cysteinyl-tRNA synthetase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cars1" }, { "slug": "ccnq", "symbol": "CCNQ", "hgnc": "HGNC:28434", "name": "cyclin Q", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ccnq" }, { "slug": "cdc45", "symbol": "CDC45", "hgnc": "HGNC:1739", "name": "cell division cycle 45", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cdc45" }, { "slug": "chd6", "symbol": "CHD6", "hgnc": "HGNC:19057", "name": "chromodomain helicase DNA binding protein 6", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/chd6" }, { "slug": "chmp1a", "symbol": "CHMP1A", "hgnc": "HGNC:8740", "name": "charged multivesicular body protein 1A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/chmp1a" }, { "slug": "cilk1", "symbol": "CILK1", "hgnc": "HGNC:21219", "name": "ciliogenesis associated kinase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cilk1" }, { "slug": "cldn16", "symbol": "CLDN16", "hgnc": "HGNC:2037", "name": "claudin 16", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cldn16" }, { "slug": "clip2", "symbol": "CLIP2", "hgnc": "HGNC:2586", "name": "CAP-Gly domain containing linker protein 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/clip2" }, { "slug": "col12a1", "symbol": "COL12A1", "hgnc": "HGNC:2188", "name": "collagen type XII alpha 1 chain", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/col12a1" }, { "slug": "col1a1", "symbol": "COL1A1", "hgnc": "HGNC:2197", "name": "collagen type I alpha 1 chain", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/col1a1" }, { "slug": "col4a5", "symbol": "COL4A5", "hgnc": "HGNC:2207", "name": "collagen type IV alpha 5 chain", "frequency": "occasional", "diseases": 3, "url": "https://dantelabs.com/genes/col4a5" }, { "slug": "col4a6", "symbol": "COL4A6", "hgnc": "HGNC:2208", "name": "collagen type IV alpha 6 chain", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/col4a6" }, { "slug": "cox7b", "symbol": "COX7B", "hgnc": "HGNC:2291", "name": "cytochrome c oxidase subunit 7B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cox7b" }, { "slug": "crebbp", "symbol": "CREBBP", "hgnc": "HGNC:2348", "name": "CREB binding lysine acetyltransferase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/crebbp" }, { "slug": "creld1", "symbol": "CRELD1", "hgnc": "HGNC:14630", "name": "CRELD disulfide isomerase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/creld1" }, { "slug": "cryba2", "symbol": "CRYBA2", "hgnc": "HGNC:2395", "name": "crystallin beta A2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cryba2" }, { "slug": "cspp1", "symbol": "CSPP1", "hgnc": "HGNC:26193", "name": "centrosome and spindle pole associated protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cspp1" }, { "slug": "ctnnb1", "symbol": "CTNNB1", "hgnc": "HGNC:2514", "name": "catenin beta 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ctnnb1" }, { "slug": "cyp1b1", "symbol": "CYP1B1", "hgnc": "HGNC:2597", "name": "cytochrome P450 family 1 subfamily B member 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cyp1b1" }, { "slug": "dbr1", "symbol": "DBR1", "hgnc": "HGNC:15594", "name": "debranching RNA lariats 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dbr1" }, { "slug": "dnajc30", "symbol": "DNAJC30", "hgnc": "HGNC:16410", "name": "DnaJ heat shock protein family (Hsp40) member C30", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dnajc30" }, { "slug": "dpf2", "symbol": "DPF2", "hgnc": "HGNC:9964", "name": "double PHD fingers 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dpf2" }, { "slug": "dyrk1a", "symbol": "DYRK1A", "hgnc": "HGNC:3091", "name": "dual specificity tyrosine phosphorylation regulated kinase 1A", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/dyrk1a" }, { "slug": "ebf3", "symbol": "EBF3", "hgnc": "HGNC:19087", "name": "EBF transcription factor 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ebf3" }, { "slug": "eif4h", "symbol": "EIF4H", "hgnc": "HGNC:12741", "name": "eukaryotic translation initiation factor 4H", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/eif4h" }, { "slug": "eln", "symbol": "ELN", "hgnc": "HGNC:3327", "name": "elastin", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/eln" }, { "slug": "elp1", "symbol": "ELP1", "hgnc": "HGNC:5959", "name": "elongator acetyltransferase complex subunit 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/elp1" }, { "slug": "emc1", "symbol": "EMC1", "hgnc": "HGNC:28957", "name": "ER membrane protein complex subunit 1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/emc1" }, { "slug": "ercc2", "symbol": "ERCC2", "hgnc": "HGNC:3434", "name": "ERCC excision repair 2, TFIIH core complex helicase subunit", "frequency": "occasional", "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": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ercc3" }, { "slug": "fbxw11", "symbol": "FBXW11", "hgnc": "HGNC:13607", "name": "F-box and WD repeat domain containing 11", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fbxw11" }, { "slug": "fkbp6", "symbol": "FKBP6", "hgnc": "HGNC:3722", "name": "FKBP prolyl isomerase family member 6 (inactive)", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fkbp6" }, { "slug": "fn1", "symbol": "FN1", "hgnc": "HGNC:3778", "name": "fibronectin 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fn1" }, { "slug": "fzd4", "symbol": "FZD4", "hgnc": "HGNC:4042", "name": "frizzled class receptor 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fzd4" }, { "slug": "gpr143", "symbol": "GPR143", "hgnc": "HGNC:20145", "name": "G protein-coupled receptor 143", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gpr143" }, { "slug": "grk1", "symbol": "GRK1", "hgnc": "HGNC:10013", "name": "G protein-coupled receptor kinase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/grk1" }, { "slug": "gtf2e2", "symbol": "GTF2E2", "hgnc": "HGNC:4651", "name": "general transcription factor IIE subunit 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gtf2e2" }, { "slug": "gtf2h5", "symbol": "GTF2H5", "hgnc": "HGNC:21157", "name": "general transcription factor IIH subunit 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gtf2h5" }, { "slug": "gtf2i", "symbol": "GTF2I", "hgnc": "HGNC:4659", "name": "general transcription factor IIi", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gtf2i" }, { "slug": "gtf2ird1", "symbol": "GTF2IRD1", "hgnc": "HGNC:4661", "name": "GTF2I repeat domain containing 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gtf2ird1" }, { "slug": "gtf2ird2", "symbol": "GTF2IRD2", "hgnc": "HGNC:30775", "name": "GTF2I repeat domain containing 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gtf2ird2" }, { "slug": "hadha", "symbol": "HADHA", "hgnc": "HGNC:4801", "name": "hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/hadha" }, { "slug": "herc2", "symbol": "HERC2", "hgnc": "HGNC:4868", "name": "HECT and RLD domain containing E3 ubiquitin protein ligase 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/herc2" }, { "slug": "hnrnpk", "symbol": "HNRNPK", "hgnc": "HGNC:5044", "name": "heterogeneous nuclear ribonucleoprotein K", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/hnrnpk" }, { "slug": "ift122", "symbol": "IFT122", "hgnc": "HGNC:13556", "name": "intraflagellar transport 122", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/ift122" }, { "slug": "ift43", "symbol": "IFT43", "hgnc": "HGNC:29669", "name": "intraflagellar transport 43", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ift43" }, { "slug": "ift52", "symbol": "IFT52", "hgnc": "HGNC:15901", "name": "intraflagellar transport 52", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ift52" }, { "slug": "igf1", "symbol": "IGF1", "hgnc": "HGNC:5464", "name": "insulin like growth factor 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/igf1" }, { "slug": "ipo8", "symbol": "IPO8", "hgnc": "HGNC:9853", "name": "importin 8", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ipo8" }, { "slug": "kcne5", "symbol": "KCNE5", "hgnc": "HGNC:6241", "name": "potassium voltage-gated channel subfamily E regulatory subunit 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kcne5" }, { "slug": "kcnj13", "symbol": "KCNJ13", "hgnc": "HGNC:6259", "name": "potassium inwardly rectifying channel subfamily J member 13", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kcnj13" }, { "slug": "kdm5c", "symbol": "KDM5C", "hgnc": "HGNC:11114", "name": "lysine demethylase 5C", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kdm5c" }, { "slug": "kiaa0586", "symbol": "KIAA0586", "hgnc": "HGNC:19960", "name": "KIAA0586", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kiaa0586" }, { "slug": "lamb2", "symbol": "LAMB2", "hgnc": "HGNC:6487", "name": "laminin subunit beta 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lamb2" }, { "slug": "lca5", "symbol": "LCA5", "hgnc": "HGNC:31923", "name": "lebercilin LCA5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lca5" }, { "slug": "limk1", "symbol": "LIMK1", "hgnc": "HGNC:6613", "name": "LIM domain kinase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/limk1" }, { "slug": "lox", "symbol": "LOX", "hgnc": "HGNC:6664", "name": "lysyl oxidase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lox" }, { "slug": "lrat", "symbol": "LRAT", "hgnc": "HGNC:6685", "name": "lecithin retinol acyltransferase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lrat" }, { "slug": "lrp5", "symbol": "LRP5", "hgnc": "HGNC:6697", "name": "LDL receptor related protein 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lrp5" }, { "slug": "ltbp2", "symbol": "LTBP2", "hgnc": "HGNC:6715", "name": "latent transforming growth factor beta binding protein 2", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/ltbp2" }, { "slug": "ltbp3", "symbol": "LTBP3", "hgnc": "HGNC:6716", "name": "latent transforming growth factor beta binding protein 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ltbp3" }, { "slug": "madd", "symbol": "MADD", "hgnc": "HGNC:6766", "name": "MAP kinase activating death domain", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/madd" }, { "slug": "magel2", "symbol": "MAGEL2", "hgnc": "HGNC:6814", "name": "MAGE family member L2", "frequency": "occasional", "diseases": 3, "url": "https://dantelabs.com/genes/magel2" }, { "slug": "mark2", "symbol": "MARK2", "hgnc": "HGNC:3332", "name": "microtubule affinity regulating kinase 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mark2" }, { "slug": "mbtps2", "symbol": "MBTPS2", "hgnc": "HGNC:15455", "name": "membrane bound transcription factor peptidase, site 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mbtps2" }, { "slug": "med12l", "symbol": "MED12L", "hgnc": "HGNC:16050", "name": "mediator complex subunit 12L", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/med12l" }, { "slug": "med13l", "symbol": "MED13L", "hgnc": "HGNC:22962", "name": "mediator complex subunit 13L", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/med13l" }, { "slug": "mettl27", "symbol": "METTL27", "hgnc": "HGNC:19068", "name": "methyltransferase like 27", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mettl27" }, { "slug": "mkrn3", "symbol": "MKRN3", "hgnc": "HGNC:7114", "name": "makorin ring finger protein 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mkrn3" }, { "slug": "mplkip", "symbol": "MPLKIP", "hgnc": "HGNC:16002", "name": "M-phase specific PLK1 interacting protein", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mplkip" }, { "slug": "msx2", "symbol": "MSX2", "hgnc": "HGNC:7392", "name": "msh homeobox 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/msx2" }, { "slug": "myoc", "symbol": "MYOC", "hgnc": "HGNC:7610", "name": "myocilin", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/myoc" }, { "slug": "ncf1", "symbol": "NCF1", "hgnc": "HGNC:7660", "name": "neutrophil cytosolic factor 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ncf1" }, { "slug": "ndp", "symbol": "NDP", "hgnc": "HGNC:7678", "name": "norrin cystine knot growth factor NDP", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ndp" }, { "slug": "nedd4l", "symbol": "NEDD4L", "hgnc": "HGNC:7728", "name": "NEDD4 like E3 ubiquitin protein ligase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nedd4l" }, { "slug": "notch2", "symbol": "NOTCH2", "hgnc": "HGNC:7882", "name": "notch receptor 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/notch2" }, { "slug": "npap1", "symbol": "NPAP1", "hgnc": "HGNC:1190", "name": "nuclear pore associated protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/npap1" }, { "slug": "npr3", "symbol": "NPR3", "hgnc": "HGNC:7945", "name": "natriuretic peptide receptor 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/npr3" }, { "slug": "nras", "symbol": "NRAS", "hgnc": "HGNC:7989", "name": "NRAS proto-oncogene, GTPase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nras" }, { "slug": "nt5c2", "symbol": "NT5C2", "hgnc": "HGNC:8022", "name": "5'-nucleotidase, cytosolic II", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/nt5c2" }, { "slug": "otx2", "symbol": "OTX2", "hgnc": "HGNC:8522", "name": "orthodenticle homeobox 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/otx2" }, { "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": "pigt", "symbol": "PIGT", "hgnc": "HGNC:14938", "name": "phosphatidylinositol glycan anchor biosynthesis class T", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pigt" }, { "slug": "pik3r1", "symbol": "PIK3R1", "hgnc": "HGNC:8979", "name": "phosphoinositide-3-kinase regulatory subunit 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pik3r1" }, { "slug": "plod1", "symbol": "PLOD1", "hgnc": "HGNC:9081", "name": "procollagen-lysine,2-oxoglutarate 5-dioxygenase 1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/plod1" }, { "slug": "pmm2", "symbol": "PMM2", "hgnc": "HGNC:9115", "name": "phosphomannomutase 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pmm2" }, { "slug": "pnpla6", "symbol": "PNPLA6", "hgnc": "HGNC:16268", "name": "patatin like domain 6, lysophospholipase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pnpla6" }, { "slug": "pogz", "symbol": "POGZ", "hgnc": "HGNC:18801", "name": "pogo transposable element derived with ZNF domain", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/pogz" }, { "slug": "pomk", "symbol": "POMK", "hgnc": "HGNC:26267", "name": "protein O-mannose kinase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pomk" }, { "slug": "ppp2r5c", "symbol": "PPP2R5C", "hgnc": "HGNC:9311", "name": "protein phosphatase 2 regulatory subunit B'gamma", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ppp2r5c" }, { "slug": "ppp2r5d", "symbol": "PPP2R5D", "hgnc": "HGNC:9312", "name": "protein phosphatase 2 regulatory subunit B'delta", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ppp2r5d" }, { "slug": "prph2", "symbol": "PRPH2", "hgnc": "HGNC:9942", "name": "peripherin 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/prph2" }, { "slug": "psap", "symbol": "PSAP", "hgnc": "HGNC:9498", "name": "prosaposin", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/psap" }, { "slug": "ptbp1", "symbol": "PTBP1", "hgnc": "HGNC:9583", "name": "polypyrimidine tract binding protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ptbp1" }, { "slug": "puf60", "symbol": "PUF60", "hgnc": "HGNC:17042", "name": "poly(U) binding splicing factor 60", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/puf60" }, { "slug": "pura", "symbol": "PURA", "hgnc": "HGNC:9701", "name": "purine rich element binding protein A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pura" }, { "slug": "pwar1", "symbol": "PWAR1", "hgnc": "HGNC:30089", "name": "Prader Willi/Angelman region RNA 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pwar1" }, { "slug": "pwrn1", "symbol": "PWRN1", "hgnc": "HGNC:33235", "name": "Prader-Willi region non-protein coding RNA 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pwrn1" }, { "slug": "rbm10", "symbol": "RBM10", "hgnc": "HGNC:9896", "name": "RNA binding motif protein 10", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rbm10" }, { "slug": "rere", "symbol": "RERE", "hgnc": "HGNC:9965", "name": "arginine-glutamic acid dipeptide repeats", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rere" }, { "slug": "rfc2", "symbol": "RFC2", "hgnc": "HGNC:9970", "name": "replication factor C subunit 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rfc2" }, { "slug": "rnf113a", "symbol": "RNF113A", "hgnc": "HGNC:12974", "name": "ring finger protein 113A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rnf113a" }, { "slug": "rnu4-2", "symbol": "RNU4-2", "hgnc": "HGNC:10193", "name": "RNA, U4 small nuclear 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rnu4-2" }, { "slug": "rpe65", "symbol": "RPE65", "hgnc": "HGNC:10294", "name": "retinoid isomerohydrolase RPE65", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rpe65" }, { "slug": "rpl10", "symbol": "RPL10", "hgnc": "HGNC:10298", "name": "ribosomal protein L10", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rpl10" }, { "slug": "sag", "symbol": "SAG", "hgnc": "HGNC:10521", "name": "S-antigen visual arrestin", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sag" }, { "slug": "setbp1", "symbol": "SETBP1", "hgnc": "HGNC:15573", "name": "SET binding protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/setbp1" }, { "slug": "shoc2", "symbol": "SHOC2", "hgnc": "HGNC:15454", "name": "SHOC2 leucine rich repeat scaffold protein", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/shoc2" }, { "slug": "ski", "symbol": "SKI", "hgnc": "HGNC:10896", "name": "SKI proto-oncogene", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/ski" }, { "slug": "slc12a6", "symbol": "SLC12A6", "hgnc": "HGNC:10914", "name": "solute carrier family 12 member 6", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/slc12a6" }, { "slug": "smad2", "symbol": "SMAD2", "hgnc": "HGNC:6768", "name": "SMAD family member 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/smad2" }, { "slug": "smad3", "symbol": "SMAD3", "hgnc": "HGNC:6769", "name": "SMAD family member 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/smad3" }, { "slug": "smarca4", "symbol": "SMARCA4", "hgnc": "HGNC:11100", "name": "SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/smarca4" }, { "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": "smarcc2", "symbol": "SMARCC2", "hgnc": "HGNC:11105", "name": "SWI/SNF related BAF chromatin remodeling complex subunit C2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/smarcc2" }, { "slug": "smarcd1", "symbol": "SMARCD1", "hgnc": "HGNC:11106", "name": "SWI/SNF related BAF chromatin remodeling complex subunit D1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/smarcd1" }, { "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": "snord115-1", "symbol": "SNORD115-1", "hgnc": "HGNC:33020", "name": "small nucleolar RNA, C/D box 115-1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/snord115-1" }, { "slug": "snord116-1", "symbol": "SNORD116-1", "hgnc": "HGNC:33067", "name": "small nucleolar RNA, C/D box 116-1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/snord116-1" }, { "slug": "snrpn", "symbol": "SNRPN", "hgnc": "HGNC:11164", "name": "small nuclear ribonucleoprotein polypeptide N", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/snrpn" }, { "slug": "son", "symbol": "SON", "hgnc": "HGNC:11183", "name": "SON DNA and RNA binding protein", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/son" }, { "slug": "sox11", "symbol": "SOX11", "hgnc": "HGNC:11191", "name": "SRY-box transcription factor 11", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sox11" }, { "slug": "sox4", "symbol": "SOX4", "hgnc": "HGNC:11200", "name": "SRY-box transcription factor 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sox4" }, { "slug": "sox9", "symbol": "SOX9", "hgnc": "HGNC:11204", "name": "SRY-box transcription factor 9", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sox9" }, { "slug": "spata7", "symbol": "SPATA7", "hgnc": "HGNC:20423", "name": "spermatogenesis associated 7", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/spata7" }, { "slug": "stx1a", "symbol": "STX1A", "hgnc": "HGNC:11433", "name": "syntaxin 1A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/stx1a" }, { "slug": "tars1", "symbol": "TARS1", "hgnc": "HGNC:11572", "name": "threonyl-tRNA synthetase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tars1" }, { "slug": "tbc1d24", "symbol": "TBC1D24", "hgnc": "HGNC:29203", "name": "TBC1 domain family member 24", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tbc1d24" }, { "slug": "tbl2", "symbol": "TBL2", "hgnc": "HGNC:11586", "name": "transducin beta like 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tbl2" }, { "slug": "tek", "symbol": "TEK", "hgnc": "HGNC:11724", "name": "TEK receptor tyrosine kinase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tek" }, { "slug": "tfap2b", "symbol": "TFAP2B", "hgnc": "HGNC:11743", "name": "transcription factor AP-2 beta", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tfap2b" }, { "slug": "tgfb2", "symbol": "TGFB2", "hgnc": "HGNC:11768", "name": "transforming growth factor beta 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tgfb2" }, { "slug": "tgfb3", "symbol": "TGFB3", "hgnc": "HGNC:11769", "name": "transforming growth factor beta 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tgfb3" }, { "slug": "tgfbr1", "symbol": "TGFBR1", "hgnc": "HGNC:11772", "name": "transforming growth factor beta receptor 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tgfbr1" }, { "slug": "tgfbr2", "symbol": "TGFBR2", "hgnc": "HGNC:11773", "name": "transforming growth factor beta receptor 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tgfbr2" }, { "slug": "tmem270", "symbol": "TMEM270", "hgnc": "HGNC:23018", "name": "transmembrane protein 270", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tmem270" }, { "slug": "tnpo2", "symbol": "TNPO2", "hgnc": "HGNC:19998", "name": "transportin 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tnpo2" }, { "slug": "tra2b", "symbol": "TRA2B", "hgnc": "HGNC:10781", "name": "transformer 2 beta homolog", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tra2b" }, { "slug": "trappc11", "symbol": "TRAPPC11", "hgnc": "HGNC:25751", "name": "trafficking protein particle complex subunit 11", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/trappc11" }, { "slug": "usp7", "symbol": "USP7", "hgnc": "HGNC:12630", "name": "ubiquitin specific peptidase 7", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/usp7" }, { "slug": "usp9x", "symbol": "USP9X", "hgnc": "HGNC:12632", "name": "ubiquitin specific peptidase 9 X-linked", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/usp9x" }, { "slug": "vps37d", "symbol": "VPS37D", "hgnc": "HGNC:18287", "name": "VPS37D subunit of ESCRT-I", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/vps37d" }, { "slug": "wac", "symbol": "WAC", "hgnc": "HGNC:17327", "name": "WW domain containing adaptor with coiled-coil", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/wac" }, { "slug": "wdr26", "symbol": "WDR26", "hgnc": "HGNC:21208", "name": "WD repeat domain 26", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/wdr26" }, { "slug": "wdr35", "symbol": "WDR35", "hgnc": "HGNC:29250", "name": "WD repeat domain 35", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/wdr35" }, { "slug": "xylt1", "symbol": "XYLT1", "hgnc": "HGNC:15516", "name": "xylosyltransferase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/xylt1" }, { "slug": "xylt2", "symbol": "XYLT2", "hgnc": "HGNC:15517", "name": "xylosyltransferase 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/xylt2" }, { "slug": "zeb2", "symbol": "ZEB2", "hgnc": "HGNC:14881", "name": "zinc finger E-box binding homeobox 2", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/zeb2" }, { "slug": "apc2", "symbol": "APC2", "hgnc": "HGNC:24036", "name": "APC regulator of Wnt signaling pathway 2", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/apc2" }, { "slug": "myt1l", "symbol": "MYT1L", "hgnc": "HGNC:7623", "name": "myelin transcription factor 1 like", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/myt1l" }, { "slug": "nalcn", "symbol": "NALCN", "hgnc": "HGNC:19082", "name": "sodium leak channel, non-selective", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/nalcn" }, { "slug": "nr2f1", "symbol": "NR2F1", "hgnc": "HGNC:7975", "name": "nuclear receptor subfamily 2 group F member 1", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/nr2f1" }, { "slug": "abcc6", "symbol": "ABCC6", "hgnc": "HGNC:57", "name": "ATP binding cassette subfamily C member 6", "diseases": 1, "url": "https://dantelabs.com/genes/abcc6" }, { "slug": "aldh18a1", "symbol": "ALDH18A1", "hgnc": "HGNC:9722", "name": "aldehyde dehydrogenase 18 family member A1", "diseases": 1, "url": "https://dantelabs.com/genes/aldh18a1" }, { "slug": "ap1b1", "symbol": "AP1B1", "hgnc": "HGNC:554", "name": "adaptor related protein complex 1 subunit beta 1", "diseases": 1, "url": "https://dantelabs.com/genes/ap1b1" }, { "slug": "atp6v0a2", "symbol": "ATP6V0A2", "hgnc": "HGNC:18481", "name": "ATPase H+ transporting V0 subunit a2", "diseases": 1, "url": "https://dantelabs.com/genes/atp6v0a2" }, { "slug": "b3glct", "symbol": "B3GLCT", "hgnc": "HGNC:20207", "name": "beta 3-glucosyltransferase", "diseases": 1, "url": "https://dantelabs.com/genes/b3glct" }, { "slug": "bfsp2", "symbol": "BFSP2", "hgnc": "HGNC:1041", "name": "beaded filament structural protein 2", "diseases": 1, "url": "https://dantelabs.com/genes/bfsp2" }, { "slug": "bloc1s3", "symbol": "BLOC1S3", "hgnc": "HGNC:20914", "name": "biogenesis of lysosomal organelles complex 1 subunit 3", "diseases": 1, "url": "https://dantelabs.com/genes/bloc1s3" }, { "slug": "c12orf57", "symbol": "C12orf57", "hgnc": "HGNC:29521", "name": "chromosome 12 open reading frame 57", "diseases": 1, "url": "https://dantelabs.com/genes/c12orf57" }, { "slug": "cant1", "symbol": "CANT1", "hgnc": "HGNC:19721", "name": "calcium activated nucleotidase 1", "diseases": 1, "url": "https://dantelabs.com/genes/cant1" }, { "slug": "cfap418", "symbol": "CFAP418", "hgnc": "HGNC:27232", "name": "cilia and flagella associated protein 418", "diseases": 1, "url": "https://dantelabs.com/genes/cfap418" }, { "slug": "col4a1", "symbol": "COL4A1", "hgnc": "HGNC:2202", "name": "collagen type IV alpha 1 chain", "diseases": 1, "url": "https://dantelabs.com/genes/col4a1" }, { "slug": "col4a3", "symbol": "COL4A3", "hgnc": "HGNC:2204", "name": "collagen type IV alpha 3 chain", "diseases": 2, "url": "https://dantelabs.com/genes/col4a3" }, { "slug": "col4a4", "symbol": "COL4A4", "hgnc": "HGNC:2206", "name": "collagen type IV alpha 4 chain", "diseases": 2, "url": "https://dantelabs.com/genes/col4a4" }, { "slug": "col5a1", "symbol": "COL5A1", "hgnc": "HGNC:2209", "name": "collagen type V alpha 1 chain", "diseases": 1, "url": "https://dantelabs.com/genes/col5a1" }, { "slug": "dnajc21", "symbol": "DNAJC21", "hgnc": "HGNC:27030", "name": "DnaJ heat shock protein family (Hsp40) member C21", "diseases": 1, "url": "https://dantelabs.com/genes/dnajc21" }, { "slug": "eif2s3", "symbol": "EIF2S3", "hgnc": "HGNC:3267", "name": "eukaryotic translation initiation factor 2 subunit gamma", "diseases": 1, "url": "https://dantelabs.com/genes/eif2s3" }, { "slug": "epha2", "symbol": "EPHA2", "hgnc": "HGNC:3386", "name": "EPH receptor A2", "diseases": 1, "url": "https://dantelabs.com/genes/epha2" }, { "slug": "fbn2", "symbol": "FBN2", "hgnc": "HGNC:3604", "name": "fibrillin 2", "diseases": 1, "url": "https://dantelabs.com/genes/fbn2" }, { "slug": "gjc2", "symbol": "GJC2", "hgnc": "HGNC:17494", "name": "gap junction protein gamma 2", "diseases": 1, "url": "https://dantelabs.com/genes/gjc2" }, { "slug": "gle1", "symbol": "GLE1", "hgnc": "HGNC:4315", "name": "GLE1 RNA export mediator", "diseases": 1, "url": "https://dantelabs.com/genes/gle1" }, { "slug": "glrb", "symbol": "GLRB", "hgnc": "HGNC:4329", "name": "glycine receptor beta", "diseases": 1, "url": "https://dantelabs.com/genes/glrb" }, { "slug": "htt", "symbol": "HTT", "hgnc": "HGNC:4851", "name": "huntingtin", "diseases": 1, "url": "https://dantelabs.com/genes/htt" }, { "slug": "huwe1", "symbol": "HUWE1", "hgnc": "HGNC:30892", "name": "HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1", "diseases": 1, "url": "https://dantelabs.com/genes/huwe1" }, { "slug": "ifih1", "symbol": "IFIH1", "hgnc": "HGNC:18873", "name": "interferon induced with helicase C domain 1", "diseases": 1, "url": "https://dantelabs.com/genes/ifih1" }, { "slug": "jag1", "symbol": "JAG1", "hgnc": "HGNC:6188", "name": "jagged canonical Notch ligand 1", "diseases": 1, "url": "https://dantelabs.com/genes/jag1" }, { "slug": "kcnh1", "symbol": "KCNH1", "hgnc": "HGNC:6250", "name": "potassium voltage-gated channel subfamily H member 1", "diseases": 1, "url": "https://dantelabs.com/genes/kcnh1" }, { "slug": "kcnv2", "symbol": "KCNV2", "hgnc": "HGNC:19698", "name": "potassium voltage-gated channel modifier subfamily V member 2", "diseases": 1, "url": "https://dantelabs.com/genes/kcnv2" }, { "slug": "mbd5", "symbol": "MBD5", "hgnc": "HGNC:20444", "name": "methyl-CpG binding domain protein 5", "diseases": 1, "url": "https://dantelabs.com/genes/mbd5" }, { "slug": "mc1r", "symbol": "MC1R", "hgnc": "HGNC:6929", "name": "melanocortin 1 receptor", "diseases": 1, "url": "https://dantelabs.com/genes/mc1r" }, { "slug": "oca2", "symbol": "OCA2", "hgnc": "HGNC:8101", "name": "OCA2 melanosomal transmembrane protein", "diseases": 1, "url": "https://dantelabs.com/genes/oca2" }, { "slug": "optn", "symbol": "OPTN", "hgnc": "HGNC:17142", "name": "optineurin", "diseases": 1, "url": "https://dantelabs.com/genes/optn" }, { "slug": "pacs1", "symbol": "PACS1", "hgnc": "HGNC:30032", "name": "phosphofurin acidic cluster sorting protein 1", "diseases": 1, "url": "https://dantelabs.com/genes/pacs1" }, { "slug": "pik3ca", "symbol": "PIK3CA", "hgnc": "HGNC:8975", "name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha", "diseases": 1, "url": "https://dantelabs.com/genes/pik3ca" }, { "slug": "ptpn11", "symbol": "PTPN11", "hgnc": "HGNC:9644", "name": "protein tyrosine phosphatase non-receptor type 11", "diseases": 1, "url": "https://dantelabs.com/genes/ptpn11" }, { "slug": "recql4", "symbol": "RECQL4", "hgnc": "HGNC:9949", "name": "RecQ like helicase 4", "diseases": 1, "url": "https://dantelabs.com/genes/recql4" }, { "slug": "rp1", "symbol": "RP1", "hgnc": "HGNC:10263", "name": "RP1 axonemal microtubule associated", "diseases": 1, "url": "https://dantelabs.com/genes/rp1" }, { "slug": "smarcal1", "symbol": "SMARCAL1", "hgnc": "HGNC:11102", "name": "SNF2 related chromatin remodeling annealing helicase 1", "diseases": 1, "url": "https://dantelabs.com/genes/smarcal1" }, { "slug": "srcap", "symbol": "SRCAP", "hgnc": "HGNC:16974", "name": "Snf2 related CREBBP activator protein", "diseases": 1, "url": "https://dantelabs.com/genes/srcap" }, { "slug": "tcf20", "symbol": "TCF20", "hgnc": "HGNC:11631", "name": "transcription factor 20", "diseases": 1, "url": "https://dantelabs.com/genes/tcf20" }, { "slug": "tdo2", "symbol": "TDO2", "hgnc": "HGNC:11708", "name": "tryptophan 2,3-dioxygenase", "diseases": 1, "url": "https://dantelabs.com/genes/tdo2" }, { "slug": "tead1", "symbol": "TEAD1", "hgnc": "HGNC:11714", "name": "TEA domain transcription factor 1", "diseases": 1, "url": "https://dantelabs.com/genes/tead1" }, { "slug": "tfap2a", "symbol": "TFAP2A", "hgnc": "HGNC:11742", "name": "transcription factor AP-2 alpha", "diseases": 1, "url": "https://dantelabs.com/genes/tfap2a" }, { "slug": "thg1l", "symbol": "THG1L", "hgnc": "HGNC:26053", "name": "tRNA-histidine guanylyltransferase 1 like", "diseases": 1, "url": "https://dantelabs.com/genes/thg1l" }, { "slug": "timm8a", "symbol": "TIMM8A", "hgnc": "HGNC:11817", "name": "translocase of inner mitochondrial membrane 8A", "diseases": 1, "url": "https://dantelabs.com/genes/timm8a" }, { "slug": "tmem94", "symbol": "TMEM94", "hgnc": "HGNC:28983", "name": "transmembrane protein 94", "diseases": 1, "url": "https://dantelabs.com/genes/tmem94" }, { "slug": "trit1", "symbol": "TRIT1", "hgnc": "HGNC:20286", "name": "tRNA isopentenyltransferase 1", "diseases": 1, "url": "https://dantelabs.com/genes/trit1" }, { "slug": "trnt1", "symbol": "TRNT1", "hgnc": "HGNC:17341", "name": "tRNA nucleotidyl transferase 1", "diseases": 1, "url": "https://dantelabs.com/genes/trnt1" }, { "slug": "tyr", "symbol": "TYR", "hgnc": "HGNC:12442", "name": "tyrosinase", "diseases": 1, "url": "https://dantelabs.com/genes/tyr" }, { "slug": "ube3a", "symbol": "UBE3A", "hgnc": "HGNC:12496", "name": "ubiquitin protein ligase E3A", "diseases": 1, "url": "https://dantelabs.com/genes/ube3a" }, { "slug": "uchl1", "symbol": "UCHL1", "hgnc": "HGNC:12513", "name": "ubiquitin C-terminal hydrolase L1", "diseases": 1, "url": "https://dantelabs.com/genes/uchl1" }, { "slug": "znf469", "symbol": "ZNF469", "hgnc": "HGNC:23216", "name": "zinc finger protein 469", "diseases": 1, "url": "https://dantelabs.com/genes/znf469" } ] } }