{ "url": "https://dantelabs.com/traits/short-neck", "trait": { "bundleId": "2026.10.18-e609d43e", "release": "2026-09-01", "slug": "short-neck", "id": "HP:0000470", "name": "Short neck", "definition": "Diminished length of the neck.", "synonyms": [ "Decreased length of neck" ], "systems": [ { "slug": "abnormality-of-head-or-neck", "name": "Abnormality of head or neck", "url": "https://dantelabs.com/traits/abnormality-of-head-or-neck" }, { "slug": "abnormality-of-the-musculoskeletal-system", "name": "Abnormality of the musculoskeletal system", "url": "https://dantelabs.com/traits/abnormality-of-the-musculoskeletal-system" } ], "broader": [ { "slug": "abnormality-of-the-cervical-spine", "name": "Abnormal cervical spine", "url": "https://dantelabs.com/traits/abnormality-of-the-cervical-spine" }, { "slug": "abnormal-neck-morphology", "name": "Abnormal neck morphology", "url": "https://dantelabs.com/traits/abnormal-neck-morphology" } ], "narrower": [], "genes": [ { "slug": "acan", "symbol": "ACAN", "hgnc": "HGNC:319", "name": "aggrecan", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/acan" }, { "slug": "alg9", "symbol": "ALG9", "hgnc": "HGNC:15672", "name": "ALG9 alpha-1,2-mannosyltransferase", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/alg9" }, { "slug": "ammecr1", "symbol": "AMMECR1", "hgnc": "HGNC:467", "name": "AMMECR nuclear protein 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ammecr1" }, { "slug": "braf", "symbol": "BRAF", "hgnc": "HGNC:1097", "name": "B-Raf proto-oncogene, serine/threonine kinase", "frequency": "obligate", "diseases": 5, "url": "https://dantelabs.com/genes/braf" }, { "slug": "brf1", "symbol": "BRF1", "hgnc": "HGNC:11551", "name": "BRF1 general transcription factor IIIB subunit", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/brf1" }, { "slug": "cog1", "symbol": "COG1", "hgnc": "HGNC:6545", "name": "component of oligomeric golgi complex 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/cog1" }, { "slug": "cog7", "symbol": "COG7", "hgnc": "HGNC:18622", "name": "component of oligomeric golgi complex 7", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/cog7" }, { "slug": "col2a1", "symbol": "COL2A1", "hgnc": "HGNC:2200", "name": "collagen type II alpha 1 chain", "frequency": "obligate", "diseases": 7, "url": "https://dantelabs.com/genes/col2a1" }, { "slug": "cul7", "symbol": "CUL7", "hgnc": "HGNC:21024", "name": "cullin 7", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/cul7" }, { "slug": "ddrgk1", "symbol": "DDRGK1", "hgnc": "HGNC:16110", "name": "DDRGK domain containing 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/ddrgk1" }, { "slug": "dmrt2", "symbol": "DMRT2", "hgnc": "HGNC:2935", "name": "doublesex and mab-3 related transcription factor 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/dmrt2" }, { "slug": "donson", "symbol": "DONSON", "hgnc": "HGNC:2993", "name": "DNA replication fork stabilization factor DONSON", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/donson" }, { "slug": "dym", "symbol": "DYM", "hgnc": "HGNC:21317", "name": "dymeclin", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/dym" }, { "slug": "ecel1", "symbol": "ECEL1", "hgnc": "HGNC:3147", "name": "endothelin converting enzyme like 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ecel1" }, { "slug": "fanci", "symbol": "FANCI", "hgnc": "HGNC:25568", "name": "FA complementation group I", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/fanci" }, { "slug": "fgd1", "symbol": "FGD1", "hgnc": "HGNC:3663", "name": "FYVE, RhoGEF and PH domain containing 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/fgd1" }, { "slug": "fgfr3", "symbol": "FGFR3", "hgnc": "HGNC:3690", "name": "fibroblast growth factor receptor 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/fgfr3" }, { "slug": "fhl1", "symbol": "FHL1", "hgnc": "HGNC:3702", "name": "four and a half LIM domains 1", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/fhl1" }, { "slug": "flna", "symbol": "FLNA", "hgnc": "HGNC:3754", "name": "filamin A", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/flna" }, { "slug": "flvcr1", "symbol": "FLVCR1", "hgnc": "HGNC:24682", "name": "FLVCR choline and heme transporter 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/flvcr1" }, { "slug": "fto", "symbol": "FTO", "hgnc": "HGNC:24678", "name": "FTO alpha-ketoglutarate dependent dioxygenase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/fto" }, { "slug": "galns", "symbol": "GALNS", "hgnc": "HGNC:4122", "name": "galactosamine (N-acetyl)-6-sulfatase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/galns" }, { "slug": "gnpnat1", "symbol": "GNPNAT1", "hgnc": "HGNC:19980", "name": "glucosamine-phosphate N-acetyltransferase 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/gnpnat1" }, { "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": "hyal2", "symbol": "HYAL2", "hgnc": "HGNC:5321", "name": "hyaluronidase 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/hyal2" }, { "slug": "ift140", "symbol": "IFT140", "hgnc": "HGNC:29077", "name": "intraflagellar transport 140", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/ift140" }, { "slug": "igbp1", "symbol": "IGBP1", "hgnc": "HGNC:5461", "name": "immunoglobulin binding protein 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/igbp1" }, { "slug": "il6st", "symbol": "IL6ST", "hgnc": "HGNC:6021", "name": "interleukin 6 cytokine family signal transducer", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/il6st" }, { "slug": "intu", "symbol": "INTU", "hgnc": "HGNC:29239", "name": "inturned planar cell polarity protein", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/intu" }, { "slug": "kif7", "symbol": "KIF7", "hgnc": "HGNC:30497", "name": "kinesin family member 7", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/kif7" }, { "slug": "lama5", "symbol": "LAMA5", "hgnc": "HGNC:6485", "name": "laminin subunit alpha 5", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/lama5" }, { "slug": "mrpl12", "symbol": "MRPL12", "hgnc": "HGNC:10378", "name": "mitochondrial ribosomal protein L12", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/mrpl12" }, { "slug": "mrps28", "symbol": "MRPS28", "hgnc": "HGNC:14513", "name": "mitochondrial ribosomal protein S28", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/mrps28" }, { "slug": "myh3", "symbol": "MYH3", "hgnc": "HGNC:7573", "name": "myosin heavy chain 3", "frequency": "obligate", "diseases": 5, "url": "https://dantelabs.com/genes/myh3" }, { "slug": "nek9", "symbol": "NEK9", "hgnc": "HGNC:18591", "name": "NIMA related kinase 9", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nek9" }, { "slug": "nkx3-2", "symbol": "NKX3-2", "hgnc": "HGNC:951", "name": "NK3 homeobox 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nkx3-2" }, { "slug": "nlrp1", "symbol": "NLRP1", "hgnc": "HGNC:14374", "name": "NLR family pyrin domain containing 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nlrp1" }, { "slug": "nras", "symbol": "NRAS", "hgnc": "HGNC:7989", "name": "NRAS proto-oncogene, GTPase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nras" }, { "slug": "nup188", "symbol": "NUP188", "hgnc": "HGNC:17859", "name": "nucleoporin 188", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nup188" }, { "slug": "paics", "symbol": "PAICS", "hgnc": "HGNC:8587", "name": "phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/paics" }, { "slug": "palb2", "symbol": "PALB2", "hgnc": "HGNC:26144", "name": "partner and localizer of BRCA2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/palb2" }, { "slug": "pgap1", "symbol": "PGAP1", "hgnc": "HGNC:25712", "name": "post-GPI attachment to proteins inositol deacylase 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pgap1" }, { "slug": "phgdh", "symbol": "PHGDH", "hgnc": "HGNC:8923", "name": "phosphoglycerate dehydrogenase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/phgdh" }, { "slug": "prmt7", "symbol": "PRMT7", "hgnc": "HGNC:25557", "name": "protein arginine methyltransferase 7", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/prmt7" }, { "slug": "rab33b", "symbol": "RAB33B", "hgnc": "HGNC:16075", "name": "RAB33B, member RAS oncogene family", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rab33b" }, { "slug": "rab5if", "symbol": "RAB5IF", "hgnc": "HGNC:15870", "name": "RAB5 interacting factor", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rab5if" }, { "slug": "scn4a", "symbol": "SCN4A", "hgnc": "HGNC:10591", "name": "sodium voltage-gated channel alpha subunit 4", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/scn4a" }, { "slug": "smarcal1", "symbol": "SMARCAL1", "hgnc": "HGNC:11102", "name": "SNF2 related chromatin remodeling annealing helicase 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/smarcal1" }, { "slug": "sos2", "symbol": "SOS2", "hgnc": "HGNC:11188", "name": "SOS Ras/Rho guanine nucleotide exchange factor 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/sos2" }, { "slug": "spred2", "symbol": "SPRED2", "hgnc": "HGNC:17722", "name": "sprouty related EVH1 domain containing 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/spred2" }, { "slug": "tbx15", "symbol": "TBX15", "hgnc": "HGNC:11594", "name": "T-box transcription factor 15", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/tbx15" }, { "slug": "tbx5", "symbol": "TBX5", "hgnc": "HGNC:11604", "name": "T-box transcription factor 5", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/tbx5" }, { "slug": "tecpr2", "symbol": "TECPR2", "hgnc": "HGNC:19957", "name": "tectonin beta-propeller repeat containing 2", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/tecpr2" }, { "slug": "timm50", "symbol": "TIMM50", "hgnc": "HGNC:23656", "name": "translocase of inner mitochondrial membrane 50", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/timm50" }, { "slug": "tor1a", "symbol": "TOR1A", "hgnc": "HGNC:3098", "name": "torsin family 1 member A", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/tor1a" }, { "slug": "trip11", "symbol": "TRIP11", "hgnc": "HGNC:12305", "name": "thyroid hormone receptor interactor 11", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/trip11" }, { "slug": "trpv4", "symbol": "TRPV4", "hgnc": "HGNC:18083", "name": "transient receptor potential cation channel subfamily V member 4", "frequency": "obligate", "diseases": 4, "url": "https://dantelabs.com/genes/trpv4" }, { "slug": "txndc15", "symbol": "TXNDC15", "hgnc": "HGNC:20652", "name": "thioredoxin domain containing 15", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/txndc15" }, { "slug": "wdr35", "symbol": "WDR35", "hgnc": "HGNC:29250", "name": "WD repeat domain 35", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/wdr35" }, { "slug": "antxr2", "symbol": "ANTXR2", "hgnc": "HGNC:21732", "name": "ANTXR cell adhesion molecule 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/antxr2" }, { "slug": "b3glct", "symbol": "B3GLCT", "hgnc": "HGNC:20207", "name": "beta 3-glucosyltransferase", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/b3glct" }, { "slug": "bmper", "symbol": "BMPER", "hgnc": "HGNC:24154", "name": "BMP binding endothelial regulator", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/bmper" }, { "slug": "brd4", "symbol": "BRD4", "hgnc": "HGNC:13575", "name": "bromodomain containing 4", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/brd4" }, { "slug": "cant1", "symbol": "CANT1", "hgnc": "HGNC:19721", "name": "calcium activated nucleotidase 1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/cant1" }, { "slug": "ccdc8", "symbol": "CCDC8", "hgnc": "HGNC:25367", "name": "coiled-coil domain containing 8 subunit of 3M complex", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ccdc8" }, { "slug": "cd96", "symbol": "CD96", "hgnc": "HGNC:16892", "name": "CD96 molecule", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cd96" }, { "slug": "cdh11", "symbol": "CDH11", "hgnc": "HGNC:1750", "name": "cadherin 11", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cdh11" }, { "slug": "col11a1", "symbol": "COL11A1", "hgnc": "HGNC:2186", "name": "collagen type XI alpha 1 chain", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/col11a1" }, { "slug": "col11a2", "symbol": "COL11A2", "hgnc": "HGNC:2187", "name": "collagen type XI alpha 2 chain", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/col11a2" }, { "slug": "csgalnact1", "symbol": "CSGALNACT1", "hgnc": "HGNC:24290", "name": "chondroitin sulfate N-acetylgalactosaminyltransferase 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/csgalnact1" }, { "slug": "cul4b", "symbol": "CUL4B", "hgnc": "HGNC:2555", "name": "cullin 4B", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cul4b" }, { "slug": "dll3", "symbol": "DLL3", "hgnc": "HGNC:2909", "name": "delta like canonical Notch ligand 3", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/dll3" }, { "slug": "fam20c", "symbol": "FAM20C", "hgnc": "HGNC:22140", "name": "FAM20C golgi associated secretory pathway kinase", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/fam20c" }, { "slug": "gdf3", "symbol": "GDF3", "hgnc": "HGNC:4218", "name": "growth differentiation factor 3", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gdf3" }, { "slug": "gdf6", "symbol": "GDF6", "hgnc": "HGNC:4221", "name": "growth differentiation factor 6", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/gdf6" }, { "slug": "hdac8", "symbol": "HDAC8", "hgnc": "HGNC:13315", "name": "histone deacetylase 8", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/hdac8" }, { "slug": "hes7", "symbol": "HES7", "hgnc": "HGNC:15977", "name": "hes family bHLH transcription factor 7", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/hes7" }, { "slug": "hnf1b", "symbol": "HNF1B", "hgnc": "HGNC:11630", "name": "HNF1 homeobox B", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hnf1b" }, { "slug": "hras", "symbol": "HRAS", "hgnc": "HGNC:5173", "name": "HRas proto-oncogene, GTPase", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/hras" }, { "slug": "idua", "symbol": "IDUA", "hgnc": "HGNC:5391", "name": "alpha-L-iduronidase", "frequency": "very-frequent", "diseases": 3, "url": "https://dantelabs.com/genes/idua" }, { "slug": "inppl1", "symbol": "INPPL1", "hgnc": "HGNC:6080", "name": "inositol polyphosphate phosphatase like 1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/inppl1" }, { "slug": "kras", "symbol": "KRAS", "hgnc": "HGNC:6407", "name": "KRas proto-oncogene, GTPase", "frequency": "very-frequent", "diseases": 4, "url": "https://dantelabs.com/genes/kras" }, { "slug": "lfng", "symbol": "LFNG", "hgnc": "HGNC:6560", "name": "LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/lfng" }, { "slug": "lhx3", "symbol": "LHX3", "hgnc": "HGNC:6595", "name": "LIM homeobox 3", "frequency": "very-frequent", "diseases": 3, "url": "https://dantelabs.com/genes/lhx3" }, { "slug": "mau2", "symbol": "MAU2", "hgnc": "HGNC:29140", "name": "MAU2 sister chromatid cohesion factor", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mau2" }, { "slug": "meox1", "symbol": "MEOX1", "hgnc": "HGNC:7013", "name": "mesenchyme homeobox 1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/meox1" }, { "slug": "mesp2", "symbol": "MESP2", "hgnc": "HGNC:29659", "name": "mesoderm posterior bHLH transcription factor 2", "frequency": "very-frequent", "diseases": 3, "url": "https://dantelabs.com/genes/mesp2" }, { "slug": "nalcn", "symbol": "NALCN", "hgnc": "HGNC:19082", "name": "sodium leak channel, non-selective", "frequency": "very-frequent", "diseases": 3, "url": "https://dantelabs.com/genes/nalcn" }, { "slug": "nbas", "symbol": "NBAS", "hgnc": "HGNC:15625", "name": "NBAS subunit of NRZ tethering complex", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nbas" }, { "slug": "nbn", "symbol": "NBN", "hgnc": "HGNC:7652", "name": "nibrin", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nbn" }, { "slug": "nipbl", "symbol": "NIPBL", "hgnc": "HGNC:28862", "name": "NIPBL cohesin loading factor", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/nipbl" }, { "slug": "nr4a2", "symbol": "NR4A2", "hgnc": "HGNC:7981", "name": "nuclear receptor subfamily 4 group A member 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nr4a2" }, { "slug": "obsl1", "symbol": "OBSL1", "hgnc": "HGNC:29092", "name": "obscurin like cytoskeletal adaptor 1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/obsl1" }, { "slug": "pign", "symbol": "PIGN", "hgnc": "HGNC:8967", "name": "phosphatidylinositol glycan anchor biosynthesis class N", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/pign" }, { "slug": "psat1", "symbol": "PSAT1", "hgnc": "HGNC:19129", "name": "phosphoserine aminotransferase 1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/psat1" }, { "slug": "ptch1", "symbol": "PTCH1", "hgnc": "HGNC:9585", "name": "patched 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ptch1" }, { "slug": "rad21", "symbol": "RAD21", "hgnc": "HGNC:9811", "name": "RAD21 cohesin complex component", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rad21" }, { "slug": "ripply2", "symbol": "RIPPLY2", "hgnc": "HGNC:21390", "name": "ripply transcriptional repressor 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ripply2" }, { "slug": "rmrp", "symbol": "RMRP", "hgnc": "HGNC:10031", "name": "RNA component of mitochondrial RNA processing endoribonuclease", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/rmrp" }, { "slug": "rnu4atac", "symbol": "RNU4ATAC", "hgnc": "HGNC:34016", "name": "RNA, U4atac small nuclear", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/rnu4atac" }, { "slug": "rspry1", "symbol": "RSPRY1", "hgnc": "HGNC:29420", "name": "ring finger and SPRY domain containing 1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/rspry1" }, { "slug": "scyl2", "symbol": "SCYL2", "hgnc": "HGNC:19286", "name": "SCY1 like pseudokinase 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/scyl2" }, { "slug": "shox", "symbol": "SHOX", "hgnc": "HGNC:10853", "name": "SHOX homeobox", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/shox" }, { "slug": "slc26a2", "symbol": "SLC26A2", "hgnc": "HGNC:10994", "name": "solute carrier family 26 member 2", "frequency": "very-frequent", "diseases": 3, "url": "https://dantelabs.com/genes/slc26a2" }, { "slug": "slc35d1", "symbol": "SLC35D1", "hgnc": "HGNC:20800", "name": "solute carrier family 35 member D1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/slc35d1" }, { "slug": "smc1a", "symbol": "SMC1A", "hgnc": "HGNC:11111", "name": "structural maintenance of chromosomes 1A", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/smc1a" }, { "slug": "smc3", "symbol": "SMC3", "hgnc": "HGNC:2468", "name": "structural maintenance of chromosomes 3", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/smc3" }, { "slug": "sos1", "symbol": "SOS1", "hgnc": "HGNC:11187", "name": "SOS Ras/Rac guanine nucleotide exchange factor 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sos1" }, { "slug": "sox9", "symbol": "SOX9", "hgnc": "HGNC:11204", "name": "SRY-box transcription factor 9", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sox9" }, { "slug": "tbc1d7", "symbol": "TBC1D7", "hgnc": "HGNC:21066", "name": "TBC1 domain family member 7", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tbc1d7" }, { "slug": "tbl1xr1", "symbol": "TBL1XR1", "hgnc": "HGNC:29529", "name": "TBL1X/Y related 1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/tbl1xr1" }, { "slug": "tbr1", "symbol": "TBR1", "hgnc": "HGNC:11590", "name": "T-box brain transcription factor 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tbr1" }, { "slug": "tbx6", "symbol": "TBX6", "hgnc": "HGNC:11605", "name": "T-box transcription factor 6", "frequency": "very-frequent", "diseases": 3, "url": "https://dantelabs.com/genes/tbx6" }, { "slug": "tcf4", "symbol": "TCF4", "hgnc": "HGNC:11634", "name": "transcription factor 4", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/tcf4" }, { "slug": "tmco1", "symbol": "TMCO1", "hgnc": "HGNC:18188", "name": "transmembrane and coiled-coil domains 1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/tmco1" }, { "slug": "vps33a", "symbol": "VPS33A", "hgnc": "HGNC:18179", "name": "VPS33A core subunit of CORVET and HOPS complexes", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/vps33a" }, { "slug": "wnt4", "symbol": "WNT4", "hgnc": "HGNC:12783", "name": "Wnt family member 4", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/wnt4" }, { "slug": "xylt1", "symbol": "XYLT1", "hgnc": "HGNC:15516", "name": "xylosyltransferase 1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/xylt1" }, { "slug": "xylt2", "symbol": "XYLT2", "hgnc": "HGNC:15517", "name": "xylosyltransferase 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/xylt2" }, { "slug": "abcc9", "symbol": "ABCC9", "hgnc": "HGNC:60", "name": "ATP binding cassette subfamily C member 9", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/abcc9" }, { "slug": "actb", "symbol": "ACTB", "hgnc": "HGNC:132", "name": "actin beta", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/actb" }, { "slug": "actg1", "symbol": "ACTG1", "hgnc": "HGNC:144", "name": "actin gamma 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/actg1" }, { "slug": "alg8", "symbol": "ALG8", "hgnc": "HGNC:23161", "name": "ALG8 alpha-1,3-glucosyltransferase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/alg8" }, { "slug": "ankrd11", "symbol": "ANKRD11", "hgnc": "HGNC:21316", "name": "ankyrin repeat domain 11", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ankrd11" }, { "slug": "arvcf", "symbol": "ARVCF", "hgnc": "HGNC:728", "name": "ARVCF delta catenin family member", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/arvcf" }, { "slug": "atp6v1b2", "symbol": "ATP6V1B2", "hgnc": "HGNC:854", "name": "ATPase H+ transporting V1 subunit B2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/atp6v1b2" }, { "slug": "bbs2", "symbol": "BBS2", "hgnc": "HGNC:967", "name": "Bardet-Biedl syndrome 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/bbs2" }, { "slug": "bptf", "symbol": "BPTF", "hgnc": "HGNC:3581", "name": "bromodomain PHD finger transcription factor", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bptf" }, { "slug": "c2cd3", "symbol": "C2CD3", "hgnc": "HGNC:24564", "name": "C2 domain containing 3 centriole elongation regulator", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/c2cd3" }, { "slug": "cbl", "symbol": "CBL", "hgnc": "HGNC:1541", "name": "Cbl proto-oncogene", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cbl" }, { "slug": "chrng", "symbol": "CHRNG", "hgnc": "HGNC:1967", "name": "cholinergic receptor nicotinic gamma subunit", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/chrng" }, { "slug": "cldn11", "symbol": "CLDN11", "hgnc": "HGNC:8514", "name": "claudin 11", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cldn11" }, { "slug": "clp1", "symbol": "CLP1", "hgnc": "HGNC:16999", "name": "cleavage factor polyribonucleotide kinase subunit 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/clp1" }, { "slug": "cog8", "symbol": "COG8", "hgnc": "HGNC:18623", "name": "component of oligomeric golgi complex 8", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cog8" }, { "slug": "col12a1", "symbol": "COL12A1", "hgnc": "HGNC:2188", "name": "collagen type XII alpha 1 chain", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/col12a1" }, { "slug": "col6a1", "symbol": "COL6A1", "hgnc": "HGNC:2211", "name": "collagen type VI alpha 1 chain", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/col6a1" }, { "slug": "col6a2", "symbol": "COL6A2", "hgnc": "HGNC:2212", "name": "collagen type VI alpha 2 chain", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/col6a2" }, { "slug": "col6a3", "symbol": "COL6A3", "hgnc": "HGNC:2213", "name": "collagen type VI alpha 3 chain", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/col6a3" }, { "slug": "comt", "symbol": "COMT", "hgnc": "HGNC:2228", "name": "catechol-O-methyltransferase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/comt" }, { "slug": "ctnnd2", "symbol": "CTNND2", "hgnc": "HGNC:2516", "name": "catenin delta 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ctnnd2" }, { "slug": "dcc", "symbol": "DCC", "hgnc": "HGNC:2701", "name": "DCC netrin 1 receptor", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dcc" }, { "slug": "ddr2", "symbol": "DDR2", "hgnc": "HGNC:2731", "name": "discoidin domain receptor tyrosine kinase 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ddr2" }, { "slug": "ddx3x", "symbol": "DDX3X", "hgnc": "HGNC:2745", "name": "DEAD-box helicase 3 X-linked", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ddx3x" }, { "slug": "dhcr7", "symbol": "DHCR7", "hgnc": "HGNC:2860", "name": "7-dehydrocholesterol reductase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dhcr7" }, { "slug": "dlk1", "symbol": "DLK1", "hgnc": "HGNC:2907", "name": "delta like non-canonical Notch ligand 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dlk1" }, { "slug": "emd", "symbol": "EMD", "hgnc": "HGNC:3331", "name": "emerin", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/emd" }, { "slug": "ercc1", "symbol": "ERCC1", "hgnc": "HGNC:3433", "name": "ERCC excision repair 1, endonuclease non-catalytic subunit", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ercc1" }, { "slug": "ercc2", "symbol": "ERCC2", "hgnc": "HGNC:3434", "name": "ERCC excision repair 2, TFIIH core complex helicase subunit", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ercc2" }, { "slug": "ercc5", "symbol": "ERCC5", "hgnc": "HGNC:3437", "name": "ERCC excision repair 5, endonuclease", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ercc5" }, { "slug": "ercc6", "symbol": "ERCC6", "hgnc": "HGNC:3438", "name": "ERCC excision repair 6, chromatin remodeling factor", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ercc6" }, { "slug": "faap100", "symbol": "FAAP100", "hgnc": "HGNC:26171", "name": "FA core complex associated protein 100", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/faap100" }, { "slug": "fancb", "symbol": "FANCB", "hgnc": "HGNC:3583", "name": "FA complementation group B", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fancb" }, { "slug": "fastkd5", "symbol": "FASTKD5", "hgnc": "HGNC:25790", "name": "FASTK mitochondrial RNA regulator 5", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fastkd5" }, { "slug": "fgfr1", "symbol": "FGFR1", "hgnc": "HGNC:3688", "name": "fibroblast growth factor receptor 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fgfr1" }, { "slug": "fli1", "symbol": "FLI1", "hgnc": "HGNC:3749", "name": "Fli-1 proto-oncogene, ETS transcription factor", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fli1" }, { "slug": "gata4", "symbol": "GATA4", "hgnc": "HGNC:4173", "name": "GATA binding protein 4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gata4" }, { "slug": "gle1", "symbol": "GLE1", "hgnc": "HGNC:4315", "name": "GLE1 RNA export mediator", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/gle1" }, { "slug": "gnas", "symbol": "GNAS", "hgnc": "HGNC:4392", "name": "GNAS complex locus", "frequency": "frequent", "diseases": 6, "url": "https://dantelabs.com/genes/gnas" }, { "slug": "gnptab", "symbol": "GNPTAB", "hgnc": "HGNC:29670", "name": "N-acetylglucosamine-1-phosphate transferase subunits alpha and beta", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gnptab" }, { "slug": "gns", "symbol": "GNS", "hgnc": "HGNC:4422", "name": "glucosamine (N-acetyl)-6-sulfatase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gns" }, { "slug": "gp1bb", "symbol": "GP1BB", "hgnc": "HGNC:4440", "name": "glycoprotein Ib platelet subunit beta", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gp1bb" }, { "slug": "gpc3", "symbol": "GPC3", "hgnc": "HGNC:4451", "name": "glypican 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gpc3" }, { "slug": "gpc4", "symbol": "GPC4", "hgnc": "HGNC:4452", "name": "glypican 4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gpc4" }, { "slug": "gpkow", "symbol": "GPKOW", "hgnc": "HGNC:30677", "name": "G-patch domain and KOW motifs", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gpkow" }, { "slug": "gusb", "symbol": "GUSB", "hgnc": "HGNC:4696", "name": "glucuronidase beta", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/gusb" }, { "slug": "hba1", "symbol": "HBA1", "hgnc": "HGNC:4823", "name": "hemoglobin subunit alpha 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hba1" }, { "slug": "hba2", "symbol": "HBA2", "hgnc": "HGNC:4824", "name": "hemoglobin subunit alpha 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hba2" }, { "slug": "hira", "symbol": "HIRA", "hgnc": "HGNC:4916", "name": "histone cell cycle regulator", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hira" }, { "slug": "hnrnpr", "symbol": "HNRNPR", "hgnc": "HGNC:5047", "name": "heterogeneous nuclear ribonucleoprotein R", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hnrnpr" }, { "slug": "hspg2", "symbol": "HSPG2", "hgnc": "HGNC:5273", "name": "heparan sulfate proteoglycan 2", "frequency": "frequent", "diseases": 3, "url": "https://dantelabs.com/genes/hspg2" }, { "slug": "ints1", "symbol": "INTS1", "hgnc": "HGNC:24555", "name": "integrator complex subunit 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ints1" }, { "slug": "jmjd1c", "symbol": "JMJD1C", "hgnc": "HGNC:12313", "name": "jumonji domain containing 1C", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/jmjd1c" }, { "slug": "kcnj8", "symbol": "KCNJ8", "hgnc": "HGNC:6269", "name": "potassium inwardly rectifying channel subfamily J member 8", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kcnj8" }, { "slug": "lztr1", "symbol": "LZTR1", "hgnc": "HGNC:6742", "name": "leucine zipper like post translational regulator 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/lztr1" }, { "slug": "map2k1", "symbol": "MAP2K1", "hgnc": "HGNC:6840", "name": "mitogen-activated protein kinase kinase 1", "frequency": "frequent", "diseases": 4, "url": "https://dantelabs.com/genes/map2k1" }, { "slug": "map2k2", "symbol": "MAP2K2", "hgnc": "HGNC:6842", "name": "mitogen-activated protein kinase kinase 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/map2k2" }, { "slug": "mapk1", "symbol": "MAPK1", "hgnc": "HGNC:6871", "name": "mitogen-activated protein kinase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mapk1" }, { "slug": "meg3", "symbol": "MEG3", "hgnc": "HGNC:14575", "name": "maternally expressed 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/meg3" }, { "slug": "mgat2", "symbol": "MGAT2", "hgnc": "HGNC:7045", "name": "alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mgat2" }, { "slug": "naa10", "symbol": "NAA10", "hgnc": "HGNC:18704", "name": "N-alpha-acetyltransferase 10, NatA catalytic subunit", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/naa10" }, { "slug": "nkx2-5", "symbol": "NKX2-5", "hgnc": "HGNC:2488", "name": "NK2 homeobox 5", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nkx2-5" }, { "slug": "notch2", "symbol": "NOTCH2", "hgnc": "HGNC:7882", "name": "notch receptor 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/notch2" }, { "slug": "notch3", "symbol": "NOTCH3", "hgnc": "HGNC:7883", "name": "notch receptor 3", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/notch3" }, { "slug": "nsd1", "symbol": "NSD1", "hgnc": "HGNC:14234", "name": "nuclear receptor binding SET domain protein 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nsd1" }, { "slug": "nup88", "symbol": "NUP88", "hgnc": "HGNC:8067", "name": "nucleoporin 88", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nup88" }, { "slug": "otud6b", "symbol": "OTUD6B", "hgnc": "HGNC:24281", "name": "OTU deubiquitinase 6B", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/otud6b" }, { "slug": "pafah1b1", "symbol": "PAFAH1B1", "hgnc": "HGNC:8574", "name": "platelet activating factor acetylhydrolase 1b regulatory subunit 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pafah1b1" }, { "slug": "pan2", "symbol": "PAN2", "hgnc": "HGNC:20074", "name": "poly(A) specific ribonuclease subunit PAN2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pan2" }, { "slug": "piga", "symbol": "PIGA", "hgnc": "HGNC:8957", "name": "phosphatidylinositol glycan anchor biosynthesis class A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/piga" }, { "slug": "pigy", "symbol": "PIGY", "hgnc": "HGNC:28213", "name": "phosphatidylinositol glycan anchor biosynthesis class Y", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/pigy" }, { "slug": "pkdcc", "symbol": "PKDCC", "hgnc": "HGNC:25123", "name": "protein kinase domain containing, cytoplasmic", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pkdcc" }, { "slug": "pogz", "symbol": "POGZ", "hgnc": "HGNC:18801", "name": "pogo transposable element derived with ZNF domain", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/pogz" }, { "slug": "polr3a", "symbol": "POLR3A", "hgnc": "HGNC:30074", "name": "RNA polymerase III subunit A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/polr3a" }, { "slug": "ppp1cb", "symbol": "PPP1CB", "hgnc": "HGNC:9282", "name": "protein phosphatase 1 catalytic subunit beta", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ppp1cb" }, { "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": "ptpn11", "symbol": "PTPN11", "hgnc": "HGNC:9644", "name": "protein tyrosine phosphatase non-receptor type 11", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ptpn11" }, { "slug": "puf60", "symbol": "PUF60", "hgnc": "HGNC:17042", "name": "poly(U) binding splicing factor 60", "frequency": "frequent", "diseases": 3, "url": "https://dantelabs.com/genes/puf60" }, { "slug": "raf1", "symbol": "RAF1", "hgnc": "HGNC:9829", "name": "Raf-1 proto-oncogene, serine/threonine kinase", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/raf1" }, { "slug": "rb1", "symbol": "RB1", "hgnc": "HGNC:9884", "name": "RB transcriptional corepressor 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rb1" }, { "slug": "rdh11", "symbol": "RDH11", "hgnc": "HGNC:17964", "name": "retinol dehydrogenase 11", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rdh11" }, { "slug": "rft1", "symbol": "RFT1", "hgnc": "HGNC:30220", "name": "RFT1 glycolipid translocator homolog", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rft1" }, { "slug": "ripk4", "symbol": "RIPK4", "hgnc": "HGNC:496", "name": "receptor interacting serine/threonine kinase 4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ripk4" }, { "slug": "rit1", "symbol": "RIT1", "hgnc": "HGNC:10023", "name": "Ras like without CAAX 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rit1" }, { "slug": "robo3", "symbol": "ROBO3", "hgnc": "HGNC:13433", "name": "roundabout guidance receptor 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/robo3" }, { "slug": "ror2", "symbol": "ROR2", "hgnc": "HGNC:10257", "name": "ROR family WNT receptor 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ror2" }, { "slug": "rreb1", "symbol": "RREB1", "hgnc": "HGNC:10449", "name": "ras responsive element binding protein 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rreb1" }, { "slug": "rtl1", "symbol": "RTL1", "hgnc": "HGNC:14665", "name": "retrotransposon Gag like 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rtl1" }, { "slug": "ryr1", "symbol": "RYR1", "hgnc": "HGNC:10483", "name": "ryanodine receptor 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ryr1" }, { "slug": "sec24c", "symbol": "SEC24C", "hgnc": "HGNC:10705", "name": "SEC24 homolog C, COPII component", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sec24c" }, { "slug": "sema5a", "symbol": "SEMA5A", "hgnc": "HGNC:10736", "name": "semaphorin 5A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sema5a" }, { "slug": "setbp1", "symbol": "SETBP1", "hgnc": "HGNC:15573", "name": "SET binding protein 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/setbp1" }, { "slug": "shoc2", "symbol": "SHOC2", "hgnc": "HGNC:15454", "name": "SHOC2 leucine rich repeat scaffold protein", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/shoc2" }, { "slug": "sms", "symbol": "SMS", "hgnc": "HGNC:11123", "name": "spermine synthase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sms" }, { "slug": "srcap", "symbol": "SRCAP", "hgnc": "HGNC:16974", "name": "Snf2 related CREBBP activator protein", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/srcap" }, { "slug": "stx16", "symbol": "STX16", "hgnc": "HGNC:11431", "name": "syntaxin 16", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/stx16" }, { "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": "tbx1", "symbol": "TBX1", "hgnc": "HGNC:11592", "name": "T-box transcription factor 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tbx1" }, { "slug": "tnni2", "symbol": "TNNI2", "hgnc": "HGNC:11946", "name": "troponin I2, fast skeletal type", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tnni2" }, { "slug": "tnnt3", "symbol": "TNNT3", "hgnc": "HGNC:11950", "name": "troponin T3, fast skeletal type", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tnnt3" }, { "slug": "tpm2", "symbol": "TPM2", "hgnc": "HGNC:12011", "name": "tropomyosin 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/tpm2" }, { "slug": "traf7", "symbol": "TRAF7", "hgnc": "HGNC:20456", "name": "TNF receptor associated factor 7", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/traf7" }, { "slug": "trappc2", "symbol": "TRAPPC2", "hgnc": "HGNC:23068", "name": "trafficking protein particle complex subunit 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/trappc2" }, { "slug": "trappc9", "symbol": "TRAPPC9", "hgnc": "HGNC:30832", "name": "trafficking protein particle complex subunit 9", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/trappc9" }, { "slug": "trmt10a", "symbol": "TRMT10A", "hgnc": "HGNC:28403", "name": "tRNA methyltransferase 10A", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/trmt10a" }, { "slug": "tubb", "symbol": "TUBB", "hgnc": "HGNC:20778", "name": "tubulin beta class I", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tubb" }, { "slug": "ube2a", "symbol": "UBE2A", "hgnc": "HGNC:12472", "name": "ubiquitin conjugating enzyme E2 A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ube2a" }, { "slug": "ufd1", "symbol": "UFD1", "hgnc": "HGNC:12520", "name": "ubiquitin recognition factor in ER associated degradation 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ufd1" }, { "slug": "wnt7a", "symbol": "WNT7A", "hgnc": "HGNC:12786", "name": "Wnt family member 7A", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/wnt7a" }, { "slug": "ywhae", "symbol": "YWHAE", "hgnc": "HGNC:12851", "name": "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ywhae" }, { "slug": "acta1", "symbol": "ACTA1", "hgnc": "HGNC:129", "name": "actin alpha 1, skeletal muscle", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/acta1" }, { "slug": "ada2", "symbol": "ADA2", "hgnc": "HGNC:1839", "name": "adenosine deaminase 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ada2" }, { "slug": "adat3", "symbol": "ADAT3", "hgnc": "HGNC:25151", "name": "adenosine deaminase tRNA specific 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/adat3" }, { "slug": "aff3", "symbol": "AFF3", "hgnc": "HGNC:6473", "name": "ALF transcription elongation factor 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/aff3" }, { "slug": "ahdc1", "symbol": "AHDC1", "hgnc": "HGNC:25230", "name": "AT-hook DNA binding motif containing 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ahdc1" }, { "slug": "apc", "symbol": "APC", "hgnc": "HGNC:583", "name": "APC regulator of Wnt signaling pathway", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/apc" }, { "slug": "arl6", "symbol": "ARL6", "hgnc": "HGNC:13210", "name": "ARF like GTPase 6", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/arl6" }, { "slug": "ascc3", "symbol": "ASCC3", "hgnc": "HGNC:18697", "name": "activating signal cointegrator 1 complex subunit 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ascc3" }, { "slug": "bap1", "symbol": "BAP1", "hgnc": "HGNC:950", "name": "BRCA1 associated deubiquitinase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bap1" }, { "slug": "bbip1", "symbol": "BBIP1", "hgnc": "HGNC:28093", "name": "BBSome interacting protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bbip1" }, { "slug": "bbs1", "symbol": "BBS1", "hgnc": "HGNC:966", "name": "Bardet-Biedl syndrome 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bbs1" }, { "slug": "bbs10", "symbol": "BBS10", "hgnc": "HGNC:26291", "name": "Bardet-Biedl syndrome 10", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bbs10" }, { "slug": "bbs12", "symbol": "BBS12", "hgnc": "HGNC:26648", "name": "Bardet-Biedl syndrome 12", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bbs12" }, { "slug": "bbs4", "symbol": "BBS4", "hgnc": "HGNC:969", "name": "Bardet-Biedl syndrome 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bbs4" }, { "slug": "bbs5", "symbol": "BBS5", "hgnc": "HGNC:970", "name": "Bardet-Biedl syndrome 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bbs5" }, { "slug": "bbs7", "symbol": "BBS7", "hgnc": "HGNC:18758", "name": "Bardet-Biedl syndrome 7", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bbs7" }, { "slug": "bbs9", "symbol": "BBS9", "hgnc": "HGNC:30000", "name": "Bardet-Biedl syndrome 9", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bbs9" }, { "slug": "brpf1", "symbol": "BRPF1", "hgnc": "HGNC:14255", "name": "bromodomain and PHD finger containing 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/brpf1" }, { "slug": "cachd1", "symbol": "CACHD1", "hgnc": "HGNC:29314", "name": "cache domain containing 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cachd1" }, { "slug": "ccdc22", "symbol": "CCDC22", "hgnc": "HGNC:28909", "name": "CCC complex scaffolding subunit CCDC22", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ccdc22" }, { "slug": "cep19", "symbol": "CEP19", "hgnc": "HGNC:28209", "name": "centrosomal protein 19", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cep19" }, { "slug": "cep290", "symbol": "CEP290", "hgnc": "HGNC:29021", "name": "centrosomal protein 290", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cep290" }, { "slug": "cfap418", "symbol": "CFAP418", "hgnc": "HGNC:27232", "name": "cilia and flagella associated protein 418", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cfap418" }, { "slug": "cfl2", "symbol": "CFL2", "hgnc": "HGNC:1875", "name": "cofilin 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cfl2" }, { "slug": "chn1", "symbol": "CHN1", "hgnc": "HGNC:1943", "name": "chimerin 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/chn1" }, { "slug": "cog5", "symbol": "COG5", "hgnc": "HGNC:14857", "name": "component of oligomeric golgi complex 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cog5" }, { "slug": "dhcr24", "symbol": "DHCR24", "hgnc": "HGNC:2859", "name": "24-dehydrocholesterol reductase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dhcr24" }, { "slug": "dpyd", "symbol": "DPYD", "hgnc": "HGNC:3012", "name": "dihydropyrimidine dehydrogenase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dpyd" }, { "slug": "dpysl5", "symbol": "DPYSL5", "hgnc": "HGNC:20637", "name": "dihydropyrimidinase like 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dpysl5" }, { "slug": "dvl1", "symbol": "DVL1", "hgnc": "HGNC:3084", "name": "dishevelled segment polarity protein 1", "frequency": "occasional", "diseases": 3, "url": "https://dantelabs.com/genes/dvl1" }, { "slug": "dvl3", "symbol": "DVL3", "hgnc": "HGNC:3087", "name": "dishevelled segment polarity protein 3", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/dvl3" }, { "slug": "ermard", "symbol": "ERMARD", "hgnc": "HGNC:21056", "name": "ER membrane associated RNA degradation", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ermard" }, { "slug": "esco2", "symbol": "ESCO2", "hgnc": "HGNC:27230", "name": "establishment of sister chromatid cohesion N-acetyltransferase 2", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/esco2" }, { "slug": "fancl", "symbol": "FANCL", "hgnc": "HGNC:20748", "name": "FA complementation group L", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fancl" }, { "slug": "filip1", "symbol": "FILIP1", "hgnc": "HGNC:21015", "name": "filamin A interacting protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/filip1" }, { "slug": "flnb", "symbol": "FLNB", "hgnc": "HGNC:3755", "name": "filamin B", "frequency": "occasional", "diseases": 4, "url": "https://dantelabs.com/genes/flnb" }, { "slug": "frem2", "symbol": "FREM2", "hgnc": "HGNC:25396", "name": "FRAS1 related extracellular matrix 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/frem2" }, { "slug": "fzd2", "symbol": "FZD2", "hgnc": "HGNC:4040", "name": "frizzled class receptor 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fzd2" }, { "slug": "gabra3", "symbol": "GABRA3", "hgnc": "HGNC:4077", "name": "gamma-aminobutyric acid type A receptor subunit alpha3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gabra3" }, { "slug": "gata1", "symbol": "GATA1", "hgnc": "HGNC:4170", "name": "GATA binding protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gata1" }, { "slug": "gja5", "symbol": "GJA5", "hgnc": "HGNC:4279", "name": "gap junction protein alpha 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gja5" }, { "slug": "gja8", "symbol": "GJA8", "hgnc": "HGNC:4281", "name": "gap junction protein alpha 8", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gja8" }, { "slug": "gli2", "symbol": "GLI2", "hgnc": "HGNC:4318", "name": "GLI family zinc finger 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gli2" }, { "slug": "h4c5", "symbol": "H4C5", "hgnc": "HGNC:4790", "name": "H4 clustered histone 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/h4c5" }, { "slug": "hdac4", "symbol": "HDAC4", "hgnc": "HGNC:14063", "name": "histone deacetylase 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/hdac4" }, { "slug": "heatr3", "symbol": "HEATR3", "hgnc": "HGNC:26087", "name": "HEAT repeat containing 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/heatr3" }, { "slug": "hectd4", "symbol": "HECTD4", "hgnc": "HGNC:26611", "name": "HECT domain E3 ubiquitin protein ligase 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/hectd4" }, { "slug": "hesx1", "symbol": "HESX1", "hgnc": "HGNC:4877", "name": "HESX homeobox 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/hesx1" }, { "slug": "hpdl", "symbol": "HPDL", "hgnc": "HGNC:28242", "name": "4-hydroxyphenylpyruvate dioxygenase like", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/hpdl" }, { "slug": "hs2st1", "symbol": "HS2ST1", "hgnc": "HGNC:5193", "name": "heparan sulfate 2-O-sulfotransferase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/hs2st1" }, { "slug": "idh1", "symbol": "IDH1", "hgnc": "HGNC:5382", "name": "isocitrate dehydrogenase (NADP(+)) 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/idh1" }, { "slug": "ift172", "symbol": "IFT172", "hgnc": "HGNC:30391", "name": "intraflagellar transport 172", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ift172" }, { "slug": "ift27", "symbol": "IFT27", "hgnc": "HGNC:18626", "name": "intraflagellar transport 27", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ift27" }, { "slug": "ift74", "symbol": "IFT74", "hgnc": "HGNC:21424", "name": "intraflagellar transport 74", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ift74" }, { "slug": "kcnh1", "symbol": "KCNH1", "hgnc": "HGNC:6250", "name": "potassium voltage-gated channel subfamily H member 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kcnh1" }, { "slug": "kcnn3", "symbol": "KCNN3", "hgnc": "HGNC:6292", "name": "potassium calcium-activated channel subfamily N member 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kcnn3" }, { "slug": "kiaa0586", "symbol": "KIAA0586", "hgnc": "HGNC:19960", "name": "KIAA0586", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kiaa0586" }, { "slug": "kif26a", "symbol": "KIF26A", "hgnc": "HGNC:20226", "name": "kinesin family member 26A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kif26a" }, { "slug": "klhl41", "symbol": "KLHL41", "hgnc": "HGNC:16905", "name": "kelch like family member 41", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/klhl41" }, { "slug": "lhx4", "symbol": "LHX4", "hgnc": "HGNC:21734", "name": "LIM homeobox 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lhx4" }, { "slug": "lmod3", "symbol": "LMOD3", "hgnc": "HGNC:6649", "name": "leiomodin 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lmod3" }, { "slug": "lmx1b", "symbol": "LMX1B", "hgnc": "HGNC:6654", "name": "LIM homeobox transcription factor 1 beta", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lmx1b" }, { "slug": "lztfl1", "symbol": "LZTFL1", "hgnc": "HGNC:6741", "name": "leucine zipper transcription factor like 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lztfl1" }, { "slug": "mab21l1", "symbol": "MAB21L1", "hgnc": "HGNC:6757", "name": "mab-21 like 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mab21l1" }, { "slug": "madd", "symbol": "MADD", "hgnc": "HGNC:6766", "name": "MAP kinase activating death domain", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/madd" }, { "slug": "mafb", "symbol": "MAFB", "hgnc": "HGNC:6408", "name": "MAF bZIP transcription factor B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mafb" }, { "slug": "man1b1", "symbol": "MAN1B1", "hgnc": "HGNC:6823", "name": "mannosidase alpha class 1B member 1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/man1b1" }, { "slug": "man2b1", "symbol": "MAN2B1", "hgnc": "HGNC:6826", "name": "mannosidase alpha class 2B member 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/man2b1" }, { "slug": "mapre2", "symbol": "MAPRE2", "hgnc": "HGNC:6891", "name": "microtubule associated protein RP/EB family member 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mapre2" }, { "slug": "med13l", "symbol": "MED13L", "hgnc": "HGNC:22962", "name": "mediator complex subunit 13L", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/med13l" }, { "slug": "megf8", "symbol": "MEGF8", "hgnc": "HGNC:3233", "name": "multiple EGF like domains 8", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/megf8" }, { "slug": "micu1", "symbol": "MICU1", "hgnc": "HGNC:1530", "name": "mitochondrial calcium uptake 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/micu1" }, { "slug": "mkks", "symbol": "MKKS", "hgnc": "HGNC:7108", "name": "MKKS centrosomal shuttling protein", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mkks" }, { "slug": "mks1", "symbol": "MKS1", "hgnc": "HGNC:7121", "name": "MKS transition zone complex subunit 1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/mks1" }, { "slug": "msl3", "symbol": "MSL3", "hgnc": "HGNC:7370", "name": "MSL complex subunit 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/msl3" }, { "slug": "myl11", "symbol": "MYL11", "hgnc": "HGNC:29824", "name": "myosin light chain 11", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/myl11" }, { "slug": "neb", "symbol": "NEB", "hgnc": "HGNC:7720", "name": "nebulin", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/neb" }, { "slug": "nphp1", "symbol": "NPHP1", "hgnc": "HGNC:7905", "name": "nephrocystin 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nphp1" }, { "slug": "nxn", "symbol": "NXN", "hgnc": "HGNC:18008", "name": "nucleoredoxin", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nxn" }, { "slug": "pgap2", "symbol": "PGAP2", "hgnc": "HGNC:17893", "name": "post-GPI attachment to proteins 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pgap2" }, { "slug": "pgap3", "symbol": "PGAP3", "hgnc": "HGNC:23719", "name": "post-GPI attachment to proteins phospholipase 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pgap3" }, { "slug": "pigl", "symbol": "PIGL", "hgnc": "HGNC:8966", "name": "phosphatidylinositol glycan anchor biosynthesis class L", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pigl" }, { "slug": "pigo", "symbol": "PIGO", "hgnc": "HGNC:23215", "name": "phosphatidylinositol glycan anchor biosynthesis class O", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pigo" }, { "slug": "pigv", "symbol": "PIGV", "hgnc": "HGNC:26031", "name": "phosphatidylinositol glycan anchor biosynthesis class V", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pigv" }, { "slug": "pigw", "symbol": "PIGW", "hgnc": "HGNC:23213", "name": "phosphatidylinositol glycan anchor biosynthesis class W", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pigw" }, { "slug": "plaat3", "symbol": "PLAAT3", "hgnc": "HGNC:17825", "name": "phospholipase A and acyltransferase 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/plaat3" }, { "slug": "plxna1", "symbol": "PLXNA1", "hgnc": "HGNC:9099", "name": "plexin A1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/plxna1" }, { "slug": "pop1", "symbol": "POP1", "hgnc": "HGNC:30129", "name": "POP1 ribonuclease P/MRP subunit", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pop1" }, { "slug": "pou1f1", "symbol": "POU1F1", "hgnc": "HGNC:9210", "name": "POU class 1 homeobox 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pou1f1" }, { "slug": "ppp1r15b", "symbol": "PPP1R15B", "hgnc": "HGNC:14951", "name": "protein phosphatase 1 regulatory subunit 15B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ppp1r15b" }, { "slug": "prop1", "symbol": "PROP1", "hgnc": "HGNC:9455", "name": "PROP paired-like homeobox 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/prop1" }, { "slug": "rfx7", "symbol": "RFX7", "hgnc": "HGNC:25777", "name": "regulatory factor X7", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rfx7" }, { "slug": "rpl11", "symbol": "RPL11", "hgnc": "HGNC:10301", "name": "ribosomal protein L11", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rpl11" }, { "slug": "rpl15", "symbol": "RPL15", "hgnc": "HGNC:10306", "name": "ribosomal protein L15", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rpl15" }, { "slug": "rpl18", "symbol": "RPL18", "hgnc": "HGNC:10310", "name": "ribosomal protein L18", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rpl18" }, { "slug": "rpl26", "symbol": "RPL26", "hgnc": "HGNC:10327", "name": "ribosomal protein L26", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rpl26" }, { "slug": "rpl27", "symbol": "RPL27", "hgnc": "HGNC:10328", "name": "ribosomal protein L27", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rpl27" }, { "slug": "rpl31", "symbol": "RPL31", "hgnc": "HGNC:10334", "name": "ribosomal protein L31", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rpl31" }, { "slug": "rpl35", "symbol": "RPL35", "hgnc": "HGNC:10344", "name": "ribosomal protein L35", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rpl35" }, { "slug": "rpl35a", "symbol": "RPL35A", "hgnc": "HGNC:10345", "name": "ribosomal protein L35a", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rpl35a" }, { "slug": "rpl5", "symbol": "RPL5", "hgnc": "HGNC:10360", "name": "ribosomal protein L5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rpl5" }, { "slug": "rpl8", "symbol": "RPL8", "hgnc": "HGNC:10368", "name": "ribosomal protein L8", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rpl8" }, { "slug": "rpl9", "symbol": "RPL9", "hgnc": "HGNC:10369", "name": "ribosomal protein L9", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rpl9" }, { "slug": "rps10", "symbol": "RPS10", "hgnc": "HGNC:10383", "name": "ribosomal protein S10", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rps10" }, { "slug": "rps15a", "symbol": "RPS15A", "hgnc": "HGNC:10389", "name": "ribosomal protein S15a", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rps15a" }, { "slug": "rps17", "symbol": "RPS17", "hgnc": "HGNC:10397", "name": "ribosomal protein S17", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rps17" }, { "slug": "rps19", "symbol": "RPS19", "hgnc": "HGNC:10402", "name": "ribosomal protein S19", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/rps19" }, { "slug": "rps20", "symbol": "RPS20", "hgnc": "HGNC:10405", "name": "ribosomal protein S20", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rps20" }, { "slug": "rps24", "symbol": "RPS24", "hgnc": "HGNC:10411", "name": "ribosomal protein S24", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rps24" }, { "slug": "rps26", "symbol": "RPS26", "hgnc": "HGNC:10414", "name": "ribosomal protein S26", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rps26" }, { "slug": "rps27", "symbol": "RPS27", "hgnc": "HGNC:10416", "name": "ribosomal protein S27", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rps27" }, { "slug": "rps28", "symbol": "RPS28", "hgnc": "HGNC:10418", "name": "ribosomal protein S28", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rps28" }, { "slug": "rps29", "symbol": "RPS29", "hgnc": "HGNC:10419", "name": "ribosomal protein S29", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rps29" }, { "slug": "rps7", "symbol": "RPS7", "hgnc": "HGNC:10440", "name": "ribosomal protein S7", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rps7" }, { "slug": "sall4", "symbol": "SALL4", "hgnc": "HGNC:15924", "name": "spalt like transcription factor 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sall4" }, { "slug": "satb2", "symbol": "SATB2", "hgnc": "HGNC:21637", "name": "SATB homeobox 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/satb2" }, { "slug": "scaper", "symbol": "SCAPER", "hgnc": "HGNC:13081", "name": "S-phase cyclin A associated protein in the ER", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/scaper" }, { "slug": "sclt1", "symbol": "SCLT1", "hgnc": "HGNC:26406", "name": "sodium channel and clathrin linker 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sclt1" }, { "slug": "sdccag8", "symbol": "SDCCAG8", "hgnc": "HGNC:10671", "name": "SHH signaling and ciliogenesis regulator SDCCAG8", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sdccag8" }, { "slug": "setd5", "symbol": "SETD5", "hgnc": "HGNC:25566", "name": "SET domain containing 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/setd5" }, { "slug": "slc2a1", "symbol": "SLC2A1", "hgnc": "HGNC:11005", "name": "solute carrier family 2 member 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/slc2a1" }, { "slug": "snrpn", "symbol": "SNRPN", "hgnc": "HGNC:11164", "name": "small nuclear ribonucleoprotein polypeptide N", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/snrpn" }, { "slug": "srrm2", "symbol": "SRRM2", "hgnc": "HGNC:16639", "name": "serine/arginine repetitive matrix 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/srrm2" }, { "slug": "stxbp1", "symbol": "STXBP1", "hgnc": "HGNC:11444", "name": "syntaxin binding protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/stxbp1" }, { "slug": "tbck", "symbol": "TBCK", "hgnc": "HGNC:28261", "name": "TBC1 domain containing kinase", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/tbck" }, { "slug": "tbx2", "symbol": "TBX2", "hgnc": "HGNC:11597", "name": "T-box transcription factor 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tbx2" }, { "slug": "tctn2", "symbol": "TCTN2", "hgnc": "HGNC:25774", "name": "tectonic family member 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tctn2" }, { "slug": "tgds", "symbol": "TGDS", "hgnc": "HGNC:20324", "name": "TDP-glucose 4,6-dehydratase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tgds" }, { "slug": "trim32", "symbol": "TRIM32", "hgnc": "HGNC:16380", "name": "tripartite motif containing 32", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/trim32" }, { "slug": "trpm3", "symbol": "TRPM3", "hgnc": "HGNC:17992", "name": "transient receptor potential cation channel subfamily M member 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/trpm3" }, { "slug": "tsr2", "symbol": "TSR2", "hgnc": "HGNC:25455", "name": "TSR2 ribosome maturation factor", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tsr2" }, { "slug": "ttc8", "symbol": "TTC8", "hgnc": "HGNC:20087", "name": "tetratricopeptide repeat domain 8", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ttc8" }, { "slug": "vps35l", "symbol": "VPS35L", "hgnc": "HGNC:24641", "name": "VPS35 endosomal protein sorting factor like", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/vps35l" }, { "slug": "washc5", "symbol": "WASHC5", "hgnc": "HGNC:28984", "name": "WASH complex subunit 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/washc5" }, { "slug": "wdpcp", "symbol": "WDPCP", "hgnc": "HGNC:28027", "name": "WD repeat containing planar cell polarity effector", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/wdpcp" }, { "slug": "wnt5a", "symbol": "WNT5A", "hgnc": "HGNC:12784", "name": "Wnt family member 5A", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/wnt5a" }, { "slug": "wwox", "symbol": "WWOX", "hgnc": "HGNC:12799", "name": "WW domain containing oxidoreductase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/wwox" }, { "slug": "fn1", "symbol": "FN1", "hgnc": "HGNC:3778", "name": "fibronectin 1", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/fn1" }, { "slug": "ptbp1", "symbol": "PTBP1", "hgnc": "HGNC:9583", "name": "polypyrimidine tract binding protein 1", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/ptbp1" }, { "slug": "rnu4-2", "symbol": "RNU4-2", "hgnc": "HGNC:10193", "name": "RNA, U4 small nuclear 2", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/rnu4-2" }, { "slug": "smpd4", "symbol": "SMPD4", "hgnc": "HGNC:32949", "name": "sphingomyelin phosphodiesterase 4", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/smpd4" }, { "slug": "aebp1", "symbol": "AEBP1", "hgnc": "HGNC:303", "name": "AE binding protein 1", "diseases": 1, "url": "https://dantelabs.com/genes/aebp1" }, { "slug": "aifm1", "symbol": "AIFM1", "hgnc": "HGNC:8768", "name": "apoptosis inducing factor mitochondria associated 1", "diseases": 1, "url": "https://dantelabs.com/genes/aifm1" }, { "slug": "aldoa", "symbol": "ALDOA", "hgnc": "HGNC:414", "name": "aldolase, fructose-bisphosphate A", "diseases": 1, "url": "https://dantelabs.com/genes/aldoa" }, { "slug": "atrx", "symbol": "ATRX", "hgnc": "HGNC:886", "name": "ATRX chromatin remodeler", "diseases": 1, "url": "https://dantelabs.com/genes/atrx" }, { "slug": "b3galt6", "symbol": "B3GALT6", "hgnc": "HGNC:17978", "name": "beta-1,3-galactosyltransferase 6", "diseases": 1, "url": "https://dantelabs.com/genes/b3galt6" }, { "slug": "b3gat3", "symbol": "B3GAT3", "hgnc": "HGNC:923", "name": "beta-1,3-glucuronyltransferase 3", "diseases": 1, "url": "https://dantelabs.com/genes/b3gat3" }, { "slug": "bub1b", "symbol": "BUB1B", "hgnc": "HGNC:1149", "name": "BUB1 mitotic checkpoint serine/threonine kinase B", "diseases": 1, "url": "https://dantelabs.com/genes/bub1b" }, { "slug": "cdk5", "symbol": "CDK5", "hgnc": "HGNC:1774", "name": "cyclin dependent kinase 5", "diseases": 1, "url": "https://dantelabs.com/genes/cdk5" }, { "slug": "cep55", "symbol": "CEP55", "hgnc": "HGNC:1161", "name": "centrosomal protein 55", "diseases": 1, "url": "https://dantelabs.com/genes/cep55" }, { "slug": "chst3", "symbol": "CHST3", "hgnc": "HGNC:1971", "name": "carbohydrate sulfotransferase 3", "diseases": 2, "url": "https://dantelabs.com/genes/chst3" }, { "slug": "crlf1", "symbol": "CRLF1", "hgnc": "HGNC:2364", "name": "cytokine receptor like factor 1", "diseases": 1, "url": "https://dantelabs.com/genes/crlf1" }, { "slug": "dok7", "symbol": "DOK7", "hgnc": "HGNC:26594", "name": "docking protein 7", "diseases": 1, "url": "https://dantelabs.com/genes/dok7" }, { "slug": "ebp", "symbol": "EBP", "hgnc": "HGNC:3133", "name": "EBP cholestenol delta-isomerase", "diseases": 1, "url": "https://dantelabs.com/genes/ebp" }, { "slug": "efnb1", "symbol": "EFNB1", "hgnc": "HGNC:3226", "name": "ephrin B1", "diseases": 1, "url": "https://dantelabs.com/genes/efnb1" }, { "slug": "exoc6b", "symbol": "EXOC6B", "hgnc": "HGNC:17085", "name": "exocyst complex component 6B", "diseases": 1, "url": "https://dantelabs.com/genes/exoc6b" }, { "slug": "exosc9", "symbol": "EXOSC9", "hgnc": "HGNC:9137", "name": "exosome component 9", "diseases": 1, "url": "https://dantelabs.com/genes/exosc9" }, { "slug": "fbn2", "symbol": "FBN2", "hgnc": "HGNC:3604", "name": "fibrillin 2", "diseases": 1, "url": "https://dantelabs.com/genes/fbn2" }, { "slug": "glb1", "symbol": "GLB1", "hgnc": "HGNC:4298", "name": "galactosidase beta 1", "diseases": 1, "url": "https://dantelabs.com/genes/glb1" }, { "slug": "gpc6", "symbol": "GPC6", "hgnc": "HGNC:4454", "name": "glypican 6", "diseases": 1, "url": "https://dantelabs.com/genes/gpc6" }, { "slug": "gpx4", "symbol": "GPX4", "hgnc": "HGNC:4556", "name": "glutathione peroxidase 4", "diseases": 1, "url": "https://dantelabs.com/genes/gpx4" }, { "slug": "hspa9", "symbol": "HSPA9", "hgnc": "HGNC:5244", "name": "heat shock protein family A (Hsp70) member 9", "diseases": 1, "url": "https://dantelabs.com/genes/hspa9" }, { "slug": "ids", "symbol": "IDS", "hgnc": "HGNC:5389", "name": "iduronate 2-sulfatase", "diseases": 1, "url": "https://dantelabs.com/genes/ids" }, { "slug": "kifbp", "symbol": "KIFBP", "hgnc": "HGNC:23419", "name": "kinesin family binding protein", "diseases": 1, "url": "https://dantelabs.com/genes/kifbp" }, { "slug": "knstrn", "symbol": "KNSTRN", "hgnc": "HGNC:30767", "name": "kinetochore localized astrin (SPAG5) binding protein", "diseases": 1, "url": "https://dantelabs.com/genes/knstrn" }, { "slug": "lifr", "symbol": "LIFR", "hgnc": "HGNC:6597", "name": "LIF receptor subunit alpha", "diseases": 1, "url": "https://dantelabs.com/genes/lifr" }, { "slug": "mecp2", "symbol": "MECP2", "hgnc": "HGNC:6990", "name": "methyl-CpG binding protein 2", "diseases": 1, "url": "https://dantelabs.com/genes/mecp2" }, { "slug": "med12", "symbol": "MED12", "hgnc": "HGNC:11957", "name": "mediator complex subunit 12", "diseases": 1, "url": "https://dantelabs.com/genes/med12" }, { "slug": "musk", "symbol": "MUSK", "hgnc": "HGNC:7525", "name": "muscle associated receptor tyrosine kinase", "diseases": 1, "url": "https://dantelabs.com/genes/musk" }, { "slug": "myo18b", "symbol": "MYO18B", "hgnc": "HGNC:18150", "name": "myosin XVIIIB", "diseases": 1, "url": "https://dantelabs.com/genes/myo18b" }, { "slug": "nans", "symbol": "NANS", "hgnc": "HGNC:19237", "name": "N-acetylneuraminate synthase", "diseases": 1, "url": "https://dantelabs.com/genes/nans" }, { "slug": "nf1", "symbol": "NF1", "hgnc": "HGNC:7765", "name": "neurofibromin 1", "diseases": 1, "url": "https://dantelabs.com/genes/nf1" }, { "slug": "pam16", "symbol": "PAM16", "hgnc": "HGNC:29679", "name": "presequence translocase associated motor 16", "diseases": 1, "url": "https://dantelabs.com/genes/pam16" }, { "slug": "piezo2", "symbol": "PIEZO2", "hgnc": "HGNC:26270", "name": "piezo type mechanosensitive ion channel component 2", "diseases": 2, "url": "https://dantelabs.com/genes/piezo2" }, { "slug": "pik3cd", "symbol": "PIK3CD", "hgnc": "HGNC:8977", "name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta", "diseases": 1, "url": "https://dantelabs.com/genes/pik3cd" }, { "slug": "pole", "symbol": "POLE", "hgnc": "HGNC:9177", "name": "DNA polymerase epsilon, catalytic subunit", "diseases": 1, "url": "https://dantelabs.com/genes/pole" }, { "slug": "rab23", "symbol": "RAB23", "hgnc": "HGNC:14263", "name": "RAB23, member RAS oncogene family", "diseases": 1, "url": "https://dantelabs.com/genes/rab23" }, { "slug": "smad4", "symbol": "SMAD4", "hgnc": "HGNC:6770", "name": "SMAD family member 4", "diseases": 1, "url": "https://dantelabs.com/genes/smad4" }, { "slug": "spred1", "symbol": "SPRED1", "hgnc": "HGNC:20249", "name": "sprouty related EVH1 domain containing 1", "diseases": 1, "url": "https://dantelabs.com/genes/spred1" }, { "slug": "taldo1", "symbol": "TALDO1", "hgnc": "HGNC:11559", "name": "transaldolase 1", "diseases": 1, "url": "https://dantelabs.com/genes/taldo1" }, { "slug": "tapt1", "symbol": "TAPT1", "hgnc": "HGNC:26887", "name": "transmembrane anterior posterior transformation 1", "diseases": 1, "url": "https://dantelabs.com/genes/tapt1" }, { "slug": "tfap2a", "symbol": "TFAP2A", "hgnc": "HGNC:11742", "name": "transcription factor AP-2 alpha", "diseases": 1, "url": "https://dantelabs.com/genes/tfap2a" }, { "slug": "unc80", "symbol": "UNC80", "hgnc": "HGNC:26582", "name": "unc-80 subunit of NALCN channel complex", "diseases": 1, "url": "https://dantelabs.com/genes/unc80" }, { "slug": "wac", "symbol": "WAC", "hgnc": "HGNC:17327", "name": "WW domain containing adaptor with coiled-coil", "diseases": 1, "url": "https://dantelabs.com/genes/wac" }, { "slug": "zc4h2", "symbol": "ZC4H2", "hgnc": "HGNC:24931", "name": "zinc finger C4H2-type containing", "diseases": 2, "url": "https://dantelabs.com/genes/zc4h2" } ] } }