{ "url": "https://dantelabs.com/traits/brachydactyly", "trait": { "bundleId": "2026.10.17-8666dff2", "release": "2026-09-01", "slug": "brachydactyly", "id": "HP:0001156", "name": "Short fingers or toes", "label": "Brachydactyly", "definition": "Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.", "synonyms": [ "Brachydactyly syndrome" ], "systems": [ { "slug": "abnormality-of-limbs", "name": "Abnormality of limbs", "url": "https://dantelabs.com/traits/abnormality-of-limbs" }, { "slug": "abnormality-of-the-musculoskeletal-system", "name": "Abnormality of the musculoskeletal system", "url": "https://dantelabs.com/traits/abnormality-of-the-musculoskeletal-system" } ], "broader": [ { "slug": "short-digit", "name": "Short digit", "url": "https://dantelabs.com/traits/short-digit" } ], "narrower": [ { "slug": "type-e-brachydactyly", "name": "Type E brachydactyly", "genes": 5, "url": "https://dantelabs.com/traits/type-e-brachydactyly" }, { "slug": "type-b-brachydactyly", "name": "Type B brachydactyly", "genes": 2, "url": "https://dantelabs.com/traits/type-b-brachydactyly" }, { "slug": "type-c-brachydactyly", "name": "Type C brachydactyly", "genes": 2, "url": "https://dantelabs.com/traits/type-c-brachydactyly" }, { "slug": "brachytelomesophalangy", "name": "Brachytelomesophalangy", "genes": 1, "url": "https://dantelabs.com/traits/brachytelomesophalangy" }, { "slug": "type-a-brachydactyly", "name": "Type A brachydactyly", "genes": 1, "url": "https://dantelabs.com/traits/type-a-brachydactyly" }, { "slug": "type-d-brachydactyly", "name": "Type D brachydactyly", "genes": 1, "url": "https://dantelabs.com/traits/type-d-brachydactyly" } ], "genes": [ { "slug": "adamts10", "symbol": "ADAMTS10", "hgnc": "HGNC:13201", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 10", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/adamts10" }, { "slug": "aff4", "symbol": "AFF4", "hgnc": "HGNC:17869", "name": "ALF transcription elongation factor 4", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/aff4" }, { "slug": "ahdc1", "symbol": "AHDC1", "hgnc": "HGNC:25230", "name": "AT-hook DNA binding motif containing 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ahdc1" }, { "slug": "aifm1", "symbol": "AIFM1", "hgnc": "HGNC:8768", "name": "apoptosis inducing factor mitochondria associated 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/aifm1" }, { "slug": "apc2", "symbol": "APC2", "hgnc": "HGNC:24036", "name": "APC regulator of Wnt signaling pathway 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/apc2" }, { "slug": "bbip1", "symbol": "BBIP1", "hgnc": "HGNC:28093", "name": "BBSome interacting protein 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/bbip1" }, { "slug": "bbs5", "symbol": "BBS5", "hgnc": "HGNC:970", "name": "Bardet-Biedl syndrome 5", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/bbs5" }, { "slug": "bbs9", "symbol": "BBS9", "hgnc": "HGNC:30000", "name": "Bardet-Biedl syndrome 9", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/bbs9" }, { "slug": "bgn", "symbol": "BGN", "hgnc": "HGNC:1044", "name": "biglycan", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/bgn" }, { "slug": "bmpr1b", "symbol": "BMPR1B", "hgnc": "HGNC:1077", "name": "bone morphogenetic protein receptor type 1B", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/bmpr1b" }, { "slug": "cep55", "symbol": "CEP55", "hgnc": "HGNC:1161", "name": "centrosomal protein 55", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/cep55" }, { "slug": "chst11", "symbol": "CHST11", "hgnc": "HGNC:17422", "name": "carbohydrate sulfotransferase 11", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/chst11" }, { "slug": "cilk1", "symbol": "CILK1", "hgnc": "HGNC:21219", "name": "ciliogenesis associated kinase 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/cilk1" }, { "slug": "col2a1", "symbol": "COL2A1", "hgnc": "HGNC:2200", "name": "collagen type II alpha 1 chain", "frequency": "obligate", "diseases": 4, "url": "https://dantelabs.com/genes/col2a1" }, { "slug": "comp", "symbol": "COMP", "hgnc": "HGNC:2227", "name": "cartilage oligomeric matrix protein", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/comp" }, { "slug": "cript", "symbol": "CRIPT", "hgnc": "HGNC:14312", "name": "CXXC repeat containing interactor of PDZ3 domain", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/cript" }, { "slug": "dcps", "symbol": "DCPS", "hgnc": "HGNC:29812", "name": "decapping enzyme, scavenger", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/dcps" }, { "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": "dvl1", "symbol": "DVL1", "hgnc": "HGNC:3084", "name": "dishevelled segment polarity protein 1", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/dvl1" }, { "slug": "dvl3", "symbol": "DVL3", "hgnc": "HGNC:3087", "name": "dishevelled segment polarity protein 3", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/dvl3" }, { "slug": "dym", "symbol": "DYM", "hgnc": "HGNC:21317", "name": "dymeclin", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/dym" }, { "slug": "elfn1", "symbol": "ELFN1", "hgnc": "HGNC:33154", "name": "extracellular leucine rich repeat and fibronectin type III domain containing 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/elfn1" }, { "slug": "erf", "symbol": "ERF", "hgnc": "HGNC:3444", "name": "ETS2 repressor factor", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/erf" }, { "slug": "eri1", "symbol": "ERI1", "hgnc": "HGNC:23994", "name": "exoribonuclease 1", "frequency": "obligate", "diseases": 2, "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": "fbxo28", "symbol": "FBXO28", "hgnc": "HGNC:29046", "name": "F-box protein 28", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/fbxo28" }, { "slug": "fgd1", "symbol": "FGD1", "hgnc": "HGNC:3663", "name": "FYVE, RhoGEF and PH domain containing 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/fgd1" }, { "slug": "fto", "symbol": "FTO", "hgnc": "HGNC:24678", "name": "FTO alpha-ketoglutarate dependent dioxygenase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/fto" }, { "slug": "gdf5", "symbol": "GDF5", "hgnc": "HGNC:4220", "name": "growth differentiation factor 5", "frequency": "obligate", "diseases": 9, "url": "https://dantelabs.com/genes/gdf5" }, { "slug": "gli3", "symbol": "GLI3", "hgnc": "HGNC:4319", "name": "GLI family zinc finger 3", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/gli3" }, { "slug": "gnas", "symbol": "GNAS", "hgnc": "HGNC:4392", "name": "GNAS complex locus", "frequency": "obligate", "diseases": 8, "url": "https://dantelabs.com/genes/gnas" }, { "slug": "hnrnpr", "symbol": "HNRNPR", "hgnc": "HGNC:5047", "name": "heterogeneous nuclear ribonucleoprotein R", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/hnrnpr" }, { "slug": "ift122", "symbol": "IFT122", "hgnc": "HGNC:13556", "name": "intraflagellar transport 122", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/ift122" }, { "slug": "ift140", "symbol": "IFT140", "hgnc": "HGNC:29077", "name": "intraflagellar transport 140", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/ift140" }, { "slug": "ift43", "symbol": "IFT43", "hgnc": "HGNC:29669", "name": "intraflagellar transport 43", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/ift43" }, { "slug": "ift52", "symbol": "IFT52", "hgnc": "HGNC:15901", "name": "intraflagellar transport 52", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/ift52" }, { "slug": "ihh", "symbol": "IHH", "hgnc": "HGNC:5956", "name": "Indian hedgehog signaling molecule", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/ihh" }, { "slug": "kdm6a", "symbol": "KDM6A", "hgnc": "HGNC:12637", "name": "lysine demethylase 6A", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/kdm6a" }, { "slug": "kdm6b", "symbol": "KDM6B", "hgnc": "HGNC:29012", "name": "lysine demethylase 6B", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/kdm6b" }, { "slug": "kiaa0753", "symbol": "KIAA0753", "hgnc": "HGNC:29110", "name": "KIAA0753", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/kiaa0753" }, { "slug": "kmt2d", "symbol": "KMT2D", "hgnc": "HGNC:7133", "name": "lysine methyltransferase 2D", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/kmt2d" }, { "slug": "lbr", "symbol": "LBR", "hgnc": "HGNC:6518", "name": "lamin B receptor", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/lbr" }, { "slug": "ltbp3", "symbol": "LTBP3", "hgnc": "HGNC:6716", "name": "latent transforming growth factor beta binding protein 3", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/ltbp3" }, { "slug": "map3k7", "symbol": "MAP3K7", "hgnc": "HGNC:6859", "name": "mitogen-activated protein kinase kinase kinase 7", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/map3k7" }, { "slug": "mars1", "symbol": "MARS1", "hgnc": "HGNC:6898", "name": "methionyl-tRNA synthetase 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/mars1" }, { "slug": "mbtps1", "symbol": "MBTPS1", "hgnc": "HGNC:15456", "name": "membrane bound transcription factor peptidase, site 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/mbtps1" }, { "slug": "megf8", "symbol": "MEGF8", "hgnc": "HGNC:3233", "name": "multiple EGF like domains 8", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/megf8" }, { "slug": "mir140", "symbol": "MIR140", "hgnc": "HGNC:31527", "name": "microRNA 140", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/mir140" }, { "slug": "mrps16", "symbol": "MRPS16", "hgnc": "HGNC:14048", "name": "mitochondrial ribosomal protein S16", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/mrps16" }, { "slug": "nbas", "symbol": "NBAS", "hgnc": "HGNC:15625", "name": "NBAS subunit of NRZ tethering complex", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nbas" }, { "slug": "nxn", "symbol": "NXN", "hgnc": "HGNC:18008", "name": "nucleoredoxin", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/nxn" }, { "slug": "ofd1", "symbol": "OFD1", "hgnc": "HGNC:2567", "name": "OFD1 centriole and centriolar satellite protein", "frequency": "obligate", "diseases": 4, "url": "https://dantelabs.com/genes/ofd1" }, { "slug": "pde4d", "symbol": "PDE4D", "hgnc": "HGNC:8783", "name": "phosphodiesterase 4D", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/pde4d" }, { "slug": "plcb3", "symbol": "PLCB3", "hgnc": "HGNC:9056", "name": "phospholipase C beta 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/plcb3" }, { "slug": "ppp3ca", "symbol": "PPP3CA", "hgnc": "HGNC:9314", "name": "protein phosphatase 3 catalytic subunit alpha", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ppp3ca" }, { "slug": "prkar1a", "symbol": "PRKAR1A", "hgnc": "HGNC:9388", "name": "protein kinase cAMP-dependent type I regulatory subunit alpha", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/prkar1a" }, { "slug": "psmd12", "symbol": "PSMD12", "hgnc": "HGNC:9557", "name": "proteasome 26S subunit, non-ATPase 12", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/psmd12" }, { "slug": "ptbp1", "symbol": "PTBP1", "hgnc": "HGNC:9583", "name": "polypyrimidine tract binding protein 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ptbp1" }, { "slug": "rab23", "symbol": "RAB23", "hgnc": "HGNC:14263", "name": "RAB23, member RAS oncogene family", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/rab23" }, { "slug": "rmp64", "symbol": "RMP64", "hgnc": "HGNC:24496", "name": "ribonuclease MRP subunit p64", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rmp64" }, { "slug": "rnu2-2", "symbol": "RNU2-2", "hgnc": "HGNC:10152", "name": "RNA, U2 small nuclear 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rnu2-2" }, { "slug": "ror2", "symbol": "ROR2", "hgnc": "HGNC:10257", "name": "ROR family WNT receptor 2", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/ror2" }, { "slug": "sik3", "symbol": "SIK3", "hgnc": "HGNC:29165", "name": "SIK family kinase 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/sik3" }, { "slug": "slc35c1", "symbol": "SLC35C1", "hgnc": "HGNC:20197", "name": "solute carrier family 35 member C1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/slc35c1" }, { "slug": "smad4", "symbol": "SMAD4", "hgnc": "HGNC:6770", "name": "SMAD family member 4", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/smad4" }, { "slug": "tbc1d32", "symbol": "TBC1D32", "hgnc": "HGNC:21485", "name": "TBC1 domain family member 32", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/tbc1d32" }, { "slug": "tbx15", "symbol": "TBX15", "hgnc": "HGNC:11594", "name": "T-box transcription factor 15", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/tbx15" }, { "slug": "trip11", "symbol": "TRIP11", "hgnc": "HGNC:12305", "name": "thyroid hormone receptor interactor 11", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/trip11" }, { "slug": "trps1", "symbol": "TRPS1", "hgnc": "HGNC:12340", "name": "transcriptional repressor GATA binding 1", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/trps1" }, { "slug": "ttc21b", "symbol": "TTC21B", "hgnc": "HGNC:25660", "name": "tetratricopeptide repeat domain 21B", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/ttc21b" }, { "slug": "ubap2l", "symbol": "UBAP2L", "hgnc": "HGNC:29877", "name": "ubiquitin associated protein 2 like", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ubap2l" }, { "slug": "wdr19", "symbol": "WDR19", "hgnc": "HGNC:18340", "name": "WD repeat domain 19", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/wdr19" }, { "slug": "wdr35", "symbol": "WDR35", "hgnc": "HGNC:29250", "name": "WD repeat domain 35", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/wdr35" }, { "slug": "wnt5a", "symbol": "WNT5A", "hgnc": "HGNC:12784", "name": "Wnt family member 5A", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/wnt5a" }, { "slug": "acan", "symbol": "ACAN", "hgnc": "HGNC:319", "name": "aggrecan", "frequency": "very-frequent", "diseases": 4, "url": "https://dantelabs.com/genes/acan" }, { "slug": "adamts17", "symbol": "ADAMTS17", "hgnc": "HGNC:17109", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 17", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/adamts17" }, { "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": "casz1", "symbol": "CASZ1", "hgnc": "HGNC:26002", "name": "castor zinc finger 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/casz1" }, { "slug": "chst3", "symbol": "CHST3", "hgnc": "HGNC:1971", "name": "carbohydrate sulfotransferase 3", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/chst3" }, { "slug": "cited2", "symbol": "CITED2", "hgnc": "HGNC:1987", "name": "Cbp/p300 interacting transactivator with ED-rich tail 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cited2" }, { "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": "ctsk", "symbol": "CTSK", "hgnc": "HGNC:2536", "name": "cathepsin K", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ctsk" }, { "slug": "cwc27", "symbol": "CWC27", "hgnc": "HGNC:10664", "name": "CWC27 spliceosome associated cyclophilin", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/cwc27" }, { "slug": "fbn1", "symbol": "FBN1", "hgnc": "HGNC:3603", "name": "fibrillin 1", "frequency": "very-frequent", "diseases": 4, "url": "https://dantelabs.com/genes/fbn1" }, { "slug": "fgf9", "symbol": "FGF9", "hgnc": "HGNC:3687", "name": "fibroblast growth factor 9", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fgf9" }, { "slug": "fgfr2", "symbol": "FGFR2", "hgnc": "HGNC:3689", "name": "fibroblast growth factor receptor 2", "frequency": "very-frequent", "diseases": 4, "url": "https://dantelabs.com/genes/fgfr2" }, { "slug": "fgfr3", "symbol": "FGFR3", "hgnc": "HGNC:3690", "name": "fibroblast growth factor receptor 3", "frequency": "very-frequent", "diseases": 11, "url": "https://dantelabs.com/genes/fgfr3" }, { "slug": "flna", "symbol": "FLNA", "hgnc": "HGNC:3754", "name": "filamin A", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/flna" }, { "slug": "flnb", "symbol": "FLNB", "hgnc": "HGNC:3755", "name": "filamin B", "frequency": "very-frequent", "diseases": 4, "url": "https://dantelabs.com/genes/flnb" }, { "slug": "flt4", "symbol": "FLT4", "hgnc": "HGNC:3767", "name": "fms related receptor tyrosine kinase 4", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/flt4" }, { "slug": "fzd2", "symbol": "FZD2", "hgnc": "HGNC:4040", "name": "frizzled class receptor 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fzd2" }, { "slug": "gabrd", "symbol": "GABRD", "hgnc": "HGNC:4084", "name": "gamma-aminobutyric acid type A receptor subunit delta", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gabrd" }, { "slug": "gata4", "symbol": "GATA4", "hgnc": "HGNC:4173", "name": "GATA binding protein 4", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gata4" }, { "slug": "gata5", "symbol": "GATA5", "hgnc": "HGNC:15802", "name": "GATA binding protein 5", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gata5" }, { "slug": "gata6", "symbol": "GATA6", "hgnc": "HGNC:4174", "name": "GATA binding protein 6", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gata6" }, { "slug": "gdf1", "symbol": "GDF1", "hgnc": "HGNC:4214", "name": "growth differentiation factor 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gdf1" }, { "slug": "gdf6", "symbol": "GDF6", "hgnc": "HGNC:4221", "name": "growth differentiation factor 6", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/gdf6" }, { "slug": "gja5", "symbol": "GJA5", "hgnc": "HGNC:4279", "name": "gap junction protein alpha 5", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/gja5" }, { "slug": "hspg2", "symbol": "HSPG2", "hgnc": "HGNC:5273", "name": "heparan sulfate proteoglycan 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hspg2" }, { "slug": "inppl1", "symbol": "INPPL1", "hgnc": "HGNC:6080", "name": "inositol polyphosphate phosphatase like 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/inppl1" }, { "slug": "jag1", "symbol": "JAG1", "hgnc": "HGNC:6188", "name": "jagged canonical Notch ligand 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/jag1" }, { "slug": "kcnab2", "symbol": "KCNAB2", "hgnc": "HGNC:6229", "name": "potassium voltage-gated channel subfamily A regulatory beta subunit 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kcnab2" }, { "slug": "kdr", "symbol": "KDR", "hgnc": "HGNC:6307", "name": "kinase insert domain receptor", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kdr" }, { "slug": "lonp1", "symbol": "LONP1", "hgnc": "HGNC:9479", "name": "lon peptidase 1, mitochondrial", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/lonp1" }, { "slug": "ltbp1", "symbol": "LTBP1", "hgnc": "HGNC:6714", "name": "latent transforming growth factor beta binding protein 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ltbp1" }, { "slug": "ltbp2", "symbol": "LTBP2", "hgnc": "HGNC:6715", "name": "latent transforming growth factor beta binding protein 2", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ltbp2" }, { "slug": "luzp1", "symbol": "LUZP1", "hgnc": "HGNC:14985", "name": "leucine zipper protein 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/luzp1" }, { "slug": "macroh2a1", "symbol": "MACROH2A1", "hgnc": "HGNC:4740", "name": "macroH2A.1 histone", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/macroh2a1" }, { "slug": "maf", "symbol": "MAF", "hgnc": "HGNC:6776", "name": "MAF bZIP transcription factor", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/maf" }, { "slug": "mmp23b", "symbol": "MMP23B", "hgnc": "HGNC:7171", "name": "matrix metallopeptidase 23B", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mmp23b" }, { "slug": "mymk", "symbol": "MYMK", "hgnc": "HGNC:33778", "name": "myomaker, myoblast fusion factor", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mymk" }, { "slug": "mymx", "symbol": "MYMX", "hgnc": "HGNC:52391", "name": "myomixer, myoblast fusion factor", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mymx" }, { "slug": "nkx2-5", "symbol": "NKX2-5", "hgnc": "HGNC:2488", "name": "NK2 homeobox 5", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nkx2-5" }, { "slug": "nkx2-6", "symbol": "NKX2-6", "hgnc": "HGNC:32940", "name": "NK2 homeobox 6", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nkx2-6" }, { "slug": "nlrp3", "symbol": "NLRP3", "hgnc": "HGNC:16400", "name": "NLR family pyrin domain containing 3", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nlrp3" }, { "slug": "nog", "symbol": "NOG", "hgnc": "HGNC:7866", "name": "noggin", "frequency": "very-frequent", "diseases": 4, "url": "https://dantelabs.com/genes/nog" }, { "slug": "notch2", "symbol": "NOTCH2", "hgnc": "HGNC:7882", "name": "notch receptor 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/notch2" }, { "slug": "pcnt", "symbol": "PCNT", "hgnc": "HGNC:16068", "name": "pericentrin", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/pcnt" }, { "slug": "pcyt1a", "symbol": "PCYT1A", "hgnc": "HGNC:8754", "name": "phosphate cytidylyltransferase 1A, choline", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/pcyt1a" }, { "slug": "pde3a", "symbol": "PDE3A", "hgnc": "HGNC:8778", "name": "phosphodiesterase 3A", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pde3a" }, { "slug": "pdpn", "symbol": "PDPN", "hgnc": "HGNC:29602", "name": "podoplanin", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pdpn" }, { "slug": "pitx1", "symbol": "PITX1", "hgnc": "HGNC:9004", "name": "paired like homeodomain 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pitx1" }, { "slug": "ppp2r3c", "symbol": "PPP2R3C", "hgnc": "HGNC:17485", "name": "protein phosphatase 2 regulatory subunit B''gamma", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ppp2r3c" }, { "slug": "prdm16", "symbol": "PRDM16", "hgnc": "HGNC:14000", "name": "PR/SET domain 16", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/prdm16" }, { "slug": "prkcz", "symbol": "PRKCZ", "hgnc": "HGNC:9412", "name": "protein kinase C zeta", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/prkcz" }, { "slug": "prmt7", "symbol": "PRMT7", "hgnc": "HGNC:25557", "name": "protein arginine methyltransferase 7", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/prmt7" }, { "slug": "ptdss1", "symbol": "PTDSS1", "hgnc": "HGNC:9587", "name": "phosphatidylserine synthase 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ptdss1" }, { "slug": "rai1", "symbol": "RAI1", "hgnc": "HGNC:9834", "name": "retinoic acid induced 1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/rai1" }, { "slug": "rere", "symbol": "RERE", "hgnc": "HGNC:9965", "name": "arginine-glutamic acid dipeptide repeats", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rere" }, { "slug": "rnu4atac", "symbol": "RNU4ATAC", "hgnc": "HGNC:34016", "name": "RNA, U4atac small nuclear", "frequency": "very-frequent", "diseases": 6, "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": 1, "url": "https://dantelabs.com/genes/rspry1" }, { "slug": "scube3", "symbol": "SCUBE3", "hgnc": "HGNC:13655", "name": "signal peptide, CUB domain and EGF like domain containing 3", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/scube3" }, { "slug": "sh3pxd2b", "symbol": "SH3PXD2B", "hgnc": "HGNC:29242", "name": "SH3 and PX domains 2B", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sh3pxd2b" }, { "slug": "shox", "symbol": "SHOX", "hgnc": "HGNC:10853", "name": "SHOX homeobox", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/shox" }, { "slug": "ski", "symbol": "SKI", "hgnc": "HGNC:10896", "name": "SKI proto-oncogene", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ski" }, { "slug": "smarca2", "symbol": "SMARCA2", "hgnc": "HGNC:11098", "name": "SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/smarca2" }, { "slug": "snx14", "symbol": "SNX14", "hgnc": "HGNC:14977", "name": "sorting nexin 14", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/snx14" }, { "slug": "spen", "symbol": "SPEN", "hgnc": "HGNC:17575", "name": "spen family transcriptional repressor", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/spen" }, { "slug": "tbx1", "symbol": "TBX1", "hgnc": "HGNC:11592", "name": "T-box transcription factor 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tbx1" }, { "slug": "trpv4", "symbol": "TRPV4", "hgnc": "HGNC:18083", "name": "transient receptor potential cation channel subfamily V member 4", "frequency": "very-frequent", "diseases": 3, "url": "https://dantelabs.com/genes/trpv4" }, { "slug": "ube4b", "symbol": "UBE4B", "hgnc": "HGNC:12500", "name": "ubiquitination factor E4B", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ube4b" }, { "slug": "zfpm2", "symbol": "ZFPM2", "hgnc": "HGNC:16700", "name": "zinc finger protein, FOG family member 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/zfpm2" }, { "slug": "adamtsl2", "symbol": "ADAMTSL2", "hgnc": "HGNC:14631", "name": "ADAMTS like 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/adamtsl2" }, { "slug": "ahsg", "symbol": "AHSG", "hgnc": "HGNC:349", "name": "alpha 2-HS glycoprotein", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ahsg" }, { "slug": "alx1", "symbol": "ALX1", "hgnc": "HGNC:1494", "name": "ALX homeobox 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/alx1" }, { "slug": "alx3", "symbol": "ALX3", "hgnc": "HGNC:449", "name": "ALX homeobox 3", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/alx3" }, { "slug": "arhgap31", "symbol": "ARHGAP31", "hgnc": "HGNC:29216", "name": "Rho GTPase activating protein 31", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/arhgap31" }, { "slug": "arl6", "symbol": "ARL6", "hgnc": "HGNC:13210", "name": "ARF like GTPase 6", "frequency": "frequent", "diseases": 3, "url": "https://dantelabs.com/genes/arl6" }, { "slug": "atp7a", "symbol": "ATP7A", "hgnc": "HGNC:869", "name": "ATPase copper transporting alpha", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/atp7a" }, { "slug": "bbs1", "symbol": "BBS1", "hgnc": "HGNC:966", "name": "Bardet-Biedl syndrome 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/bbs1" }, { "slug": "bbs10", "symbol": "BBS10", "hgnc": "HGNC:26291", "name": "Bardet-Biedl syndrome 10", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bbs10" }, { "slug": "bbs12", "symbol": "BBS12", "hgnc": "HGNC:26648", "name": "Bardet-Biedl syndrome 12", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bbs12" }, { "slug": "bbs2", "symbol": "BBS2", "hgnc": "HGNC:967", "name": "Bardet-Biedl syndrome 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bbs2" }, { "slug": "bbs4", "symbol": "BBS4", "hgnc": "HGNC:969", "name": "Bardet-Biedl syndrome 4", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/bbs4" }, { "slug": "bbs7", "symbol": "BBS7", "hgnc": "HGNC:18758", "name": "Bardet-Biedl syndrome 7", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bbs7" }, { "slug": "bpnt2", "symbol": "BPNT2", "hgnc": "HGNC:26019", "name": "3'(2'), 5'-bisphosphate nucleotidase 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bpnt2" }, { "slug": "ccdc32", "symbol": "CCDC32", "hgnc": "HGNC:28295", "name": "coiled-coil domain containing 32", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ccdc32" }, { "slug": "cep120", "symbol": "CEP120", "hgnc": "HGNC:26690", "name": "centrosomal protein 120", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cep120" }, { "slug": "cep19", "symbol": "CEP19", "hgnc": "HGNC:28209", "name": "centrosomal protein 19", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cep19" }, { "slug": "cep290", "symbol": "CEP290", "hgnc": "HGNC:29021", "name": "centrosomal protein 290", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cep290" }, { "slug": "cfap418", "symbol": "CFAP418", "hgnc": "HGNC:27232", "name": "cilia and flagella associated protein 418", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cfap418" }, { "slug": "chsy1", "symbol": "CHSY1", "hgnc": "HGNC:17198", "name": "chondroitin sulfate synthase 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/chsy1" }, { "slug": "cplane1", "symbol": "CPLANE1", "hgnc": "HGNC:25801", "name": "ciliogenesis and planar polarity effector complex subunit 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/cplane1" }, { "slug": "csgalnact1", "symbol": "CSGALNACT1", "hgnc": "HGNC:24290", "name": "chondroitin sulfate N-acetylgalactosaminyltransferase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/csgalnact1" }, { "slug": "dbh", "symbol": "DBH", "hgnc": "HGNC:2689", "name": "dopamine beta-hydroxylase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dbh" }, { "slug": "dll4", "symbol": "DLL4", "hgnc": "HGNC:2910", "name": "delta like canonical Notch ligand 4", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/dll4" }, { "slug": "dock6", "symbol": "DOCK6", "hgnc": "HGNC:19189", "name": "dedicator of cytokinesis 6", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dock6" }, { "slug": "dpf2", "symbol": "DPF2", "hgnc": "HGNC:9964", "name": "double PHD fingers 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dpf2" }, { "slug": "dph2", "symbol": "DPH2", "hgnc": "HGNC:3004", "name": "diphthamide biosynthesis 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dph2" }, { "slug": "dync2h1", "symbol": "DYNC2H1", "hgnc": "HGNC:2962", "name": "dynein cytoplasmic 2 heavy chain 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/dync2h1" }, { "slug": "dync2i1", "symbol": "DYNC2I1", "hgnc": "HGNC:21862", "name": "dynein 2 intermediate chain 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/dync2i1" }, { "slug": "dync2i2", "symbol": "DYNC2I2", "hgnc": "HGNC:28296", "name": "dynein 2 intermediate chain 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/dync2i2" }, { "slug": "dync2li1", "symbol": "DYNC2LI1", "hgnc": "HGNC:24595", "name": "dynein cytoplasmic 2 light intermediate chain 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/dync2li1" }, { "slug": "dynlt2b", "symbol": "DYNLT2B", "hgnc": "HGNC:28482", "name": "dynein light chain Tctex-type 2B", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dynlt2b" }, { "slug": "efnb1", "symbol": "EFNB1", "hgnc": "HGNC:3226", "name": "ephrin B1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/efnb1" }, { "slug": "eogt", "symbol": "EOGT", "hgnc": "HGNC:28526", "name": "EGF domain specific O-linked N-acetylglucosamine transferase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/eogt" }, { "slug": "esco2", "symbol": "ESCO2", "hgnc": "HGNC:27230", "name": "establishment of sister chromatid cohesion N-acetyltransferase 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/esco2" }, { "slug": "extl3", "symbol": "EXTL3", "hgnc": "HGNC:3518", "name": "exostosin like glycosyltransferase 3", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/extl3" }, { "slug": "fam149b1", "symbol": "FAM149B1", "hgnc": "HGNC:29162", "name": "family with sequence similarity 149 member B1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fam149b1" }, { "slug": "fgfr1", "symbol": "FGFR1", "hgnc": "HGNC:3688", "name": "fibroblast growth factor receptor 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/fgfr1" }, { "slug": "ghr", "symbol": "GHR", "hgnc": "HGNC:4263", "name": "growth hormone receptor", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ghr" }, { "slug": "gpc4", "symbol": "GPC4", "hgnc": "HGNC:4452", "name": "glypican 4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gpc4" }, { "slug": "grb10", "symbol": "GRB10", "hgnc": "HGNC:4564", "name": "growth factor receptor bound protein 10", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/grb10" }, { "slug": "hdac4", "symbol": "HDAC4", "hgnc": "HGNC:14063", "name": "histone deacetylase 4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hdac4" }, { "slug": "heatr3", "symbol": "HEATR3", "hgnc": "HGNC:26087", "name": "HEAT repeat containing 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/heatr3" }, { "slug": "hhat", "symbol": "HHAT", "hgnc": "HGNC:18270", "name": "hedgehog acyltransferase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hhat" }, { "slug": "huwe1", "symbol": "HUWE1", "hgnc": "HGNC:30892", "name": "HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/huwe1" }, { "slug": "ift172", "symbol": "IFT172", "hgnc": "HGNC:30391", "name": "intraflagellar transport 172", "frequency": "frequent", "diseases": 3, "url": "https://dantelabs.com/genes/ift172" }, { "slug": "ift27", "symbol": "IFT27", "hgnc": "HGNC:18626", "name": "intraflagellar transport 27", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ift27" }, { "slug": "ift74", "symbol": "IFT74", "hgnc": "HGNC:21424", "name": "intraflagellar transport 74", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ift74" }, { "slug": "ift80", "symbol": "IFT80", "hgnc": "HGNC:29262", "name": "intraflagellar transport 80", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ift80" }, { "slug": "itgb6", "symbol": "ITGB6", "hgnc": "HGNC:6161", "name": "integrin subunit beta 6", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/itgb6" }, { "slug": "kcnk4", "symbol": "KCNK4", "hgnc": "HGNC:6279", "name": "potassium two pore domain channel subfamily K member 4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kcnk4" }, { "slug": "kdm1a", "symbol": "KDM1A", "hgnc": "HGNC:29079", "name": "lysine demethylase 1A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kdm1a" }, { "slug": "kif15", "symbol": "KIF15", "hgnc": "HGNC:17273", "name": "kinesin family member 15", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kif15" }, { "slug": "kif7", "symbol": "KIF7", "hgnc": "HGNC:30497", "name": "kinesin family member 7", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/kif7" }, { "slug": "kras", "symbol": "KRAS", "hgnc": "HGNC:6407", "name": "KRas proto-oncogene, GTPase", "frequency": "frequent", "diseases": 3, "url": "https://dantelabs.com/genes/kras" }, { "slug": "lifr", "symbol": "LIFR", "hgnc": "HGNC:6597", "name": "LIF receptor subunit alpha", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/lifr" }, { "slug": "lmna", "symbol": "LMNA", "hgnc": "HGNC:6636", "name": "lamin A/C", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/lmna" }, { "slug": "lss", "symbol": "LSS", "hgnc": "HGNC:6708", "name": "lanosterol synthase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/lss" }, { "slug": "lztfl1", "symbol": "LZTFL1", "hgnc": "HGNC:6741", "name": "leucine zipper transcription factor like 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/lztfl1" }, { "slug": "mir17hg", "symbol": "MIR17HG", "hgnc": "HGNC:23564", "name": "miR-17-92a-1 cluster host gene", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mir17hg" }, { "slug": "mkks", "symbol": "MKKS", "hgnc": "HGNC:7108", "name": "MKKS centrosomal shuttling protein", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/mkks" }, { "slug": "mks1", "symbol": "MKS1", "hgnc": "HGNC:7121", "name": "MKS transition zone complex subunit 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mks1" }, { "slug": "nek1", "symbol": "NEK1", "hgnc": "HGNC:7744", "name": "NIMA related kinase 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/nek1" }, { "slug": "notch1", "symbol": "NOTCH1", "hgnc": "HGNC:7881", "name": "notch receptor 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/notch1" }, { "slug": "nphp1", "symbol": "NPHP1", "hgnc": "HGNC:7905", "name": "nephrocystin 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nphp1" }, { "slug": "npr2", "symbol": "NPR2", "hgnc": "HGNC:7944", "name": "natriuretic peptide receptor 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/npr2" }, { "slug": "pde6d", "symbol": "PDE6D", "hgnc": "HGNC:8788", "name": "phosphodiesterase 6D", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pde6d" }, { "slug": "pigl", "symbol": "PIGL", "hgnc": "HGNC:8966", "name": "phosphatidylinositol glycan anchor biosynthesis class L", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pigl" }, { "slug": "pign", "symbol": "PIGN", "hgnc": "HGNC:8967", "name": "phosphatidylinositol glycan anchor biosynthesis class N", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pign" }, { "slug": "pigs", "symbol": "PIGS", "hgnc": "HGNC:14937", "name": "phosphatidylinositol glycan anchor biosynthesis class S", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pigs" }, { "slug": "plxnd1", "symbol": "PLXND1", "hgnc": "HGNC:9107", "name": "plexin D1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/plxnd1" }, { "slug": "pogz", "symbol": "POGZ", "hgnc": "HGNC:18801", "name": "pogo transposable element derived with ZNF domain", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pogz" }, { "slug": "prkacb", "symbol": "PRKACB", "hgnc": "HGNC:9381", "name": "protein kinase cAMP-activated catalytic subunit beta", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/prkacb" }, { "slug": "ptch1", "symbol": "PTCH1", "hgnc": "HGNC:9585", "name": "patched 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ptch1" }, { "slug": "ptch2", "symbol": "PTCH2", "hgnc": "HGNC:9586", "name": "patched 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ptch2" }, { "slug": "rad21", "symbol": "RAD21", "hgnc": "HGNC:9811", "name": "RAD21 cohesin complex component", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/rad21" }, { "slug": "rap1b", "symbol": "RAP1B", "hgnc": "HGNC:9857", "name": "RAP1B, member of RAS oncogene family", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rap1b" }, { "slug": "rb1", "symbol": "RB1", "hgnc": "HGNC:9884", "name": "RB transcriptional corepressor 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rb1" }, { "slug": "rbpj", "symbol": "RBPJ", "hgnc": "HGNC:5724", "name": "recombination signal binding protein for immunoglobulin kappa J region", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rbpj" }, { "slug": "rdh11", "symbol": "RDH11", "hgnc": "HGNC:17964", "name": "retinol dehydrogenase 11", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rdh11" }, { "slug": "rev3l", "symbol": "REV3L", "hgnc": "HGNC:9968", "name": "REV3 like, DNA directed polymerase zeta catalytic subunit", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rev3l" }, { "slug": "runx2", "symbol": "RUNX2", "hgnc": "HGNC:10472", "name": "RUNX family transcription factor 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/runx2" }, { "slug": "scaper", "symbol": "SCAPER", "hgnc": "HGNC:13081", "name": "S-phase cyclin A associated protein in the ER", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/scaper" }, { "slug": "sclt1", "symbol": "SCLT1", "hgnc": "HGNC:26406", "name": "sodium channel and clathrin linker 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sclt1" }, { "slug": "sdccag8", "symbol": "SDCCAG8", "hgnc": "HGNC:10671", "name": "SHH signaling and ciliogenesis regulator SDCCAG8", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sdccag8" }, { "slug": "sil1", "symbol": "SIL1", "hgnc": "HGNC:24624", "name": "SIL1 nucleotide exchange factor", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sil1" }, { "slug": "sin3a", "symbol": "SIN3A", "hgnc": "HGNC:19353", "name": "SIN3 transcription regulator family member A", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/sin3a" }, { "slug": "slc26a2", "symbol": "SLC26A2", "hgnc": "HGNC:10994", "name": "solute carrier family 26 member 2", "frequency": "frequent", "diseases": 4, "url": "https://dantelabs.com/genes/slc26a2" }, { "slug": "smarcd2", "symbol": "SMARCD2", "hgnc": "HGNC:11107", "name": "SWI/SNF related BAF chromatin remodeling complex subunit D2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/smarcd2" }, { "slug": "smg9", "symbol": "SMG9", "hgnc": "HGNC:25763", "name": "SMG9 nonsense mediated mRNA decay factor", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/smg9" }, { "slug": "specc1l", "symbol": "SPECC1L", "hgnc": "HGNC:29022", "name": "sperm antigen with calponin homology and coiled-coil domains 1 like", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/specc1l" }, { "slug": "srcap", "symbol": "SRCAP", "hgnc": "HGNC:16974", "name": "Snf2 related CREBBP activator protein", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/srcap" }, { "slug": "sufu", "symbol": "SUFU", "hgnc": "HGNC:16466", "name": "SUFU negative regulator of hedgehog signaling", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sufu" }, { "slug": "tctn3", "symbol": "TCTN3", "hgnc": "HGNC:24519", "name": "tectonic family member 3", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/tctn3" }, { "slug": "telo2", "symbol": "TELO2", "hgnc": "HGNC:29099", "name": "telomere maintenance 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/telo2" }, { "slug": "tlk2", "symbol": "TLK2", "hgnc": "HGNC:11842", "name": "tousled like kinase 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tlk2" }, { "slug": "tmem216", "symbol": "TMEM216", "hgnc": "HGNC:25018", "name": "transmembrane protein 216", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tmem216" }, { "slug": "tmem231", "symbol": "TMEM231", "hgnc": "HGNC:37234", "name": "transmembrane protein 231", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tmem231" }, { "slug": "tnxb", "symbol": "TNXB", "hgnc": "HGNC:11976", "name": "tenascin XB", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tnxb" }, { "slug": "tonsl", "symbol": "TONSL", "hgnc": "HGNC:7801", "name": "tonsoku like, DNA repair protein", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/tonsl" }, { "slug": "topors", "symbol": "TOPORS", "hgnc": "HGNC:21653", "name": "TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/topors" }, { "slug": "tra2b", "symbol": "TRA2B", "hgnc": "HGNC:10781", "name": "transformer 2 beta homolog", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tra2b" }, { "slug": "trim32", "symbol": "TRIM32", "hgnc": "HGNC:16380", "name": "tripartite motif containing 32", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/trim32" }, { "slug": "ttc8", "symbol": "TTC8", "hgnc": "HGNC:20087", "name": "tetratricopeptide repeat domain 8", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ttc8" }, { "slug": "twist1", "symbol": "TWIST1", "hgnc": "HGNC:12428", "name": "twist family bHLH transcription factor 1", "frequency": "frequent", "diseases": 3, "url": "https://dantelabs.com/genes/twist1" }, { "slug": "wdpcp", "symbol": "WDPCP", "hgnc": "HGNC:28027", "name": "WD repeat containing planar cell polarity effector", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/wdpcp" }, { "slug": "alg8", "symbol": "ALG8", "hgnc": "HGNC:23161", "name": "ALG8 alpha-1,3-glucosyltransferase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/alg8" }, { "slug": "atrx", "symbol": "ATRX", "hgnc": "HGNC:886", "name": "ATRX chromatin remodeler", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/atrx" }, { "slug": "bap1", "symbol": "BAP1", "hgnc": "HGNC:950", "name": "BRCA1 associated deubiquitinase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bap1" }, { "slug": "bhlha9", "symbol": "BHLHA9", "hgnc": "HGNC:35126", "name": "basic helix-loop-helix family member a9", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bhlha9" }, { "slug": "braf", "symbol": "BRAF", "hgnc": "HGNC:1097", "name": "B-Raf proto-oncogene, serine/threonine kinase", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/braf" }, { "slug": "cbl", "symbol": "CBL", "hgnc": "HGNC:1541", "name": "Cbl proto-oncogene", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cbl" }, { "slug": "ccdc22", "symbol": "CCDC22", "hgnc": "HGNC:28909", "name": "CCC complex scaffolding subunit CCDC22", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ccdc22" }, { "slug": "chd7", "symbol": "CHD7", "hgnc": "HGNC:20626", "name": "chromodomain helicase DNA binding protein 7", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/chd7" }, { "slug": "chn1", "symbol": "CHN1", "hgnc": "HGNC:1943", "name": "chimerin 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/chn1" }, { "slug": "chrna7", "symbol": "CHRNA7", "hgnc": "HGNC:1960", "name": "cholinergic receptor nicotinic alpha 7 subunit", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/chrna7" }, { "slug": "csnk2a1", "symbol": "CSNK2A1", "hgnc": "HGNC:2457", "name": "casein kinase 2 alpha 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/csnk2a1" }, { "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": "cul4b", "symbol": "CUL4B", "hgnc": "HGNC:2555", "name": "cullin 4B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cul4b" }, { "slug": "ddx3x", "symbol": "DDX3X", "hgnc": "HGNC:2745", "name": "DEAD-box helicase 3 X-linked", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ddx3x" }, { "slug": "dhcr7", "symbol": "DHCR7", "hgnc": "HGNC:2860", "name": "7-dehydrocholesterol reductase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dhcr7" }, { "slug": "dpysl5", "symbol": "DPYSL5", "hgnc": "HGNC:20637", "name": "dihydropyrimidinase like 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dpysl5" }, { "slug": "ebf3", "symbol": "EBF3", "hgnc": "HGNC:19087", "name": "EBF transcription factor 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ebf3" }, { "slug": "epb41l1", "symbol": "EPB41L1", "hgnc": "HGNC:3378", "name": "erythrocyte membrane protein band 4.1 like 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/epb41l1" }, { "slug": "ext1", "symbol": "EXT1", "hgnc": "HGNC:3512", "name": "exostosin glycosyltransferase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ext1" }, { "slug": "fam20c", "symbol": "FAM20C", "hgnc": "HGNC:22140", "name": "FAM20C golgi associated secretory pathway kinase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fam20c" }, { "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": "gja1", "symbol": "GJA1", "hgnc": "HGNC:4274", "name": "gap junction protein alpha 1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/gja1" }, { "slug": "gjb3", "symbol": "GJB3", "hgnc": "HGNC:4285", "name": "gap junction protein beta 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gjb3" }, { "slug": "gjb4", "symbol": "GJB4", "hgnc": "HGNC:4286", "name": "gap junction protein beta 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gjb4" }, { "slug": "gnas-as1", "symbol": "GNAS-AS1", "hgnc": "HGNC:24872", "name": "GNAS antisense RNA 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gnas-as1" }, { "slug": "hras", "symbol": "HRAS", "hgnc": "HGNC:5173", "name": "HRas proto-oncogene, GTPase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/hras" }, { "slug": "kat6a", "symbol": "KAT6A", "hgnc": "HGNC:13013", "name": "lysine acetyltransferase 6A", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/kat6a" }, { "slug": "kdsr", "symbol": "KDSR", "hgnc": "HGNC:4021", "name": "3-ketodihydrosphingosine reductase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kdsr" }, { "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": "klf13", "symbol": "KLF13", "hgnc": "HGNC:13672", "name": "KLF transcription factor 13", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/klf13" }, { "slug": "lztr1", "symbol": "LZTR1", "hgnc": "HGNC:6742", "name": "leucine zipper like post translational regulator 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lztr1" }, { "slug": "mafb", "symbol": "MAFB", "hgnc": "HGNC:6408", "name": "MAF bZIP transcription factor B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mafb" }, { "slug": "mau2", "symbol": "MAU2", "hgnc": "HGNC:29140", "name": "MAU2 sister chromatid cohesion factor", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mau2" }, { "slug": "med12", "symbol": "MED12", "hgnc": "HGNC:11957", "name": "mediator complex subunit 12", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/med12" }, { "slug": "mgat2", "symbol": "MGAT2", "hgnc": "HGNC:7045", "name": "alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mgat2" }, { "slug": "mras", "symbol": "MRAS", "hgnc": "HGNC:7227", "name": "muscle RAS oncogene homolog", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mras" }, { "slug": "msx2", "symbol": "MSX2", "hgnc": "HGNC:7392", "name": "msh homeobox 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/msx2" }, { "slug": "mysm1", "symbol": "MYSM1", "hgnc": "HGNC:29401", "name": "Myb like, SWIRM and MPN domains 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mysm1" }, { "slug": "nipbl", "symbol": "NIPBL", "hgnc": "HGNC:28862", "name": "NIPBL cohesin loading factor", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nipbl" }, { "slug": "nras", "symbol": "NRAS", "hgnc": "HGNC:7989", "name": "NRAS proto-oncogene, GTPase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nras" }, { "slug": "pdgfrb", "symbol": "PDGFRB", "hgnc": "HGNC:8804", "name": "platelet derived growth factor receptor beta", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pdgfrb" }, { "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": "pnpla6", "symbol": "PNPLA6", "hgnc": "HGNC:16268", "name": "patatin like domain 6, lysophospholipase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pnpla6" }, { "slug": "por", "symbol": "POR", "hgnc": "HGNC:9208", "name": "cytochrome p450 oxidoreductase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/por" }, { "slug": "ppp1cb", "symbol": "PPP1CB", "hgnc": "HGNC:9282", "name": "protein phosphatase 1 catalytic subunit beta", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ppp1cb" }, { "slug": "prkar1b", "symbol": "PRKAR1B", "hgnc": "HGNC:9390", "name": "protein kinase cAMP-dependent type I regulatory subunit beta", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/prkar1b" }, { "slug": "pten", "symbol": "PTEN", "hgnc": "HGNC:9588", "name": "phosphatase and tensin homolog", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pten" }, { "slug": "ptpn11", "symbol": "PTPN11", "hgnc": "HGNC:9644", "name": "protein tyrosine phosphatase non-receptor type 11", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/ptpn11" }, { "slug": "raf1", "symbol": "RAF1", "hgnc": "HGNC:9829", "name": "Raf-1 proto-oncogene, serine/threonine kinase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/raf1" }, { "slug": "rasa2", "symbol": "RASA2", "hgnc": "HGNC:9872", "name": "RAS p21 protein activator 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rasa2" }, { "slug": "rhoa", "symbol": "RHOA", "hgnc": "HGNC:667", "name": "ras homolog family member A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rhoa" }, { "slug": "rin2", "symbol": "RIN2", "hgnc": "HGNC:18750", "name": "Ras and Rab interactor 2", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/rin2" }, { "slug": "rit1", "symbol": "RIT1", "hgnc": "HGNC:10023", "name": "Ras like without CAAX 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rit1" }, { "slug": "rnu5b-1", "symbol": "RNU5B-1", "hgnc": "HGNC:10212", "name": "RNA, U5B small nuclear 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rnu5b-1" }, { "slug": "rras", "symbol": "RRAS", "hgnc": "HGNC:10447", "name": "RAS related", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rras" }, { "slug": "rras2", "symbol": "RRAS2", "hgnc": "HGNC:17271", "name": "RAS related 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rras2" }, { "slug": "sall4", "symbol": "SALL4", "hgnc": "HGNC:15924", "name": "spalt like transcription factor 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sall4" }, { "slug": "sema3e", "symbol": "SEMA3E", "hgnc": "HGNC:10727", "name": "semaphorin 3E", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sema3e" }, { "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": "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": "sos1", "symbol": "SOS1", "hgnc": "HGNC:11187", "name": "SOS Ras/Rac guanine nucleotide exchange factor 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sos1" }, { "slug": "sos2", "symbol": "SOS2", "hgnc": "HGNC:11188", "name": "SOS Ras/Rho guanine nucleotide exchange factor 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sos2" }, { "slug": "spred2", "symbol": "SPRED2", "hgnc": "HGNC:17722", "name": "sprouty related EVH1 domain containing 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/spred2" }, { "slug": "stx16", "symbol": "STX16", "hgnc": "HGNC:11431", "name": "syntaxin 16", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/stx16" }, { "slug": "tasp1", "symbol": "TASP1", "hgnc": "HGNC:15859", "name": "taspase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tasp1" }, { "slug": "tbx22", "symbol": "TBX22", "hgnc": "HGNC:11600", "name": "T-box transcription factor 22", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tbx22" }, { "slug": "tcf12", "symbol": "TCF12", "hgnc": "HGNC:11623", "name": "transcription factor 12", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/tcf12" }, { "slug": "trio", "symbol": "TRIO", "hgnc": "HGNC:12303", "name": "trio Rho guanine nucleotide exchange factor", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/trio" }, { "slug": "twist2", "symbol": "TWIST2", "hgnc": "HGNC:20670", "name": "twist family bHLH transcription factor 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/twist2" }, { "slug": "upf3b", "symbol": "UPF3B", "hgnc": "HGNC:20439", "name": "UPF3B regulator of nonsense mediated mRNA decay", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/upf3b" }, { "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": "wac", "symbol": "WAC", "hgnc": "HGNC:17327", "name": "WW domain containing adaptor with coiled-coil", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/wac" }, { "slug": "washc5", "symbol": "WASHC5", "hgnc": "HGNC:28984", "name": "WASH complex subunit 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/washc5" }, { "slug": "wdr11", "symbol": "WDR11", "hgnc": "HGNC:13831", "name": "WD repeat domain 11", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/wdr11" }, { "slug": "wnt4", "symbol": "WNT4", "hgnc": "HGNC:12783", "name": "Wnt family member 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/wnt4" }, { "slug": "zdhhc9", "symbol": "ZDHHC9", "hgnc": "HGNC:18475", "name": "zDHHC palmitoyltransferase 9", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/zdhhc9" }, { "slug": "zic1", "symbol": "ZIC1", "hgnc": "HGNC:12872", "name": "Zic family zinc finger 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/zic1" }, { "slug": "zrsr2", "symbol": "ZRSR2", "hgnc": "HGNC:23019", "name": "zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/zrsr2" }, { "slug": "adnp", "symbol": "ADNP", "hgnc": "HGNC:15766", "name": "activity dependent neuroprotector homeobox", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/adnp" }, { "slug": "alg6", "symbol": "ALG6", "hgnc": "HGNC:23157", "name": "ALG6 alpha-1,3-glucosyltransferase", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/alg6" }, { "slug": "cdh11", "symbol": "CDH11", "hgnc": "HGNC:1750", "name": "cadherin 11", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/cdh11" }, { "slug": "gja8", "symbol": "GJA8", "hgnc": "HGNC:4281", "name": "gap junction protein alpha 8", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/gja8" }, { "slug": "pah", "symbol": "PAH", "hgnc": "HGNC:8582", "name": "phenylalanine hydroxylase", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/pah" }, { "slug": "pgm3", "symbol": "PGM3", "hgnc": "HGNC:8907", "name": "phosphoglucomutase 3", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/pgm3" }, { "slug": "arid1a", "symbol": "ARID1A", "hgnc": "HGNC:11110", "name": "AT-rich interaction domain 1A", "diseases": 1, "url": "https://dantelabs.com/genes/arid1a" }, { "slug": "arid2", "symbol": "ARID2", "hgnc": "HGNC:18037", "name": "AT-rich interaction domain 2", "diseases": 1, "url": "https://dantelabs.com/genes/arid2" }, { "slug": "atp6v1b2", "symbol": "ATP6V1B2", "hgnc": "HGNC:854", "name": "ATPase H+ transporting V1 subunit B2", "diseases": 1, "url": "https://dantelabs.com/genes/atp6v1b2" }, { "slug": "bmp4", "symbol": "BMP4", "hgnc": "HGNC:1071", "name": "bone morphogenetic protein 4", "diseases": 1, "url": "https://dantelabs.com/genes/bmp4" }, { "slug": "c12orf57", "symbol": "C12orf57", "hgnc": "HGNC:29521", "name": "chromosome 12 open reading frame 57", "diseases": 1, "url": "https://dantelabs.com/genes/c12orf57" }, { "slug": "camk2g", "symbol": "CAMK2G", "hgnc": "HGNC:1463", "name": "calcium/calmodulin dependent protein kinase II gamma", "diseases": 1, "url": "https://dantelabs.com/genes/camk2g" }, { "slug": "cant1", "symbol": "CANT1", "hgnc": "HGNC:19721", "name": "calcium activated nucleotidase 1", "diseases": 1, "url": "https://dantelabs.com/genes/cant1" }, { "slug": "ccdc28b", "symbol": "CCDC28B", "hgnc": "HGNC:28163", "name": "coiled-coil domain containing 28B", "diseases": 1, "url": "https://dantelabs.com/genes/ccdc28b" }, { "slug": "ehmt1", "symbol": "EHMT1", "hgnc": "HGNC:24650", "name": "euchromatic histone lysine methyltransferase 1", "diseases": 1, "url": "https://dantelabs.com/genes/ehmt1" }, { "slug": "evc", "symbol": "EVC", "hgnc": "HGNC:3497", "name": "EvC ciliary complex subunit 1", "diseases": 1, "url": "https://dantelabs.com/genes/evc" }, { "slug": "evc2", "symbol": "EVC2", "hgnc": "HGNC:19747", "name": "EvC ciliary complex subunit 2", "diseases": 1, "url": "https://dantelabs.com/genes/evc2" }, { "slug": "fam111a", "symbol": "FAM111A", "hgnc": "HGNC:24725", "name": "FAM111 trypsin like peptidase A", "diseases": 1, "url": "https://dantelabs.com/genes/fam111a" }, { "slug": "gpx4", "symbol": "GPX4", "hgnc": "HGNC:4556", "name": "glutathione peroxidase 4", "diseases": 1, "url": "https://dantelabs.com/genes/gpx4" }, { "slug": "hoxd13", "symbol": "HOXD13", "hgnc": "HGNC:5136", "name": "homeobox D13", "diseases": 3, "url": "https://dantelabs.com/genes/hoxd13" }, { "slug": "iars2", "symbol": "IARS2", "hgnc": "HGNC:29685", "name": "isoleucyl-tRNA synthetase 2, mitochondrial", "diseases": 1, "url": "https://dantelabs.com/genes/iars2" }, { "slug": "ift57", "symbol": "IFT57", "hgnc": "HGNC:17367", "name": "intraflagellar transport 57", "diseases": 1, "url": "https://dantelabs.com/genes/ift57" }, { "slug": "ift81", "symbol": "IFT81", "hgnc": "HGNC:14313", "name": "intraflagellar transport 81", "diseases": 1, "url": "https://dantelabs.com/genes/ift81" }, { "slug": "kat6b", "symbol": "KAT6B", "hgnc": "HGNC:17582", "name": "lysine acetyltransferase 6B", "diseases": 1, "url": "https://dantelabs.com/genes/kat6b" }, { "slug": "kcnj2", "symbol": "KCNJ2", "hgnc": "HGNC:6263", "name": "potassium inwardly rectifying channel subfamily J member 2", "diseases": 1, "url": "https://dantelabs.com/genes/kcnj2" }, { "slug": "kdm5c", "symbol": "KDM5C", "hgnc": "HGNC:11114", "name": "lysine demethylase 5C", "diseases": 1, "url": "https://dantelabs.com/genes/kdm5c" }, { "slug": "magel2", "symbol": "MAGEL2", "hgnc": "HGNC:6814", "name": "MAGE family member L2", "diseases": 1, "url": "https://dantelabs.com/genes/magel2" }, { "slug": "map2k1", "symbol": "MAP2K1", "hgnc": "HGNC:6840", "name": "mitogen-activated protein kinase kinase 1", "diseases": 1, "url": "https://dantelabs.com/genes/map2k1" }, { "slug": "papss2", "symbol": "PAPSS2", "hgnc": "HGNC:8604", "name": "3'-phosphoadenosine 5'-phosphosulfate synthase 2", "diseases": 1, "url": "https://dantelabs.com/genes/papss2" }, { "slug": "pax3", "symbol": "PAX3", "hgnc": "HGNC:8617", "name": "paired box 3", "diseases": 1, "url": "https://dantelabs.com/genes/pax3" }, { "slug": "pigk", "symbol": "PIGK", "hgnc": "HGNC:8965", "name": "phosphatidylinositol glycan anchor biosynthesis class K", "diseases": 1, "url": "https://dantelabs.com/genes/pigk" }, { "slug": "poc1a", "symbol": "POC1A", "hgnc": "HGNC:24488", "name": "POC1 centriolar protein A", "diseases": 1, "url": "https://dantelabs.com/genes/poc1a" }, { "slug": "pomp", "symbol": "POMP", "hgnc": "HGNC:20330", "name": "proteasome maturation protein", "diseases": 1, "url": "https://dantelabs.com/genes/pomp" }, { "slug": "pop1", "symbol": "POP1", "hgnc": "HGNC:30129", "name": "POP1 ribonuclease P/MRP subunit", "diseases": 1, "url": "https://dantelabs.com/genes/pop1" }, { "slug": "porcn", "symbol": "PORCN", "hgnc": "HGNC:17652", "name": "porcupine O-acyltransferase", "diseases": 1, "url": "https://dantelabs.com/genes/porcn" }, { "slug": "ppm1d", "symbol": "PPM1D", "hgnc": "HGNC:9277", "name": "protein phosphatase, Mg2+/Mn2+ dependent 1D", "diseases": 1, "url": "https://dantelabs.com/genes/ppm1d" }, { "slug": "pthlh", "symbol": "PTHLH", "hgnc": "HGNC:9607", "name": "parathyroid hormone like hormone", "diseases": 1, "url": "https://dantelabs.com/genes/pthlh" }, { "slug": "rlim", "symbol": "RLIM", "hgnc": "HGNC:13429", "name": "ring finger protein, LIM domain interacting", "diseases": 1, "url": "https://dantelabs.com/genes/rlim" }, { "slug": "rmrp", "symbol": "RMRP", "hgnc": "HGNC:10031", "name": "RNA component of mitochondrial RNA processing endoribonuclease", "diseases": 1, "url": "https://dantelabs.com/genes/rmrp" }, { "slug": "slc35d1", "symbol": "SLC35D1", "hgnc": "HGNC:20800", "name": "solute carrier family 35 member D1", "diseases": 1, "url": "https://dantelabs.com/genes/slc35d1" }, { "slug": "slurp1", "symbol": "SLURP1", "hgnc": "HGNC:18746", "name": "secreted LY6/PLAUR domain containing 1", "diseases": 1, "url": "https://dantelabs.com/genes/slurp1" }, { "slug": "smc1a", "symbol": "SMC1A", "hgnc": "HGNC:11111", "name": "structural maintenance of chromosomes 1A", "diseases": 1, "url": "https://dantelabs.com/genes/smc1a" }, { "slug": "smc3", "symbol": "SMC3", "hgnc": "HGNC:2468", "name": "structural maintenance of chromosomes 3", "diseases": 1, "url": "https://dantelabs.com/genes/smc3" }, { "slug": "spart", "symbol": "SPART", "hgnc": "HGNC:18514", "name": "spartin", "diseases": 1, "url": "https://dantelabs.com/genes/spart" }, { "slug": "stambp", "symbol": "STAMBP", "hgnc": "HGNC:16950", "name": "STAM binding protein", "diseases": 1, "url": "https://dantelabs.com/genes/stambp" }, { "slug": "tgfbr2", "symbol": "TGFBR2", "hgnc": "HGNC:11773", "name": "transforming growth factor beta receptor 2", "diseases": 1, "url": "https://dantelabs.com/genes/tgfbr2" }, { "slug": "tmem67", "symbol": "TMEM67", "hgnc": "HGNC:28396", "name": "transmembrane protein 67", "diseases": 1, "url": "https://dantelabs.com/genes/tmem67" }, { "slug": "tnnt3", "symbol": "TNNT3", "hgnc": "HGNC:11950", "name": "troponin T3, fast skeletal type", "diseases": 1, "url": "https://dantelabs.com/genes/tnnt3" }, { "slug": "wnt7a", "symbol": "WNT7A", "hgnc": "HGNC:12786", "name": "Wnt family member 7A", "diseases": 1, "url": "https://dantelabs.com/genes/wnt7a" }, { "slug": "yy1ap1", "symbol": "YY1AP1", "hgnc": "HGNC:30935", "name": "YY1 associated protein 1", "diseases": 1, "url": "https://dantelabs.com/genes/yy1ap1" }, { "slug": "zmiz1", "symbol": "ZMIZ1", "hgnc": "HGNC:16493", "name": "zinc finger MIZ-type containing 1", "diseases": 1, "url": "https://dantelabs.com/genes/zmiz1" } ] } }