{ "url": "https://dantelabs.com/traits/pectus-excavatum", "trait": { "bundleId": "2026.10.17-8666dff2", "release": "2026-09-01", "slug": "pectus-excavatum", "id": "HP:0000767", "name": "Funnel chest", "label": "Pectus excavatum", "definition": "A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance.", "synonyms": [], "systems": [ { "slug": "abnormality-of-the-musculoskeletal-system", "name": "Abnormality of the musculoskeletal system", "url": "https://dantelabs.com/traits/abnormality-of-the-musculoskeletal-system" } ], "broader": [ { "slug": "abnormal-sternum-morphology", "name": "Abnormality of the sternum", "url": "https://dantelabs.com/traits/abnormal-sternum-morphology" } ], "narrower": [ { "slug": "pectus-excavatum-of-inferior-sternum", "name": "Pectus excavatum of inferior sternum", "genes": 6, "url": "https://dantelabs.com/traits/pectus-excavatum-of-inferior-sternum" } ], "genes": [ { "slug": "alpk3", "symbol": "ALPK3", "hgnc": "HGNC:17574", "name": "alpha kinase 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/alpk3" }, { "slug": "atxn7l3", "symbol": "ATXN7L3", "hgnc": "HGNC:25416", "name": "ataxin 7 like 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/atxn7l3" }, { "slug": "bcor", "symbol": "BCOR", "hgnc": "HGNC:20893", "name": "BCL6 corepressor", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/bcor" }, { "slug": "bnip1", "symbol": "BNIP1", "hgnc": "HGNC:1082", "name": "BCL2 interacting protein 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/bnip1" }, { "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": "cilk1", "symbol": "CILK1", "hgnc": "HGNC:21219", "name": "ciliogenesis associated kinase 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/cilk1" }, { "slug": "ciroz", "symbol": "CIROZ", "hgnc": "HGNC:26730", "name": "ciliated left-right organizer protein containing ZP-N domains", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ciroz" }, { "slug": "col2a1", "symbol": "COL2A1", "hgnc": "HGNC:2200", "name": "collagen type II alpha 1 chain", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/col2a1" }, { "slug": "eefsec", "symbol": "EEFSEC", "hgnc": "HGNC:24614", "name": "eukaryotic elongation factor, selenocysteine-tRNA specific", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/eefsec" }, { "slug": "efemp2", "symbol": "EFEMP2", "hgnc": "HGNC:3219", "name": "EGF-like fibulin extracellular matrix protein 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/efemp2" }, { "slug": "esam", "symbol": "ESAM", "hgnc": "HGNC:17474", "name": "endothelial cell adhesion molecule", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/esam" }, { "slug": "fdxr", "symbol": "FDXR", "hgnc": "HGNC:3642", "name": "ferredoxin reductase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/fdxr" }, { "slug": "filip1", "symbol": "FILIP1", "hgnc": "HGNC:21015", "name": "filamin A interacting protein 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/filip1" }, { "slug": "flna", "symbol": "FLNA", "hgnc": "HGNC:3754", "name": "filamin A", "frequency": "obligate", "diseases": 4, "url": "https://dantelabs.com/genes/flna" }, { "slug": "gins3", "symbol": "GINS3", "hgnc": "HGNC:25851", "name": "GINS complex subunit 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/gins3" }, { "slug": "gnpnat1", "symbol": "GNPNAT1", "hgnc": "HGNC:19980", "name": "glucosamine-phosphate N-acetyltransferase 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/gnpnat1" }, { "slug": "gusb", "symbol": "GUSB", "hgnc": "HGNC:4696", "name": "glucuronidase beta", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/gusb" }, { "slug": "igbp1", "symbol": "IGBP1", "hgnc": "HGNC:5461", "name": "immunoglobulin binding protein 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/igbp1" }, { "slug": "itch", "symbol": "ITCH", "hgnc": "HGNC:13890", "name": "itchy E3 ubiquitin protein ligase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/itch" }, { "slug": "kdm2b", "symbol": "KDM2B", "hgnc": "HGNC:13610", "name": "lysine demethylase 2B", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/kdm2b" }, { "slug": "kdm5c", "symbol": "KDM5C", "hgnc": "HGNC:11114", "name": "lysine demethylase 5C", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/kdm5c" }, { "slug": "kif7", "symbol": "KIF7", "hgnc": "HGNC:30497", "name": "kinesin family member 7", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/kif7" }, { "slug": "kras", "symbol": "KRAS", "hgnc": "HGNC:6407", "name": "KRas proto-oncogene, GTPase", "frequency": "obligate", "diseases": 4, "url": "https://dantelabs.com/genes/kras" }, { "slug": "map2k1", "symbol": "MAP2K1", "hgnc": "HGNC:6840", "name": "mitogen-activated protein kinase kinase 1", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/map2k1" }, { "slug": "map2k2", "symbol": "MAP2K2", "hgnc": "HGNC:6842", "name": "mitogen-activated protein kinase kinase 2", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/map2k2" }, { "slug": "mau2", "symbol": "MAU2", "hgnc": "HGNC:29140", "name": "MAU2 sister chromatid cohesion factor", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/mau2" }, { "slug": "myod1", "symbol": "MYOD1", "hgnc": "HGNC:7611", "name": "myogenic differentiation 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/myod1" }, { "slug": "naa10", "symbol": "NAA10", "hgnc": "HGNC:18704", "name": "N-alpha-acetyltransferase 10, NatA catalytic subunit", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/naa10" }, { "slug": "pan2", "symbol": "PAN2", "hgnc": "HGNC:20074", "name": "poly(A) specific ribonuclease subunit PAN2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pan2" }, { "slug": "pigq", "symbol": "PIGQ", "hgnc": "HGNC:14135", "name": "phosphatidylinositol glycan anchor biosynthesis class Q", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pigq" }, { "slug": "pum1", "symbol": "PUM1", "hgnc": "HGNC:14957", "name": "pumilio RNA binding family member 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pum1" }, { "slug": "rab5if", "symbol": "RAB5IF", "hgnc": "HGNC:15870", "name": "RAB5 interacting factor", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rab5if" }, { "slug": "rmp64", "symbol": "RMP64", "hgnc": "HGNC:24496", "name": "ribonuclease MRP subunit p64", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rmp64" }, { "slug": "sec24d", "symbol": "SEC24D", "hgnc": "HGNC:10706", "name": "SEC24 homolog D, COPII component", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/sec24d" }, { "slug": "sik3", "symbol": "SIK3", "hgnc": "HGNC:29165", "name": "SIK family kinase 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/sik3" }, { "slug": "slc37a4", "symbol": "SLC37A4", "hgnc": "HGNC:4061", "name": "solute carrier family 37 member 4", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/slc37a4" }, { "slug": "sms", "symbol": "SMS", "hgnc": "HGNC:11123", "name": "spermine synthase", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/sms" }, { "slug": "sos1", "symbol": "SOS1", "hgnc": "HGNC:11187", "name": "SOS Ras/Rac guanine nucleotide exchange factor 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/sos1" }, { "slug": "spred2", "symbol": "SPRED2", "hgnc": "HGNC:17722", "name": "sprouty related EVH1 domain containing 2", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/spred2" }, { "slug": "tbcb", "symbol": "TBCB", "hgnc": "HGNC:1989", "name": "tubulin folding cofactor B", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/tbcb" }, { "slug": "tbck", "symbol": "TBCK", "hgnc": "HGNC:28261", "name": "TBC1 domain containing kinase", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/tbck" }, { "slug": "tgfbr1", "symbol": "TGFBR1", "hgnc": "HGNC:11772", "name": "transforming growth factor beta receptor 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/tgfbr1" }, { "slug": "wdr19", "symbol": "WDR19", "hgnc": "HGNC:18340", "name": "WD repeat domain 19", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/wdr19" }, { "slug": "wdr35", "symbol": "WDR35", "hgnc": "HGNC:29250", "name": "WD repeat domain 35", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/wdr35" }, { "slug": "atp6v0a2", "symbol": "ATP6V0A2", "hgnc": "HGNC:18481", "name": "ATPase H+ transporting V0 subunit a2", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/atp6v0a2" }, { "slug": "atp7a", "symbol": "ATP7A", "hgnc": "HGNC:869", "name": "ATPase copper transporting alpha", "frequency": "very-frequent", "diseases": 3, "url": "https://dantelabs.com/genes/atp7a" }, { "slug": "cbl", "symbol": "CBL", "hgnc": "HGNC:1541", "name": "Cbl proto-oncogene", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/cbl" }, { "slug": "cdh11", "symbol": "CDH11", "hgnc": "HGNC:1750", "name": "cadherin 11", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/cdh11" }, { "slug": "chrng", "symbol": "CHRNG", "hgnc": "HGNC:1967", "name": "cholinergic receptor nicotinic gamma subunit", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/chrng" }, { "slug": "emd", "symbol": "EMD", "hgnc": "HGNC:3331", "name": "emerin", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/emd" }, { "slug": "fhl1", "symbol": "FHL1", "hgnc": "HGNC:3702", "name": "four and a half LIM domains 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fhl1" }, { "slug": "lmna", "symbol": "LMNA", "hgnc": "HGNC:6636", "name": "lamin A/C", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/lmna" }, { "slug": "lztr1", "symbol": "LZTR1", "hgnc": "HGNC:6742", "name": "leucine zipper like post translational regulator 1", "frequency": "very-frequent", "diseases": 3, "url": "https://dantelabs.com/genes/lztr1" }, { "slug": "mras", "symbol": "MRAS", "hgnc": "HGNC:7227", "name": "muscle RAS oncogene homolog", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/mras" }, { "slug": "myh3", "symbol": "MYH3", "hgnc": "HGNC:7573", "name": "myosin heavy chain 3", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/myh3" }, { "slug": "nras", "symbol": "NRAS", "hgnc": "HGNC:7989", "name": "NRAS proto-oncogene, GTPase", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/nras" }, { "slug": "piezo2", "symbol": "PIEZO2", "hgnc": "HGNC:26270", "name": "piezo type mechanosensitive ion channel component 2", "frequency": "very-frequent", "diseases": 5, "url": "https://dantelabs.com/genes/piezo2" }, { "slug": "ptch1", "symbol": "PTCH1", "hgnc": "HGNC:9585", "name": "patched 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ptch1" }, { "slug": "ptpn11", "symbol": "PTPN11", "hgnc": "HGNC:9644", "name": "protein tyrosine phosphatase non-receptor type 11", "frequency": "very-frequent", "diseases": 3, "url": "https://dantelabs.com/genes/ptpn11" }, { "slug": "raf1", "symbol": "RAF1", "hgnc": "HGNC:9829", "name": "Raf-1 proto-oncogene, serine/threonine kinase", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/raf1" }, { "slug": "rasa2", "symbol": "RASA2", "hgnc": "HGNC:9872", "name": "RAS p21 protein activator 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rasa2" }, { "slug": "rit1", "symbol": "RIT1", "hgnc": "HGNC:10023", "name": "Ras like without CAAX 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rit1" }, { "slug": "rps6ka3", "symbol": "RPS6KA3", "hgnc": "HGNC:10432", "name": "ribosomal protein S6 kinase A3", "frequency": "very-frequent", "diseases": 3, "url": "https://dantelabs.com/genes/rps6ka3" }, { "slug": "rras", "symbol": "RRAS", "hgnc": "HGNC:10447", "name": "RAS related", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rras" }, { "slug": "rras2", "symbol": "RRAS2", "hgnc": "HGNC:17271", "name": "RAS related 2", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/rras2" }, { "slug": "sos2", "symbol": "SOS2", "hgnc": "HGNC:11188", "name": "SOS Ras/Rho guanine nucleotide exchange factor 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sos2" }, { "slug": "syne1", "symbol": "SYNE1", "hgnc": "HGNC:17089", "name": "spectrin repeat containing nuclear envelope protein 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/syne1" }, { "slug": "syne2", "symbol": "SYNE2", "hgnc": "HGNC:17084", "name": "spectrin repeat containing nuclear envelope protein 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/syne2" }, { "slug": "tgfbr2", "symbol": "TGFBR2", "hgnc": "HGNC:11773", "name": "transforming growth factor beta receptor 2", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/tgfbr2" }, { "slug": "tmco1", "symbol": "TMCO1", "hgnc": "HGNC:18188", "name": "transmembrane and coiled-coil domains 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tmco1" }, { "slug": "tmem43", "symbol": "TMEM43", "hgnc": "HGNC:28472", "name": "transmembrane protein 43", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tmem43" }, { "slug": "abl1", "symbol": "ABL1", "hgnc": "HGNC:76", "name": "ABL proto-oncogene 1, non-receptor tyrosine kinase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/abl1" }, { "slug": "actb", "symbol": "ACTB", "hgnc": "HGNC:132", "name": "actin beta", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/actb" }, { "slug": "ahdc1", "symbol": "AHDC1", "hgnc": "HGNC:25230", "name": "AT-hook DNA binding motif containing 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ahdc1" }, { "slug": "anapc7", "symbol": "ANAPC7", "hgnc": "HGNC:17380", "name": "anaphase promoting complex subunit 7", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/anapc7" }, { "slug": "ap1g1", "symbol": "AP1G1", "hgnc": "HGNC:555", "name": "adaptor related protein complex 1 subunit gamma 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ap1g1" }, { "slug": "arid2", "symbol": "ARID2", "hgnc": "HGNC:18037", "name": "AT-rich interaction domain 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/arid2" }, { "slug": "cbs", "symbol": "CBS", "hgnc": "HGNC:1550", "name": "cystathionine beta-synthase", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/cbs" }, { "slug": "cd96", "symbol": "CD96", "hgnc": "HGNC:16892", "name": "CD96 molecule", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cd96" }, { "slug": "chst14", "symbol": "CHST14", "hgnc": "HGNC:24464", "name": "carbohydrate sulfotransferase 14", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/chst14" }, { "slug": "col1a2", "symbol": "COL1A2", "hgnc": "HGNC:2198", "name": "collagen type I alpha 2 chain", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/col1a2" }, { "slug": "col5a1", "symbol": "COL5A1", "hgnc": "HGNC:2209", "name": "collagen type V alpha 1 chain", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/col5a1" }, { "slug": "csgalnact1", "symbol": "CSGALNACT1", "hgnc": "HGNC:24290", "name": "chondroitin sulfate N-acetylgalactosaminyltransferase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/csgalnact1" }, { "slug": "dicer1", "symbol": "DICER1", "hgnc": "HGNC:17098", "name": "dicer 1, ribonuclease III", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dicer1" }, { "slug": "dlk1", "symbol": "DLK1", "hgnc": "HGNC:2907", "name": "delta like non-canonical Notch ligand 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/dlk1" }, { "slug": "dnmt3b", "symbol": "DNMT3B", "hgnc": "HGNC:2979", "name": "DNA methyltransferase 3 beta", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dnmt3b" }, { "slug": "dux4", "symbol": "DUX4", "hgnc": "HGNC:50800", "name": "double homeobox 4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dux4" }, { "slug": "dux4l1", "symbol": "DUX4L1", "hgnc": "HGNC:3082", "name": "double homeobox 4 like 1 (pseudogene)", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dux4l1" }, { "slug": "dvl1", "symbol": "DVL1", "hgnc": "HGNC:3084", "name": "dishevelled segment polarity protein 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/dvl1" }, { "slug": "dvl3", "symbol": "DVL3", "hgnc": "HGNC:3087", "name": "dishevelled segment polarity protein 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dvl3" }, { "slug": "dyrk1a", "symbol": "DYRK1A", "hgnc": "HGNC:3091", "name": "dual specificity tyrosine phosphorylation regulated kinase 1A", "frequency": "frequent", "diseases": 3, "url": "https://dantelabs.com/genes/dyrk1a" }, { "slug": "efemp1", "symbol": "EFEMP1", "hgnc": "HGNC:3218", "name": "EGF-like fibulin extracellular matrix protein 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/efemp1" }, { "slug": "erf", "symbol": "ERF", "hgnc": "HGNC:3444", "name": "ETS2 repressor factor", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/erf" }, { "slug": "eri1", "symbol": "ERI1", "hgnc": "HGNC:23994", "name": "exoribonuclease 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/eri1" }, { "slug": "farsb", "symbol": "FARSB", "hgnc": "HGNC:17800", "name": "phenylalanyl-tRNA synthetase subunit beta", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/farsb" }, { "slug": "fbn1", "symbol": "FBN1", "hgnc": "HGNC:3603", "name": "fibrillin 1", "frequency": "frequent", "diseases": 4, "url": "https://dantelabs.com/genes/fbn1" }, { "slug": "fktn", "symbol": "FKTN", "hgnc": "HGNC:3622", "name": "fukutin", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/fktn" }, { "slug": "frg1", "symbol": "FRG1", "hgnc": "HGNC:3954", "name": "FSHD region gene 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/frg1" }, { "slug": "fzd2", "symbol": "FZD2", "hgnc": "HGNC:4040", "name": "frizzled class receptor 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fzd2" }, { "slug": "gpc3", "symbol": "GPC3", "hgnc": "HGNC:4451", "name": "glypican 3", "frequency": "frequent", "diseases": 2, "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": "hes7", "symbol": "HES7", "hgnc": "HGNC:15977", "name": "hes family bHLH transcription factor 7", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hes7" }, { "slug": "hnrnpk", "symbol": "HNRNPK", "hgnc": "HGNC:5044", "name": "heterogeneous nuclear ribonucleoprotein K", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hnrnpk" }, { "slug": "hsd17b4", "symbol": "HSD17B4", "hgnc": "HGNC:5213", "name": "hydroxysteroid 17-beta dehydrogenase 4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hsd17b4" }, { "slug": "hyal2", "symbol": "HYAL2", "hgnc": "HGNC:5321", "name": "hyaluronidase 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hyal2" }, { "slug": "ift122", "symbol": "IFT122", "hgnc": "HGNC:13556", "name": "intraflagellar transport 122", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ift122" }, { "slug": "ift140", "symbol": "IFT140", "hgnc": "HGNC:29077", "name": "intraflagellar transport 140", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ift140" }, { "slug": "ift43", "symbol": "IFT43", "hgnc": "HGNC:29669", "name": "intraflagellar transport 43", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ift43" }, { "slug": "ift52", "symbol": "IFT52", "hgnc": "HGNC:15901", "name": "intraflagellar transport 52", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ift52" }, { "slug": "igf1r", "symbol": "IGF1R", "hgnc": "HGNC:5465", "name": "insulin like growth factor 1 receptor", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/igf1r" }, { "slug": "ints1", "symbol": "INTS1", "hgnc": "HGNC:24555", "name": "integrator complex subunit 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ints1" }, { "slug": "ipo8", "symbol": "IPO8", "hgnc": "HGNC:9853", "name": "importin 8", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ipo8" }, { "slug": "irx5", "symbol": "IRX5", "hgnc": "HGNC:14361", "name": "iroquois homeobox 5", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/irx5" }, { "slug": "kdelr2", "symbol": "KDELR2", "hgnc": "HGNC:6305", "name": "KDEL endoplasmic reticulum protein retention receptor 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kdelr2" }, { "slug": "mecp2", "symbol": "MECP2", "hgnc": "HGNC:6990", "name": "methyl-CpG binding protein 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mecp2" }, { "slug": "med12", "symbol": "MED12", "hgnc": "HGNC:11957", "name": "mediator complex subunit 12", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/med12" }, { "slug": "meg3", "symbol": "MEG3", "hgnc": "HGNC:14575", "name": "maternally expressed 3", "frequency": "frequent", "diseases": 2, "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": 2, "url": "https://dantelabs.com/genes/mgat2" }, { "slug": "msto1", "symbol": "MSTO1", "hgnc": "HGNC:29678", "name": "misato mitochondrial distribution and morphology regulator 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/msto1" }, { "slug": "nf1", "symbol": "NF1", "hgnc": "HGNC:7765", "name": "neurofibromin 1", "frequency": "frequent", "diseases": 3, "url": "https://dantelabs.com/genes/nf1" }, { "slug": "nfix", "symbol": "NFIX", "hgnc": "HGNC:7788", "name": "nuclear factor I X", "frequency": "frequent", "diseases": 3, "url": "https://dantelabs.com/genes/nfix" }, { "slug": "notch3", "symbol": "NOTCH3", "hgnc": "HGNC:7883", "name": "notch receptor 3", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/notch3" }, { "slug": "nxn", "symbol": "NXN", "hgnc": "HGNC:18008", "name": "nucleoredoxin", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nxn" }, { "slug": "osgep", "symbol": "OSGEP", "hgnc": "HGNC:18028", "name": "O-sialoglycoprotein endopeptidase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/osgep" }, { "slug": "pigl", "symbol": "PIGL", "hgnc": "HGNC:8966", "name": "phosphatidylinositol glycan anchor biosynthesis class L", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/pigl" }, { "slug": "pigt", "symbol": "PIGT", "hgnc": "HGNC:14938", "name": "phosphatidylinositol glycan anchor biosynthesis class T", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/pigt" }, { "slug": "ppp1cb", "symbol": "PPP1CB", "hgnc": "HGNC:9282", "name": "protein phosphatase 1 catalytic subunit beta", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ppp1cb" }, { "slug": "ppp2r1a", "symbol": "PPP2R1A", "hgnc": "HGNC:9302", "name": "protein phosphatase 2 scaffold subunit Aalpha", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ppp2r1a" }, { "slug": "prr12", "symbol": "PRR12", "hgnc": "HGNC:29217", "name": "proline rich 12", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/prr12" }, { "slug": "pten", "symbol": "PTEN", "hgnc": "HGNC:9588", "name": "phosphatase and tensin homolog", "frequency": "frequent", "diseases": 3, "url": "https://dantelabs.com/genes/pten" }, { "slug": "pycr1", "symbol": "PYCR1", "hgnc": "HGNC:9721", "name": "pyrroline-5-carboxylate reductase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pycr1" }, { "slug": "rin2", "symbol": "RIN2", "hgnc": "HGNC:18750", "name": "Ras and Rab interactor 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rin2" }, { "slug": "rnu5b-1", "symbol": "RNU5B-1", "hgnc": "HGNC:10212", "name": "RNA, U5B small nuclear 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rnu5b-1" }, { "slug": "ror2", "symbol": "ROR2", "hgnc": "HGNC:10257", "name": "ROR family WNT receptor 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ror2" }, { "slug": "rtl1", "symbol": "RTL1", "hgnc": "HGNC:14665", "name": "retrotransposon Gag like 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/rtl1" }, { "slug": "scn4a", "symbol": "SCN4A", "hgnc": "HGNC:10591", "name": "sodium voltage-gated channel alpha subunit 4", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/scn4a" }, { "slug": "sel1l", "symbol": "SEL1L", "hgnc": "HGNC:10717", "name": "SEL1L adaptor subunit of SYVN1 ubiquitin ligase", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/sel1l" }, { "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": "ski", "symbol": "SKI", "hgnc": "HGNC:10896", "name": "SKI proto-oncogene", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ski" }, { "slug": "slc16a2", "symbol": "SLC16A2", "hgnc": "HGNC:10923", "name": "solute carrier family 16 member 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/slc16a2" }, { "slug": "slc9a6", "symbol": "SLC9A6", "hgnc": "HGNC:11079", "name": "solute carrier family 9 member A6", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/slc9a6" }, { "slug": "smchd1", "symbol": "SMCHD1", "hgnc": "HGNC:29090", "name": "structural maintenance of chromosomes flexible hinge domain containing 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/smchd1" }, { "slug": "tbx5", "symbol": "TBX5", "hgnc": "HGNC:11604", "name": "T-box transcription factor 5", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/tbx5" }, { "slug": "trip4", "symbol": "TRIP4", "hgnc": "HGNC:12310", "name": "thyroid hormone receptor interactor 4", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/trip4" }, { "slug": "upf3b", "symbol": "UPF3B", "hgnc": "HGNC:20439", "name": "UPF3B regulator of nonsense mediated mRNA decay", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/upf3b" }, { "slug": "vps33a", "symbol": "VPS33A", "hgnc": "HGNC:18179", "name": "VPS33A core subunit of CORVET and HOPS complexes", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/vps33a" }, { "slug": "wnt5a", "symbol": "WNT5A", "hgnc": "HGNC:12784", "name": "Wnt family member 5A", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/wnt5a" }, { "slug": "zbtb20", "symbol": "ZBTB20", "hgnc": "HGNC:13503", "name": "zinc finger and BTB domain containing 20", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/zbtb20" }, { "slug": "zdhhc9", "symbol": "ZDHHC9", "hgnc": "HGNC:18475", "name": "zDHHC palmitoyltransferase 9", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/zdhhc9" }, { "slug": "acta1", "symbol": "ACTA1", "hgnc": "HGNC:129", "name": "actin alpha 1, skeletal muscle", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/acta1" }, { "slug": "adgrg1", "symbol": "ADGRG1", "hgnc": "HGNC:4512", "name": "adhesion G protein-coupled receptor G1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/adgrg1" }, { "slug": "adnp", "symbol": "ADNP", "hgnc": "HGNC:15766", "name": "activity dependent neuroprotector homeobox", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/adnp" }, { "slug": "aebp1", "symbol": "AEBP1", "hgnc": "HGNC:303", "name": "AE binding protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/aebp1" }, { "slug": "asph", "symbol": "ASPH", "hgnc": "HGNC:757", "name": "aspartate beta-hydroxylase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/asph" }, { "slug": "asxl1", "symbol": "ASXL1", "hgnc": "HGNC:18318", "name": "ASXL transcriptional regulator 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/asxl1" }, { "slug": "atg7", "symbol": "ATG7", "hgnc": "HGNC:16935", "name": "autophagy related 7", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/atg7" }, { "slug": "atp2b1", "symbol": "ATP2B1", "hgnc": "HGNC:814", "name": "ATPase plasma membrane Ca2+ transporting 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/atp2b1" }, { "slug": "b3galt6", "symbol": "B3GALT6", "hgnc": "HGNC:17978", "name": "beta-1,3-galactosyltransferase 6", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/b3galt6" }, { "slug": "baz1b", "symbol": "BAZ1B", "hgnc": "HGNC:961", "name": "bromodomain adjacent to zinc finger domain 1B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/baz1b" }, { "slug": "bcl11a", "symbol": "BCL11A", "hgnc": "HGNC:13221", "name": "BCL11 transcription factor A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bcl11a" }, { "slug": "bcorl1", "symbol": "BCORL1", "hgnc": "HGNC:25657", "name": "BCL6 corepressor like 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bcorl1" }, { "slug": "bicd2", "symbol": "BICD2", "hgnc": "HGNC:17208", "name": "BICD cargo adaptor 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bicd2" }, { "slug": "bicra", "symbol": "BICRA", "hgnc": "HGNC:4332", "name": "BRD4 interacting chromatin remodeling complex associated protein", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bicra" }, { "slug": "brd4", "symbol": "BRD4", "hgnc": "HGNC:13575", "name": "bromodomain containing 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/brd4" }, { "slug": "bud23", "symbol": "BUD23", "hgnc": "HGNC:16405", "name": "BUD23 rRNA methyltransferase and ribosome maturation factor", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bud23" }, { "slug": "ca2", "symbol": "CA2", "hgnc": "HGNC:1373", "name": "carbonic anhydrase 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ca2" }, { "slug": "cdc42bpb", "symbol": "CDC42BPB", "hgnc": "HGNC:1738", "name": "CDC42 binding protein kinase beta", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cdc42bpb" }, { "slug": "cfl2", "symbol": "CFL2", "hgnc": "HGNC:1875", "name": "cofilin 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cfl2" }, { "slug": "chrm3", "symbol": "CHRM3", "hgnc": "HGNC:1952", "name": "cholinergic receptor muscarinic 3", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/chrm3" }, { "slug": "chst11", "symbol": "CHST11", "hgnc": "HGNC:17422", "name": "carbohydrate sulfotransferase 11", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/chst11" }, { "slug": "clip2", "symbol": "CLIP2", "hgnc": "HGNC:2586", "name": "CAP-Gly domain containing linker protein 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/clip2" }, { "slug": "col11a2", "symbol": "COL11A2", "hgnc": "HGNC:2187", "name": "collagen type XI alpha 2 chain", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/col11a2" }, { "slug": "col12a1", "symbol": "COL12A1", "hgnc": "HGNC:2188", "name": "collagen type XII alpha 1 chain", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/col12a1" }, { "slug": "col3a1", "symbol": "COL3A1", "hgnc": "HGNC:2201", "name": "collagen type III alpha 1 chain", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/col3a1" }, { "slug": "creld1", "symbol": "CRELD1", "hgnc": "HGNC:14630", "name": "CRELD disulfide isomerase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/creld1" }, { "slug": "cux1", "symbol": "CUX1", "hgnc": "HGNC:2557", "name": "cut like homeobox 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cux1" }, { "slug": "ddr2", "symbol": "DDR2", "hgnc": "HGNC:2731", "name": "discoidin domain receptor tyrosine kinase 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ddr2" }, { "slug": "dnajc30", "symbol": "DNAJC30", "hgnc": "HGNC:16410", "name": "DnaJ heat shock protein family (Hsp40) member C30", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dnajc30" }, { "slug": "dpf2", "symbol": "DPF2", "hgnc": "HGNC:9964", "name": "double PHD fingers 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dpf2" }, { "slug": "efnb1", "symbol": "EFNB1", "hgnc": "HGNC:3226", "name": "ephrin B1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/efnb1" }, { "slug": "ehmt1", "symbol": "EHMT1", "hgnc": "HGNC:24650", "name": "euchromatic histone lysine methyltransferase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ehmt1" }, { "slug": "eif4h", "symbol": "EIF4H", "hgnc": "HGNC:12741", "name": "eukaryotic translation initiation factor 4H", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/eif4h" }, { "slug": "eln", "symbol": "ELN", "hgnc": "HGNC:3327", "name": "elastin", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/eln" }, { "slug": "epg5", "symbol": "EPG5", "hgnc": "HGNC:29331", "name": "ectopic P-granules 5 autophagy tethering factor", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/epg5" }, { "slug": "extl3", "symbol": "EXTL3", "hgnc": "HGNC:3518", "name": "exostosin like glycosyltransferase 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/extl3" }, { "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": "fbn2", "symbol": "FBN2", "hgnc": "HGNC:3604", "name": "fibrillin 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fbn2" }, { "slug": "fgd1", "symbol": "FGD1", "hgnc": "HGNC:3663", "name": "FYVE, RhoGEF and PH domain containing 1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/fgd1" }, { "slug": "fgfr1", "symbol": "FGFR1", "hgnc": "HGNC:3688", "name": "fibroblast growth factor receptor 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fgfr1" }, { "slug": "fkbp6", "symbol": "FKBP6", "hgnc": "HGNC:3722", "name": "FKBP prolyl isomerase family member 6 (inactive)", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fkbp6" }, { "slug": "gdf11", "symbol": "GDF11", "hgnc": "HGNC:4216", "name": "growth differentiation factor 11", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gdf11" }, { "slug": "gnb1", "symbol": "GNB1", "hgnc": "HGNC:4396", "name": "G protein subunit beta 1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/gnb1" }, { "slug": "gnptab", "symbol": "GNPTAB", "hgnc": "HGNC:29670", "name": "N-acetylglucosamine-1-phosphate transferase subunits alpha and beta", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gnptab" }, { "slug": "gtf2i", "symbol": "GTF2I", "hgnc": "HGNC:4659", "name": "general transcription factor IIi", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gtf2i" }, { "slug": "gtf2ird1", "symbol": "GTF2IRD1", "hgnc": "HGNC:4661", "name": "GTF2I repeat domain containing 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gtf2ird1" }, { "slug": "gtf2ird2", "symbol": "GTF2IRD2", "hgnc": "HGNC:30775", "name": "GTF2I repeat domain containing 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gtf2ird2" }, { "slug": "gtpbp2", "symbol": "GTPBP2", "hgnc": "HGNC:4670", "name": "GTP binding protein 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gtpbp2" }, { "slug": "hacd1", "symbol": "HACD1", "hgnc": "HGNC:9639", "name": "3-hydroxyacyl-CoA dehydratase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/hacd1" }, { "slug": "hdac8", "symbol": "HDAC8", "hgnc": "HGNC:13315", "name": "histone deacetylase 8", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/hdac8" }, { "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": "hspg2", "symbol": "HSPG2", "hgnc": "HGNC:5273", "name": "heparan sulfate proteoglycan 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/hspg2" }, { "slug": "ihh", "symbol": "IHH", "hgnc": "HGNC:5956", "name": "Indian hedgehog signaling molecule", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/ihh" }, { "slug": "inppl1", "symbol": "INPPL1", "hgnc": "HGNC:6080", "name": "inositol polyphosphate phosphatase like 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/inppl1" }, { "slug": "itga7", "symbol": "ITGA7", "hgnc": "HGNC:6143", "name": "integrin subunit alpha 7", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/itga7" }, { "slug": "kansl1", "symbol": "KANSL1", "hgnc": "HGNC:24565", "name": "KAT8 regulatory NSL complex subunit 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kansl1" }, { "slug": "kat6a", "symbol": "KAT6A", "hgnc": "HGNC:13013", "name": "lysine acetyltransferase 6A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kat6a" }, { "slug": "kdm5a", "symbol": "KDM5A", "hgnc": "HGNC:9886", "name": "lysine demethylase 5A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kdm5a" }, { "slug": "klhl20", "symbol": "KLHL20", "hgnc": "HGNC:25056", "name": "kelch like family member 20", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/klhl20" }, { "slug": "klhl41", "symbol": "KLHL41", "hgnc": "HGNC:16905", "name": "kelch like family member 41", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/klhl41" }, { "slug": "kmt2a", "symbol": "KMT2A", "hgnc": "HGNC:7132", "name": "lysine methyltransferase 2A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kmt2a" }, { "slug": "lef1", "symbol": "LEF1", "hgnc": "HGNC:6551", "name": "lymphoid enhancer binding factor 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lef1" }, { "slug": "limk1", "symbol": "LIMK1", "hgnc": "HGNC:6613", "name": "LIM domain kinase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/limk1" }, { "slug": "lmbrd2", "symbol": "LMBRD2", "hgnc": "HGNC:25287", "name": "LMBR1 domain containing 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lmbrd2" }, { "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": 2, "url": "https://dantelabs.com/genes/lmx1b" }, { "slug": "lox", "symbol": "LOX", "hgnc": "HGNC:6664", "name": "lysyl oxidase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lox" }, { "slug": "lrp4", "symbol": "LRP4", "hgnc": "HGNC:6696", "name": "LDL receptor related protein 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lrp4" }, { "slug": "ltbp1", "symbol": "LTBP1", "hgnc": "HGNC:6714", "name": "latent transforming growth factor beta binding protein 1", "frequency": "occasional", "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": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ltbp2" }, { "slug": "maf", "symbol": "MAF", "hgnc": "HGNC:6776", "name": "MAF bZIP transcription factor", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/maf" }, { "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": "map3k20", "symbol": "MAP3K20", "hgnc": "HGNC:17797", "name": "mitogen-activated protein kinase kinase kinase 20", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/map3k20" }, { "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": "matn3", "symbol": "MATN3", "hgnc": "HGNC:6909", "name": "matrilin 3", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/matn3" }, { "slug": "mbtps2", "symbol": "MBTPS2", "hgnc": "HGNC:15455", "name": "membrane bound transcription factor peptidase, site 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mbtps2" }, { "slug": "megf8", "symbol": "MEGF8", "hgnc": "HGNC:3233", "name": "multiple EGF like domains 8", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/megf8" }, { "slug": "met", "symbol": "MET", "hgnc": "HGNC:7029", "name": "MET proto-oncogene, receptor tyrosine kinase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/met" }, { "slug": "mettl27", "symbol": "METTL27", "hgnc": "HGNC:19068", "name": "methyltransferase like 27", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mettl27" }, { "slug": "mfap5", "symbol": "MFAP5", "hgnc": "HGNC:29673", "name": "microfibril associated protein 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mfap5" }, { "slug": "mlxipl", "symbol": "MLXIPL", "hgnc": "HGNC:12744", "name": "MLX interacting protein like", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mlxipl" }, { "slug": "msl2", "symbol": "MSL2", "hgnc": "HGNC:25544", "name": "MSL complex subunit 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/msl2" }, { "slug": "mtx2", "symbol": "MTX2", "hgnc": "HGNC:7506", "name": "metaxin 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mtx2" }, { "slug": "myl2", "symbol": "MYL2", "hgnc": "HGNC:7583", "name": "myosin light chain 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/myl2" }, { "slug": "mypn", "symbol": "MYPN", "hgnc": "HGNC:23246", "name": "myopalladin", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/mypn" }, { "slug": "nars1", "symbol": "NARS1", "hgnc": "HGNC:7643", "name": "asparaginyl-tRNA synthetase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nars1" }, { "slug": "ncf1", "symbol": "NCF1", "hgnc": "HGNC:7660", "name": "neutrophil cytosolic factor 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ncf1" }, { "slug": "neb", "symbol": "NEB", "hgnc": "HGNC:7720", "name": "nebulin", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/neb" }, { "slug": "nek1", "symbol": "NEK1", "hgnc": "HGNC:7744", "name": "NIMA related kinase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nek1" }, { "slug": "nipbl", "symbol": "NIPBL", "hgnc": "HGNC:28862", "name": "NIPBL cohesin loading factor", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nipbl" }, { "slug": "nkap", "symbol": "NKAP", "hgnc": "HGNC:29873", "name": "NFKB activating protein", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nkap" }, { "slug": "npr3", "symbol": "NPR3", "hgnc": "HGNC:7945", "name": "natriuretic peptide receptor 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/npr3" }, { "slug": "nup107", "symbol": "NUP107", "hgnc": "HGNC:29914", "name": "nucleoporin 107", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nup107" }, { "slug": "pacs1", "symbol": "PACS1", "hgnc": "HGNC:30032", "name": "phosphofurin acidic cluster sorting protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pacs1" }, { "slug": "pcgf2", "symbol": "PCGF2", "hgnc": "HGNC:12929", "name": "polycomb group ring finger 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pcgf2" }, { "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": "pi4ka", "symbol": "PI4KA", "hgnc": "HGNC:8983", "name": "phosphatidylinositol 4-kinase alpha", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pi4ka" }, { "slug": "pigb", "symbol": "PIGB", "hgnc": "HGNC:8959", "name": "phosphatidylinositol glycan anchor biosynthesis class B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pigb" }, { "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": "pigu", "symbol": "PIGU", "hgnc": "HGNC:15791", "name": "phosphatidylinositol glycan anchor biosynthesis class U", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pigu" }, { "slug": "pigv", "symbol": "PIGV", "hgnc": "HGNC:26031", "name": "phosphatidylinositol glycan anchor biosynthesis class V", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pigv" }, { "slug": "pigw", "symbol": "PIGW", "hgnc": "HGNC:23213", "name": "phosphatidylinositol glycan anchor biosynthesis class W", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pigw" }, { "slug": "pigy", "symbol": "PIGY", "hgnc": "HGNC:28213", "name": "phosphatidylinositol glycan anchor biosynthesis class Y", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pigy" }, { "slug": "pik3ca", "symbol": "PIK3CA", "hgnc": "HGNC:8975", "name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha", "frequency": "occasional", "diseases": 3, "url": "https://dantelabs.com/genes/pik3ca" }, { "slug": "plod1", "symbol": "PLOD1", "hgnc": "HGNC:9081", "name": "procollagen-lysine,2-oxoglutarate 5-dioxygenase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/plod1" }, { "slug": "plxnd1", "symbol": "PLXND1", "hgnc": "HGNC:9107", "name": "plexin D1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/plxnd1" }, { "slug": "polr2a", "symbol": "POLR2A", "hgnc": "HGNC:9187", "name": "RNA polymerase II subunit A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/polr2a" }, { "slug": "ppp1r15b", "symbol": "PPP1R15B", "hgnc": "HGNC:14951", "name": "protein phosphatase 1 regulatory subunit 15B", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/ppp1r15b" }, { "slug": "pqbp1", "symbol": "PQBP1", "hgnc": "HGNC:9330", "name": "polyglutamine binding protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pqbp1" }, { "slug": "prokr2", "symbol": "PROKR2", "hgnc": "HGNC:15836", "name": "prokineticin receptor 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/prokr2" }, { "slug": "ptbp1", "symbol": "PTBP1", "hgnc": "HGNC:9583", "name": "polypyrimidine tract binding protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ptbp1" }, { "slug": "puf60", "symbol": "PUF60", "hgnc": "HGNC:17042", "name": "poly(U) binding splicing factor 60", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/puf60" }, { "slug": "pyroxd1", "symbol": "PYROXD1", "hgnc": "HGNC:26162", "name": "pyridine nucleotide-disulphide oxidoreductase domain 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pyroxd1" }, { "slug": "rad21", "symbol": "RAD21", "hgnc": "HGNC:9811", "name": "RAD21 cohesin complex component", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rad21" }, { "slug": "rbm10", "symbol": "RBM10", "hgnc": "HGNC:9896", "name": "RNA binding motif protein 10", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/rbm10" }, { "slug": "rel", "symbol": "REL", "hgnc": "HGNC:9954", "name": "REL proto-oncogene, NF-kB subunit", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rel" }, { "slug": "rfc2", "symbol": "RFC2", "hgnc": "HGNC:9970", "name": "replication factor C subunit 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rfc2" }, { "slug": "rpl17", "symbol": "RPL17", "hgnc": "HGNC:10307", "name": "ribosomal protein L17", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rpl17" }, { "slug": "scaf4", "symbol": "SCAF4", "hgnc": "HGNC:19304", "name": "SR-related CTD associated factor 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/scaf4" }, { "slug": "selenon", "symbol": "SELENON", "hgnc": "HGNC:15999", "name": "selenoprotein N", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/selenon" }, { "slug": "slc2a10", "symbol": "SLC2A10", "hgnc": "HGNC:13444", "name": "solute carrier family 2 member 10", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/slc2a10" }, { "slug": "smad2", "symbol": "SMAD2", "hgnc": "HGNC:6768", "name": "SMAD family member 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/smad2" }, { "slug": "smad3", "symbol": "SMAD3", "hgnc": "HGNC:6769", "name": "SMAD family member 3", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/smad3" }, { "slug": "smc1a", "symbol": "SMC1A", "hgnc": "HGNC:11111", "name": "structural maintenance of chromosomes 1A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/smc1a" }, { "slug": "smc3", "symbol": "SMC3", "hgnc": "HGNC:2468", "name": "structural maintenance of chromosomes 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/smc3" }, { "slug": "specc1l", "symbol": "SPECC1L", "hgnc": "HGNC:29022", "name": "sperm antigen with calponin homology and coiled-coil domains 1 like", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/specc1l" }, { "slug": "spred1", "symbol": "SPRED1", "hgnc": "HGNC:20249", "name": "sprouty related EVH1 domain containing 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/spred1" }, { "slug": "srpx2", "symbol": "SRPX2", "hgnc": "HGNC:30668", "name": "sushi repeat containing protein X-linked 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/srpx2" }, { "slug": "sry", "symbol": "SRY", "hgnc": "HGNC:11311", "name": "sex determining region Y", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sry" }, { "slug": "stx1a", "symbol": "STX1A", "hgnc": "HGNC:11433", "name": "syntaxin 1A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/stx1a" }, { "slug": "taf1", "symbol": "TAF1", "hgnc": "HGNC:11535", "name": "TATA-box binding protein associated factor 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/taf1" }, { "slug": "tbl2", "symbol": "TBL2", "hgnc": "HGNC:11586", "name": "transducin beta like 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tbl2" }, { "slug": "telo2", "symbol": "TELO2", "hgnc": "HGNC:29099", "name": "telomere maintenance 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/telo2" }, { "slug": "tgds", "symbol": "TGDS", "hgnc": "HGNC:20324", "name": "TDP-glucose 4,6-dehydratase", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/tgds" }, { "slug": "tgfb2", "symbol": "TGFB2", "hgnc": "HGNC:11768", "name": "transforming growth factor beta 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tgfb2" }, { "slug": "tgfb3", "symbol": "TGFB3", "hgnc": "HGNC:11769", "name": "transforming growth factor beta 3", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/tgfb3" }, { "slug": "thsd4", "symbol": "THSD4", "hgnc": "HGNC:25835", "name": "thrombospondin type 1 domain containing 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/thsd4" }, { "slug": "tmem270", "symbol": "TMEM270", "hgnc": "HGNC:23018", "name": "transmembrane protein 270", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tmem270" }, { "slug": "tmem94", "symbol": "TMEM94", "hgnc": "HGNC:28983", "name": "transmembrane protein 94", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tmem94" }, { "slug": "tpm2", "symbol": "TPM2", "hgnc": "HGNC:12011", "name": "tropomyosin 2", "frequency": "occasional", "diseases": 3, "url": "https://dantelabs.com/genes/tpm2" }, { "slug": "tpm3", "symbol": "TPM3", "hgnc": "HGNC:12012", "name": "tropomyosin 3", "frequency": "occasional", "diseases": 3, "url": "https://dantelabs.com/genes/tpm3" }, { "slug": "trio", "symbol": "TRIO", "hgnc": "HGNC:12303", "name": "trio Rho guanine nucleotide exchange factor", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/trio" }, { "slug": "trmt10a", "symbol": "TRMT10A", "hgnc": "HGNC:28403", "name": "tRNA methyltransferase 10A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/trmt10a" }, { "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": "tubb", "symbol": "TUBB", "hgnc": "HGNC:20778", "name": "tubulin beta class I", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tubb" }, { "slug": "vps13b", "symbol": "VPS13B", "hgnc": "HGNC:2183", "name": "vacuolar protein sorting 13 homolog B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/vps13b" }, { "slug": "vps37d", "symbol": "VPS37D", "hgnc": "HGNC:18287", "name": "VPS37D subunit of ESCRT-I", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/vps37d" }, { "slug": "wbp11", "symbol": "WBP11", "hgnc": "HGNC:16461", "name": "WW domain binding protein 11", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/wbp11" }, { "slug": "wdr11", "symbol": "WDR11", "hgnc": "HGNC:13831", "name": "WD repeat domain 11", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/wdr11" }, { "slug": "xpo1", "symbol": "XPO1", "hgnc": "HGNC:12825", "name": "exportin 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/xpo1" }, { "slug": "xylt1", "symbol": "XYLT1", "hgnc": "HGNC:15516", "name": "xylosyltransferase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/xylt1" }, { "slug": "zeb2", "symbol": "ZEB2", "hgnc": "HGNC:14881", "name": "zinc finger E-box binding homeobox 2", "frequency": "occasional", "diseases": 3, "url": "https://dantelabs.com/genes/zeb2" }, { "slug": "zfx", "symbol": "ZFX", "hgnc": "HGNC:12869", "name": "zinc finger protein X-linked", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/zfx" }, { "slug": "zmiz1", "symbol": "ZMIZ1", "hgnc": "HGNC:16493", "name": "zinc finger MIZ-type containing 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/zmiz1" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "hgnc": "HGNC:403", "name": "aldehyde dehydrogenase 3 family member A2", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/aldh3a2" }, { "slug": "apc2", "symbol": "APC2", "hgnc": "HGNC:24036", "name": "APC regulator of Wnt signaling pathway 2", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/apc2" }, { "slug": "ccdc47", "symbol": "CCDC47", "hgnc": "HGNC:24856", "name": "coiled-coil domain containing 47", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/ccdc47" }, { "slug": "ebf3", "symbol": "EBF3", "hgnc": "HGNC:19087", "name": "EBF transcription factor 3", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/ebf3" }, { "slug": "gba1", "symbol": "GBA1", "hgnc": "HGNC:4177", "name": "glucosylceramidase beta 1", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/gba1" }, { "slug": "gja5", "symbol": "GJA5", "hgnc": "HGNC:4279", "name": "gap junction protein alpha 5", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/gja5" }, { "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": "kdm6b", "symbol": "KDM6B", "hgnc": "HGNC:29012", "name": "lysine demethylase 6B", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/kdm6b" }, { "slug": "map3k7", "symbol": "MAP3K7", "hgnc": "HGNC:6859", "name": "mitogen-activated protein kinase kinase kinase 7", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/map3k7" }, { "slug": "nsd1", "symbol": "NSD1", "hgnc": "HGNC:14234", "name": "nuclear receptor binding SET domain protein 1", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/nsd1" }, { "slug": "tbcd", "symbol": "TBCD", "hgnc": "HGNC:11581", "name": "tubulin folding cofactor D", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/tbcd" }, { "slug": "adamtsl2", "symbol": "ADAMTSL2", "hgnc": "HGNC:14631", "name": "ADAMTS like 2", "diseases": 1, "url": "https://dantelabs.com/genes/adamtsl2" }, { "slug": "aldh18a1", "symbol": "ALDH18A1", "hgnc": "HGNC:9722", "name": "aldehyde dehydrogenase 18 family member A1", "diseases": 1, "url": "https://dantelabs.com/genes/aldh18a1" }, { "slug": "amer1", "symbol": "AMER1", "hgnc": "HGNC:26837", "name": "APC membrane recruitment protein 1", "diseases": 1, "url": "https://dantelabs.com/genes/amer1" }, { "slug": "b3glct", "symbol": "B3GLCT", "hgnc": "HGNC:20207", "name": "beta 3-glucosyltransferase", "diseases": 1, "url": "https://dantelabs.com/genes/b3glct" }, { "slug": "bmp2", "symbol": "BMP2", "hgnc": "HGNC:1069", "name": "bone morphogenetic protein 2", "diseases": 1, "url": "https://dantelabs.com/genes/bmp2" }, { "slug": "ccbe1", "symbol": "CCBE1", "hgnc": "HGNC:29426", "name": "collagen and calcium binding EGF domains 1", "diseases": 1, "url": "https://dantelabs.com/genes/ccbe1" }, { "slug": "cog4", "symbol": "COG4", "hgnc": "HGNC:18620", "name": "component of oligomeric golgi complex 4", "diseases": 1, "url": "https://dantelabs.com/genes/cog4" }, { "slug": "crebbp", "symbol": "CREBBP", "hgnc": "HGNC:2348", "name": "CREB binding lysine acetyltransferase", "diseases": 1, "url": "https://dantelabs.com/genes/crebbp" }, { "slug": "crtap", "symbol": "CRTAP", "hgnc": "HGNC:2379", "name": "cartilage associated protein", "diseases": 1, "url": "https://dantelabs.com/genes/crtap" }, { "slug": "cul7", "symbol": "CUL7", "hgnc": "HGNC:21024", "name": "cullin 7", "diseases": 1, "url": "https://dantelabs.com/genes/cul7" }, { "slug": "dhodh", "symbol": "DHODH", "hgnc": "HGNC:2867", "name": "dihydroorotate dehydrogenase (quinone)", "diseases": 1, "url": "https://dantelabs.com/genes/dhodh" }, { "slug": "ep300", "symbol": "EP300", "hgnc": "HGNC:3373", "name": "EP300 lysine acetyltransferase", "diseases": 1, "url": "https://dantelabs.com/genes/ep300" }, { "slug": "fbln5", "symbol": "FBLN5", "hgnc": "HGNC:3602", "name": "fibulin 5", "diseases": 1, "url": "https://dantelabs.com/genes/fbln5" }, { "slug": "fgfr3", "symbol": "FGFR3", "hgnc": "HGNC:3690", "name": "fibroblast growth factor receptor 3", "diseases": 1, "url": "https://dantelabs.com/genes/fgfr3" }, { "slug": "flnb", "symbol": "FLNB", "hgnc": "HGNC:3755", "name": "filamin B", "diseases": 1, "url": "https://dantelabs.com/genes/flnb" }, { "slug": "fmr1", "symbol": "FMR1", "hgnc": "HGNC:3775", "name": "fragile X messenger ribonucleoprotein 1", "diseases": 1, "url": "https://dantelabs.com/genes/fmr1" }, { "slug": "hpgd", "symbol": "HPGD", "hgnc": "HGNC:5154", "name": "15-hydroxyprostaglandin dehydrogenase", "diseases": 1, "url": "https://dantelabs.com/genes/hpgd" }, { "slug": "huwe1", "symbol": "HUWE1", "hgnc": "HGNC:30892", "name": "HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1", "diseases": 1, "url": "https://dantelabs.com/genes/huwe1" }, { "slug": "megf10", "symbol": "MEGF10", "hgnc": "HGNC:29634", "name": "multiple EGF like domains 10", "diseases": 1, "url": "https://dantelabs.com/genes/megf10" }, { "slug": "myf5", "symbol": "MYF5", "hgnc": "HGNC:7565", "name": "myogenic factor 5", "diseases": 1, "url": "https://dantelabs.com/genes/myf5" }, { "slug": "nog", "symbol": "NOG", "hgnc": "HGNC:7866", "name": "noggin", "diseases": 1, "url": "https://dantelabs.com/genes/nog" }, { "slug": "pdhx", "symbol": "PDHX", "hgnc": "HGNC:21350", "name": "pyruvate dehydrogenase complex component X", "diseases": 1, "url": "https://dantelabs.com/genes/pdhx" }, { "slug": "piezo1", "symbol": "PIEZO1", "hgnc": "HGNC:28993", "name": "piezo type mechanosensitive ion channel component 1 (Er blood group)", "diseases": 1, "url": "https://dantelabs.com/genes/piezo1" }, { "slug": "ppib", "symbol": "PPIB", "hgnc": "HGNC:9255", "name": "peptidylprolyl isomerase B", "diseases": 1, "url": "https://dantelabs.com/genes/ppib" }, { "slug": "rab3gap2", "symbol": "RAB3GAP2", "hgnc": "HGNC:17168", "name": "RAB3 GTPase activating non-catalytic protein subunit 2", "diseases": 1, "url": "https://dantelabs.com/genes/rab3gap2" }, { "slug": "ret", "symbol": "RET", "hgnc": "HGNC:9967", "name": "ret proto-oncogene", "diseases": 1, "url": "https://dantelabs.com/genes/ret" }, { "slug": "scarf2", "symbol": "SCARF2", "hgnc": "HGNC:19869", "name": "scavenger receptor class F member 2", "diseases": 1, "url": "https://dantelabs.com/genes/scarf2" }, { "slug": "sh3pxd2b", "symbol": "SH3PXD2B", "hgnc": "HGNC:29242", "name": "SH3 and PX domains 2B", "diseases": 1, "url": "https://dantelabs.com/genes/sh3pxd2b" }, { "slug": "sox10", "symbol": "SOX10", "hgnc": "HGNC:11190", "name": "SRY-box transcription factor 10", "diseases": 1, "url": "https://dantelabs.com/genes/sox10" }, { "slug": "sprtn", "symbol": "SPRTN", "hgnc": "HGNC:25356", "name": "SprT-like N-terminal domain", "diseases": 1, "url": "https://dantelabs.com/genes/sprtn" }, { "slug": "tctn3", "symbol": "TCTN3", "hgnc": "HGNC:24519", "name": "tectonic family member 3", "diseases": 1, "url": "https://dantelabs.com/genes/tctn3" } ] } }