{ "url": "https://dantelabs.com/traits/retrognathia", "trait": { "bundleId": "2026.10.17-8666dff2", "release": "2026-09-01", "slug": "retrognathia", "id": "HP:0000278", "name": "Receding chin", "label": "Retrognathia", "definition": "An abnormality in which the mandible is mislocalised posteriorly.", "synonyms": [ "Receding lower jaw", "Weak chin", "Weak jaw", "Lower jaw retrognathia", "Lower jaw retrusion", "Mandibular retrognathia", "Mandibular retrusion", "Receding mandible", "Retrognathia of lower jaw", "Retrusion of lower jaw" ], "systems": [ { "slug": "abnormality-of-head-or-neck", "name": "Abnormality of head or neck", "url": "https://dantelabs.com/traits/abnormality-of-head-or-neck" }, { "slug": "abnormality-of-the-musculoskeletal-system", "name": "Abnormality of the musculoskeletal system", "url": "https://dantelabs.com/traits/abnormality-of-the-musculoskeletal-system" } ], "broader": [ { "slug": "abnormal-mandible-morphology", "name": "Abnormality of the lower jaw bone", "url": "https://dantelabs.com/traits/abnormal-mandible-morphology" } ], "narrower": [ { "slug": "microretrognathia", "name": "Small retruded chin", "genes": 80, "url": "https://dantelabs.com/traits/microretrognathia" } ], "genes": [ { "slug": "alg9", "symbol": "ALG9", "hgnc": "HGNC:15672", "name": "ALG9 alpha-1,2-mannosyltransferase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/alg9" }, { "slug": "ap3d1", "symbol": "AP3D1", "hgnc": "HGNC:568", "name": "adaptor related protein complex 3 subunit delta 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ap3d1" }, { "slug": "arid2", "symbol": "ARID2", "hgnc": "HGNC:18037", "name": "AT-rich interaction domain 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/arid2" }, { "slug": "arnt2", "symbol": "ARNT2", "hgnc": "HGNC:16876", "name": "aryl hydrocarbon receptor nuclear translocator 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/arnt2" }, { "slug": "asph", "symbol": "ASPH", "hgnc": "HGNC:757", "name": "aspartate beta-hydroxylase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/asph" }, { "slug": "atpaf2", "symbol": "ATPAF2", "hgnc": "HGNC:18802", "name": "ATP synthase mitochondrial F1 complex assembly factor 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/atpaf2" }, { "slug": "c1galt1c1", "symbol": "C1GALT1C1", "hgnc": "HGNC:24338", "name": "C1GALT1 specific chaperone 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/c1galt1c1" }, { "slug": "ccdc88a", "symbol": "CCDC88A", "hgnc": "HGNC:25523", "name": "coiled-coil and HOOK domain protein 88A", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ccdc88a" }, { "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": "cog7", "symbol": "COG7", "hgnc": "HGNC:18622", "name": "component of oligomeric golgi complex 7", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/cog7" }, { "slug": "cpap", "symbol": "CPAP", "hgnc": "HGNC:17272", "name": "centrosome assembly and centriole elongation protein", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/cpap" }, { "slug": "dhx9", "symbol": "DHX9", "hgnc": "HGNC:2750", "name": "DExH-box helicase 9", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/dhx9" }, { "slug": "eed", "symbol": "EED", "hgnc": "HGNC:3188", "name": "embryonic ectoderm development", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/eed" }, { "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": "ercc2", "symbol": "ERCC2", "hgnc": "HGNC:3434", "name": "ERCC excision repair 2, TFIIH core complex helicase subunit", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/ercc2" }, { "slug": "erf", "symbol": "ERF", "hgnc": "HGNC:3444", "name": "ETS2 repressor factor", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/erf" }, { "slug": "exosc1", "symbol": "EXOSC1", "hgnc": "HGNC:17286", "name": "exosome component 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/exosc1" }, { "slug": "ezh2", "symbol": "EZH2", "hgnc": "HGNC:3527", "name": "enhancer of zeste 2 polycomb repressive complex 2 subunit", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/ezh2" }, { "slug": "fastkd5", "symbol": "FASTKD5", "hgnc": "HGNC:25790", "name": "FASTK mitochondrial RNA regulator 5", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/fastkd5" }, { "slug": "fbn1", "symbol": "FBN1", "hgnc": "HGNC:3603", "name": "fibrillin 1", "frequency": "obligate", "diseases": 4, "url": "https://dantelabs.com/genes/fbn1" }, { "slug": "flna", "symbol": "FLNA", "hgnc": "HGNC:3754", "name": "filamin A", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/flna" }, { "slug": "fto", "symbol": "FTO", "hgnc": "HGNC:24678", "name": "FTO alpha-ketoglutarate dependent dioxygenase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/fto" }, { "slug": "hnrnph1", "symbol": "HNRNPH1", "hgnc": "HGNC:5041", "name": "heterogeneous nuclear ribonucleoprotein H1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/hnrnph1" }, { "slug": "igbp1", "symbol": "IGBP1", "hgnc": "HGNC:5461", "name": "immunoglobulin binding protein 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/igbp1" }, { "slug": "ints11", "symbol": "INTS11", "hgnc": "HGNC:26052", "name": "integrator complex subunit 11", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ints11" }, { "slug": "intu", "symbol": "INTU", "hgnc": "HGNC:29239", "name": "inturned planar cell polarity protein", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/intu" }, { "slug": "jkamp", "symbol": "JKAMP", "hgnc": "HGNC:20184", "name": "JNK1/MAPK8 associated membrane protein", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/jkamp" }, { "slug": "kdm6a", "symbol": "KDM6A", "hgnc": "HGNC:12637", "name": "lysine demethylase 6A", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/kdm6a" }, { "slug": "kif15", "symbol": "KIF15", "hgnc": "HGNC:17273", "name": "kinesin family member 15", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/kif15" }, { "slug": "klhl20", "symbol": "KLHL20", "hgnc": "HGNC:25056", "name": "kelch like family member 20", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/klhl20" }, { "slug": "kmt2d", "symbol": "KMT2D", "hgnc": "HGNC:7133", "name": "lysine methyltransferase 2D", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/kmt2d" }, { "slug": "kptn", "symbol": "KPTN", "hgnc": "HGNC:6404", "name": "kaptin, actin binding protein", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/kptn" }, { "slug": "lbr", "symbol": "LBR", "hgnc": "HGNC:6518", "name": "lamin B receptor", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/lbr" }, { "slug": "lgi4", "symbol": "LGI4", "hgnc": "HGNC:18712", "name": "leucine rich repeat LGI family member 4", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/lgi4" }, { "slug": "mapkapk5", "symbol": "MAPKAPK5", "hgnc": "HGNC:6889", "name": "MAPK activated protein kinase 5", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/mapkapk5" }, { "slug": "med16", "symbol": "MED16", "hgnc": "HGNC:17556", "name": "mediator complex subunit 16", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/med16" }, { "slug": "mogs", "symbol": "MOGS", "hgnc": "HGNC:24862", "name": "mannosyl-oligosaccharide glucosidase", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/mogs" }, { "slug": "mycn", "symbol": "MYCN", "hgnc": "HGNC:7559", "name": "MYCN proto-oncogene, bHLH transcription factor", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/mycn" }, { "slug": "mymk", "symbol": "MYMK", "hgnc": "HGNC:33778", "name": "myomaker, myoblast fusion factor", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/mymk" }, { "slug": "nav3", "symbol": "NAV3", "hgnc": "HGNC:15998", "name": "neuron navigator 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nav3" }, { "slug": "nbn", "symbol": "NBN", "hgnc": "HGNC:7652", "name": "nibrin", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/nbn" }, { "slug": "nudt2", "symbol": "NUDT2", "hgnc": "HGNC:8049", "name": "nudix hydrolase 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nudt2" }, { "slug": "nup188", "symbol": "NUP188", "hgnc": "HGNC:17859", "name": "nucleoporin 188", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nup188" }, { "slug": "nup88", "symbol": "NUP88", "hgnc": "HGNC:8067", "name": "nucleoporin 88", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nup88" }, { "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": "puf60", "symbol": "PUF60", "hgnc": "HGNC:17042", "name": "poly(U) binding splicing factor 60", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/puf60" }, { "slug": "rap1gds1", "symbol": "RAP1GDS1", "hgnc": "HGNC:9859", "name": "Rap1 GTPase-GDP dissociation stimulator 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rap1gds1" }, { "slug": "rmp64", "symbol": "RMP64", "hgnc": "HGNC:24496", "name": "ribonuclease MRP subunit p64", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rmp64" }, { "slug": "rpl17", "symbol": "RPL17", "hgnc": "HGNC:10307", "name": "ribosomal protein L17", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rpl17" }, { "slug": "rsrc1", "symbol": "RSRC1", "hgnc": "HGNC:24152", "name": "arginine and serine rich coiled-coil 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rsrc1" }, { "slug": "scnm1", "symbol": "SCNM1", "hgnc": "HGNC:23136", "name": "sodium channel modifier 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/scnm1" }, { "slug": "smc1a", "symbol": "SMC1A", "hgnc": "HGNC:11111", "name": "structural maintenance of chromosomes 1A", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/smc1a" }, { "slug": "taf4", "symbol": "TAF4", "hgnc": "HGNC:11537", "name": "TATA-box binding protein associated factor 4", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/taf4" }, { "slug": "tgfb3", "symbol": "TGFB3", "hgnc": "HGNC:11769", "name": "transforming growth factor beta 3", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/tgfb3" }, { "slug": "tmem107", "symbol": "TMEM107", "hgnc": "HGNC:28128", "name": "transmembrane protein 107", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/tmem107" }, { "slug": "txndc15", "symbol": "TXNDC15", "hgnc": "HGNC:20652", "name": "thioredoxin domain containing 15", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/txndc15" }, { "slug": "uba2", "symbol": "UBA2", "hgnc": "HGNC:30661", "name": "ubiquitin like modifier activating enzyme 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/uba2" }, { "slug": "ubr5", "symbol": "UBR5", "hgnc": "HGNC:16806", "name": "ubiquitin protein ligase E3 component n-recognin 5", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ubr5" }, { "slug": "actb", "symbol": "ACTB", "hgnc": "HGNC:132", "name": "actin beta", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/actb" }, { "slug": "actg1", "symbol": "ACTG1", "hgnc": "HGNC:144", "name": "actin gamma 1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/actg1" }, { "slug": "cdc45", "symbol": "CDC45", "hgnc": "HGNC:1739", "name": "cell division cycle 45", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cdc45" }, { "slug": "cdc6", "symbol": "CDC6", "hgnc": "HGNC:1744", "name": "cell division cycle 6", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cdc6" }, { "slug": "cdt1", "symbol": "CDT1", "hgnc": "HGNC:24576", "name": "chromatin licensing and DNA replication factor 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cdt1" }, { "slug": "dhcr24", "symbol": "DHCR24", "hgnc": "HGNC:2859", "name": "24-dehydrocholesterol reductase", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dhcr24" }, { "slug": "dis3l2", "symbol": "DIS3L2", "hgnc": "HGNC:28648", "name": "DIS3 like 3'-5' exoribonuclease 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dis3l2" }, { "slug": "emc1", "symbol": "EMC1", "hgnc": "HGNC:28957", "name": "ER membrane protein complex subunit 1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/emc1" }, { "slug": "fam20c", "symbol": "FAM20C", "hgnc": "HGNC:22140", "name": "FAM20C golgi associated secretory pathway kinase", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fam20c" }, { "slug": "foxe1", "symbol": "FOXE1", "hgnc": "HGNC:3806", "name": "forkhead box E1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/foxe1" }, { "slug": "gmnn", "symbol": "GMNN", "hgnc": "HGNC:17493", "name": "geminin DNA replication inhibitor", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gmnn" }, { "slug": "hyls1", "symbol": "HYLS1", "hgnc": "HGNC:26558", "name": "HYLS1 centriolar and ciliogenesis associated", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hyls1" }, { "slug": "hymai", "symbol": "HYMAI", "hgnc": "HGNC:5326", "name": "hydatidiform mole associated and imprinted", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hymai" }, { "slug": "ipo8", "symbol": "IPO8", "hgnc": "HGNC:9853", "name": "importin 8", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ipo8" }, { "slug": "kat6b", "symbol": "KAT6B", "hgnc": "HGNC:17582", "name": "lysine acetyltransferase 6B", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kat6b" }, { "slug": "kif7", "symbol": "KIF7", "hgnc": "HGNC:30497", "name": "kinesin family member 7", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kif7" }, { "slug": "nfix", "symbol": "NFIX", "hgnc": "HGNC:7788", "name": "nuclear factor I X", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/nfix" }, { "slug": "nsd1", "symbol": "NSD1", "hgnc": "HGNC:14234", "name": "nuclear receptor binding SET domain protein 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nsd1" }, { "slug": "orc1", "symbol": "ORC1", "hgnc": "HGNC:8487", "name": "origin recognition complex subunit 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/orc1" }, { "slug": "orc4", "symbol": "ORC4", "hgnc": "HGNC:8490", "name": "origin recognition complex subunit 4", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/orc4" }, { "slug": "orc6", "symbol": "ORC6", "hgnc": "HGNC:17151", "name": "origin recognition complex subunit 6", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/orc6" }, { "slug": "piezo2", "symbol": "PIEZO2", "hgnc": "HGNC:26270", "name": "piezo type mechanosensitive ion channel component 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/piezo2" }, { "slug": "plagl1", "symbol": "PLAGL1", "hgnc": "HGNC:9046", "name": "PLAG1 like zinc finger 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/plagl1" }, { "slug": "pola1", "symbol": "POLA1", "hgnc": "HGNC:9173", "name": "DNA polymerase alpha 1, catalytic subunit", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/pola1" }, { "slug": "polr1b", "symbol": "POLR1B", "hgnc": "HGNC:20454", "name": "RNA polymerase I subunit B", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/polr1b" }, { "slug": "polr1c", "symbol": "POLR1C", "hgnc": "HGNC:20194", "name": "RNA polymerase I and III subunit C", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/polr1c" }, { "slug": "polr1d", "symbol": "POLR1D", "hgnc": "HGNC:20422", "name": "RNA polymerase I and III subunit D", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/polr1d" }, { "slug": "polr3a", "symbol": "POLR3A", "hgnc": "HGNC:30074", "name": "RNA polymerase III subunit A", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/polr3a" }, { "slug": "rnu4atac", "symbol": "RNU4ATAC", "hgnc": "HGNC:34016", "name": "RNA, U4atac small nuclear", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rnu4atac" }, { "slug": "ski", "symbol": "SKI", "hgnc": "HGNC:10896", "name": "SKI proto-oncogene", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ski" }, { "slug": "suz12", "symbol": "SUZ12", "hgnc": "HGNC:17101", "name": "SUZ12 polycomb repressive complex 2 subunit", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/suz12" }, { "slug": "tcof1", "symbol": "TCOF1", "hgnc": "HGNC:11654", "name": "treacle ribosome biogenesis factor 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tcof1" }, { "slug": "tctn3", "symbol": "TCTN3", "hgnc": "HGNC:24519", "name": "tectonic family member 3", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/tctn3" }, { "slug": "ube3b", "symbol": "UBE3B", "hgnc": "HGNC:13478", "name": "ubiquitin protein ligase E3B", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ube3b" }, { "slug": "aars1", "symbol": "AARS1", "hgnc": "HGNC:20", "name": "alanyl-tRNA synthetase 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/aars1" }, { "slug": "abat", "symbol": "ABAT", "hgnc": "HGNC:23", "name": "4-aminobutyrate aminotransferase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/abat" }, { "slug": "arid1b", "symbol": "ARID1B", "hgnc": "HGNC:18040", "name": "AT-rich interaction domain 1B", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/arid1b" }, { "slug": "bcl11a", "symbol": "BCL11A", "hgnc": "HGNC:13221", "name": "BCL11 transcription factor A", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/bcl11a" }, { "slug": "bin1", "symbol": "BIN1", "hgnc": "HGNC:1052", "name": "bridging integrator 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bin1" }, { "slug": "blm", "symbol": "BLM", "hgnc": "HGNC:1058", "name": "BLM RecQ like helicase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/blm" }, { "slug": "brcc3", "symbol": "BRCC3", "hgnc": "HGNC:24185", "name": "BRCA1/BRCA2-containing complex subunit 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/brcc3" }, { "slug": "cask", "symbol": "CASK", "hgnc": "HGNC:1497", "name": "calcium/calmodulin dependent serine protein kinase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cask" }, { "slug": "cbl", "symbol": "CBL", "hgnc": "HGNC:1541", "name": "Cbl proto-oncogene", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cbl" }, { "slug": "cep295", "symbol": "CEP295", "hgnc": "HGNC:29366", "name": "centrosomal protein 295", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cep295" }, { "slug": "cntnap1", "symbol": "CNTNAP1", "hgnc": "HGNC:8011", "name": "contactin associated protein 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cntnap1" }, { "slug": "col13a1", "symbol": "COL13A1", "hgnc": "HGNC:2190", "name": "collagen type XIII alpha 1 chain", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/col13a1" }, { "slug": "col1a1", "symbol": "COL1A1", "hgnc": "HGNC:2197", "name": "collagen type I alpha 1 chain", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/col1a1" }, { "slug": "col1a2", "symbol": "COL1A2", "hgnc": "HGNC:2198", "name": "collagen type I alpha 2 chain", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/col1a2" }, { "slug": "cox7b", "symbol": "COX7B", "hgnc": "HGNC:2291", "name": "cytochrome c oxidase subunit 7B", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cox7b" }, { "slug": "ctu2", "symbol": "CTU2", "hgnc": "HGNC:28005", "name": "cytosolic thiouridylase subunit 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ctu2" }, { "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": "dstyk", "symbol": "DSTYK", "hgnc": "HGNC:29043", "name": "dual serine/threonine and tyrosine protein kinase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dstyk" }, { "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": "edem3", "symbol": "EDEM3", "hgnc": "HGNC:16787", "name": "ER degradation enhancing alpha-mannosidase like protein 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/edem3" }, { "slug": "edn1", "symbol": "EDN1", "hgnc": "HGNC:3176", "name": "endothelin 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/edn1" }, { "slug": "efemp2", "symbol": "EFEMP2", "hgnc": "HGNC:3219", "name": "EGF-like fibulin extracellular matrix protein 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/efemp2" }, { "slug": "ep300", "symbol": "EP300", "hgnc": "HGNC:3373", "name": "EP300 lysine acetyltransferase", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ep300" }, { "slug": "exosc5", "symbol": "EXOSC5", "hgnc": "HGNC:24662", "name": "exosome component 5", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/exosc5" }, { "slug": "fbxo31", "symbol": "FBXO31", "hgnc": "HGNC:16510", "name": "F-box protein 31", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fbxo31" }, { "slug": "fbxw11", "symbol": "FBXW11", "hgnc": "HGNC:13607", "name": "F-box and WD repeat domain containing 11", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fbxw11" }, { "slug": "fdft1", "symbol": "FDFT1", "hgnc": "HGNC:3629", "name": "farnesyl-diphosphate farnesyltransferase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fdft1" }, { "slug": "fhl1", "symbol": "FHL1", "hgnc": "HGNC:3702", "name": "four and a half LIM domains 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fhl1" }, { "slug": "foxp1", "symbol": "FOXP1", "hgnc": "HGNC:3823", "name": "forkhead box P1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/foxp1" }, { "slug": "fut8", "symbol": "FUT8", "hgnc": "HGNC:4019", "name": "fucosyltransferase 8", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fut8" }, { "slug": "fzd2", "symbol": "FZD2", "hgnc": "HGNC:4040", "name": "frizzled class receptor 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fzd2" }, { "slug": "h4c3", "symbol": "H4C3", "hgnc": "HGNC:4787", "name": "H4 clustered histone 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/h4c3" }, { "slug": "hba1", "symbol": "HBA1", "hgnc": "HGNC:4823", "name": "hemoglobin subunit alpha 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hba1" }, { "slug": "hba2", "symbol": "HBA2", "hgnc": "HGNC:4824", "name": "hemoglobin subunit alpha 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hba2" }, { "slug": "hccs", "symbol": "HCCS", "hgnc": "HGNC:4837", "name": "holocytochrome c synthase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hccs" }, { "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": "iba57", "symbol": "IBA57", "hgnc": "HGNC:27302", "name": "iron-sulfur cluster assembly factor IBA57", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/iba57" }, { "slug": "igf2", "symbol": "IGF2", "hgnc": "HGNC:5466", "name": "insulin like growth factor 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/igf2" }, { "slug": "kdm2b", "symbol": "KDM2B", "hgnc": "HGNC:13610", "name": "lysine demethylase 2B", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kdm2b" }, { "slug": "lmna", "symbol": "LMNA", "hgnc": "HGNC:6636", "name": "lamin A/C", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/lmna" }, { "slug": "ltbp4", "symbol": "LTBP4", "hgnc": "HGNC:6717", "name": "latent transforming growth factor beta binding protein 4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ltbp4" }, { "slug": "meg3", "symbol": "MEG3", "hgnc": "HGNC:14575", "name": "maternally expressed 3", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/meg3" }, { "slug": "mesd", "symbol": "MESD", "hgnc": "HGNC:13520", "name": "mesoderm development LRP chaperone", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mesd" }, { "slug": "naa80", "symbol": "NAA80", "hgnc": "HGNC:30252", "name": "N-alpha-acetyltransferase 80, NatH catalytic subunit", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/naa80" }, { "slug": "ndufb11", "symbol": "NDUFB11", "hgnc": "HGNC:20372", "name": "NADH:ubiquinone oxidoreductase subunit B11", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ndufb11" }, { "slug": "otud5", "symbol": "OTUD5", "hgnc": "HGNC:25402", "name": "OTU deubiquitinase 5", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/otud5" }, { "slug": "otud6b", "symbol": "OTUD6B", "hgnc": "HGNC:24281", "name": "OTU deubiquitinase 6B", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/otud6b" }, { "slug": "pcnt", "symbol": "PCNT", "hgnc": "HGNC:16068", "name": "pericentrin", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/pcnt" }, { "slug": "pmm2", "symbol": "PMM2", "hgnc": "HGNC:9115", "name": "phosphomannomutase 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pmm2" }, { "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": "polr1a", "symbol": "POLR1A", "hgnc": "HGNC:17264", "name": "RNA polymerase I subunit A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/polr1a" }, { "slug": "prepl", "symbol": "PREPL", "hgnc": "HGNC:30228", "name": "prolyl endopeptidase like", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/prepl" }, { "slug": "prr12", "symbol": "PRR12", "hgnc": "HGNC:29217", "name": "proline rich 12", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/prr12" }, { "slug": "psmd12", "symbol": "PSMD12", "hgnc": "HGNC:9557", "name": "proteasome 26S subunit, non-ATPase 12", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/psmd12" }, { "slug": "pth1r", "symbol": "PTH1R", "hgnc": "HGNC:9608", "name": "parathyroid hormone 1 receptor", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pth1r" }, { "slug": "rel", "symbol": "REL", "hgnc": "HGNC:9954", "name": "REL proto-oncogene, NF-kB subunit", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rel" }, { "slug": "ror2", "symbol": "ROR2", "hgnc": "HGNC:10257", "name": "ROR family WNT receptor 2", "frequency": "frequent", "diseases": 1, "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": "ryr1", "symbol": "RYR1", "hgnc": "HGNC:10483", "name": "ryanodine receptor 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ryr1" }, { "slug": "setd2", "symbol": "SETD2", "hgnc": "HGNC:18420", "name": "SET domain containing 2, histone lysine methyltransferase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/setd2" }, { "slug": "slc29a3", "symbol": "SLC29A3", "hgnc": "HGNC:23096", "name": "solute carrier family 29 member 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/slc29a3" }, { "slug": "slc35b2", "symbol": "SLC35B2", "hgnc": "HGNC:16872", "name": "solute carrier family 35 member B2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/slc35b2" }, { "slug": "slc3a1", "symbol": "SLC3A1", "hgnc": "HGNC:11025", "name": "solute carrier family 3 member 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/slc3a1" }, { "slug": "smc3", "symbol": "SMC3", "hgnc": "HGNC:2468", "name": "structural maintenance of chromosomes 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/smc3" }, { "slug": "speg", "symbol": "SPEG", "hgnc": "HGNC:16901", "name": "striated muscle enriched protein kinase", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/speg" }, { "slug": "tgfb2", "symbol": "TGFB2", "hgnc": "HGNC:11768", "name": "transforming growth factor beta 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/tgfb2" }, { "slug": "tgfbr1", "symbol": "TGFBR1", "hgnc": "HGNC:11772", "name": "transforming growth factor beta receptor 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/tgfbr1" }, { "slug": "tgfbr2", "symbol": "TGFBR2", "hgnc": "HGNC:11773", "name": "transforming growth factor beta receptor 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/tgfbr2" }, { "slug": "thoc6", "symbol": "THOC6", "hgnc": "HGNC:28369", "name": "THO complex subunit 6", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/thoc6" }, { "slug": "tmem70", "symbol": "TMEM70", "hgnc": "HGNC:26050", "name": "transmembrane protein 70", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tmem70" }, { "slug": "tshz3", "symbol": "TSHZ3", "hgnc": "HGNC:30700", "name": "teashirt zinc finger homeobox 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tshz3" }, { "slug": "ttn", "symbol": "TTN", "hgnc": "HGNC:12403", "name": "titin", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ttn" }, { "slug": "usb1", "symbol": "USB1", "hgnc": "HGNC:25792", "name": "U6 snRNA biogenesis phosphodiesterase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/usb1" }, { "slug": "wbp4", "symbol": "WBP4", "hgnc": "HGNC:12739", "name": "WW domain binding protein 4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/wbp4" }, { "slug": "wnt5a", "symbol": "WNT5A", "hgnc": "HGNC:12784", "name": "Wnt family member 5A", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/wnt5a" }, { "slug": "xpo1", "symbol": "XPO1", "hgnc": "HGNC:12825", "name": "exportin 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/xpo1" }, { "slug": "zmpste24", "symbol": "ZMPSTE24", "hgnc": "HGNC:12877", "name": "zinc metallopeptidase STE24", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/zmpste24" }, { "slug": "acta2", "symbol": "ACTA2", "hgnc": "HGNC:130", "name": "actin alpha 2, smooth muscle", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/acta2" }, { "slug": "adamts2", "symbol": "ADAMTS2", "hgnc": "HGNC:218", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/adamts2" }, { "slug": "adamts3", "symbol": "ADAMTS3", "hgnc": "HGNC:219", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/adamts3" }, { "slug": "adamtsl2", "symbol": "ADAMTSL2", "hgnc": "HGNC:14631", "name": "ADAMTS like 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/adamtsl2" }, { "slug": "afg2a", "symbol": "AFG2A", "hgnc": "HGNC:18119", "name": "AAA ATPase AFG2A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/afg2a" }, { "slug": "alg11", "symbol": "ALG11", "hgnc": "HGNC:32456", "name": "ALG11 alpha-1,2-mannosyltransferase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/alg11" }, { "slug": "amer1", "symbol": "AMER1", "hgnc": "HGNC:26837", "name": "APC membrane recruitment protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/amer1" }, { "slug": "arl6", "symbol": "ARL6", "hgnc": "HGNC:13210", "name": "ARF like GTPase 6", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/arl6" }, { "slug": "asxl1", "symbol": "ASXL1", "hgnc": "HGNC:18318", "name": "ASXL transcriptional regulator 1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/asxl1" }, { "slug": "asxl3", "symbol": "ASXL3", "hgnc": "HGNC:29357", "name": "ASXL transcriptional regulator 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/asxl3" }, { "slug": "atg7", "symbol": "ATG7", "hgnc": "HGNC:16935", "name": "autophagy related 7", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/atg7" }, { "slug": "atxn7l3", "symbol": "ATXN7L3", "hgnc": "HGNC:25416", "name": "ataxin 7 like 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/atxn7l3" }, { "slug": "auts2", "symbol": "AUTS2", "hgnc": "HGNC:14262", "name": "activator of transcription and developmental regulator AUTS2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/auts2" }, { "slug": "bbip1", "symbol": "BBIP1", "hgnc": "HGNC:28093", "name": "BBSome interacting protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bbip1" }, { "slug": "bbs1", "symbol": "BBS1", "hgnc": "HGNC:966", "name": "Bardet-Biedl syndrome 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bbs1" }, { "slug": "bbs10", "symbol": "BBS10", "hgnc": "HGNC:26291", "name": "Bardet-Biedl syndrome 10", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bbs10" }, { "slug": "bbs12", "symbol": "BBS12", "hgnc": "HGNC:26648", "name": "Bardet-Biedl syndrome 12", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bbs12" }, { "slug": "bbs2", "symbol": "BBS2", "hgnc": "HGNC:967", "name": "Bardet-Biedl syndrome 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bbs2" }, { "slug": "bbs4", "symbol": "BBS4", "hgnc": "HGNC:969", "name": "Bardet-Biedl syndrome 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bbs4" }, { "slug": "bbs5", "symbol": "BBS5", "hgnc": "HGNC:970", "name": "Bardet-Biedl syndrome 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bbs5" }, { "slug": "bbs7", "symbol": "BBS7", "hgnc": "HGNC:18758", "name": "Bardet-Biedl syndrome 7", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bbs7" }, { "slug": "bbs9", "symbol": "BBS9", "hgnc": "HGNC:30000", "name": "Bardet-Biedl syndrome 9", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bbs9" }, { "slug": "ca2", "symbol": "CA2", "hgnc": "HGNC:1373", "name": "carbonic anhydrase 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ca2" }, { "slug": "cars1", "symbol": "CARS1", "hgnc": "HGNC:1493", "name": "cysteinyl-tRNA synthetase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cars1" }, { "slug": "ccbe1", "symbol": "CCBE1", "hgnc": "HGNC:29426", "name": "collagen and calcium binding EGF domains 1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/ccbe1" }, { "slug": "cep19", "symbol": "CEP19", "hgnc": "HGNC:28209", "name": "centrosomal protein 19", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cep19" }, { "slug": "cep290", "symbol": "CEP290", "hgnc": "HGNC:29021", "name": "centrosomal protein 290", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cep290" }, { "slug": "cfap418", "symbol": "CFAP418", "hgnc": "HGNC:27232", "name": "cilia and flagella associated protein 418", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cfap418" }, { "slug": "chd8", "symbol": "CHD8", "hgnc": "HGNC:20153", "name": "chromodomain helicase DNA binding protein 8", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/chd8" }, { "slug": "cog5", "symbol": "COG5", "hgnc": "HGNC:14857", "name": "component of oligomeric golgi complex 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cog5" }, { "slug": "cog6", "symbol": "COG6", "hgnc": "HGNC:18621", "name": "component of oligomeric golgi complex 6", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cog6" }, { "slug": "ctbp1", "symbol": "CTBP1", "hgnc": "HGNC:2494", "name": "C-terminal binding protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ctbp1" }, { "slug": "ctnnb1", "symbol": "CTNNB1", "hgnc": "HGNC:2514", "name": "catenin beta 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ctnnb1" }, { "slug": "dbr1", "symbol": "DBR1", "hgnc": "HGNC:15594", "name": "debranching RNA lariats 1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/dbr1" }, { "slug": "ddb1", "symbol": "DDB1", "hgnc": "HGNC:2717", "name": "damage specific DNA binding protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ddb1" }, { "slug": "dot1l", "symbol": "DOT1L", "hgnc": "HGNC:24948", "name": "DOT1 like histone lysine methyltransferase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dot1l" }, { "slug": "dpyd", "symbol": "DPYD", "hgnc": "HGNC:3012", "name": "dihydropyrimidine dehydrogenase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dpyd" }, { "slug": "dyrk1a", "symbol": "DYRK1A", "hgnc": "HGNC:3091", "name": "dual specificity tyrosine phosphorylation regulated kinase 1A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dyrk1a" }, { "slug": "eln", "symbol": "ELN", "hgnc": "HGNC:3327", "name": "elastin", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/eln" }, { "slug": "emilin1", "symbol": "EMILIN1", "hgnc": "HGNC:19880", "name": "elastin microfibril interfacer 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/emilin1" }, { "slug": "ercc3", "symbol": "ERCC3", "hgnc": "HGNC:3435", "name": "ERCC excision repair 3, TFIIH core complex helicase subunit", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ercc3" }, { "slug": "exoc7", "symbol": "EXOC7", "hgnc": "HGNC:23214", "name": "exocyst complex component 7", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/exoc7" }, { "slug": "eya1", "symbol": "EYA1", "hgnc": "HGNC:3519", "name": "EYA transcriptional coactivator and phosphatase 1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/eya1" }, { "slug": "fancb", "symbol": "FANCB", "hgnc": "HGNC:3583", "name": "FA complementation group B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fancb" }, { "slug": "fars2", "symbol": "FARS2", "hgnc": "HGNC:21062", "name": "phenylalanyl-tRNA synthetase 2, mitochondrial", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fars2" }, { "slug": "fat4", "symbol": "FAT4", "hgnc": "HGNC:23109", "name": "FAT atypical cadherin 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fat4" }, { "slug": "fbxo11", "symbol": "FBXO11", "hgnc": "HGNC:13590", "name": "F-box protein 11", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fbxo11" }, { "slug": "foxe3", "symbol": "FOXE3", "hgnc": "HGNC:3808", "name": "forkhead box E3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/foxe3" }, { "slug": "fra10ac1", "symbol": "FRA10AC1", "hgnc": "HGNC:1162", "name": "FRA10A associated CGG repeat 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fra10ac1" }, { "slug": "frmpd4", "symbol": "FRMPD4", "hgnc": "HGNC:29007", "name": "FERM and PDZ domain containing 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/frmpd4" }, { "slug": "fryl", "symbol": "FRYL", "hgnc": "HGNC:29127", "name": "FRY like transcription coactivator", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fryl" }, { "slug": "gabra3", "symbol": "GABRA3", "hgnc": "HGNC:4077", "name": "gamma-aminobutyric acid type A receptor subunit alpha3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gabra3" }, { "slug": "gldn", "symbol": "GLDN", "hgnc": "HGNC:29514", "name": "gliomedin", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gldn" }, { "slug": "gtf2e2", "symbol": "GTF2E2", "hgnc": "HGNC:4651", "name": "general transcription factor IIE subunit 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gtf2e2" }, { "slug": "gtf2h5", "symbol": "GTF2H5", "hgnc": "HGNC:21157", "name": "general transcription factor IIH subunit 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gtf2h5" }, { "slug": "h4c5", "symbol": "H4C5", "hgnc": "HGNC:4790", "name": "H4 clustered histone 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/h4c5" }, { "slug": "hectd4", "symbol": "HECTD4", "hgnc": "HGNC:26611", "name": "HECT domain E3 ubiquitin protein ligase 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/hectd4" }, { "slug": "hey2", "symbol": "HEY2", "hgnc": "HGNC:4881", "name": "hes related family bHLH transcription factor with YRPW motif 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/hey2" }, { "slug": "hivep2", "symbol": "HIVEP2", "hgnc": "HGNC:4921", "name": "HIVEP zinc finger 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/hivep2" }, { "slug": "hpdl", "symbol": "HPDL", "hgnc": "HGNC:28242", "name": "4-hydroxyphenylpyruvate dioxygenase like", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/hpdl" }, { "slug": "hs2st1", "symbol": "HS2ST1", "hgnc": "HGNC:5193", "name": "heparan sulfate 2-O-sulfotransferase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/hs2st1" }, { "slug": "idh1", "symbol": "IDH1", "hgnc": "HGNC:5382", "name": "isocitrate dehydrogenase (NADP(+)) 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/idh1" }, { "slug": "ift172", "symbol": "IFT172", "hgnc": "HGNC:30391", "name": "intraflagellar transport 172", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ift172" }, { "slug": "ift27", "symbol": "IFT27", "hgnc": "HGNC:18626", "name": "intraflagellar transport 27", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ift27" }, { "slug": "ift74", "symbol": "IFT74", "hgnc": "HGNC:21424", "name": "intraflagellar transport 74", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ift74" }, { "slug": "jarid2", "symbol": "JARID2", "hgnc": "HGNC:6196", "name": "jumonji and AT-rich interaction domain containing 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/jarid2" }, { "slug": "kif26a", "symbol": "KIF26A", "hgnc": "HGNC:20226", "name": "kinesin family member 26A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kif26a" }, { "slug": "kmt2b", "symbol": "KMT2B", "hgnc": "HGNC:15840", "name": "lysine methyltransferase 2B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kmt2b" }, { "slug": "lox", "symbol": "LOX", "hgnc": "HGNC:6664", "name": "lysyl oxidase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lox" }, { "slug": "lztfl1", "symbol": "LZTFL1", "hgnc": "HGNC:6741", "name": "leucine zipper transcription factor like 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lztfl1" }, { "slug": "madd", "symbol": "MADD", "hgnc": "HGNC:6766", "name": "MAP kinase activating death domain", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/madd" }, { "slug": "mamld1", "symbol": "MAMLD1", "hgnc": "HGNC:2568", "name": "mastermind like domain containing 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mamld1" }, { "slug": "mat2a", "symbol": "MAT2A", "hgnc": "HGNC:6904", "name": "methionine adenosyltransferase 2A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mat2a" }, { "slug": "med25", "symbol": "MED25", "hgnc": "HGNC:28845", "name": "mediator complex subunit 25", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/med25" }, { "slug": "megf8", "symbol": "MEGF8", "hgnc": "HGNC:3233", "name": "multiple EGF like domains 8", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/megf8" }, { "slug": "mfap5", "symbol": "MFAP5", "hgnc": "HGNC:29673", "name": "microfibril associated protein 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mfap5" }, { "slug": "mia3", "symbol": "MIA3", "hgnc": "HGNC:24008", "name": "MIA SH3 domain ER export factor 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mia3" }, { "slug": "mkks", "symbol": "MKKS", "hgnc": "HGNC:7108", "name": "MKKS centrosomal shuttling protein", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mkks" }, { "slug": "mks1", "symbol": "MKS1", "hgnc": "HGNC:7121", "name": "MKS transition zone complex subunit 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mks1" }, { "slug": "mplkip", "symbol": "MPLKIP", "hgnc": "HGNC:16002", "name": "M-phase specific PLK1 interacting protein", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/mplkip" }, { "slug": "msl2", "symbol": "MSL2", "hgnc": "HGNC:25544", "name": "MSL complex subunit 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/msl2" }, { "slug": "msl3", "symbol": "MSL3", "hgnc": "HGNC:7370", "name": "MSL complex subunit 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/msl3" }, { "slug": "mtm1", "symbol": "MTM1", "hgnc": "HGNC:7448", "name": "myotubularin 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mtm1" }, { "slug": "myh11", "symbol": "MYH11", "hgnc": "HGNC:7569", "name": "myosin heavy chain 11", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/myh11" }, { "slug": "myl11", "symbol": "MYL11", "hgnc": "HGNC:29824", "name": "myosin light chain 11", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/myl11" }, { "slug": "mylk", "symbol": "MYLK", "hgnc": "HGNC:7590", "name": "myosin light chain kinase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mylk" }, { "slug": "nars1", "symbol": "NARS1", "hgnc": "HGNC:7643", "name": "asparaginyl-tRNA synthetase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nars1" }, { "slug": "nphp1", "symbol": "NPHP1", "hgnc": "HGNC:7905", "name": "nephrocystin 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nphp1" }, { "slug": "nr2f1", "symbol": "NR2F1", "hgnc": "HGNC:7975", "name": "nuclear receptor subfamily 2 group F member 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nr2f1" }, { "slug": "odc1", "symbol": "ODC1", "hgnc": "HGNC:8109", "name": "ornithine decarboxylase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/odc1" }, { "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": "pik3c2a", "symbol": "PIK3C2A", "hgnc": "HGNC:8971", "name": "phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pik3c2a" }, { "slug": "prkg1", "symbol": "PRKG1", "hgnc": "HGNC:9414", "name": "protein kinase cGMP-dependent 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/prkg1" }, { "slug": "prmt7", "symbol": "PRMT7", "hgnc": "HGNC:25557", "name": "protein arginine methyltransferase 7", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/prmt7" }, { "slug": "rab34", "symbol": "RAB34", "hgnc": "HGNC:16519", "name": "RAB34, member RAS oncogene family", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rab34" }, { "slug": "rap1b", "symbol": "RAP1B", "hgnc": "HGNC:9857", "name": "RAP1B, member of RAS oncogene family", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rap1b" }, { "slug": "rnf113a", "symbol": "RNF113A", "hgnc": "HGNC:12974", "name": "ring finger protein 113A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rnf113a" }, { "slug": "rnu4-2", "symbol": "RNU4-2", "hgnc": "HGNC:10193", "name": "RNA, U4 small nuclear 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rnu4-2" }, { "slug": "rspo2", "symbol": "RSPO2", "hgnc": "HGNC:28583", "name": "R-spondin 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rspo2" }, { "slug": "rttn", "symbol": "RTTN", "hgnc": "HGNC:18654", "name": "rotatin", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rttn" }, { "slug": "scaper", "symbol": "SCAPER", "hgnc": "HGNC:13081", "name": "S-phase cyclin A associated protein in the ER", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/scaper" }, { "slug": "sclt1", "symbol": "SCLT1", "hgnc": "HGNC:26406", "name": "sodium channel and clathrin linker 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sclt1" }, { "slug": "scn4a", "symbol": "SCN4A", "hgnc": "HGNC:10591", "name": "sodium voltage-gated channel alpha subunit 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/scn4a" }, { "slug": "sdccag8", "symbol": "SDCCAG8", "hgnc": "HGNC:10671", "name": "SHH signaling and ciliogenesis regulator SDCCAG8", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sdccag8" }, { "slug": "sec61a1", "symbol": "SEC61A1", "hgnc": "HGNC:18276", "name": "SEC61 translocon subunit alpha 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sec61a1" }, { "slug": "setbp1", "symbol": "SETBP1", "hgnc": "HGNC:15573", "name": "SET binding protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/setbp1" }, { "slug": "sgsm3", "symbol": "SGSM3", "hgnc": "HGNC:25228", "name": "small G protein signaling modulator 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sgsm3" }, { "slug": "sim1", "symbol": "SIM1", "hgnc": "HGNC:10882", "name": "SIM bHLH transcription factor 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sim1" }, { "slug": "six1", "symbol": "SIX1", "hgnc": "HGNC:10887", "name": "SIX homeobox 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/six1" }, { "slug": "six5", "symbol": "SIX5", "hgnc": "HGNC:10891", "name": "SIX homeobox 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/six5" }, { "slug": "slc4a10", "symbol": "SLC4A10", "hgnc": "HGNC:13811", "name": "solute carrier family 4 member 10", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/slc4a10" }, { "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": 3, "url": "https://dantelabs.com/genes/smad3" }, { "slug": "smad4", "symbol": "SMAD4", "hgnc": "HGNC:6770", "name": "SMAD family member 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/smad4" }, { "slug": "snrpn", "symbol": "SNRPN", "hgnc": "HGNC:11164", "name": "small nuclear ribonucleoprotein polypeptide N", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/snrpn" }, { "slug": "spen", "symbol": "SPEN", "hgnc": "HGNC:17575", "name": "spen family transcriptional repressor", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/spen" }, { "slug": "tars1", "symbol": "TARS1", "hgnc": "HGNC:11572", "name": "threonyl-tRNA synthetase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tars1" }, { "slug": "tbcb", "symbol": "TBCB", "hgnc": "HGNC:1989", "name": "tubulin folding cofactor B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tbcb" }, { "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": "trim32", "symbol": "TRIM32", "hgnc": "HGNC:16380", "name": "tripartite motif containing 32", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/trim32" }, { "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": "trip11", "symbol": "TRIP11", "hgnc": "HGNC:12305", "name": "thyroid hormone receptor interactor 11", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/trip11" }, { "slug": "ttc8", "symbol": "TTC8", "hgnc": "HGNC:20087", "name": "tetratricopeptide repeat domain 8", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ttc8" }, { "slug": "wbp11", "symbol": "WBP11", "hgnc": "HGNC:16461", "name": "WW domain binding protein 11", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/wbp11" }, { "slug": "wdpcp", "symbol": "WDPCP", "hgnc": "HGNC:28027", "name": "WD repeat containing planar cell polarity effector", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/wdpcp" }, { "slug": "wdr11", "symbol": "WDR11", "hgnc": "HGNC:13831", "name": "WD repeat domain 11", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/wdr11" }, { "slug": "wdr83os", "symbol": "WDR83OS", "hgnc": "HGNC:30203", "name": "WD repeat domain 83 opposite strand", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/wdr83os" }, { "slug": "wsb2", "symbol": "WSB2", "hgnc": "HGNC:19222", "name": "WD repeat and SOCS box containing 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/wsb2" }, { "slug": "zfx", "symbol": "ZFX", "hgnc": "HGNC:12869", "name": "zinc finger protein X-linked", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/zfx" }, { "slug": "znf699", "symbol": "ZNF699", "hgnc": "HGNC:24750", "name": "zinc finger protein 699", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/znf699" }, { "slug": "foxf1", "symbol": "FOXF1", "hgnc": "HGNC:3809", "name": "forkhead box F1", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/foxf1" }, { "slug": "acta1", "symbol": "ACTA1", "hgnc": "HGNC:129", "name": "actin alpha 1, skeletal muscle", "diseases": 1, "url": "https://dantelabs.com/genes/acta1" }, { "slug": "arcn1", "symbol": "ARCN1", "hgnc": "HGNC:649", "name": "archain 1 coat protein complex I subunit delta", "diseases": 1, "url": "https://dantelabs.com/genes/arcn1" }, { "slug": "asxl2", "symbol": "ASXL2", "hgnc": "HGNC:23805", "name": "ASXL transcriptional regulator 2", "diseases": 1, "url": "https://dantelabs.com/genes/asxl2" }, { "slug": "atp6v1a", "symbol": "ATP6V1A", "hgnc": "HGNC:851", "name": "ATPase H+ transporting V1 subunit A", "diseases": 1, "url": "https://dantelabs.com/genes/atp6v1a" }, { "slug": "bmp4", "symbol": "BMP4", "hgnc": "HGNC:1071", "name": "bone morphogenetic protein 4", "diseases": 1, "url": "https://dantelabs.com/genes/bmp4" }, { "slug": "cep135", "symbol": "CEP135", "hgnc": "HGNC:29086", "name": "centrosomal protein 135", "diseases": 1, "url": "https://dantelabs.com/genes/cep135" }, { "slug": "cep152", "symbol": "CEP152", "hgnc": "HGNC:29298", "name": "centrosomal protein 152", "diseases": 1, "url": "https://dantelabs.com/genes/cep152" }, { "slug": "col3a1", "symbol": "COL3A1", "hgnc": "HGNC:2201", "name": "collagen type III alpha 1 chain", "diseases": 1, "url": "https://dantelabs.com/genes/col3a1" }, { "slug": "crebbp", "symbol": "CREBBP", "hgnc": "HGNC:2348", "name": "CREB binding lysine acetyltransferase", "diseases": 1, "url": "https://dantelabs.com/genes/crebbp" }, { "slug": "crlf1", "symbol": "CRLF1", "hgnc": "HGNC:2364", "name": "cytokine receptor like factor 1", "diseases": 1, "url": "https://dantelabs.com/genes/crlf1" }, { "slug": "crppa", "symbol": "CRPPA", "hgnc": "HGNC:37276", "name": "CDP-L-ribitol pyrophosphorylase A", "diseases": 1, "url": "https://dantelabs.com/genes/crppa" }, { "slug": "dgcr2", "symbol": "DGCR2", "hgnc": "HGNC:2845", "name": "DiGeorge syndrome critical region gene 2", "diseases": 1, "url": "https://dantelabs.com/genes/dgcr2" }, { "slug": "dgcr6", "symbol": "DGCR6", "hgnc": "HGNC:2846", "name": "DiGeorge syndrome critical region gene 6", "diseases": 1, "url": "https://dantelabs.com/genes/dgcr6" }, { "slug": "dgcr8", "symbol": "DGCR8", "hgnc": "HGNC:2847", "name": "DGCR8 microprocessor complex subunit", "diseases": 1, "url": "https://dantelabs.com/genes/dgcr8" }, { "slug": "ess2", "symbol": "ESS2", "hgnc": "HGNC:16817", "name": "ess-2 spliceosome associated protein", "diseases": 1, "url": "https://dantelabs.com/genes/ess2" }, { "slug": "gba1", "symbol": "GBA1", "hgnc": "HGNC:4177", "name": "glucosylceramidase beta 1", "diseases": 1, "url": "https://dantelabs.com/genes/gba1" }, { "slug": "gle1", "symbol": "GLE1", "hgnc": "HGNC:4315", "name": "GLE1 RNA export mediator", "diseases": 1, "url": "https://dantelabs.com/genes/gle1" }, { "slug": "hdac8", "symbol": "HDAC8", "hgnc": "HGNC:13315", "name": "histone deacetylase 8", "diseases": 1, "url": "https://dantelabs.com/genes/hdac8" }, { "slug": "igf1r", "symbol": "IGF1R", "hgnc": "HGNC:5465", "name": "insulin like growth factor 1 receptor", "diseases": 1, "url": "https://dantelabs.com/genes/igf1r" }, { "slug": "itga8", "symbol": "ITGA8", "hgnc": "HGNC:6144", "name": "integrin subunit alpha 8", "diseases": 1, "url": "https://dantelabs.com/genes/itga8" }, { "slug": "magel2", "symbol": "MAGEL2", "hgnc": "HGNC:6814", "name": "MAGE family member L2", "diseases": 1, "url": "https://dantelabs.com/genes/magel2" }, { "slug": "mbd5", "symbol": "MBD5", "hgnc": "HGNC:20444", "name": "methyl-CpG binding domain protein 5", "diseases": 1, "url": "https://dantelabs.com/genes/mbd5" }, { "slug": "mgat2", "symbol": "MGAT2", "hgnc": "HGNC:7045", "name": "alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase", "diseases": 1, "url": "https://dantelabs.com/genes/mgat2" }, { "slug": "mrps22", "symbol": "MRPS22", "hgnc": "HGNC:14508", "name": "mitochondrial ribosomal protein S22", "diseases": 1, "url": "https://dantelabs.com/genes/mrps22" }, { "slug": "nsdhl", "symbol": "NSDHL", "hgnc": "HGNC:13398", "name": "NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL", "diseases": 1, "url": "https://dantelabs.com/genes/nsdhl" }, { "slug": "pus7", "symbol": "PUS7", "hgnc": "HGNC:26033", "name": "pseudouridine synthase 7", "diseases": 1, "url": "https://dantelabs.com/genes/pus7" }, { "slug": "rarb", "symbol": "RARB", "hgnc": "HGNC:9865", "name": "retinoic acid receptor beta", "diseases": 1, "url": "https://dantelabs.com/genes/rarb" }, { "slug": "rbbp8", "symbol": "RBBP8", "hgnc": "HGNC:9891", "name": "RB binding protein 8, endonuclease", "diseases": 1, "url": "https://dantelabs.com/genes/rbbp8" }, { "slug": "rpl5", "symbol": "RPL5", "hgnc": "HGNC:10360", "name": "ribosomal protein L5", "diseases": 1, "url": "https://dantelabs.com/genes/rpl5" }, { "slug": "rps19", "symbol": "RPS19", "hgnc": "HGNC:10402", "name": "ribosomal protein S19", "diseases": 1, "url": "https://dantelabs.com/genes/rps19" }, { "slug": "sf3b4", "symbol": "SF3B4", "hgnc": "HGNC:10771", "name": "splicing factor 3b subunit 4", "diseases": 1, "url": "https://dantelabs.com/genes/sf3b4" }, { "slug": "slc25a24", "symbol": "SLC25A24", "hgnc": "HGNC:20662", "name": "solute carrier family 25 member 24", "diseases": 1, "url": "https://dantelabs.com/genes/slc25a24" }, { "slug": "slc6a9", "symbol": "SLC6A9", "hgnc": "HGNC:11056", "name": "solute carrier family 6 member 9", "diseases": 1, "url": "https://dantelabs.com/genes/slc6a9" }, { "slug": "smoc1", "symbol": "SMOC1", "hgnc": "HGNC:20318", "name": "SPARC related modular calcium binding 1", "diseases": 1, "url": "https://dantelabs.com/genes/smoc1" }, { "slug": "srcap", "symbol": "SRCAP", "hgnc": "HGNC:16974", "name": "Snf2 related CREBBP activator protein", "diseases": 1, "url": "https://dantelabs.com/genes/srcap" }, { "slug": "tbx1", "symbol": "TBX1", "hgnc": "HGNC:11592", "name": "T-box transcription factor 1", "diseases": 1, "url": "https://dantelabs.com/genes/tbx1" }, { "slug": "tnpo2", "symbol": "TNPO2", "hgnc": "HGNC:19998", "name": "transportin 2", "diseases": 1, "url": "https://dantelabs.com/genes/tnpo2" }, { "slug": "tpm2", "symbol": "TPM2", "hgnc": "HGNC:12011", "name": "tropomyosin 2", "diseases": 1, "url": "https://dantelabs.com/genes/tpm2" }, { "slug": "wdr35", "symbol": "WDR35", "hgnc": "HGNC:29250", "name": "WD repeat domain 35", "diseases": 1, "url": "https://dantelabs.com/genes/wdr35" }, { "slug": "wnk3", "symbol": "WNK3", "hgnc": "HGNC:14543", "name": "WNK lysine deficient protein kinase 3", "diseases": 1, "url": "https://dantelabs.com/genes/wnk3" }, { "slug": "zbtb24", "symbol": "ZBTB24", "hgnc": "HGNC:21143", "name": "zinc finger and BTB domain containing 24", "diseases": 1, "url": "https://dantelabs.com/genes/zbtb24" }, { "slug": "zc4h2", "symbol": "ZC4H2", "hgnc": "HGNC:24931", "name": "zinc finger C4H2-type containing", "diseases": 1, "url": "https://dantelabs.com/genes/zc4h2" }, { "slug": "znhit3", "symbol": "ZNHIT3", "hgnc": "HGNC:12309", "name": "zinc finger HIT-type containing 3", "diseases": 1, "url": "https://dantelabs.com/genes/znhit3" } ] } }