{ "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion", "trait": { "bundleId": "2026.10.19-9814e911", "release": "2026-09-01", "slug": "thin-upper-lip-vermilion", "id": "HP:0000219", "name": "Thin red part of the upper lip", "label": "Thin upper lip vermilion", "definition": "Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).", "synonyms": [ "Thin upper lip", "Decreased height of upper lip vermilion", "Decreased volume of upper lip", "Decreased volume of upper lip vermilion", "Thin vermilion border of upper lip" ], "systems": [ { "slug": "abnormality-of-head-or-neck", "name": "Abnormality of head or neck", "url": "https://dantelabs.com/traits/abnormality-of-head-or-neck" } ], "broader": [ { "slug": "abnormality-of-upper-lip-vermillion", "name": "Abnormality of the red part of the upper lip", "url": "https://dantelabs.com/traits/abnormality-of-upper-lip-vermillion" }, { "slug": "thin-vermilion-border", "name": "Decreased volume of lip", "url": "https://dantelabs.com/traits/thin-vermilion-border" } ], "narrower": [], "genes": [ { "slug": "abcc9", "symbol": "ABCC9", "hgnc": "HGNC:60", "name": "ATP binding cassette subfamily C member 9", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/abcc9" }, { "slug": "actb", "symbol": "ACTB", "hgnc": "HGNC:132", "name": "actin beta", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/actb" }, { "slug": "adamtsl2", "symbol": "ADAMTSL2", "hgnc": "HGNC:14631", "name": "ADAMTS like 2", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/adamtsl2" }, { "slug": "adsl", "symbol": "ADSL", "hgnc": "HGNC:291", "name": "adenylosuccinate lyase", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/adsl" }, { "slug": "ammecr1", "symbol": "AMMECR1", "hgnc": "HGNC:467", "name": "AMMECR nuclear protein 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ammecr1" }, { "slug": "amotl1", "symbol": "AMOTL1", "hgnc": "HGNC:17811", "name": "angiomotin like 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/amotl1" }, { "slug": "ap3b1", "symbol": "AP3B1", "hgnc": "HGNC:566", "name": "adaptor related protein complex 3 subunit beta 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ap3b1" }, { "slug": "arid2", "symbol": "ARID2", "hgnc": "HGNC:18037", "name": "AT-rich interaction domain 2", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/arid2" }, { "slug": "arx", "symbol": "ARX", "hgnc": "HGNC:18060", "name": "aristaless related homeobox", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/arx" }, { "slug": "atic", "symbol": "ATIC", "hgnc": "HGNC:794", "name": "5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/atic" }, { "slug": "atp9a", "symbol": "ATP9A", "hgnc": "HGNC:13540", "name": "ATPase phospholipid transporting 9A", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/atp9a" }, { "slug": "cacna1c", "symbol": "CACNA1C", "hgnc": "HGNC:1390", "name": "calcium voltage-gated channel subunit alpha1 C", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/cacna1c" }, { "slug": "ccnk", "symbol": "CCNK", "hgnc": "HGNC:1596", "name": "cyclin K", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ccnk" }, { "slug": "cdc42", "symbol": "CDC42", "hgnc": "HGNC:1736", "name": "cell division cycle 42", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/cdc42" }, { "slug": "cdh11", "symbol": "CDH11", "hgnc": "HGNC:1750", "name": "cadherin 11", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/cdh11" }, { "slug": "cep295", "symbol": "CEP295", "hgnc": "HGNC:29366", "name": "centrosomal protein 295", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/cep295" }, { "slug": "chst14", "symbol": "CHST14", "hgnc": "HGNC:24464", "name": "carbohydrate sulfotransferase 14", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/chst14" }, { "slug": "clcn3", "symbol": "CLCN3", "hgnc": "HGNC:2021", "name": "Cl-/H+ antiporter 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/clcn3" }, { "slug": "cnot2", "symbol": "CNOT2", "hgnc": "HGNC:7878", "name": "CCR4-NOT transcription complex subunit 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/cnot2" }, { "slug": "cplx1", "symbol": "CPLX1", "hgnc": "HGNC:2309", "name": "complexin 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/cplx1" }, { "slug": "crebbp", "symbol": "CREBBP", "hgnc": "HGNC:2348", "name": "CREB binding lysine acetyltransferase", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/crebbp" }, { "slug": "dcps", "symbol": "DCPS", "hgnc": "HGNC:29812", "name": "decapping enzyme, scavenger", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/dcps" }, { "slug": "dhx9", "symbol": "DHX9", "hgnc": "HGNC:2750", "name": "DExH-box helicase 9", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/dhx9" }, { "slug": "dyrk1a", "symbol": "DYRK1A", "hgnc": "HGNC:3091", "name": "dual specificity tyrosine phosphorylation regulated kinase 1A", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/dyrk1a" }, { "slug": "ep300", "symbol": "EP300", "hgnc": "HGNC:3373", "name": "EP300 lysine acetyltransferase", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/ep300" }, { "slug": "exosc2", "symbol": "EXOSC2", "hgnc": "HGNC:17097", "name": "exosome component 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/exosc2" }, { "slug": "ifih1", "symbol": "IFIH1", "hgnc": "HGNC:18873", "name": "interferon induced with helicase C domain 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ifih1" }, { "slug": "ift140", "symbol": "IFT140", "hgnc": "HGNC:29077", "name": "intraflagellar transport 140", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ift140" }, { "slug": "ints11", "symbol": "INTS11", "hgnc": "HGNC:26052", "name": "integrator complex subunit 11", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ints11" }, { "slug": "kcnj2", "symbol": "KCNJ2", "hgnc": "HGNC:6263", "name": "potassium inwardly rectifying channel subfamily J member 2", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/kcnj2" }, { "slug": "kcnk3", "symbol": "KCNK3", "hgnc": "HGNC:6278", "name": "potassium two pore domain channel subfamily K member 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/kcnk3" }, { "slug": "kcnk4", "symbol": "KCNK4", "hgnc": "HGNC:6279", "name": "potassium two pore domain channel subfamily K member 4", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/kcnk4" }, { "slug": "kdm1a", "symbol": "KDM1A", "hgnc": "HGNC:29079", "name": "lysine demethylase 1A", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/kdm1a" }, { "slug": "meis2", "symbol": "MEIS2", "hgnc": "HGNC:7001", "name": "Meis homeobox 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/meis2" }, { "slug": "mks1", "symbol": "MKS1", "hgnc": "HGNC:7121", "name": "MKS transition zone complex subunit 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/mks1" }, { "slug": "mymx", "symbol": "MYMX", "hgnc": "HGNC:52391", "name": "myomixer, myoblast fusion factor", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/mymx" }, { "slug": "naa80", "symbol": "NAA80", "hgnc": "HGNC:30252", "name": "N-alpha-acetyltransferase 80, NatH catalytic subunit", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/naa80" }, { "slug": "ophn1", "symbol": "OPHN1", "hgnc": "HGNC:8148", "name": "oligophrenin 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ophn1" }, { "slug": "pak3", "symbol": "PAK3", "hgnc": "HGNC:8592", "name": "p21 (RAC1) activated kinase 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pak3" }, { "slug": "pdgfrb", "symbol": "PDGFRB", "hgnc": "HGNC:8804", "name": "platelet derived growth factor receptor beta", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pdgfrb" }, { "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": "pitx2", "symbol": "PITX2", "hgnc": "HGNC:9005", "name": "paired like homeodomain 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pitx2" }, { "slug": "ppfia3", "symbol": "PPFIA3", "hgnc": "HGNC:9247", "name": "PPFI scaffold protein A3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ppfia3" }, { "slug": "ptrh2", "symbol": "PTRH2", "hgnc": "HGNC:24265", "name": "peptidyl-tRNA hydrolase 2", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/ptrh2" }, { "slug": "rad21", "symbol": "RAD21", "hgnc": "HGNC:9811", "name": "RAD21 cohesin complex component", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/rad21" }, { "slug": "rnu2-2", "symbol": "RNU2-2", "hgnc": "HGNC:10152", "name": "RNA, U2 small nuclear 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rnu2-2" }, { "slug": "rnu4atac", "symbol": "RNU4ATAC", "hgnc": "HGNC:34016", "name": "RNA, U4atac small nuclear", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/rnu4atac" }, { "slug": "sec23a", "symbol": "SEC23A", "hgnc": "HGNC:10701", "name": "SEC23 homolog A, COPII component", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/sec23a" }, { "slug": "sh3pxd2b", "symbol": "SH3PXD2B", "hgnc": "HGNC:29242", "name": "SH3 and PX domains 2B", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/sh3pxd2b" }, { "slug": "specc1l", "symbol": "SPECC1L", "hgnc": "HGNC:29022", "name": "sperm antigen with calponin homology and coiled-coil domains 1 like", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/specc1l" }, { "slug": "tbce", "symbol": "TBCE", "hgnc": "HGNC:11582", "name": "tubulin folding cofactor E", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/tbce" }, { "slug": "tm2d3", "symbol": "TM2D3", "hgnc": "HGNC:24128", "name": "TM2 domain containing 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/tm2d3" }, { "slug": "trps1", "symbol": "TRPS1", "hgnc": "HGNC:12340", "name": "transcriptional repressor GATA binding 1", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/trps1" }, { "slug": "ubap2l", "symbol": "UBAP2L", "hgnc": "HGNC:29877", "name": "ubiquitin associated protein 2 like", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ubap2l" }, { "slug": "ube3b", "symbol": "UBE3B", "hgnc": "HGNC:13478", "name": "ubiquitin protein ligase E3B", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ube3b" }, { "slug": "uggt1", "symbol": "UGGT1", "hgnc": "HGNC:15663", "name": "UDP-glucose glycoprotein glucosyltransferase 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/uggt1" }, { "slug": "vps35l", "symbol": "VPS35L", "hgnc": "HGNC:24641", "name": "VPS35 endosomal protein sorting factor like", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/vps35l" }, { "slug": "vps51", "symbol": "VPS51", "hgnc": "HGNC:1172", "name": "VPS51 subunit of GARP complex", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/vps51" }, { "slug": "wdr19", "symbol": "WDR19", "hgnc": "HGNC:18340", "name": "WD repeat domain 19", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/wdr19" }, { "slug": "znf407", "symbol": "ZNF407", "hgnc": "HGNC:19904", "name": "zinc finger protein 407", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/znf407" }, { "slug": "ankle2", "symbol": "ANKLE2", "hgnc": "HGNC:29101", "name": "ankyrin repeat and LEM domain containing 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ankle2" }, { "slug": "aspm", "symbol": "ASPM", "hgnc": "HGNC:19048", "name": "assembly factor for spindle microtubules", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/aspm" }, { "slug": "b3glct", "symbol": "B3GLCT", "hgnc": "HGNC:20207", "name": "beta 3-glucosyltransferase", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/b3glct" }, { "slug": "bcl11a", "symbol": "BCL11A", "hgnc": "HGNC:13221", "name": "BCL11 transcription factor A", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bcl11a" }, { "slug": "bcl11b", "symbol": "BCL11B", "hgnc": "HGNC:13222", "name": "BCL11 transcription factor B", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bcl11b" }, { "slug": "bmp2", "symbol": "BMP2", "hgnc": "HGNC:1069", "name": "bone morphogenetic protein 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bmp2" }, { "slug": "cdk5rap2", "symbol": "CDK5RAP2", "hgnc": "HGNC:18672", "name": "CDK5 regulatory subunit associated protein 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cdk5rap2" }, { "slug": "cdk6", "symbol": "CDK6", "hgnc": "HGNC:1777", "name": "cyclin dependent kinase 6", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cdk6" }, { "slug": "cenpe", "symbol": "CENPE", "hgnc": "HGNC:1856", "name": "centromere protein E", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cenpe" }, { "slug": "cep135", "symbol": "CEP135", "hgnc": "HGNC:29086", "name": "centrosomal protein 135", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cep135" }, { "slug": "cep152", "symbol": "CEP152", "hgnc": "HGNC:29298", "name": "centrosomal protein 152", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cep152" }, { "slug": "champ1", "symbol": "CHAMP1", "hgnc": "HGNC:20311", "name": "chromosome alignment maintaining phosphoprotein 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/champ1" }, { "slug": "cit", "symbol": "CIT", "hgnc": "HGNC:1985", "name": "citron rho-interacting serine/threonine kinase", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cit" }, { "slug": "copb2", "symbol": "COPB2", "hgnc": "HGNC:2232", "name": "coat protein complex I subunit beta 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/copb2" }, { "slug": "cpap", "symbol": "CPAP", "hgnc": "HGNC:17272", "name": "centrosome assembly and centriole elongation protein", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cpap" }, { "slug": "dse", "symbol": "DSE", "hgnc": "HGNC:21144", "name": "dermatan sulfate epimerase", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dse" }, { "slug": "ext1", "symbol": "EXT1", "hgnc": "HGNC:3512", "name": "exostosin glycosyltransferase 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ext1" }, { "slug": "gne", "symbol": "GNE", "hgnc": "HGNC:23657", "name": "glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/gne" }, { "slug": "hdac8", "symbol": "HDAC8", "hgnc": "HGNC:13315", "name": "histone deacetylase 8", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hdac8" }, { "slug": "irf6", "symbol": "IRF6", "hgnc": "HGNC:6121", "name": "interferon regulatory factor 6", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/irf6" }, { "slug": "irx5", "symbol": "IRX5", "hgnc": "HGNC:14361", "name": "iroquois homeobox 5", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/irx5" }, { "slug": "kat6a", "symbol": "KAT6A", "hgnc": "HGNC:13013", "name": "lysine acetyltransferase 6A", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/kat6a" }, { "slug": "kcnma1", "symbol": "KCNMA1", "hgnc": "HGNC:6284", "name": "potassium calcium-activated channel subfamily M alpha 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kcnma1" }, { "slug": "kif14", "symbol": "KIF14", "hgnc": "HGNC:19181", "name": "kinesin family member 14", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kif14" }, { "slug": "knl1", "symbol": "KNL1", "hgnc": "HGNC:24054", "name": "kinetochore scaffold 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/knl1" }, { "slug": "las1l", "symbol": "LAS1L", "hgnc": "HGNC:25726", "name": "LAS1 like ribosome biogenesis factor", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/las1l" }, { "slug": "mcm7", "symbol": "MCM7", "hgnc": "HGNC:6950", "name": "minichromosome maintenance complex component 7", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mcm7" }, { "slug": "mcph1", "symbol": "MCPH1", "hgnc": "HGNC:6954", "name": "microcephalin 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mcph1" }, { "slug": "mettl5", "symbol": "METTL5", "hgnc": "HGNC:25006", "name": "methyltransferase 5, N6-adenosine", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mettl5" }, { "slug": "mfsd2a", "symbol": "MFSD2A", "hgnc": "HGNC:25897", "name": "MFSD2 lysolipid transporter A, lysophospholipid", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mfsd2a" }, { "slug": "ncapd3", "symbol": "NCAPD3", "hgnc": "HGNC:28952", "name": "non-SMC condensin II complex subunit D3", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ncapd3" }, { "slug": "nipbl", "symbol": "NIPBL", "hgnc": "HGNC:28862", "name": "NIPBL cohesin loading factor", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nipbl" }, { "slug": "nog", "symbol": "NOG", "hgnc": "HGNC:7866", "name": "noggin", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nog" }, { "slug": "nup37", "symbol": "NUP37", "hgnc": "HGNC:29929", "name": "nucleoporin 37", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nup37" }, { "slug": "pacs2", "symbol": "PACS2", "hgnc": "HGNC:23794", "name": "phosphofurin acidic cluster sorting protein 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pacs2" }, { "slug": "pdcd6ip", "symbol": "PDCD6IP", "hgnc": "HGNC:8766", "name": "programmed cell death 6 interacting protein", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pdcd6ip" }, { "slug": "phc1", "symbol": "PHC1", "hgnc": "HGNC:3182", "name": "polyhomeotic homolog 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/phc1" }, { "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": "ppm1d", "symbol": "PPM1D", "hgnc": "HGNC:9277", "name": "protein phosphatase, Mg2+/Mn2+ dependent 1D", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ppm1d" }, { "slug": "puf60", "symbol": "PUF60", "hgnc": "HGNC:17042", "name": "poly(U) binding splicing factor 60", "frequency": "very-frequent", "diseases": 3, "url": "https://dantelabs.com/genes/puf60" }, { "slug": "pycr2", "symbol": "PYCR2", "hgnc": "HGNC:30262", "name": "pyrroline-5-carboxylate reductase 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pycr2" }, { "slug": "qrich1", "symbol": "QRICH1", "hgnc": "HGNC:24713", "name": "glutamine rich 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/qrich1" }, { "slug": "rnf135", "symbol": "RNF135", "hgnc": "HGNC:21158", "name": "ring finger protein 135", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rnf135" }, { "slug": "sars1", "symbol": "SARS1", "hgnc": "HGNC:10537", "name": "seryl-tRNA synthetase 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sars1" }, { "slug": "sass6", "symbol": "SASS6", "hgnc": "HGNC:25403", "name": "SAS-6 centriolar assembly protein", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sass6" }, { "slug": "smad4", "symbol": "SMAD4", "hgnc": "HGNC:6770", "name": "SMAD family member 4", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/smad4" }, { "slug": "smarca2", "symbol": "SMARCA2", "hgnc": "HGNC:11098", "name": "SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/smarca2" }, { "slug": "smc3", "symbol": "SMC3", "hgnc": "HGNC:2468", "name": "structural maintenance of chromosomes 3", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/smc3" }, { "slug": "stil", "symbol": "STIL", "hgnc": "HGNC:10879", "name": "STIL centriolar assembly protein", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/stil" }, { "slug": "taf13", "symbol": "TAF13", "hgnc": "HGNC:11546", "name": "TATA-box binding protein associated factor 13", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/taf13" }, { "slug": "top2b", "symbol": "TOP2B", "hgnc": "HGNC:11990", "name": "DNA topoisomerase II beta", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/top2b" }, { "slug": "trappc10", "symbol": "TRAPPC10", "hgnc": "HGNC:11868", "name": "trafficking protein particle complex subunit 10", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/trappc10" }, { "slug": "trappc14", "symbol": "TRAPPC14", "hgnc": "HGNC:25604", "name": "trafficking protein particle complex subunit 14", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/trappc14" }, { "slug": "trappc9", "symbol": "TRAPPC9", "hgnc": "HGNC:30832", "name": "trafficking protein particle complex subunit 9", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/trappc9" }, { "slug": "wars1", "symbol": "WARS1", "hgnc": "HGNC:12729", "name": "tryptophanyl-tRNA synthetase 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/wars1" }, { "slug": "wdr62", "symbol": "WDR62", "hgnc": "HGNC:24502", "name": "WD repeat domain 62", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/wdr62" }, { "slug": "aars1", "symbol": "AARS1", "hgnc": "HGNC:20", "name": "alanyl-tRNA synthetase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/aars1" }, { "slug": "acbd6", "symbol": "ACBD6", "hgnc": "HGNC:23339", "name": "acyl-CoA binding domain containing 6", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/acbd6" }, { "slug": "adnp", "symbol": "ADNP", "hgnc": "HGNC:15766", "name": "activity dependent neuroprotector homeobox", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/adnp" }, { "slug": "ago2", "symbol": "AGO2", "hgnc": "HGNC:3263", "name": "argonaute RISC catalytic component 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ago2" }, { "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": "ankrd11", "symbol": "ANKRD11", "hgnc": "HGNC:21316", "name": "ankyrin repeat domain 11", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ankrd11" }, { "slug": "ankrd17", "symbol": "ANKRD17", "hgnc": "HGNC:23575", "name": "ankyrin repeat domain 17", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ankrd17" }, { "slug": "arid1a", "symbol": "ARID1A", "hgnc": "HGNC:11110", "name": "AT-rich interaction domain 1A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/arid1a" }, { "slug": "arid1b", "symbol": "ARID1B", "hgnc": "HGNC:18040", "name": "AT-rich interaction domain 1B", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/arid1b" }, { "slug": "atp6v1b2", "symbol": "ATP6V1B2", "hgnc": "HGNC:854", "name": "ATPase H+ transporting V1 subunit B2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/atp6v1b2" }, { "slug": "bcr", "symbol": "BCR", "hgnc": "HGNC:1014", "name": "BCR activator of RhoGEF and GTPase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bcr" }, { "slug": "bptf", "symbol": "BPTF", "hgnc": "HGNC:3581", "name": "bromodomain PHD finger transcription factor", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/bptf" }, { "slug": "bub1", "symbol": "BUB1", "hgnc": "HGNC:1148", "name": "BUB1 mitotic checkpoint serine/threonine kinase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bub1" }, { "slug": "casp2", "symbol": "CASP2", "hgnc": "HGNC:1503", "name": "caspase 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/casp2" }, { "slug": "ccnq", "symbol": "CCNQ", "hgnc": "HGNC:28434", "name": "cyclin Q", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ccnq" }, { "slug": "cdh2", "symbol": "CDH2", "hgnc": "HGNC:1759", "name": "cadherin 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cdh2" }, { "slug": "clcn6", "symbol": "CLCN6", "hgnc": "HGNC:2024", "name": "Cl-/H+ antiporter 6", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/clcn6" }, { "slug": "cog1", "symbol": "COG1", "hgnc": "HGNC:6545", "name": "component of oligomeric golgi complex 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/cog1" }, { "slug": "crkl", "symbol": "CRKL", "hgnc": "HGNC:2363", "name": "CRK like proto-oncogene, adaptor protein", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/crkl" }, { "slug": "ctcf", "symbol": "CTCF", "hgnc": "HGNC:13723", "name": "CCCTC-binding factor", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ctcf" }, { "slug": "ddx59", "symbol": "DDX59", "hgnc": "HGNC:25360", "name": "DEAD-box helicase 59", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ddx59" }, { "slug": "dpf2", "symbol": "DPF2", "hgnc": "HGNC:9964", "name": "double PHD fingers 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/dpf2" }, { "slug": "dvl1", "symbol": "DVL1", "hgnc": "HGNC:3084", "name": "dishevelled segment polarity protein 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/dvl1" }, { "slug": "ebf3", "symbol": "EBF3", "hgnc": "HGNC:19087", "name": "EBF transcription factor 3", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ebf3" }, { "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": "eif5a", "symbol": "EIF5A", "hgnc": "HGNC:3300", "name": "eukaryotic translation initiation factor 5A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/eif5a" }, { "slug": "elfn1", "symbol": "ELFN1", "hgnc": "HGNC:33154", "name": "extracellular leucine rich repeat and fibronectin type III domain containing 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/elfn1" }, { "slug": "emilin1", "symbol": "EMILIN1", "hgnc": "HGNC:19880", "name": "elastin microfibril interfacer 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/emilin1" }, { "slug": "exoc2", "symbol": "EXOC2", "hgnc": "HGNC:24968", "name": "exocyst complex component 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/exoc2" }, { "slug": "far1", "symbol": "FAR1", "hgnc": "HGNC:26222", "name": "fatty acyl-CoA reductase 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/far1" }, { "slug": "fastkd5", "symbol": "FASTKD5", "hgnc": "HGNC:25790", "name": "FASTK mitochondrial RNA regulator 5", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fastkd5" }, { "slug": "fbn1", "symbol": "FBN1", "hgnc": "HGNC:3603", "name": "fibrillin 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/fbn1" }, { "slug": "fgfr2", "symbol": "FGFR2", "hgnc": "HGNC:3689", "name": "fibroblast growth factor receptor 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fgfr2" }, { "slug": "fig4", "symbol": "FIG4", "hgnc": "HGNC:16873", "name": "FIG4 phosphoinositide 5-phosphatase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fig4" }, { "slug": "gatad2b", "symbol": "GATAD2B", "hgnc": "HGNC:30778", "name": "GATA zinc finger domain containing 2B", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/gatad2b" }, { "slug": "herc2", "symbol": "HERC2", "hgnc": "HGNC:4868", "name": "HECT and RLD domain containing E3 ubiquitin protein ligase 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/herc2" }, { "slug": "hivep2", "symbol": "HIVEP2", "hgnc": "HGNC:4921", "name": "HIVEP zinc finger 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hivep2" }, { "slug": "hnrnpc", "symbol": "HNRNPC", "hgnc": "HGNC:5035", "name": "heterogeneous nuclear ribonucleoprotein C", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hnrnpc" }, { "slug": "hs2st1", "symbol": "HS2ST1", "hgnc": "HGNC:5193", "name": "heparan sulfate 2-O-sulfotransferase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hs2st1" }, { "slug": "huwe1", "symbol": "HUWE1", "hgnc": "HGNC:30892", "name": "HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/huwe1" }, { "slug": "ift43", "symbol": "IFT43", "hgnc": "HGNC:29669", "name": "intraflagellar transport 43", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ift43" }, { "slug": "kdm3b", "symbol": "KDM3B", "hgnc": "HGNC:1337", "name": "lysine demethylase 3B", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kdm3b" }, { "slug": "kdm6a", "symbol": "KDM6A", "hgnc": "HGNC:12637", "name": "lysine demethylase 6A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kdm6a" }, { "slug": "kmt2a", "symbol": "KMT2A", "hgnc": "HGNC:7132", "name": "lysine methyltransferase 2A", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/kmt2a" }, { "slug": "kmt2d", "symbol": "KMT2D", "hgnc": "HGNC:7133", "name": "lysine methyltransferase 2D", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/kmt2d" }, { "slug": "ltbp3", "symbol": "LTBP3", "hgnc": "HGNC:6716", "name": "latent transforming growth factor beta binding protein 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ltbp3" }, { "slug": "maf", "symbol": "MAF", "hgnc": "HGNC:6776", "name": "MAF bZIP transcription factor", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/maf" }, { "slug": "magel2", "symbol": "MAGEL2", "hgnc": "HGNC:6814", "name": "MAGE family member L2", "frequency": "frequent", "diseases": 3, "url": "https://dantelabs.com/genes/magel2" }, { "slug": "man1b1", "symbol": "MAN1B1", "hgnc": "HGNC:6823", "name": "mannosidase alpha class 1B member 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/man1b1" }, { "slug": "mapk1", "symbol": "MAPK1", "hgnc": "HGNC:6871", "name": "mitogen-activated protein kinase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mapk1" }, { "slug": "mau2", "symbol": "MAU2", "hgnc": "HGNC:29140", "name": "MAU2 sister chromatid cohesion factor", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mau2" }, { "slug": "mctp2", "symbol": "MCTP2", "hgnc": "HGNC:25636", "name": "multiple C2 and transmembrane domain containing 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mctp2" }, { "slug": "mkrn3", "symbol": "MKRN3", "hgnc": "HGNC:7114", "name": "makorin ring finger protein 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mkrn3" }, { "slug": "myo18b", "symbol": "MYO18B", "hgnc": "HGNC:18150", "name": "myosin XVIIIB", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/myo18b" }, { "slug": "npap1", "symbol": "NPAP1", "hgnc": "HGNC:1190", "name": "nuclear pore associated protein 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/npap1" }, { "slug": "ogt", "symbol": "OGT", "hgnc": "HGNC:8127", "name": "O-linked N-acetylglucosamine (GlcNAc) transferase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ogt" }, { "slug": "otud6b", "symbol": "OTUD6B", "hgnc": "HGNC:24281", "name": "OTU deubiquitinase 6B", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/otud6b" }, { "slug": "pan2", "symbol": "PAN2", "hgnc": "HGNC:20074", "name": "poly(A) specific ribonuclease subunit PAN2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pan2" }, { "slug": "pcgf2", "symbol": "PCGF2", "hgnc": "HGNC:12929", "name": "polycomb group ring finger 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pcgf2" }, { "slug": "pgm2l1", "symbol": "PGM2L1", "hgnc": "HGNC:20898", "name": "phosphoglucomutase 2 like 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pgm2l1" }, { "slug": "pigu", "symbol": "PIGU", "hgnc": "HGNC:15791", "name": "phosphatidylinositol glycan anchor biosynthesis class U", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pigu" }, { "slug": "pigv", "symbol": "PIGV", "hgnc": "HGNC:26031", "name": "phosphatidylinositol glycan anchor biosynthesis class V", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pigv" }, { "slug": "plpbp", "symbol": "PLPBP", "hgnc": "HGNC:9457", "name": "pyridoxal phosphate binding protein", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/plpbp" }, { "slug": "pmm2", "symbol": "PMM2", "hgnc": "HGNC:9115", "name": "phosphomannomutase 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/pmm2" }, { "slug": "pogz", "symbol": "POGZ", "hgnc": "HGNC:18801", "name": "pogo transposable element derived with ZNF domain", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/pogz" }, { "slug": "ppp1cb", "symbol": "PPP1CB", "hgnc": "HGNC:9282", "name": "protein phosphatase 1 catalytic subunit beta", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ppp1cb" }, { "slug": "psmd12", "symbol": "PSMD12", "hgnc": "HGNC:9557", "name": "proteasome 26S subunit, non-ATPase 12", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/psmd12" }, { "slug": "pwar1", "symbol": "PWAR1", "hgnc": "HGNC:30089", "name": "Prader Willi/Angelman region RNA 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pwar1" }, { "slug": "pwrn1", "symbol": "PWRN1", "hgnc": "HGNC:33235", "name": "Prader-Willi region non-protein coding RNA 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pwrn1" }, { "slug": "ror2", "symbol": "ROR2", "hgnc": "HGNC:10257", "name": "ROR family WNT receptor 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ror2" }, { "slug": "rpl10", "symbol": "RPL10", "hgnc": "HGNC:10298", "name": "ribosomal protein L10", "frequency": "frequent", "diseases": 3, "url": "https://dantelabs.com/genes/rpl10" }, { "slug": "satb2", "symbol": "SATB2", "hgnc": "HGNC:21637", "name": "SATB homeobox 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/satb2" }, { "slug": "sel1l", "symbol": "SEL1L", "hgnc": "HGNC:10717", "name": "SEL1L adaptor subunit of SYVN1 ubiquitin ligase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sel1l" }, { "slug": "setd5", "symbol": "SETD5", "hgnc": "HGNC:25566", "name": "SET domain containing 5", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/setd5" }, { "slug": "smarca4", "symbol": "SMARCA4", "hgnc": "HGNC:11100", "name": "SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/smarca4" }, { "slug": "smarcb1", "symbol": "SMARCB1", "hgnc": "HGNC:11103", "name": "SWI/SNF related BAF chromatin remodeling complex subunit B1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/smarcb1" }, { "slug": "smarcc2", "symbol": "SMARCC2", "hgnc": "HGNC:11105", "name": "SWI/SNF related BAF chromatin remodeling complex subunit C2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/smarcc2" }, { "slug": "smarcd1", "symbol": "SMARCD1", "hgnc": "HGNC:11106", "name": "SWI/SNF related BAF chromatin remodeling complex subunit D1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/smarcd1" }, { "slug": "smarce1", "symbol": "SMARCE1", "hgnc": "HGNC:11109", "name": "SWI/SNF related BAF chromatin remodeling complex subunit E1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/smarce1" }, { "slug": "snord115-1", "symbol": "SNORD115-1", "hgnc": "HGNC:33020", "name": "small nucleolar RNA, C/D box 115-1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/snord115-1" }, { "slug": "snord116-1", "symbol": "SNORD116-1", "hgnc": "HGNC:33067", "name": "small nucleolar RNA, C/D box 116-1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/snord116-1" }, { "slug": "snrpn", "symbol": "SNRPN", "hgnc": "HGNC:11164", "name": "small nuclear ribonucleoprotein polypeptide N", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/snrpn" }, { "slug": "sox11", "symbol": "SOX11", "hgnc": "HGNC:11191", "name": "SRY-box transcription factor 11", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sox11" }, { "slug": "sox4", "symbol": "SOX4", "hgnc": "HGNC:11200", "name": "SRY-box transcription factor 4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sox4" }, { "slug": "srcap", "symbol": "SRCAP", "hgnc": "HGNC:16974", "name": "Snf2 related CREBBP activator protein", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/srcap" }, { "slug": "srrm2", "symbol": "SRRM2", "hgnc": "HGNC:16639", "name": "serine/arginine repetitive matrix 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/srrm2" }, { "slug": "stt3a", "symbol": "STT3A", "hgnc": "HGNC:6172", "name": "STT3 oligosaccharyltransferase complex catalytic subunit A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/stt3a" }, { "slug": "taf1", "symbol": "TAF1", "hgnc": "HGNC:11535", "name": "TATA-box binding protein associated factor 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/taf1" }, { "slug": "tasp1", "symbol": "TASP1", "hgnc": "HGNC:15859", "name": "taspase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tasp1" }, { "slug": "tbc1d24", "symbol": "TBC1D24", "hgnc": "HGNC:29203", "name": "TBC1 domain family member 24", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/tbc1d24" }, { "slug": "tlk2", "symbol": "TLK2", "hgnc": "HGNC:11842", "name": "tousled like kinase 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tlk2" }, { "slug": "tmem94", "symbol": "TMEM94", "hgnc": "HGNC:28983", "name": "transmembrane protein 94", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tmem94" }, { "slug": "tpr", "symbol": "TPR", "hgnc": "HGNC:12017", "name": "translocated promoter region, nuclear basket protein", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tpr" }, { "slug": "ttc5", "symbol": "TTC5", "hgnc": "HGNC:19274", "name": "tetratricopeptide repeat domain 5", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ttc5" }, { "slug": "washc4", "symbol": "WASHC4", "hgnc": "HGNC:29174", "name": "WASH complex subunit 4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/washc4" }, { "slug": "zfx", "symbol": "ZFX", "hgnc": "HGNC:12869", "name": "zinc finger protein X-linked", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/zfx" }, { "slug": "adarb1", "symbol": "ADARB1", "hgnc": "HGNC:226", "name": "adenosine deaminase RNA specific B1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/adarb1" }, { "slug": "adgrg6", "symbol": "ADGRG6", "hgnc": "HGNC:13841", "name": "adhesion G protein-coupled receptor G6", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/adgrg6" }, { "slug": "aff3", "symbol": "AFF3", "hgnc": "HGNC:6473", "name": "ALF transcription elongation factor 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/aff3" }, { "slug": "aff4", "symbol": "AFF4", "hgnc": "HGNC:17869", "name": "ALF transcription elongation factor 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/aff4" }, { "slug": "agr2", "symbol": "AGR2", "hgnc": "HGNC:328", "name": "anterior gradient 2, protein disulphide isomerase family member", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/agr2" }, { "slug": "alg12", "symbol": "ALG12", "hgnc": "HGNC:19358", "name": "ALG12 alpha-1,6-mannosyltransferase", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/alg12" }, { "slug": "alg9", "symbol": "ALG9", "hgnc": "HGNC:15672", "name": "ALG9 alpha-1,2-mannosyltransferase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/alg9" }, { "slug": "ap2m1", "symbol": "AP2M1", "hgnc": "HGNC:564", "name": "adaptor related protein complex 2 subunit mu 1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/ap2m1" }, { "slug": "armc9", "symbol": "ARMC9", "hgnc": "HGNC:20730", "name": "armadillo repeat containing 9", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/armc9" }, { "slug": "ascc3", "symbol": "ASCC3", "hgnc": "HGNC:18697", "name": "activating signal cointegrator 1 complex subunit 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ascc3" }, { "slug": "asxl2", "symbol": "ASXL2", "hgnc": "HGNC:23805", "name": "ASXL transcriptional regulator 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/asxl2" }, { "slug": "asxl3", "symbol": "ASXL3", "hgnc": "HGNC:29357", "name": "ASXL transcriptional regulator 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/asxl3" }, { "slug": "atxn7l3", "symbol": "ATXN7L3", "hgnc": "HGNC:25416", "name": "ataxin 7 like 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/atxn7l3" }, { "slug": "b4galt1", "symbol": "B4GALT1", "hgnc": "HGNC:924", "name": "beta-1,4-galactosyltransferase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/b4galt1" }, { "slug": "bckdk", "symbol": "BCKDK", "hgnc": "HGNC:16902", "name": "branched chain keto acid dehydrogenase kinase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/bckdk" }, { "slug": "caprin1", "symbol": "CAPRIN1", "hgnc": "HGNC:6743", "name": "cell cycle associated protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/caprin1" }, { "slug": "cdc42bpb", "symbol": "CDC42BPB", "hgnc": "HGNC:1738", "name": "CDC42 binding protein kinase beta", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cdc42bpb" }, { "slug": "cdk13", "symbol": "CDK13", "hgnc": "HGNC:1733", "name": "cyclin dependent kinase 13", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cdk13" }, { "slug": "csnk2a1", "symbol": "CSNK2A1", "hgnc": "HGNC:2457", "name": "casein kinase 2 alpha 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/csnk2a1" }, { "slug": "ctnnb1", "symbol": "CTNNB1", "hgnc": "HGNC:2514", "name": "catenin beta 1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/ctnnb1" }, { "slug": "cux1", "symbol": "CUX1", "hgnc": "HGNC:2557", "name": "cut like homeobox 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cux1" }, { "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": "dhps", "symbol": "DHPS", "hgnc": "HGNC:2869", "name": "deoxyhypusine synthase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dhps" }, { "slug": "dpm2", "symbol": "DPM2", "hgnc": "HGNC:3006", "name": "dolichyl-phosphate mannosyltransferase subunit 2, regulatory", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/dpm2" }, { "slug": "eefsec", "symbol": "EEFSEC", "hgnc": "HGNC:24614", "name": "eukaryotic elongation factor, selenocysteine-tRNA specific", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/eefsec" }, { "slug": "fbxo11", "symbol": "FBXO11", "hgnc": "HGNC:13590", "name": "F-box protein 11", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fbxo11" }, { "slug": "gad1", "symbol": "GAD1", "hgnc": "HGNC:4092", "name": "glutamate decarboxylase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gad1" }, { "slug": "gja5", "symbol": "GJA5", "hgnc": "HGNC:4279", "name": "gap junction protein alpha 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gja5" }, { "slug": "gja8", "symbol": "GJA8", "hgnc": "HGNC:4281", "name": "gap junction protein alpha 8", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gja8" }, { "slug": "gnai1", "symbol": "GNAI1", "hgnc": "HGNC:4384", "name": "G protein subunit alpha i1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gnai1" }, { "slug": "gnb2", "symbol": "GNB2", "hgnc": "HGNC:4398", "name": "G protein subunit beta 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gnb2" }, { "slug": "h4c5", "symbol": "H4C5", "hgnc": "HGNC:4790", "name": "H4 clustered histone 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/h4c5" }, { "slug": "hk1", "symbol": "HK1", "hgnc": "HGNC:4922", "name": "hexokinase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/hk1" }, { "slug": "katnb1", "symbol": "KATNB1", "hgnc": "HGNC:6217", "name": "katanin regulatory subunit B1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/katnb1" }, { "slug": "kcnj5", "symbol": "KCNJ5", "hgnc": "HGNC:6266", "name": "potassium inwardly rectifying channel subfamily J member 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kcnj5" }, { "slug": "kdm5c", "symbol": "KDM5C", "hgnc": "HGNC:11114", "name": "lysine demethylase 5C", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kdm5c" }, { "slug": "kif15", "symbol": "KIF15", "hgnc": "HGNC:17273", "name": "kinesin family member 15", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kif15" }, { "slug": "klhl20", "symbol": "KLHL20", "hgnc": "HGNC:25056", "name": "kelch like family member 20", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/klhl20" }, { "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": "med12", "symbol": "MED12", "hgnc": "HGNC:11957", "name": "mediator complex subunit 12", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/med12" }, { "slug": "med12l", "symbol": "MED12L", "hgnc": "HGNC:16050", "name": "mediator complex subunit 12L", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/med12l" }, { "slug": "mef2c", "symbol": "MEF2C", "hgnc": "HGNC:6996", "name": "myocyte enhancer factor 2C", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mef2c" }, { "slug": "mpc1", "symbol": "MPC1", "hgnc": "HGNC:21606", "name": "mitochondrial pyruvate carrier 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mpc1" }, { "slug": "ndn", "symbol": "NDN", "hgnc": "HGNC:7675", "name": "necdin, MAGE family member", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ndn" }, { "slug": "nono", "symbol": "NONO", "hgnc": "HGNC:7871", "name": "non-POU domain containing octamer binding", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nono" }, { "slug": "oca2", "symbol": "OCA2", "hgnc": "HGNC:8101", "name": "OCA2 melanosomal transmembrane protein", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/oca2" }, { "slug": "ocrl", "symbol": "OCRL", "hgnc": "HGNC:8108", "name": "OCRL inositol polyphosphate-5-phosphatase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ocrl" }, { "slug": "odc1", "symbol": "ODC1", "hgnc": "HGNC:8109", "name": "ornithine decarboxylase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/odc1" }, { "slug": "pacs1", "symbol": "PACS1", "hgnc": "HGNC:30032", "name": "phosphofurin acidic cluster sorting protein 1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/pacs1" }, { "slug": "pde4d", "symbol": "PDE4D", "hgnc": "HGNC:8783", "name": "phosphodiesterase 4D", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pde4d" }, { "slug": "pigg", "symbol": "PIGG", "hgnc": "HGNC:25985", "name": "phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pigg" }, { "slug": "pign", "symbol": "PIGN", "hgnc": "HGNC:8967", "name": "phosphatidylinositol glycan anchor biosynthesis class N", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pign" }, { "slug": "ppp1r15b", "symbol": "PPP1R15B", "hgnc": "HGNC:14951", "name": "protein phosphatase 1 regulatory subunit 15B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ppp1r15b" }, { "slug": "prkar1b", "symbol": "PRKAR1B", "hgnc": "HGNC:9390", "name": "protein kinase cAMP-dependent type I regulatory subunit beta", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/prkar1b" }, { "slug": "prkdc", "symbol": "PRKDC", "hgnc": "HGNC:9413", "name": "protein kinase, DNA-activated, catalytic subunit", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/prkdc" }, { "slug": "pura", "symbol": "PURA", "hgnc": "HGNC:9701", "name": "purine rich element binding protein A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pura" }, { "slug": "rai1", "symbol": "RAI1", "hgnc": "HGNC:9834", "name": "retinoic acid induced 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rai1" }, { "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": "rfx7", "symbol": "RFX7", "hgnc": "HGNC:25777", "name": "regulatory factor X7", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rfx7" }, { "slug": "rhobtb2", "symbol": "RHOBTB2", "hgnc": "HGNC:18756", "name": "Rho related BTB domain containing 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rhobtb2" }, { "slug": "setbp1", "symbol": "SETBP1", "hgnc": "HGNC:15573", "name": "SET binding protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/setbp1" }, { "slug": "shmt2", "symbol": "SHMT2", "hgnc": "HGNC:10852", "name": "serine hydroxymethyltransferase 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/shmt2" }, { "slug": "sim1", "symbol": "SIM1", "hgnc": "HGNC:10882", "name": "SIM bHLH transcription factor 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sim1" }, { "slug": "sin3a", "symbol": "SIN3A", "hgnc": "HGNC:19353", "name": "SIN3 transcription regulator family member A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sin3a" }, { "slug": "slc26a2", "symbol": "SLC26A2", "hgnc": "HGNC:10994", "name": "solute carrier family 26 member 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/slc26a2" }, { "slug": "slc6a1", "symbol": "SLC6A1", "hgnc": "HGNC:11042", "name": "solute carrier family 6 member 1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/slc6a1" }, { "slug": "slc6a11", "symbol": "SLC6A11", "hgnc": "HGNC:11044", "name": "solute carrier family 6 member 11", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/slc6a11" }, { "slug": "slc9a7", "symbol": "SLC9A7", "hgnc": "HGNC:17123", "name": "solute carrier family 9 member A7", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/slc9a7" }, { "slug": "smc1a", "symbol": "SMC1A", "hgnc": "HGNC:11111", "name": "structural maintenance of chromosomes 1A", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/smc1a" }, { "slug": "smpd4", "symbol": "SMPD4", "hgnc": "HGNC:32949", "name": "sphingomyelin phosphodiesterase 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/smpd4" }, { "slug": "spen", "symbol": "SPEN", "hgnc": "HGNC:17575", "name": "spen family transcriptional repressor", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/spen" }, { "slug": "steep1", "symbol": "STEEP1", "hgnc": "HGNC:26239", "name": "STING1 ER exit protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/steep1" }, { "slug": "syt1", "symbol": "SYT1", "hgnc": "HGNC:11509", "name": "synaptotagmin 1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/syt1" }, { "slug": "taf6", "symbol": "TAF6", "hgnc": "HGNC:11540", "name": "TATA-box binding protein associated factor 6", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/taf6" }, { "slug": "tbc1d32", "symbol": "TBC1D32", "hgnc": "HGNC:21485", "name": "TBC1 domain family member 32", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tbc1d32" }, { "slug": "tbl1xr1", "symbol": "TBL1XR1", "hgnc": "HGNC:29529", "name": "TBL1X/Y related 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tbl1xr1" }, { "slug": "tmem147", "symbol": "TMEM147", "hgnc": "HGNC:30414", "name": "transmembrane protein 147", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tmem147" }, { "slug": "tnrc6b", "symbol": "TNRC6B", "hgnc": "HGNC:29190", "name": "trinucleotide repeat containing adaptor 6B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tnrc6b" }, { "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": "trip12", "symbol": "TRIP12", "hgnc": "HGNC:12306", "name": "thyroid hormone receptor interactor 12", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/trip12" }, { "slug": "trmt10a", "symbol": "TRMT10A", "hgnc": "HGNC:28403", "name": "tRNA methyltransferase 10A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/trmt10a" }, { "slug": "tubgcp2", "symbol": "TUBGCP2", "hgnc": "HGNC:18599", "name": "tubulin gamma complex component 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tubgcp2" }, { "slug": "usp9x", "symbol": "USP9X", "hgnc": "HGNC:12632", "name": "ubiquitin specific peptidase 9 X-linked", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/usp9x" }, { "slug": "wac", "symbol": "WAC", "hgnc": "HGNC:17327", "name": "WW domain containing adaptor with coiled-coil", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/wac" }, { "slug": "wars2", "symbol": "WARS2", "hgnc": "HGNC:12730", "name": "tryptophanyl tRNA synthetase 2, mitochondrial", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/wars2" }, { "slug": "wdr26", "symbol": "WDR26", "hgnc": "HGNC:21208", "name": "WD repeat domain 26", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/wdr26" }, { "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": "znf292", "symbol": "ZNF292", "hgnc": "HGNC:18410", "name": "zinc finger protein 292", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/znf292" }, { "slug": "znf526", "symbol": "ZNF526", "hgnc": "HGNC:29415", "name": "zinc finger protein 526", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/znf526" }, { "slug": "chd2", "symbol": "CHD2", "hgnc": "HGNC:1917", "name": "chromodomain helicase DNA binding protein 2", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/chd2" }, { "slug": "cntnap2", "symbol": "CNTNAP2", "hgnc": "HGNC:13830", "name": "contactin associated protein 2", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/cntnap2" }, { "slug": "nexmif", "symbol": "NEXMIF", "hgnc": "HGNC:29433", "name": "neurite extension and migration factor", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/nexmif" }, { "slug": "ppp2r5d", "symbol": "PPP2R5D", "hgnc": "HGNC:9312", "name": "protein phosphatase 2 regulatory subunit B'delta", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/ppp2r5d" }, { "slug": "rnu4-2", "symbol": "RNU4-2", "hgnc": "HGNC:10193", "name": "RNA, U4 small nuclear 2", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/rnu4-2" }, { "slug": "scn1a", "symbol": "SCN1A", "hgnc": "HGNC:10585", "name": "sodium voltage-gated channel alpha subunit 1", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/scn1a" }, { "slug": "slc2a1", "symbol": "SLC2A1", "hgnc": "HGNC:11005", "name": "solute carrier family 2 member 1", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/slc2a1" }, { "slug": "sptbn1", "symbol": "SPTBN1", "hgnc": "HGNC:11275", "name": "spectrin beta, non-erythrocytic 1", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/sptbn1" }, { "slug": "syngap1", "symbol": "SYNGAP1", "hgnc": "HGNC:11497", "name": "synaptic Ras GTPase activating protein 1", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/syngap1" }, { "slug": "actg1", "symbol": "ACTG1", "hgnc": "HGNC:144", "name": "actin gamma 1", "diseases": 1, "url": "https://dantelabs.com/genes/actg1" }, { "slug": "agl", "symbol": "AGL", "hgnc": "HGNC:321", "name": "amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase", "diseases": 1, "url": "https://dantelabs.com/genes/agl" }, { "slug": "ago1", "symbol": "AGO1", "hgnc": "HGNC:3262", "name": "argonaute RISC component 1", "diseases": 1, "url": "https://dantelabs.com/genes/ago1" }, { "slug": "arhgef2", "symbol": "ARHGEF2", "hgnc": "HGNC:682", "name": "Rho/Rac guanine nucleotide exchange factor 2", "diseases": 1, "url": "https://dantelabs.com/genes/arhgef2" }, { "slug": "atn1", "symbol": "ATN1", "hgnc": "HGNC:3033", "name": "atrophin 1", "diseases": 1, "url": "https://dantelabs.com/genes/atn1" }, { "slug": "atrx", "symbol": "ATRX", "hgnc": "HGNC:886", "name": "ATRX chromatin remodeler", "diseases": 1, "url": "https://dantelabs.com/genes/atrx" }, { "slug": "cdk10", "symbol": "CDK10", "hgnc": "HGNC:1770", "name": "cyclin dependent kinase 10", "diseases": 1, "url": "https://dantelabs.com/genes/cdk10" }, { "slug": "clp1", "symbol": "CLP1", "hgnc": "HGNC:16999", "name": "cleavage factor polyribonucleotide kinase subunit 1", "diseases": 1, "url": "https://dantelabs.com/genes/clp1" }, { "slug": "cltc", "symbol": "CLTC", "hgnc": "HGNC:2092", "name": "clathrin heavy chain", "diseases": 1, "url": "https://dantelabs.com/genes/cltc" }, { "slug": "foxg1", "symbol": "FOXG1", "hgnc": "HGNC:3811", "name": "forkhead box G1", "diseases": 1, "url": "https://dantelabs.com/genes/foxg1" }, { "slug": "glis3", "symbol": "GLIS3", "hgnc": "HGNC:28510", "name": "GLIS family zinc finger 3", "diseases": 1, "url": "https://dantelabs.com/genes/glis3" }, { "slug": "igf1r", "symbol": "IGF1R", "hgnc": "HGNC:5465", "name": "insulin like growth factor 1 receptor", "diseases": 1, "url": "https://dantelabs.com/genes/igf1r" }, { "slug": "kat6b", "symbol": "KAT6B", "hgnc": "HGNC:17582", "name": "lysine acetyltransferase 6B", "diseases": 1, "url": "https://dantelabs.com/genes/kat6b" }, { "slug": "kif11", "symbol": "KIF11", "hgnc": "HGNC:6388", "name": "kinesin family member 11", "diseases": 1, "url": "https://dantelabs.com/genes/kif11" }, { "slug": "lmbrd1", "symbol": "LMBRD1", "hgnc": "HGNC:23038", "name": "LMBR1 domain containing 1", "diseases": 1, "url": "https://dantelabs.com/genes/lmbrd1" }, { "slug": "mbd5", "symbol": "MBD5", "hgnc": "HGNC:20444", "name": "methyl-CpG binding domain protein 5", "diseases": 1, "url": "https://dantelabs.com/genes/mbd5" }, { "slug": "med13", "symbol": "MED13", "hgnc": "HGNC:22474", "name": "mediator complex subunit 13", "diseases": 1, "url": "https://dantelabs.com/genes/med13" }, { "slug": "mid1", "symbol": "MID1", "hgnc": "HGNC:7095", "name": "midline 1", "diseases": 1, "url": "https://dantelabs.com/genes/mid1" }, { "slug": "mtor", "symbol": "MTOR", "hgnc": "HGNC:3942", "name": "mechanistic target of rapamycin kinase", "diseases": 1, "url": "https://dantelabs.com/genes/mtor" }, { "slug": "naa10", "symbol": "NAA10", "hgnc": "HGNC:18704", "name": "N-alpha-acetyltransferase 10, NatA catalytic subunit", "diseases": 1, "url": "https://dantelabs.com/genes/naa10" }, { "slug": "nalcn", "symbol": "NALCN", "hgnc": "HGNC:19082", "name": "sodium leak channel, non-selective", "diseases": 1, "url": "https://dantelabs.com/genes/nalcn" }, { "slug": "nfia", "symbol": "NFIA", "hgnc": "HGNC:7784", "name": "nuclear factor I A", "diseases": 1, "url": "https://dantelabs.com/genes/nfia" }, { "slug": "pbx1", "symbol": "PBX1", "hgnc": "HGNC:8632", "name": "PBX homeobox 1", "diseases": 1, "url": "https://dantelabs.com/genes/pbx1" }, { "slug": "pgap3", "symbol": "PGAP3", "hgnc": "HGNC:23719", "name": "post-GPI attachment to proteins phospholipase 3", "diseases": 1, "url": "https://dantelabs.com/genes/pgap3" }, { "slug": "piezo2", "symbol": "PIEZO2", "hgnc": "HGNC:26270", "name": "piezo type mechanosensitive ion channel component 2", "diseases": 1, "url": "https://dantelabs.com/genes/piezo2" }, { "slug": "pigk", "symbol": "PIGK", "hgnc": "HGNC:8965", "name": "phosphatidylinositol glycan anchor biosynthesis class K", "diseases": 1, "url": "https://dantelabs.com/genes/pigk" }, { "slug": "pqbp1", "symbol": "PQBP1", "hgnc": "HGNC:9330", "name": "polyglutamine binding protein 1", "diseases": 1, "url": "https://dantelabs.com/genes/pqbp1" }, { "slug": "rala", "symbol": "RALA", "hgnc": "HGNC:9839", "name": "RAS like proto-oncogene A", "diseases": 1, "url": "https://dantelabs.com/genes/rala" }, { "slug": "slc25a24", "symbol": "SLC25A24", "hgnc": "HGNC:20662", "name": "solute carrier family 25 member 24", "diseases": 1, "url": "https://dantelabs.com/genes/slc25a24" }, { "slug": "stag2", "symbol": "STAG2", "hgnc": "HGNC:11355", "name": "STAG2 cohesin complex component", "diseases": 1, "url": "https://dantelabs.com/genes/stag2" }, { "slug": "tcf20", "symbol": "TCF20", "hgnc": "HGNC:11631", "name": "transcription factor 20", "diseases": 1, "url": "https://dantelabs.com/genes/tcf20" }, { "slug": "thumpd1", "symbol": "THUMPD1", "hgnc": "HGNC:23807", "name": "THUMP domain 1 NAT10 acetyltransferase adaptor", "diseases": 1, "url": "https://dantelabs.com/genes/thumpd1" }, { "slug": "trrap", "symbol": "TRRAP", "hgnc": "HGNC:12347", "name": "transformation/transcription domain associated protein", "diseases": 1, "url": "https://dantelabs.com/genes/trrap" }, { "slug": "unc80", "symbol": "UNC80", "hgnc": "HGNC:26582", "name": "unc-80 subunit of NALCN channel complex", "diseases": 1, "url": "https://dantelabs.com/genes/unc80" }, { "slug": "wnt5a", "symbol": "WNT5A", "hgnc": "HGNC:12784", "name": "Wnt family member 5A", "diseases": 1, "url": "https://dantelabs.com/genes/wnt5a" }, { "slug": "zbtb18", "symbol": "ZBTB18", "hgnc": "HGNC:13030", "name": "zinc finger and BTB domain containing 18", "diseases": 1, "url": "https://dantelabs.com/genes/zbtb18" } ] } }