{ "url": "https://dantelabs.com/traits/axial-hypotonia", "trait": { "bundleId": "2026.10.19-9814e911", "release": "2026-09-01", "slug": "axial-hypotonia", "id": "HP:0008936", "name": "Low muscle tone in trunk", "label": "Axial hypotonia", "definition": "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.", "synonyms": [ "Muscular hypotonia of the trunk", "Truncal hypotonia" ], "systems": [ { "slug": "abnormality-of-the-musculoskeletal-system", "name": "Abnormality of the musculoskeletal system", "url": "https://dantelabs.com/traits/abnormality-of-the-musculoskeletal-system" } ], "broader": [ { "slug": "hypotonia", "name": "Low muscle tone", "url": "https://dantelabs.com/traits/hypotonia" } ], "narrower": [], "genes": [ { "slug": "acer3", "symbol": "ACER3", "hgnc": "HGNC:16066", "name": "alkaline ceramidase 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/acer3" }, { "slug": "actl6b", "symbol": "ACTL6B", "hgnc": "HGNC:160", "name": "actin like 6B", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/actl6b" }, { "slug": "adcy5", "symbol": "ADCY5", "hgnc": "HGNC:236", "name": "adenylate cyclase 5", "frequency": "obligate", "diseases": 4, "url": "https://dantelabs.com/genes/adcy5" }, { "slug": "aimp1", "symbol": "AIMP1", "hgnc": "HGNC:10648", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/aimp1" }, { "slug": "ap3b2", "symbol": "AP3B2", "hgnc": "HGNC:567", "name": "adaptor related protein complex 3 subunit beta 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ap3b2" }, { "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": "arfgef1", "symbol": "ARFGEF1", "hgnc": "HGNC:15772", "name": "ARF guanine nucleotide exchange factor 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/arfgef1" }, { "slug": "arv1", "symbol": "ARV1", "hgnc": "HGNC:29561", "name": "ARV1 fatty acid homeostasis modulator", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/arv1" }, { "slug": "ash1l", "symbol": "ASH1L", "hgnc": "HGNC:19088", "name": "ASH1 like histone lysine methyltransferase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ash1l" }, { "slug": "borcs8", "symbol": "BORCS8", "hgnc": "HGNC:37247", "name": "BLOC-1 related complex subunit 8", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/borcs8" }, { "slug": "brat1", "symbol": "BRAT1", "hgnc": "HGNC:21701", "name": "BRCA1 associated ATM activator 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/brat1" }, { "slug": "cacna1c", "symbol": "CACNA1C", "hgnc": "HGNC:1390", "name": "calcium voltage-gated channel subunit alpha1 C", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/cacna1c" }, { "slug": "cacna1e", "symbol": "CACNA1E", "hgnc": "HGNC:1392", "name": "calcium voltage-gated channel subunit alpha1 E", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/cacna1e" }, { "slug": "cacna1g", "symbol": "CACNA1G", "hgnc": "HGNC:1394", "name": "calcium voltage-gated channel subunit alpha1 G", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/cacna1g" }, { "slug": "cacna2d1", "symbol": "CACNA2D1", "hgnc": "HGNC:1399", "name": "calcium voltage-gated channel auxiliary subunit alpha2delta 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/cacna2d1" }, { "slug": "cacna2d2", "symbol": "CACNA2D2", "hgnc": "HGNC:1400", "name": "calcium voltage-gated channel auxiliary subunit alpha2delta 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/cacna2d2" }, { "slug": "camlg", "symbol": "CAMLG", "hgnc": "HGNC:1471", "name": "calcium modulating ligand", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/camlg" }, { "slug": "chaserr", "symbol": "CHASERR", "hgnc": "HGNC:48626", "name": "CHD2 adjacent suppressive regulatory RNA", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/chaserr" }, { "slug": "clp1", "symbol": "CLP1", "hgnc": "HGNC:16999", "name": "cleavage factor polyribonucleotide kinase subunit 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/clp1" }, { "slug": "cog4", "symbol": "COG4", "hgnc": "HGNC:18620", "name": "component of oligomeric golgi complex 4", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/cog4" }, { "slug": "ddc", "symbol": "DDC", "hgnc": "HGNC:2719", "name": "dopa decarboxylase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ddc" }, { "slug": "dhdds", "symbol": "DHDDS", "hgnc": "HGNC:20603", "name": "dehydrodolichyl diphosphate synthase subunit", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/dhdds" }, { "slug": "dhrsx", "symbol": "DHRSX", "hgnc": "HGNC:18399", "name": "dehydrogenase/reductase X-linked", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/dhrsx" }, { "slug": "dnm1l", "symbol": "DNM1L", "hgnc": "HGNC:2973", "name": "dynamin 1L", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/dnm1l" }, { "slug": "ebp", "symbol": "EBP", "hgnc": "HGNC:3133", "name": "EBP cholestenol delta-isomerase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ebp" }, { "slug": "eefsec", "symbol": "EEFSEC", "hgnc": "HGNC:24614", "name": "eukaryotic elongation factor, selenocysteine-tRNA specific", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/eefsec" }, { "slug": "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": "elp2", "symbol": "ELP2", "hgnc": "HGNC:18248", "name": "elongator acetyltransferase complex subunit 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/elp2" }, { "slug": "ercc6", "symbol": "ERCC6", "hgnc": "HGNC:3438", "name": "ERCC excision repair 6, chromatin remodeling factor", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/ercc6" }, { "slug": "farsb", "symbol": "FARSB", "hgnc": "HGNC:17800", "name": "phenylalanyl-tRNA synthetase subunit beta", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/farsb" }, { "slug": "fdxr", "symbol": "FDXR", "hgnc": "HGNC:3642", "name": "ferredoxin reductase", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/fdxr" }, { "slug": "fem1b", "symbol": "FEM1B", "hgnc": "HGNC:3649", "name": "fem-1 homolog B", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/fem1b" }, { "slug": "fzr1", "symbol": "FZR1", "hgnc": "HGNC:24824", "name": "fizzy and cell division cycle 20 related 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/fzr1" }, { "slug": "gcsh", "symbol": "GCSH", "hgnc": "HGNC:4208", "name": "glycine cleavage system protein H", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/gcsh" }, { "slug": "gls", "symbol": "GLS", "hgnc": "HGNC:4331", "name": "glutaminase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/gls" }, { "slug": "glyctk", "symbol": "GLYCTK", "hgnc": "HGNC:24247", "name": "glycerate kinase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/glyctk" }, { "slug": "gosr2", "symbol": "GOSR2", "hgnc": "HGNC:4431", "name": "golgi SNAP receptor complex member 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/gosr2" }, { "slug": "gphn", "symbol": "GPHN", "hgnc": "HGNC:15465", "name": "gephyrin", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/gphn" }, { "slug": "grin1", "symbol": "GRIN1", "hgnc": "HGNC:4584", "name": "glutamate ionotropic receptor NMDA type subunit 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/grin1" }, { "slug": "grin2d", "symbol": "GRIN2D", "hgnc": "HGNC:4588", "name": "glutamate ionotropic receptor NMDA type subunit 2D", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/grin2d" }, { "slug": "grm1", "symbol": "GRM1", "hgnc": "HGNC:4593", "name": "glutamate metabotropic receptor 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/grm1" }, { "slug": "grm7", "symbol": "GRM7", "hgnc": "HGNC:4599", "name": "glutamate metabotropic receptor 7", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/grm7" }, { "slug": "gtf3c3", "symbol": "GTF3C3", "hgnc": "HGNC:4666", "name": "general transcription factor IIIC subunit 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/gtf3c3" }, { "slug": "gtpbp1", "symbol": "GTPBP1", "hgnc": "HGNC:4669", "name": "GTP binding protein 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/gtpbp1" }, { "slug": "gtpbp2", "symbol": "GTPBP2", "hgnc": "HGNC:4670", "name": "GTP binding protein 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/gtpbp2" }, { "slug": "hmbs", "symbol": "HMBS", "hgnc": "HGNC:4982", "name": "hydroxymethylbilane synthase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/hmbs" }, { "slug": "hycc1", "symbol": "HYCC1", "hgnc": "HGNC:24587", "name": "hyccin PI4KA lipid kinase complex subunit 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/hycc1" }, { "slug": "ireb2", "symbol": "IREB2", "hgnc": "HGNC:6115", "name": "iron responsive element binding protein 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ireb2" }, { "slug": "jkamp", "symbol": "JKAMP", "hgnc": "HGNC:20184", "name": "JNK1/MAPK8 associated membrane protein", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/jkamp" }, { "slug": "kdm6b", "symbol": "KDM6B", "hgnc": "HGNC:29012", "name": "lysine demethylase 6B", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/kdm6b" }, { "slug": "kif1a", "symbol": "KIF1A", "hgnc": "HGNC:888", "name": "kinesin family member 1A", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/kif1a" }, { "slug": "lipt2", "symbol": "LIPT2", "hgnc": "HGNC:37216", "name": "lipoyl(octanoyl) transferase 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/lipt2" }, { "slug": "lsm7", "symbol": "LSM7", "hgnc": "HGNC:20470", "name": "LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/lsm7" }, { "slug": "mdga2", "symbol": "MDGA2", "hgnc": "HGNC:19835", "name": "MAM domain containing glycosylphosphatidylinositol anchor 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/mdga2" }, { "slug": "mecp2", "symbol": "MECP2", "hgnc": "HGNC:6990", "name": "methyl-CpG binding protein 2", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/mecp2" }, { "slug": "med16", "symbol": "MED16", "hgnc": "HGNC:17556", "name": "mediator complex subunit 16", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/med16" }, { "slug": "med23", "symbol": "MED23", "hgnc": "HGNC:2372", "name": "mediator complex subunit 23", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/med23" }, { "slug": "megf10", "symbol": "MEGF10", "hgnc": "HGNC:29634", "name": "multiple EGF like domains 10", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/megf10" }, { "slug": "minpp1", "symbol": "MINPP1", "hgnc": "HGNC:7102", "name": "multiple inositol-polyphosphate phosphatase 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/minpp1" }, { "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": "mpv17", "symbol": "MPV17", "hgnc": "HGNC:7224", "name": "mitochondrial inner membrane protein MPV17", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/mpv17" }, { "slug": "mrpl12", "symbol": "MRPL12", "hgnc": "HGNC:10378", "name": "mitochondrial ribosomal protein L12", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/mrpl12" }, { "slug": "msl2", "symbol": "MSL2", "hgnc": "HGNC:25544", "name": "MSL complex subunit 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/msl2" }, { "slug": "nalcn", "symbol": "NALCN", "hgnc": "HGNC:19082", "name": "sodium leak channel, non-selective", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nalcn" }, { "slug": "napb", "symbol": "NAPB", "hgnc": "HGNC:15751", "name": "NSF attachment protein beta", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/napb" }, { "slug": "ndufa13", "symbol": "NDUFA13", "hgnc": "HGNC:17194", "name": "NADH:ubiquinone oxidoreductase subunit A13", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ndufa13" }, { "slug": "ndufv2", "symbol": "NDUFV2", "hgnc": "HGNC:7717", "name": "NADH:ubiquinone oxidoreductase core subunit V2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ndufv2" }, { "slug": "necap1", "symbol": "NECAP1", "hgnc": "HGNC:24539", "name": "NECAP endocytosis associated 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/necap1" }, { "slug": "nfu1", "symbol": "NFU1", "hgnc": "HGNC:16287", "name": "NFU1 iron-sulfur cluster scaffold", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nfu1" }, { "slug": "nmnat1", "symbol": "NMNAT1", "hgnc": "HGNC:17877", "name": "nicotinamide nucleotide adenylyltransferase 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nmnat1" }, { "slug": "nono", "symbol": "NONO", "hgnc": "HGNC:7871", "name": "non-POU domain containing octamer binding", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nono" }, { "slug": "notch3", "symbol": "NOTCH3", "hgnc": "HGNC:7883", "name": "notch receptor 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/notch3" }, { "slug": "nrros", "symbol": "NRROS", "hgnc": "HGNC:24613", "name": "negative regulator of reactive oxygen species", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nrros" }, { "slug": "nsrp1", "symbol": "NSRP1", "hgnc": "HGNC:25305", "name": "nuclear speckle splicing regulatory protein 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nsrp1" }, { "slug": "nt5c2", "symbol": "NT5C2", "hgnc": "HGNC:8022", "name": "5'-nucleotidase, cytosolic II", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nt5c2" }, { "slug": "nus1", "symbol": "NUS1", "hgnc": "HGNC:21042", "name": "NUS1 dehydrodolichyl diphosphate synthase subunit", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nus1" }, { "slug": "pcdh12", "symbol": "PCDH12", "hgnc": "HGNC:8657", "name": "protocadherin 12", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pcdh12" }, { "slug": "pclo", "symbol": "PCLO", "hgnc": "HGNC:13406", "name": "piccolo presynaptic cytomatrix protein", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pclo" }, { "slug": "pex14", "symbol": "PEX14", "hgnc": "HGNC:8856", "name": "peroxisomal biogenesis factor 14", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pex14" }, { "slug": "pex3", "symbol": "PEX3", "hgnc": "HGNC:8858", "name": "peroxisomal biogenesis factor 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pex3" }, { "slug": "pgbd5", "symbol": "PGBD5", "hgnc": "HGNC:19405", "name": "piggyBac transposable element derived 5", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pgbd5" }, { "slug": "pi4k2a", "symbol": "PI4K2A", "hgnc": "HGNC:30031", "name": "phosphatidylinositol 4-kinase type 2 alpha", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pi4k2a" }, { "slug": "piga", "symbol": "PIGA", "hgnc": "HGNC:8957", "name": "phosphatidylinositol glycan anchor biosynthesis class A", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/piga" }, { "slug": "pigy", "symbol": "PIGY", "hgnc": "HGNC:28213", "name": "phosphatidylinositol glycan anchor biosynthesis class Y", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pigy" }, { "slug": "plcb1", "symbol": "PLCB1", "hgnc": "HGNC:15917", "name": "phospholipase C beta 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/plcb1" }, { "slug": "pnpt1", "symbol": "PNPT1", "hgnc": "HGNC:23166", "name": "polyribonucleotide nucleotidyltransferase 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/pnpt1" }, { "slug": "prdm13", "symbol": "PRDM13", "hgnc": "HGNC:13998", "name": "PR/SET domain 13", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/prdm13" }, { "slug": "psmc1", "symbol": "PSMC1", "hgnc": "HGNC:9547", "name": "proteasome 26S subunit, ATPase 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/psmc1" }, { "slug": "ptpn23", "symbol": "PTPN23", "hgnc": "HGNC:14406", "name": "protein tyrosine phosphatase non-receptor type 23", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ptpn23" }, { "slug": "pum1", "symbol": "PUM1", "hgnc": "HGNC:14957", "name": "pumilio RNA binding family member 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pum1" }, { "slug": "rab18", "symbol": "RAB18", "hgnc": "HGNC:14244", "name": "RAB18, member RAS oncogene family", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rab18" }, { "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": "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": "rrm2b", "symbol": "RRM2B", "hgnc": "HGNC:17296", "name": "ribonucleotide reductase regulatory TP53 inducible subunit M2B", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rrm2b" }, { "slug": "sco1", "symbol": "SCO1", "hgnc": "HGNC:10603", "name": "synthesis of cytochrome C oxidase 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/sco1" }, { "slug": "sel1l", "symbol": "SEL1L", "hgnc": "HGNC:10717", "name": "SEL1L adaptor subunit of SYVN1 ubiquitin ligase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/sel1l" }, { "slug": "slc13a5", "symbol": "SLC13A5", "hgnc": "HGNC:23089", "name": "solute carrier family 13 member 5", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/slc13a5" }, { "slug": "slc18a2", "symbol": "SLC18A2", "hgnc": "HGNC:10935", "name": "solute carrier family 18 member A2", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/slc18a2" }, { "slug": "slc25a19", "symbol": "SLC25A19", "hgnc": "HGNC:14409", "name": "solute carrier family 25 member 19", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/slc25a19" }, { "slug": "slc30a9", "symbol": "SLC30A9", "hgnc": "HGNC:1329", "name": "solute carrier family 30 member 9", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/slc30a9" }, { "slug": "slc31a1", "symbol": "SLC31A1", "hgnc": "HGNC:11016", "name": "solute carrier family 31 member 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/slc31a1" }, { "slug": "slc38a3", "symbol": "SLC38A3", "hgnc": "HGNC:18044", "name": "solute carrier family 38 member 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/slc38a3" }, { "slug": "smc1a", "symbol": "SMC1A", "hgnc": "HGNC:11111", "name": "structural maintenance of chromosomes 1A", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/smc1a" }, { "slug": "sod1", "symbol": "SOD1", "hgnc": "HGNC:11179", "name": "superoxide dismutase 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/sod1" }, { "slug": "spout1", "symbol": "SPOUT1", "hgnc": "HGNC:26933", "name": "SPOUT domain containing methyltransferase 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/spout1" }, { "slug": "sptssa", "symbol": "SPTSSA", "hgnc": "HGNC:20361", "name": "serine palmitoyltransferase small subunit A", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/sptssa" }, { "slug": "suclg1", "symbol": "SUCLG1", "hgnc": "HGNC:11449", "name": "succinate-CoA ligase GDP/ADP-forming subunit alpha", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/suclg1" }, { "slug": "suox", "symbol": "SUOX", "hgnc": "HGNC:11460", "name": "sulfite oxidase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/suox" }, { "slug": "tars2", "symbol": "TARS2", "hgnc": "HGNC:30740", "name": "threonyl-tRNA synthetase 2, mitochondrial", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/tars2" }, { "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": "tmtc3", "symbol": "TMTC3", "hgnc": "HGNC:26899", "name": "transmembrane O-mannosyltransferase targeting cadherins 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/tmtc3" }, { "slug": "tra2b", "symbol": "TRA2B", "hgnc": "HGNC:10781", "name": "transformer 2 beta homolog", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/tra2b" }, { "slug": "trappc12", "symbol": "TRAPPC12", "hgnc": "HGNC:24284", "name": "trafficking protein particle complex subunit 12", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/trappc12" }, { "slug": "tsen2", "symbol": "TSEN2", "hgnc": "HGNC:28422", "name": "tRNA splicing endonuclease subunit 2", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/tsen2" }, { "slug": "uba5", "symbol": "UBA5", "hgnc": "HGNC:23230", "name": "ubiquitin like modifier activating enzyme 5", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/uba5" }, { "slug": "ube3b", "symbol": "UBE3B", "hgnc": "HGNC:13478", "name": "ubiquitin protein ligase E3B", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ube3b" }, { "slug": "ufc1", "symbol": "UFC1", "hgnc": "HGNC:26941", "name": "ubiquitin-fold modifier conjugating enzyme 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ufc1" }, { "slug": "ugp2", "symbol": "UGP2", "hgnc": "HGNC:12527", "name": "UDP-glucose pyrophosphorylase 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ugp2" }, { "slug": "uqcrq", "symbol": "UQCRQ", "hgnc": "HGNC:29594", "name": "ubiquinol-cytochrome c reductase complex III subunit VII", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/uqcrq" }, { "slug": "vamp2", "symbol": "VAMP2", "hgnc": "HGNC:12643", "name": "vesicle associated membrane protein 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/vamp2" }, { "slug": "wars2", "symbol": "WARS2", "hgnc": "HGNC:12730", "name": "tryptophanyl tRNA synthetase 2, mitochondrial", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/wars2" }, { "slug": "znf526", "symbol": "ZNF526", "hgnc": "HGNC:29415", "name": "zinc finger protein 526", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/znf526" }, { "slug": "atad3a", "symbol": "ATAD3A", "hgnc": "HGNC:25567", "name": "ATPase family AAA domain containing 3A", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/atad3a" }, { "slug": "cep85l", "symbol": "CEP85L", "hgnc": "HGNC:21638", "name": "centrosomal protein 85L", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cep85l" }, { "slug": "ctnnb1", "symbol": "CTNNB1", "hgnc": "HGNC:2514", "name": "catenin beta 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ctnnb1" }, { "slug": "dars1", "symbol": "DARS1", "hgnc": "HGNC:2678", "name": "aspartyl-tRNA synthetase 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dars1" }, { "slug": "emc1", "symbol": "EMC1", "hgnc": "HGNC:28957", "name": "ER membrane protein complex subunit 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/emc1" }, { "slug": "gm2a", "symbol": "GM2A", "hgnc": "HGNC:4367", "name": "ganglioside GM2 activator", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/gm2a" }, { "slug": "hexb", "symbol": "HEXB", "hgnc": "HGNC:4879", "name": "hexosaminidase subunit beta", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hexb" }, { "slug": "ifih1", "symbol": "IFIH1", "hgnc": "HGNC:18873", "name": "interferon induced with helicase C domain 1", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ifih1" }, { "slug": "lmx1b", "symbol": "LMX1B", "hgnc": "HGNC:6654", "name": "LIM homeobox transcription factor 1 beta", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/lmx1b" }, { "slug": "macf1", "symbol": "MACF1", "hgnc": "HGNC:13664", "name": "microtubule actin crosslinking factor 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/macf1" }, { "slug": "pax7", "symbol": "PAX7", "hgnc": "HGNC:8621", "name": "paired box 7", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pax7" }, { "slug": "prune1", "symbol": "PRUNE1", "hgnc": "HGNC:13420", "name": "prune exopolyphosphatase 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/prune1" }, { "slug": "rusc2", "symbol": "RUSC2", "hgnc": "HGNC:23625", "name": "RUN and SH3 domain containing 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rusc2" }, { "slug": "sdhb", "symbol": "SDHB", "hgnc": "HGNC:10681", "name": "succinate dehydrogenase complex iron sulfur subunit B", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sdhb" }, { "slug": "slc16a2", "symbol": "SLC16A2", "hgnc": "HGNC:10923", "name": "solute carrier family 16 member 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/slc16a2" }, { "slug": "slc4a10", "symbol": "SLC4A10", "hgnc": "HGNC:13811", "name": "solute carrier family 4 member 10", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/slc4a10" }, { "slug": "smg9", "symbol": "SMG9", "hgnc": "HGNC:25763", "name": "SMG9 nonsense mediated mRNA decay factor", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/smg9" }, { "slug": "stxbp1", "symbol": "STXBP1", "hgnc": "HGNC:11444", "name": "syntaxin binding protein 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/stxbp1" }, { "slug": "tubb3", "symbol": "TUBB3", "hgnc": "HGNC:20772", "name": "tubulin beta 3 class III", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/tubb3" }, { "slug": "aars1", "symbol": "AARS1", "hgnc": "HGNC:20", "name": "alanyl-tRNA synthetase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/aars1" }, { "slug": "abcc8", "symbol": "ABCC8", "hgnc": "HGNC:59", "name": "ATP binding cassette subfamily C member 8", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/abcc8" }, { "slug": "adar", "symbol": "ADAR", "hgnc": "HGNC:225", "name": "adenosine deaminase RNA specific", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/adar" }, { "slug": "ascc3", "symbol": "ASCC3", "hgnc": "HGNC:18697", "name": "activating signal cointegrator 1 complex subunit 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ascc3" }, { "slug": "asns", "symbol": "ASNS", "hgnc": "HGNC:753", "name": "asparagine synthetase (glutamine-hydrolyzing)", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/asns" }, { "slug": "asxl1", "symbol": "ASXL1", "hgnc": "HGNC:18318", "name": "ASXL transcriptional regulator 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/asxl1" }, { "slug": "atg7", "symbol": "ATG7", "hgnc": "HGNC:16935", "name": "autophagy related 7", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/atg7" }, { "slug": "b4galt1", "symbol": "B4GALT1", "hgnc": "HGNC:924", "name": "beta-1,4-galactosyltransferase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/b4galt1" }, { "slug": "b9d1", "symbol": "B9D1", "hgnc": "HGNC:24123", "name": "B9 domain containing 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/b9d1" }, { "slug": "bcs1l", "symbol": "BCS1L", "hgnc": "HGNC:1020", "name": "BCS1 ubiquinol-cytochrome c reductase complex chaperone", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bcs1l" }, { "slug": "camta1", "symbol": "CAMTA1", "hgnc": "HGNC:18806", "name": "calmodulin binding transcription activator 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/camta1" }, { "slug": "cask", "symbol": "CASK", "hgnc": "HGNC:1497", "name": "calcium/calmodulin dependent serine protein kinase", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/cask" }, { "slug": "cdh2", "symbol": "CDH2", "hgnc": "HGNC:1759", "name": "cadherin 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cdh2" }, { "slug": "cert1", "symbol": "CERT1", "hgnc": "HGNC:2205", "name": "ceramide transporter 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cert1" }, { "slug": "chp1", "symbol": "CHP1", "hgnc": "HGNC:17433", "name": "calcineurin like EF-hand protein 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/chp1" }, { "slug": "clcn6", "symbol": "CLCN6", "hgnc": "HGNC:2024", "name": "Cl-/H+ antiporter 6", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/clcn6" }, { "slug": "cldn11", "symbol": "CLDN11", "hgnc": "HGNC:8514", "name": "claudin 11", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cldn11" }, { "slug": "cog3", "symbol": "COG3", "hgnc": "HGNC:18619", "name": "component of oligomeric golgi complex 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cog3" }, { "slug": "coq8a", "symbol": "COQ8A", "hgnc": "HGNC:16812", "name": "coenzyme Q8A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/coq8a" }, { "slug": "dhps", "symbol": "DHPS", "hgnc": "HGNC:2869", "name": "deoxyhypusine synthase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dhps" }, { "slug": "dhx9", "symbol": "DHX9", "hgnc": "HGNC:2750", "name": "DExH-box helicase 9", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dhx9" }, { "slug": "dock6", "symbol": "DOCK6", "hgnc": "HGNC:19189", "name": "dedicator of cytokinesis 6", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dock6" }, { "slug": "ears2", "symbol": "EARS2", "hgnc": "HGNC:29419", "name": "glutamyl-tRNA synthetase 2, mitochondrial", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ears2" }, { "slug": "ebf3", "symbol": "EBF3", "hgnc": "HGNC:19087", "name": "EBF transcription factor 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ebf3" }, { "slug": "eif2s3", "symbol": "EIF2S3", "hgnc": "HGNC:3267", "name": "eukaryotic translation initiation factor 2 subunit gamma", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/eif2s3" }, { "slug": "exosc9", "symbol": "EXOSC9", "hgnc": "HGNC:9137", "name": "exosome component 9", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/exosc9" }, { "slug": "extl3", "symbol": "EXTL3", "hgnc": "HGNC:3518", "name": "exostosin like glycosyltransferase 3", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/extl3" }, { "slug": "far1", "symbol": "FAR1", "hgnc": "HGNC:26222", "name": "fatty acyl-CoA reductase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/far1" }, { "slug": "fbxo28", "symbol": "FBXO28", "hgnc": "HGNC:29046", "name": "F-box protein 28", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fbxo28" }, { "slug": "fgf12", "symbol": "FGF12", "hgnc": "HGNC:3668", "name": "fibroblast growth factor 12", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fgf12" }, { "slug": "gad1", "symbol": "GAD1", "hgnc": "HGNC:4092", "name": "glutamate decarboxylase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gad1" }, { "slug": "galc", "symbol": "GALC", "hgnc": "HGNC:4115", "name": "galactosylceramidase", "frequency": "frequent", "diseases": 3, "url": "https://dantelabs.com/genes/galc" }, { "slug": "gfer", "symbol": "GFER", "hgnc": "HGNC:4236", "name": "growth factor, augmenter of liver regeneration", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gfer" }, { "slug": "gfm1", "symbol": "GFM1", "hgnc": "HGNC:13780", "name": "G elongation factor mitochondrial 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/gfm1" }, { "slug": "gfm2", "symbol": "GFM2", "hgnc": "HGNC:29682", "name": "GTP dependent ribosome recycling factor mitochondrial 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gfm2" }, { "slug": "grin2b", "symbol": "GRIN2B", "hgnc": "HGNC:4586", "name": "glutamate ionotropic receptor NMDA type subunit 2B", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/grin2b" }, { "slug": "guf1", "symbol": "GUF1", "hgnc": "HGNC:25799", "name": "GTP binding elongation factor GUF1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/guf1" }, { "slug": "hace1", "symbol": "HACE1", "hgnc": "HGNC:21033", "name": "HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/hace1" }, { "slug": "inpp4a", "symbol": "INPP4A", "hgnc": "HGNC:6074", "name": "inositol polyphosphate-4-phosphatase type I A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/inpp4a" }, { "slug": "kars1", "symbol": "KARS1", "hgnc": "HGNC:6215", "name": "lysyl-tRNA synthetase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kars1" }, { "slug": "kcnj11", "symbol": "KCNJ11", "hgnc": "HGNC:6257", "name": "potassium inwardly rectifying channel subfamily J member 11", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kcnj11" }, { "slug": "kcnma1", "symbol": "KCNMA1", "hgnc": "HGNC:6284", "name": "potassium calcium-activated channel subfamily M alpha 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kcnma1" }, { "slug": "kcnt1", "symbol": "KCNT1", "hgnc": "HGNC:18865", "name": "potassium sodium-activated channel subfamily T member 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kcnt1" }, { "slug": "kidins220", "symbol": "KIDINS220", "hgnc": "HGNC:29508", "name": "kinase D interacting substrate 220", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kidins220" }, { "slug": "klhl20", "symbol": "KLHL20", "hgnc": "HGNC:25056", "name": "kelch like family member 20", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/klhl20" }, { "slug": "lgi1", "symbol": "LGI1", "hgnc": "HGNC:6572", "name": "leucine rich glioma inactivated 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/lgi1" }, { "slug": "lrrc32", "symbol": "LRRC32", "hgnc": "HGNC:4161", "name": "leucine rich repeat containing 32", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/lrrc32" }, { "slug": "lrrc7", "symbol": "LRRC7", "hgnc": "HGNC:18531", "name": "leucine rich repeat containing 7", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/lrrc7" }, { "slug": "lsm11", "symbol": "LSM11", "hgnc": "HGNC:30860", "name": "LSM11, U7 small nuclear RNA associated", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/lsm11" }, { "slug": "lyrm7", "symbol": "LYRM7", "hgnc": "HGNC:28072", "name": "LYR motif containing 7", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/lyrm7" }, { "slug": "med11", "symbol": "MED11", "hgnc": "HGNC:32687", "name": "mediator complex subunit 11", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/med11" }, { "slug": "mff", "symbol": "MFF", "hgnc": "HGNC:24858", "name": "mitochondrial fission factor", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mff" }, { "slug": "micos13", "symbol": "MICOS13", "hgnc": "HGNC:33702", "name": "mitochondrial contact site and cristae organizing system subunit 13", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/micos13" }, { "slug": "mmachc", "symbol": "MMACHC", "hgnc": "HGNC:24525", "name": "metabolism of cobalamin associated C", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mmachc" }, { "slug": "nars2", "symbol": "NARS2", "hgnc": "HGNC:26274", "name": "asparaginyl-tRNA synthetase 2, mitochondrial", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nars2" }, { "slug": "ndufa1", "symbol": "NDUFA1", "hgnc": "HGNC:7683", "name": "NADH:ubiquinone oxidoreductase subunit A1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ndufa1" }, { "slug": "ndufb11", "symbol": "NDUFB11", "hgnc": "HGNC:20372", "name": "NADH:ubiquinone oxidoreductase subunit B11", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ndufb11" }, { "slug": "ndufc2", "symbol": "NDUFC2", "hgnc": "HGNC:7706", "name": "NADH:ubiquinone oxidoreductase subunit C2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ndufc2" }, { "slug": "ndufs1", "symbol": "NDUFS1", "hgnc": "HGNC:7707", "name": "NADH:ubiquinone oxidoreductase core subunit S1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ndufs1" }, { "slug": "ndufs2", "symbol": "NDUFS2", "hgnc": "HGNC:7708", "name": "NADH:ubiquinone oxidoreductase core subunit S2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ndufs2" }, { "slug": "nedd4l", "symbol": "NEDD4L", "hgnc": "HGNC:7728", "name": "NEDD4 like E3 ubiquitin protein ligase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nedd4l" }, { "slug": "neurod2", "symbol": "NEUROD2", "hgnc": "HGNC:7763", "name": "neuronal differentiation 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/neurod2" }, { "slug": "nfix", "symbol": "NFIX", "hgnc": "HGNC:7788", "name": "nuclear factor I X", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nfix" }, { "slug": "opa1", "symbol": "OPA1", "hgnc": "HGNC:8140", "name": "OPA1 mitochondrial dynamin like GTPase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/opa1" }, { "slug": "ostm1", "symbol": "OSTM1", "hgnc": "HGNC:21652", "name": "osteoclastogenesis associated transmembrane protein 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ostm1" }, { "slug": "pafah1b1", "symbol": "PAFAH1B1", "hgnc": "HGNC:8574", "name": "platelet activating factor acetylhydrolase 1b regulatory subunit 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/pafah1b1" }, { "slug": "pde10a", "symbol": "PDE10A", "hgnc": "HGNC:8772", "name": "phosphodiesterase 10A", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/pde10a" }, { "slug": "pde2a", "symbol": "PDE2A", "hgnc": "HGNC:8777", "name": "phosphodiesterase 2A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pde2a" }, { "slug": "pdp1", "symbol": "PDP1", "hgnc": "HGNC:9279", "name": "pyruvate dehydrogenase phosphatase catalytic subunit 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pdp1" }, { "slug": "pgap1", "symbol": "PGAP1", "hgnc": "HGNC:25712", "name": "post-GPI attachment to proteins inositol deacylase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pgap1" }, { "slug": "pla2g6", "symbol": "PLA2G6", "hgnc": "HGNC:9039", "name": "phospholipase A2 group VI", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pla2g6" }, { "slug": "plp1", "symbol": "PLP1", "hgnc": "HGNC:9086", "name": "proteolipid protein 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/plp1" }, { "slug": "pmm2", "symbol": "PMM2", "hgnc": "HGNC:9115", "name": "phosphomannomutase 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pmm2" }, { "slug": "pnpo", "symbol": "PNPO", "hgnc": "HGNC:30260", "name": "pyridoxamine 5'-phosphate oxidase", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/pnpo" }, { "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": "prdx1", "symbol": "PRDX1", "hgnc": "HGNC:9352", "name": "peroxiredoxin 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/prdx1" }, { "slug": "prps1", "symbol": "PRPS1", "hgnc": "HGNC:9462", "name": "phosphoribosyl pyrophosphate synthetase 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/prps1" }, { "slug": "prr12", "symbol": "PRR12", "hgnc": "HGNC:29217", "name": "proline rich 12", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/prr12" }, { "slug": "psap", "symbol": "PSAP", "hgnc": "HGNC:9498", "name": "prosaposin", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/psap" }, { "slug": "psat1", "symbol": "PSAT1", "hgnc": "HGNC:19129", "name": "phosphoserine aminotransferase 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/psat1" }, { "slug": "ptbp1", "symbol": "PTBP1", "hgnc": "HGNC:9583", "name": "polypyrimidine tract binding protein 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ptbp1" }, { "slug": "rars1", "symbol": "RARS1", "hgnc": "HGNC:9870", "name": "arginyl-tRNA synthetase 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/rars1" }, { "slug": "rars2", "symbol": "RARS2", "hgnc": "HGNC:21406", "name": "arginyl-tRNA synthetase 2, mitochondrial", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rars2" }, { "slug": "reps1", "symbol": "REPS1", "hgnc": "HGNC:15578", "name": "RALBP1 associated Eps domain containing 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/reps1" }, { "slug": "rnaseh2a", "symbol": "RNASEH2A", "hgnc": "HGNC:18518", "name": "ribonuclease H2 subunit A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rnaseh2a" }, { "slug": "rnaseh2b", "symbol": "RNASEH2B", "hgnc": "HGNC:25671", "name": "ribonuclease H2 subunit B", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rnaseh2b" }, { "slug": "rnaseh2c", "symbol": "RNASEH2C", "hgnc": "HGNC:24116", "name": "ribonuclease H2 subunit C", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rnaseh2c" }, { "slug": "rnu12", "symbol": "RNU12", "hgnc": "HGNC:19380", "name": "RNA, U12 small nuclear", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/rnu12" }, { "slug": "rnu7-1", "symbol": "RNU7-1", "hgnc": "HGNC:34033", "name": "RNA, U7 small nuclear 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/rnu7-1" }, { "slug": "robo3", "symbol": "ROBO3", "hgnc": "HGNC:13433", "name": "roundabout guidance receptor 3", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/robo3" }, { "slug": "ryr1", "symbol": "RYR1", "hgnc": "HGNC:10483", "name": "ryanodine receptor 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ryr1" }, { "slug": "samhd1", "symbol": "SAMHD1", "hgnc": "HGNC:15925", "name": "SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/samhd1" }, { "slug": "scn1a", "symbol": "SCN1A", "hgnc": "HGNC:10585", "name": "sodium voltage-gated channel alpha subunit 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/scn1a" }, { "slug": "slc1a2", "symbol": "SLC1A2", "hgnc": "HGNC:10940", "name": "solute carrier family 1 member 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/slc1a2" }, { "slug": "slc25a12", "symbol": "SLC25A12", "hgnc": "HGNC:10982", "name": "solute carrier family 25 member 12", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/slc25a12" }, { "slug": "slc35a2", "symbol": "SLC35A2", "hgnc": "HGNC:11022", "name": "solute carrier family 35 member A2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/slc35a2" }, { "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": "slc39a14", "symbol": "SLC39A14", "hgnc": "HGNC:20858", "name": "solute carrier family 39 member 14", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/slc39a14" }, { "slug": "slc6a3", "symbol": "SLC6A3", "hgnc": "HGNC:11049", "name": "solute carrier family 6 member 3", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/slc6a3" }, { "slug": "slc6a8", "symbol": "SLC6A8", "hgnc": "HGNC:11055", "name": "solute carrier family 6 member 8", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/slc6a8" }, { "slug": "speg", "symbol": "SPEG", "hgnc": "HGNC:16901", "name": "striated muscle enriched protein kinase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/speg" }, { "slug": "spr", "symbol": "SPR", "hgnc": "HGNC:11257", "name": "sepiapterin reductase", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/spr" }, { "slug": "tefm", "symbol": "TEFM", "hgnc": "HGNC:26223", "name": "transcription elongation factor, mitochondrial", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tefm" }, { "slug": "tnr", "symbol": "TNR", "hgnc": "HGNC:11953", "name": "tenascin R", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tnr" }, { "slug": "trex1", "symbol": "TREX1", "hgnc": "HGNC:12269", "name": "three prime repair exonuclease 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/trex1" }, { "slug": "tubgcp2", "symbol": "TUBGCP2", "hgnc": "HGNC:18599", "name": "tubulin gamma complex component 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tubgcp2" }, { "slug": "ugdh", "symbol": "UGDH", "hgnc": "HGNC:12525", "name": "UDP-glucose 6-dehydrogenase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ugdh" }, { "slug": "wdr45b", "symbol": "WDR45B", "hgnc": "HGNC:25072", "name": "WD repeat domain 45B", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/wdr45b" }, { "slug": "wdr73", "symbol": "WDR73", "hgnc": "HGNC:25928", "name": "WD repeat domain 73", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/wdr73" }, { "slug": "wwox", "symbol": "WWOX", "hgnc": "HGNC:12799", "name": "WW domain containing oxidoreductase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/wwox" }, { "slug": "yif1b", "symbol": "YIF1B", "hgnc": "HGNC:30511", "name": "Yip1 interacting factor homolog B, membrane trafficking protein", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/yif1b" }, { "slug": "acsf3", "symbol": "ACSF3", "hgnc": "HGNC:27288", "name": "acyl-CoA synthetase family member 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/acsf3" }, { "slug": "adarb1", "symbol": "ADARB1", "hgnc": "HGNC:226", "name": "adenosine deaminase RNA specific B1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/adarb1" }, { "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": "amfr", "symbol": "AMFR", "hgnc": "HGNC:463", "name": "autocrine motility factor receptor", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/amfr" }, { "slug": "ampd2", "symbol": "AMPD2", "hgnc": "HGNC:469", "name": "adenosine monophosphate deaminase 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ampd2" }, { "slug": "camk2a", "symbol": "CAMK2A", "hgnc": "HGNC:1460", "name": "calcium/calmodulin dependent protein kinase II alpha", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/camk2a" }, { "slug": "camk2b", "symbol": "CAMK2B", "hgnc": "HGNC:1461", "name": "calcium/calmodulin dependent protein kinase II beta", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/camk2b" }, { "slug": "cdon", "symbol": "CDON", "hgnc": "HGNC:17104", "name": "cell adhesion associated, oncogene regulated", "frequency": "occasional", "diseases": 4, "url": "https://dantelabs.com/genes/cdon" }, { "slug": "chmp1a", "symbol": "CHMP1A", "hgnc": "HGNC:8740", "name": "charged multivesicular body protein 1A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/chmp1a" }, { "slug": "creld1", "symbol": "CRELD1", "hgnc": "HGNC:14630", "name": "CRELD disulfide isomerase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/creld1" }, { "slug": "cripto", "symbol": "CRIPTO", "hgnc": "HGNC:11701", "name": "cripto, EGF-CFC family member", "frequency": "occasional", "diseases": 4, "url": "https://dantelabs.com/genes/cripto" }, { "slug": "ddx6", "symbol": "DDX6", "hgnc": "HGNC:2747", "name": "DEAD-box helicase 6", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ddx6" }, { "slug": "disp1", "symbol": "DISP1", "hgnc": "HGNC:19711", "name": "dispatched RND transporter family member 1", "frequency": "occasional", "diseases": 4, "url": "https://dantelabs.com/genes/disp1" }, { "slug": "dll1", "symbol": "DLL1", "hgnc": "HGNC:2908", "name": "delta like canonical Notch ligand 1", "frequency": "occasional", "diseases": 4, "url": "https://dantelabs.com/genes/dll1" }, { "slug": "dnajc12", "symbol": "DNAJC12", "hgnc": "HGNC:28908", "name": "DnaJ heat shock protein family (Hsp40) member C12", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dnajc12" }, { "slug": "dpagt1", "symbol": "DPAGT1", "hgnc": "HGNC:2995", "name": "dolichyl-phosphate N-acetylglucosaminephosphotransferase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dpagt1" }, { "slug": "eif2ak2", "symbol": "EIF2AK2", "hgnc": "HGNC:9437", "name": "eukaryotic translation initiation factor 2 alpha kinase 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/eif2ak2" }, { "slug": "ercc1", "symbol": "ERCC1", "hgnc": "HGNC:3433", "name": "ERCC excision repair 1, endonuclease non-catalytic subunit", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ercc1" }, { "slug": "ercc8", "symbol": "ERCC8", "hgnc": "HGNC:3439", "name": "ERCC excision repair 8, CSA ubiquitin ligase complex subunit", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ercc8" }, { "slug": "fars2", "symbol": "FARS2", "hgnc": "HGNC:21062", "name": "phenylalanyl-tRNA synthetase 2, mitochondrial", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fars2" }, { "slug": "fgf8", "symbol": "FGF8", "hgnc": "HGNC:3686", "name": "fibroblast growth factor 8", "frequency": "occasional", "diseases": 4, "url": "https://dantelabs.com/genes/fgf8" }, { "slug": "fgfr1", "symbol": "FGFR1", "hgnc": "HGNC:3688", "name": "fibroblast growth factor receptor 1", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/fgfr1" }, { "slug": "foxh1", "symbol": "FOXH1", "hgnc": "HGNC:3814", "name": "forkhead box H1", "frequency": "occasional", "diseases": 4, "url": "https://dantelabs.com/genes/foxh1" }, { "slug": "foxp2", "symbol": "FOXP2", "hgnc": "HGNC:13875", "name": "forkhead box P2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/foxp2" }, { "slug": "fth1", "symbol": "FTH1", "hgnc": "HGNC:3976", "name": "ferritin heavy chain 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fth1" }, { "slug": "gas1", "symbol": "GAS1", "hgnc": "HGNC:4165", "name": "growth arrest specific 1", "frequency": "occasional", "diseases": 4, "url": "https://dantelabs.com/genes/gas1" }, { "slug": "gdi1", "symbol": "GDI1", "hgnc": "HGNC:4226", "name": "GDP dissociation inhibitor 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gdi1" }, { "slug": "gli2", "symbol": "GLI2", "hgnc": "HGNC:4318", "name": "GLI family zinc finger 2", "frequency": "occasional", "diseases": 4, "url": "https://dantelabs.com/genes/gli2" }, { "slug": "gnb1", "symbol": "GNB1", "hgnc": "HGNC:4396", "name": "G protein subunit beta 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gnb1" }, { "slug": "gnptab", "symbol": "GNPTAB", "hgnc": "HGNC:29670", "name": "N-acetylglucosamine-1-phosphate transferase subunits alpha and beta", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/gnptab" }, { "slug": "gria3", "symbol": "GRIA3", "hgnc": "HGNC:4573", "name": "glutamate ionotropic receptor AMPA type subunit 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gria3" }, { "slug": "grik2", "symbol": "GRIK2", "hgnc": "HGNC:4580", "name": "glutamate ionotropic receptor kainate type subunit 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/grik2" }, { "slug": "grin2a", "symbol": "GRIN2A", "hgnc": "HGNC:4585", "name": "glutamate ionotropic receptor NMDA type subunit 2A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/grin2a" }, { "slug": "h4c5", "symbol": "H4C5", "hgnc": "HGNC:4790", "name": "H4 clustered histone 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/h4c5" }, { "slug": "hikeshi", "symbol": "HIKESHI", "hgnc": "HGNC:26938", "name": "heat shock protein nuclear import factor hikeshi", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/hikeshi" }, { "slug": "hk1", "symbol": "HK1", "hgnc": "HGNC:4922", "name": "hexokinase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/hk1" }, { "slug": "insr", "symbol": "INSR", "hgnc": "HGNC:6091", "name": "insulin receptor", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/insr" }, { "slug": "kat6a", "symbol": "KAT6A", "hgnc": "HGNC:13013", "name": "lysine acetyltransferase 6A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kat6a" }, { "slug": "kcnq2", "symbol": "KCNQ2", "hgnc": "HGNC:6296", "name": "potassium voltage-gated channel subfamily Q member 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kcnq2" }, { "slug": "kcnq3", "symbol": "KCNQ3", "hgnc": "HGNC:6297", "name": "potassium voltage-gated channel subfamily Q member 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kcnq3" }, { "slug": "lgi3", "symbol": "LGI3", "hgnc": "HGNC:18711", "name": "leucine rich repeat LGI family member 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lgi3" }, { "slug": "lmnb1", "symbol": "LMNB1", "hgnc": "HGNC:6637", "name": "lamin B1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/lmnb1" }, { "slug": "man2b1", "symbol": "MAN2B1", "hgnc": "HGNC:6826", "name": "mannosidase alpha class 2B member 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/man2b1" }, { "slug": "naxd", "symbol": "NAXD", "hgnc": "HGNC:25576", "name": "NAD(P)HX dehydratase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/naxd" }, { "slug": "ndufa6", "symbol": "NDUFA6", "hgnc": "HGNC:7690", "name": "NADH:ubiquinone oxidoreductase subunit A6", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ndufa6" }, { "slug": "nexmif", "symbol": "NEXMIF", "hgnc": "HGNC:29433", "name": "neurite extension and migration factor", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nexmif" }, { "slug": "nodal", "symbol": "NODAL", "hgnc": "HGNC:7865", "name": "nodal growth differentiation factor", "frequency": "occasional", "diseases": 4, "url": "https://dantelabs.com/genes/nodal" }, { "slug": "nsmce3", "symbol": "NSMCE3", "hgnc": "HGNC:7677", "name": "NSE3 component of SMC5/6 complex", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nsmce3" }, { "slug": "pcbd1", "symbol": "PCBD1", "hgnc": "HGNC:8646", "name": "pterin-4 alpha-carbinolamine dehydratase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pcbd1" }, { "slug": "pdhx", "symbol": "PDHX", "hgnc": "HGNC:21350", "name": "pyruvate dehydrogenase complex component X", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pdhx" }, { "slug": "plch1", "symbol": "PLCH1", "hgnc": "HGNC:29185", "name": "phospholipase C eta 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/plch1" }, { "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": "ptch1", "symbol": "PTCH1", "hgnc": "HGNC:9585", "name": "patched 1", "frequency": "occasional", "diseases": 4, "url": "https://dantelabs.com/genes/ptch1" }, { "slug": "rttn", "symbol": "RTTN", "hgnc": "HGNC:18654", "name": "rotatin", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rttn" }, { "slug": "satb1", "symbol": "SATB1", "hgnc": "HGNC:10541", "name": "SATB homeobox 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/satb1" }, { "slug": "sepsecs", "symbol": "SEPSECS", "hgnc": "HGNC:30605", "name": "Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sepsecs" }, { "slug": "set", "symbol": "SET", "hgnc": "HGNC:10760", "name": "SET nuclear proto-oncogene", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/set" }, { "slug": "shh", "symbol": "SHH", "hgnc": "HGNC:10848", "name": "sonic hedgehog signaling molecule", "frequency": "occasional", "diseases": 4, "url": "https://dantelabs.com/genes/shh" }, { "slug": "six3", "symbol": "SIX3", "hgnc": "HGNC:10889", "name": "SIX homeobox 3", "frequency": "occasional", "diseases": 4, "url": "https://dantelabs.com/genes/six3" }, { "slug": "sox4", "symbol": "SOX4", "hgnc": "HGNC:11200", "name": "SRY-box transcription factor 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/sox4" }, { "slug": "stag2", "symbol": "STAG2", "hgnc": "HGNC:11355", "name": "STAG2 cohesin complex component", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/stag2" }, { "slug": "stil", "symbol": "STIL", "hgnc": "HGNC:10879", "name": "STIL centriolar assembly protein", "frequency": "occasional", "diseases": 4, "url": "https://dantelabs.com/genes/stil" }, { "slug": "tbc1d2b", "symbol": "TBC1D2B", "hgnc": "HGNC:29183", "name": "TBC1 domain family member 2B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tbc1d2b" }, { "slug": "tgif1", "symbol": "TGIF1", "hgnc": "HGNC:11776", "name": "TGFB induced factor homeobox 1", "frequency": "occasional", "diseases": 4, "url": "https://dantelabs.com/genes/tgif1" }, { "slug": "tiam1", "symbol": "TIAM1", "hgnc": "HGNC:11805", "name": "TIAM Rac1 associated GEF 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tiam1" }, { "slug": "trmt10a", "symbol": "TRMT10A", "hgnc": "HGNC:28403", "name": "tRNA methyltransferase 10A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/trmt10a" }, { "slug": "tsen15", "symbol": "TSEN15", "hgnc": "HGNC:16791", "name": "tRNA splicing endonuclease subunit 15", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tsen15" }, { "slug": "tsen34", "symbol": "TSEN34", "hgnc": "HGNC:15506", "name": "tRNA splicing endonuclease subunit 34", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tsen34" }, { "slug": "tsen54", "symbol": "TSEN54", "hgnc": "HGNC:27561", "name": "tRNA splicing endonuclease subunit 54", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tsen54" }, { "slug": "vps41", "symbol": "VPS41", "hgnc": "HGNC:12713", "name": "VPS41 subunit of HOPS complex", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/vps41" }, { "slug": "zic2", "symbol": "ZIC2", "hgnc": "HGNC:12873", "name": "Zic family zinc finger 2", "frequency": "occasional", "diseases": 4, "url": "https://dantelabs.com/genes/zic2" }, { "slug": "znf142", "symbol": "ZNF142", "hgnc": "HGNC:12927", "name": "zinc finger protein 142", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/znf142" }, { "slug": "zswim6", "symbol": "ZSWIM6", "hgnc": "HGNC:29316", "name": "zinc finger SWIM-type containing 6", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/zswim6" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "hgnc": "HGNC:403", "name": "aldehyde dehydrogenase 3 family member A2", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/aldh3a2" }, { "slug": "gja5", "symbol": "GJA5", "hgnc": "HGNC:4279", "name": "gap junction protein alpha 5", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/gja5" }, { "slug": "gja8", "symbol": "GJA8", "hgnc": "HGNC:4281", "name": "gap junction protein alpha 8", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/gja8" }, { "slug": "alg3", "symbol": "ALG3", "hgnc": "HGNC:23056", "name": "ALG3 alpha-1,3- mannosyltransferase", "diseases": 1, "url": "https://dantelabs.com/genes/alg3" }, { "slug": "alg6", "symbol": "ALG6", "hgnc": "HGNC:23157", "name": "ALG6 alpha-1,3-glucosyltransferase", "diseases": 1, "url": "https://dantelabs.com/genes/alg6" }, { "slug": "ap4s1", "symbol": "AP4S1", "hgnc": "HGNC:575", "name": "adaptor related protein complex 4 subunit sigma 1", "diseases": 1, "url": "https://dantelabs.com/genes/ap4s1" }, { "slug": "arx", "symbol": "ARX", "hgnc": "HGNC:18060", "name": "aristaless related homeobox", "diseases": 1, "url": "https://dantelabs.com/genes/arx" }, { "slug": "dcx", "symbol": "DCX", "hgnc": "HGNC:2714", "name": "doublecortin", "diseases": 1, "url": "https://dantelabs.com/genes/dcx" }, { "slug": "dennd5a", "symbol": "DENND5A", "hgnc": "HGNC:19344", "name": "DENN domain containing 5A", "diseases": 1, "url": "https://dantelabs.com/genes/dennd5a" }, { "slug": "exosc3", "symbol": "EXOSC3", "hgnc": "HGNC:17944", "name": "exosome component 3", "diseases": 1, "url": "https://dantelabs.com/genes/exosc3" }, { "slug": "gjc2", "symbol": "GJC2", "hgnc": "HGNC:17494", "name": "gap junction protein gamma 2", "diseases": 1, "url": "https://dantelabs.com/genes/gjc2" }, { "slug": "htt", "symbol": "HTT", "hgnc": "HGNC:4851", "name": "huntingtin", "diseases": 1, "url": "https://dantelabs.com/genes/htt" }, { "slug": "ier3ip1", "symbol": "IER3IP1", "hgnc": "HGNC:18550", "name": "immediate early response 3 interacting protein 1", "diseases": 1, "url": "https://dantelabs.com/genes/ier3ip1" }, { "slug": "lipt1", "symbol": "LIPT1", "hgnc": "HGNC:29569", "name": "lipoyltransferase 1", "diseases": 1, "url": "https://dantelabs.com/genes/lipt1" }, { "slug": "mboat7", "symbol": "MBOAT7", "hgnc": "HGNC:15505", "name": "membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7", "diseases": 1, "url": "https://dantelabs.com/genes/mboat7" }, { "slug": "mdh1", "symbol": "MDH1", "hgnc": "HGNC:6970", "name": "malate dehydrogenase 1", "diseases": 1, "url": "https://dantelabs.com/genes/mdh1" }, { "slug": "mrps22", "symbol": "MRPS22", "hgnc": "HGNC:14508", "name": "mitochondrial ribosomal protein S22", "diseases": 1, "url": "https://dantelabs.com/genes/mrps22" }, { "slug": "nsun2", "symbol": "NSUN2", "hgnc": "HGNC:25994", "name": "NOP2/Sun RNA methyltransferase 2", "diseases": 1, "url": "https://dantelabs.com/genes/nsun2" }, { "slug": "ocln", "symbol": "OCLN", "hgnc": "HGNC:8104", "name": "occludin", "diseases": 1, "url": "https://dantelabs.com/genes/ocln" }, { "slug": "pam16", "symbol": "PAM16", "hgnc": "HGNC:29679", "name": "presequence translocase associated motor 16", "diseases": 1, "url": "https://dantelabs.com/genes/pam16" }, { "slug": "pars2", "symbol": "PARS2", "hgnc": "HGNC:30563", "name": "prolyl-tRNA synthetase 2, mitochondrial", "diseases": 1, "url": "https://dantelabs.com/genes/pars2" }, { "slug": "pcca", "symbol": "PCCA", "hgnc": "HGNC:8653", "name": "propionyl-CoA carboxylase subunit alpha", "diseases": 1, "url": "https://dantelabs.com/genes/pcca" }, { "slug": "pccb", "symbol": "PCCB", "hgnc": "HGNC:8654", "name": "propionyl-CoA carboxylase subunit beta", "diseases": 1, "url": "https://dantelabs.com/genes/pccb" }, { "slug": "pcgf2", "symbol": "PCGF2", "hgnc": "HGNC:12929", "name": "polycomb group ring finger 2", "diseases": 1, "url": "https://dantelabs.com/genes/pcgf2" }, { "slug": "pigp", "symbol": "PIGP", "hgnc": "HGNC:3046", "name": "phosphatidylinositol glycan anchor biosynthesis class P", "diseases": 1, "url": "https://dantelabs.com/genes/pigp" }, { "slug": "pik3r2", "symbol": "PIK3R2", "hgnc": "HGNC:8980", "name": "phosphoinositide-3-kinase regulatory subunit 2", "diseases": 1, "url": "https://dantelabs.com/genes/pik3r2" }, { "slug": "pts", "symbol": "PTS", "hgnc": "HGNC:9689", "name": "6-pyruvoyltetrahydropterin synthase", "diseases": 1, "url": "https://dantelabs.com/genes/pts" }, { "slug": "pycr2", "symbol": "PYCR2", "hgnc": "HGNC:30262", "name": "pyrroline-5-carboxylate reductase 2", "diseases": 1, "url": "https://dantelabs.com/genes/pycr2" }, { "slug": "rab3gap2", "symbol": "RAB3GAP2", "hgnc": "HGNC:17168", "name": "RAB3 GTPase activating non-catalytic protein subunit 2", "diseases": 1, "url": "https://dantelabs.com/genes/rab3gap2" }, { "slug": "slc19a3", "symbol": "SLC19A3", "hgnc": "HGNC:16266", "name": "solute carrier family 19 member 3", "diseases": 1, "url": "https://dantelabs.com/genes/slc19a3" }, { "slug": "slc6a9", "symbol": "SLC6A9", "hgnc": "HGNC:11056", "name": "solute carrier family 6 member 9", "diseases": 1, "url": "https://dantelabs.com/genes/slc6a9" }, { "slug": "sox10", "symbol": "SOX10", "hgnc": "HGNC:11190", "name": "SRY-box transcription factor 10", "diseases": 1, "url": "https://dantelabs.com/genes/sox10" }, { "slug": "th", "symbol": "TH", "hgnc": "HGNC:11782", "name": "tyrosine hydroxylase", "diseases": 1, "url": "https://dantelabs.com/genes/th" }, { "slug": "trnt1", "symbol": "TRNT1", "hgnc": "HGNC:17341", "name": "tRNA nucleotidyl transferase 1", "diseases": 1, "url": "https://dantelabs.com/genes/trnt1" }, { "slug": "tubb4a", "symbol": "TUBB4A", "hgnc": "HGNC:20774", "name": "tubulin beta 4A class IVa", "diseases": 1, "url": "https://dantelabs.com/genes/tubb4a" }, { "slug": "vps11", "symbol": "VPS11", "hgnc": "HGNC:14583", "name": "VPS11 core subunit of CORVET and HOPS complexes", "diseases": 1, "url": "https://dantelabs.com/genes/vps11" }, { "slug": "vps13d", "symbol": "VPS13D", "hgnc": "HGNC:23595", "name": "vacuolar protein sorting 13 homolog D", "diseases": 1, "url": "https://dantelabs.com/genes/vps13d" } ] } }