{ "url": "https://dantelabs.com/traits/reduced-visual-acuity", "trait": { "bundleId": "2026.10.17-8666dff2", "release": "2026-09-01", "slug": "reduced-visual-acuity", "id": "HP:0007663", "name": "Decreased clarity of vision", "label": "Reduced visual acuity", "synonyms": [ "Decreased central vision", "Decreased visual acuity", "Poor visual acuity" ], "systems": [ { "slug": "abnormality-of-the-eye", "name": "Abnormality of the eye", "url": "https://dantelabs.com/traits/abnormality-of-the-eye" } ], "broader": [ { "slug": "visual-impairment", "name": "Visual impairment", "url": "https://dantelabs.com/traits/visual-impairment" } ], "narrower": [ { "slug": "blindness", "name": "Blindness", "genes": 311, "url": "https://dantelabs.com/traits/blindness" }, { "slug": "amblyopia", "name": "Lazy eye", "genes": 126, "url": "https://dantelabs.com/traits/amblyopia" }, { "slug": "severely-reduced-visual-acuity", "name": "Marked vision impairment", "genes": 55, "url": "https://dantelabs.com/traits/severely-reduced-visual-acuity" }, { "slug": "moderately-reduced-visual-acuity", "name": "Moderate visual impairment", "genes": 15, "url": "https://dantelabs.com/traits/moderately-reduced-visual-acuity" }, { "slug": "visual-acuity-test-abnormality", "name": "Visual acuity test abnormality", "genes": 12, "url": "https://dantelabs.com/traits/visual-acuity-test-abnormality" }, { "slug": "mildly-reduced-visual-acuity", "name": "Mildly reduced visual acuity", "genes": 10, "url": "https://dantelabs.com/traits/mildly-reduced-visual-acuity" }, { "slug": "very-low-visual-acuity", "name": "Very low visual acuity", "genes": 6, "url": "https://dantelabs.com/traits/very-low-visual-acuity" }, { "slug": "sudden-loss-of-visual-acuity", "name": "Sudden decrease in vision", "genes": 5, "url": "https://dantelabs.com/traits/sudden-loss-of-visual-acuity" }, { "slug": "ultra-low-vision", "name": "Ultra-low vision", "genes": 2, "url": "https://dantelabs.com/traits/ultra-low-vision" } ], "genes": [ { "slug": "abca4", "symbol": "ABCA4", "hgnc": "HGNC:34", "name": "ATP binding cassette subfamily A member 4", "frequency": "obligate", "diseases": 4, "url": "https://dantelabs.com/genes/abca4" }, { "slug": "aco2", "symbol": "ACO2", "hgnc": "HGNC:118", "name": "aconitase 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/aco2" }, { "slug": "ahr", "symbol": "AHR", "hgnc": "HGNC:348", "name": "aryl hydrocarbon receptor", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/ahr" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "hgnc": "HGNC:403", "name": "aldehyde dehydrogenase 3 family member A2", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/aldh3a2" }, { "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": "arhgef18", "symbol": "ARHGEF18", "hgnc": "HGNC:17090", "name": "Rho/Rac guanine nucleotide exchange factor 18", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/arhgef18" }, { "slug": "arl2", "symbol": "ARL2", "hgnc": "HGNC:693", "name": "ARF like GTPase 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/arl2" }, { "slug": "arl2bp", "symbol": "ARL2BP", "hgnc": "HGNC:17146", "name": "ARF like GTPase 2 binding protein", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/arl2bp" }, { "slug": "arl3", "symbol": "ARL3", "hgnc": "HGNC:694", "name": "ARF like GTPase 3", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/arl3" }, { "slug": "arl6", "symbol": "ARL6", "hgnc": "HGNC:13210", "name": "ARF like GTPase 6", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/arl6" }, { "slug": "atf6", "symbol": "ATF6", "hgnc": "HGNC:791", "name": "activating transcription factor 6", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/atf6" }, { "slug": "bbs1", "symbol": "BBS1", "hgnc": "HGNC:966", "name": "Bardet-Biedl syndrome 1", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/bbs1" }, { "slug": "bbs2", "symbol": "BBS2", "hgnc": "HGNC:967", "name": "Bardet-Biedl syndrome 2", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/bbs2" }, { "slug": "bbs5", "symbol": "BBS5", "hgnc": "HGNC:970", "name": "Bardet-Biedl syndrome 5", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/bbs5" }, { "slug": "bloc1s3", "symbol": "BLOC1S3", "hgnc": "HGNC:20914", "name": "biogenesis of lysosomal organelles complex 1 subunit 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/bloc1s3" }, { "slug": "bloc1s5", "symbol": "BLOC1S5", "hgnc": "HGNC:18561", "name": "biogenesis of lysosomal organelles complex 1 subunit 5", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/bloc1s5" }, { "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": "cacna1f", "symbol": "CACNA1F", "hgnc": "HGNC:1393", "name": "calcium voltage-gated channel subunit alpha1 F", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/cacna1f" }, { "slug": "cc2d2a", "symbol": "CC2D2A", "hgnc": "HGNC:29253", "name": "coiled-coil and C2 domain containing 2A", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/cc2d2a" }, { "slug": "ccdc28b", "symbol": "CCDC28B", "hgnc": "HGNC:28163", "name": "coiled-coil domain containing 28B", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ccdc28b" }, { "slug": "cdh3", "symbol": "CDH3", "hgnc": "HGNC:1762", "name": "cadherin 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/cdh3" }, { "slug": "cep250", "symbol": "CEP250", "hgnc": "HGNC:1859", "name": "centrosomal protein 250", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/cep250" }, { "slug": "cep290", "symbol": "CEP290", "hgnc": "HGNC:29021", "name": "centrosomal protein 290", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/cep290" }, { "slug": "chrdl1", "symbol": "CHRDL1", "hgnc": "HGNC:29861", "name": "chordin like 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/chrdl1" }, { "slug": "cln3", "symbol": "CLN3", "hgnc": "HGNC:2074", "name": "CLN3 lysosomal/endosomal transmembrane protein, battenin", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/cln3" }, { "slug": "clrn1", "symbol": "CLRN1", "hgnc": "HGNC:12605", "name": "clarin 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/clrn1" }, { "slug": "cnga1", "symbol": "CNGA1", "hgnc": "HGNC:2148", "name": "cyclic nucleotide gated channel subunit alpha 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/cnga1" }, { "slug": "cnga3", "symbol": "CNGA3", "hgnc": "HGNC:2150", "name": "cyclic nucleotide gated channel subunit alpha 3", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/cnga3" }, { "slug": "cngb3", "symbol": "CNGB3", "hgnc": "HGNC:2153", "name": "cyclic nucleotide gated channel subunit beta 3", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/cngb3" }, { "slug": "crb1", "symbol": "CRB1", "hgnc": "HGNC:2343", "name": "crumbs cell polarity complex component 1", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/crb1" }, { "slug": "crx", "symbol": "CRX", "hgnc": "HGNC:2383", "name": "cone-rod homeobox", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/crx" }, { "slug": "dct", "symbol": "DCT", "hgnc": "HGNC:2709", "name": "dopachrome tautomerase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/dct" }, { "slug": "dhdds", "symbol": "DHDDS", "hgnc": "HGNC:20603", "name": "dehydrodolichyl diphosphate synthase subunit", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/dhdds" }, { "slug": "dna2", "symbol": "DNA2", "hgnc": "HGNC:2939", "name": "DNA replication helicase/nuclease 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/dna2" }, { "slug": "dtnbp1", "symbol": "DTNBP1", "hgnc": "HGNC:17328", "name": "dystrobrevin binding protein 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/dtnbp1" }, { "slug": "ebp", "symbol": "EBP", "hgnc": "HGNC:3133", "name": "EBP cholestenol delta-isomerase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ebp" }, { "slug": "elovl4", "symbol": "ELOVL4", "hgnc": "HGNC:14415", "name": "ELOVL fatty acid elongase 4", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/elovl4" }, { "slug": "epg5", "symbol": "EPG5", "hgnc": "HGNC:29331", "name": "ectopic P-granules 5 autophagy tethering factor", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/epg5" }, { "slug": "fbn1", "symbol": "FBN1", "hgnc": "HGNC:3603", "name": "fibrillin 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/fbn1" }, { "slug": "fdxr", "symbol": "FDXR", "hgnc": "HGNC:3642", "name": "ferredoxin reductase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/fdxr" }, { "slug": "foxe3", "symbol": "FOXE3", "hgnc": "HGNC:3808", "name": "forkhead box E3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/foxe3" }, { "slug": "fsd1l", "symbol": "FSD1L", "hgnc": "HGNC:13753", "name": "fibronectin type III and SPRY domain containing 1 like", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/fsd1l" }, { "slug": "gpr143", "symbol": "GPR143", "hgnc": "HGNC:20145", "name": "G protein-coupled receptor 143", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/gpr143" }, { "slug": "gucy2d", "symbol": "GUCY2D", "hgnc": "HGNC:4689", "name": "guanylate cyclase 2D, retinal", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/gucy2d" }, { "slug": "hps3", "symbol": "HPS3", "hgnc": "HGNC:15597", "name": "HPS3 biogenesis of lysosomal organelles complex 2 subunit 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/hps3" }, { "slug": "hps4", "symbol": "HPS4", "hgnc": "HGNC:15844", "name": "HPS4 biogenesis of lysosomal organelles complex 3 subunit 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/hps4" }, { "slug": "hps5", "symbol": "HPS5", "hgnc": "HGNC:17022", "name": "HPS5 biogenesis of lysosomal organelles complex 2 subunit 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/hps5" }, { "slug": "hps6", "symbol": "HPS6", "hgnc": "HGNC:18817", "name": "HPS6 biogenesis of lysosomal organelles complex 2 subunit 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/hps6" }, { "slug": "impdh1", "symbol": "IMPDH1", "hgnc": "HGNC:6052", "name": "inosine monophosphate dehydrogenase 1", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/impdh1" }, { "slug": "impg2", "symbol": "IMPG2", "hgnc": "HGNC:18362", "name": "interphotoreceptor matrix proteoglycan 2", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/impg2" }, { "slug": "inpp4a", "symbol": "INPP4A", "hgnc": "HGNC:6074", "name": "inositol polyphosphate-4-phosphatase type I A", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/inpp4a" }, { "slug": "itm2b", "symbol": "ITM2B", "hgnc": "HGNC:6174", "name": "integral membrane protein 2B", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/itm2b" }, { "slug": "itpr1", "symbol": "ITPR1", "hgnc": "HGNC:6180", "name": "inositol 1,4,5-trisphosphate receptor type 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/itpr1" }, { "slug": "kcnj13", "symbol": "KCNJ13", "hgnc": "HGNC:6259", "name": "potassium inwardly rectifying channel subfamily J member 13", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/kcnj13" }, { "slug": "kera", "symbol": "KERA", "hgnc": "HGNC:6309", "name": "keratocan", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/kera" }, { "slug": "klc4", "symbol": "KLC4", "hgnc": "HGNC:21624", "name": "kinesin light chain 4", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/klc4" }, { "slug": "klhl7", "symbol": "KLHL7", "hgnc": "HGNC:15646", "name": "kelch like family member 7", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/klhl7" }, { "slug": "lamb2", "symbol": "LAMB2", "hgnc": "HGNC:6487", "name": "laminin subunit beta 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/lamb2" }, { "slug": "lim2", "symbol": "LIM2", "hgnc": "HGNC:6610", "name": "lens intrinsic membrane protein 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/lim2" }, { "slug": "lrit3", "symbol": "LRIT3", "hgnc": "HGNC:24783", "name": "leucine rich repeat, Ig-like and transmembrane domains 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/lrit3" }, { "slug": "lrmda", "symbol": "LRMDA", "hgnc": "HGNC:23405", "name": "leucine rich melanocyte differentiation associated", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/lrmda" }, { "slug": "lrp5", "symbol": "LRP5", "hgnc": "HGNC:6697", "name": "LDL receptor related protein 5", "frequency": "obligate", "diseases": 5, "url": "https://dantelabs.com/genes/lrp5" }, { "slug": "mag", "symbol": "MAG", "hgnc": "HGNC:6783", "name": "myelin associated glycoprotein", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/mag" }, { "slug": "mak", "symbol": "MAK", "hgnc": "HGNC:6816", "name": "male germ cell associated kinase", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/mak" }, { "slug": "mark3", "symbol": "MARK3", "hgnc": "HGNC:6897", "name": "microtubule affinity regulating kinase 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/mark3" }, { "slug": "mcat", "symbol": "MCAT", "hgnc": "HGNC:29622", "name": "malonyl-CoA-acyl carrier protein transacylase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/mcat" }, { "slug": "mfrp", "symbol": "MFRP", "hgnc": "HGNC:18121", "name": "membrane frizzled-related protein", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/mfrp" }, { "slug": "mfsd8", "symbol": "MFSD8", "hgnc": "HGNC:28486", "name": "major facilitator superfamily domain containing 8", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/mfsd8" }, { "slug": "mief1", "symbol": "MIEF1", "hgnc": "HGNC:25979", "name": "mitochondrial elongation factor 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/mief1" }, { "slug": "mtrfr", "symbol": "MTRFR", "hgnc": "HGNC:26784", "name": "mitochondrial translation release factor in rescue", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/mtrfr" }, { "slug": "ndp", "symbol": "NDP", "hgnc": "HGNC:7678", "name": "norrin cystine knot growth factor NDP", "frequency": "obligate", "diseases": 4, "url": "https://dantelabs.com/genes/ndp" }, { "slug": "nmnat1", "symbol": "NMNAT1", "hgnc": "HGNC:17877", "name": "nicotinamide nucleotide adenylyltransferase 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/nmnat1" }, { "slug": "nr2e3", "symbol": "NR2E3", "hgnc": "HGNC:7974", "name": "nuclear receptor subfamily 2 group E member 3", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/nr2e3" }, { "slug": "nr2f1", "symbol": "NR2F1", "hgnc": "HGNC:7975", "name": "nuclear receptor subfamily 2 group F member 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/nr2f1" }, { "slug": "nrl", "symbol": "NRL", "hgnc": "HGNC:8002", "name": "neural retina leucine zipper", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/nrl" }, { "slug": "pank4", "symbol": "PANK4", "hgnc": "HGNC:19366", "name": "pantothenate kinase 4 (inactive)", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pank4" }, { "slug": "pax2", "symbol": "PAX2", "hgnc": "HGNC:8616", "name": "paired box 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pax2" }, { "slug": "pax6", "symbol": "PAX6", "hgnc": "HGNC:8620", "name": "paired box 6", "frequency": "obligate", "diseases": 5, "url": "https://dantelabs.com/genes/pax6" }, { "slug": "pcyt2", "symbol": "PCYT2", "hgnc": "HGNC:8756", "name": "phosphate cytidylyltransferase 2, ethanolamine", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pcyt2" }, { "slug": "pde6c", "symbol": "PDE6C", "hgnc": "HGNC:8787", "name": "phosphodiesterase 6C", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/pde6c" }, { "slug": "pde6g", "symbol": "PDE6G", "hgnc": "HGNC:8789", "name": "phosphodiesterase 6G", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/pde6g" }, { "slug": "pde6h", "symbol": "PDE6H", "hgnc": "HGNC:8790", "name": "phosphodiesterase 6H", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/pde6h" }, { "slug": "pdxk", "symbol": "PDXK", "hgnc": "HGNC:8819", "name": "pyridoxal kinase", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pdxk" }, { "slug": "pex7", "symbol": "PEX7", "hgnc": "HGNC:8860", "name": "peroxisomal biogenesis factor 7", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pex7" }, { "slug": "poc1b", "symbol": "POC1B", "hgnc": "HGNC:30836", "name": "POC1 centriolar protein B", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/poc1b" }, { "slug": "pomgnt1", "symbol": "POMGNT1", "hgnc": "HGNC:19139", "name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/pomgnt1" }, { "slug": "prom1", "symbol": "PROM1", "hgnc": "HGNC:9454", "name": "prominin 1", "frequency": "obligate", "diseases": 5, "url": "https://dantelabs.com/genes/prom1" }, { "slug": "prpf4", "symbol": "PRPF4", "hgnc": "HGNC:17349", "name": "pre-mRNA splicing tri-snRNP complex factor PRPF4", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/prpf4" }, { "slug": "prpf6", "symbol": "PRPF6", "hgnc": "HGNC:15860", "name": "pre-mRNA processing factor 6", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/prpf6" }, { "slug": "prph2", "symbol": "PRPH2", "hgnc": "HGNC:9942", "name": "peripherin 2", "frequency": "obligate", "diseases": 6, "url": "https://dantelabs.com/genes/prph2" }, { "slug": "pxdn", "symbol": "PXDN", "hgnc": "HGNC:14966", "name": "peroxidasin", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/pxdn" }, { "slug": "rab28", "symbol": "RAB28", "hgnc": "HGNC:9768", "name": "RAB28, member RAS oncogene family", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rab28" }, { "slug": "rab3a", "symbol": "RAB3A", "hgnc": "HGNC:9777", "name": "RAB3A, member RAS oncogene family", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rab3a" }, { "slug": "rax2", "symbol": "RAX2", "hgnc": "HGNC:18286", "name": "retina and anterior neural fold homeobox 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rax2" }, { "slug": "rbp3", "symbol": "RBP3", "hgnc": "HGNC:9921", "name": "retinol binding protein 3", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/rbp3" }, { "slug": "rbp4", "symbol": "RBP4", "hgnc": "HGNC:9922", "name": "retinol binding protein 4", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rbp4" }, { "slug": "reep6", "symbol": "REEP6", "hgnc": "HGNC:30078", "name": "receptor accessory protein 6", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/reep6" }, { "slug": "rft1", "symbol": "RFT1", "hgnc": "HGNC:30220", "name": "RFT1 glycolipid translocator homolog", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rft1" }, { "slug": "rgs9", "symbol": "RGS9", "hgnc": "HGNC:10004", "name": "regulator of G protein signaling 9", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rgs9" }, { "slug": "rgs9bp", "symbol": "RGS9BP", "hgnc": "HGNC:30304", "name": "regulator of G protein signaling 9 binding protein", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rgs9bp" }, { "slug": "rho", "symbol": "RHO", "hgnc": "HGNC:10012", "name": "rhodopsin", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/rho" }, { "slug": "rims2", "symbol": "RIMS2", "hgnc": "HGNC:17283", "name": "regulating synaptic membrane exocytosis 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rims2" }, { "slug": "rlbp1", "symbol": "RLBP1", "hgnc": "HGNC:10024", "name": "retinaldehyde binding protein 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/rlbp1" }, { "slug": "rp1l1", "symbol": "RP1L1", "hgnc": "HGNC:15946", "name": "RP1 like 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/rp1l1" }, { "slug": "rpe65", "symbol": "RPE65", "hgnc": "HGNC:10294", "name": "retinoid isomerohydrolase RPE65", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/rpe65" }, { "slug": "rpgr", "symbol": "RPGR", "hgnc": "HGNC:10295", "name": "retinitis pigmentosa GTPase regulator", "frequency": "obligate", "diseases": 5, "url": "https://dantelabs.com/genes/rpgr" }, { "slug": "rpgrip1", "symbol": "RPGRIP1", "hgnc": "HGNC:13436", "name": "RPGR interacting protein 1", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/rpgrip1" }, { "slug": "rtn4ip1", "symbol": "RTN4IP1", "hgnc": "HGNC:18647", "name": "reticulon 4 interacting protein 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/rtn4ip1" }, { "slug": "sall2", "symbol": "SALL2", "hgnc": "HGNC:10526", "name": "spalt like transcription factor 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/sall2" }, { "slug": "scaper", "symbol": "SCAPER", "hgnc": "HGNC:13081", "name": "S-phase cyclin A associated protein in the ER", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/scaper" }, { "slug": "sco2", "symbol": "SCO2", "hgnc": "HGNC:10604", "name": "synthesis of cytochrome C oxidase 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/sco2" }, { "slug": "sdccag8", "symbol": "SDCCAG8", "hgnc": "HGNC:10671", "name": "SHH signaling and ciliogenesis regulator SDCCAG8", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/sdccag8" }, { "slug": "slc24a5", "symbol": "SLC24A5", "hgnc": "HGNC:20611", "name": "solute carrier family 24 member 5", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/slc24a5" }, { "slug": "slc38a8", "symbol": "SLC38A8", "hgnc": "HGNC:32434", "name": "solute carrier family 38 member 8", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/slc38a8" }, { "slug": "slc4a2", "symbol": "SLC4A2", "hgnc": "HGNC:11028", "name": "solute carrier family 4 member 2", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/slc4a2" }, { "slug": "slc7a14", "symbol": "SLC7A14", "hgnc": "HGNC:29326", "name": "solute carrier family 7 member 14", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/slc7a14" }, { "slug": "tbc1d32", "symbol": "TBC1D32", "hgnc": "HGNC:21485", "name": "TBC1 domain family member 32", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/tbc1d32" }, { "slug": "tenm3", "symbol": "TENM3", "hgnc": "HGNC:29944", "name": "teneurin transmembrane protein 3", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/tenm3" }, { "slug": "tgfbi", "symbol": "TGFBI", "hgnc": "HGNC:11771", "name": "transforming growth factor beta induced", "frequency": "obligate", "diseases": 6, "url": "https://dantelabs.com/genes/tgfbi" }, { "slug": "tlcd3b", "symbol": "TLCD3B", "hgnc": "HGNC:25295", "name": "TLC domain containing 3B", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/tlcd3b" }, { "slug": "tmem216", "symbol": "TMEM216", "hgnc": "HGNC:25018", "name": "transmembrane protein 216", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/tmem216" }, { "slug": "tmem98", "symbol": "TMEM98", "hgnc": "HGNC:24529", "name": "transmembrane protein 98", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/tmem98" }, { "slug": "tomm7", "symbol": "TOMM7", "hgnc": "HGNC:21648", "name": "translocase of outer mitochondrial membrane 7", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/tomm7" }, { "slug": "trim44", "symbol": "TRIM44", "hgnc": "HGNC:19016", "name": "TRIM family member 44", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/trim44" }, { "slug": "trpm1", "symbol": "TRPM1", "hgnc": "HGNC:7146", "name": "transient receptor potential cation channel subfamily M member 1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/trpm1" }, { "slug": "ttc8", "symbol": "TTC8", "hgnc": "HGNC:20087", "name": "tetratricopeptide repeat domain 8", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/ttc8" }, { "slug": "ttll5", "symbol": "TTLL5", "hgnc": "HGNC:19963", "name": "tubulin tyrosine ligase like 5", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/ttll5" }, { "slug": "tub", "symbol": "TUB", "hgnc": "HGNC:12406", "name": "TUB bipartite transcription factor", "frequency": "obligate", "diseases": 2, "url": "https://dantelabs.com/genes/tub" }, { "slug": "tuba3d", "symbol": "TUBA3D", "hgnc": "HGNC:24071", "name": "tubulin alpha 3d", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/tuba3d" }, { "slug": "tubb4b", "symbol": "TUBB4B", "hgnc": "HGNC:20771", "name": "tubulin beta 4B class IVb", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/tubb4b" }, { "slug": "tulp1", "symbol": "TULP1", "hgnc": "HGNC:12423", "name": "TUB like protein 1", "frequency": "obligate", "diseases": 3, "url": "https://dantelabs.com/genes/tulp1" }, { "slug": "uchl1", "symbol": "UCHL1", "hgnc": "HGNC:12513", "name": "ubiquitin C-terminal hydrolase L1", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/uchl1" }, { "slug": "vwa8", "symbol": "VWA8", "hgnc": "HGNC:29071", "name": "von Willebrand factor A domain containing 8", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/vwa8" }, { "slug": "wfs1", "symbol": "WFS1", "hgnc": "HGNC:12762", "name": "wolframin ER transmembrane glycoprotein", "frequency": "obligate", "diseases": 1, "url": "https://dantelabs.com/genes/wfs1" }, { "slug": "zeb1", "symbol": "ZEB1", "hgnc": "HGNC:11642", "name": "zinc finger E-box binding homeobox 1", "frequency": "obligate", "diseases": 4, "url": "https://dantelabs.com/genes/zeb1" }, { "slug": "znf408", "symbol": "ZNF408", "hgnc": "HGNC:20041", "name": "zinc finger protein 408", "frequency": "obligate", "diseases": 4, "url": "https://dantelabs.com/genes/znf408" }, { "slug": "afg3l2", "symbol": "AFG3L2", "hgnc": "HGNC:315", "name": "AFG3 like matrix AAA peptidase subunit 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/afg3l2" }, { "slug": "agbl1", "symbol": "AGBL1", "hgnc": "HGNC:26504", "name": "AGBL carboxypeptidase 1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/agbl1" }, { "slug": "aire", "symbol": "AIRE", "hgnc": "HGNC:360", "name": "autoimmune regulator", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/aire" }, { "slug": "atoh7", "symbol": "ATOH7", "hgnc": "HGNC:13907", "name": "atonal bHLH transcription factor 7", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/atoh7" }, { "slug": "col8a2", "symbol": "COL8A2", "hgnc": "HGNC:2216", "name": "collagen type VIII alpha 2 chain", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/col8a2" }, { "slug": "cyp4v2", "symbol": "CYP4V2", "hgnc": "HGNC:23198", "name": "cytochrome P450 family 4 subfamily V member 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cyp4v2" }, { "slug": "dnmbp", "symbol": "DNMBP", "hgnc": "HGNC:30373", "name": "dynamin binding protein", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/dnmbp" }, { "slug": "foxc1", "symbol": "FOXC1", "hgnc": "HGNC:3800", "name": "forkhead box C1", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/foxc1" }, { "slug": "fzd4", "symbol": "FZD4", "hgnc": "HGNC:4042", "name": "frizzled class receptor 4", "frequency": "very-frequent", "diseases": 4, "url": "https://dantelabs.com/genes/fzd4" }, { "slug": "opa3", "symbol": "OPA3", "hgnc": "HGNC:8142", "name": "outer mitochondrial membrane lipid metabolism regulator OPA3", "frequency": "very-frequent", "diseases": 3, "url": "https://dantelabs.com/genes/opa3" }, { "slug": "pcyt1a", "symbol": "PCYT1A", "hgnc": "HGNC:8754", "name": "phosphate cytidylyltransferase 1A, choline", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pcyt1a" }, { "slug": "rp1", "symbol": "RP1", "hgnc": "HGNC:10263", "name": "RP1 axonemal microtubule associated", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/rp1" }, { "slug": "sag", "symbol": "SAG", "hgnc": "HGNC:10521", "name": "S-antigen visual arrestin", "frequency": "very-frequent", "diseases": 2, "url": "https://dantelabs.com/genes/sag" }, { "slug": "samd7", "symbol": "SAMD7", "hgnc": "HGNC:25394", "name": "sterile alpha motif domain containing 7", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/samd7" }, { "slug": "slc45a2", "symbol": "SLC45A2", "hgnc": "HGNC:16472", "name": "solute carrier family 45 member 2", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/slc45a2" }, { "slug": "slc4a11", "symbol": "SLC4A11", "hgnc": "HGNC:16438", "name": "solute carrier family 4 member 11", "frequency": "very-frequent", "diseases": 3, "url": "https://dantelabs.com/genes/slc4a11" }, { "slug": "tcf4", "symbol": "TCF4", "hgnc": "HGNC:11634", "name": "transcription factor 4", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tcf4" }, { "slug": "ubap1l", "symbol": "UBAP1L", "hgnc": "HGNC:40028", "name": "ubiquitin associated protein 1 like", "frequency": "very-frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ubap1l" }, { "slug": "adgrv1", "symbol": "ADGRV1", "hgnc": "HGNC:17416", "name": "adhesion G protein-coupled receptor V1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/adgrv1" }, { "slug": "alms1", "symbol": "ALMS1", "hgnc": "HGNC:428", "name": "ALMS1 centrosome and basal body associated protein", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/alms1" }, { "slug": "asph", "symbol": "ASPH", "hgnc": "HGNC:757", "name": "aspartate beta-hydroxylase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/asph" }, { "slug": "atxn7", "symbol": "ATXN7", "hgnc": "HGNC:10560", "name": "ataxin 7", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/atxn7" }, { "slug": "bbip1", "symbol": "BBIP1", "hgnc": "HGNC:28093", "name": "BBSome interacting protein 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bbip1" }, { "slug": "bbs10", "symbol": "BBS10", "hgnc": "HGNC:26291", "name": "Bardet-Biedl syndrome 10", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bbs10" }, { "slug": "bbs12", "symbol": "BBS12", "hgnc": "HGNC:26648", "name": "Bardet-Biedl syndrome 12", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bbs12" }, { "slug": "bbs4", "symbol": "BBS4", "hgnc": "HGNC:969", "name": "Bardet-Biedl syndrome 4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bbs4" }, { "slug": "bbs7", "symbol": "BBS7", "hgnc": "HGNC:18758", "name": "Bardet-Biedl syndrome 7", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bbs7" }, { "slug": "bbs9", "symbol": "BBS9", "hgnc": "HGNC:30000", "name": "Bardet-Biedl syndrome 9", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/bbs9" }, { "slug": "cabp4", "symbol": "CABP4", "hgnc": "HGNC:1386", "name": "calcium binding protein 4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cabp4" }, { "slug": "cdh23", "symbol": "CDH23", "hgnc": "HGNC:13733", "name": "cadherin related 23", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cdh23" }, { "slug": "cep19", "symbol": "CEP19", "hgnc": "HGNC:28209", "name": "centrosomal protein 19", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cep19" }, { "slug": "cfap410", "symbol": "CFAP410", "hgnc": "HGNC:1260", "name": "cilia and flagella associated protein 410", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/cfap410" }, { "slug": "cfap418", "symbol": "CFAP418", "hgnc": "HGNC:27232", "name": "cilia and flagella associated protein 418", "frequency": "frequent", "diseases": 3, "url": "https://dantelabs.com/genes/cfap418" }, { "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": "clcn7", "symbol": "CLCN7", "hgnc": "HGNC:2025", "name": "Cl-/H+ antiporter 7", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/clcn7" }, { "slug": "clec3b", "symbol": "CLEC3B", "hgnc": "HGNC:11891", "name": "C-type lectin domain family 3 member B", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/clec3b" }, { "slug": "ctnna1", "symbol": "CTNNA1", "hgnc": "HGNC:2509", "name": "catenin alpha 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ctnna1" }, { "slug": "ctnnb1", "symbol": "CTNNB1", "hgnc": "HGNC:2514", "name": "catenin beta 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ctnnb1" }, { "slug": "espn", "symbol": "ESPN", "hgnc": "HGNC:13281", "name": "espin", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/espn" }, { "slug": "fzd5", "symbol": "FZD5", "hgnc": "HGNC:4043", "name": "frizzled class receptor 5", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/fzd5" }, { "slug": "gnat2", "symbol": "GNAT2", "hgnc": "HGNC:4394", "name": "G protein subunit alpha transducin 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gnat2" }, { "slug": "gsn", "symbol": "GSN", "hgnc": "HGNC:4620", "name": "gelsolin", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/gsn" }, { "slug": "guca1a", "symbol": "GUCA1A", "hgnc": "HGNC:4678", "name": "guanylate cyclase activator 1A", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/guca1a" }, { "slug": "h4c9", "symbol": "H4C9", "hgnc": "HGNC:4793", "name": "H4 clustered histone 9", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/h4c9" }, { "slug": "hgsnat", "symbol": "HGSNAT", "hgnc": "HGNC:26527", "name": "heparan-alpha-glucosaminide N-acetyltransferase", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/hgsnat" }, { "slug": "ift172", "symbol": "IFT172", "hgnc": "HGNC:30391", "name": "intraflagellar transport 172", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ift172" }, { "slug": "ift27", "symbol": "IFT27", "hgnc": "HGNC:18626", "name": "intraflagellar transport 27", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ift27" }, { "slug": "ift74", "symbol": "IFT74", "hgnc": "HGNC:21424", "name": "intraflagellar transport 74", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ift74" }, { "slug": "kidins220", "symbol": "KIDINS220", "hgnc": "HGNC:29508", "name": "kinase D interacting substrate 220", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/kidins220" }, { "slug": "kiz", "symbol": "KIZ", "hgnc": "HGNC:15865", "name": "kizuna centrosomal protein", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/kiz" }, { "slug": "lamp2", "symbol": "LAMP2", "hgnc": "HGNC:6501", "name": "lysosome associated membrane protein 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/lamp2" }, { "slug": "lca5", "symbol": "LCA5", "hgnc": "HGNC:31923", "name": "lebercilin LCA5", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/lca5" }, { "slug": "lrat", "symbol": "LRAT", "hgnc": "HGNC:6685", "name": "lecithin retinol acyltransferase", "frequency": "frequent", "diseases": 3, "url": "https://dantelabs.com/genes/lrat" }, { "slug": "lyst", "symbol": "LYST", "hgnc": "HGNC:1968", "name": "lysosomal trafficking regulator", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/lyst" }, { "slug": "lztfl1", "symbol": "LZTFL1", "hgnc": "HGNC:6741", "name": "leucine zipper transcription factor like 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/lztfl1" }, { "slug": "mc1r", "symbol": "MC1R", "hgnc": "HGNC:6929", "name": "melanocortin 1 receptor", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/mc1r" }, { "slug": "mecr", "symbol": "MECR", "hgnc": "HGNC:19691", "name": "mitochondrial trans-2-enoyl-CoA reductase", "frequency": "frequent", "diseases": 3, "url": "https://dantelabs.com/genes/mecr" }, { "slug": "mkks", "symbol": "MKKS", "hgnc": "HGNC:7108", "name": "MKKS centrosomal shuttling protein", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mkks" }, { "slug": "mks1", "symbol": "MKS1", "hgnc": "HGNC:7121", "name": "MKS transition zone complex subunit 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mks1" }, { "slug": "mtfmt", "symbol": "MTFMT", "hgnc": "HGNC:29666", "name": "mitochondrial methionyl-tRNA formyltransferase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/mtfmt" }, { "slug": "myo7a", "symbol": "MYO7A", "hgnc": "HGNC:7606", "name": "myosin VIIA", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/myo7a" }, { "slug": "nf2", "symbol": "NF2", "hgnc": "HGNC:7773", "name": "NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nf2" }, { "slug": "nhs", "symbol": "NHS", "hgnc": "HGNC:7820", "name": "NHS actin remodeling regulator", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nhs" }, { "slug": "nphp1", "symbol": "NPHP1", "hgnc": "HGNC:7905", "name": "nephrocystin 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/nphp1" }, { "slug": "oca2", "symbol": "OCA2", "hgnc": "HGNC:8101", "name": "OCA2 melanosomal transmembrane protein", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/oca2" }, { "slug": "otx2", "symbol": "OTX2", "hgnc": "HGNC:8522", "name": "orthodenticle homeobox 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/otx2" }, { "slug": "pcdh15", "symbol": "PCDH15", "hgnc": "HGNC:14674", "name": "protocadherin related 15", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pcdh15" }, { "slug": "pdzd7", "symbol": "PDZD7", "hgnc": "HGNC:26257", "name": "PDZ domain containing 7", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pdzd7" }, { "slug": "pi4ka", "symbol": "PI4KA", "hgnc": "HGNC:8983", "name": "phosphatidylinositol 4-kinase alpha", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pi4ka" }, { "slug": "pnpt1", "symbol": "PNPT1", "hgnc": "HGNC:23166", "name": "polyribonucleotide nucleotidyltransferase 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/pnpt1" }, { "slug": "pou3f4", "symbol": "POU3F4", "hgnc": "HGNC:9217", "name": "POU class 3 homeobox 4", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/pou3f4" }, { "slug": "puf60", "symbol": "PUF60", "hgnc": "HGNC:17042", "name": "poly(U) binding splicing factor 60", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/puf60" }, { "slug": "sclt1", "symbol": "SCLT1", "hgnc": "HGNC:26406", "name": "sodium channel and clathrin linker 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sclt1" }, { "slug": "sdha", "symbol": "SDHA", "hgnc": "HGNC:10680", "name": "succinate dehydrogenase complex flavoprotein subunit A", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sdha" }, { "slug": "sdhaf1", "symbol": "SDHAF1", "hgnc": "HGNC:33867", "name": "succinate dehydrogenase complex assembly factor 1", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sdhaf1" }, { "slug": "sdhb", "symbol": "SDHB", "hgnc": "HGNC:10681", "name": "succinate dehydrogenase complex iron sulfur subunit B", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sdhb" }, { "slug": "sdhd", "symbol": "SDHD", "hgnc": "HGNC:10683", "name": "succinate dehydrogenase complex subunit D", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sdhd" }, { "slug": "selenoi", "symbol": "SELENOI", "hgnc": "HGNC:29361", "name": "selenoprotein I", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/selenoi" }, { "slug": "sepsecs", "symbol": "SEPSECS", "hgnc": "HGNC:30605", "name": "Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/sepsecs" }, { "slug": "spata7", "symbol": "SPATA7", "hgnc": "HGNC:20423", "name": "spermatogenesis associated 7", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/spata7" }, { "slug": "tacstd2", "symbol": "TACSTD2", "hgnc": "HGNC:11530", "name": "tumor associated calcium signal transducer 2", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/tacstd2" }, { "slug": "trim32", "symbol": "TRIM32", "hgnc": "HGNC:16380", "name": "tripartite motif containing 32", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/trim32" }, { "slug": "tsen15", "symbol": "TSEN15", "hgnc": "HGNC:16791", "name": "tRNA splicing endonuclease subunit 15", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tsen15" }, { "slug": "tsen2", "symbol": "TSEN2", "hgnc": "HGNC:28422", "name": "tRNA splicing endonuclease subunit 2", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tsen2" }, { "slug": "tsen34", "symbol": "TSEN34", "hgnc": "HGNC:15506", "name": "tRNA splicing endonuclease subunit 34", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tsen34" }, { "slug": "tsen54", "symbol": "TSEN54", "hgnc": "HGNC:27561", "name": "tRNA splicing endonuclease subunit 54", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/tsen54" }, { "slug": "tspan12", "symbol": "TSPAN12", "hgnc": "HGNC:21641", "name": "tetraspanin 12", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/tspan12" }, { "slug": "unc119", "symbol": "UNC119", "hgnc": "HGNC:12565", "name": "unc-119 lipid binding chaperone", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/unc119" }, { "slug": "ush1c", "symbol": "USH1C", "hgnc": "HGNC:12597", "name": "USH1 protein network component harmonin", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ush1c" }, { "slug": "ush1g", "symbol": "USH1G", "hgnc": "HGNC:16356", "name": "USH1 protein network component sans", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/ush1g" }, { "slug": "ush2a", "symbol": "USH2A", "hgnc": "HGNC:12601", "name": "usherin", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/ush2a" }, { "slug": "vcan", "symbol": "VCAN", "hgnc": "HGNC:2464", "name": "versican", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/vcan" }, { "slug": "vsx1", "symbol": "VSX1", "hgnc": "HGNC:12723", "name": "visual system homeobox 1", "frequency": "frequent", "diseases": 2, "url": "https://dantelabs.com/genes/vsx1" }, { "slug": "wdpcp", "symbol": "WDPCP", "hgnc": "HGNC:28027", "name": "WD repeat containing planar cell polarity effector", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/wdpcp" }, { "slug": "whrn", "symbol": "WHRN", "hgnc": "HGNC:16361", "name": "whirlin", "frequency": "frequent", "diseases": 1, "url": "https://dantelabs.com/genes/whrn" }, { "slug": "abcc6", "symbol": "ABCC6", "hgnc": "HGNC:57", "name": "ATP binding cassette subfamily C member 6", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/abcc6" }, { "slug": "abcd1", "symbol": "ABCD1", "hgnc": "HGNC:61", "name": "ATP binding cassette subfamily D member 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/abcd1" }, { "slug": "agbl5", "symbol": "AGBL5", "hgnc": "HGNC:26147", "name": "AGBL carboxypeptidase 5", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/agbl5" }, { "slug": "ahi1", "symbol": "AHI1", "hgnc": "HGNC:21575", "name": "Abelson helper integration site 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ahi1" }, { "slug": "ankrd55", "symbol": "ANKRD55", "hgnc": "HGNC:25681", "name": "ankyrin repeat domain 55", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ankrd55" }, { "slug": "ap1s2", "symbol": "AP1S2", "hgnc": "HGNC:560", "name": "adaptor related protein complex 1 subunit sigma 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ap1s2" }, { "slug": "armc9", "symbol": "ARMC9", "hgnc": "HGNC:20730", "name": "armadillo repeat containing 9", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/armc9" }, { "slug": "arsa", "symbol": "ARSA", "hgnc": "HGNC:713", "name": "arylsulfatase A", "frequency": "occasional", "diseases": 3, "url": "https://dantelabs.com/genes/arsa" }, { "slug": "best1", "symbol": "BEST1", "hgnc": "HGNC:12703", "name": "bestrophin 1", "frequency": "occasional", "diseases": 4, "url": "https://dantelabs.com/genes/best1" }, { "slug": "ca4", "symbol": "CA4", "hgnc": "HGNC:1375", "name": "carbonic anhydrase 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ca4" }, { "slug": "cd247", "symbol": "CD247", "hgnc": "HGNC:1677", "name": "CD247 molecule", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cd247" }, { "slug": "cdc42", "symbol": "CDC42", "hgnc": "HGNC:1736", "name": "cell division cycle 42", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cdc42" }, { "slug": "cdhr1", "symbol": "CDHR1", "hgnc": "HGNC:14550", "name": "cadherin related family member 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cdhr1" }, { "slug": "cerkl", "symbol": "CERKL", "hgnc": "HGNC:21699", "name": "CERK like autophagy regulator", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cerkl" }, { "slug": "cfap20", "symbol": "CFAP20", "hgnc": "HGNC:29523", "name": "cilia and flagella associated protein 20", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cfap20" }, { "slug": "cngb1", "symbol": "CNGB1", "hgnc": "HGNC:2151", "name": "cyclic nucleotide gated channel subunit beta 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cngb1" }, { "slug": "coq8b", "symbol": "COQ8B", "hgnc": "HGNC:19041", "name": "coenzyme Q8B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/coq8b" }, { "slug": "crls1", "symbol": "CRLS1", "hgnc": "HGNC:16148", "name": "cardiolipin synthase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/crls1" }, { "slug": "cyp1b1", "symbol": "CYP1B1", "hgnc": "HGNC:2597", "name": "cytochrome P450 family 1 subfamily B member 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/cyp1b1" }, { "slug": "dhx38", "symbol": "DHX38", "hgnc": "HGNC:17211", "name": "DEAH-box helicase 38", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dhx38" }, { "slug": "dld", "symbol": "DLD", "hgnc": "HGNC:2898", "name": "dihydrolipoamide dehydrogenase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dld" }, { "slug": "dot1l", "symbol": "DOT1L", "hgnc": "HGNC:24948", "name": "DOT1 like histone lysine methyltransferase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/dot1l" }, { "slug": "eys", "symbol": "EYS", "hgnc": "HGNC:21555", "name": "EGF-like photoreceptor maintenance factor", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/eys" }, { "slug": "fam161a", "symbol": "FAM161A", "hgnc": "HGNC:25808", "name": "FAM161 centrosomal protein A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fam161a" }, { "slug": "fbxl4", "symbol": "FBXL4", "hgnc": "HGNC:13601", "name": "F-box and leucine rich repeat protein 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fbxl4" }, { "slug": "fscn2", "symbol": "FSCN2", "hgnc": "HGNC:3960", "name": "fascin actin-bundling protein 2, retinal", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/fscn2" }, { "slug": "fxn", "symbol": "FXN", "hgnc": "HGNC:3951", "name": "frataxin", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/fxn" }, { "slug": "gpr179", "symbol": "GPR179", "hgnc": "HGNC:31371", "name": "G protein-coupled receptor 179", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/gpr179" }, { "slug": "grhl2", "symbol": "GRHL2", "hgnc": "HGNC:2799", "name": "grainyhead like transcription factor 2", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/grhl2" }, { "slug": "guca1b", "symbol": "GUCA1B", "hgnc": "HGNC:4679", "name": "guanylate cyclase activator 1B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/guca1b" }, { "slug": "hkdc1", "symbol": "HKDC1", "hgnc": "HGNC:23302", "name": "hexokinase domain containing 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/hkdc1" }, { "slug": "idh3a", "symbol": "IDH3A", "hgnc": "HGNC:5384", "name": "isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/idh3a" }, { "slug": "idh3b", "symbol": "IDH3B", "hgnc": "HGNC:5385", "name": "isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/idh3b" }, { "slug": "ift140", "symbol": "IFT140", "hgnc": "HGNC:29077", "name": "intraflagellar transport 140", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ift140" }, { "slug": "ift43", "symbol": "IFT43", "hgnc": "HGNC:29669", "name": "intraflagellar transport 43", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/ift43" }, { "slug": "ift88", "symbol": "IFT88", "hgnc": "HGNC:20606", "name": "intraflagellar transport 88", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ift88" }, { "slug": "il2ra", "symbol": "IL2RA", "hgnc": "HGNC:6008", "name": "interleukin 2 receptor subunit alpha", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/il2ra" }, { "slug": "il2rb", "symbol": "IL2RB", "hgnc": "HGNC:6009", "name": "interleukin 2 receptor subunit beta", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/il2rb" }, { "slug": "impg1", "symbol": "IMPG1", "hgnc": "HGNC:6055", "name": "interphotoreceptor matrix proteoglycan 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/impg1" }, { "slug": "kiaa1549", "symbol": "KIAA1549", "hgnc": "HGNC:22219", "name": "KIAA1549", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/kiaa1549" }, { "slug": "kif1c", "symbol": "KIF1C", "hgnc": "HGNC:6317", "name": "kinesin family member 1C", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/kif1c" }, { "slug": "ltbp2", "symbol": "LTBP2", "hgnc": "HGNC:6715", "name": "latent transforming growth factor beta binding protein 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ltbp2" }, { "slug": "med16", "symbol": "MED16", "hgnc": "HGNC:17556", "name": "mediator complex subunit 16", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/med16" }, { "slug": "mertk", "symbol": "MERTK", "hgnc": "HGNC:7027", "name": "MER proto-oncogene, tyrosine kinase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/mertk" }, { "slug": "myoc", "symbol": "MYOC", "hgnc": "HGNC:7610", "name": "myocilin", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/myoc" }, { "slug": "nek2", "symbol": "NEK2", "hgnc": "HGNC:7745", "name": "NIMA related kinase 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/nek2" }, { "slug": "ofd1", "symbol": "OFD1", "hgnc": "HGNC:2567", "name": "OFD1 centriole and centriolar satellite protein", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ofd1" }, { "slug": "opn1sw", "symbol": "OPN1SW", "hgnc": "HGNC:1012", "name": "opsin 1, short wave sensitive", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/opn1sw" }, { "slug": "ovol2", "symbol": "OVOL2", "hgnc": "HGNC:15804", "name": "ovo like zinc finger 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ovol2" }, { "slug": "pcare", "symbol": "PCARE", "hgnc": "HGNC:34383", "name": "photoreceptor cilium actin regulator", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pcare" }, { "slug": "pde6a", "symbol": "PDE6A", "hgnc": "HGNC:8785", "name": "phosphodiesterase 6A", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pde6a" }, { "slug": "pde6b", "symbol": "PDE6B", "hgnc": "HGNC:8786", "name": "phosphodiesterase 6B", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/pde6b" }, { "slug": "prcd", "symbol": "PRCD", "hgnc": "HGNC:32528", "name": "photoreceptor disc component", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/prcd" }, { "slug": "primpol", "symbol": "PRIMPOL", "hgnc": "HGNC:26575", "name": "primase and DNA directed polymerase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/primpol" }, { "slug": "prpf3", "symbol": "PRPF3", "hgnc": "HGNC:17348", "name": "pre-mRNA processing factor 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/prpf3" }, { "slug": "prpf31", "symbol": "PRPF31", "hgnc": "HGNC:15446", "name": "pre-mRNA processing factor 31", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/prpf31" }, { "slug": "prpf8", "symbol": "PRPF8", "hgnc": "HGNC:17340", "name": "pre-mRNA processing factor 8", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/prpf8" }, { "slug": "psap", "symbol": "PSAP", "hgnc": "HGNC:9498", "name": "prosaposin", "frequency": "occasional", "diseases": 3, "url": "https://dantelabs.com/genes/psap" }, { "slug": "ptpn2", "symbol": "PTPN2", "hgnc": "HGNC:9650", "name": "protein tyrosine phosphatase non-receptor type 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ptpn2" }, { "slug": "ptpn22", "symbol": "PTPN22", "hgnc": "HGNC:9652", "name": "protein tyrosine phosphatase non-receptor type 22", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/ptpn22" }, { "slug": "rdh12", "symbol": "RDH12", "hgnc": "HGNC:19977", "name": "retinol dehydrogenase 12", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/rdh12" }, { "slug": "rgr", "symbol": "RGR", "hgnc": "HGNC:9990", "name": "retinal G protein coupled receptor", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rgr" }, { "slug": "rnaseh1", "symbol": "RNASEH1", "hgnc": "HGNC:18466", "name": "ribonuclease H1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rnaseh1" }, { "slug": "rnu4-2", "symbol": "RNU4-2", "hgnc": "HGNC:10193", "name": "RNA, U4 small nuclear 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rnu4-2" }, { "slug": "rnu6-1", "symbol": "RNU6-1", "hgnc": "HGNC:10227", "name": "RNA, U6 small nuclear 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rnu6-1" }, { "slug": "rnu6-2", "symbol": "RNU6-2", "hgnc": "HGNC:34270", "name": "RNA, U6 small nuclear 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rnu6-2" }, { "slug": "rnu6-8", "symbol": "RNU6-8", "hgnc": "HGNC:34285", "name": "RNA, U6 small nuclear 8", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rnu6-8" }, { "slug": "rnu6-9", "symbol": "RNU6-9", "hgnc": "HGNC:34269", "name": "RNA, U6 small nuclear 9", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rnu6-9" }, { "slug": "rom1", "symbol": "ROM1", "hgnc": "HGNC:10254", "name": "retinal outer segment membrane protein 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rom1" }, { "slug": "rp2", "symbol": "RP2", "hgnc": "HGNC:10274", "name": "RP2 activator of ARL3 GTPase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rp2" }, { "slug": "rp9", "symbol": "RP9", "hgnc": "HGNC:10288", "name": "RP9 pre-mRNA splicing factor", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/rp9" }, { "slug": "saxo6", "symbol": "SAXO6", "hgnc": "HGNC:29917", "name": "stabilizer of axonemal microtubules 6", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/saxo6" }, { "slug": "sema4a", "symbol": "SEMA4A", "hgnc": "HGNC:10729", "name": "semaphorin 4A", "frequency": "occasional", "diseases": 2, "url": "https://dantelabs.com/genes/sema4a" }, { "slug": "slc1a3", "symbol": "SLC1A3", "hgnc": "HGNC:10941", "name": "solute carrier family 1 member 3", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/slc1a3" }, { "slug": "snrnp200", "symbol": "SNRNP200", "hgnc": "HGNC:30859", "name": "small nuclear ribonucleoprotein U5 subunit 200", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/snrnp200" }, { "slug": "spout1", "symbol": "SPOUT1", "hgnc": "HGNC:26933", "name": "SPOUT domain containing methyltransferase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/spout1" }, { "slug": "stat4", "symbol": "STAT4", "hgnc": "HGNC:11365", "name": "signal transducer and activator of transcription 4", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/stat4" }, { "slug": "tefm", "symbol": "TEFM", "hgnc": "HGNC:26223", "name": "transcription elongation factor, mitochondrial", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tefm" }, { "slug": "tek", "symbol": "TEK", "hgnc": "HGNC:11724", "name": "TEK receptor tyrosine kinase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/tek" }, { "slug": "topors", "symbol": "TOPORS", "hgnc": "HGNC:21653", "name": "TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/topors" }, { "slug": "wasf1", "symbol": "WASF1", "hgnc": "HGNC:12732", "name": "WASP family member 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/wasf1" }, { "slug": "xylt1", "symbol": "XYLT1", "hgnc": "HGNC:15516", "name": "xylosyltransferase 1", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/xylt1" }, { "slug": "xylt2", "symbol": "XYLT2", "hgnc": "HGNC:15517", "name": "xylosyltransferase 2", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/xylt2" }, { "slug": "znf513", "symbol": "ZNF513", "hgnc": "HGNC:26498", "name": "zinc finger protein 513", "frequency": "occasional", "diseases": 1, "url": "https://dantelabs.com/genes/znf513" }, { "slug": "col4a1", "symbol": "COL4A1", "hgnc": "HGNC:2202", "name": "collagen type IV alpha 1 chain", "frequency": "very-rare", "diseases": 1, "url": "https://dantelabs.com/genes/col4a1" }, { "slug": "aipl1", "symbol": "AIPL1", "hgnc": "HGNC:359", "name": "AIP like 1 HSP90 co-chaperone", "diseases": 1, "url": "https://dantelabs.com/genes/aipl1" }, { "slug": "cacna2d4", "symbol": "CACNA2D4", "hgnc": "HGNC:20202", "name": "calcium voltage-gated channel auxiliary subunit alpha2delta 4", "diseases": 1, "url": "https://dantelabs.com/genes/cacna2d4" }, { "slug": "clcc1", "symbol": "CLCC1", "hgnc": "HGNC:29675", "name": "chloride channel CLIC like 1", "diseases": 1, "url": "https://dantelabs.com/genes/clcc1" }, { "slug": "crybb1", "symbol": "CRYBB1", "hgnc": "HGNC:2397", "name": "crystallin beta B1", "diseases": 1, "url": "https://dantelabs.com/genes/crybb1" }, { "slug": "ctns", "symbol": "CTNS", "hgnc": "HGNC:2518", "name": "cystinosin, lysosomal cystine transporter", "diseases": 1, "url": "https://dantelabs.com/genes/ctns" }, { "slug": "dram2", "symbol": "DRAM2", "hgnc": "HGNC:28769", "name": "DNA damage regulated autophagy modulator 2", "diseases": 1, "url": "https://dantelabs.com/genes/dram2" }, { "slug": "efemp1", "symbol": "EFEMP1", "hgnc": "HGNC:3218", "name": "EGF-like fibulin extracellular matrix protein 1", "diseases": 1, "url": "https://dantelabs.com/genes/efemp1" }, { "slug": "elovl1", "symbol": "ELOVL1", "hgnc": "HGNC:14418", "name": "ELOVL fatty acid elongase 1", "diseases": 1, "url": "https://dantelabs.com/genes/elovl1" }, { "slug": "fbn2", "symbol": "FBN2", "hgnc": "HGNC:3604", "name": "fibrillin 2", "diseases": 1, "url": "https://dantelabs.com/genes/fbn2" }, { "slug": "frmd7", "symbol": "FRMD7", "hgnc": "HGNC:8079", "name": "FERM domain containing 7", "diseases": 1, "url": "https://dantelabs.com/genes/frmd7" }, { "slug": "hk1", "symbol": "HK1", "hgnc": "HGNC:4922", "name": "hexokinase 1", "diseases": 1, "url": "https://dantelabs.com/genes/hk1" }, { "slug": "inpp5e", "symbol": "INPP5E", "hgnc": "HGNC:21474", "name": "inositol polyphosphate-5-phosphatase E", "diseases": 1, "url": "https://dantelabs.com/genes/inpp5e" }, { "slug": "kcnv2", "symbol": "KCNV2", "hgnc": "HGNC:19698", "name": "potassium voltage-gated channel modifier subfamily V member 2", "diseases": 1, "url": "https://dantelabs.com/genes/kcnv2" }, { "slug": "kif11", "symbol": "KIF11", "hgnc": "HGNC:6388", "name": "kinesin family member 11", "diseases": 1, "url": "https://dantelabs.com/genes/kif11" }, { "slug": "krt12", "symbol": "KRT12", "hgnc": "HGNC:6414", "name": "keratin 12", "diseases": 1, "url": "https://dantelabs.com/genes/krt12" }, { "slug": "lrp6", "symbol": "LRP6", "hgnc": "HGNC:6698", "name": "LDL receptor related protein 6", "diseases": 1, "url": "https://dantelabs.com/genes/lrp6" }, { "slug": "lrpap1", "symbol": "LRPAP1", "hgnc": "HGNC:6701", "name": "LDL receptor related protein associated protein 1", "diseases": 1, "url": "https://dantelabs.com/genes/lrpap1" }, { "slug": "mapkapk3", "symbol": "MAPKAPK3", "hgnc": "HGNC:6888", "name": "MAPK activated protein kinase 3", "diseases": 1, "url": "https://dantelabs.com/genes/mapkapk3" }, { "slug": "mir184", "symbol": "MIR184", "hgnc": "HGNC:31555", "name": "microRNA 184", "diseases": 1, "url": "https://dantelabs.com/genes/mir184" }, { "slug": "mir204", "symbol": "MIR204", "hgnc": "HGNC:31582", "name": "microRNA 204", "diseases": 1, "url": "https://dantelabs.com/genes/mir204" }, { "slug": "mmachc", "symbol": "MMACHC", "hgnc": "HGNC:24525", "name": "metabolism of cobalamin associated C", "diseases": 1, "url": "https://dantelabs.com/genes/mmachc" }, { "slug": "mmp19", "symbol": "MMP19", "hgnc": "HGNC:7165", "name": "matrix metallopeptidase 19", "diseases": 1, "url": "https://dantelabs.com/genes/mmp19" }, { "slug": "nbas", "symbol": "NBAS", "hgnc": "HGNC:15625", "name": "NBAS subunit of NRZ tethering complex", "diseases": 1, "url": "https://dantelabs.com/genes/nbas" }, { "slug": "ocrl", "symbol": "OCRL", "hgnc": "HGNC:8108", "name": "OCRL inositol polyphosphate-5-phosphatase", "diseases": 1, "url": "https://dantelabs.com/genes/ocrl" }, { "slug": "opa1", "symbol": "OPA1", "hgnc": "HGNC:8140", "name": "OPA1 mitochondrial dynamin like GTPase", "diseases": 2, "url": "https://dantelabs.com/genes/opa1" }, { "slug": "opn1lw", "symbol": "OPN1LW", "hgnc": "HGNC:9936", "name": "opsin 1, long wave sensitive", "diseases": 1, "url": "https://dantelabs.com/genes/opn1lw" }, { "slug": "opn1mw", "symbol": "OPN1MW", "hgnc": "HGNC:4206", "name": "opsin 1, medium wave sensitive", "diseases": 1, "url": "https://dantelabs.com/genes/opn1mw" }, { "slug": "pitpnm3", "symbol": "PITPNM3", "hgnc": "HGNC:21043", "name": "PITPNM family member 3", "diseases": 1, "url": "https://dantelabs.com/genes/pitpnm3" }, { "slug": "pomk", "symbol": "POMK", "hgnc": "HGNC:26267", "name": "protein O-mannose kinase", "diseases": 1, "url": "https://dantelabs.com/genes/pomk" }, { "slug": "porcn", "symbol": "PORCN", "hgnc": "HGNC:17652", "name": "porcupine O-acyltransferase", "diseases": 1, "url": "https://dantelabs.com/genes/porcn" }, { "slug": "prdx1", "symbol": "PRDX1", "hgnc": "HGNC:9352", "name": "peroxiredoxin 1", "diseases": 1, "url": "https://dantelabs.com/genes/prdx1" }, { "slug": "rcbtb1", "symbol": "RCBTB1", "hgnc": "HGNC:18243", "name": "RCC1 and BTB domain containing protein 1", "diseases": 1, "url": "https://dantelabs.com/genes/rcbtb1" }, { "slug": "rhoa", "symbol": "RHOA", "hgnc": "HGNC:667", "name": "ras homolog family member A", "diseases": 1, "url": "https://dantelabs.com/genes/rhoa" }, { "slug": "scyl1", "symbol": "SCYL1", "hgnc": "HGNC:14372", "name": "SCY1 like pseudokinase 1", "diseases": 1, "url": "https://dantelabs.com/genes/scyl1" }, { "slug": "sh3bp2", "symbol": "SH3BP2", "hgnc": "HGNC:10825", "name": "SH3 domain binding protein 2", "diseases": 1, "url": "https://dantelabs.com/genes/sh3bp2" }, { "slug": "slc39a14", "symbol": "SLC39A14", "hgnc": "HGNC:20858", "name": "solute carrier family 39 member 14", "diseases": 1, "url": "https://dantelabs.com/genes/slc39a14" }, { "slug": "ssbp1", "symbol": "SSBP1", "hgnc": "HGNC:11317", "name": "single stranded DNA binding protein 1", "diseases": 1, "url": "https://dantelabs.com/genes/ssbp1" }, { "slug": "timm8a", "symbol": "TIMM8A", "hgnc": "HGNC:11817", "name": "translocase of inner mitochondrial membrane 8A", "diseases": 1, "url": "https://dantelabs.com/genes/timm8a" }, { "slug": "tmem126a", "symbol": "TMEM126A", "hgnc": "HGNC:25382", "name": "transmembrane protein 126A", "diseases": 1, "url": "https://dantelabs.com/genes/tmem126a" }, { "slug": "tubgcp4", "symbol": "TUBGCP4", "hgnc": "HGNC:16691", "name": "tubulin gamma complex component 4", "diseases": 1, "url": "https://dantelabs.com/genes/tubgcp4" }, { "slug": "tyr", "symbol": "TYR", "hgnc": "HGNC:12442", "name": "tyrosinase", "diseases": 1, "url": "https://dantelabs.com/genes/tyr" }, { "slug": "ubiad1", "symbol": "UBIAD1", "hgnc": "HGNC:30791", "name": "UbiA prenyltransferase domain containing 1", "diseases": 1, "url": "https://dantelabs.com/genes/ubiad1" }, { "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": "vps13b", "symbol": "VPS13B", "hgnc": "HGNC:2183", "name": "vacuolar protein sorting 13 homolog B", "diseases": 1, "url": "https://dantelabs.com/genes/vps13b" }, { "slug": "wdr19", "symbol": "WDR19", "hgnc": "HGNC:18340", "name": "WD repeat domain 19", "diseases": 1, "url": "https://dantelabs.com/genes/wdr19" }, { "slug": "zfyve26", "symbol": "ZFYVE26", "hgnc": "HGNC:20761", "name": "zinc finger FYVE-type containing 26", "diseases": 1, "url": "https://dantelabs.com/genes/zfyve26" } ] } }