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Kenmerk
Involuntary, rapid, rhythmic eye movements
Klinische naam: Nystagmus
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Samenvatting
- Lichaamssysteem
- Abnormality of the eye
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Mijn Genome Test bestellen1.040 genen gekoppeld aan Involuntary, rapid, rhythmic eye movements
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Involuntary, rapid, rhythmic eye movements voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Altijd | In 2 aandoeningen |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altijd | In 2 aandoeningen |
| AHDC1AT-hook DNA binding motif containing 1 | Altijd | In 1 aandoening |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Altijd | In 1 aandoening |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Altijd | In 1 aandoening |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Altijd | In 1 aandoening |
| ALMS1ALMS1 centrosome and basal body associated protein | Altijd | In 4 aandoeningen |
| ANO10anoctamin 10 | Altijd | In 1 aandoening |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Altijd | In 1 aandoening |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Altijd | In 3 aandoeningen |
| ARL6ARF like GTPase 6 | Altijd | In 3 aandoeningen |
| ATP13A2ATPase cation transporting 13A2 | Altijd | In 3 aandoeningen |
| ATP5F1AATP synthase F1 subunit alpha | Altijd | In 2 aandoeningen |
| ATXN7ataxin 7 | Altijd | In 2 aandoeningen |
| BBS1Bardet-Biedl syndrome 1 | Altijd | In 3 aandoeningen |
| BLOC1S5biogenesis of lysosomal organelles complex 1 subunit 5 | Altijd | In 1 aandoening |
| BLOC1S6biogenesis of lysosomal organelles complex 1 subunit 6 | Altijd | In 1 aandoening |
| CCDC28Bcoiled-coil domain containing 28B | Altijd | In 1 aandoening |
| CEP104centrosomal protein 104 | Altijd | In 2 aandoeningen |
| CEP290centrosomal protein 290 | Altijd | In 5 aandoeningen |
| CERS1ceramide synthase 1 | Altijd | In 1 aandoening |
| CLCN3Cl-/H+ antiporter 3 | Altijd | In 2 aandoeningen |
| CLDN11claudin 11 | Altijd | In 1 aandoening |
| CLDN19claudin 19 | Altijd | In 2 aandoeningen |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Altijd | In 2 aandoeningen |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Altijd | In 1 aandoening |
| COG3component of oligomeric golgi complex 3 | Altijd | In 1 aandoening |
| COL4A2collagen type IV alpha 2 chain | Altijd | In 1 aandoening |
| COQ4coenzyme Q4 | Altijd | In 1 aandoening |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Altijd | In 1 aandoening |
| CRB1crumbs cell polarity complex component 1 | Altijd | In 4 aandoeningen |
| CRXcone-rod homeobox | Altijd | In 4 aandoeningen |
| DCTdopachrome tautomerase | Altijd | In 1 aandoening |
| DHRS3dehydrogenase/reductase 3 | Altijd | In 1 aandoening |
| DNM1dynamin 1 | Altijd | In 2 aandoeningen |
| DNM1Ldynamin 1L | Altijd | In 3 aandoeningen |
| DTNBP1dystrobrevin binding protein 1 | Altijd | In 1 aandoening |
| ELOVL1ELOVL fatty acid elongase 1 | Altijd | In 1 aandoening |
| ELOVL4ELOVL fatty acid elongase 4 | Altijd | In 2 aandoeningen |
| EMC10ER membrane protein complex subunit 10 | Altijd | In 1 aandoening |
Toon nog 1.000 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Altijd | In 2 aandoeningen |
| ESAMendothelial cell adhesion molecule | Altijd | In 1 aandoening |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Altijd | In 1 aandoening |
| GJC2gap junction protein gamma 2 | Altijd | In 1 aandoening |
| GOSR2golgi SNAP receptor complex member 2 | Altijd | In 1 aandoening |
| GPR143G protein-coupled receptor 143 | Altijd | In 2 aandoeningen |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Altijd | In 1 aandoening |
| GTF3C3general transcription factor IIIC subunit 3 | Altijd | In 1 aandoening |
| GTPBP2GTP binding protein 2 | Altijd | In 1 aandoening |
| GUCY2Dguanylate cyclase 2D, retinal | Altijd | In 4 aandoeningen |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Altijd | In 2 aandoeningen |
| HMBShydroxymethylbilane synthase | Altijd | In 1 aandoening |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Altijd | In 1 aandoening |
| HPS3HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 | Altijd | In 1 aandoening |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Altijd | In 2 aandoeningen |
| IFT52intraflagellar transport 52 | Altijd | In 2 aandoeningen |
| IGBP1immunoglobulin binding protein 1 | Altijd | In 2 aandoeningen |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altijd | In 1 aandoening |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altijd | In 4 aandoeningen |
| JKAMPJNK1/MAPK8 associated membrane protein | Altijd | In 1 aandoening |
| KARS1lysyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Altijd | In 3 aandoeningen |
| KIDINS220kinase D interacting substrate 220 | Altijd | In 2 aandoeningen |
| KMT2Blysine methyltransferase 2B | Altijd | In 2 aandoeningen |
| LRMDAleucine rich melanocyte differentiation associated | Altijd | In 1 aandoening |
| LRRC7leucine rich repeat containing 7 | Altijd | In 1 aandoening |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Altijd | In 1 aandoening |
| MAB21L1mab-21 like 1 | Altijd | In 1 aandoening |
| MAD1L1mitotic arrest deficient 1 like 1 | Altijd | In 1 aandoening |
| MAGmyelin associated glycoprotein | Altijd | In 2 aandoeningen |
| MALmal, T cell differentiation protein (MAL blood group) | Altijd | In 1 aandoening |
| MAP2K2mitogen-activated protein kinase kinase 2 | Altijd | In 3 aandoeningen |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Altijd | In 1 aandoening |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Altijd | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Altijd | In 2 aandoeningen |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Altijd | In 1 aandoening |
| MKS1MKS transition zone complex subunit 1 | Altijd | In 4 aandoeningen |
| MMADHCmetabolism of cobalamin associated D | Altijd | In 2 aandoeningen |
| MOCS2molybdenum cofactor synthesis 2 | Altijd | In 1 aandoening |
| MTRFRmitochondrial translation release factor in rescue | Altijd | In 3 aandoeningen |
| MYO7Amyosin VIIA | Altijd | In 1 aandoening |
| NADK2NAD kinase 2, mitochondrial | Altijd | In 2 aandoeningen |
| NAV3neuron navigator 3 | Altijd | In 1 aandoening |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Altijd | In 2 aandoeningen |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Altijd | In 2 aandoeningen |
| NHEJ1non-homologous end joining factor 1 | Altijd | In 1 aandoening |
| NKX6-2NK6 homeobox 2 | Altijd | In 2 aandoeningen |
| NOP56NOP56 ribonucleoprotein | Altijd | In 1 aandoening |
| NOTCH3notch receptor 3 | Altijd | In 1 aandoening |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Altijd | In 1 aandoening |
| NSUN3NOP2/Sun RNA methyltransferase 3 | Altijd | In 1 aandoening |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Altijd | In 2 aandoeningen |
| OSGEPO-sialoglycoprotein endopeptidase | Altijd | In 1 aandoening |
| OTX2orthodenticle homeobox 2 | Altijd | In 4 aandoeningen |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Altijd | In 1 aandoening |
| PDE6Cphosphodiesterase 6C | Altijd | In 1 aandoening |
| PEX10peroxisomal biogenesis factor 10 | Altijd | In 4 aandoeningen |
| PEX11Bperoxisomal biogenesis factor 11 beta | Altijd | In 4 aandoeningen |
| PEX12peroxisomal biogenesis factor 12 | Altijd | In 4 aandoeningen |
| PEX26peroxisomal biogenesis factor 26 | Altijd | In 4 aandoeningen |
| PEX3peroxisomal biogenesis factor 3 | Altijd | In 4 aandoeningen |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Altijd | In 1 aandoening |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Altijd | In 2 aandoeningen |
| PNPLA6patatin like domain 6, lysophospholipase | Altijd | In 4 aandoeningen |
| POC1BPOC1 centriolar protein B | Altijd | In 2 aandoeningen |
| POLR3KRNA polymerase III subunit K | Altijd | In 1 aandoening |
| PTCD3pentatricopeptide repeat domain 3 | Altijd | In 1 aandoening |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Altijd | In 1 aandoening |
| RARS1arginyl-tRNA synthetase 1 | Altijd | In 2 aandoeningen |
| RNU2-2RNA, U2 small nuclear 2 | Altijd | In 1 aandoening |
| RNU4ATACRNA, U4atac small nuclear | Altijd | In 2 aandoeningen |
| RNU6ATACRNA, U6atac small nuclear | Altijd | In 1 aandoening |
| ROBO3roundabout guidance receptor 3 | Altijd | In 2 aandoeningen |
| RPE65retinoid isomerohydrolase RPE65 | Altijd | In 5 aandoeningen |
| SACSsacsin molecular chaperone | Altijd | In 1 aandoening |
| SALL2spalt like transcription factor 2 | Altijd | In 1 aandoening |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Altijd | In 2 aandoeningen |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Altijd | In 1 aandoening |
| SKOR2SKI family transcriptional corepressor 2 | Altijd | In 1 aandoening |
| SLC24A5solute carrier family 24 member 5 | Altijd | In 2 aandoeningen |
| SLC2A1solute carrier family 2 member 1 | Altijd | In 3 aandoeningen |
| SLC38A8solute carrier family 38 member 8 | Altijd | In 1 aandoening |
| SLC5A6solute carrier family 5 member 6 | Altijd | In 1 aandoening |
| SLC6A6solute carrier family 6 member 6 | Altijd | In 1 aandoening |
| SNF8SNF8 subunit of ESCRT-II | Altijd | In 2 aandoeningen |
| SOX10SRY-box transcription factor 10 | Altijd | In 4 aandoeningen |
| SPATA7spermatogenesis associated 7 | Altijd | In 4 aandoeningen |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Altijd | In 2 aandoeningen |
| SPTBN2spectrin beta, non-erythrocytic 2 | Altijd | In 2 aandoeningen |
| SRD5A3steroid 5 alpha-reductase 3 | Altijd | In 2 aandoeningen |
| TCTN2tectonic family member 2 | Altijd | In 2 aandoeningen |
| TMEM106Btransmembrane protein 106B | Altijd | In 1 aandoening |
| TMEM163transmembrane protein 163 | Altijd | In 1 aandoening |
| TMEM63Btransmembrane protein 63B | Altijd | In 1 aandoening |
| TMEM67transmembrane protein 67 | Altijd | In 5 aandoeningen |
| TOMM7translocase of outer mitochondrial membrane 7 | Altijd | In 1 aandoening |
| TPP1tripeptidyl peptidase 1 | Altijd | In 1 aandoening |
| TSPAN7tetraspanin 7 | Altijd | In 1 aandoening |
| TTBK2tau tubulin kinase 2 | Altijd | In 1 aandoening |
| TULP1TUB like protein 1 | Altijd | In 4 aandoeningen |
| UBAP2Lubiquitin associated protein 2 like | Altijd | In 1 aandoening |
| UBE3Bubiquitin protein ligase E3B | Altijd | In 2 aandoeningen |
| UNC13Aunc-13 homolog A | Altijd | In 1 aandoening |
| UROC1urocanate hydratase 1 | Altijd | In 1 aandoening |
| USH1CUSH1 protein network component harmonin | Altijd | In 1 aandoening |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Altijd | In 2 aandoeningen |
| WSB2WD repeat and SOCS box containing 2 | Altijd | In 1 aandoening |
| XRCC4X-ray repair cross complementing 4 | Altijd | In 1 aandoening |
| ZFXzinc finger protein X-linked | Altijd | In 1 aandoening |
| ABCA4ATP binding cassette subfamily A member 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| AGBL5AGBL carboxypeptidase 5 | Heel vaak (80–99%) | In 1 aandoening |
| AGKacylglycerol kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| AHI1Abelson helper integration site 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| AHRaryl hydrocarbon receptor | Heel vaak (80–99%) | In 1 aandoening |
| ALX4ALX homeobox 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Heel vaak (80–99%) | In 1 aandoening |
| ARL2BPARF like GTPase 2 binding protein | Heel vaak (80–99%) | In 1 aandoening |
| ARL3ARF like GTPase 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| ATMATM serine/threonine kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| BBS2Bardet-Biedl syndrome 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| BEST1bestrophin 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CA4carbonic anhydrase 4 | Heel vaak (80–99%) | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Heel vaak (80–99%) | In 7 aandoeningen |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Heel vaak (80–99%) | In 5 aandoeningen |
| CC2D2Acoiled-coil and C2 domain containing 2A | Heel vaak (80–99%) | In 4 aandoeningen |
| CDHR1cadherin related family member 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CERKLCERK like autophagy regulator | Heel vaak (80–99%) | In 1 aandoening |
| CFAP20cilia and flagella associated protein 20 | Heel vaak (80–99%) | In 1 aandoening |
| CFAP418cilia and flagella associated protein 418 | Heel vaak (80–99%) | In 3 aandoeningen |
| CLCN7Cl-/H+ antiporter 7 | Heel vaak (80–99%) | In 1 aandoening |
| CLRN1clarin 1 | Heel vaak (80–99%) | In 1 aandoening |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Heel vaak (80–99%) | In 1 aandoening |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Heel vaak (80–99%) | In 1 aandoening |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| COQ8Bcoenzyme Q8B | Heel vaak (80–99%) | In 1 aandoening |
| CTDP1CTD phosphatase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Heel vaak (80–99%) | In 2 aandoeningen |
| DHX38DEAH-box helicase 38 | Heel vaak (80–99%) | In 1 aandoening |
| ELOVL5ELOVL fatty acid elongase 5 | Heel vaak (80–99%) | In 2 aandoeningen |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 3 aandoeningen |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 2 aandoeningen |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Heel vaak (80–99%) | In 4 aandoeningen |
| ERCC5ERCC excision repair 5, endonuclease | Heel vaak (80–99%) | In 1 aandoening |
| EYSEGF-like photoreceptor maintenance factor | Heel vaak (80–99%) | In 1 aandoening |
| FAM161AFAM161 centrosomal protein A | Heel vaak (80–99%) | In 1 aandoening |
| FOXC1forkhead box C1 | Heel vaak (80–99%) | In 2 aandoeningen |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| FSCN2fascin actin-bundling protein 2, retinal | Heel vaak (80–99%) | In 1 aandoening |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Heel vaak (80–99%) | In 2 aandoeningen |
| GNB5G protein subunit beta 5 | Heel vaak (80–99%) | In 3 aandoeningen |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| GUCA1Bguanylate cyclase activator 1B | Heel vaak (80–99%) | In 1 aandoening |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| HKDC1hexokinase domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| HSPD1heat shock protein family D (Hsp60) member 1 | Heel vaak (80–99%) | In 1 aandoening |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Heel vaak (80–99%) | In 1 aandoening |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Heel vaak (80–99%) | In 1 aandoening |
| IFT140intraflagellar transport 140 | Heel vaak (80–99%) | In 4 aandoeningen |
| IFT172intraflagellar transport 172 | Heel vaak (80–99%) | In 2 aandoeningen |
| IFT43intraflagellar transport 43 | Heel vaak (80–99%) | In 2 aandoeningen |
| IFT88intraflagellar transport 88 | Heel vaak (80–99%) | In 1 aandoening |
| IMPDH1inosine monophosphate dehydrogenase 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Heel vaak (80–99%) | In 1 aandoening |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Heel vaak (80–99%) | In 1 aandoening |
| KIAA1549KIAA1549 | Heel vaak (80–99%) | In 1 aandoening |
| KIZkizuna centrosomal protein | Heel vaak (80–99%) | In 1 aandoening |
| KLHL7kelch like family member 7 | Heel vaak (80–99%) | In 1 aandoening |
| LRATlecithin retinol acyltransferase | Heel vaak (80–99%) | In 4 aandoeningen |
| MAKmale germ cell associated kinase | Heel vaak (80–99%) | In 1 aandoening |
| MERTKMER proto-oncogene, tyrosine kinase | Heel vaak (80–99%) | In 1 aandoening |
| MPV17mitochondrial inner membrane protein MPV17 | Heel vaak (80–99%) | In 1 aandoening |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| MYO5Amyosin VA | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Heel vaak (80–99%) | In 2 aandoeningen |
| NEK2NIMA related kinase 2 | Heel vaak (80–99%) | In 1 aandoening |
| NEU1neuraminidase 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| NHSNHS actin remodeling regulator | Heel vaak (80–99%) | In 2 aandoeningen |
| NPTX1neuronal pentraxin 1 | Heel vaak (80–99%) | In 1 aandoening |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Heel vaak (80–99%) | In 1 aandoening |
| NRLneural retina leucine zipper | Heel vaak (80–99%) | In 2 aandoeningen |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Heel vaak (80–99%) | In 1 aandoening |
| OFD1OFD1 centriole and centriolar satellite protein | Heel vaak (80–99%) | In 3 aandoeningen |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| PAX6paired box 6 | Heel vaak (80–99%) | In 9 aandoeningen |
| PCAREphotoreceptor cilium actin regulator | Heel vaak (80–99%) | In 1 aandoening |
| PDE6Aphosphodiesterase 6A | Heel vaak (80–99%) | In 1 aandoening |
| PDE6Bphosphodiesterase 6B | Heel vaak (80–99%) | In 1 aandoening |
| PDE6Gphosphodiesterase 6G | Heel vaak (80–99%) | In 1 aandoening |
| PEX1peroxisomal biogenesis factor 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| PEX13peroxisomal biogenesis factor 13 | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX14peroxisomal biogenesis factor 14 | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX16peroxisomal biogenesis factor 16 | Heel vaak (80–99%) | In 4 aandoeningen |
| PEX19peroxisomal biogenesis factor 19 | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX2peroxisomal biogenesis factor 2 | Heel vaak (80–99%) | In 4 aandoeningen |
| PEX5peroxisomal biogenesis factor 5 | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX6peroxisomal biogenesis factor 6 | Heel vaak (80–99%) | In 5 aandoeningen |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Heel vaak (80–99%) | In 2 aandoeningen |
| PLP1proteolipid protein 1 | Heel vaak (80–99%) | In 8 aandoeningen |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Heel vaak (80–99%) | In 2 aandoeningen |
| PRCDphotoreceptor disc component | Heel vaak (80–99%) | In 1 aandoening |
| PROM1prominin 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| PRPF3pre-mRNA processing factor 3 | Heel vaak (80–99%) | In 1 aandoening |
| PRPF31pre-mRNA processing factor 31 | Heel vaak (80–99%) | In 1 aandoening |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Heel vaak (80–99%) | In 1 aandoening |
| PRPF6pre-mRNA processing factor 6 | Heel vaak (80–99%) | In 1 aandoening |
| PRPF8pre-mRNA processing factor 8 | Heel vaak (80–99%) | In 1 aandoening |
| PRPH2peripherin 2 | Heel vaak (80–99%) | In 4 aandoeningen |
| RAB3ARAB3A, member RAS oncogene family | Heel vaak (80–99%) | In 1 aandoening |
| RBP3retinol binding protein 3 | Heel vaak (80–99%) | In 1 aandoening |
| RDH12retinol dehydrogenase 12 | Heel vaak (80–99%) | In 2 aandoeningen |
| REEP6receptor accessory protein 6 | Heel vaak (80–99%) | In 1 aandoening |
| RGRretinal G protein coupled receptor | Heel vaak (80–99%) | In 1 aandoening |
| RHOrhodopsin | Heel vaak (80–99%) | In 1 aandoening |
| RLBP1retinaldehyde binding protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| RNF216ring finger protein 216 | Heel vaak (80–99%) | In 2 aandoeningen |
| RNU4-2RNA, U4 small nuclear 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| RNU6-1RNA, U6 small nuclear 1 | Heel vaak (80–99%) | In 1 aandoening |
| RNU6-2RNA, U6 small nuclear 2 | Heel vaak (80–99%) | In 1 aandoening |
| RNU6-8RNA, U6 small nuclear 8 | Heel vaak (80–99%) | In 1 aandoening |
| RNU6-9RNA, U6 small nuclear 9 | Heel vaak (80–99%) | In 1 aandoening |
| ROM1retinal outer segment membrane protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| RP1RP1 axonemal microtubule associated | Heel vaak (80–99%) | In 1 aandoening |
| RP1L1RP1 like 1 | Heel vaak (80–99%) | In 1 aandoening |
| RP2RP2 activator of ARL3 GTPase | Heel vaak (80–99%) | In 1 aandoening |
| RP9RP9 pre-mRNA splicing factor | Heel vaak (80–99%) | In 1 aandoening |
| RPGRretinitis pigmentosa GTPase regulator | Heel vaak (80–99%) | In 3 aandoeningen |
| RPGRIP1RPGR interacting protein 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| SAGS-antigen visual arrestin | Heel vaak (80–99%) | In 2 aandoeningen |
| SAXO6stabilizer of axonemal microtubules 6 | Heel vaak (80–99%) | In 1 aandoening |
| SCAPERS-phase cyclin A associated protein in the ER | Heel vaak (80–99%) | In 2 aandoeningen |
| SEMA4Asemaphorin 4A | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC25A24solute carrier family 25 member 24 | Heel vaak (80–99%) | In 1 aandoening |
| SLC25A4solute carrier family 25 member 4 | Heel vaak (80–99%) | In 1 aandoening |
| SLC29A3solute carrier family 29 member 3 | Heel vaak (80–99%) | In 1 aandoening |
| SLC45A2solute carrier family 45 member 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC7A14solute carrier family 7 member 14 | Heel vaak (80–99%) | In 1 aandoening |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Heel vaak (80–99%) | In 1 aandoening |
| SNX10sorting nexin 10 | Heel vaak (80–99%) | In 1 aandoening |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Heel vaak (80–99%) | In 3 aandoeningen |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| TKFCtriokinase and FMN cyclase | Heel vaak (80–99%) | In 1 aandoening |
| TMEM126Btransmembrane protein 126B | Heel vaak (80–99%) | In 1 aandoening |
| TMEM216transmembrane protein 216 | Heel vaak (80–99%) | In 4 aandoeningen |
| TMEM237transmembrane protein 237 | Heel vaak (80–99%) | In 4 aandoeningen |
| TNFRSF11ATNF receptor superfamily member 11a | Heel vaak (80–99%) | In 2 aandoeningen |
| TNFSF11TNF superfamily member 11 | Heel vaak (80–99%) | In 2 aandoeningen |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Heel vaak (80–99%) | In 2 aandoeningen |
| TRIM44TRIM family member 44 | Heel vaak (80–99%) | In 1 aandoening |
| TTC8tetratricopeptide repeat domain 8 | Heel vaak (80–99%) | In 2 aandoeningen |
| TUBTUB bipartite transcription factor | Heel vaak (80–99%) | In 1 aandoening |
| TYRtyrosinase | Heel vaak (80–99%) | In 4 aandoeningen |
| USH2Ausherin | Heel vaak (80–99%) | In 1 aandoening |
| WT1WT1 transcription factor | Heel vaak (80–99%) | In 2 aandoeningen |
| WWOXWW domain containing oxidoreductase | Heel vaak (80–99%) | In 1 aandoening |
| YARS1tyrosyl-tRNA synthetase 1 | Heel vaak (80–99%) | In 1 aandoening |
| ZNF408zinc finger protein 408 | Heel vaak (80–99%) | In 1 aandoening |
| ZNF513zinc finger protein 513 | Heel vaak (80–99%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Vaak (30–79%) | In 3 aandoeningen |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Vaak (30–79%) | In 2 aandoeningen |
| ACO2aconitase 2 | Vaak (30–79%) | In 1 aandoening |
| ACOX1acyl-CoA oxidase 1 | Vaak (30–79%) | In 2 aandoeningen |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Vaak (30–79%) | In 2 aandoeningen |
| AIPL1AIP like 1 HSP90 co-chaperone | Vaak (30–79%) | In 2 aandoeningen |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Vaak (30–79%) | In 2 aandoeningen |
| ANK1ankyrin 1 | Vaak (30–79%) | In 1 aandoening |
| ANKHANKH inorganic pyrophosphate transport regulator | Vaak (30–79%) | In 1 aandoening |
| ANTXR1ANTXR cell adhesion molecule 1 | Vaak (30–79%) | In 2 aandoeningen |
| ARL13BARF like GTPase 13B | Vaak (30–79%) | In 1 aandoening |
| ARMC9armadillo repeat containing 9 | Vaak (30–79%) | In 1 aandoening |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Vaak (30–79%) | In 1 aandoening |
| ARXaristaless related homeobox | Vaak (30–79%) | In 2 aandoeningen |
| ASPAaspartoacylase | Vaak (30–79%) | In 1 aandoening |
| ATCAYATCAY kinesin light chain interacting caytaxin | Vaak (30–79%) | In 2 aandoeningen |
| ATF6activating transcription factor 6 | Vaak (30–79%) | In 2 aandoeningen |
| ATN1atrophin 1 | Vaak (30–79%) | In 1 aandoening |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Vaak (30–79%) | In 4 aandoeningen |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Vaak (30–79%) | In 4 aandoeningen |
| ATXN10ataxin 10 | Vaak (30–79%) | In 2 aandoeningen |
| ATXN2ataxin 2 | Vaak (30–79%) | In 1 aandoening |
| ATXN8ataxin 8 | Vaak (30–79%) | In 2 aandoeningen |
| ATXN8OSATXN8 opposite strand lncRNA | Vaak (30–79%) | In 2 aandoeningen |
| B3GLCTbeta 3-glucosyltransferase | Vaak (30–79%) | In 2 aandoeningen |
| B9D1B9 domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| B9D2B9 domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| BBIP1BBSome interacting protein 1 | Vaak (30–79%) | In 1 aandoening |
| BBS10Bardet-Biedl syndrome 10 | Vaak (30–79%) | In 1 aandoening |
| BBS12Bardet-Biedl syndrome 12 | Vaak (30–79%) | In 1 aandoening |
| BBS4Bardet-Biedl syndrome 4 | Vaak (30–79%) | In 1 aandoening |
| BBS5Bardet-Biedl syndrome 5 | Vaak (30–79%) | In 1 aandoening |
| BBS7Bardet-Biedl syndrome 7 | Vaak (30–79%) | In 1 aandoening |
| BBS9Bardet-Biedl syndrome 9 | Vaak (30–79%) | In 1 aandoening |
| BDNFbrain derived neurotrophic factor | Vaak (30–79%) | In 1 aandoening |
| BEAN1brain expressed associated with NEDD4 1 | Vaak (30–79%) | In 2 aandoeningen |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Vaak (30–79%) | In 3 aandoeningen |
| CABP4calcium binding protein 4 | Vaak (30–79%) | In 3 aandoeningen |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Vaak (30–79%) | In 2 aandoeningen |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Vaak (30–79%) | In 2 aandoeningen |
| CASKcalcium/calmodulin dependent serine protein kinase | Vaak (30–79%) | In 2 aandoeningen |
| CAV1caveolin 1 | Vaak (30–79%) | In 1 aandoening |
| CBY1chibby 1, beta catenin antagonist | Vaak (30–79%) | In 1 aandoening |
| CENPEcentromere protein E | Vaak (30–79%) | In 1 aandoening |
| CEP120centrosomal protein 120 | Vaak (30–79%) | In 3 aandoeningen |
| CEP19centrosomal protein 19 | Vaak (30–79%) | In 1 aandoening |
| CEP41centrosomal protein 41 | Vaak (30–79%) | In 2 aandoeningen |
| CEP78centrosomal protein 78 | Vaak (30–79%) | In 1 aandoening |
| CHD7chromodomain helicase DNA binding protein 7 | Vaak (30–79%) | In 2 aandoeningen |
| CHKAcholine kinase alpha | Vaak (30–79%) | In 1 aandoening |
| CISD2CDGSH iron sulfur domain 2 | Vaak (30–79%) | In 1 aandoening |
| CLCN6Cl-/H+ antiporter 6 | Vaak (30–79%) | In 1 aandoening |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Vaak (30–79%) | In 1 aandoening |
| CLTRNcollectrin, amino acid transport regulator | Vaak (30–79%) | In 1 aandoening |
| COG4component of oligomeric golgi complex 4 | Vaak (30–79%) | In 2 aandoeningen |
| COL18A1collagen type XVIII alpha 1 chain | Vaak (30–79%) | In 2 aandoeningen |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Vaak (30–79%) | In 3 aandoeningen |
| CPLX1complexin 1 | Vaak (30–79%) | In 2 aandoeningen |
| CPSF3cleavage and polyadenylation specific factor 3 | Vaak (30–79%) | In 1 aandoening |
| CSPP1centrosome and spindle pole associated protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| CTBP1C-terminal binding protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Vaak (30–79%) | In 1 aandoening |
| DARS1aspartyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| DCCDCC netrin 1 receptor | Vaak (30–79%) | In 2 aandoeningen |
| DEGS1delta 4-desaturase, sphingolipid 1 | Vaak (30–79%) | In 1 aandoening |
| DHCR2424-dehydrocholesterol reductase | Vaak (30–79%) | In 2 aandoeningen |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Vaak (30–79%) | In 1 aandoening |
| DLATdihydrolipoamide S-acetyltransferase | Vaak (30–79%) | In 1 aandoening |
| DOHHdeoxyhypusine hydroxylase | Vaak (30–79%) | In 1 aandoening |
| EEF2eukaryotic translation elongation factor 2 | Vaak (30–79%) | In 2 aandoeningen |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Vaak (30–79%) | In 1 aandoening |
| EPG5ectopic P-granules 5 autophagy tethering factor | Vaak (30–79%) | In 3 aandoeningen |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| ERMARDER membrane associated RNA degradation | Vaak (30–79%) | In 1 aandoening |
| EXOSC2exosome component 2 | Vaak (30–79%) | In 1 aandoening |
| EXOSC3exosome component 3 | Vaak (30–79%) | In 2 aandoeningen |
| EXOSC8exosome component 8 | Vaak (30–79%) | In 1 aandoening |
| EXOSC9exosome component 9 | Vaak (30–79%) | In 1 aandoening |
| EXT2exostosin glycosyltransferase 2 | Vaak (30–79%) | In 1 aandoening |
| EXTL3exostosin like glycosyltransferase 3 | Vaak (30–79%) | In 2 aandoeningen |
| FAM149B1family with sequence similarity 149 member B1 | Vaak (30–79%) | In 1 aandoening |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Vaak (30–79%) | In 1 aandoening |
| FCSKfucose kinase | Vaak (30–79%) | In 1 aandoening |
| FDXRferredoxin reductase | Vaak (30–79%) | In 3 aandoeningen |
| FGFR1fibroblast growth factor receptor 1 | Vaak (30–79%) | In 2 aandoeningen |
| FGFRL1fibroblast growth factor receptor like 1 | Vaak (30–79%) | In 1 aandoening |
| FOXP1forkhead box P1 | Vaak (30–79%) | In 2 aandoeningen |
| FRMD5FERM domain containing 5 | Vaak (30–79%) | In 1 aandoening |
| FXNfrataxin | Vaak (30–79%) | In 3 aandoeningen |
| FZD5frizzled class receptor 5 | Vaak (30–79%) | In 1 aandoening |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Vaak (30–79%) | In 1 aandoening |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Vaak (30–79%) | In 2 aandoeningen |
| GBA2glucosylceramidase beta 2 | Vaak (30–79%) | In 3 aandoeningen |
| GDF6growth differentiation factor 6 | Vaak (30–79%) | In 2 aandoeningen |
| GFAPglial fibrillary acidic protein | Vaak (30–79%) | In 1 aandoening |
| GJB1gap junction protein beta 1 | Vaak (30–79%) | In 2 aandoeningen |
| GLRX5glutaredoxin 5 | Vaak (30–79%) | In 2 aandoeningen |
| GMPPBGDP-mannose pyrophosphorylase B | Vaak (30–79%) | In 3 aandoeningen |
| GNASGNAS complex locus | Vaak (30–79%) | In 6 aandoeningen |
| GPR179G protein-coupled receptor 179 | Vaak (30–79%) | In 1 aandoening |
| HESX1HESX homeobox 1 | Vaak (30–79%) | In 2 aandoeningen |
| HID1HID1 domain containing | Vaak (30–79%) | In 1 aandoening |
| HIKESHIheat shock protein nuclear import factor hikeshi | Vaak (30–79%) | In 1 aandoening |
| HMX1H6 family homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| HPS5HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 | Vaak (30–79%) | In 1 aandoening |
| HPS6HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 | Vaak (30–79%) | In 1 aandoening |
| HRASHRas proto-oncogene, GTPase | Vaak (30–79%) | In 1 aandoening |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Vaak (30–79%) | In 2 aandoeningen |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Vaak (30–79%) | In 1 aandoening |
| IFT27intraflagellar transport 27 | Vaak (30–79%) | In 1 aandoening |
| IFT74intraflagellar transport 74 | Vaak (30–79%) | In 2 aandoeningen |
| INPP5Einositol polyphosphate-5-phosphatase E | Vaak (30–79%) | In 4 aandoeningen |
| IQCB1IQ motif containing B1 | Vaak (30–79%) | In 1 aandoening |
| ISCA2iron-sulfur cluster assembly 2 | Vaak (30–79%) | In 2 aandoeningen |
| KATNIPkatanin interacting protein | Vaak (30–79%) | In 2 aandoeningen |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Vaak (30–79%) | In 1 aandoening |
| KCND3potassium voltage-gated channel subfamily D member 3 | Vaak (30–79%) | In 2 aandoeningen |
| KCNK4potassium two pore domain channel subfamily K member 4 | Vaak (30–79%) | In 1 aandoening |
| KIAA0586KIAA0586 | Vaak (30–79%) | In 1 aandoening |
| KIAA0753KIAA0753 | Vaak (30–79%) | In 2 aandoeningen |
| KIF7kinesin family member 7 | Vaak (30–79%) | In 2 aandoeningen |
| KLC2kinesin light chain 2 | Vaak (30–79%) | In 2 aandoeningen |
| KRASKRas proto-oncogene, GTPase | Vaak (30–79%) | In 5 aandoeningen |
| KRT10keratin 10 | Vaak (30–79%) | In 1 aandoening |
| LAGE3L antigen family member 3 | Vaak (30–79%) | In 1 aandoening |
| LAMB2laminin subunit beta 2 | Vaak (30–79%) | In 2 aandoeningen |
| LCA5lebercilin LCA5 | Vaak (30–79%) | In 3 aandoeningen |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Vaak (30–79%) | In 3 aandoeningen |
| LIM2lens intrinsic membrane protein 2 | Vaak (30–79%) | In 1 aandoening |
| LSM11LSM11, U7 small nuclear RNA associated | Vaak (30–79%) | In 2 aandoeningen |
| LYRM7LYR motif containing 7 | Vaak (30–79%) | In 1 aandoening |
| LZTFL1leucine zipper transcription factor like 1 | Vaak (30–79%) | In 1 aandoening |
| MAP2K1mitogen-activated protein kinase kinase 1 | Vaak (30–79%) | In 3 aandoeningen |
| MAPKAPK5MAPK activated protein kinase 5 | Vaak (30–79%) | In 1 aandoening |
| MC1Rmelanocortin 1 receptor | Vaak (30–79%) | In 2 aandoeningen |
| MCOLN1mucolipin TRP cation channel 1 | Vaak (30–79%) | In 1 aandoening |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Vaak (30–79%) | In 2 aandoeningen |
| MED11mediator complex subunit 11 | Vaak (30–79%) | In 1 aandoening |
| MED12mediator complex subunit 12 | Vaak (30–79%) | In 1 aandoening |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Vaak (30–79%) | In 1 aandoening |
| MKKSMKKS centrosomal shuttling protein | Vaak (30–79%) | In 1 aandoening |
| MMACHCmetabolism of cobalamin associated C | Vaak (30–79%) | In 2 aandoeningen |
| MPZmyelin protein zero | Vaak (30–79%) | In 2 aandoeningen |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Vaak (30–79%) | In 4 aandoeningen |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Vaak (30–79%) | In 1 aandoening |
| MTPAPmitochondrial poly(A) polymerase | Vaak (30–79%) | In 2 aandoeningen |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Vaak (30–79%) | In 1 aandoening |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Vaak (30–79%) | In 2 aandoeningen |
| MTSS2MTSS I-BAR domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| NAGAalpha-N-acetylgalactosaminidase | Vaak (30–79%) | In 2 aandoeningen |
| NAXENAD(P)HX epimerase | Vaak (30–79%) | In 2 aandoeningen |
| NCAPG2non-SMC condensin II complex subunit G2 | Vaak (30–79%) | In 1 aandoening |
| NDPnorrin cystine knot growth factor NDP | Vaak (30–79%) | In 2 aandoeningen |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Vaak (30–79%) | In 4 aandoeningen |
| NOTCH2NLCnotch 2 N-terminal like C | Vaak (30–79%) | In 1 aandoening |
| NPHP1nephrocystin 1 | Vaak (30–79%) | In 3 aandoeningen |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Vaak (30–79%) | In 2 aandoeningen |
| NSD2nuclear receptor binding SET domain protein 2 | Vaak (30–79%) | In 2 aandoeningen |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Vaak (30–79%) | In 2 aandoeningen |
| OCA2OCA2 melanosomal transmembrane protein | Vaak (30–79%) | In 2 aandoeningen |
| OGTO-linked N-acetylglucosamine (GlcNAc) transferase | Vaak (30–79%) | In 1 aandoening |
| OPA1OPA1 mitochondrial dynamin like GTPase | Vaak (30–79%) | In 3 aandoeningen |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Vaak (30–79%) | In 2 aandoeningen |
| OPN1LWopsin 1, long wave sensitive | Vaak (30–79%) | In 3 aandoeningen |
| OPN1MWopsin 1, medium wave sensitive | Vaak (30–79%) | In 3 aandoeningen |
| PAK2p21 (RAC1) activated kinase 2 | Vaak (30–79%) | In 1 aandoening |
| PANK4pantothenate kinase 4 (inactive) | Vaak (30–79%) | In 1 aandoening |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Vaak (30–79%) | In 3 aandoeningen |
| PDE6Dphosphodiesterase 6D | Vaak (30–79%) | In 2 aandoeningen |
| PDE6Hphosphodiesterase 6H | Vaak (30–79%) | In 1 aandoening |
| PHF21APHD finger protein 21A | Vaak (30–79%) | In 1 aandoening |
| PI4KAphosphatidylinositol 4-kinase alpha | Vaak (30–79%) | In 3 aandoeningen |
| PIBF1progesterone immunomodulatory binding factor 1 | Vaak (30–79%) | In 1 aandoening |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Vaak (30–79%) | In 1 aandoening |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Vaak (30–79%) | In 1 aandoening |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Vaak (30–79%) | In 1 aandoening |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Vaak (30–79%) | In 1 aandoening |
| PLA2G6phospholipase A2 group VI | Vaak (30–79%) | In 4 aandoeningen |
| PLAAphospholipase A2 activating protein | Vaak (30–79%) | In 2 aandoeningen |
| PLEKHG2pleckstrin homology and RhoGEF domain containing G2 | Vaak (30–79%) | In 1 aandoening |
| PLK4polo like kinase 4 | Vaak (30–79%) | In 1 aandoening |
| PMP22peripheral myelin protein 22 | Vaak (30–79%) | In 2 aandoeningen |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Vaak (30–79%) | In 4 aandoeningen |
| POLGDNA polymerase gamma, catalytic subunit | Vaak (30–79%) | In 2 aandoeningen |
| POLR1ARNA polymerase I subunit A | Vaak (30–79%) | In 1 aandoening |
| POLR3ARNA polymerase III subunit A | Vaak (30–79%) | In 3 aandoeningen |
| PORCNporcupine O-acyltransferase | Vaak (30–79%) | In 2 aandoeningen |
| PRDM13PR/SET domain 13 | Vaak (30–79%) | In 2 aandoeningen |
| PRKD1protein kinase D1 | Vaak (30–79%) | In 1 aandoening |
| PRNPprion protein (Kanno blood group) | Vaak (30–79%) | In 2 aandoeningen |
| PROKR2prokineticin receptor 2 | Vaak (30–79%) | In 2 aandoeningen |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Vaak (30–79%) | In 2 aandoeningen |
| PRR12proline rich 12 | Vaak (30–79%) | In 1 aandoening |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Vaak (30–79%) | In 1 aandoening |
| PURApurine rich element binding protein A | Vaak (30–79%) | In 1 aandoening |
| RAB11BRAB11B, member RAS oncogene family | Vaak (30–79%) | In 1 aandoening |
| RD3RD3 regulator of GUCY2D | Vaak (30–79%) | In 2 aandoeningen |
| REPS1RALBP1 associated Eps domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| RFC1replication factor C subunit 1 | Vaak (30–79%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| RIMS2regulating synaptic membrane exocytosis 2 | Vaak (30–79%) | In 1 aandoening |
| RPGRIP1LRPGRIP1 like | Vaak (30–79%) | In 3 aandoeningen |
| RTN4IP1reticulon 4 interacting protein 1 | Vaak (30–79%) | In 1 aandoening |
| RUBCNrubicon autophagy regulator | Vaak (30–79%) | In 2 aandoeningen |
| SAMD9Lsterile alpha motif domain containing 9 like | Vaak (30–79%) | In 2 aandoeningen |
| SCLT1sodium channel and clathrin linker 1 | Vaak (30–79%) | In 1 aandoening |
| SCO2synthesis of cytochrome C oxidase 2 | Vaak (30–79%) | In 1 aandoening |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Vaak (30–79%) | In 1 aandoening |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Vaak (30–79%) | In 3 aandoeningen |
| SEMA3Esemaphorin 3E | Vaak (30–79%) | In 1 aandoening |
| SETXsenataxin | Vaak (30–79%) | In 1 aandoening |
| SIL1SIL1 nucleotide exchange factor | Vaak (30–79%) | In 2 aandoeningen |
| SLC1A3solute carrier family 1 member 3 | Vaak (30–79%) | In 2 aandoeningen |
| SLC25A46solute carrier family 25 member 46 | Vaak (30–79%) | In 2 aandoeningen |
| SLC33A1solute carrier family 33 member 1 | Vaak (30–79%) | In 1 aandoening |
| SLC4A11solute carrier family 4 member 11 | Vaak (30–79%) | In 2 aandoeningen |
| SLC6A19solute carrier family 6 member 19 | Vaak (30–79%) | In 1 aandoening |
| SLC9A6solute carrier family 9 member A6 | Vaak (30–79%) | In 1 aandoening |
| SNX14sorting nexin 14 | Vaak (30–79%) | In 2 aandoeningen |
| SOX2SRY-box transcription factor 2 | Vaak (30–79%) | In 1 aandoening |
| SOX3SRY-box transcription factor 3 | Vaak (30–79%) | In 1 aandoening |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Vaak (30–79%) | In 2 aandoeningen |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Vaak (30–79%) | In 2 aandoeningen |
| STUB1STIP1 homology and U-box containing protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| STX16syntaxin 16 | Vaak (30–79%) | In 1 aandoening |
| STX3syntaxin 3 | Vaak (30–79%) | In 1 aandoening |
| SUFUSUFU negative regulator of hedgehog signaling | Vaak (30–79%) | In 2 aandoeningen |
| SYT1synaptotagmin 1 | Vaak (30–79%) | In 2 aandoeningen |
| SYT14synaptotagmin 14 | Vaak (30–79%) | In 1 aandoening |
| TATtyrosine aminotransferase | Vaak (30–79%) | In 1 aandoening |
| TBC1D24TBC1 domain family member 24 | Vaak (30–79%) | In 1 aandoening |
| TBCKTBC1 domain containing kinase | Vaak (30–79%) | In 2 aandoeningen |
| TCTN1tectonic family member 1 | Vaak (30–79%) | In 1 aandoening |
| TCTN3tectonic family member 3 | Vaak (30–79%) | In 2 aandoeningen |
| TEFMtranscription elongation factor, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| TMEM138transmembrane protein 138 | Vaak (30–79%) | In 1 aandoening |
| TMEM218transmembrane protein 218 | Vaak (30–79%) | In 1 aandoening |
| TMEM231transmembrane protein 231 | Vaak (30–79%) | In 2 aandoeningen |
| TMEM240transmembrane protein 240 | Vaak (30–79%) | In 2 aandoeningen |
| TOE1target of EGR1, exonuclease | Vaak (30–79%) | In 2 aandoeningen |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Vaak (30–79%) | In 1 aandoening |
| TRIM32tripartite motif containing 32 | Vaak (30–79%) | In 1 aandoening |
| TRPM1transient receptor potential cation channel subfamily M member 1 | Vaak (30–79%) | In 1 aandoening |
| TTC19tetratricopeptide repeat domain 19 | Vaak (30–79%) | In 1 aandoening |
| TTPAalpha tocopherol transfer protein | Vaak (30–79%) | In 1 aandoening |
| TUBA4Atubulin alpha 4a | Vaak (30–79%) | In 1 aandoening |
| TUBB3tubulin beta 3 class III | Vaak (30–79%) | In 2 aandoeningen |
| TUBB4Btubulin beta 4B class IVb | Vaak (30–79%) | In 2 aandoeningen |
| TUBGCP4tubulin gamma complex component 4 | Vaak (30–79%) | In 2 aandoeningen |
| TUBGCP6tubulin gamma complex component 6 | Vaak (30–79%) | In 2 aandoeningen |
| TWNKtwinkle mtDNA helicase | Vaak (30–79%) | In 4 aandoeningen |
| TYRP1tyrosinase related protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| USP45ubiquitin specific peptidase 45 | Vaak (30–79%) | In 2 aandoeningen |
| USP8ubiquitin specific peptidase 8 | Vaak (30–79%) | In 1 aandoening |
| VPS41VPS41 subunit of HOPS complex | Vaak (30–79%) | In 1 aandoening |
| VRK1VRK serine/threonine kinase 1 | Vaak (30–79%) | In 1 aandoening |
| WDPCPWD repeat containing planar cell polarity effector | Vaak (30–79%) | In 1 aandoening |
| WDR48WD repeat domain 48 | Vaak (30–79%) | In 1 aandoening |
| WFS1wolframin ER transmembrane glycoprotein | Vaak (30–79%) | In 2 aandoeningen |
| XYLT2xylosyltransferase 2 | Vaak (30–79%) | In 2 aandoeningen |
| ZFYVE26zinc finger FYVE-type containing 26 | Vaak (30–79%) | In 2 aandoeningen |
| ZNF423zinc finger protein 423 | Vaak (30–79%) | In 1 aandoening |
| ABCC9ATP binding cassette subfamily C member 9 | Soms (5–29%) | In 1 aandoening |
| ACTL6Bactin like 6B | Soms (5–29%) | In 1 aandoening |
| ADAM9ADAM metallopeptidase domain 9 | Soms (5–29%) | In 1 aandoening |
| ADAMTSL4ADAMTS like 4 | Soms (5–29%) | In 1 aandoening |
| ADARadenosine deaminase RNA specific | Soms (5–29%) | In 2 aandoeningen |
| ADGRG1adhesion G protein-coupled receptor G1 | Soms (5–29%) | In 2 aandoeningen |
| ADPRSADP-ribosylserine hydrolase | Soms (5–29%) | In 1 aandoening |
| AFF3ALF transcription elongation factor 3 | Soms (5–29%) | In 1 aandoening |
| AFG2AAAA ATPase AFG2A | Soms (5–29%) | In 1 aandoening |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Soms (5–29%) | In 1 aandoening |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Soms (5–29%) | In 1 aandoening |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Soms (5–29%) | In 1 aandoening |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Soms (5–29%) | In 1 aandoening |
| ANKRD11ankyrin repeat domain 11 | Soms (5–29%) | In 1 aandoening |
| ANOS1anosmin 1 | Soms (5–29%) | In 1 aandoening |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| APCAPC regulator of Wnt signaling pathway | Soms (5–29%) | In 1 aandoening |
| ATAD3AATPase family AAA domain containing 3A | Soms (5–29%) | In 2 aandoeningen |
| ATP5F1DATP synthase F1 subunit delta | Soms (5–29%) | In 1 aandoening |
| ATP5F1EATP synthase F1 subunit epsilon | Soms (5–29%) | In 1 aandoening |
| ATP5MKATP synthase membrane subunit k | Soms (5–29%) | In 1 aandoening |
| ATP5POATP synthase peripheral stalk subunit OSCP | Soms (5–29%) | In 1 aandoening |
| ATP6V1AATPase H+ transporting V1 subunit A | Soms (5–29%) | In 1 aandoening |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Soms (5–29%) | In 1 aandoening |
| ATXN1ataxin 1 | Soms (5–29%) | In 2 aandoeningen |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| BCAS3BCAS3 microtubule associated cell migration factor | Soms (5–29%) | In 1 aandoening |
| BCORBCL6 corepressor | Soms (5–29%) | In 1 aandoening |
| BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3 | Soms (5–29%) | In 1 aandoening |
| BMP4bone morphogenetic protein 4 | Soms (5–29%) | In 2 aandoeningen |
| BOLA3bolA family member 3 | Soms (5–29%) | In 1 aandoening |
| BRCA1BRCA1 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRCA2BRCA2 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRD4bromodomain containing 4 | Soms (5–29%) | In 1 aandoening |
| BRIP1BRCA1 interacting DNA helicase 1 | Soms (5–29%) | In 1 aandoening |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Soms (5–29%) | In 1 aandoening |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Soms (5–29%) | In 1 aandoening |
| CACNB4calcium voltage-gated channel auxiliary subunit beta 4 | Soms (5–29%) | In 1 aandoening |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Soms (5–29%) | In 1 aandoening |
| CAPN1calpain 1 | Soms (5–29%) | In 1 aandoening |
| CARS1cysteinyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| CASZ1castor zinc finger 1 | Soms (5–29%) | In 1 aandoening |
| CBLCbl proto-oncogene | Soms (5–29%) | In 1 aandoening |
| CCDC141coiled-coil domain containing 141 | Soms (5–29%) | In 1 aandoening |
| CDH3cadherin 3 | Soms (5–29%) | In 1 aandoening |
| CDK19cyclin dependent kinase 19 | Soms (5–29%) | In 1 aandoening |
| CELF2CUGBP Elav-like family member 2 | Soms (5–29%) | In 2 aandoeningen |
| CEP164centrosomal protein 164 | Soms (5–29%) | In 1 aandoening |
| CFAP410cilia and flagella associated protein 410 | Soms (5–29%) | In 2 aandoeningen |
| CHD6chromodomain helicase DNA binding protein 6 | Soms (5–29%) | In 1 aandoening |
| CHN1chimerin 1 | Soms (5–29%) | In 1 aandoening |
| CILK1ciliogenesis associated kinase 1 | Soms (5–29%) | In 1 aandoening |
| CLN5CLN5 lysosomal BMP synthase | Soms (5–29%) | In 1 aandoening |
| CLPBClpB family mitochondrial disaggregase | Soms (5–29%) | In 2 aandoeningen |
| CLTCclathrin heavy chain | Soms (5–29%) | In 1 aandoening |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Soms (5–29%) | In 1 aandoening |
| CNOT3CCR4-NOT transcription complex subunit 3 | Soms (5–29%) | In 1 aandoening |
| CNTNAP2contactin associated protein 2 | Soms (5–29%) | In 1 aandoening |
| COL11A1collagen type XI alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| CPceruloplasmin | Soms (5–29%) | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Soms (5–29%) | In 1 aandoening |
| CRELD1CRELD disulfide isomerase 1 | Soms (5–29%) | In 1 aandoening |
| CRLS1cardiolipin synthase 1 | Soms (5–29%) | In 1 aandoening |
| CRYAAcrystallin alpha A | Soms (5–29%) | In 2 aandoeningen |
| CRYBA4crystallin beta A4 | Soms (5–29%) | In 1 aandoening |
| CRYBB1crystallin beta B1 | Soms (5–29%) | In 2 aandoeningen |
| CRYBB2crystallin beta B2 | Soms (5–29%) | In 1 aandoening |
| CRYGCcrystallin gamma C | Soms (5–29%) | In 2 aandoeningen |
| CRYGDcrystallin gamma D | Soms (5–29%) | In 1 aandoening |
| CSF1Rcolony stimulating factor 1 receptor | Soms (5–29%) | In 1 aandoening |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Soms (5–29%) | In 1 aandoening |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Soms (5–29%) | In 2 aandoeningen |
| DAB1DAB adaptor protein 1 | Soms (5–29%) | In 1 aandoening |
| DALRD3DALR anticodon binding domain containing 3 | Soms (5–29%) | In 1 aandoening |
| DBR1debranching RNA lariats 1 | Soms (5–29%) | In 1 aandoening |
| DDB1damage specific DNA binding protein 1 | Soms (5–29%) | In 1 aandoening |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Soms (5–29%) | In 1 aandoening |
| DHCR77-dehydrocholesterol reductase | Soms (5–29%) | In 2 aandoeningen |
| DHX37DEAH-box helicase 37 | Soms (5–29%) | In 1 aandoening |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Soms (5–29%) | In 1 aandoening |
| DNMT1DNA methyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| DOLKdolichol kinase | Soms (5–29%) | In 1 aandoening |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Soms (5–29%) | In 2 aandoeningen |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Soms (5–29%) | In 2 aandoeningen |
| DPYDdihydropyrimidine dehydrogenase | Soms (5–29%) | In 2 aandoeningen |
| DRAM2DNA damage regulated autophagy modulator 2 | Soms (5–29%) | In 1 aandoening |
| DUSP6dual specificity phosphatase 6 | Soms (5–29%) | In 1 aandoening |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Soms (5–29%) | In 1 aandoening |
| EGR2early growth response 2 | Soms (5–29%) | In 1 aandoening |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Soms (5–29%) | In 1 aandoening |
| EMX2empty spiracles homeobox 2 | Soms (5–29%) | In 1 aandoening |
| EP300EP300 lysine acetyltransferase | Soms (5–29%) | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Soms (5–29%) | In 5 aandoeningen |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Soms (5–29%) | In 4 aandoeningen |
| ERLIN1ER lipid raft associated 1 | Soms (5–29%) | In 1 aandoening |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Soms (5–29%) | In 1 aandoening |
| FAAP100FA core complex associated protein 100 | Soms (5–29%) | In 1 aandoening |
| FANCAFA complementation group A | Soms (5–29%) | In 1 aandoening |
| FANCBFA complementation group B | Soms (5–29%) | In 1 aandoening |
| FANCCFA complementation group C | Soms (5–29%) | In 1 aandoening |
| FANCD2FA complementation group D2 | Soms (5–29%) | In 1 aandoening |
| FANCEFA complementation group E | Soms (5–29%) | In 1 aandoening |
| FANCFFA complementation group F | Soms (5–29%) | In 1 aandoening |
| FANCGFA complementation group G | Soms (5–29%) | In 1 aandoening |
| FANCIFA complementation group I | Soms (5–29%) | In 1 aandoening |
| FANCLFA complementation group L | Soms (5–29%) | In 1 aandoening |
| FANCMFA complementation group M | Soms (5–29%) | In 1 aandoening |
| FBN1fibrillin 1 | Soms (5–29%) | In 1 aandoening |
| FBXL4F-box and leucine rich repeat protein 4 | Soms (5–29%) | In 1 aandoening |
| FBXO22F-box protein 22 | Soms (5–29%) | In 1 aandoening |
| FBXO28F-box protein 28 | Soms (5–29%) | In 1 aandoening |
| FEZF1FEZ family zinc finger 1 | Soms (5–29%) | In 1 aandoening |
| FGF12fibroblast growth factor 12 | Soms (5–29%) | In 1 aandoening |
| FGF17fibroblast growth factor 17 | Soms (5–29%) | In 1 aandoening |
| FGF8fibroblast growth factor 8 | Soms (5–29%) | In 1 aandoening |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Soms (5–29%) | In 1 aandoening |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Soms (5–29%) | In 1 aandoening |
| FOCADfocadhesin | Soms (5–29%) | In 1 aandoening |
| FOXG1forkhead box G1 | Soms (5–29%) | In 1 aandoening |
| FRMPD4FERM and PDZ domain containing 4 | Soms (5–29%) | In 1 aandoening |
| FRRS1Lferric chelate reductase 1 like | Soms (5–29%) | In 1 aandoening |
| FUSFUS RNA binding protein | Soms (5–29%) | In 1 aandoening |
| FZR1fizzy and cell division cycle 20 related 1 | Soms (5–29%) | In 1 aandoening |
| GABBR1gamma-aminobutyric acid type B receptor subunit 1 | Soms (5–29%) | In 1 aandoening |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Soms (5–29%) | In 1 aandoening |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Soms (5–29%) | In 1 aandoening |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Soms (5–29%) | In 1 aandoening |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Soms (5–29%) | In 1 aandoening |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Soms (5–29%) | In 1 aandoening |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Soms (5–29%) | In 1 aandoening |
| GJA1gap junction protein alpha 1 | Soms (5–29%) | In 1 aandoening |
| GJA8gap junction protein alpha 8 | Soms (5–29%) | In 1 aandoening |
| GMPPAGDP-mannose pyrophosphorylase A | Soms (5–29%) | In 1 aandoening |
| GNB1G protein subunit beta 1 | Soms (5–29%) | In 2 aandoeningen |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Soms (5–29%) | In 1 aandoening |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Soms (5–29%) | In 1 aandoening |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Soms (5–29%) | In 1 aandoening |
| GTF2E2general transcription factor IIE subunit 2 | Soms (5–29%) | In 2 aandoeningen |
| GTF2H5general transcription factor IIH subunit 5 | Soms (5–29%) | In 1 aandoening |
| GUCA1Aguanylate cyclase activator 1A | Soms (5–29%) | In 1 aandoening |
| H3-3AH3.3 histone A | Soms (5–29%) | In 1 aandoening |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Soms (5–29%) | In 1 aandoening |
| HDAC8histone deacetylase 8 | Soms (5–29%) | In 1 aandoening |
| HK1hexokinase 1 | Soms (5–29%) | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Soms (5–29%) | In 1 aandoening |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Soms (5–29%) | In 1 aandoening |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Soms (5–29%) | In 1 aandoening |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Soms (5–29%) | In 1 aandoening |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Soms (5–29%) | In 1 aandoening |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Soms (5–29%) | In 1 aandoening |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Soms (5–29%) | In 2 aandoeningen |
| HSPG2heparan sulfate proteoglycan 2 | Soms (5–29%) | In 1 aandoening |
| HTRA1HtrA serine peptidase 1 | Soms (5–29%) | In 1 aandoening |
| IBA57iron-sulfur cluster assembly factor IBA57 | Soms (5–29%) | In 2 aandoeningen |
| IFIH1interferon induced with helicase C domain 1 | Soms (5–29%) | In 2 aandoeningen |
| IFRD1interferon related developmental regulator 1 | Soms (5–29%) | In 1 aandoening |
| IFT122intraflagellar transport 122 | Soms (5–29%) | In 2 aandoeningen |
| IFT54intraflagellar transport 54 | Soms (5–29%) | In 1 aandoening |
| IL17RDinterleukin 17 receptor D | Soms (5–29%) | In 1 aandoening |
| IPO8importin 8 | Soms (5–29%) | In 1 aandoening |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Soms (5–29%) | In 1 aandoening |
| ISCA1iron-sulfur cluster assembly 1 | Soms (5–29%) | In 1 aandoening |
| JAM2junctional adhesion molecule 2 | Soms (5–29%) | In 1 aandoening |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Soms (5–29%) | In 1 aandoening |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Soms (5–29%) | In 1 aandoening |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Soms (5–29%) | In 1 aandoening |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Soms (5–29%) | In 1 aandoening |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Soms (5–29%) | In 1 aandoening |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Soms (5–29%) | In 2 aandoeningen |
| KDM6Alysine demethylase 6A | Soms (5–29%) | In 2 aandoeningen |
| KIF1Akinesin family member 1A | Soms (5–29%) | In 1 aandoening |
| KIF2Akinesin family member 2A | Soms (5–29%) | In 1 aandoening |
| KMT2Dlysine methyltransferase 2D | Soms (5–29%) | In 1 aandoening |
| L1CAML1 cell adhesion molecule | Soms (5–29%) | In 1 aandoening |
| LAMA1laminin subunit alpha 1 | Soms (5–29%) | In 2 aandoeningen |
| LMBRD2LMBR1 domain containing 2 | Soms (5–29%) | In 1 aandoening |
| LMNB1lamin B1 | Soms (5–29%) | In 1 aandoening |
| LONP1lon peptidase 1, mitochondrial | Soms (5–29%) | In 1 aandoening |
| LRP4LDL receptor related protein 4 | Soms (5–29%) | In 1 aandoening |
| LRP5LDL receptor related protein 5 | Soms (5–29%) | In 1 aandoening |
| LRPPRCleucine rich pentatricopeptide repeat containing | Soms (5–29%) | In 1 aandoening |
| LUZP1leucine zipper protein 1 | Soms (5–29%) | In 1 aandoening |
| LZTR1leucine zipper like post translational regulator 1 | Soms (5–29%) | In 1 aandoening |
| MAD2L2mitotic arrest deficient 2 like 2 | Soms (5–29%) | In 1 aandoening |
| MAFMAF bZIP transcription factor | Soms (5–29%) | In 1 aandoening |
| MAFBMAF bZIP transcription factor B | Soms (5–29%) | In 1 aandoening |
| MAU2MAU2 sister chromatid cohesion factor | Soms (5–29%) | In 1 aandoening |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Soms (5–29%) | In 1 aandoening |
| MFSD8major facilitator superfamily domain containing 8 | Soms (5–29%) | In 1 aandoening |
| MMEmembrane metalloendopeptidase | Soms (5–29%) | In 1 aandoening |
| MMP23Bmatrix metallopeptidase 23B | Soms (5–29%) | In 1 aandoening |
| MPLKIPM-phase specific PLK1 interacting protein | Soms (5–29%) | In 2 aandoeningen |
| MRASmuscle RAS oncogene homolog | Soms (5–29%) | In 1 aandoening |
| MRPS34mitochondrial ribosomal protein S34 | Soms (5–29%) | In 1 aandoening |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Soms (5–29%) | In 1 aandoening |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Soms (5–29%) | In 1 aandoening |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Soms (5–29%) | In 1 aandoening |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Soms (5–29%) | In 1 aandoening |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Soms (5–29%) | In 1 aandoening |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Soms (5–29%) | In 1 aandoening |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Soms (5–29%) | In 1 aandoening |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Soms (5–29%) | In 1 aandoening |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Soms (5–29%) | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NDNFneuron derived neurotrophic factor | Soms (5–29%) | In 1 aandoening |
| NDST1N-deacetylase and N-sulfotransferase 1 | Soms (5–29%) | In 1 aandoening |
| NECAP1NECAP endocytosis associated 1 | Soms (5–29%) | In 1 aandoening |
| NELFAnegative elongation factor complex member A | Soms (5–29%) | In 1 aandoening |
| NFIXnuclear factor I X | Soms (5–29%) | In 2 aandoeningen |
| NFU1NFU1 iron-sulfur cluster scaffold | Soms (5–29%) | In 1 aandoening |
| NIPBLNIPBL cohesin loading factor | Soms (5–29%) | In 2 aandoeningen |
| NRASNRAS proto-oncogene, GTPase | Soms (5–29%) | In 1 aandoening |
| NTNG2netrin G2 | Soms (5–29%) | In 1 aandoening |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Soms (5–29%) | In 1 aandoening |
| OTUD5OTU deubiquitinase 5 | Soms (5–29%) | In 1 aandoening |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| PACS2phosphofurin acidic cluster sorting protein 2 | Soms (5–29%) | In 2 aandoeningen |
| PALB2partner and localizer of BRCA2 | Soms (5–29%) | In 1 aandoening |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| PAX2paired box 2 | Soms (5–29%) | In 3 aandoeningen |
| PBX1PBX homeobox 1 | Soms (5–29%) | In 1 aandoening |
| PDPNpodoplanin | Soms (5–29%) | In 1 aandoening |
| PEX7peroxisomal biogenesis factor 7 | Soms (5–29%) | In 2 aandoeningen |
| PHF6PHD finger protein 6 | Soms (5–29%) | In 2 aandoeningen |
| PHYHphytanoyl-CoA 2-hydroxylase | Soms (5–29%) | In 2 aandoeningen |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Soms (5–29%) | In 1 aandoening |
| PITPNM3PITPNM family member 3 | Soms (5–29%) | In 1 aandoening |
| PLXNA1plexin A1 | Soms (5–29%) | In 1 aandoening |
| PMPCApeptidase, mitochondrial processing subunit alpha | Soms (5–29%) | In 1 aandoening |
| POU3F4POU class 3 homeobox 4 | Soms (5–29%) | In 1 aandoening |
| POU4F1POU class 4 homeobox 1 | Soms (5–29%) | In 2 aandoeningen |
| PPFIBP1PPFIB scaffold protein 1 | Soms (5–29%) | In 1 aandoening |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Soms (5–29%) | In 1 aandoening |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Soms (5–29%) | In 1 aandoening |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| PRDM16PR/SET domain 16 | Soms (5–29%) | In 1 aandoening |
| PRKCZprotein kinase C zeta | Soms (5–29%) | In 1 aandoening |
| PROK2prokineticin 2 | Soms (5–29%) | In 1 aandoening |
| PRXperiaxin | Soms (5–29%) | In 1 aandoening |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Soms (5–29%) | In 1 aandoening |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Soms (5–29%) | In 1 aandoening |
| PUS3pseudouridine synthase 3 | Soms (5–29%) | In 1 aandoening |
| PYCR2pyrroline-5-carboxylate reductase 2 | Soms (5–29%) | In 2 aandoeningen |
| RAB28RAB28, member RAS oncogene family | Soms (5–29%) | In 1 aandoening |
| RAD21RAD21 cohesin complex component | Soms (5–29%) | In 1 aandoening |
| RAD51RAD51 recombinase | Soms (5–29%) | In 1 aandoening |
| RAD51CRAD51 paralog C | Soms (5–29%) | In 1 aandoening |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Soms (5–29%) | In 1 aandoening |
| RAP1BRAP1B, member of RAS oncogene family | Soms (5–29%) | In 1 aandoening |
| RASA2RAS p21 protein activator 2 | Soms (5–29%) | In 1 aandoening |
| RAX2retina and anterior neural fold homeobox 2 | Soms (5–29%) | In 1 aandoening |
| RECQL4RecQ like helicase 4 | Soms (5–29%) | In 1 aandoening |
| REREarginine-glutamic acid dipeptide repeats | Soms (5–29%) | In 1 aandoening |
| RFC4replication factor C subunit 4 | Soms (5–29%) | In 1 aandoening |
| RFWD3ring finger and WD repeat domain 3 | Soms (5–29%) | In 1 aandoening |
| RFX7regulatory factor X7 | Soms (5–29%) | In 1 aandoening |
| RHOAras homolog family member A | Soms (5–29%) | In 1 aandoening |
| RIMS1regulating synaptic membrane exocytosis 1 | Soms (5–29%) | In 1 aandoening |
| RIT1Ras like without CAAX 1 | Soms (5–29%) | In 1 aandoening |
| RNASEH2Aribonuclease H2 subunit A | Soms (5–29%) | In 1 aandoening |
| RNASEH2Bribonuclease H2 subunit B | Soms (5–29%) | In 1 aandoening |
| RNASEH2Cribonuclease H2 subunit C | Soms (5–29%) | In 2 aandoeningen |
| RNASET2ribonuclease T2 | Soms (5–29%) | In 1 aandoening |
| RNF113Aring finger protein 113A | Soms (5–29%) | In 1 aandoening |
| RNU12RNA, U12 small nuclear | Soms (5–29%) | In 1 aandoening |
| RNU7-1RNA, U7 small nuclear 1 | Soms (5–29%) | In 2 aandoeningen |
| RORARAR related orphan receptor A | Soms (5–29%) | In 1 aandoening |
| RRASRAS related | Soms (5–29%) | In 1 aandoening |
| RRAS2RAS related 2 | Soms (5–29%) | In 1 aandoening |
| SALL4spalt like transcription factor 4 | Soms (5–29%) | In 2 aandoeningen |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Soms (5–29%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Soms (5–29%) | In 2 aandoeningen |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Soms (5–29%) | In 1 aandoening |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Soms (5–29%) | In 1 aandoening |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Soms (5–29%) | In 1 aandoening |
| SEMA3Asemaphorin 3A | Soms (5–29%) | In 1 aandoening |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Soms (5–29%) | In 2 aandoeningen |
| SIGMAR1sigma receptor chaperone 1 | Soms (5–29%) | In 1 aandoening |
| SIN3ASIN3 transcription regulator family member A | Soms (5–29%) | In 2 aandoeningen |
| SKISKI proto-oncogene | Soms (5–29%) | In 1 aandoening |
| SLC12A6solute carrier family 12 member 6 | Soms (5–29%) | In 1 aandoening |
| SLC13A5solute carrier family 13 member 5 | Soms (5–29%) | In 1 aandoening |
| SLC16A2solute carrier family 16 member 2 | Soms (5–29%) | In 1 aandoening |
| SLC1A2solute carrier family 1 member 2 | Soms (5–29%) | In 1 aandoening |
| SLC25A20solute carrier family 25 member 20 | Soms (5–29%) | In 1 aandoening |
| SLC38A3solute carrier family 38 member 3 | Soms (5–29%) | In 1 aandoening |
| SLC39A8solute carrier family 39 member 8 | Soms (5–29%) | In 2 aandoeningen |
| SLC52A2solute carrier family 52 member 2 | Soms (5–29%) | In 1 aandoening |
| SLC9A1solute carrier family 9 member A1 | Soms (5–29%) | In 1 aandoening |
| SLX4SLX4 structure-specific endonuclease subunit | Soms (5–29%) | In 1 aandoening |
| SMC1Astructural maintenance of chromosomes 1A | Soms (5–29%) | In 1 aandoening |
| SMC3structural maintenance of chromosomes 3 | Soms (5–29%) | In 1 aandoening |
| SMPD1sphingomyelin phosphodiesterase 1 | Soms (5–29%) | In 2 aandoeningen |
| SONSON DNA and RNA binding protein | Soms (5–29%) | In 1 aandoening |
| SORDsorbitol dehydrogenase | Soms (5–29%) | In 1 aandoening |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Soms (5–29%) | In 1 aandoening |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Soms (5–29%) | In 1 aandoening |
| SPENspen family transcriptional repressor | Soms (5–29%) | In 1 aandoening |
| SPOUT1SPOUT domain containing methyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| SPRED2sprouty related EVH1 domain containing 2 | Soms (5–29%) | In 1 aandoening |
| SPRY4sprouty RTK signaling antagonist 4 | Soms (5–29%) | In 1 aandoening |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Soms (5–29%) | In 1 aandoening |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Soms (5–29%) | In 1 aandoening |
| SQSTM1sequestosome 1 | Soms (5–29%) | In 1 aandoening |
| SRPX2sushi repeat containing protein X-linked 2 | Soms (5–29%) | In 1 aandoening |
| SRYsex determining region Y | Soms (5–29%) | In 1 aandoening |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Soms (5–29%) | In 2 aandoeningen |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Soms (5–29%) | In 1 aandoening |
| SYNJ1synaptojanin 1 | Soms (5–29%) | In 1 aandoening |
| SZT2SZT2 subunit of KICSTOR complex | Soms (5–29%) | In 1 aandoening |
| TACR3tachykinin receptor 3 | Soms (5–29%) | In 1 aandoening |
| TAF1TATA-box binding protein associated factor 1 | Soms (5–29%) | In 1 aandoening |
| TAF2TATA-box binding protein associated factor 2 | Soms (5–29%) | In 1 aandoening |
| TANGO2transport and golgi organization 2 homolog | Soms (5–29%) | In 1 aandoening |
| TAOK1TAO kinase 1 | Soms (5–29%) | In 1 aandoening |
| TARDBPTAR DNA binding protein | Soms (5–29%) | In 1 aandoening |
| TARS1threonyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| TBCDtubulin folding cofactor D | Soms (5–29%) | In 1 aandoening |
| TCEAL1transcription elongation factor A like 1 | Soms (5–29%) | In 1 aandoening |
| TET3tet methylcytosine dioxygenase 3 | Soms (5–29%) | In 1 aandoening |
| THAP11THAP domain containing 11 | Soms (5–29%) | In 1 aandoening |
| THOC2THO complex subunit 2 | Soms (5–29%) | In 2 aandoeningen |
| TLCD3BTLC domain containing 3B | Soms (5–29%) | In 1 aandoening |
| TMEM63Ctransmembrane protein 63C | Soms (5–29%) | In 1 aandoening |
| TONSLtonsoku like, DNA repair protein | Soms (5–29%) | In 1 aandoening |
| TPK1thiamin pyrophosphokinase 1 | Soms (5–29%) | In 1 aandoening |
| TRAK1trafficking kinesin protein 1 | Soms (5–29%) | In 1 aandoening |
| TREX1three prime repair exonuclease 1 | Soms (5–29%) | In 2 aandoeningen |
| TRIP13thyroid hormone receptor interactor 13 | Soms (5–29%) | In 1 aandoening |
| TRMT2BtRNA methyltransferase 2B | Soms (5–29%) | In 1 aandoening |
| TTLL5tubulin tyrosine ligase like 5 | Soms (5–29%) | In 1 aandoening |
| TUBA1Atubulin alpha 1a | Soms (5–29%) | In 1 aandoening |
| TUBB4Atubulin beta 4A class IVa | Soms (5–29%) | In 1 aandoening |
| UBA5ubiquitin like modifier activating enzyme 5 | Soms (5–29%) | In 1 aandoening |
| UBAP1Lubiquitin associated protein 1 like | Soms (5–29%) | In 1 aandoening |
| UBE2Tubiquitin conjugating enzyme E2 T | Soms (5–29%) | In 1 aandoening |
| UBE4Bubiquitination factor E4B | Soms (5–29%) | In 1 aandoening |
| UBQLN2ubiquilin 2 | Soms (5–29%) | In 1 aandoening |
| UFSP2UFM1 specific peptidase 2 | Soms (5–29%) | In 1 aandoening |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| UGP2UDP-glucose pyrophosphorylase 2 | Soms (5–29%) | In 1 aandoening |
| UNC119unc-119 lipid binding chaperone | Soms (5–29%) | In 1 aandoening |
| USP7ubiquitin specific peptidase 7 | Soms (5–29%) | In 1 aandoening |
| VPS13Bvacuolar protein sorting 13 homolog B | Soms (5–29%) | In 1 aandoening |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Soms (5–29%) | In 2 aandoeningen |
| WDR11WD repeat domain 11 | Soms (5–29%) | In 2 aandoeningen |
| WDR19WD repeat domain 19 | Soms (5–29%) | In 1 aandoening |
| WDR35WD repeat domain 35 | Soms (5–29%) | In 1 aandoening |
| XRCC2X-ray repair cross complementing 2 | Soms (5–29%) | In 1 aandoening |
| YAP1Yes1 associated transcriptional regulator | Soms (5–29%) | In 1 aandoening |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Soms (5–29%) | In 1 aandoening |
| ZNF292zinc finger protein 292 | Soms (5–29%) | In 1 aandoening |
| ZNF699zinc finger protein 699 | Soms (5–29%) | In 1 aandoening |
| ACBD6acyl-CoA binding domain containing 6 | Zelden (1–4%) | In 1 aandoening |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Zelden (1–4%) | In 1 aandoening |
| APC2APC regulator of Wnt signaling pathway 2 | Zelden (1–4%) | In 1 aandoening |
| ASAH1N-acylsphingosine amidohydrolase 1 | Zelden (1–4%) | In 1 aandoening |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Zelden (1–4%) | In 1 aandoening |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Zelden (1–4%) | In 2 aandoeningen |
| EIF3Feukaryotic translation initiation factor 3 subunit F | Zelden (1–4%) | In 1 aandoening |
| FDX2ferredoxin 2 | Zelden (1–4%) | In 1 aandoening |
| FOXE3forkhead box E3 | Zelden (1–4%) | In 3 aandoeningen |
| FOXL2forkhead box L2 | Zelden (1–4%) | In 2 aandoeningen |
| GRK1G protein-coupled receptor kinase 1 | Zelden (1–4%) | In 1 aandoening |
| MTHFRmethylenetetrahydrofolate reductase | Zelden (1–4%) | In 1 aandoening |
| MYT1Lmyelin transcription factor 1 like | Zelden (1–4%) | In 1 aandoening |
| NSD1nuclear receptor binding SET domain protein 1 | Zelden (1–4%) | In 2 aandoeningen |
| PITX2paired like homeodomain 2 | Zelden (1–4%) | In 1 aandoening |
| POGZpogo transposable element derived with ZNF domain | Zelden (1–4%) | In 1 aandoening |
| PPIBpeptidylprolyl isomerase B | Zelden (1–4%) | In 1 aandoening |
| PTBP1polypyrimidine tract binding protein 1 | Zelden (1–4%) | In 1 aandoening |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Zelden (1–4%) | In 1 aandoening |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Zelden (1–4%) | In 1 aandoening |
| SDHDsuccinate dehydrogenase complex subunit D | Zelden (1–4%) | In 1 aandoening |
| ZIC1Zic family zinc finger 1 | Zelden (1–4%) | In 1 aandoening |
| ZIC4Zic family zinc finger 4 | Zelden (1–4%) | In 1 aandoening |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Niet vastgelegd | In 1 aandoening |
| ADD3adducin 3 | Niet vastgelegd | In 1 aandoening |
| ADSLadenylosuccinate lyase | Niet vastgelegd | In 1 aandoening |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Niet vastgelegd | In 1 aandoening |
| APTXaprataxin | Niet vastgelegd | In 1 aandoening |
| ARID1BAT-rich interaction domain 1B | Niet vastgelegd | In 1 aandoening |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Niet vastgelegd | In 1 aandoening |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Niet vastgelegd | In 1 aandoening |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Niet vastgelegd | In 1 aandoening |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Niet vastgelegd | In 1 aandoening |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Niet vastgelegd | In 1 aandoening |
| CAMTA1calmodulin binding transcription activator 1 | Niet vastgelegd | In 1 aandoening |
| COQ2coenzyme Q2, polyprenyltransferase | Niet vastgelegd | In 1 aandoening |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Niet vastgelegd | In 1 aandoening |
| CTNNB1catenin beta 1 | Niet vastgelegd | In 1 aandoening |
| DCXdoublecortin | Niet vastgelegd | In 1 aandoening |
| DGUOKdeoxyguanosine kinase | Niet vastgelegd | In 1 aandoening |
| EBPEBP cholestenol delta-isomerase | Niet vastgelegd | In 1 aandoening |
| ECHS1enoyl-CoA hydratase, short chain 1 | Niet vastgelegd | In 1 aandoening |
| EDNRBendothelin receptor type B | Niet vastgelegd | In 1 aandoening |
| EFNB1ephrin B1 | Niet vastgelegd | In 1 aandoening |
| FA2Hfatty acid 2-hydroxylase | Niet vastgelegd | In 1 aandoening |
| FMR1fragile X messenger ribonucleoprotein 1 | Niet vastgelegd | In 1 aandoening |
| GALCgalactosylceramidase | Niet vastgelegd | In 1 aandoening |
| GANgigaxonin | Niet vastgelegd | In 1 aandoening |
| GDF3growth differentiation factor 3 | Niet vastgelegd | In 1 aandoening |
| GFM1G elongation factor mitochondrial 1 | Niet vastgelegd | In 1 aandoening |
| GNAT2G protein subunit alpha transducin 2 | Niet vastgelegd | In 1 aandoening |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Niet vastgelegd | In 1 aandoening |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Niet vastgelegd | In 1 aandoening |
| KANK1KN motif and ankyrin repeat domains 1 | Niet vastgelegd | In 1 aandoening |
| KIF11kinesin family member 11 | Niet vastgelegd | In 1 aandoening |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Niet vastgelegd | In 1 aandoening |
| LYSTlysosomal trafficking regulator | Niet vastgelegd | In 1 aandoening |
| MAB21L2mab-21 like 2 | Niet vastgelegd | In 1 aandoening |
| MAN2B1mannosidase alpha class 2B member 1 | Niet vastgelegd | In 1 aandoening |
| MN1MN1 proto-oncogene, transcriptional regulator | Niet vastgelegd | In 1 aandoening |
| MOCS1molybdenum cofactor synthesis 1 | Niet vastgelegd | In 1 aandoening |
| MPDU1mannose-P-dolichol utilization defect 1 | Niet vastgelegd | In 1 aandoening |
| MVKmevalonate kinase | Niet vastgelegd | In 1 aandoening |
| MYO9Amyosin IXA | Niet vastgelegd | In 1 aandoening |
| NALCNsodium leak channel, non-selective | Niet vastgelegd | In 1 aandoening |
| NANSN-acetylneuraminate synthase | Niet vastgelegd | In 1 aandoening |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| NEFLneurofilament light chain | Niet vastgelegd | In 1 aandoening |
| NT5C25'-nucleotidase, cytosolic II | Niet vastgelegd | In 1 aandoening |
| OCLNoccludin | Niet vastgelegd | In 1 aandoening |
| OPHN1oligophrenin 1 | Niet vastgelegd | In 1 aandoening |
| OXR1oxidation resistance 1 | Niet vastgelegd | In 1 aandoening |
| PACS1phosphofurin acidic cluster sorting protein 1 | Niet vastgelegd | In 1 aandoening |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Niet vastgelegd | In 1 aandoening |
| PHGDHphosphoglycerate dehydrogenase | Niet vastgelegd | In 1 aandoening |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Niet vastgelegd | In 1 aandoening |
| PLD3phospholipase D family member 3 | Niet vastgelegd | In 1 aandoening |
| PMM2phosphomannomutase 2 | Niet vastgelegd | In 1 aandoening |
| PRDX1peroxiredoxin 1 | Niet vastgelegd | In 1 aandoening |
| PRKCGprotein kinase C gamma | Niet vastgelegd | In 1 aandoening |
| PRSS12serine protease 12 | Niet vastgelegd | In 1 aandoening |
| RAB18RAB18, member RAS oncogene family | Niet vastgelegd | In 1 aandoening |
| ROBO1roundabout guidance receptor 1 | Niet vastgelegd | In 1 aandoening |
| RPIAribose 5-phosphate isomerase A | Niet vastgelegd | In 1 aandoening |
| SERPINI1serpin family I member 1 | Niet vastgelegd | In 1 aandoening |
| SIX6SIX homeobox 6 | Niet vastgelegd | In 1 aandoening |
| SLC17A5solute carrier family 17 member 5 | Niet vastgelegd | In 2 aandoeningen |
| SLC19A2solute carrier family 19 member 2 | Niet vastgelegd | In 1 aandoening |
| SLC19A3solute carrier family 19 member 3 | Niet vastgelegd | In 1 aandoening |
| SLC35A1solute carrier family 35 member A1 | Niet vastgelegd | In 1 aandoening |
| SLC35A2solute carrier family 35 member A2 | Niet vastgelegd | In 1 aandoening |
| SOSTsclerostin | Niet vastgelegd | In 1 aandoening |
| SPASTspastin | Niet vastgelegd | In 1 aandoening |
| SREBF1sterol regulatory element binding transcription factor 1 | Niet vastgelegd | In 1 aandoening |
| TFAP2Atranscription factor AP-2 alpha | Niet vastgelegd | In 1 aandoening |
| TGM6transglutaminase 6 | Niet vastgelegd | In 1 aandoening |
| TINF2TERF1 interacting nuclear factor 2 | Niet vastgelegd | In 1 aandoening |
| TTRtransthyretin | Niet vastgelegd | In 1 aandoening |
| TUFMTu translation elongation factor, mitochondrial | Niet vastgelegd | In 1 aandoening |
| UBE3Aubiquitin protein ligase E3A | Niet vastgelegd | In 1 aandoening |
| UNC80unc-80 subunit of NALCN channel complex | Niet vastgelegd | In 1 aandoening |
| VWA3Bvon Willebrand factor A domain containing 3B | Niet vastgelegd | In 1 aandoening |
| WDR73WD repeat domain 73 | Niet vastgelegd | In 1 aandoening |
| WNK3WNK lysine deficient protein kinase 3 | Niet vastgelegd | In 1 aandoening |
| YARS2tyrosyl-tRNA synthetase 2 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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