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Kenmerk
Intellectual disability
The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.
Samenvatting
- Ook bekend als
- Low intelligence, Mental deficiency, Poor school performance, Nonprogressive intellectual disability
- Lichaamssysteem
- Abnormality of the nervous system
Intellectual disabilityHP:0001249
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Mijn Genome Test bestellen1.647 genen gekoppeld aan Intellectual disability
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Intellectual disability 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 |
|---|---|---|
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Altijd | In 1 aandoening |
| ACSL4acyl-CoA synthetase long chain family member 4 | Altijd | In 1 aandoening |
| ACTG1actin gamma 1 | Altijd | In 2 aandoeningen |
| ACTL6Bactin like 6B | Altijd | In 2 aandoeningen |
| ADARB1adenosine deaminase RNA specific B1 | Altijd | In 1 aandoening |
| ADAT3adenosine deaminase tRNA specific 3 | Altijd | In 2 aandoeningen |
| ADGRG1adhesion G protein-coupled receptor G1 | Altijd | In 4 aandoeningen |
| ADH5alcohol dehydrogenase 5 (class III), chi polypeptide | Altijd | In 1 aandoening |
| ADNPactivity dependent neuroprotector homeobox | Altijd | In 1 aandoening |
| AFF2ALF transcription elongation factor 2 | Altijd | In 2 aandoeningen |
| AFF3ALF transcription elongation factor 3 | Altijd | In 1 aandoening |
| AGO1argonaute RISC component 1 | Altijd | In 1 aandoening |
| AGO2argonaute RISC catalytic component 2 | Altijd | In 1 aandoening |
| AHDC1AT-hook DNA binding motif containing 1 | Altijd | In 2 aandoeningen |
| AHI1Abelson helper integration site 1 | Altijd | In 3 aandoeningen |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Altijd | In 4 aandoeningen |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Altijd | In 3 aandoeningen |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Altijd | In 2 aandoeningen |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Altijd | In 1 aandoening |
| ALX1ALX homeobox 1 | Altijd | In 2 aandoeningen |
| AMPD2adenosine monophosphate deaminase 2 | Altijd | In 1 aandoening |
| ANK3ankyrin 3 | Altijd | In 1 aandoening |
| ANKRD11ankyrin repeat domain 11 | Altijd | In 1 aandoening |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Altijd | In 2 aandoeningen |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Altijd | In 2 aandoeningen |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Altijd | In 2 aandoeningen |
| APC2APC regulator of Wnt signaling pathway 2 | Altijd | In 1 aandoening |
| AQP4aquaporin 4 | Altijd | In 2 aandoeningen |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Altijd | In 1 aandoening |
| ARID1AAT-rich interaction domain 1A | Altijd | In 1 aandoening |
| ARL13BARF like GTPase 13B | Altijd | In 2 aandoeningen |
| ARMC9armadillo repeat containing 9 | Altijd | In 2 aandoeningen |
| ARXaristaless related homeobox | Altijd | In 8 aandoeningen |
| ASH1LASH1 like histone lysine methyltransferase | Altijd | In 1 aandoening |
| ASPMassembly factor for spindle microtubules | Altijd | In 1 aandoening |
| ASXL3ASXL transcriptional regulator 3 | Altijd | In 2 aandoeningen |
| ATN1atrophin 1 | Altijd | In 2 aandoeningen |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Altijd | In 1 aandoening |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Altijd | In 2 aandoeningen |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Altijd | In 2 aandoeningen |
Toon nog 1.607 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ATP6V0CATPase H+ transporting V0 subunit c | Altijd | In 1 aandoening |
| ATP6V1AATPase H+ transporting V1 subunit A | Altijd | In 2 aandoeningen |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Altijd | In 3 aandoeningen |
| ATP8A2ATPase phospholipid transporting 8A2 | Altijd | In 2 aandoeningen |
| ATRXATRX chromatin remodeler | Altijd | In 3 aandoeningen |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Altijd | In 2 aandoeningen |
| B9D1B9 domain containing 1 | Altijd | In 2 aandoeningen |
| BBIP1BBSome interacting protein 1 | Altijd | In 2 aandoeningen |
| BBS2Bardet-Biedl syndrome 2 | Altijd | In 2 aandoeningen |
| BBS7Bardet-Biedl syndrome 7 | Altijd | In 2 aandoeningen |
| BCKDKbranched chain keto acid dehydrogenase kinase | Altijd | In 1 aandoening |
| BCL11ABCL11 transcription factor A | Altijd | In 1 aandoening |
| BCL11BBCL11 transcription factor B | Altijd | In 2 aandoeningen |
| BCORBCL6 corepressor | Altijd | In 3 aandoeningen |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Altijd | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Altijd | In 7 aandoeningen |
| BRF1BRF1 general transcription factor IIIB subunit | Altijd | In 1 aandoening |
| BRWD3bromodomain and WD repeat domain containing 3 | Altijd | In 1 aandoening |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Altijd | In 2 aandoeningen |
| CA2carbonic anhydrase 2 | Altijd | In 2 aandoeningen |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Altijd | In 6 aandoeningen |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Altijd | In 1 aandoening |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Altijd | In 1 aandoening |
| CASP2caspase 2 | Altijd | In 1 aandoening |
| CBScystathionine beta-synthase | Altijd | In 2 aandoeningen |
| CC2D2Acoiled-coil and C2 domain containing 2A | Altijd | In 3 aandoeningen |
| CCT3chaperonin containing TCP1 subunit 3 | Altijd | In 1 aandoening |
| CDH11cadherin 11 | Altijd | In 2 aandoeningen |
| CDH15cadherin 15 | Altijd | In 1 aandoening |
| CDK10cyclin dependent kinase 10 | Altijd | In 1 aandoening |
| CDK13cyclin dependent kinase 13 | Altijd | In 1 aandoening |
| CDK19cyclin dependent kinase 19 | Altijd | In 2 aandoeningen |
| CDK8cyclin dependent kinase 8 | Altijd | In 1 aandoening |
| CELF2CUGBP Elav-like family member 2 | Altijd | In 2 aandoeningen |
| CEP104centrosomal protein 104 | Altijd | In 2 aandoeningen |
| CEP152centrosomal protein 152 | Altijd | In 2 aandoeningen |
| CEP290centrosomal protein 290 | Altijd | In 5 aandoeningen |
| CEP295centrosomal protein 295 | Altijd | In 2 aandoeningen |
| CEP57centrosomal protein 57 | Altijd | In 2 aandoeningen |
| CEP63centrosomal protein 63 | Altijd | In 2 aandoeningen |
| CERT1ceramide transporter 1 | Altijd | In 1 aandoening |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Altijd | In 1 aandoening |
| CHD2chromodomain helicase DNA binding protein 2 | Altijd | In 3 aandoeningen |
| CHD3chromodomain helicase DNA binding protein 3 | Altijd | In 1 aandoening |
| CHD4chromodomain helicase DNA binding protein 4 | Altijd | In 1 aandoening |
| CHD7chromodomain helicase DNA binding protein 7 | Altijd | In 2 aandoeningen |
| CHD8chromodomain helicase DNA binding protein 8 | Altijd | In 2 aandoeningen |
| CHKBcholine kinase beta | Altijd | In 1 aandoening |
| CHP1calcineurin like EF-hand protein 1 | Altijd | In 1 aandoening |
| CITcitron rho-interacting serine/threonine kinase | Altijd | In 1 aandoening |
| CLCN3Cl-/H+ antiporter 3 | Altijd | In 1 aandoening |
| CLTCclathrin heavy chain | Altijd | In 2 aandoeningen |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Altijd | In 2 aandoeningen |
| CNNM2cyclin and CBS domain divalent metal cation transport mediator 2 | Altijd | In 1 aandoening |
| CNTNAP2contactin associated protein 2 | Altijd | In 1 aandoening |
| COASYCoenzyme A synthase | Altijd | In 1 aandoening |
| COG3component of oligomeric golgi complex 3 | Altijd | In 1 aandoening |
| COG5component of oligomeric golgi complex 5 | Altijd | In 1 aandoening |
| COG8component of oligomeric golgi complex 8 | Altijd | In 2 aandoeningen |
| COL18A1collagen type XVIII alpha 1 chain | Altijd | In 1 aandoening |
| COL9A3collagen type IX alpha 3 chain | Altijd | In 1 aandoening |
| CPEcarboxypeptidase E | Altijd | In 1 aandoening |
| CPLX1complexin 1 | Altijd | In 2 aandoeningen |
| CPSF3cleavage and polyadenylation specific factor 3 | Altijd | In 1 aandoening |
| CRADDCARD and death domain containing adaptor protein | Altijd | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Altijd | In 5 aandoeningen |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Altijd | In 1 aandoening |
| CSNK2Bcasein kinase 2 beta | Altijd | In 1 aandoening |
| CTCFCCCTC-binding factor | Altijd | In 2 aandoeningen |
| CTNNB1catenin beta 1 | Altijd | In 4 aandoeningen |
| CTSAcathepsin A | Altijd | In 2 aandoeningen |
| CUL4Bcullin 4B | Altijd | In 1 aandoening |
| CUX2cut like homeobox 2 | Altijd | In 2 aandoeningen |
| CWF19L1CWF19 like cell cycle control factor 1 | Altijd | In 1 aandoening |
| DAG1dystroglycan 1 | Altijd | In 2 aandoeningen |
| DDB1damage specific DNA binding protein 1 | Altijd | In 1 aandoening |
| DDX3XDEAD-box helicase 3 X-linked | Altijd | In 3 aandoeningen |
| DDX59DEAD-box helicase 59 | Altijd | In 2 aandoeningen |
| DDX6DEAD-box helicase 6 | Altijd | In 1 aandoening |
| DEAF1DEAF1 transcription factor | Altijd | In 3 aandoeningen |
| DHRS3dehydrogenase/reductase 3 | Altijd | In 1 aandoening |
| DHX30DExH-box helicase 30 | Altijd | In 1 aandoening |
| DLG3discs large MAGUK scaffold protein 3 | Altijd | In 1 aandoening |
| DLG4discs large MAGUK scaffold protein 4 | Altijd | In 1 aandoening |
| DNA2DNA replication helicase/nuclease 2 | Altijd | In 2 aandoeningen |
| DNM1dynamin 1 | Altijd | In 3 aandoeningen |
| DNMT3ADNA methyltransferase 3 alpha | Altijd | In 1 aandoening |
| DPF2double PHD fingers 2 | Altijd | In 1 aandoening |
| DPH1diphthamide biosynthesis 1 | Altijd | In 1 aandoening |
| DPP6dipeptidyl peptidase like 6 | Altijd | In 1 aandoening |
| DTYMKdeoxythymidylate kinase | Altijd | In 1 aandoening |
| DYMdymeclin | Altijd | In 2 aandoeningen |
| EEDembryonic ectoderm development | Altijd | In 1 aandoening |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altijd | In 1 aandoening |
| ELP2elongator acetyltransferase complex subunit 2 | Altijd | In 1 aandoening |
| EP300EP300 lysine acetyltransferase | Altijd | In 4 aandoeningen |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Altijd | In 4 aandoeningen |
| ERI1exoribonuclease 1 | Altijd | In 1 aandoening |
| ERLIN2ER lipid raft associated 2 | Altijd | In 2 aandoeningen |
| EXOSC5exosome component 5 | Altijd | In 1 aandoening |
| FAM149B1family with sequence similarity 149 member B1 | Altijd | In 2 aandoeningen |
| FAM177A1family with sequence similarity 177 member A1 | Altijd | In 1 aandoening |
| FBXL3F-box and leucine rich repeat protein 3 | Altijd | In 1 aandoening |
| FBXO11F-box protein 11 | Altijd | In 1 aandoening |
| FBXO28F-box protein 28 | Altijd | In 2 aandoeningen |
| FBXO31F-box protein 31 | Altijd | In 1 aandoening |
| FBXO7F-box protein 7 | Altijd | In 1 aandoening |
| FDXRferredoxin reductase | Altijd | In 1 aandoening |
| FEM1Bfem-1 homolog B | Altijd | In 1 aandoening |
| FERRY3FERRY endosomal RAB5 effector complex subunit 3 | Altijd | In 1 aandoening |
| FGFR3fibroblast growth factor receptor 3 | Altijd | In 6 aandoeningen |
| FILIP1filamin A interacting protein 1 | Altijd | In 1 aandoening |
| FLNAfilamin A | Altijd | In 4 aandoeningen |
| FMN2formin 2 | Altijd | In 1 aandoening |
| FOXP1forkhead box P1 | Altijd | In 1 aandoening |
| FRA10AC1FRA10A associated CGG repeat 1 | Altijd | In 1 aandoening |
| FRMD5FERM domain containing 5 | Altijd | In 1 aandoening |
| FRMPD4FERM and PDZ domain containing 4 | Altijd | In 1 aandoening |
| FRYLFRY like transcription coactivator | Altijd | In 1 aandoening |
| FTSJ1FtsJ RNA 2'-O-methyltransferase 1 | Altijd | In 1 aandoening |
| FUCA1alpha-L-fucosidase 1 | Altijd | In 1 aandoening |
| FUT8fucosyltransferase 8 | Altijd | In 1 aandoening |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Altijd | In 4 aandoeningen |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Altijd | In 3 aandoeningen |
| GATMglycine amidinotransferase | Altijd | In 1 aandoening |
| GDI1GDP dissociation inhibitor 1 | Altijd | In 1 aandoening |
| GGT1gamma-glutamyltransferase 1 | Altijd | In 2 aandoeningen |
| GLB1galactosidase beta 1 | Altijd | In 2 aandoeningen |
| GMPPBGDP-mannose pyrophosphorylase B | Altijd | In 4 aandoeningen |
| GNAI1G protein subunit alpha i1 | Altijd | In 1 aandoening |
| GNB1G protein subunit beta 1 | Altijd | In 2 aandoeningen |
| GNB5G protein subunit beta 5 | Altijd | In 2 aandoeningen |
| GPT2glutamic--pyruvic transaminase 2 | Altijd | In 2 aandoeningen |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Altijd | In 1 aandoening |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Altijd | In 1 aandoening |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Altijd | In 1 aandoening |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Altijd | In 1 aandoening |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Altijd | In 1 aandoening |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Altijd | In 2 aandoeningen |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Altijd | In 2 aandoeningen |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Altijd | In 2 aandoeningen |
| GRM1glutamate metabotropic receptor 1 | Altijd | In 2 aandoeningen |
| GRM7glutamate metabotropic receptor 7 | Altijd | In 2 aandoeningen |
| GTF2H5general transcription factor IIH subunit 5 | Altijd | In 1 aandoening |
| GTF3C3general transcription factor IIIC subunit 3 | Altijd | In 1 aandoening |
| H1-4H1.4 linker histone, cluster member | Altijd | In 1 aandoening |
| H4C11H4 clustered histone 11 | Altijd | In 1 aandoening |
| H4C3H4 clustered histone 3 | Altijd | In 1 aandoening |
| H4C5H4 clustered histone 5 | Altijd | In 1 aandoening |
| HAX1HCLS1 associated protein X-1 | Altijd | In 1 aandoening |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Altijd | In 3 aandoeningen |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Altijd | In 1 aandoening |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Altijd | In 1 aandoening |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Altijd | In 1 aandoening |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Altijd | In 2 aandoeningen |
| HIVEP2HIVEP zinc finger 2 | Altijd | In 1 aandoening |
| HK1hexokinase 1 | Altijd | In 1 aandoening |
| HMGB3high mobility group box 3 | Altijd | In 1 aandoening |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Altijd | In 1 aandoening |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Altijd | In 1 aandoening |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Altijd | In 1 aandoening |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Altijd | In 1 aandoening |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Altijd | In 2 aandoeningen |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Altijd | In 1 aandoening |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Altijd | In 2 aandoeningen |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Altijd | In 1 aandoening |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Altijd | In 1 aandoening |
| IARS1isoleucyl-tRNA synthetase 1 | Altijd | In 2 aandoeningen |
| IFT74intraflagellar transport 74 | Altijd | In 4 aandoeningen |
| IGBP1immunoglobulin binding protein 1 | Altijd | In 2 aandoeningen |
| IGF1insulin like growth factor 1 | Altijd | In 2 aandoeningen |
| IMPA1inositol monophosphatase 1 | Altijd | In 1 aandoening |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altijd | In 1 aandoening |
| INPP5Einositol polyphosphate-5-phosphatase E | Altijd | In 3 aandoeningen |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Altijd | In 2 aandoeningen |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Altijd | In 1 aandoening |
| IRX5iroquois homeobox 5 | Altijd | In 1 aandoening |
| JKAMPJNK1/MAPK8 associated membrane protein | Altijd | In 1 aandoening |
| KAT6Alysine acetyltransferase 6A | Altijd | In 1 aandoening |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Altijd | In 1 aandoening |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Altijd | In 2 aandoeningen |
| KCNK4potassium two pore domain channel subfamily K member 4 | Altijd | In 1 aandoening |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Altijd | In 1 aandoening |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Altijd | In 2 aandoeningen |
| KCNQ5potassium voltage-gated channel subfamily Q member 5 | Altijd | In 1 aandoening |
| KCTD7potassium channel tetramerization domain containing 7 | Altijd | In 2 aandoeningen |
| KDM4Blysine demethylase 4B | Altijd | In 1 aandoening |
| KDM5Alysine demethylase 5A | Altijd | In 1 aandoening |
| KDM6Alysine demethylase 6A | Altijd | In 3 aandoeningen |
| KICS2KICSTOR subunit 2 | Altijd | In 1 aandoening |
| KIDINS220kinase D interacting substrate 220 | Altijd | In 2 aandoeningen |
| KIF1Akinesin family member 1A | Altijd | In 2 aandoeningen |
| KIF4Akinesin family member 4A | Altijd | In 1 aandoening |
| KIFBPkinesin family binding protein | Altijd | In 2 aandoeningen |
| KLHL15kelch like family member 15 | Altijd | In 1 aandoening |
| KMT2Alysine methyltransferase 2A | Altijd | In 2 aandoeningen |
| KMT2Blysine methyltransferase 2B | Altijd | In 2 aandoeningen |
| KMT2Clysine methyltransferase 2C | Altijd | In 2 aandoeningen |
| KMT5Blysine methyltransferase 5B | Altijd | In 1 aandoening |
| KNL1kinetochore scaffold 1 | Altijd | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Altijd | In 7 aandoeningen |
| L1CAML1 cell adhesion molecule | Altijd | In 5 aandoeningen |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Altijd | In 2 aandoeningen |
| LAGE3L antigen family member 3 | Altijd | In 1 aandoening |
| LAMB1laminin subunit beta 1 | Altijd | In 1 aandoening |
| LAS1LLAS1 like ribosome biogenesis factor | Altijd | In 2 aandoeningen |
| LGI3leucine rich repeat LGI family member 3 | Altijd | In 1 aandoening |
| LINS1lines homolog 1 | 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 |
| LSSlanosterol synthase | Altijd | In 2 aandoeningen |
| LYRM7LYR motif containing 7 | Altijd | In 1 aandoening |
| LZTFL1leucine zipper transcription factor like 1 | Altijd | In 2 aandoeningen |
| MAFMAF bZIP transcription factor | Altijd | In 2 aandoeningen |
| MAGEL2MAGE family member L2 | Altijd | In 3 aandoeningen |
| MAGT1magnesium transporter 1 | Altijd | In 1 aandoening |
| MAN1B1mannosidase alpha class 1B member 1 | Altijd | In 2 aandoeningen |
| MANBAmannosidase beta | Altijd | In 2 aandoeningen |
| MAPRE2microtubule associated protein RP/EB family member 2 | Altijd | In 2 aandoeningen |
| MARK2microtubule affinity regulating kinase 2 | Altijd | In 1 aandoening |
| MARS1methionyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| MAST1microtubule associated serine/threonine kinase 1 | Altijd | In 1 aandoening |
| MAST3microtubule associated serine/threonine kinase 3 | Altijd | In 1 aandoening |
| MBD5methyl-CpG binding domain protein 5 | Altijd | In 1 aandoening |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Altijd | In 1 aandoening |
| MCPH1microcephalin 1 | Altijd | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Altijd | In 2 aandoeningen |
| MECP2methyl-CpG binding protein 2 | Altijd | In 4 aandoeningen |
| MED12mediator complex subunit 12 | Altijd | In 5 aandoeningen |
| MED12Lmediator complex subunit 12L | Altijd | In 1 aandoening |
| MED16mediator complex subunit 16 | Altijd | In 1 aandoening |
| MED23mediator complex subunit 23 | Altijd | In 1 aandoening |
| MED27mediator complex subunit 27 | Altijd | In 1 aandoening |
| MEIS2Meis homeobox 2 | Altijd | In 2 aandoeningen |
| METTL23methyltransferase 23, arginine | Altijd | In 1 aandoening |
| MID2midline 2 | Altijd | In 1 aandoening |
| MKRN3makorin ring finger protein 3 | Altijd | In 1 aandoening |
| MKS1MKS transition zone complex subunit 1 | Altijd | In 5 aandoeningen |
| MOCS3molybdenum cofactor synthesis 3 | Altijd | In 1 aandoening |
| MPLKIPM-phase specific PLK1 interacting protein | Altijd | In 1 aandoening |
| MRPS2mitochondrial ribosomal protein S2 | Altijd | In 1 aandoening |
| MSL3MSL complex subunit 3 | Altijd | In 1 aandoening |
| MTORmechanistic target of rapamycin kinase | Altijd | In 3 aandoeningen |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Altijd | In 3 aandoeningen |
| MYT1Lmyelin transcription factor 1 like | Altijd | In 2 aandoeningen |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Altijd | In 2 aandoeningen |
| NAA15N-alpha-acetyltransferase 15, NatA auxiliary subunit | Altijd | In 1 aandoening |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Altijd | In 1 aandoening |
| NACC1nucleus accumbens associated 1 | Altijd | In 1 aandoening |
| NAGLUN-acetyl-alpha-glucosaminidase | Altijd | In 1 aandoening |
| NARS1asparaginyl-tRNA synthetase 1 | Altijd | In 2 aandoeningen |
| NCDNneurochondrin | Altijd | In 1 aandoening |
| NDST1N-deacetylase and N-sulfotransferase 1 | Altijd | In 1 aandoening |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Altijd | In 1 aandoening |
| NEXMIFneurite extension and migration factor | Altijd | In 3 aandoeningen |
| NFIBnuclear factor I B | Altijd | In 1 aandoening |
| NFIXnuclear factor I X | Altijd | In 3 aandoeningen |
| NGLY1N-glycanase 1 | Altijd | In 2 aandoeningen |
| NONOnon-POU domain containing octamer binding | Altijd | In 1 aandoening |
| NOS3nitric oxide synthase 3 | Altijd | In 1 aandoening |
| NOVA2NOVA alternative splicing regulator 2 | Altijd | In 1 aandoening |
| NPAP1nuclear pore associated protein 1 | Altijd | In 1 aandoening |
| NPC1NPC intracellular cholesterol transporter 1 | Altijd | In 1 aandoening |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Altijd | In 2 aandoeningen |
| NSD2nuclear receptor binding SET domain protein 2 | Altijd | In 1 aandoening |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Altijd | In 1 aandoening |
| NSUN6NOP2/Sun RNA methyltransferase 6 | Altijd | In 1 aandoening |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Altijd | In 2 aandoeningen |
| NUP107nucleoporin 107 | Altijd | In 1 aandoening |
| NUP37nucleoporin 37 | Altijd | In 1 aandoening |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Altijd | In 2 aandoeningen |
| OGTO-linked N-acetylglucosamine (GlcNAc) transferase | Altijd | In 1 aandoening |
| OPHN1oligophrenin 1 | Altijd | In 2 aandoeningen |
| OTUD5OTU deubiquitinase 5 | Altijd | In 1 aandoening |
| OXR1oxidation resistance 1 | Altijd | In 1 aandoening |
| PACS2phosphofurin acidic cluster sorting protein 2 | Altijd | In 2 aandoeningen |
| PAK3p21 (RAC1) activated kinase 3 | Altijd | In 1 aandoening |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Altijd | In 1 aandoening |
| PDCD6IPprogrammed cell death 6 interacting protein | Altijd | In 1 aandoening |
| PDE4Dphosphodiesterase 4D | Altijd | In 3 aandoeningen |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Altijd | In 1 aandoening |
| PDZD8PDZ domain containing 8 | Altijd | In 1 aandoening |
| PEX11Bperoxisomal biogenesis factor 11 beta | Altijd | In 1 aandoening |
| PEX12peroxisomal biogenesis factor 12 | Altijd | In 1 aandoening |
| PGM2L1phosphoglucomutase 2 like 1 | Altijd | In 1 aandoening |
| PHACTR1phosphatase and actin regulator 1 | Altijd | In 1 aandoening |
| PHF21APHD finger protein 21A | Altijd | In 2 aandoeningen |
| PHF8PHD finger protein 8 | Altijd | In 1 aandoening |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Altijd | In 2 aandoeningen |
| PI4KAphosphatidylinositol 4-kinase alpha | Altijd | In 2 aandoeningen |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Altijd | In 2 aandoeningen |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Altijd | In 1 aandoening |
| PIGCphosphatidylinositol glycan anchor biosynthesis class C | Altijd | In 1 aandoening |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Altijd | In 3 aandoeningen |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Altijd | In 2 aandoeningen |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Altijd | In 1 aandoening |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Altijd | In 2 aandoeningen |
| PLK4polo like kinase 4 | Altijd | In 3 aandoeningen |
| PLP1proteolipid protein 1 | Altijd | In 3 aandoeningen |
| PNPLA6patatin like domain 6, lysophospholipase | Altijd | In 4 aandoeningen |
| POLA1DNA polymerase alpha 1, catalytic subunit | Altijd | In 2 aandoeningen |
| POLR1ARNA polymerase I subunit A | Altijd | In 1 aandoening |
| POLR3BRNA polymerase III subunit B | Altijd | In 2 aandoeningen |
| POMT1protein O-mannosyltransferase 1 | Altijd | In 5 aandoeningen |
| POU3F3POU class 3 homeobox 3 | Altijd | In 1 aandoening |
| PPFIA3PPFI scaffold protein A3 | Altijd | In 1 aandoening |
| PPOXprotoporphyrinogen oxidase | Altijd | In 1 aandoening |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Altijd | In 2 aandoeningen |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Altijd | In 1 aandoening |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Altijd | In 3 aandoeningen |
| PRDM13PR/SET domain 13 | Altijd | In 1 aandoening |
| PRODHproline dehydrogenase 1 | Altijd | In 1 aandoening |
| PRR12proline rich 12 | Altijd | In 1 aandoening |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Altijd | In 1 aandoening |
| PSPHphosphoserine phosphatase | Altijd | In 1 aandoening |
| PTDSS1phosphatidylserine synthase 1 | Altijd | In 2 aandoeningen |
| PTPAprotein phosphatase 2 phosphatase activator | Altijd | In 1 aandoening |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Altijd | In 1 aandoening |
| PUM1pumilio RNA binding family member 1 | Altijd | In 1 aandoening |
| PUS7pseudouridine synthase 7 | Altijd | In 1 aandoening |
| PWAR1Prader Willi/Angelman region RNA 1 | Altijd | In 1 aandoening |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Altijd | In 1 aandoening |
| QRICH1glutamine rich 1 | Altijd | In 1 aandoening |
| RAB11BRAB11B, member RAS oncogene family | Altijd | In 1 aandoening |
| RAB39BRAB39B, member RAS oncogene family | Altijd | In 2 aandoeningen |
| RAC1Rac family small GTPase 1 | Altijd | In 2 aandoeningen |
| RAD50RAD50 double strand break repair protein | Altijd | In 1 aandoening |
| RAD51RAD51 recombinase | Altijd | In 2 aandoeningen |
| RAI1retinoic acid induced 1 | Altijd | In 2 aandoeningen |
| RALARAS like proto-oncogene A | Altijd | In 1 aandoening |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Altijd | In 1 aandoening |
| RARBretinoic acid receptor beta | Altijd | In 1 aandoening |
| RBBP8RB binding protein 8, endonuclease | Altijd | In 2 aandoeningen |
| RBM28RNA binding motif protein 28 | Altijd | In 2 aandoeningen |
| RFX7regulatory factor X7 | Altijd | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Altijd | In 3 aandoeningen |
| RIC1RIC1 partner of RAB6A GEF complex | Altijd | In 1 aandoening |
| RLIMring finger protein, LIM domain interacting | Altijd | In 1 aandoening |
| RNU2-2RNA, U2 small nuclear 2 | Altijd | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Altijd | In 1 aandoening |
| RPL10ribosomal protein L10 | Altijd | In 1 aandoening |
| RPS6KA3ribosomal protein S6 kinase A3 | Altijd | In 3 aandoeningen |
| RRP7Aribosomal RNA processing 7 homolog A | Altijd | In 1 aandoening |
| RSPRY1ring finger and SPRY domain containing 1 | Altijd | In 2 aandoeningen |
| RSRC1arginine and serine rich coiled-coil 1 | Altijd | In 1 aandoening |
| RUBCNrubicon autophagy regulator | Altijd | In 2 aandoeningen |
| RUSC2RUN and SH3 domain containing 2 | Altijd | In 1 aandoening |
| SCAF4SR-related CTD associated factor 4 | Altijd | In 1 aandoening |
| SCAPERS-phase cyclin A associated protein in the ER | Altijd | In 2 aandoeningen |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Altijd | In 4 aandoeningen |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Altijd | In 2 aandoeningen |
| SERAC1serine active site containing 1 | Altijd | In 2 aandoeningen |
| SETD2SET domain containing 2, histone lysine methyltransferase | Altijd | In 3 aandoeningen |
| SETD5SET domain containing 5 | Altijd | In 1 aandoening |
| SLC13A1solute carrier family 13 member 1 | Altijd | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Altijd | In 9 aandoeningen |
| SLC32A1solute carrier family 32 member 1 | Altijd | In 2 aandoeningen |
| SLC38A3solute carrier family 38 member 3 | Altijd | In 2 aandoeningen |
| SLC39A8solute carrier family 39 member 8 | Altijd | In 1 aandoening |
| SLC4A4solute carrier family 4 member 4 | Altijd | In 1 aandoening |
| SLC6A1solute carrier family 6 member 1 | Altijd | In 2 aandoeningen |
| SLC6A19solute carrier family 6 member 19 | Altijd | In 2 aandoeningen |
| SLC6A8solute carrier family 6 member 8 | Altijd | In 2 aandoeningen |
| SLITRK2SLIT and NTRK like family member 2 | Altijd | In 1 aandoening |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Altijd | In 3 aandoeningen |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Altijd | In 1 aandoening |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Altijd | In 1 aandoening |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Altijd | In 1 aandoening |
| SMC3structural maintenance of chromosomes 3 | Altijd | In 2 aandoeningen |
| SMG9SMG9 nonsense mediated mRNA decay factor | Altijd | In 1 aandoening |
| SMSspermine synthase | Altijd | In 1 aandoening |
| SNF8SNF8 subunit of ESCRT-II | Altijd | In 1 aandoening |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Altijd | In 1 aandoening |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Altijd | In 1 aandoening |
| SNX14sorting nexin 14 | Altijd | In 1 aandoening |
| SONSON DNA and RNA binding protein | Altijd | In 2 aandoeningen |
| SOX10SRY-box transcription factor 10 | Altijd | In 3 aandoeningen |
| SOX4SRY-box transcription factor 4 | Altijd | In 1 aandoening |
| SOX5SRY-box transcription factor 5 | Altijd | In 2 aandoeningen |
| SPENspen family transcriptional repressor | Altijd | In 2 aandoeningen |
| SPOPspeckle type BTB/POZ protein | Altijd | In 2 aandoeningen |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altijd | In 1 aandoening |
| SPTSSAserine palmitoyltransferase small subunit A | Altijd | In 1 aandoening |
| SRD5A3steroid 5 alpha-reductase 3 | Altijd | In 2 aandoeningen |
| SSR4signal sequence receptor subunit 4 | Altijd | In 2 aandoeningen |
| STAG1STAG1 cohesin complex component | Altijd | In 2 aandoeningen |
| STEEP1STING1 ER exit protein 1 | Altijd | In 1 aandoening |
| STILSTIL centriolar assembly protein | Altijd | In 6 aandoeningen |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Altijd | In 3 aandoeningen |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Altijd | In 2 aandoeningen |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Altijd | In 2 aandoeningen |
| SVBPsmall vasohibin binding protein | Altijd | In 1 aandoening |
| SYPsynaptophysin | Altijd | In 1 aandoening |
| TACO1translational activator of cytochrome c oxidase I | Altijd | In 2 aandoeningen |
| TAF2TATA-box binding protein associated factor 2 | Altijd | In 2 aandoeningen |
| TAF6TATA-box binding protein associated factor 6 | Altijd | In 1 aandoening |
| TAF8TATA-box binding protein associated factor 8 | Altijd | In 1 aandoening |
| TANGO2transport and golgi organization 2 homolog | Altijd | In 2 aandoeningen |
| TBC1D24TBC1 domain family member 24 | Altijd | In 3 aandoeningen |
| TBCDtubulin folding cofactor D | Altijd | In 1 aandoening |
| TBCEtubulin folding cofactor E | Altijd | In 4 aandoeningen |
| TBL1XR1TBL1X/Y related 1 | Altijd | In 3 aandoeningen |
| TCEAL1transcription elongation factor A like 1 | Altijd | In 1 aandoening |
| TECPR2tectonin beta-propeller repeat containing 2 | Altijd | In 2 aandoeningen |
| TECRtrans-2,3-enoyl-CoA reductase | Altijd | In 1 aandoening |
| TELO2telomere maintenance 2 | Altijd | In 1 aandoening |
| TFE3transcription factor binding to IGHM enhancer 3 | Altijd | In 1 aandoening |
| THOC6THO complex subunit 6 | Altijd | In 1 aandoening |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Altijd | In 1 aandoening |
| TIAM1TIAM Rac1 associated GEF 1 | Altijd | In 1 aandoening |
| TLK2tousled like kinase 2 | Altijd | In 1 aandoening |
| TMEM147transmembrane protein 147 | Altijd | In 1 aandoening |
| TMEM216transmembrane protein 216 | Altijd | In 3 aandoeningen |
| TMEM67transmembrane protein 67 | Altijd | In 3 aandoeningen |
| TMLHEtrimethyllysine hydroxylase, epsilon | Altijd | In 1 aandoening |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Altijd | In 1 aandoening |
| TNIKTRAF2 and NCK interacting kinase | Altijd | In 1 aandoening |
| TNPO2transportin 2 | Altijd | In 1 aandoening |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Altijd | In 1 aandoening |
| TOE1target of EGR1, exonuclease | Altijd | In 2 aandoeningen |
| TP53tumor protein p53 | Altijd | In 1 aandoening |
| TPRKBTP53RK binding protein | Altijd | In 1 aandoening |
| TRA2Btransformer 2 beta homolog | Altijd | In 1 aandoening |
| TRAPPC14trafficking protein particle complex subunit 14 | Altijd | In 1 aandoening |
| TRAPPC9trafficking protein particle complex subunit 9 | Altijd | In 1 aandoening |
| TRIOtrio Rho guanine nucleotide exchange factor | Altijd | In 2 aandoeningen |
| TRIP12thyroid hormone receptor interactor 12 | Altijd | In 1 aandoening |
| TRMT10AtRNA methyltransferase 10A | Altijd | In 2 aandoeningen |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Altijd | In 1 aandoening |
| TSEN15tRNA splicing endonuclease subunit 15 | Altijd | In 1 aandoening |
| TSHRthyroid stimulating hormone receptor | Altijd | In 1 aandoening |
| TSPAN7tetraspanin 7 | Altijd | In 1 aandoening |
| TTC5tetratricopeptide repeat domain 5 | Altijd | In 1 aandoening |
| TTI1TELO2 interacting protein 1 | Altijd | In 1 aandoening |
| TUBBtubulin beta class I | Altijd | In 2 aandoeningen |
| TUBB2Btubulin beta 2B class IIb | Altijd | In 4 aandoeningen |
| TUBB3tubulin beta 3 class III | Altijd | In 3 aandoeningen |
| TUSC3tumor suppressor candidate 3 | Altijd | In 1 aandoening |
| UBE2Aubiquitin conjugating enzyme E2 A | Altijd | In 1 aandoening |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Altijd | In 1 aandoening |
| UFSP2UFM1 specific peptidase 2 | Altijd | In 2 aandoeningen |
| UNC13Aunc-13 homolog A | Altijd | In 1 aandoening |
| USP7ubiquitin specific peptidase 7 | Altijd | In 2 aandoeningen |
| USP9Xubiquitin specific peptidase 9 X-linked | Altijd | In 2 aandoeningen |
| VAMP2vesicle associated membrane protein 2 | Altijd | In 1 aandoening |
| VARS1valyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| VLDLRvery low density lipoprotein receptor | Altijd | In 2 aandoeningen |
| VPS13Bvacuolar protein sorting 13 homolog B | Altijd | In 2 aandoeningen |
| VPS35LVPS35 endosomal protein sorting factor like | Altijd | In 2 aandoeningen |
| VPS53VPS53 subunit of GARP complex | Altijd | In 1 aandoening |
| WARS1tryptophanyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Altijd | In 3 aandoeningen |
| WASHC4WASH complex subunit 4 | Altijd | In 1 aandoening |
| WBP4WW domain binding protein 4 | Altijd | In 1 aandoening |
| WDFY3WD repeat and FYVE domain containing 3 | Altijd | In 1 aandoening |
| WDR26WD repeat domain 26 | Altijd | In 2 aandoeningen |
| WDR37WD repeat domain 37 | Altijd | In 1 aandoening |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Altijd | In 1 aandoening |
| WDR62WD repeat domain 62 | Altijd | In 1 aandoening |
| WDR73WD repeat domain 73 | Altijd | In 2 aandoeningen |
| WDR83OSWD repeat domain 83 opposite strand | Altijd | In 1 aandoening |
| WSB2WD repeat and SOCS box containing 2 | Altijd | In 1 aandoening |
| WWOXWW domain containing oxidoreductase | Altijd | In 1 aandoening |
| YAP1Yes1 associated transcriptional regulator | Altijd | In 2 aandoeningen |
| YME1L1YME1 like 1 ATPase | Altijd | In 1 aandoening |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Altijd | In 2 aandoeningen |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Altijd | In 1 aandoening |
| YY1YY1 transcription factor | Altijd | In 1 aandoening |
| ZBTB24zinc finger and BTB domain containing 24 | Altijd | In 2 aandoeningen |
| ZBTB7Azinc finger and BTB domain containing 7A | Altijd | In 1 aandoening |
| ZC3H14zinc finger CCCH-type containing 14 | Altijd | In 1 aandoening |
| ZDHHC9zDHHC palmitoyltransferase 9 | Altijd | In 2 aandoeningen |
| ZFXzinc finger protein X-linked | Altijd | In 1 aandoening |
| ZIC1Zic family zinc finger 1 | Altijd | In 3 aandoeningen |
| ZMIZ1zinc finger MIZ-type containing 1 | Altijd | In 1 aandoening |
| ZNF668zinc finger protein 668 | Altijd | In 1 aandoening |
| ZNF711ZFX family zinc finger ZNF711 | Altijd | In 1 aandoening |
| ZSWIM6zinc finger SWIM-type containing 6 | Altijd | In 3 aandoeningen |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Heel vaak (80–99%) | In 1 aandoening |
| ACTBactin beta | Heel vaak (80–99%) | In 3 aandoeningen |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Heel vaak (80–99%) | In 1 aandoening |
| ADSLadenylosuccinate lyase | Heel vaak (80–99%) | In 2 aandoeningen |
| AFF4ALF transcription elongation factor 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| AGAaspartylglucosaminidase | Heel vaak (80–99%) | In 2 aandoeningen |
| AHSGalpha 2-HS glycoprotein | Heel vaak (80–99%) | In 1 aandoening |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Heel vaak (80–99%) | In 2 aandoeningen |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Heel vaak (80–99%) | In 2 aandoeningen |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Heel vaak (80–99%) | In 2 aandoeningen |
| ANK1ankyrin 1 | Heel vaak (80–99%) | In 1 aandoening |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| APPamyloid beta precursor protein | Heel vaak (80–99%) | In 2 aandoeningen |
| ARID2AT-rich interaction domain 2 | Heel vaak (80–99%) | In 1 aandoening |
| ARL3ARF like GTPase 3 | Heel vaak (80–99%) | In 1 aandoening |
| ATAD3AATPase family AAA domain containing 3A | Heel vaak (80–99%) | In 2 aandoeningen |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Heel vaak (80–99%) | In 4 aandoeningen |
| ATP7AATPase copper transporting alpha | Heel vaak (80–99%) | In 3 aandoeningen |
| ATP7BATPase copper transporting beta | Heel vaak (80–99%) | In 1 aandoening |
| ATRATR checkpoint kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| ATRIPATR interacting protein | Heel vaak (80–99%) | In 1 aandoening |
| AUTS2activator of transcription and developmental regulator AUTS2 | Heel vaak (80–99%) | In 2 aandoeningen |
| B3GLCTbeta 3-glucosyltransferase | Heel vaak (80–99%) | In 2 aandoeningen |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| B9D2B9 domain containing 2 | Heel vaak (80–99%) | In 1 aandoening |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Heel vaak (80–99%) | In 1 aandoening |
| BCRBCR activator of RhoGEF and GTPase | Heel vaak (80–99%) | In 1 aandoening |
| BRD4bromodomain containing 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Heel vaak (80–99%) | In 1 aandoening |
| CA8carbonic anhydrase 8 (inactive) | Heel vaak (80–99%) | In 1 aandoening |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Heel vaak (80–99%) | In 1 aandoening |
| CACNA1Icalcium voltage-gated channel subunit alpha1 I | Heel vaak (80–99%) | In 1 aandoening |
| CANT1calcium activated nucleotidase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CASKcalcium/calmodulin dependent serine protein kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| CASZ1castor zinc finger 1 | Heel vaak (80–99%) | In 1 aandoening |
| CBY1chibby 1, beta catenin antagonist | Heel vaak (80–99%) | In 1 aandoening |
| CCBE1collagen and calcium binding EGF domains 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CCDC22CCC complex scaffolding subunit CCDC22 | Heel vaak (80–99%) | In 2 aandoeningen |
| CD96CD96 molecule | Heel vaak (80–99%) | In 1 aandoening |
| CDK4cyclin dependent kinase 4 | Heel vaak (80–99%) | In 1 aandoening |
| CDKL5cyclin dependent kinase like 5 | Heel vaak (80–99%) | In 3 aandoeningen |
| CENPEcentromere protein E | Heel vaak (80–99%) | In 1 aandoening |
| CEP120centrosomal protein 120 | Heel vaak (80–99%) | In 2 aandoeningen |
| CEP41centrosomal protein 41 | Heel vaak (80–99%) | In 3 aandoeningen |
| CKAP2Lcytoskeleton associated protein 2L | Heel vaak (80–99%) | In 2 aandoeningen |
| CLIP2CAP-Gly domain containing linker protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| CLN8CLN8 transmembrane ER and ERGIC protein | Heel vaak (80–99%) | In 2 aandoeningen |
| COL4A1collagen type IV alpha 1 chain | Heel vaak (80–99%) | In 2 aandoeningen |
| CPAPcentrosome assembly and centriole elongation protein | Heel vaak (80–99%) | In 1 aandoening |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| CRKLCRK like proto-oncogene, adaptor protein | Heel vaak (80–99%) | In 1 aandoening |
| CRPPACDP-L-ribitol pyrophosphorylase A | Heel vaak (80–99%) | In 2 aandoeningen |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| CSNK2A1casein kinase 2 alpha 1 | Heel vaak (80–99%) | In 1 aandoening |
| CSPP1centrosome and spindle pole associated protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| DDB2damage specific DNA binding protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| DDHD2DDHD domain containing 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| DGCR2DiGeorge syndrome critical region gene 2 | Heel vaak (80–99%) | In 1 aandoening |
| DGCR6DiGeorge syndrome critical region gene 6 | Heel vaak (80–99%) | In 1 aandoening |
| DGCR8DGCR8 microprocessor complex subunit | Heel vaak (80–99%) | In 1 aandoening |
| DHCR2424-dehydrocholesterol reductase | Heel vaak (80–99%) | In 1 aandoening |
| DHCR77-dehydrocholesterol reductase | Heel vaak (80–99%) | In 2 aandoeningen |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Heel vaak (80–99%) | In 1 aandoening |
| DKC1dyskerin pseudouridine synthase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| DMXL2Dmx like 2 | Heel vaak (80–99%) | In 1 aandoening |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Heel vaak (80–99%) | In 1 aandoening |
| DPYDdihydropyrimidine dehydrogenase | Heel vaak (80–99%) | In 2 aandoeningen |
| DPYSL5dihydropyrimidinase like 5 | Heel vaak (80–99%) | In 1 aandoening |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Heel vaak (80–99%) | In 2 aandoeningen |
| EBF3EBF transcription factor 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Heel vaak (80–99%) | In 1 aandoening |
| EHMT1euchromatic histone lysine methyltransferase 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| EIF4Heukaryotic translation initiation factor 4H | Heel vaak (80–99%) | In 1 aandoening |
| ELMO2engulfment and cell motility 2 | Heel vaak (80–99%) | In 1 aandoening |
| ELNelastin | Heel vaak (80–99%) | In 2 aandoeningen |
| EPG5ectopic P-granules 5 autophagy tethering factor | Heel vaak (80–99%) | In 1 aandoening |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 4 aandoeningen |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 3 aandoeningen |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Heel vaak (80–99%) | In 5 aandoeningen |
| ERCC5ERCC excision repair 5, endonuclease | Heel vaak (80–99%) | In 2 aandoeningen |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Heel vaak (80–99%) | In 3 aandoeningen |
| ESS2ess-2 spliceosome associated protein | Heel vaak (80–99%) | In 1 aandoening |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Heel vaak (80–99%) | In 2 aandoeningen |
| FANCBFA complementation group B | Heel vaak (80–99%) | In 3 aandoeningen |
| FAT4FAT atypical cadherin 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| FBN1fibrillin 1 | Heel vaak (80–99%) | In 1 aandoening |
| FBXW11F-box and WD repeat domain containing 11 | Heel vaak (80–99%) | In 1 aandoening |
| FBXW7F-box and WD repeat domain containing 7 | Heel vaak (80–99%) | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Heel vaak (80–99%) | In 8 aandoeningen |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Heel vaak (80–99%) | In 1 aandoening |
| FKRPfukutin related protein | Heel vaak (80–99%) | In 4 aandoeningen |
| FKTNfukutin | Heel vaak (80–99%) | In 3 aandoeningen |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Heel vaak (80–99%) | In 2 aandoeningen |
| FOXE1forkhead box E1 | Heel vaak (80–99%) | In 1 aandoening |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Heel vaak (80–99%) | In 3 aandoeningen |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Heel vaak (80–99%) | In 2 aandoeningen |
| GBE11,4-alpha-glucan branching enzyme 1 | Heel vaak (80–99%) | In 1 aandoening |
| GMPPAGDP-mannose pyrophosphorylase A | Heel vaak (80–99%) | In 2 aandoeningen |
| GNAO1G protein subunit alpha o1 | Heel vaak (80–99%) | In 1 aandoening |
| GORABgolgin, RAB6 interacting | Heel vaak (80–99%) | In 1 aandoening |
| GPC4glypican 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| GTF2Igeneral transcription factor IIi | Heel vaak (80–99%) | In 1 aandoening |
| GTF2IRD1GTF2I repeat domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| GTF2IRD2GTF2I repeat domain containing 2 | Heel vaak (80–99%) | In 1 aandoening |
| GUSBglucuronidase beta | Heel vaak (80–99%) | In 2 aandoeningen |
| HBA1hemoglobin subunit alpha 1 | Heel vaak (80–99%) | In 1 aandoening |
| HBA2hemoglobin subunit alpha 2 | Heel vaak (80–99%) | In 1 aandoening |
| HDAC4histone deacetylase 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| HDAC8histone deacetylase 8 | Heel vaak (80–99%) | In 3 aandoeningen |
| HHAThedgehog acyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| HRASHRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 4 aandoeningen |
| HSPG2heparan sulfate proteoglycan 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Heel vaak (80–99%) | In 1 aandoening |
| IDUAalpha-L-iduronidase | Heel vaak (80–99%) | In 2 aandoeningen |
| ITGB6integrin subunit beta 6 | Heel vaak (80–99%) | In 1 aandoening |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| KAT6Blysine acetyltransferase 6B | Heel vaak (80–99%) | In 3 aandoeningen |
| KATNB1katanin regulatory subunit B1 | Heel vaak (80–99%) | In 1 aandoening |
| KATNIPkatanin interacting protein | Heel vaak (80–99%) | In 1 aandoening |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Heel vaak (80–99%) | In 1 aandoening |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Heel vaak (80–99%) | In 4 aandoeningen |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Heel vaak (80–99%) | In 1 aandoening |
| KDM5Clysine demethylase 5C | Heel vaak (80–99%) | In 1 aandoening |
| KIAA0586KIAA0586 | Heel vaak (80–99%) | In 1 aandoening |
| KIAA0753KIAA0753 | Heel vaak (80–99%) | In 2 aandoeningen |
| KIF7kinesin family member 7 | Heel vaak (80–99%) | In 3 aandoeningen |
| KMT2Dlysine methyltransferase 2D | Heel vaak (80–99%) | In 2 aandoeningen |
| KPTNkaptin, actin binding protein | Heel vaak (80–99%) | In 2 aandoeningen |
| LAMP2lysosome associated membrane protein 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| LGI1leucine rich glioma inactivated 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| LIMK1LIM domain kinase 1 | Heel vaak (80–99%) | In 1 aandoening |
| LRP2LDL receptor related protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| LUZP1leucine zipper protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| LYSTlysosomal trafficking regulator | Heel vaak (80–99%) | In 3 aandoeningen |
| MAGmyelin associated glycoprotein | Heel vaak (80–99%) | In 1 aandoening |
| MAN2B1mannosidase alpha class 2B member 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| MAP2K1mitogen-activated protein kinase kinase 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| MAP2K2mitogen-activated protein kinase kinase 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| MAPK1mitogen-activated protein kinase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| MAPK10mitogen-activated protein kinase 10 | Heel vaak (80–99%) | In 1 aandoening |
| MAU2MAU2 sister chromatid cohesion factor | Heel vaak (80–99%) | In 1 aandoening |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| MCOLN1mucolipin TRP cation channel 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| MEGF8multiple EGF like domains 8 | Heel vaak (80–99%) | In 1 aandoening |
| METTL27methyltransferase like 27 | Heel vaak (80–99%) | In 1 aandoening |
| MIR17HGmiR-17-92a-1 cluster host gene | Heel vaak (80–99%) | In 1 aandoening |
| MKKSMKKS centrosomal shuttling protein | Heel vaak (80–99%) | In 3 aandoeningen |
| MLYCDmalonyl-CoA decarboxylase | Heel vaak (80–99%) | In 1 aandoening |
| MMACHCmetabolism of cobalamin associated C | Heel vaak (80–99%) | In 2 aandoeningen |
| MMADHCmetabolism of cobalamin associated D | Heel vaak (80–99%) | In 2 aandoeningen |
| MMP23Bmatrix metallopeptidase 23B | Heel vaak (80–99%) | In 1 aandoening |
| MN1MN1 proto-oncogene, transcriptional regulator | Heel vaak (80–99%) | In 1 aandoening |
| MORC2MORC family CW-type zinc finger 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| MSL2MSL complex subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| MVKmevalonate kinase | Heel vaak (80–99%) | In 1 aandoening |
| MYO5Amyosin VA | Heel vaak (80–99%) | In 3 aandoeningen |
| NAGAalpha-N-acetylgalactosaminidase | Heel vaak (80–99%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| NDE1nudE neurodevelopment protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| NEUROD2neuronal differentiation 2 | Heel vaak (80–99%) | In 1 aandoening |
| NINninein | Heel vaak (80–99%) | In 1 aandoening |
| NIPBLNIPBL cohesin loading factor | Heel vaak (80–99%) | In 2 aandoeningen |
| NPHP1nephrocystin 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| NRASNRAS proto-oncogene, GTPase | Heel vaak (80–99%) | In 3 aandoeningen |
| NSD1nuclear receptor binding SET domain protein 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Heel vaak (80–99%) | In 2 aandoeningen |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Heel vaak (80–99%) | In 1 aandoening |
| NT5C25'-nucleotidase, cytosolic II | Heel vaak (80–99%) | In 2 aandoeningen |
| NTNG1netrin G1 | Heel vaak (80–99%) | In 1 aandoening |
| NUP85nucleoporin 85 | Heel vaak (80–99%) | In 1 aandoening |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Heel vaak (80–99%) | In 2 aandoeningen |
| OFD1OFD1 centriole and centriolar satellite protein | Heel vaak (80–99%) | In 4 aandoeningen |
| PACS1phosphofurin acidic cluster sorting protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| PARNpoly(A)-specific ribonuclease | Heel vaak (80–99%) | In 1 aandoening |
| PAX6paired box 6 | Heel vaak (80–99%) | In 3 aandoeningen |
| PCDHGC4protocadherin gamma subfamily C, 4 | Heel vaak (80–99%) | In 1 aandoening |
| PCNTpericentrin | Heel vaak (80–99%) | In 3 aandoeningen |
| PDE6Dphosphodiesterase 6D | Heel vaak (80–99%) | In 2 aandoeningen |
| PDPNpodoplanin | Heel vaak (80–99%) | In 1 aandoening |
| PEX1peroxisomal biogenesis factor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX6peroxisomal biogenesis factor 6 | Heel vaak (80–99%) | In 2 aandoeningen |
| PHF6PHD finger protein 6 | Heel vaak (80–99%) | In 1 aandoening |
| PIBF1progesterone immunomodulatory binding factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| PIDD1p53-induced death domain protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Heel vaak (80–99%) | In 2 aandoeningen |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Heel vaak (80–99%) | In 1 aandoening |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Heel vaak (80–99%) | In 1 aandoening |
| PMPCApeptidase, mitochondrial processing subunit alpha | Heel vaak (80–99%) | In 2 aandoeningen |
| PNKPpolynucleotide kinase 3'-phosphatase | Heel vaak (80–99%) | In 1 aandoening |
| POGZpogo transposable element derived with ZNF domain | Heel vaak (80–99%) | In 2 aandoeningen |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Heel vaak (80–99%) | In 2 aandoeningen |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Heel vaak (80–99%) | In 2 aandoeningen |
| POMKprotein O-mannose kinase | Heel vaak (80–99%) | In 1 aandoening |
| POMT2protein O-mannosyltransferase 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| PPFIBP1PPFIB scaffold protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Heel vaak (80–99%) | In 1 aandoening |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Heel vaak (80–99%) | In 2 aandoeningen |
| PQBP1polyglutamine binding protein 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| PRDM16PR/SET domain 16 | Heel vaak (80–99%) | In 1 aandoening |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Heel vaak (80–99%) | In 2 aandoeningen |
| PRKCZprotein kinase C zeta | Heel vaak (80–99%) | In 1 aandoening |
| PRMT7protein arginine methyltransferase 7 | Heel vaak (80–99%) | In 2 aandoeningen |
| PSMC3proteasome 26S subunit, ATPase 3 | Heel vaak (80–99%) | In 1 aandoening |
| PTCH1patched 1 | Heel vaak (80–99%) | In 9 aandoeningen |
| PTENphosphatase and tensin homolog | Heel vaak (80–99%) | In 7 aandoeningen |
| PUF60poly(U) binding splicing factor 60 | Heel vaak (80–99%) | In 1 aandoening |
| PYCR1pyrroline-5-carboxylate reductase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| PYCR2pyrroline-5-carboxylate reductase 2 | Heel vaak (80–99%) | In 1 aandoening |
| QDPRquinoid dihydropteridine reductase | Heel vaak (80–99%) | In 2 aandoeningen |
| RAB23RAB23, member RAS oncogene family | Heel vaak (80–99%) | In 2 aandoeningen |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| RAD21RAD21 cohesin complex component | Heel vaak (80–99%) | In 2 aandoeningen |
| RB1RB transcriptional corepressor 1 | Heel vaak (80–99%) | In 1 aandoening |
| RELNreelin | Heel vaak (80–99%) | In 2 aandoeningen |
| REREarginine-glutamic acid dipeptide repeats | Heel vaak (80–99%) | In 2 aandoeningen |
| RFC2replication factor C subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| RNF125ring finger protein 125 | Heel vaak (80–99%) | In 1 aandoening |
| RNU4ATACRNA, U4atac small nuclear | Heel vaak (80–99%) | In 3 aandoeningen |
| ROBO1roundabout guidance receptor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| RPGRIP1LRPGRIP1 like | Heel vaak (80–99%) | In 2 aandoeningen |
| RTEL1regulator of telomere elongation helicase 1 | Heel vaak (80–99%) | In 1 aandoening |
| RXYLT1ribitol xylosyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| SATB1SATB homeobox 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SATB2SATB homeobox 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| SGSM3small G protein signaling modulator 3 | Heel vaak (80–99%) | In 1 aandoening |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Heel vaak (80–99%) | In 2 aandoeningen |
| SIK1salt inducible kinase 1 | Heel vaak (80–99%) | In 1 aandoening |
| SIL1SIL1 nucleotide exchange factor | Heel vaak (80–99%) | In 2 aandoeningen |
| SKISKI proto-oncogene | Heel vaak (80–99%) | In 3 aandoeningen |
| SLC12A6solute carrier family 12 member 6 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC16A2solute carrier family 16 member 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC1A4solute carrier family 1 member 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC25A22solute carrier family 25 member 22 | Heel vaak (80–99%) | In 1 aandoening |
| SLC29A3solute carrier family 29 member 3 | Heel vaak (80–99%) | In 1 aandoening |
| SLC35A2solute carrier family 35 member A2 | Heel vaak (80–99%) | In 2 aandoeningen |
| SMAD4SMAD family member 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| SMC1Astructural maintenance of chromosomes 1A | Heel vaak (80–99%) | In 4 aandoeningen |
| SNAP29synaptosome associated protein 29 | Heel vaak (80–99%) | In 2 aandoeningen |
| SOSTsclerostin | Heel vaak (80–99%) | In 1 aandoening |
| SOX3SRY-box transcription factor 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| SOX6SRY-box transcription factor 6 | Heel vaak (80–99%) | In 1 aandoening |
| SP7Sp7 transcription factor | Heel vaak (80–99%) | In 1 aandoening |
| SPTBN1spectrin beta, non-erythrocytic 1 | Heel vaak (80–99%) | In 1 aandoening |
| STRA6signaling receptor and transporter of retinol STRA6 | Heel vaak (80–99%) | In 1 aandoening |
| STX1Asyntaxin 1A | Heel vaak (80–99%) | In 1 aandoening |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Heel vaak (80–99%) | In 2 aandoeningen |
| SUFUSUFU negative regulator of hedgehog signaling | Heel vaak (80–99%) | In 3 aandoeningen |
| SUMF1sulfatase modifying factor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Heel vaak (80–99%) | In 2 aandoeningen |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| SYT14synaptotagmin 14 | Heel vaak (80–99%) | In 1 aandoening |
| TAF1TATA-box binding protein associated factor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| TAF4TATA-box binding protein associated factor 4 | Heel vaak (80–99%) | In 1 aandoening |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Heel vaak (80–99%) | In 1 aandoening |
| TATtyrosine aminotransferase | Heel vaak (80–99%) | In 2 aandoeningen |
| TBC1D7TBC1 domain family member 7 | Heel vaak (80–99%) | In 2 aandoeningen |
| TBL2transducin beta like 2 | Heel vaak (80–99%) | In 1 aandoening |
| TBR1T-box brain transcription factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| TBX1T-box transcription factor 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| TCF4transcription factor 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Heel vaak (80–99%) | In 1 aandoening |
| TCTN1tectonic family member 1 | Heel vaak (80–99%) | In 1 aandoening |
| TCTN2tectonic family member 2 | Heel vaak (80–99%) | In 1 aandoening |
| TCTN3tectonic family member 3 | Heel vaak (80–99%) | In 4 aandoeningen |
| TDP2tyrosyl-DNA phosphodiesterase 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| TEFMtranscription elongation factor, mitochondrial | Heel vaak (80–99%) | In 1 aandoening |
| TERCtelomerase RNA component | Heel vaak (80–99%) | In 1 aandoening |
| TERTtelomerase reverse transcriptase | Heel vaak (80–99%) | In 1 aandoening |
| TET3tet methylcytosine dioxygenase 3 | Heel vaak (80–99%) | In 1 aandoening |
| THOC2THO complex subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| TINF2TERF1 interacting nuclear factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| TMCO1transmembrane and coiled-coil domains 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| TMEM138transmembrane protein 138 | Heel vaak (80–99%) | In 1 aandoening |
| TMEM218transmembrane protein 218 | Heel vaak (80–99%) | In 1 aandoening |
| TMEM231transmembrane protein 231 | Heel vaak (80–99%) | In 2 aandoeningen |
| TMEM237transmembrane protein 237 | Heel vaak (80–99%) | In 3 aandoeningen |
| TMEM270transmembrane protein 270 | Heel vaak (80–99%) | In 1 aandoening |
| TNFRSF11ATNF receptor superfamily member 11a | Heel vaak (80–99%) | In 1 aandoening |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Heel vaak (80–99%) | In 1 aandoening |
| TRAIPTRAF interacting protein | Heel vaak (80–99%) | In 1 aandoening |
| TRIM8tripartite motif containing 8 | Heel vaak (80–99%) | In 1 aandoening |
| TRRAPtransformation/transcription domain associated protein | Heel vaak (80–99%) | In 1 aandoening |
| TSHZ3teashirt zinc finger homeobox 3 | Heel vaak (80–99%) | In 1 aandoening |
| UBAP2Lubiquitin associated protein 2 like | Heel vaak (80–99%) | In 1 aandoening |
| UBE3Aubiquitin protein ligase E3A | Heel vaak (80–99%) | In 3 aandoeningen |
| UBE3Bubiquitin protein ligase E3B | Heel vaak (80–99%) | In 1 aandoening |
| UBE4Bubiquitination factor E4B | Heel vaak (80–99%) | In 1 aandoening |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Heel vaak (80–99%) | In 2 aandoeningen |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Heel vaak (80–99%) | In 2 aandoeningen |
| VPS37DVPS37D subunit of ESCRT-I | Heel vaak (80–99%) | In 1 aandoening |
| VPS41VPS41 subunit of HOPS complex | Heel vaak (80–99%) | In 1 aandoening |
| WACWW domain containing adaptor with coiled-coil | Heel vaak (80–99%) | In 2 aandoeningen |
| WASHC5WASH complex subunit 5 | Heel vaak (80–99%) | In 1 aandoening |
| WDR81WD repeat domain 81 | Heel vaak (80–99%) | In 2 aandoeningen |
| WLSWnt ligand secretion mediator | Heel vaak (80–99%) | In 1 aandoening |
| WNT7BWnt family member 7B | Heel vaak (80–99%) | In 1 aandoening |
| XPAXPA, DNA damage recognition and repair factor | Heel vaak (80–99%) | In 2 aandoeningen |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Heel vaak (80–99%) | In 1 aandoening |
| XYLT1xylosyltransferase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| ZBTB18zinc finger and BTB domain containing 18 | Heel vaak (80–99%) | In 2 aandoeningen |
| ZBTB20zinc finger and BTB domain containing 20 | Heel vaak (80–99%) | In 2 aandoeningen |
| ZEB2zinc finger E-box binding homeobox 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| ZMYM3zinc finger MYM-type containing 3 | Heel vaak (80–99%) | In 1 aandoening |
| ZNF142zinc finger protein 142 | Heel vaak (80–99%) | In 1 aandoening |
| ZNF423zinc finger protein 423 | Heel vaak (80–99%) | In 1 aandoening |
| ZNF592zinc finger protein 592 | Heel vaak (80–99%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| AASSaminoadipate-semialdehyde synthase | Vaak (30–79%) | In 1 aandoening |
| ABCC8ATP binding cassette subfamily C member 8 | Vaak (30–79%) | In 3 aandoeningen |
| ACTA2actin alpha 2, smooth muscle | Vaak (30–79%) | In 1 aandoening |
| ADCY3adenylate cyclase 3 | Vaak (30–79%) | In 1 aandoening |
| ADGRL1adhesion G protein-coupled receptor L1 | Vaak (30–79%) | In 1 aandoening |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Vaak (30–79%) | In 1 aandoening |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Vaak (30–79%) | In 1 aandoening |
| ANO1anoctamin 1 | Vaak (30–79%) | In 1 aandoening |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Vaak (30–79%) | In 1 aandoening |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Vaak (30–79%) | In 2 aandoeningen |
| ARL6ARF like GTPase 6 | Vaak (30–79%) | In 3 aandoeningen |
| ARSIarylsulfatase family member I | Vaak (30–79%) | In 1 aandoening |
| ASAH1N-acylsphingosine amidohydrolase 1 | Vaak (30–79%) | In 3 aandoeningen |
| ASCL1achaete-scute family bHLH transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| ASLargininosuccinate lyase | Vaak (30–79%) | In 2 aandoeningen |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Vaak (30–79%) | In 4 aandoeningen |
| ATP5F1AATP synthase F1 subunit alpha | Vaak (30–79%) | In 1 aandoening |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Vaak (30–79%) | In 2 aandoeningen |
| ATXN7L3ataxin 7 like 3 | Vaak (30–79%) | In 1 aandoening |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| BBS1Bardet-Biedl syndrome 1 | Vaak (30–79%) | In 2 aandoeningen |
| BBS4Bardet-Biedl syndrome 4 | Vaak (30–79%) | In 2 aandoeningen |
| BBS9Bardet-Biedl syndrome 9 | Vaak (30–79%) | In 2 aandoeningen |
| BDNFbrain derived neurotrophic factor | Vaak (30–79%) | In 1 aandoening |
| BMPR1Abone morphogenetic protein receptor type 1A | Vaak (30–79%) | In 1 aandoening |
| BRCA1BRCA1 DNA repair associated | Vaak (30–79%) | In 2 aandoeningen |
| BRCA2BRCA2 DNA repair associated | Vaak (30–79%) | In 1 aandoening |
| BRIP1BRCA1 interacting DNA helicase 1 | Vaak (30–79%) | In 1 aandoening |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Vaak (30–79%) | In 1 aandoening |
| BUB3BUB3 mitotic checkpoint protein | Vaak (30–79%) | In 1 aandoening |
| BUD13BUD13 spliceosome associated protein | Vaak (30–79%) | In 1 aandoening |
| C2CD3C2 domain containing 3 centriole elongation regulator | Vaak (30–79%) | In 1 aandoening |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Vaak (30–79%) | In 1 aandoening |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Vaak (30–79%) | In 1 aandoening |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Vaak (30–79%) | In 1 aandoening |
| CAMTA1calmodulin binding transcription activator 1 | Vaak (30–79%) | In 1 aandoening |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| CCDC28Bcoiled-coil domain containing 28B | Vaak (30–79%) | In 1 aandoening |
| CDC42cell division cycle 42 | Vaak (30–79%) | In 2 aandoeningen |
| CDC42BPBCDC42 binding protein kinase beta | Vaak (30–79%) | In 1 aandoening |
| CDCA7cell division cycle associated 7 | Vaak (30–79%) | In 2 aandoeningen |
| CDH2cadherin 2 | Vaak (30–79%) | In 1 aandoening |
| CDONcell adhesion associated, oncogene regulated | Vaak (30–79%) | In 7 aandoeningen |
| CEP83centrosomal protein 83 | Vaak (30–79%) | In 1 aandoening |
| CEP85Lcentrosomal protein 85L | Vaak (30–79%) | In 1 aandoening |
| CHD1chromodomain helicase DNA binding protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| CHD5chromodomain helicase DNA binding protein 5 | Vaak (30–79%) | In 1 aandoening |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Vaak (30–79%) | In 1 aandoening |
| CHSY1chondroitin sulfate synthase 1 | Vaak (30–79%) | In 1 aandoening |
| CLDN1claudin 1 | Vaak (30–79%) | In 1 aandoening |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Vaak (30–79%) | In 1 aandoening |
| CLPBClpB family mitochondrial disaggregase | Vaak (30–79%) | In 2 aandoeningen |
| COA8cytochrome c oxidase assembly factor 8 | Vaak (30–79%) | In 2 aandoeningen |
| COG2component of oligomeric golgi complex 2 | Vaak (30–79%) | In 1 aandoening |
| COG6component of oligomeric golgi complex 6 | Vaak (30–79%) | In 3 aandoeningen |
| COL3A1collagen type III alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| COLEC10collectin subfamily member 10 | Vaak (30–79%) | In 2 aandoeningen |
| COLEC11collectin subfamily member 11 | Vaak (30–79%) | In 2 aandoeningen |
| COPB2coat protein complex I subunit beta 2 | Vaak (30–79%) | In 1 aandoening |
| COPZ1coat protein complex I subunit zeta 1 | Vaak (30–79%) | In 1 aandoening |
| COX7Bcytochrome c oxidase subunit 7B | Vaak (30–79%) | In 3 aandoeningen |
| CRIPTOcripto, EGF-CFC family member | Vaak (30–79%) | In 6 aandoeningen |
| CTBP1C-terminal binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| CTHcystathionine gamma-lyase | Vaak (30–79%) | In 1 aandoening |
| CUX1cut like homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| CWC27CWC27 spliceosome associated cyclophilin | Vaak (30–79%) | In 2 aandoeningen |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Vaak (30–79%) | In 1 aandoening |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Vaak (30–79%) | In 2 aandoeningen |
| DAGLAdiacylglycerol lipase alpha | Vaak (30–79%) | In 1 aandoening |
| DALRD3DALR anticodon binding domain containing 3 | Vaak (30–79%) | In 1 aandoening |
| DCAF17DDB1 and CUL4 associated factor 17 | Vaak (30–79%) | In 1 aandoening |
| DCCDCC netrin 1 receptor | Vaak (30–79%) | In 1 aandoening |
| DDCdopa decarboxylase | Vaak (30–79%) | In 1 aandoening |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Vaak (30–79%) | In 3 aandoeningen |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Vaak (30–79%) | In 2 aandoeningen |
| DIAPH1diaphanous related formin 1 | Vaak (30–79%) | In 1 aandoening |
| DISP1dispatched RND transporter family member 1 | Vaak (30–79%) | In 6 aandoeningen |
| DLK1delta like non-canonical Notch ligand 1 | Vaak (30–79%) | In 3 aandoeningen |
| DLL1delta like canonical Notch ligand 1 | Vaak (30–79%) | In 7 aandoeningen |
| DLX5distal-less homeobox 5 | Vaak (30–79%) | In 1 aandoening |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Vaak (30–79%) | In 2 aandoeningen |
| DNMT3BDNA methyltransferase 3 beta | Vaak (30–79%) | In 2 aandoeningen |
| DOCK7dedicator of cytokinesis 7 | Vaak (30–79%) | In 1 aandoening |
| DPYSdihydropyrimidinase | Vaak (30–79%) | In 2 aandoeningen |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Vaak (30–79%) | In 1 aandoening |
| EBPEBP cholestenol delta-isomerase | Vaak (30–79%) | In 2 aandoeningen |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Vaak (30–79%) | In 1 aandoening |
| EFNB1ephrin B1 | Vaak (30–79%) | In 1 aandoening |
| EMILIN1elastin microfibril interfacer 1 | Vaak (30–79%) | In 1 aandoening |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Vaak (30–79%) | In 4 aandoeningen |
| ETHE1ETHE1 persulfide dioxygenase | Vaak (30–79%) | In 2 aandoeningen |
| EXT1exostosin glycosyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| EXTL3exostosin like glycosyltransferase 3 | Vaak (30–79%) | In 2 aandoeningen |
| FA2Hfatty acid 2-hydroxylase | Vaak (30–79%) | In 2 aandoeningen |
| FAAP100FA core complex associated protein 100 | Vaak (30–79%) | In 1 aandoening |
| FANCAFA complementation group A | Vaak (30–79%) | In 2 aandoeningen |
| FANCCFA complementation group C | Vaak (30–79%) | In 2 aandoeningen |
| FANCD2FA complementation group D2 | Vaak (30–79%) | In 2 aandoeningen |
| FANCEFA complementation group E | Vaak (30–79%) | In 2 aandoeningen |
| FANCFFA complementation group F | Vaak (30–79%) | In 1 aandoening |
| FANCGFA complementation group G | Vaak (30–79%) | In 1 aandoening |
| FANCIFA complementation group I | Vaak (30–79%) | In 1 aandoening |
| FANCLFA complementation group L | Vaak (30–79%) | In 1 aandoening |
| FANCMFA complementation group M | Vaak (30–79%) | In 1 aandoening |
| FAR1fatty acyl-CoA reductase 1 | Vaak (30–79%) | In 1 aandoening |
| FBXO22F-box protein 22 | Vaak (30–79%) | In 1 aandoening |
| FGF12fibroblast growth factor 12 | Vaak (30–79%) | In 1 aandoening |
| FGF8fibroblast growth factor 8 | Vaak (30–79%) | In 6 aandoeningen |
| FGFR2fibroblast growth factor receptor 2 | Vaak (30–79%) | In 8 aandoeningen |
| FIBPFGF1 intracellular binding protein | Vaak (30–79%) | In 1 aandoening |
| FIG4FIG4 phosphoinositide 5-phosphatase | Vaak (30–79%) | In 1 aandoening |
| FLVCR1FLVCR choline and heme transporter 1 | Vaak (30–79%) | In 2 aandoeningen |
| FOXG1forkhead box G1 | Vaak (30–79%) | In 1 aandoening |
| FOXH1forkhead box H1 | Vaak (30–79%) | In 6 aandoeningen |
| FZR1fizzy and cell division cycle 20 related 1 | Vaak (30–79%) | In 1 aandoening |
| GABBR1gamma-aminobutyric acid type B receptor subunit 1 | Vaak (30–79%) | In 1 aandoening |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Vaak (30–79%) | In 1 aandoening |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Vaak (30–79%) | In 1 aandoening |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Vaak (30–79%) | In 1 aandoening |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Vaak (30–79%) | In 2 aandoeningen |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Vaak (30–79%) | In 2 aandoeningen |
| GALEUDP-galactose-4-epimerase | Vaak (30–79%) | In 2 aandoeningen |
| GANgigaxonin | Vaak (30–79%) | In 2 aandoeningen |
| GAS1growth arrest specific 1 | Vaak (30–79%) | In 6 aandoeningen |
| GATA6GATA binding protein 6 | Vaak (30–79%) | In 1 aandoening |
| GCKglucokinase | Vaak (30–79%) | In 2 aandoeningen |
| GKglycerol kinase | Vaak (30–79%) | In 1 aandoening |
| GLI2GLI family zinc finger 2 | Vaak (30–79%) | In 6 aandoeningen |
| GLYCTKglycerate kinase | Vaak (30–79%) | In 2 aandoeningen |
| GNAQG protein subunit alpha q | Vaak (30–79%) | In 3 aandoeningen |
| GNASGNAS complex locus | Vaak (30–79%) | In 6 aandoeningen |
| GNB2G protein subunit beta 2 | Vaak (30–79%) | In 1 aandoening |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Vaak (30–79%) | In 3 aandoeningen |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Vaak (30–79%) | In 1 aandoening |
| GSSglutathione synthetase | Vaak (30–79%) | In 2 aandoeningen |
| H4C9H4 clustered histone 9 | Vaak (30–79%) | In 1 aandoening |
| HAAO3-hydroxyanthranilate 3,4-dioxygenase | Vaak (30–79%) | In 1 aandoening |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Vaak (30–79%) | In 2 aandoeningen |
| HELLShelicase, lymphoid specific | Vaak (30–79%) | In 2 aandoeningen |
| HEPACAMhepatic and glial cell adhesion molecule | Vaak (30–79%) | In 4 aandoeningen |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Vaak (30–79%) | In 1 aandoening |
| HNF4Ahepatocyte nuclear factor 4 alpha | Vaak (30–79%) | In 1 aandoening |
| HPD4-hydroxyphenylpyruvate dioxygenase | Vaak (30–79%) | In 1 aandoening |
| IBA57iron-sulfur cluster assembly factor IBA57 | Vaak (30–79%) | In 1 aandoening |
| IFNGinterferon gamma | Vaak (30–79%) | In 2 aandoeningen |
| IFT140intraflagellar transport 140 | Vaak (30–79%) | In 2 aandoeningen |
| IGF1Rinsulin like growth factor 1 receptor | Vaak (30–79%) | In 2 aandoeningen |
| INSinsulin | Vaak (30–79%) | In 1 aandoening |
| INSRinsulin receptor | Vaak (30–79%) | In 2 aandoeningen |
| IPO8importin 8 | Vaak (30–79%) | In 1 aandoening |
| ITGA7integrin subunit alpha 7 | Vaak (30–79%) | In 1 aandoening |
| IVDisovaleryl-CoA dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| JARID2jumonji and AT-rich interaction domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Vaak (30–79%) | In 2 aandoeningen |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Vaak (30–79%) | In 1 aandoening |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Vaak (30–79%) | In 2 aandoeningen |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Vaak (30–79%) | In 2 aandoeningen |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Vaak (30–79%) | In 2 aandoeningen |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Vaak (30–79%) | In 2 aandoeningen |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Vaak (30–79%) | In 1 aandoening |
| KDM2Blysine demethylase 2B | Vaak (30–79%) | In 1 aandoening |
| KDM6Blysine demethylase 6B | Vaak (30–79%) | In 1 aandoening |
| KIF11kinesin family member 11 | Vaak (30–79%) | In 1 aandoening |
| KIF15kinesin family member 15 | Vaak (30–79%) | In 1 aandoening |
| KLHL7kelch like family member 7 | Vaak (30–79%) | In 1 aandoening |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Vaak (30–79%) | In 1 aandoening |
| KYNUkynureninase | Vaak (30–79%) | In 1 aandoening |
| LAMA2laminin subunit alpha 2 | Vaak (30–79%) | In 2 aandoeningen |
| LBRlamin B receptor | Vaak (30–79%) | In 1 aandoening |
| LIG4DNA ligase 4 | Vaak (30–79%) | In 1 aandoening |
| LMAN2Llectin, mannose binding 2 like | Vaak (30–79%) | In 1 aandoening |
| LMBRD1LMBR1 domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| LMNB2lamin B2 | Vaak (30–79%) | In 1 aandoening |
| LONP1lon peptidase 1, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| LRP5LDL receptor related protein 5 | Vaak (30–79%) | In 1 aandoening |
| LZTR1leucine zipper like post translational regulator 1 | Vaak (30–79%) | In 2 aandoeningen |
| MAD2L2mitotic arrest deficient 2 like 2 | Vaak (30–79%) | In 1 aandoening |
| MAN2C1mannosidase alpha class 2C member 1 | Vaak (30–79%) | In 1 aandoening |
| MAP1Bmicrotubule associated protein 1B | Vaak (30–79%) | In 1 aandoening |
| MASP1MBL associated serine protease 1 | Vaak (30–79%) | In 1 aandoening |
| MCM3APminichromosome maintenance complex component 3 associated protein | Vaak (30–79%) | In 1 aandoening |
| MEG3maternally expressed 3 | Vaak (30–79%) | In 3 aandoeningen |
| MGME1mitochondrial genome maintenance exonuclease 1 | Vaak (30–79%) | In 2 aandoeningen |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Vaak (30–79%) | In 1 aandoening |
| MID1midline 1 | Vaak (30–79%) | In 1 aandoening |
| MLXIPLMLX interacting protein like | Vaak (30–79%) | In 1 aandoening |
| MMUTmethylmalonyl-CoA mutase | Vaak (30–79%) | In 2 aandoeningen |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Vaak (30–79%) | In 1 aandoening |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Vaak (30–79%) | In 1 aandoening |
| MTO1mitochondrial tRNA translation optimization 1 | Vaak (30–79%) | In 1 aandoening |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Vaak (30–79%) | In 2 aandoeningen |
| MYMKmyomaker, myoblast fusion factor | Vaak (30–79%) | In 1 aandoening |
| MYMXmyomixer, myoblast fusion factor | Vaak (30–79%) | In 1 aandoening |
| MYSM1Myb like, SWIRM and MPN domains 1 | Vaak (30–79%) | In 1 aandoening |
| NALCNsodium leak channel, non-selective | Vaak (30–79%) | In 1 aandoening |
| NDC1NDC1 transmembrane nucleoporin | Vaak (30–79%) | In 1 aandoening |
| NDPnorrin cystine knot growth factor NDP | Vaak (30–79%) | In 2 aandoeningen |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Vaak (30–79%) | In 1 aandoening |
| NECAP1NECAP endocytosis associated 1 | Vaak (30–79%) | In 1 aandoening |
| NECTIN1nectin cell adhesion molecule 1 | Vaak (30–79%) | In 1 aandoening |
| NEMFnuclear export mediator factor | Vaak (30–79%) | In 1 aandoening |
| NEU1neuraminidase 1 | Vaak (30–79%) | In 2 aandoeningen |
| NF1neurofibromin 1 | Vaak (30–79%) | In 4 aandoeningen |
| NFIAnuclear factor I A | Vaak (30–79%) | In 2 aandoeningen |
| NHP2NHP2 ribonucleoprotein | Vaak (30–79%) | In 2 aandoeningen |
| NHSNHS actin remodeling regulator | Vaak (30–79%) | In 1 aandoening |
| NIPA1NIPA magnesium transporter 1 | Vaak (30–79%) | In 1 aandoening |
| NIPA2NIPA magnesium transporter 2 | Vaak (30–79%) | In 1 aandoening |
| NODALnodal growth differentiation factor | Vaak (30–79%) | In 6 aandoeningen |
| NOTCH3notch receptor 3 | Vaak (30–79%) | In 2 aandoeningen |
| NRCAMneuronal cell adhesion molecule | Vaak (30–79%) | In 1 aandoening |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Vaak (30–79%) | In 2 aandoeningen |
| NUP54nucleoporin 54 | Vaak (30–79%) | In 1 aandoening |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Vaak (30–79%) | In 1 aandoening |
| PAHphenylalanine hydroxylase | Vaak (30–79%) | In 2 aandoeningen |
| PAK2p21 (RAC1) activated kinase 2 | Vaak (30–79%) | In 1 aandoening |
| PALB2partner and localizer of BRCA2 | Vaak (30–79%) | In 1 aandoening |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| PCCApropionyl-CoA carboxylase subunit alpha | Vaak (30–79%) | In 1 aandoening |
| PCCBpropionyl-CoA carboxylase subunit beta | Vaak (30–79%) | In 1 aandoening |
| PCDH19protocadherin 19 | Vaak (30–79%) | In 2 aandoeningen |
| PDGFRBplatelet derived growth factor receptor beta | Vaak (30–79%) | In 1 aandoening |
| PDX1pancreatic and duodenal homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Vaak (30–79%) | In 1 aandoening |
| PGAP2post-GPI attachment to proteins 2 | Vaak (30–79%) | In 1 aandoening |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Vaak (30–79%) | In 2 aandoeningen |
| PGK1phosphoglycerate kinase 1 | Vaak (30–79%) | In 2 aandoeningen |
| PGM3phosphoglucomutase 3 | Vaak (30–79%) | In 1 aandoening |
| PHOX2Bpaired like homeobox 2B | Vaak (30–79%) | In 1 aandoening |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Vaak (30–79%) | In 2 aandoeningen |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Vaak (30–79%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Vaak (30–79%) | In 6 aandoeningen |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Vaak (30–79%) | In 1 aandoening |
| PITRM1pitrilysin metallopeptidase 1 | Vaak (30–79%) | In 1 aandoening |
| PLAAphospholipase A2 activating protein | Vaak (30–79%) | In 1 aandoening |
| PLAAT3phospholipase A and acyltransferase 3 | Vaak (30–79%) | In 1 aandoening |
| PLCH1phospholipase C eta 1 | Vaak (30–79%) | In 1 aandoening |
| PODXLpodocalyxin like | Vaak (30–79%) | In 1 aandoening |
| POLR1CRNA polymerase I and III subunit C | Vaak (30–79%) | In 1 aandoening |
| POLRMTRNA polymerase mitochondrial | Vaak (30–79%) | In 1 aandoening |
| PORCNporcupine O-acyltransferase | Vaak (30–79%) | In 2 aandoeningen |
| PRORPprotein only RNase P catalytic subunit | Vaak (30–79%) | In 1 aandoening |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Vaak (30–79%) | In 4 aandoeningen |
| PRRT2proline rich transmembrane protein 2 | Vaak (30–79%) | In 2 aandoeningen |
| PSMB8proteasome 20S subunit beta 8 | Vaak (30–79%) | In 1 aandoening |
| PTBP1polypyrimidine tract binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| PUS1pseudouridine synthase 1 | Vaak (30–79%) | In 2 aandoeningen |
| RAD51CRAD51 paralog C | Vaak (30–79%) | In 1 aandoening |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Vaak (30–79%) | In 2 aandoeningen |
| RANBP2RAN binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| RBM10RNA binding motif protein 10 | Vaak (30–79%) | In 1 aandoening |
| RECQL4RecQ like helicase 4 | Vaak (30–79%) | In 4 aandoeningen |
| RETret proto-oncogene | Vaak (30–79%) | In 1 aandoening |
| RFWD3ring finger and WD repeat domain 3 | Vaak (30–79%) | In 1 aandoening |
| RIPK4receptor interacting serine/threonine kinase 4 | Vaak (30–79%) | In 1 aandoening |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Vaak (30–79%) | In 1 aandoening |
| RNF213ring finger protein 213 | Vaak (30–79%) | In 1 aandoening |
| RNF220ring finger protein 220 | Vaak (30–79%) | In 1 aandoening |
| RNU12RNA, U12 small nuclear | Vaak (30–79%) | In 1 aandoening |
| RTL1retrotransposon Gag like 1 | Vaak (30–79%) | In 3 aandoeningen |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Vaak (30–79%) | In 2 aandoeningen |
| SEMA3Esemaphorin 3E | Vaak (30–79%) | In 1 aandoening |
| SEPHS1selenophosphate synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| SETBP1SET binding protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| SH2B1SH2B adaptor protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Vaak (30–79%) | In 1 aandoening |
| SHHsonic hedgehog signaling molecule | Vaak (30–79%) | In 7 aandoeningen |
| SIM1SIM bHLH transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| SIN3ASIN3 transcription regulator family member A | Vaak (30–79%) | In 2 aandoeningen |
| SIX3SIX homeobox 3 | Vaak (30–79%) | In 7 aandoeningen |
| SLC13A5solute carrier family 13 member 5 | Vaak (30–79%) | In 1 aandoening |
| SLC16A1solute carrier family 16 member 1 | Vaak (30–79%) | In 1 aandoening |
| SLC1A2solute carrier family 1 member 2 | Vaak (30–79%) | In 1 aandoening |
| SLC1A3solute carrier family 1 member 3 | Vaak (30–79%) | In 1 aandoening |
| SLC25A15solute carrier family 25 member 15 | Vaak (30–79%) | In 2 aandoeningen |
| SLC35A3solute carrier family 35 member A3 | Vaak (30–79%) | In 1 aandoening |
| SLC39A14solute carrier family 39 member 14 | Vaak (30–79%) | In 2 aandoeningen |
| SLC5A7solute carrier family 5 member 7 | Vaak (30–79%) | In 1 aandoening |
| SLC7A7solute carrier family 7 member 7 | Vaak (30–79%) | In 2 aandoeningen |
| SLX4SLX4 structure-specific endonuclease subunit | Vaak (30–79%) | In 1 aandoening |
| SMOsmoothened, frizzled class receptor | Vaak (30–79%) | In 1 aandoening |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Vaak (30–79%) | In 2 aandoeningen |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Vaak (30–79%) | In 2 aandoeningen |
| SPRsepiapterin reductase | Vaak (30–79%) | In 2 aandoeningen |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Vaak (30–79%) | In 2 aandoeningen |
| SRCAPSnf2 related CREBBP activator protein | Vaak (30–79%) | In 2 aandoeningen |
| SRPX2sushi repeat containing protein X-linked 2 | Vaak (30–79%) | In 2 aandoeningen |
| STAG2STAG2 cohesin complex component | Vaak (30–79%) | In 3 aandoeningen |
| STAT3signal transducer and activator of transcription 3 | Vaak (30–79%) | In 1 aandoening |
| STSsteroid sulfatase | Vaak (30–79%) | In 3 aandoeningen |
| STXBP1syntaxin binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Vaak (30–79%) | In 1 aandoening |
| SYNJ1synaptojanin 1 | Vaak (30–79%) | In 2 aandoeningen |
| SYT1synaptotagmin 1 | Vaak (30–79%) | In 1 aandoening |
| SZT2SZT2 subunit of KICSTOR complex | Vaak (30–79%) | In 1 aandoening |
| TAOK1TAO kinase 1 | Vaak (30–79%) | In 1 aandoening |
| TBCBtubulin folding cofactor B | Vaak (30–79%) | In 1 aandoening |
| TCP1t-complex 1 | Vaak (30–79%) | In 1 aandoening |
| TGIF1TGFB induced factor homeobox 1 | Vaak (30–79%) | In 6 aandoeningen |
| TKTtransketolase | Vaak (30–79%) | In 1 aandoening |
| TMEM240transmembrane protein 240 | Vaak (30–79%) | In 2 aandoeningen |
| TONSLtonsoku like, DNA repair protein | Vaak (30–79%) | In 1 aandoening |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Vaak (30–79%) | In 1 aandoening |
| TRAF7TNF receptor associated factor 7 | Vaak (30–79%) | In 1 aandoening |
| TRAK1trafficking kinesin protein 1 | Vaak (30–79%) | In 1 aandoening |
| TRAPPC11trafficking protein particle complex subunit 11 | Vaak (30–79%) | In 3 aandoeningen |
| TRIP13thyroid hormone receptor interactor 13 | Vaak (30–79%) | In 1 aandoening |
| TRPS1transcriptional repressor GATA binding 1 | Vaak (30–79%) | In 1 aandoening |
| TSC1TSC complex subunit 1 | Vaak (30–79%) | In 3 aandoeningen |
| TSC2TSC complex subunit 2 | Vaak (30–79%) | In 3 aandoeningen |
| TUBG1tubulin gamma 1 | Vaak (30–79%) | In 1 aandoening |
| TUBGCP4tubulin gamma complex component 4 | Vaak (30–79%) | In 1 aandoening |
| TUBGCP6tubulin gamma complex component 6 | Vaak (30–79%) | In 2 aandoeningen |
| UBA5ubiquitin like modifier activating enzyme 5 | Vaak (30–79%) | In 1 aandoening |
| UBE2Tubiquitin conjugating enzyme E2 T | Vaak (30–79%) | In 1 aandoening |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Vaak (30–79%) | In 2 aandoeningen |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Vaak (30–79%) | In 1 aandoening |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Vaak (30–79%) | In 1 aandoening |
| UPB1beta-ureidopropionase 1 | Vaak (30–79%) | In 2 aandoeningen |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Vaak (30–79%) | In 1 aandoening |
| VPS33BVPS33B late endosome and lysosome associated | Vaak (30–79%) | In 1 aandoening |
| WDR45WD repeat domain 45 | Vaak (30–79%) | In 2 aandoeningen |
| WT1WT1 transcription factor | Vaak (30–79%) | In 2 aandoeningen |
| XPNPEP3X-prolyl aminopeptidase 3 | Vaak (30–79%) | In 1 aandoening |
| XRCC2X-ray repair cross complementing 2 | Vaak (30–79%) | In 1 aandoening |
| YARS2tyrosyl-tRNA synthetase 2 | Vaak (30–79%) | In 1 aandoening |
| ZFYVE26zinc finger FYVE-type containing 26 | Vaak (30–79%) | In 2 aandoeningen |
| ZIC2Zic family zinc finger 2 | Vaak (30–79%) | In 7 aandoeningen |
| ZNF699zinc finger protein 699 | Vaak (30–79%) | In 1 aandoening |
| AAASaladin WD repeat nucleoporin | Soms (5–29%) | In 2 aandoeningen |
| ACP5acid phosphatase 5, tartrate resistant | Soms (5–29%) | In 1 aandoening |
| ADRA2Badrenoceptor alpha 2B | Soms (5–29%) | In 1 aandoening |
| AGGF1angiogenic factor with G-patch and FHA domains 1 | Soms (5–29%) | In 1 aandoening |
| AIPL1AIP like 1 HSP90 co-chaperone | Soms (5–29%) | In 1 aandoening |
| AKT1AKT serine/threonine kinase 1 | Soms (5–29%) | In 1 aandoening |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Soms (5–29%) | In 2 aandoeningen |
| ALDOAaldolase, fructose-bisphosphate A | Soms (5–29%) | In 2 aandoeningen |
| ALMS1ALMS1 centrosome and basal body associated protein | Soms (5–29%) | In 1 aandoening |
| ALX4ALX homeobox 4 | Soms (5–29%) | In 3 aandoeningen |
| AMER1APC membrane recruitment protein 1 | Soms (5–29%) | In 1 aandoening |
| ANAPC1anaphase promoting complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| ANO10anoctamin 10 | Soms (5–29%) | In 1 aandoening |
| ARHGAP31Rho GTPase activating protein 31 | Soms (5–29%) | In 2 aandoeningen |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Soms (5–29%) | In 1 aandoening |
| ARVCFARVCF delta catenin family member | Soms (5–29%) | In 1 aandoening |
| ATAD1ATPase family AAA domain containing 1 | Soms (5–29%) | In 1 aandoening |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Soms (5–29%) | In 1 aandoening |
| BBS10Bardet-Biedl syndrome 10 | Soms (5–29%) | In 1 aandoening |
| BBS12Bardet-Biedl syndrome 12 | Soms (5–29%) | In 1 aandoening |
| BBS5Bardet-Biedl syndrome 5 | Soms (5–29%) | In 1 aandoening |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Soms (5–29%) | In 3 aandoeningen |
| BICD2BICD cargo adaptor 2 | Soms (5–29%) | In 1 aandoening |
| BTDbiotinidase | Soms (5–29%) | In 1 aandoening |
| CABP4calcium binding protein 4 | Soms (5–29%) | In 1 aandoening |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Soms (5–29%) | In 2 aandoeningen |
| CACNA1Hcalcium voltage-gated channel subunit alpha1 H | Soms (5–29%) | In 1 aandoening |
| CBLCbl proto-oncogene | Soms (5–29%) | In 1 aandoening |
| CCDC78coiled-coil domain containing 78 | Soms (5–29%) | In 1 aandoening |
| CDC45cell division cycle 45 | Soms (5–29%) | In 1 aandoening |
| CDC6cell division cycle 6 | Soms (5–29%) | In 1 aandoening |
| CDT1chromatin licensing and DNA replication factor 1 | Soms (5–29%) | In 1 aandoening |
| CEP19centrosomal protein 19 | Soms (5–29%) | In 2 aandoeningen |
| CFAP418cilia and flagella associated protein 418 | Soms (5–29%) | In 1 aandoening |
| CHD6chromodomain helicase DNA binding protein 6 | Soms (5–29%) | In 1 aandoening |
| CHRNA4cholinergic receptor nicotinic alpha 4 subunit | Soms (5–29%) | In 1 aandoening |
| CHST14carbohydrate sulfotransferase 14 | Soms (5–29%) | In 1 aandoening |
| CISD2CDGSH iron sulfur domain 2 | Soms (5–29%) | In 1 aandoening |
| CLTRNcollectrin, amino acid transport regulator | Soms (5–29%) | In 1 aandoening |
| CNTN2contactin 2 | Soms (5–29%) | In 1 aandoening |
| COL13A1collagen type XIII alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COL25A1collagen type XXV alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COL2A1collagen type II alpha 1 chain | Soms (5–29%) | In 2 aandoeningen |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Soms (5–29%) | In 1 aandoening |
| COMTcatechol-O-methyltransferase | Soms (5–29%) | In 1 aandoening |
| COQ8Acoenzyme Q8A | Soms (5–29%) | In 1 aandoening |
| CPA6carboxypeptidase A6 | Soms (5–29%) | In 1 aandoening |
| CRB1crumbs cell polarity complex component 1 | Soms (5–29%) | In 1 aandoening |
| CRLF1cytokine receptor like factor 1 | Soms (5–29%) | In 1 aandoening |
| CRXcone-rod homeobox | Soms (5–29%) | In 1 aandoening |
| CSF1Rcolony stimulating factor 1 receptor | Soms (5–29%) | In 1 aandoening |
| CSTBcystatin B | Soms (5–29%) | In 1 aandoening |
| CTNND2catenin delta 2 | Soms (5–29%) | In 1 aandoening |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Soms (5–29%) | In 2 aandoeningen |
| DACT1dishevelled binding antagonist of beta catenin 1 | Soms (5–29%) | In 1 aandoening |
| DHTKD1dehydrogenase E1 and transketolase domain containing 1 | Soms (5–29%) | In 1 aandoening |
| DIP2BDIP2 acetate--CoA ligase B (putative) | Soms (5–29%) | In 1 aandoening |
| DLL3delta like canonical Notch ligand 3 | Soms (5–29%) | In 1 aandoening |
| DLL4delta like canonical Notch ligand 4 | Soms (5–29%) | In 1 aandoening |
| DNAJB4DnaJ heat shock protein family (Hsp40) member B4 | Soms (5–29%) | In 1 aandoening |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Soms (5–29%) | In 1 aandoening |
| DOCK6dedicator of cytokinesis 6 | Soms (5–29%) | In 1 aandoening |
| DOLKdolichol kinase | Soms (5–29%) | In 1 aandoening |
| DONSONDNA replication fork stabilization factor DONSON | Soms (5–29%) | In 1 aandoening |
| DSG4desmoglein 4 | Soms (5–29%) | In 1 aandoening |
| DSTdystonin | Soms (5–29%) | In 1 aandoening |
| DUOX2dual oxidase 2 | Soms (5–29%) | In 1 aandoening |
| DUOXA2dual oxidase maturation factor 2 | Soms (5–29%) | In 2 aandoeningen |
| DVL1dishevelled segment polarity protein 1 | Soms (5–29%) | In 2 aandoeningen |
| DVL3dishevelled segment polarity protein 3 | Soms (5–29%) | In 1 aandoening |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Soms (5–29%) | In 1 aandoening |
| EFL1elongation factor like GTPase 1 | Soms (5–29%) | In 1 aandoening |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Soms (5–29%) | In 1 aandoening |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Soms (5–29%) | In 1 aandoening |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Soms (5–29%) | In 1 aandoening |
| EVCEvC ciliary complex subunit 1 | Soms (5–29%) | In 2 aandoeningen |
| EVC2EvC ciliary complex subunit 2 | Soms (5–29%) | In 2 aandoeningen |
| EXT2exostosin glycosyltransferase 2 | Soms (5–29%) | In 1 aandoening |
| FBP1fructose-bisphosphatase 1 | Soms (5–29%) | In 1 aandoening |
| FLNBfilamin B | Soms (5–29%) | In 2 aandoeningen |
| FOXI1forkhead box I1 | Soms (5–29%) | In 2 aandoeningen |
| FOXP2forkhead box P2 | Soms (5–29%) | In 1 aandoening |
| FRAS1Fraser extracellular matrix complex subunit 1 | Soms (5–29%) | In 2 aandoeningen |
| FREM2FRAS1 related extracellular matrix 2 | Soms (5–29%) | In 1 aandoening |
| FZD2frizzled class receptor 2 | Soms (5–29%) | In 1 aandoening |
| GAAalpha glucosidase | Soms (5–29%) | In 1 aandoening |
| GALK1galactokinase 1 | Soms (5–29%) | In 1 aandoening |
| GBA1glucosylceramidase beta 1 | Soms (5–29%) | In 1 aandoening |
| GBA2glucosylceramidase beta 2 | Soms (5–29%) | In 1 aandoening |
| GCLCglutamate-cysteine ligase catalytic subunit | Soms (5–29%) | In 1 aandoening |
| GDF6growth differentiation factor 6 | Soms (5–29%) | In 1 aandoening |
| GHRgrowth hormone receptor | Soms (5–29%) | In 1 aandoening |
| GJA1gap junction protein alpha 1 | Soms (5–29%) | In 3 aandoeningen |
| GJB3gap junction protein beta 3 | Soms (5–29%) | In 1 aandoening |
| GJB4gap junction protein beta 4 | Soms (5–29%) | In 1 aandoening |
| GLI1GLI family zinc finger 1 | Soms (5–29%) | In 1 aandoening |
| GLI3GLI family zinc finger 3 | Soms (5–29%) | In 2 aandoeningen |
| GLRA1glycine receptor alpha 1 | Soms (5–29%) | In 1 aandoening |
| GLRBglycine receptor beta | Soms (5–29%) | In 2 aandoeningen |
| GMNNgeminin DNA replication inhibitor | Soms (5–29%) | In 2 aandoeningen |
| GP1BBglycoprotein Ib platelet subunit beta | Soms (5–29%) | In 1 aandoening |
| GPC3glypican 3 | Soms (5–29%) | In 1 aandoening |
| GPC6glypican 6 | Soms (5–29%) | In 1 aandoening |
| GPHNgephyrin | Soms (5–29%) | In 1 aandoening |
| GPIglucose-6-phosphate isomerase | Soms (5–29%) | In 2 aandoeningen |
| GPR161G protein-coupled receptor 161 | Soms (5–29%) | In 1 aandoening |
| GPRC5BG protein-coupled receptor class C group 5 member B | Soms (5–29%) | In 1 aandoening |
| GRIP1glutamate receptor interacting protein 1 | Soms (5–29%) | In 1 aandoening |
| GUCY2Dguanylate cyclase 2D, retinal | Soms (5–29%) | In 2 aandoeningen |
| H19H19 imprinted maternally expressed transcript | Soms (5–29%) | In 1 aandoening |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Soms (5–29%) | In 1 aandoening |
| HCCSholocytochrome c synthase | Soms (5–29%) | In 2 aandoeningen |
| HDAC6histone deacetylase 6 | Soms (5–29%) | In 1 aandoening |
| HES7hes family bHLH transcription factor 7 | Soms (5–29%) | In 1 aandoening |
| HESX1HESX homeobox 1 | Soms (5–29%) | In 2 aandoeningen |
| HIRAhistone cell cycle regulator | Soms (5–29%) | In 1 aandoening |
| HNF1BHNF1 homeobox B | Soms (5–29%) | In 2 aandoeningen |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Soms (5–29%) | In 1 aandoening |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Soms (5–29%) | In 1 aandoening |
| IFT172intraflagellar transport 172 | Soms (5–29%) | In 2 aandoeningen |
| IFT27intraflagellar transport 27 | Soms (5–29%) | In 2 aandoeningen |
| IGF2insulin like growth factor 2 | Soms (5–29%) | In 1 aandoening |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Soms (5–29%) | In 2 aandoeningen |
| IMPDH1inosine monophosphate dehydrogenase 1 | Soms (5–29%) | In 1 aandoening |
| IQCB1IQ motif containing B1 | Soms (5–29%) | In 1 aandoening |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Soms (5–29%) | In 1 aandoening |
| IYDiodotyrosine deiodinase | Soms (5–29%) | In 2 aandoeningen |
| JMJD1Cjumonji domain containing 1C | Soms (5–29%) | In 1 aandoening |
| JRKJrk helix-turn-helix protein | Soms (5–29%) | In 2 aandoeningen |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Soms (5–29%) | In 1 aandoening |
| KDSR3-ketodihydrosphingosine reductase | Soms (5–29%) | In 1 aandoening |
| KIF21Akinesin family member 21A | Soms (5–29%) | In 1 aandoening |
| KITKIT proto-oncogene, receptor tyrosine kinase | Soms (5–29%) | In 1 aandoening |
| KRT81keratin 81 | Soms (5–29%) | In 1 aandoening |
| KRT83keratin 83 | Soms (5–29%) | In 1 aandoening |
| KRT86keratin 86 | Soms (5–29%) | In 1 aandoening |
| KYkyphoscoliosis peptidase | Soms (5–29%) | In 1 aandoening |
| LAMB2laminin subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| LCA5lebercilin LCA5 | Soms (5–29%) | In 1 aandoening |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Soms (5–29%) | In 1 aandoening |
| LHX1LIM homeobox 1 | Soms (5–29%) | In 1 aandoening |
| LHX4LIM homeobox 4 | Soms (5–29%) | In 1 aandoening |
| LIG3DNA ligase 3 | Soms (5–29%) | In 1 aandoening |
| LMBR1limb development membrane protein 1 | Soms (5–29%) | In 1 aandoening |
| LMNAlamin A/C | Soms (5–29%) | In 3 aandoeningen |
| LRATlecithin retinol acyltransferase | Soms (5–29%) | In 1 aandoening |
| LRRK1leucine rich repeat kinase 1 | Soms (5–29%) | In 1 aandoening |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Soms (5–29%) | In 1 aandoening |
| MARCHF6membrane associated ring-CH-type finger 6 | Soms (5–29%) | In 1 aandoening |
| MAT1Amethionine adenosyltransferase 1A | Soms (5–29%) | In 1 aandoening |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Soms (5–29%) | In 1 aandoening |
| MESP2mesoderm posterior bHLH transcription factor 2 | Soms (5–29%) | In 1 aandoening |
| MLC1modulator of VRAC current 1 | Soms (5–29%) | In 1 aandoening |
| MMP14matrix metallopeptidase 14 | Soms (5–29%) | In 1 aandoening |
| MMP2matrix metallopeptidase 2 | Soms (5–29%) | In 1 aandoening |
| MRASmuscle RAS oncogene homolog | Soms (5–29%) | In 1 aandoening |
| MTHFRmethylenetetrahydrofolate reductase | Soms (5–29%) | In 1 aandoening |
| MTRFRmitochondrial translation release factor in rescue | Soms (5–29%) | In 1 aandoening |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Soms (5–29%) | In 2 aandoeningen |
| NLRP3NLR family pyrin domain containing 3 | Soms (5–29%) | In 1 aandoening |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| NOTCH1notch receptor 1 | Soms (5–29%) | In 1 aandoening |
| NPRL2NPR2 like, GATOR1 complex subunit | Soms (5–29%) | In 1 aandoening |
| NPRL3NPR3 like, GATOR1 complex subunit | Soms (5–29%) | In 1 aandoening |
| NXNnucleoredoxin | Soms (5–29%) | In 1 aandoening |
| ORC1origin recognition complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| ORC4origin recognition complex subunit 4 | Soms (5–29%) | In 1 aandoening |
| ORC6origin recognition complex subunit 6 | Soms (5–29%) | In 1 aandoening |
| OTX2orthodenticle homeobox 2 | Soms (5–29%) | In 2 aandoeningen |
| PAX3paired box 3 | Soms (5–29%) | In 2 aandoeningen |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Soms (5–29%) | In 2 aandoeningen |
| PEPDpeptidase D | Soms (5–29%) | In 1 aandoening |
| PEX16peroxisomal biogenesis factor 16 | Soms (5–29%) | In 1 aandoening |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Soms (5–29%) | In 1 aandoening |
| PHOX2Apaired like homeobox 2A | Soms (5–29%) | In 1 aandoening |
| PLPBPpyridoxal phosphate binding protein | Soms (5–29%) | In 2 aandoeningen |
| PMM2phosphomannomutase 2 | Soms (5–29%) | In 1 aandoening |
| PNPpurine nucleoside phosphorylase | Soms (5–29%) | In 2 aandoeningen |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Soms (5–29%) | In 1 aandoening |
| POLGDNA polymerase gamma, catalytic subunit | Soms (5–29%) | In 2 aandoeningen |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Soms (5–29%) | In 1 aandoening |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Soms (5–29%) | In 1 aandoening |
| PRDM12PR/SET domain 12 | Soms (5–29%) | In 1 aandoening |
| PRICKLE1prickle planar cell polarity protein 1 | Soms (5–29%) | In 1 aandoening |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Soms (5–29%) | In 1 aandoening |
| PROKR2prokineticin receptor 2 | Soms (5–29%) | In 2 aandoeningen |
| PRPH2peripherin 2 | Soms (5–29%) | In 1 aandoening |
| PSEN1presenilin 1 | Soms (5–29%) | In 1 aandoening |
| PSEN2presenilin 2 | Soms (5–29%) | In 1 aandoening |
| PTCH2patched 2 | Soms (5–29%) | In 1 aandoening |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Soms (5–29%) | In 2 aandoeningen |
| PTS6-pyruvoyltetrahydropterin synthase | Soms (5–29%) | In 2 aandoeningen |
| RAPGEF2Rap guanine nucleotide exchange factor 2 | Soms (5–29%) | In 1 aandoening |
| RASA2RAS p21 protein activator 2 | Soms (5–29%) | In 1 aandoening |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Soms (5–29%) | In 1 aandoening |
| RD3RD3 regulator of GUCY2D | Soms (5–29%) | In 1 aandoening |
| RDH12retinol dehydrogenase 12 | Soms (5–29%) | In 1 aandoening |
| RIPPLY2ripply transcriptional repressor 2 | Soms (5–29%) | In 1 aandoening |
| RIT1Ras like without CAAX 1 | Soms (5–29%) | In 2 aandoeningen |
| ROR2ROR family WNT receptor 2 | Soms (5–29%) | In 2 aandoeningen |
| RPE65retinoid isomerohydrolase RPE65 | Soms (5–29%) | In 2 aandoeningen |
| RPGRIP1RPGR interacting protein 1 | Soms (5–29%) | In 1 aandoening |
| RRASRAS related | Soms (5–29%) | In 1 aandoening |
| RRAS2RAS related 2 | Soms (5–29%) | In 1 aandoening |
| RREB1ras responsive element binding protein 1 | Soms (5–29%) | In 1 aandoening |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Soms (5–29%) | In 2 aandoeningen |
| SALL1spalt like transcription factor 1 | Soms (5–29%) | In 2 aandoeningen |
| SAMD12sterile alpha motif domain containing 12 | Soms (5–29%) | In 2 aandoeningen |
| SBDSSBDS ribosome maturation factor | Soms (5–29%) | In 1 aandoening |
| SCARB2scavenger receptor class B member 2 | Soms (5–29%) | In 1 aandoening |
| SCLT1sodium channel and clathrin linker 1 | Soms (5–29%) | In 1 aandoening |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Soms (5–29%) | In 1 aandoening |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Soms (5–29%) | In 1 aandoening |
| SEC24CSEC24 homolog C, COPII component | Soms (5–29%) | In 1 aandoening |
| SECISBP2SECIS binding protein 2 | Soms (5–29%) | In 1 aandoening |
| SF3B4splicing factor 3b subunit 4 | Soms (5–29%) | In 1 aandoening |
| SLC1A1solute carrier family 1 member 1 | Soms (5–29%) | In 2 aandoeningen |
| SLC26A4solute carrier family 26 member 4 | Soms (5–29%) | In 2 aandoeningen |
| SLC2A10solute carrier family 2 member 10 | Soms (5–29%) | In 2 aandoeningen |
| SLC5A5solute carrier family 5 member 5 | Soms (5–29%) | In 2 aandoeningen |
| SLC6A5solute carrier family 6 member 5 | Soms (5–29%) | In 1 aandoening |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Soms (5–29%) | In 1 aandoening |
| SMPD1sphingomyelin phosphodiesterase 1 | Soms (5–29%) | In 3 aandoeningen |
| SNAI2snail family transcriptional repressor 2 | Soms (5–29%) | In 1 aandoening |
| SORL1sortilin related receptor 1 | Soms (5–29%) | In 1 aandoening |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Soms (5–29%) | In 2 aandoeningen |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Soms (5–29%) | In 1 aandoening |
| SOX2SRY-box transcription factor 2 | Soms (5–29%) | In 2 aandoeningen |
| SPATA7spermatogenesis associated 7 | Soms (5–29%) | In 1 aandoening |
| SPINK5serine peptidase inhibitor Kazal type 5 | Soms (5–29%) | In 1 aandoening |
| SPRED2sprouty related EVH1 domain containing 2 | Soms (5–29%) | In 1 aandoening |
| STAC3SH3 and cysteine rich domain 3 | Soms (5–29%) | In 1 aandoening |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Soms (5–29%) | In 3 aandoeningen |
| TBX6T-box transcription factor 6 | Soms (5–29%) | In 1 aandoening |
| TCF12transcription factor 12 | Soms (5–29%) | In 2 aandoeningen |
| TGthyroglobulin | Soms (5–29%) | In 2 aandoeningen |
| TGFBR2transforming growth factor beta receptor 2 | Soms (5–29%) | In 1 aandoening |
| TMEM106Btransmembrane protein 106B | Soms (5–29%) | In 1 aandoening |
| TNRC6Atrinucleotide repeat containing adaptor 6A | Soms (5–29%) | In 1 aandoening |
| TOMM40translocase of outer mitochondrial membrane 40 | Soms (5–29%) | In 1 aandoening |
| TP53RKTP53 regulating kinase | Soms (5–29%) | In 1 aandoening |
| TP63tumor protein p63 | Soms (5–29%) | In 2 aandoeningen |
| TPOthyroid peroxidase | Soms (5–29%) | In 1 aandoening |
| TREM2triggering receptor expressed on myeloid cells 2 | Soms (5–29%) | In 1 aandoening |
| TRIM32tripartite motif containing 32 | Soms (5–29%) | In 1 aandoening |
| TTC8tetratricopeptide repeat domain 8 | Soms (5–29%) | In 2 aandoeningen |
| TUBA1Atubulin alpha 1a | Soms (5–29%) | In 1 aandoening |
| TUBB4Btubulin beta 4B class IVb | Soms (5–29%) | In 1 aandoening |
| TULP1TUB like protein 1 | Soms (5–29%) | In 1 aandoening |
| TWIST1twist family bHLH transcription factor 1 | Soms (5–29%) | In 2 aandoeningen |
| TWIST2twist family bHLH transcription factor 2 | Soms (5–29%) | In 1 aandoening |
| TYMPthymidine phosphorylase | Soms (5–29%) | In 2 aandoeningen |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Soms (5–29%) | In 1 aandoening |
| UGT1A1UDP glucuronosyltransferase family 1 member A1 | Soms (5–29%) | In 1 aandoening |
| USP45ubiquitin specific peptidase 45 | Soms (5–29%) | In 1 aandoening |
| USP8ubiquitin specific peptidase 8 | Soms (5–29%) | In 1 aandoening |
| VCPvalosin containing protein | Soms (5–29%) | In 1 aandoening |
| WDPCPWD repeat containing planar cell polarity effector | Soms (5–29%) | In 1 aandoening |
| WDR11WD repeat domain 11 | Soms (5–29%) | In 1 aandoening |
| WFS1wolframin ER transmembrane glycoprotein | Soms (5–29%) | In 2 aandoeningen |
| WNT5AWnt family member 5A | Soms (5–29%) | In 2 aandoeningen |
| XYLT2xylosyltransferase 2 | Soms (5–29%) | In 1 aandoening |
| YEATS2YEATS domain containing 2 | Soms (5–29%) | In 1 aandoening |
| ZIC4Zic family zinc finger 4 | Soms (5–29%) | In 1 aandoening |
| ZMYM2zinc finger MYM-type containing 2 | Soms (5–29%) | In 1 aandoening |
| ACVR1activin A receptor type 1 | Zelden (1–4%) | In 1 aandoening |
| ANTXR1ANTXR cell adhesion molecule 1 | Zelden (1–4%) | In 1 aandoening |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Zelden (1–4%) | In 1 aandoening |
| FLGfilaggrin | Zelden (1–4%) | In 1 aandoening |
| MC2Rmelanocortin 2 receptor | Zelden (1–4%) | In 1 aandoening |
| MRAPmelanocortin 2 receptor accessory protein | Zelden (1–4%) | In 1 aandoening |
| MSX2msh homeobox 2 | Zelden (1–4%) | In 1 aandoening |
| MYRFmyelin regulatory factor | Zelden (1–4%) | In 1 aandoening |
| NKX6-2NK6 homeobox 2 | Zelden (1–4%) | In 1 aandoening |
| NNTnicotinamide nucleotide transhydrogenase | Zelden (1–4%) | In 1 aandoening |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Zelden (1–4%) | In 1 aandoening |
| RBM8ARNA binding motif protein 8A | Zelden (1–4%) | In 1 aandoening |
| RPS19ribosomal protein S19 | Zelden (1–4%) | In 1 aandoening |
| SPASTspastin | Zelden (1–4%) | In 2 aandoeningen |
| STARsteroidogenic acute regulatory protein | Zelden (1–4%) | In 1 aandoening |
| STARD7StAR related lipid transfer domain containing 7 | Zelden (1–4%) | In 1 aandoening |
| TCOF1treacle ribosome biogenesis factor 1 | Zelden (1–4%) | In 1 aandoening |
| TLR3toll like receptor 3 | Zelden (1–4%) | In 1 aandoening |
| TXNRD2thioredoxin reductase 2 | Zelden (1–4%) | In 1 aandoening |
| ABCA2ATP binding cassette subfamily A member 2 | Niet vastgelegd | In 1 aandoening |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Niet vastgelegd | In 1 aandoening |
| ACAT1acetyl-CoA acetyltransferase 1 | Niet vastgelegd | In 1 aandoening |
| ACOX1acyl-CoA oxidase 1 | Niet vastgelegd | In 1 aandoening |
| ADCY5adenylate cyclase 5 | Niet vastgelegd | In 1 aandoening |
| AFG2BAAA ATPase AFG2B | Niet vastgelegd | In 1 aandoening |
| AHCYadenosylhomocysteinase | Niet vastgelegd | In 1 aandoening |
| AKT3AKT serine/threonine kinase 3 | Niet vastgelegd | In 1 aandoening |
| ALDOBaldolase, fructose-bisphosphate B | Niet vastgelegd | In 1 aandoening |
| ALX3ALX homeobox 3 | Niet vastgelegd | In 1 aandoening |
| AMMECR1AMMECR nuclear protein 1 | Niet vastgelegd | In 1 aandoening |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Niet vastgelegd | In 1 aandoening |
| APTXaprataxin | Niet vastgelegd | In 1 aandoening |
| AQP2aquaporin 2 | Niet vastgelegd | In 1 aandoening |
| ARCN1archain 1 coat protein complex I subunit delta | Niet vastgelegd | In 1 aandoening |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Niet vastgelegd | In 1 aandoening |
| ARG1arginase 1 | Niet vastgelegd | In 1 aandoening |
| ARHGDIARho GDP dissociation inhibitor alpha | Niet vastgelegd | In 1 aandoening |
| ARID1BAT-rich interaction domain 1B | Niet vastgelegd | In 1 aandoening |
| ARSAarylsulfatase A | Niet vastgelegd | In 1 aandoening |
| ASS1argininosuccinate synthase 1 | Niet vastgelegd | In 1 aandoening |
| ASXL2ASXL transcriptional regulator 2 | Niet vastgelegd | In 1 aandoening |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Niet vastgelegd | In 1 aandoening |
| ATP5F1EATP synthase F1 subunit epsilon | Niet vastgelegd | In 1 aandoening |
| AVPR2arginine vasopressin receptor 2 | Niet vastgelegd | In 1 aandoening |
| BAP1BRCA1 associated deubiquitinase 1 | Niet vastgelegd | In 1 aandoening |
| BCKDHAbranched chain keto acid dehydrogenase E1 subunit alpha | Niet vastgelegd | In 1 aandoening |
| BLTP1bridge-like lipid transfer protein family member 1 | Niet vastgelegd | In 1 aandoening |
| BPTFbromodomain PHD finger transcription factor | Niet vastgelegd | In 1 aandoening |
| BRAT1BRCA1 associated ATM activator 1 | Niet vastgelegd | In 1 aandoening |
| BSNDbarttin CLCNK type accessory subunit beta | Niet vastgelegd | In 1 aandoening |
| CACNB4calcium voltage-gated channel auxiliary subunit beta 4 | Niet vastgelegd | In 1 aandoening |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Niet vastgelegd | In 1 aandoening |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Niet vastgelegd | In 1 aandoening |
| CERS1ceramide synthase 1 | Niet vastgelegd | In 1 aandoening |
| CHMP1Acharged multivesicular body protein 1A | Niet vastgelegd | In 1 aandoening |
| CICcapicua transcriptional repressor | Niet vastgelegd | In 1 aandoening |
| CILK1ciliogenesis associated kinase 1 | Niet vastgelegd | In 1 aandoening |
| CLCN2chloride voltage-gated channel 2 | Niet vastgelegd | In 1 aandoening |
| CLCNKAchloride voltage-gated channel Ka | Niet vastgelegd | In 1 aandoening |
| CLCNKBchloride voltage-gated channel Kb | Niet vastgelegd | In 1 aandoening |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Niet vastgelegd | In 1 aandoening |
| CLN5CLN5 lysosomal BMP synthase | Niet vastgelegd | In 1 aandoening |
| CNOT3CCR4-NOT transcription complex subunit 3 | Niet vastgelegd | In 1 aandoening |
| COQ2coenzyme Q2, polyprenyltransferase | Niet vastgelegd | In 1 aandoening |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Niet vastgelegd | In 1 aandoening |
| COX15cytochrome c oxidase assembly factor COX15 | Niet vastgelegd | In 1 aandoening |
| COX6B1cytochrome c oxidase subunit 6B1 | Niet vastgelegd | In 1 aandoening |
| CPS1carbamoyl-phosphate synthase 1 | Niet vastgelegd | In 1 aandoening |
| CTDP1CTD phosphatase 1 | Niet vastgelegd | In 1 aandoening |
| CTSDcathepsin D | Niet vastgelegd | In 1 aandoening |
| CYB5R3cytochrome b5 reductase 3 | Niet vastgelegd | In 1 aandoening |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Niet vastgelegd | In 1 aandoening |
| DCHS1dachsous cadherin-related 1 | Niet vastgelegd | In 1 aandoening |
| DCXdoublecortin | Niet vastgelegd | In 1 aandoening |
| DDX11DEAD/H-box helicase 11 | Niet vastgelegd | In 1 aandoening |
| DHX16DEAH-box helicase 16 | Niet vastgelegd | In 1 aandoening |
| DMPKDM1 protein kinase | Niet vastgelegd | In 1 aandoening |
| DOHHdeoxyhypusine hydroxylase | Niet vastgelegd | In 1 aandoening |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Niet vastgelegd | In 1 aandoening |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Niet vastgelegd | In 1 aandoening |
| EFHC1EF-hand domain containing 1 | Niet vastgelegd | In 1 aandoening |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Niet vastgelegd | In 1 aandoening |
| EMC1ER membrane protein complex subunit 1 | Niet vastgelegd | In 1 aandoening |
| EMDemerin | Niet vastgelegd | In 1 aandoening |
| ENTPD1ectonucleoside triphosphate diphosphohydrolase 1 | Niet vastgelegd | In 1 aandoening |
| FAM50Afamily with sequence similarity 50 member A | Niet vastgelegd | In 1 aandoening |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Niet vastgelegd | In 1 aandoening |
| FHL1four and a half LIM domains 1 | Niet vastgelegd | In 1 aandoening |
| FOLR1folate receptor alpha | Niet vastgelegd | In 1 aandoening |
| FRG1FSHD region gene 1 | Niet vastgelegd | In 1 aandoening |
| FRMD4AFERM domain containing 4A | Niet vastgelegd | In 1 aandoening |
| FTCDformimidoyltransferase cyclodeaminase | Niet vastgelegd | In 1 aandoening |
| GALTgalactose-1-phosphate uridylyltransferase | Niet vastgelegd | In 1 aandoening |
| GAMTguanidinoacetate N-methyltransferase | Niet vastgelegd | In 1 aandoening |
| GCH1GTP cyclohydrolase 1 | Niet vastgelegd | In 2 aandoeningen |
| GJA5gap junction protein alpha 5 | Niet vastgelegd | In 1 aandoening |
| GJA8gap junction protein alpha 8 | Niet vastgelegd | In 1 aandoening |
| GLDCglycine decarboxylase | Niet vastgelegd | In 1 aandoening |
| GLUD1glutamate dehydrogenase 1 | Niet vastgelegd | In 1 aandoening |
| GNPATglyceronephosphate O-acyltransferase | Niet vastgelegd | In 1 aandoening |
| GNSglucosamine (N-acetyl)-6-sulfatase | Niet vastgelegd | In 1 aandoening |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Niet vastgelegd | In 1 aandoening |
| GPR88G protein-coupled receptor 88 | Niet vastgelegd | In 1 aandoening |
| HADHhydroxyacyl-CoA dehydrogenase | Niet vastgelegd | In 1 aandoening |
| HCFC1host cell factor C1 | Niet vastgelegd | In 1 aandoening |
| HNMThistamine N-methyltransferase | Niet vastgelegd | In 1 aandoening |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Niet vastgelegd | In 1 aandoening |
| IFIH1interferon induced with helicase C domain 1 | Niet vastgelegd | In 1 aandoening |
| IMPDH2inosine monophosphate dehydrogenase 2 | Niet vastgelegd | In 1 aandoening |
| INPP5Kinositol polyphosphate-5-phosphatase K | Niet vastgelegd | In 1 aandoening |
| KANK1KN motif and ankyrin repeat domains 1 | Niet vastgelegd | In 1 aandoening |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Niet vastgelegd | In 1 aandoening |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Niet vastgelegd | In 1 aandoening |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Niet vastgelegd | In 1 aandoening |
| KCNK9potassium two pore domain channel subfamily K member 9 | Niet vastgelegd | In 1 aandoening |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Niet vastgelegd | In 1 aandoening |
| KDM3Blysine demethylase 3B | Niet vastgelegd | In 1 aandoening |
| KIF14kinesin family member 14 | Niet vastgelegd | In 1 aandoening |
| LDHDlactate dehydrogenase D | Niet vastgelegd | In 1 aandoening |
| LHX3LIM homeobox 3 | Niet vastgelegd | In 1 aandoening |
| MADDMAP kinase activating death domain | Niet vastgelegd | In 1 aandoening |
| MAOAmonoamine oxidase A | Niet vastgelegd | In 1 aandoening |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Niet vastgelegd | In 1 aandoening |
| MICAL1microtubule associated monooxygenase, calponin and LIM domain containing 1 | Niet vastgelegd | In 1 aandoening |
| MOCS1molybdenum cofactor synthesis 1 | Niet vastgelegd | In 1 aandoening |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Niet vastgelegd | In 1 aandoening |
| MPImannose phosphate isomerase | Niet vastgelegd | In 1 aandoening |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Niet vastgelegd | In 1 aandoening |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Niet vastgelegd | In 1 aandoening |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Niet vastgelegd | In 1 aandoening |
| NANSN-acetylneuraminate synthase | Niet vastgelegd | In 1 aandoening |
| NBNnibrin | Niet vastgelegd | In 1 aandoening |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Niet vastgelegd | In 1 aandoening |
| NKX2-5NK2 homeobox 5 | Niet vastgelegd | In 1 aandoening |
| NLGN3neuroligin 3 | Niet vastgelegd | In 2 aandoeningen |
| NLGN4Xneuroligin 4 X-linked | Niet vastgelegd | In 1 aandoening |
| NOP10NOP10 ribonucleoprotein | Niet vastgelegd | In 1 aandoening |
| NPC2NPC intracellular cholesterol transporter 2 | Niet vastgelegd | In 1 aandoening |
| NTNG2netrin G2 | Niet vastgelegd | In 1 aandoening |
| NUP62nucleoporin 62 | Niet vastgelegd | In 1 aandoening |
| OPA1OPA1 mitochondrial dynamin like GTPase | Niet vastgelegd | In 1 aandoening |
| OSGEPO-sialoglycoprotein endopeptidase | Niet vastgelegd | In 1 aandoening |
| OTCornithine transcarbamylase | Niet vastgelegd | In 1 aandoening |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Niet vastgelegd | In 1 aandoening |
| PAX2paired box 2 | Niet vastgelegd | In 1 aandoening |
| PCpyruvate carboxylase | Niet vastgelegd | In 1 aandoening |
| PCGF2polycomb group ring finger 2 | Niet vastgelegd | In 1 aandoening |
| PDE10Aphosphodiesterase 10A | Niet vastgelegd | In 1 aandoening |
| PDHXpyruvate dehydrogenase complex component X | Niet vastgelegd | In 1 aandoening |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Niet vastgelegd | In 1 aandoening |
| PEX2peroxisomal biogenesis factor 2 | Niet vastgelegd | In 1 aandoening |
| PEX5peroxisomal biogenesis factor 5 | Niet vastgelegd | In 2 aandoeningen |
| PEX7peroxisomal biogenesis factor 7 | Niet vastgelegd | In 2 aandoeningen |
| PHGDHphosphoglycerate dehydrogenase | Niet vastgelegd | In 1 aandoening |
| PISDphosphatidylserine decarboxylase | Niet vastgelegd | In 1 aandoening |
| PITX3paired like homeodomain 3 | Niet vastgelegd | In 1 aandoening |
| PLA2G6phospholipase A2 group VI | Niet vastgelegd | In 1 aandoening |
| PMPCBpeptidase, mitochondrial processing subunit beta | Niet vastgelegd | In 1 aandoening |
| POLR3ARNA polymerase III subunit A | Niet vastgelegd | In 1 aandoening |
| PORcytochrome p450 oxidoreductase | Niet vastgelegd | In 1 aandoening |
| POU1F1POU class 1 homeobox 1 | Niet vastgelegd | In 1 aandoening |
| PPT1palmitoyl-protein thioesterase 1 | Niet vastgelegd | In 1 aandoening |
| PRDX1peroxiredoxin 1 | Niet vastgelegd | In 1 aandoening |
| PRODH2proline dehydrogenase 2 | Niet vastgelegd | In 1 aandoening |
| PTCHD1patched domain containing 1 | Niet vastgelegd | In 1 aandoening |
| PTRH2peptidyl-tRNA hydrolase 2 | Niet vastgelegd | In 1 aandoening |
| PURApurine rich element binding protein A | Niet vastgelegd | In 1 aandoening |
| RBMXRNA binding motif protein X-linked | Niet vastgelegd | In 1 aandoening |
| ROGDIrogdi atypical leucine zipper | Niet vastgelegd | In 1 aandoening |
| RORARAR related orphan receptor A | Niet vastgelegd | In 1 aandoening |
| SACSsacsin molecular chaperone | Niet vastgelegd | In 1 aandoening |
| SAR1Bsecretion associated Ras related GTPase 1B | Niet vastgelegd | In 1 aandoening |
| SCO1synthesis of cytochrome C oxidase 1 | Niet vastgelegd | In 1 aandoening |
| SCO2synthesis of cytochrome C oxidase 2 | Niet vastgelegd | In 1 aandoening |
| SETSET nuclear proto-oncogene | Niet vastgelegd | In 1 aandoening |
| SF3B2splicing factor 3b subunit 2 | Niet vastgelegd | In 1 aandoening |
| SGSHN-sulfoglucosamine sulfohydrolase | Niet vastgelegd | In 1 aandoening |
| SLC12A1solute carrier family 12 member 1 | Niet vastgelegd | In 1 aandoening |
| SLC12A5solute carrier family 12 member 5 | Niet vastgelegd | In 1 aandoening |
| SLC17A5solute carrier family 17 member 5 | Niet vastgelegd | In 1 aandoening |
| SLC35A1solute carrier family 35 member A1 | Niet vastgelegd | In 1 aandoening |
| SLC35C1solute carrier family 35 member C1 | Niet vastgelegd | In 1 aandoening |
| SLC36A2solute carrier family 36 member 2 | Niet vastgelegd | In 1 aandoening |
| SLC46A1solute carrier family 46 member 1 | Niet vastgelegd | In 1 aandoening |
| SLC9A6solute carrier family 9 member A6 | Niet vastgelegd | In 1 aandoening |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Niet vastgelegd | In 1 aandoening |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Niet vastgelegd | In 1 aandoening |
| SMOC1SPARC related modular calcium binding 1 | Niet vastgelegd | In 1 aandoening |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Niet vastgelegd | In 1 aandoening |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Niet vastgelegd | In 1 aandoening |
| STRADASTE20 related adaptor alpha | Niet vastgelegd | In 1 aandoening |
| SURF1SURF1 cytochrome c oxidase assembly factor | Niet vastgelegd | In 1 aandoening |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Niet vastgelegd | In 1 aandoening |
| TCN2transcobalamin 2 | Niet vastgelegd | In 1 aandoening |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Niet vastgelegd | In 1 aandoening |
| TENM3teneurin transmembrane protein 3 | Niet vastgelegd | In 1 aandoening |
| TGFBR1transforming growth factor beta receptor 1 | Niet vastgelegd | In 1 aandoening |
| TK2thymidine kinase 2 | Niet vastgelegd | In 1 aandoening |
| TMEM107transmembrane protein 107 | Niet vastgelegd | In 1 aandoening |
| TMEM43transmembrane protein 43 | Niet vastgelegd | In 1 aandoening |
| TNNT1troponin T1, slow skeletal type | Niet vastgelegd | In 1 aandoening |
| TRIT1tRNA isopentenyltransferase 1 | Niet vastgelegd | In 1 aandoening |
| TSHBthyroid stimulating hormone subunit beta | Niet vastgelegd | In 1 aandoening |
| TUBB4Atubulin beta 4A class IVa | Niet vastgelegd | In 1 aandoening |
| TWNKtwinkle mtDNA helicase | Niet vastgelegd | In 1 aandoening |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Niet vastgelegd | In 1 aandoening |
| UFM1ubiquitin fold modifier 1 | Niet vastgelegd | In 1 aandoening |
| USP27Xubiquitin specific peptidase 27 X-linked | Niet vastgelegd | In 1 aandoening |
| VRK1VRK serine/threonine kinase 1 | Niet vastgelegd | In 1 aandoening |
| VWA3Bvon Willebrand factor A domain containing 3B | Niet vastgelegd | In 1 aandoening |
| WNK3WNK lysine deficient protein kinase 3 | Niet vastgelegd | In 1 aandoening |
| YY1AP1YY1 associated protein 1 | Niet vastgelegd | In 1 aandoening |
| ZNF148zinc finger protein 148 | Niet vastgelegd | In 1 aandoening |
| ZNF292zinc finger protein 292 | 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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