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Kenmerk
Faltering weight
Klinische naam: Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Samenvatting
- Ook bekend als
- Poor weight gain, Undergrowth, Weight faltering, FTT, Postnatal failure to thrive
- Lichaamssysteem
- Growth abnormality
Faltering weightHP:0001508
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Mijn Genome Test bestellen1.083 genen gekoppeld aan Faltering weight
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Faltering weight 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 |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Altijd | In 2 aandoeningen |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| ABCD4ATP binding cassette subfamily D member 4 | Altijd | In 1 aandoening |
| ACSL5acyl-CoA synthetase long chain family member 5 | Altijd | In 1 aandoening |
| ADAadenosine deaminase | Altijd | In 3 aandoeningen |
| ADKadenosine kinase | Altijd | In 1 aandoening |
| AGR2anterior gradient 2, protein disulphide isomerase family member | Altijd | In 1 aandoening |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Altijd | In 1 aandoening |
| ALADaminolevulinate dehydratase | Altijd | In 1 aandoening |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Altijd | In 1 aandoening |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Altijd | In 2 aandoeningen |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Altijd | In 2 aandoeningen |
| ALPK3alpha kinase 3 | Altijd | In 1 aandoening |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Altijd | In 1 aandoening |
| ASXL1ASXL transcriptional regulator 1 | Altijd | In 1 aandoening |
| ASXL3ASXL transcriptional regulator 3 | Altijd | In 1 aandoening |
| ATP5F1BATP synthase F1 subunit beta | Altijd | In 1 aandoening |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Altijd | In 1 aandoening |
| ATP6V1AATPase H+ transporting V1 subunit A | Altijd | In 3 aandoeningen |
| ATP6V1B1ATPase H+ transporting V1 subunit B1 | Altijd | In 1 aandoening |
| ATP9AATPase phospholipid transporting 9A | Altijd | In 1 aandoening |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Altijd | In 1 aandoening |
| B3GALT6beta-1,3-galactosyltransferase 6 | Altijd | In 1 aandoening |
| BCAP31B cell receptor associated protein 31 | Altijd | In 2 aandoeningen |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Altijd | In 1 aandoening |
| BORCS8BLOC-1 related complex subunit 8 | Altijd | In 1 aandoening |
| C2orf69chromosome 2 open reading frame 69 | Altijd | In 1 aandoening |
| CA12carbonic anhydrase 12 | Altijd | In 1 aandoening |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Altijd | In 1 aandoening |
| CARMIL2capping protein regulator and myosin 1 linker 2 | Altijd | In 1 aandoening |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| CASP8caspase 8 | Altijd | In 1 aandoening |
| CCT3chaperonin containing TCP1 subunit 3 | Altijd | In 1 aandoening |
| CD79ACD79a molecule | Altijd | In 2 aandoeningen |
| CDC6cell division cycle 6 | Altijd | In 2 aandoeningen |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Altijd | In 1 aandoening |
| CLMPCXADR like cell adhesion molecule | Altijd | In 1 aandoening |
| COG7component of oligomeric golgi complex 7 | Altijd | In 2 aandoeningen |
| COQ4coenzyme Q4 | Altijd | In 1 aandoening |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Altijd | In 2 aandoeningen |
Toon nog 1.043 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| COX15cytochrome c oxidase assembly factor COX15 | Altijd | In 1 aandoening |
| COX4I1cytochrome c oxidase subunit 4I1 | Altijd | In 1 aandoening |
| COX4I2cytochrome c oxidase subunit 4I2 | Altijd | In 1 aandoening |
| COX6B1cytochrome c oxidase subunit 6B1 | Altijd | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Altijd | In 3 aandoeningen |
| CSF2RAcolony stimulating factor 2 receptor subunit alpha | Altijd | In 1 aandoening |
| CUL3cullin 3 | Altijd | In 1 aandoening |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Altijd | In 1 aandoening |
| DCLRE1CDNA cross-link repair 1C | Altijd | In 4 aandoeningen |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Altijd | In 2 aandoeningen |
| DGUOKdeoxyguanosine kinase | Altijd | In 1 aandoening |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Altijd | In 3 aandoeningen |
| DHRS3dehydrogenase/reductase 3 | Altijd | In 1 aandoening |
| DHRSXdehydrogenase/reductase X-linked | Altijd | In 1 aandoening |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Altijd | In 1 aandoening |
| DNM1Ldynamin 1L | Altijd | In 1 aandoening |
| DONSONDNA replication fork stabilization factor DONSON | Altijd | In 1 aandoening |
| DPP9dipeptidyl peptidase 9 | Altijd | In 1 aandoening |
| DRG1developmentally regulated GTP binding protein 1 | Altijd | In 1 aandoening |
| DSG1desmoglein 1 | Altijd | In 1 aandoening |
| DSTdystonin | Altijd | In 1 aandoening |
| EBPEBP cholestenol delta-isomerase | Altijd | In 3 aandoeningen |
| EGFRepidermal growth factor receptor | Altijd | In 1 aandoening |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altijd | In 1 aandoening |
| EN1engrailed homeobox 1 | Altijd | In 1 aandoening |
| EP300EP300 lysine acetyltransferase | Altijd | In 2 aandoeningen |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Altijd | In 3 aandoeningen |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Altijd | In 3 aandoeningen |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Altijd | In 2 aandoeningen |
| FAAP100FA core complex associated protein 100 | Altijd | In 1 aandoening |
| FANCFFA complementation group F | Altijd | In 1 aandoening |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Altijd | In 1 aandoening |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Altijd | In 1 aandoening |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Altijd | In 1 aandoening |
| FBXO22F-box protein 22 | Altijd | In 1 aandoening |
| FDXRferredoxin reductase | Altijd | In 2 aandoeningen |
| FLNAfilamin A | Altijd | In 2 aandoeningen |
| FLT3LGfms related receptor tyrosine kinase 3 ligand | Altijd | In 1 aandoening |
| FOXN1forkhead box N1 | Altijd | In 2 aandoeningen |
| FTH1ferritin heavy chain 1 | Altijd | In 1 aandoening |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Altijd | In 1 aandoening |
| FUCA1alpha-L-fucosidase 1 | Altijd | In 2 aandoeningen |
| FUT8fucosyltransferase 8 | Altijd | In 1 aandoening |
| FZR1fizzy and cell division cycle 20 related 1 | Altijd | In 2 aandoeningen |
| GBA1glucosylceramidase beta 1 | Altijd | In 2 aandoeningen |
| GLB1galactosidase beta 1 | Altijd | In 1 aandoening |
| GLYCTKglycerate kinase | Altijd | In 1 aandoening |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Altijd | In 2 aandoeningen |
| GOLGA2golgin A2 | Altijd | In 1 aandoening |
| GPIHBP1glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 | Altijd | In 1 aandoening |
| GTF2H5general transcription factor IIH subunit 5 | Altijd | In 1 aandoening |
| GUK1guanylate kinase 1 | Altijd | In 1 aandoening |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Altijd | In 2 aandoeningen |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Altijd | In 1 aandoening |
| HTRA2HtrA serine peptidase 2 | Altijd | In 1 aandoening |
| IARS1isoleucyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| IFT140intraflagellar transport 140 | Altijd | In 1 aandoening |
| IKZF2IKAROS family zinc finger 2 | Altijd | In 1 aandoening |
| IL21interleukin 21 | Altijd | In 1 aandoening |
| IL2RBinterleukin 2 receptor subunit beta | Altijd | In 2 aandoeningen |
| INSRinsulin receptor | Altijd | In 2 aandoeningen |
| IRF4interferon regulatory factor 4 | Altijd | In 1 aandoening |
| IRF8interferon regulatory factor 8 | Altijd | In 1 aandoening |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Altijd | In 1 aandoening |
| JAK1Janus kinase 1 | Altijd | In 1 aandoening |
| JAK3Janus kinase 3 | Altijd | In 1 aandoening |
| KARS1lysyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| KDM2Blysine demethylase 2B | Altijd | In 1 aandoening |
| KDM5Clysine demethylase 5C | Altijd | In 1 aandoening |
| LBRlamin B receptor | Altijd | In 1 aandoening |
| LCKLCK proto-oncogene, Src family tyrosine kinase | Altijd | In 1 aandoening |
| LIPAlipase A, lysosomal acid type | Altijd | In 2 aandoeningen |
| LPIN2lipin 2 | Altijd | In 2 aandoeningen |
| LRRK1leucine rich repeat kinase 1 | Altijd | In 1 aandoening |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Altijd | In 1 aandoening |
| LYRM4LYR motif containing 4 | Altijd | In 1 aandoening |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Altijd | In 1 aandoening |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Altijd | In 1 aandoening |
| MCEEmethylmalonyl-CoA epimerase | Altijd | In 1 aandoening |
| MED17mediator complex subunit 17 | Altijd | In 1 aandoening |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Altijd | In 2 aandoeningen |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Altijd | In 1 aandoening |
| MIPEPmitochondrial intermediate peptidase | Altijd | In 1 aandoening |
| MPImannose phosphate isomerase | Altijd | In 2 aandoeningen |
| MRPL12mitochondrial ribosomal protein L12 | Altijd | In 1 aandoening |
| MRPS14mitochondrial ribosomal protein S14 | Altijd | In 1 aandoening |
| MRPS28mitochondrial ribosomal protein S28 | Altijd | In 1 aandoening |
| MSMO1methylsterol monooxygenase 1 | Altijd | In 1 aandoening |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Altijd | In 1 aandoening |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Altijd | In 2 aandoeningen |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Altijd | In 2 aandoeningen |
| NADK2NAD kinase 2, mitochondrial | Altijd | In 2 aandoeningen |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Altijd | In 1 aandoening |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Altijd | In 2 aandoeningen |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Altijd | In 2 aandoeningen |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Altijd | In 2 aandoeningen |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Altijd | In 2 aandoeningen |
| NEUROG3neurogenin 3 | Altijd | In 1 aandoening |
| NFIAnuclear factor I A | Altijd | In 1 aandoening |
| NFKBIANFKB inhibitor alpha | Altijd | In 2 aandoeningen |
| NHEJ1non-homologous end joining factor 1 | Altijd | In 1 aandoening |
| NLRC4NLR family CARD domain containing 4 | Altijd | In 1 aandoening |
| NOTCH3notch receptor 3 | Altijd | In 1 aandoening |
| NSUN3NOP2/Sun RNA methyltransferase 3 | Altijd | In 1 aandoening |
| NUP214nucleoporin 214 | Altijd | In 1 aandoening |
| OSGEPO-sialoglycoprotein endopeptidase | Altijd | In 1 aandoening |
| OTX2orthodenticle homeobox 2 | Altijd | In 1 aandoening |
| PDX1pancreatic and duodenal homeobox 1 | Altijd | In 2 aandoeningen |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Altijd | In 1 aandoening |
| PLAAphospholipase A2 activating protein | Altijd | In 2 aandoeningen |
| PLCB4phospholipase C beta 4 | Altijd | In 1 aandoening |
| POLR1ARNA polymerase I subunit A | Altijd | In 1 aandoening |
| POLR3KRNA polymerase III subunit K | Altijd | In 1 aandoening |
| POU1F1POU class 1 homeobox 1 | Altijd | In 1 aandoening |
| PRMT7protein arginine methyltransferase 7 | Altijd | In 1 aandoening |
| PSMC1proteasome 26S subunit, ATPase 1 | Altijd | In 1 aandoening |
| PTBP1polypyrimidine tract binding protein 1 | Altijd | In 1 aandoening |
| PTRH2peptidyl-tRNA hydrolase 2 | Altijd | In 2 aandoeningen |
| PYCR1pyrroline-5-carboxylate reductase 1 | Altijd | In 1 aandoening |
| RAG1recombination activating 1 | Altijd | In 4 aandoeningen |
| RAG2recombination activating 2 | Altijd | In 4 aandoeningen |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| RASGRP1RAS guanyl releasing protein 1 | Altijd | In 1 aandoening |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Altijd | In 1 aandoening |
| RFC4replication factor C subunit 4 | Altijd | In 1 aandoening |
| RFT1RFT1 glycolipid translocator homolog | Altijd | In 2 aandoeningen |
| RFX5regulatory factor X5 | Altijd | In 2 aandoeningen |
| RNF13ring finger protein 13 | Altijd | In 2 aandoeningen |
| RNU6ATACRNA, U6atac small nuclear | Altijd | In 1 aandoening |
| RPL17ribosomal protein L17 | Altijd | In 1 aandoening |
| RRAGCRas related GTP binding C | Altijd | In 1 aandoening |
| RYR1ryanodine receptor 1 | Altijd | In 2 aandoeningen |
| SARS2seryl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| SCO1synthesis of cytochrome C oxidase 1 | Altijd | In 2 aandoeningen |
| SCO2synthesis of cytochrome C oxidase 2 | Altijd | In 2 aandoeningen |
| SEC31ASEC31 homolog A, COPII component | Altijd | In 1 aandoening |
| SGO1shugoshin 1 | Altijd | In 1 aandoening |
| SGSM3small G protein signaling modulator 3 | Altijd | In 1 aandoening |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Altijd | In 1 aandoening |
| SLC25A19solute carrier family 25 member 19 | Altijd | In 1 aandoening |
| SLC25A21solute carrier family 25 member 21 | Altijd | In 1 aandoening |
| SLC25A24solute carrier family 25 member 24 | Altijd | In 2 aandoeningen |
| SLC37A4solute carrier family 37 member 4 | Altijd | In 2 aandoeningen |
| SLC51Asolute carrier family 51 member A | Altijd | In 1 aandoening |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Altijd | In 1 aandoening |
| SMOC1SPARC related modular calcium binding 1 | Altijd | In 2 aandoeningen |
| SMPD1sphingomyelin phosphodiesterase 1 | Altijd | In 2 aandoeningen |
| SNAP29synaptosome associated protein 29 | Altijd | In 1 aandoening |
| SOX17SRY-box transcription factor 17 | Altijd | In 1 aandoening |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altijd | In 1 aandoening |
| SPTSSAserine palmitoyltransferase small subunit A | Altijd | In 2 aandoeningen |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Altijd | In 1 aandoening |
| STAG2STAG2 cohesin complex component | Altijd | In 3 aandoeningen |
| STAT5Bsignal transducer and activator of transcription 5B | Altijd | In 1 aandoening |
| STING1stimulator of interferon response cGAMP interactor 1 | Altijd | In 1 aandoening |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Altijd | In 2 aandoeningen |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Altijd | In 2 aandoeningen |
| SURF1SURF1 cytochrome c oxidase assembly factor | Altijd | In 1 aandoening |
| SV2Asynaptic vesicle glycoprotein 2A | Altijd | In 1 aandoening |
| TACO1translational activator of cytochrome c oxidase I | Altijd | In 1 aandoening |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Altijd | In 2 aandoeningen |
| TCN2transcobalamin 2 | Altijd | In 1 aandoening |
| TCP1t-complex 1 | Altijd | In 1 aandoening |
| TGthyroglobulin | Altijd | In 1 aandoening |
| TMEM165transmembrane protein 165 | Altijd | In 1 aandoening |
| TNFRSF11BTNF receptor superfamily member 11b | Altijd | In 1 aandoening |
| TOP2BDNA topoisomerase II beta | Altijd | In 1 aandoening |
| TRACT cell receptor alpha constant | Altijd | In 1 aandoening |
| TRMT10CtRNA methyltransferase 10C, mitochondrial RNase P subunit | Altijd | In 1 aandoening |
| UBA2ubiquitin like modifier activating enzyme 2 | Altijd | In 1 aandoening |
| UBE3Bubiquitin protein ligase E3B | Altijd | In 2 aandoeningen |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Altijd | In 1 aandoening |
| UNC13Aunc-13 homolog A | Altijd | In 1 aandoening |
| UQCC2ubiquinol-cytochrome c reductase complex assembly factor 2 | Altijd | In 1 aandoening |
| VHLvon Hippel-Lindau tumor suppressor | Altijd | In 1 aandoening |
| VPS45vacuolar protein sorting 45 homolog | Altijd | In 1 aandoening |
| VPS51VPS51 subunit of GARP complex | Altijd | In 1 aandoening |
| WASWASP actin nucleation promoting factor | Altijd | In 1 aandoening |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Altijd | In 1 aandoening |
| WDR83OSWD repeat domain 83 opposite strand | Altijd | In 1 aandoening |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Altijd | In 1 aandoening |
| ZNF668zinc finger protein 668 | Altijd | In 1 aandoening |
| ABCC8ATP binding cassette subfamily C member 8 | Heel vaak (80–99%) | In 2 aandoeningen |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Heel vaak (80–99%) | In 1 aandoening |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Heel vaak (80–99%) | In 1 aandoening |
| ACTBactin beta | Heel vaak (80–99%) | In 2 aandoeningen |
| ACTG1actin gamma 1 | Heel vaak (80–99%) | In 1 aandoening |
| ADAT3adenosine deaminase tRNA specific 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| ANTXR2ANTXR cell adhesion molecule 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| ARHGAP31Rho GTPase activating protein 31 | Heel vaak (80–99%) | In 1 aandoening |
| ASCL1achaete-scute family bHLH transcription factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Heel vaak (80–99%) | In 4 aandoeningen |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Heel vaak (80–99%) | In 1 aandoening |
| ATP7BATPase copper transporting beta | Heel vaak (80–99%) | In 1 aandoening |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Heel vaak (80–99%) | In 2 aandoeningen |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Heel vaak (80–99%) | In 1 aandoening |
| BTKBruton tyrosine kinase | Heel vaak (80–99%) | In 1 aandoening |
| CAMKMTcalmodulin-lysine N-methyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| CASZ1castor zinc finger 1 | Heel vaak (80–99%) | In 1 aandoening |
| CDC45cell division cycle 45 | Heel vaak (80–99%) | In 1 aandoening |
| CDONcell adhesion associated, oncogene regulated | Heel vaak (80–99%) | In 5 aandoeningen |
| CDT1chromatin licensing and DNA replication factor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CHD7chromodomain helicase DNA binding protein 7 | Heel vaak (80–99%) | In 1 aandoening |
| CPLX1complexin 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CRIPTOcripto, EGF-CFC family member | Heel vaak (80–99%) | In 4 aandoeningen |
| CTBP1C-terminal binding protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CTNScystinosin, lysosomal cystine transporter | Heel vaak (80–99%) | In 3 aandoeningen |
| CYP11A1cytochrome P450 family 11 subfamily A member 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CYP11B2cytochrome P450 family 11 subfamily B member 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| DDB2damage specific DNA binding protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| DHCR2424-dehydrocholesterol reductase | Heel vaak (80–99%) | In 2 aandoeningen |
| DISP1dispatched RND transporter family member 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| DKC1dyskerin pseudouridine synthase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| DLL1delta like canonical Notch ligand 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| DLL4delta like canonical Notch ligand 4 | Heel vaak (80–99%) | In 1 aandoening |
| DOCK6dedicator of cytokinesis 6 | Heel vaak (80–99%) | In 1 aandoening |
| DYMdymeclin | Heel vaak (80–99%) | In 1 aandoening |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Heel vaak (80–99%) | In 1 aandoening |
| EFL1elongation factor like GTPase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| ELMO2engulfment and cell motility 2 | Heel vaak (80–99%) | In 1 aandoening |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Heel vaak (80–99%) | In 1 aandoening |
| EPCAMepithelial cell adhesion molecule | Heel vaak (80–99%) | In 2 aandoeningen |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC5ERCC excision repair 5, endonuclease | Heel vaak (80–99%) | In 1 aandoening |
| ERMARDER membrane associated RNA degradation | Heel vaak (80–99%) | In 1 aandoening |
| EVCEvC ciliary complex subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| EVC2EvC ciliary complex subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| FGF8fibroblast growth factor 8 | Heel vaak (80–99%) | In 4 aandoeningen |
| FGFR1fibroblast growth factor receptor 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| FMR1fragile X messenger ribonucleoprotein 1 | Heel vaak (80–99%) | In 1 aandoening |
| FOXH1forkhead box H1 | Heel vaak (80–99%) | In 4 aandoeningen |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| GAAalpha glucosidase | Heel vaak (80–99%) | In 1 aandoening |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Heel vaak (80–99%) | In 1 aandoening |
| GAS1growth arrest specific 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| GCKglucokinase | Heel vaak (80–99%) | In 1 aandoening |
| GLI1GLI family zinc finger 1 | Heel vaak (80–99%) | In 1 aandoening |
| GLI2GLI family zinc finger 2 | Heel vaak (80–99%) | In 4 aandoeningen |
| GLUD1glutamate dehydrogenase 1 | Heel vaak (80–99%) | In 1 aandoening |
| GMNNgeminin DNA replication inhibitor | Heel vaak (80–99%) | In 2 aandoeningen |
| GPR161G protein-coupled receptor 161 | Heel vaak (80–99%) | In 1 aandoening |
| HESX1HESX homeobox 1 | Heel vaak (80–99%) | In 1 aandoening |
| HMGA2high mobility group AT-hook 2 | Heel vaak (80–99%) | In 1 aandoening |
| HPD4-hydroxyphenylpyruvate dioxygenase | Heel vaak (80–99%) | In 2 aandoeningen |
| HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Heel vaak (80–99%) | In 2 aandoeningen |
| HSPG2heparan sulfate proteoglycan 2 | Heel vaak (80–99%) | In 1 aandoening |
| IGF1insulin like growth factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Heel vaak (80–99%) | In 1 aandoening |
| IL2RGinterleukin 2 receptor subunit gamma | Heel vaak (80–99%) | In 3 aandoeningen |
| IL7Rinterleukin 7 receptor | Heel vaak (80–99%) | In 2 aandoeningen |
| INSinsulin | Heel vaak (80–99%) | In 1 aandoening |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Heel vaak (80–99%) | In 2 aandoeningen |
| KRASKRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 3 aandoeningen |
| LAMA3laminin subunit alpha 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| LAMB3laminin subunit beta 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| LAMC2laminin subunit gamma 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| LEMD3LEM domain containing 3 | Heel vaak (80–99%) | In 1 aandoening |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| LHX4LIM homeobox 4 | Heel vaak (80–99%) | In 1 aandoening |
| LMNAlamin A/C | Heel vaak (80–99%) | In 2 aandoeningen |
| LRPPRCleucine rich pentatricopeptide repeat containing | Heel vaak (80–99%) | In 2 aandoeningen |
| LUZP1leucine zipper protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| MAP2K1mitogen-activated protein kinase kinase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| MAP2K2mitogen-activated protein kinase kinase 2 | Heel vaak (80–99%) | In 1 aandoening |
| MC2Rmelanocortin 2 receptor | Heel vaak (80–99%) | In 2 aandoeningen |
| MMADHCmetabolism of cobalamin associated D | Heel vaak (80–99%) | In 1 aandoening |
| MMP23Bmatrix metallopeptidase 23B | Heel vaak (80–99%) | In 1 aandoening |
| MMUTmethylmalonyl-CoA mutase | Heel vaak (80–99%) | In 2 aandoeningen |
| MRAPmelanocortin 2 receptor accessory protein | Heel vaak (80–99%) | In 1 aandoening |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| MYH3myosin heavy chain 3 | Heel vaak (80–99%) | In 3 aandoeningen |
| NACC1nucleus accumbens associated 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| NALCNsodium leak channel, non-selective | Heel vaak (80–99%) | In 1 aandoening |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Heel vaak (80–99%) | In 3 aandoeningen |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Heel vaak (80–99%) | In 1 aandoening |
| NELFAnegative elongation factor complex member A | Heel vaak (80–99%) | In 1 aandoening |
| NFIXnuclear factor I X | Heel vaak (80–99%) | In 2 aandoeningen |
| NFU1NFU1 iron-sulfur cluster scaffold | Heel vaak (80–99%) | In 1 aandoening |
| NNTnicotinamide nucleotide transhydrogenase | Heel vaak (80–99%) | In 2 aandoeningen |
| NODALnodal growth differentiation factor | Heel vaak (80–99%) | In 4 aandoeningen |
| NOTCH1notch receptor 1 | Heel vaak (80–99%) | In 1 aandoening |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Heel vaak (80–99%) | In 1 aandoening |
| NSD2nuclear receptor binding SET domain protein 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Heel vaak (80–99%) | In 1 aandoening |
| NUDCD3NudC domain containing 3 | Heel vaak (80–99%) | In 1 aandoening |
| ORC1origin recognition complex subunit 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| ORC4origin recognition complex subunit 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| ORC6origin recognition complex subunit 6 | Heel vaak (80–99%) | In 2 aandoeningen |
| PARNpoly(A)-specific ribonuclease | Heel vaak (80–99%) | In 2 aandoeningen |
| PDPNpodoplanin | Heel vaak (80–99%) | In 1 aandoening |
| PEX1peroxisomal biogenesis factor 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX10peroxisomal biogenesis factor 10 | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX11Bperoxisomal biogenesis factor 11 beta | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX12peroxisomal biogenesis factor 12 | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX13peroxisomal biogenesis factor 13 | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX14peroxisomal biogenesis factor 14 | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX16peroxisomal biogenesis factor 16 | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX19peroxisomal biogenesis factor 19 | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX2peroxisomal biogenesis factor 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX26peroxisomal biogenesis factor 26 | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX3peroxisomal biogenesis factor 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX5peroxisomal biogenesis factor 5 | Heel vaak (80–99%) | In 3 aandoeningen |
| PEX6peroxisomal biogenesis factor 6 | Heel vaak (80–99%) | In 2 aandoeningen |
| PHOX2Bpaired like homeobox 2B | Heel vaak (80–99%) | In 1 aandoening |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Heel vaak (80–99%) | In 1 aandoening |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Heel vaak (80–99%) | In 1 aandoening |
| PLCH1phospholipase C eta 1 | Heel vaak (80–99%) | In 1 aandoening |
| POLA1DNA polymerase alpha 1, catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| PPM1Bprotein phosphatase, Mg2+/Mn2+ dependent 1B | Heel vaak (80–99%) | In 1 aandoening |
| PRDM16PR/SET domain 16 | Heel vaak (80–99%) | In 1 aandoening |
| PREPLprolyl endopeptidase like | Heel vaak (80–99%) | In 2 aandoeningen |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Heel vaak (80–99%) | In 1 aandoening |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Heel vaak (80–99%) | In 1 aandoening |
| PRKCZprotein kinase C zeta | Heel vaak (80–99%) | In 1 aandoening |
| PROKR2prokineticin receptor 2 | Heel vaak (80–99%) | In 1 aandoening |
| PSMB10proteasome 20S subunit beta 10 | Heel vaak (80–99%) | In 1 aandoening |
| PTCH1patched 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| PYCR2pyrroline-5-carboxylate reductase 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| RAI1retinoic acid induced 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Heel vaak (80–99%) | In 1 aandoening |
| REREarginine-glutamic acid dipeptide repeats | Heel vaak (80–99%) | In 1 aandoening |
| RETret proto-oncogene | Heel vaak (80–99%) | In 1 aandoening |
| RFXANKregulatory factor X associated ankyrin containing protein | Heel vaak (80–99%) | In 2 aandoeningen |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Heel vaak (80–99%) | In 2 aandoeningen |
| ROBO1roundabout guidance receptor 1 | Heel vaak (80–99%) | In 1 aandoening |
| RTEL1regulator of telomere elongation helicase 1 | Heel vaak (80–99%) | In 1 aandoening |
| SELENONselenoprotein N | Heel vaak (80–99%) | In 3 aandoeningen |
| SHHsonic hedgehog signaling molecule | Heel vaak (80–99%) | In 4 aandoeningen |
| SIX3SIX homeobox 3 | Heel vaak (80–99%) | In 4 aandoeningen |
| SKISKI proto-oncogene | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC2A2solute carrier family 2 member 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC35C1solute carrier family 35 member C1 | Heel vaak (80–99%) | In 1 aandoening |
| SLC39A13solute carrier family 39 member 13 | Heel vaak (80–99%) | In 1 aandoening |
| SLC3A1solute carrier family 3 member 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC46A1solute carrier family 46 member 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC5A1solute carrier family 5 member 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC7A7solute carrier family 7 member 7 | Heel vaak (80–99%) | In 2 aandoeningen |
| SMC1Astructural maintenance of chromosomes 1A | Heel vaak (80–99%) | In 2 aandoeningen |
| SPENspen family transcriptional repressor | Heel vaak (80–99%) | In 1 aandoening |
| SPINK5serine peptidase inhibitor Kazal type 5 | Heel vaak (80–99%) | In 1 aandoening |
| SSR4signal sequence receptor subunit 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| STARsteroidogenic acute regulatory protein | Heel vaak (80–99%) | In 1 aandoening |
| STAT3signal transducer and activator of transcription 3 | Heel vaak (80–99%) | In 1 aandoening |
| STILSTIL centriolar assembly protein | Heel vaak (80–99%) | In 4 aandoeningen |
| TBR1T-box brain transcription factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| TCF4transcription factor 4 | 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 2 aandoeningen |
| TGDSTDP-glucose 4,6-dehydratase | Heel vaak (80–99%) | In 1 aandoening |
| TGIF1TGFB induced factor homeobox 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| TIMM50translocase of inner mitochondrial membrane 50 | Heel vaak (80–99%) | In 2 aandoeningen |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| TINF2TERF1 interacting nuclear factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| TMEM126Btransmembrane protein 126B | Heel vaak (80–99%) | In 2 aandoeningen |
| TRAPPC2trafficking protein particle complex subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| TSHZ3teashirt zinc finger homeobox 3 | Heel vaak (80–99%) | In 1 aandoening |
| TWIST2twist family bHLH transcription factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| TXNRD2thioredoxin reductase 2 | Heel vaak (80–99%) | In 1 aandoening |
| UBE4Bubiquitination factor E4B | Heel vaak (80–99%) | In 1 aandoening |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| WDR11WD repeat domain 11 | Heel vaak (80–99%) | In 1 aandoening |
| XPAXPA, DNA damage recognition and repair factor | Heel vaak (80–99%) | In 1 aandoening |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Heel vaak (80–99%) | In 1 aandoening |
| ZIC2Zic family zinc finger 2 | Heel vaak (80–99%) | In 4 aandoeningen |
| ABAT4-aminobutyrate aminotransferase | Vaak (30–79%) | In 1 aandoening |
| ABCA12ATP binding cassette subfamily A member 12 | Vaak (30–79%) | In 2 aandoeningen |
| ACAD9acyl-CoA dehydrogenase family member 9 | Vaak (30–79%) | In 1 aandoening |
| ACADSacyl-CoA dehydrogenase short chain | Vaak (30–79%) | In 2 aandoeningen |
| ACOX1acyl-CoA oxidase 1 | Vaak (30–79%) | In 1 aandoening |
| ACTA1actin alpha 1, skeletal muscle | Vaak (30–79%) | In 1 aandoening |
| ACTL6Bactin like 6B | Vaak (30–79%) | In 1 aandoening |
| ADAM17ADAM metallopeptidase domain 17 | Vaak (30–79%) | In 1 aandoening |
| ADARadenosine deaminase RNA specific | Vaak (30–79%) | In 1 aandoening |
| ADCY5adenylate cyclase 5 | Vaak (30–79%) | In 1 aandoening |
| ADH5alcohol dehydrogenase 5 (class III), chi polypeptide | Vaak (30–79%) | In 1 aandoening |
| AFF3ALF transcription elongation factor 3 | Vaak (30–79%) | In 1 aandoening |
| AFG2AAAA ATPase AFG2A | Vaak (30–79%) | In 1 aandoening |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Vaak (30–79%) | In 2 aandoeningen |
| AGXTalanine--glyoxylate aminotransferase | Vaak (30–79%) | In 1 aandoening |
| AHCYadenosylhomocysteinase | Vaak (30–79%) | In 2 aandoeningen |
| AHDC1AT-hook DNA binding motif containing 1 | Vaak (30–79%) | In 2 aandoeningen |
| AK2adenylate kinase 2 | Vaak (30–79%) | In 1 aandoening |
| AKR1D1aldo-keto reductase family 1 member D1 | Vaak (30–79%) | In 2 aandoeningen |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Vaak (30–79%) | In 1 aandoening |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Vaak (30–79%) | In 1 aandoening |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Vaak (30–79%) | In 1 aandoening |
| ANKRD55ankyrin repeat domain 55 | 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 |
| AQP2aquaporin 2 | Vaak (30–79%) | In 2 aandoeningen |
| ARID1BAT-rich interaction domain 1B | Vaak (30–79%) | In 1 aandoening |
| ASAH1N-acylsphingosine amidohydrolase 1 | Vaak (30–79%) | In 2 aandoeningen |
| ATMATM serine/threonine kinase | Vaak (30–79%) | In 2 aandoeningen |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Vaak (30–79%) | In 2 aandoeningen |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Vaak (30–79%) | In 2 aandoeningen |
| ATP5F1AATP synthase F1 subunit alpha | Vaak (30–79%) | In 2 aandoeningen |
| ATXN7ataxin 7 | Vaak (30–79%) | In 1 aandoening |
| AVPR2arginine vasopressin receptor 2 | Vaak (30–79%) | In 2 aandoeningen |
| BANF1barrier to autointegration nuclear assembly factor 1 | Vaak (30–79%) | In 1 aandoening |
| BCL11ABCL11 transcription factor A | Vaak (30–79%) | In 1 aandoening |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Vaak (30–79%) | In 1 aandoening |
| BLNKB cell linker | Vaak (30–79%) | In 1 aandoening |
| BMPR1Abone morphogenetic protein receptor type 1A | Vaak (30–79%) | In 1 aandoening |
| BRCA2BRCA2 DNA repair associated | Vaak (30–79%) | In 1 aandoening |
| BRD4bromodomain containing 4 | Vaak (30–79%) | In 1 aandoening |
| BRF1BRF1 general transcription factor IIIB subunit | Vaak (30–79%) | In 1 aandoening |
| BSNDbarttin CLCNK type accessory subunit beta | Vaak (30–79%) | In 2 aandoeningen |
| BUD13BUD13 spliceosome associated protein | Vaak (30–79%) | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Vaak (30–79%) | In 2 aandoeningen |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Vaak (30–79%) | In 1 aandoening |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Vaak (30–79%) | In 1 aandoening |
| CAPNS1calpain small subunit 1 | Vaak (30–79%) | In 1 aandoening |
| CAV1caveolin 1 | Vaak (30–79%) | In 1 aandoening |
| CBLCbl proto-oncogene | Vaak (30–79%) | In 1 aandoening |
| CD247CD247 molecule | Vaak (30–79%) | In 1 aandoening |
| CD3GCD3 gamma subunit of T-cell receptor complex | Vaak (30–79%) | In 1 aandoening |
| CD40LGCD40 ligand | Vaak (30–79%) | In 1 aandoening |
| CD79BCD79b molecule | Vaak (30–79%) | In 1 aandoening |
| CDK19cyclin dependent kinase 19 | Vaak (30–79%) | In 1 aandoening |
| CEACAM3CEA cell adhesion molecule 3 | Vaak (30–79%) | In 1 aandoening |
| CEACAM6CEA cell adhesion molecule 6 | Vaak (30–79%) | In 1 aandoening |
| CELF2CUGBP Elav-like family member 2 | Vaak (30–79%) | In 1 aandoening |
| CENPTcentromere protein T | Vaak (30–79%) | In 1 aandoening |
| CERS3ceramide synthase 3 | Vaak (30–79%) | In 1 aandoening |
| CFTRCF transmembrane conductance regulator | Vaak (30–79%) | In 2 aandoeningen |
| CIITAclass II major histocompatibility complex transactivator | Vaak (30–79%) | In 2 aandoeningen |
| CLCA4chloride channel accessory 4 | Vaak (30–79%) | In 1 aandoening |
| CLCN3Cl-/H+ antiporter 3 | Vaak (30–79%) | In 1 aandoening |
| CLCNKAchloride voltage-gated channel Ka | Vaak (30–79%) | In 2 aandoeningen |
| CLCNKBchloride voltage-gated channel Kb | Vaak (30–79%) | In 3 aandoeningen |
| CLDN16claudin 16 | Vaak (30–79%) | In 1 aandoening |
| CLTCclathrin heavy chain | Vaak (30–79%) | In 1 aandoening |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Vaak (30–79%) | In 1 aandoening |
| COA8cytochrome c oxidase assembly factor 8 | Vaak (30–79%) | In 1 aandoening |
| COG1component of oligomeric golgi complex 1 | Vaak (30–79%) | In 1 aandoening |
| COG6component of oligomeric golgi complex 6 | Vaak (30–79%) | In 1 aandoening |
| COG8component of oligomeric golgi complex 8 | Vaak (30–79%) | In 2 aandoeningen |
| COL4A5collagen type IV alpha 5 chain | Vaak (30–79%) | In 1 aandoening |
| COL4A6collagen type IV alpha 6 chain | Vaak (30–79%) | In 1 aandoening |
| COL7A1collagen type VII alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| CSNK2A1casein kinase 2 alpha 1 | Vaak (30–79%) | In 1 aandoening |
| CSPP1centrosome and spindle pole associated protein 1 | Vaak (30–79%) | In 1 aandoening |
| CTCFCCCTC-binding factor | Vaak (30–79%) | In 2 aandoeningen |
| CYC1cytochrome c1 | Vaak (30–79%) | In 1 aandoening |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Vaak (30–79%) | In 1 aandoening |
| CYP24A1cytochrome P450 family 24 subfamily A member 1 | Vaak (30–79%) | In 1 aandoening |
| DALRD3DALR anticodon binding domain containing 3 | Vaak (30–79%) | In 1 aandoening |
| DCTN4dynactin subunit 4 | Vaak (30–79%) | In 1 aandoening |
| DDCdopa decarboxylase | Vaak (30–79%) | In 1 aandoening |
| DEGS1delta 4-desaturase, sphingolipid 1 | Vaak (30–79%) | In 1 aandoening |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Vaak (30–79%) | In 1 aandoening |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Vaak (30–79%) | In 3 aandoeningen |
| DNASE2deoxyribonuclease 2, lysosomal | Vaak (30–79%) | In 1 aandoening |
| DNM1dynamin 1 | Vaak (30–79%) | In 2 aandoeningen |
| DOCK11dedicator of cytokinesis 11 | Vaak (30–79%) | In 1 aandoening |
| DOCK8dedicator of cytokinesis 8 | Vaak (30–79%) | In 1 aandoening |
| DOLKdolichol kinase | Vaak (30–79%) | In 2 aandoeningen |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Vaak (30–79%) | In 1 aandoening |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Vaak (30–79%) | In 2 aandoeningen |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Vaak (30–79%) | In 1 aandoening |
| DSPdesmoplakin | Vaak (30–79%) | In 1 aandoening |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Vaak (30–79%) | In 1 aandoening |
| EBF3EBF transcription factor 3 | Vaak (30–79%) | In 1 aandoening |
| EDNRAendothelin receptor type A | Vaak (30–79%) | In 1 aandoening |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Vaak (30–79%) | In 1 aandoening |
| ETHE1ETHE1 persulfide dioxygenase | Vaak (30–79%) | In 2 aandoeningen |
| EXOSC3exosome component 3 | Vaak (30–79%) | In 1 aandoening |
| EXOSC8exosome component 8 | Vaak (30–79%) | In 2 aandoeningen |
| EXOSC9exosome component 9 | Vaak (30–79%) | In 2 aandoeningen |
| EXTL3exostosin like glycosyltransferase 3 | Vaak (30–79%) | In 1 aandoening |
| FAM149B1family with sequence similarity 149 member B1 | Vaak (30–79%) | In 1 aandoening |
| FBXL4F-box and leucine rich repeat protein 4 | Vaak (30–79%) | In 1 aandoening |
| FBXO28F-box protein 28 | Vaak (30–79%) | In 1 aandoening |
| FCGR2AFc gamma receptor IIa | Vaak (30–79%) | In 1 aandoening |
| FGF12fibroblast growth factor 12 | Vaak (30–79%) | In 1 aandoening |
| FGFRL1fibroblast growth factor receptor like 1 | Vaak (30–79%) | In 1 aandoening |
| FOCADfocadhesin | Vaak (30–79%) | In 1 aandoening |
| FOXG1forkhead box G1 | Vaak (30–79%) | In 1 aandoening |
| FOXP1forkhead box P1 | Vaak (30–79%) | In 1 aandoening |
| FOXP3forkhead box P3 | Vaak (30–79%) | In 1 aandoening |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Vaak (30–79%) | In 1 aandoening |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | 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 1 aandoening |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Vaak (30–79%) | In 1 aandoening |
| GALCgalactosylceramidase | Vaak (30–79%) | In 2 aandoeningen |
| GATA6GATA binding protein 6 | Vaak (30–79%) | In 2 aandoeningen |
| GCLCglutamate-cysteine ligase catalytic subunit | Vaak (30–79%) | In 1 aandoening |
| GFAPglial fibrillary acidic protein | Vaak (30–79%) | In 1 aandoening |
| GGPS1geranylgeranyl diphosphate synthase 1 | Vaak (30–79%) | In 1 aandoening |
| GINS3GINS complex subunit 3 | Vaak (30–79%) | In 1 aandoening |
| GJA1gap junction protein alpha 1 | Vaak (30–79%) | In 1 aandoening |
| GNB1G protein subunit beta 1 | Vaak (30–79%) | In 2 aandoeningen |
| GPT2glutamic--pyruvic transaminase 2 | Vaak (30–79%) | In 2 aandoeningen |
| GRB10growth factor receptor bound protein 10 | Vaak (30–79%) | In 1 aandoening |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Vaak (30–79%) | In 2 aandoeningen |
| GRM7glutamate metabotropic receptor 7 | Vaak (30–79%) | In 2 aandoeningen |
| GSTM3glutathione S-transferase mu 3 | Vaak (30–79%) | In 1 aandoening |
| GTPBP2GTP binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| H19H19 imprinted maternally expressed transcript | Vaak (30–79%) | In 1 aandoening |
| H3-3BH3.3 histone B | Vaak (30–79%) | In 1 aandoening |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Vaak (30–79%) | In 1 aandoening |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Vaak (30–79%) | In 2 aandoeningen |
| HBA1hemoglobin subunit alpha 1 | Vaak (30–79%) | In 1 aandoening |
| HBA2hemoglobin subunit alpha 2 | Vaak (30–79%) | In 1 aandoening |
| HCFC1host cell factor C1 | Vaak (30–79%) | In 1 aandoening |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Vaak (30–79%) | In 1 aandoening |
| HDAC8histone deacetylase 8 | Vaak (30–79%) | In 1 aandoening |
| HEXBhexosaminidase subunit beta | Vaak (30–79%) | In 1 aandoening |
| HFEhomeostatic iron regulator | Vaak (30–79%) | In 1 aandoening |
| HIVEP2HIVEP zinc finger 2 | Vaak (30–79%) | In 1 aandoening |
| HMOX1heme oxygenase 1 | Vaak (30–79%) | In 1 aandoening |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Vaak (30–79%) | In 1 aandoening |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Vaak (30–79%) | In 1 aandoening |
| HSD11B2hydroxysteroid 11-beta dehydrogenase 2 | Vaak (30–79%) | In 2 aandoeningen |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Vaak (30–79%) | In 1 aandoening |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Vaak (30–79%) | In 1 aandoening |
| IGF2insulin like growth factor 2 | Vaak (30–79%) | In 1 aandoening |
| IGHMimmunoglobulin heavy constant mu | Vaak (30–79%) | In 2 aandoeningen |
| IGLL1immunoglobulin lambda like polypeptide 1 | Vaak (30–79%) | In 1 aandoening |
| IKBKBinhibitor of nuclear factor kappa B kinase subunit beta | Vaak (30–79%) | In 1 aandoening |
| IL2RAinterleukin 2 receptor subunit alpha | Vaak (30–79%) | In 1 aandoening |
| IPO8importin 8 | Vaak (30–79%) | In 1 aandoening |
| IRF1interferon regulatory factor 1 | 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 |
| KAT6Blysine acetyltransferase 6B | Vaak (30–79%) | In 1 aandoening |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Vaak (30–79%) | In 1 aandoening |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Vaak (30–79%) | In 1 aandoening |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Vaak (30–79%) | In 1 aandoening |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Vaak (30–79%) | In 1 aandoening |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Vaak (30–79%) | In 2 aandoeningen |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Vaak (30–79%) | In 1 aandoening |
| KDM6Alysine demethylase 6A | Vaak (30–79%) | In 1 aandoening |
| KIAA0586KIAA0586 | Vaak (30–79%) | In 1 aandoening |
| KIAA0753KIAA0753 | Vaak (30–79%) | In 1 aandoening |
| KIF7kinesin family member 7 | Vaak (30–79%) | In 2 aandoeningen |
| KMT2Dlysine methyltransferase 2D | Vaak (30–79%) | In 1 aandoening |
| LATlinker for activation of T cells | Vaak (30–79%) | In 1 aandoening |
| LGI1leucine rich glioma inactivated 1 | Vaak (30–79%) | In 2 aandoeningen |
| LINS1lines homolog 1 | Vaak (30–79%) | In 1 aandoening |
| LMBRD1LMBR1 domain containing 1 | Vaak (30–79%) | In 2 aandoeningen |
| LMNB1lamin B1 | Vaak (30–79%) | In 1 aandoening |
| LRRC7leucine rich repeat containing 7 | Vaak (30–79%) | In 1 aandoening |
| LRRC8Aleucine rich repeat containing 8 VRAC subunit A | Vaak (30–79%) | In 1 aandoening |
| MAGEL2MAGE family member L2 | Vaak (30–79%) | In 4 aandoeningen |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Vaak (30–79%) | In 1 aandoening |
| MAPKAPK5MAPK activated protein kinase 5 | Vaak (30–79%) | In 1 aandoening |
| MARS1methionyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| MAU2MAU2 sister chromatid cohesion factor | Vaak (30–79%) | In 1 aandoening |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Vaak (30–79%) | In 1 aandoening |
| MCM4minichromosome maintenance complex component 4 | Vaak (30–79%) | In 1 aandoening |
| MCTP2multiple C2 and transmembrane domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Vaak (30–79%) | In 2 aandoeningen |
| MDH2malate dehydrogenase 2 | Vaak (30–79%) | In 1 aandoening |
| MECP2methyl-CpG binding protein 2 | Vaak (30–79%) | In 2 aandoeningen |
| MED12mediator complex subunit 12 | Vaak (30–79%) | In 1 aandoening |
| MIFmacrophage migration inhibitory factor | Vaak (30–79%) | In 1 aandoening |
| MLYCDmalonyl-CoA decarboxylase | Vaak (30–79%) | In 1 aandoening |
| MMACHCmetabolism of cobalamin associated C | Vaak (30–79%) | In 2 aandoeningen |
| MPV17mitochondrial inner membrane protein MPV17 | Vaak (30–79%) | In 1 aandoening |
| MRPL3mitochondrial ribosomal protein L3 | Vaak (30–79%) | In 1 aandoening |
| MRPL39mitochondrial ribosomal protein L39 | Vaak (30–79%) | In 1 aandoening |
| MRPS2mitochondrial ribosomal protein S2 | Vaak (30–79%) | In 1 aandoening |
| MRPS7mitochondrial ribosomal protein S7 | Vaak (30–79%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Vaak (30–79%) | In 2 aandoeningen |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Vaak (30–79%) | In 2 aandoeningen |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Vaak (30–79%) | In 2 aandoeningen |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Vaak (30–79%) | In 2 aandoeningen |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Vaak (30–79%) | In 1 aandoening |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Vaak (30–79%) | In 3 aandoeningen |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Vaak (30–79%) | In 1 aandoening |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Vaak (30–79%) | In 1 aandoening |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Vaak (30–79%) | In 2 aandoeningen |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Vaak (30–79%) | In 1 aandoening |
| MTRFRmitochondrial translation release factor in rescue | Vaak (30–79%) | In 2 aandoeningen |
| MTTPmicrosomal triglyceride transfer protein | Vaak (30–79%) | In 1 aandoening |
| MYH7myosin heavy chain 7 | Vaak (30–79%) | In 1 aandoening |
| MYL2myosin light chain 2 | Vaak (30–79%) | In 1 aandoening |
| MYMXmyomixer, myoblast fusion factor | Vaak (30–79%) | In 1 aandoening |
| NCAPG2non-SMC condensin II complex subunit G2 | Vaak (30–79%) | In 1 aandoening |
| NDNnecdin, MAGE family member | Vaak (30–79%) | In 3 aandoeningen |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Vaak (30–79%) | In 1 aandoening |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Vaak (30–79%) | In 1 aandoening |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Vaak (30–79%) | In 1 aandoening |
| NECAP1NECAP endocytosis associated 1 | Vaak (30–79%) | In 1 aandoening |
| NEXMIFneurite extension and migration factor | Vaak (30–79%) | In 1 aandoening |
| NFE2L2NFE2 like bZIP transcription factor 2 | Vaak (30–79%) | In 1 aandoening |
| NGLY1N-glycanase 1 | Vaak (30–79%) | In 1 aandoening |
| NIPAL4NIPA like domain containing 4 | Vaak (30–79%) | In 1 aandoening |
| NIPBLNIPBL cohesin loading factor | Vaak (30–79%) | In 1 aandoening |
| NLRP1NLR family pyrin domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| NPHP3nephrocystin 3 | Vaak (30–79%) | In 1 aandoening |
| NR1H4nuclear receptor subfamily 1 group H member 4 | Vaak (30–79%) | In 1 aandoening |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Vaak (30–79%) | In 1 aandoening |
| NUP54nucleoporin 54 | Vaak (30–79%) | In 1 aandoening |
| NUP62nucleoporin 62 | Vaak (30–79%) | In 2 aandoeningen |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Vaak (30–79%) | In 2 aandoeningen |
| OCA2OCA2 melanosomal transmembrane protein | Vaak (30–79%) | In 3 aandoeningen |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Vaak (30–79%) | In 2 aandoeningen |
| OFD1OFD1 centriole and centriolar satellite protein | Vaak (30–79%) | In 1 aandoening |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Vaak (30–79%) | In 1 aandoening |
| OTUD6BOTU deubiquitinase 6B | Vaak (30–79%) | In 2 aandoeningen |
| PACS1phosphofurin acidic cluster sorting protein 1 | Vaak (30–79%) | In 1 aandoening |
| PACS2phosphofurin acidic cluster sorting protein 2 | Vaak (30–79%) | In 1 aandoening |
| PACSIN3protein kinase C and casein kinase substrate in neurons 3 | Vaak (30–79%) | In 1 aandoening |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| PDE6Dphosphodiesterase 6D | Vaak (30–79%) | In 1 aandoening |
| PEPDpeptidase D | Vaak (30–79%) | In 1 aandoening |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Vaak (30–79%) | In 1 aandoening |
| PGM3phosphoglucomutase 3 | Vaak (30–79%) | In 2 aandoeningen |
| PHGDHphosphoglycerate dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Vaak (30–79%) | In 2 aandoeningen |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Vaak (30–79%) | In 1 aandoening |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| PKP1plakophilin 1 | Vaak (30–79%) | In 1 aandoening |
| PLP1proteolipid protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| PMM2phosphomannomutase 2 | Vaak (30–79%) | In 2 aandoeningen |
| PMPCBpeptidase, mitochondrial processing subunit beta | Vaak (30–79%) | In 1 aandoening |
| PNPLA1patatin like domain 1, omega-hydroxyceramide transacylase | Vaak (30–79%) | In 1 aandoening |
| PNPOpyridoxamine 5'-phosphate oxidase | Vaak (30–79%) | In 2 aandoeningen |
| POC1APOC1 centriolar protein A | Vaak (30–79%) | In 1 aandoening |
| POGZpogo transposable element derived with ZNF domain | Vaak (30–79%) | In 1 aandoening |
| POLR3ARNA polymerase III subunit A | Vaak (30–79%) | In 2 aandoeningen |
| PPFIBP1PPFIB scaffold protein 1 | Vaak (30–79%) | In 1 aandoening |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Vaak (30–79%) | In 1 aandoening |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Vaak (30–79%) | In 1 aandoening |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Vaak (30–79%) | In 1 aandoening |
| PSAPprosaposin | Vaak (30–79%) | In 1 aandoening |
| PSMB8proteasome 20S subunit beta 8 | Vaak (30–79%) | In 1 aandoening |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Vaak (30–79%) | In 1 aandoening |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Vaak (30–79%) | In 1 aandoening |
| PYGLglycogen phosphorylase L | Vaak (30–79%) | In 1 aandoening |
| RAD21RAD21 cohesin complex component | Vaak (30–79%) | In 1 aandoening |
| RBM10RNA binding motif protein 10 | Vaak (30–79%) | In 2 aandoeningen |
| RELREL proto-oncogene, NF-kB subunit | Vaak (30–79%) | In 1 aandoening |
| RELBRELB proto-oncogene, NF-kB subunit | Vaak (30–79%) | In 1 aandoening |
| RFXAPregulatory factor X associated protein | Vaak (30–79%) | In 2 aandoeningen |
| RHOBTB2Rho related BTB domain containing 2 | Vaak (30–79%) | In 2 aandoeningen |
| RIPK1receptor interacting serine/threonine kinase 1 | Vaak (30–79%) | In 1 aandoening |
| RIT1Ras like without CAAX 1 | Vaak (30–79%) | In 1 aandoening |
| RNF2ring finger protein 2 | Vaak (30–79%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Vaak (30–79%) | In 1 aandoening |
| RNU5B-1RNA, U5B small nuclear 1 | Vaak (30–79%) | In 1 aandoening |
| RYR3ryanodine receptor 3 | Vaak (30–79%) | In 1 aandoening |
| SAR1Bsecretion associated Ras related GTPase 1B | Vaak (30–79%) | In 2 aandoeningen |
| SBDSSBDS ribosome maturation factor | Vaak (30–79%) | In 2 aandoeningen |
| SC5Dsterol-C5-desaturase | Vaak (30–79%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Vaak (30–79%) | In 3 aandoeningen |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Vaak (30–79%) | In 2 aandoeningen |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Vaak (30–79%) | In 1 aandoening |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Vaak (30–79%) | In 1 aandoening |
| SERPINA1serpin family A member 1 | Vaak (30–79%) | In 1 aandoening |
| SIM1SIM bHLH transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| SLC11A1solute carrier family 11 member 1 | Vaak (30–79%) | In 1 aandoening |
| SLC12A3solute carrier family 12 member 3 | Vaak (30–79%) | In 2 aandoeningen |
| SLC13A5solute carrier family 13 member 5 | 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 |
| SLC25A3solute carrier family 25 member 3 | Vaak (30–79%) | In 1 aandoening |
| SLC25A46solute carrier family 25 member 46 | Vaak (30–79%) | In 1 aandoening |
| SLC26A9solute carrier family 26 member 9 | Vaak (30–79%) | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Vaak (30–79%) | In 1 aandoening |
| SLC34A1solute carrier family 34 member 1 | Vaak (30–79%) | In 1 aandoening |
| SLC38A3solute carrier family 38 member 3 | Vaak (30–79%) | In 1 aandoening |
| SLC39A4solute carrier family 39 member 4 | Vaak (30–79%) | In 2 aandoeningen |
| SLC39A7solute carrier family 39 member 7 | Vaak (30–79%) | In 1 aandoening |
| SLC4A10solute carrier family 4 member 10 | Vaak (30–79%) | In 1 aandoening |
| SLC6A14solute carrier family 6 member 14 | Vaak (30–79%) | In 1 aandoening |
| SLC6A8solute carrier family 6 member 8 | Vaak (30–79%) | In 1 aandoening |
| SLC9A3solute carrier family 9 member A3 | Vaak (30–79%) | In 1 aandoening |
| SLC9A6solute carrier family 9 member A6 | Vaak (30–79%) | In 1 aandoening |
| SMAD2SMAD family member 2 | Vaak (30–79%) | In 1 aandoening |
| SMAD4SMAD family member 4 | Vaak (30–79%) | In 1 aandoening |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Vaak (30–79%) | In 1 aandoening |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Vaak (30–79%) | In 1 aandoening |
| SMC3structural maintenance of chromosomes 3 | Vaak (30–79%) | In 2 aandoeningen |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Vaak (30–79%) | In 3 aandoeningen |
| SONSON DNA and RNA binding protein | Vaak (30–79%) | In 1 aandoening |
| SOX9SRY-box transcription factor 9 | Vaak (30–79%) | In 2 aandoeningen |
| SPI1Spi-1 proto-oncogene | Vaak (30–79%) | In 1 aandoening |
| SRSF1serine and arginine rich splicing factor 1 | Vaak (30–79%) | In 1 aandoening |
| STAT4signal transducer and activator of transcription 4 | Vaak (30–79%) | In 1 aandoening |
| STX1Asyntaxin 1A | Vaak (30–79%) | In 1 aandoening |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Vaak (30–79%) | In 2 aandoeningen |
| SULT2B1sulfotransferase family 2B member 1 | Vaak (30–79%) | In 1 aandoening |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Vaak (30–79%) | In 1 aandoening |
| SYNJ1synaptojanin 1 | Vaak (30–79%) | In 1 aandoening |
| SZT2SZT2 subunit of KICSTOR complex | Vaak (30–79%) | In 1 aandoening |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Vaak (30–79%) | In 1 aandoening |
| TASP1taspase 1 | Vaak (30–79%) | In 1 aandoening |
| TCF3transcription factor 3 | Vaak (30–79%) | In 2 aandoeningen |
| TCTN3tectonic family member 3 | Vaak (30–79%) | In 2 aandoeningen |
| TFAMtranscription factor A, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| TGFB1transforming growth factor beta 1 | Vaak (30–79%) | In 3 aandoeningen |
| TGM1transglutaminase 1 | Vaak (30–79%) | In 1 aandoening |
| TLK2tousled like kinase 2 | Vaak (30–79%) | In 1 aandoening |
| TMEM216transmembrane protein 216 | Vaak (30–79%) | In 2 aandoeningen |
| TMEM231transmembrane protein 231 | Vaak (30–79%) | In 1 aandoening |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Vaak (30–79%) | In 1 aandoening |
| TPI1triosephosphate isomerase 1 | Vaak (30–79%) | In 1 aandoening |
| TPM2tropomyosin 2 | Vaak (30–79%) | In 1 aandoening |
| TPM3tropomyosin 3 | Vaak (30–79%) | In 2 aandoeningen |
| TRAK1trafficking kinesin protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| TRMT5tRNA methyltransferase 5 | Vaak (30–79%) | In 1 aandoening |
| TSHBthyroid stimulating hormone subunit beta | Vaak (30–79%) | In 1 aandoening |
| TTNtitin | Vaak (30–79%) | In 1 aandoening |
| UBA5ubiquitin like modifier activating enzyme 5 | Vaak (30–79%) | In 2 aandoeningen |
| UBAP2Lubiquitin associated protein 2 like | Vaak (30–79%) | In 1 aandoening |
| UFSP2UFM1 specific peptidase 2 | Vaak (30–79%) | In 1 aandoening |
| UNC45Aunc-45 myosin chaperone A | Vaak (30–79%) | In 1 aandoening |
| USP7ubiquitin specific peptidase 7 | Vaak (30–79%) | In 1 aandoening |
| VPS53VPS53 subunit of GARP complex | Vaak (30–79%) | In 1 aandoening |
| VRK1VRK serine/threonine kinase 1 | Vaak (30–79%) | In 1 aandoening |
| WDR26WD repeat domain 26 | Vaak (30–79%) | In 2 aandoeningen |
| WSB2WD repeat and SOCS box containing 2 | Vaak (30–79%) | In 1 aandoening |
| XPO1exportin 1 | Vaak (30–79%) | In 1 aandoening |
| YARS1tyrosyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| YARS2tyrosyl-tRNA synthetase 2 | Vaak (30–79%) | In 1 aandoening |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Vaak (30–79%) | In 1 aandoening |
| ZAP70zeta chain of T cell receptor associated protein kinase 70 | Vaak (30–79%) | In 2 aandoeningen |
| ZEB2zinc finger E-box binding homeobox 2 | Vaak (30–79%) | In 2 aandoeningen |
| ZNF699zinc finger protein 699 | Vaak (30–79%) | In 1 aandoening |
| AASSaminoadipate-semialdehyde synthase | Soms (5–29%) | In 1 aandoening |
| ACSF3acyl-CoA synthetase family member 3 | Soms (5–29%) | In 2 aandoeningen |
| ACVR1activin A receptor type 1 | Soms (5–29%) | In 1 aandoening |
| ADNPactivity dependent neuroprotector homeobox | Soms (5–29%) | In 1 aandoening |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Soms (5–29%) | In 1 aandoening |
| AMNamnion associated transmembrane protein | Soms (5–29%) | In 1 aandoening |
| ANKRD11ankyrin repeat domain 11 | Soms (5–29%) | In 1 aandoening |
| ARCN1archain 1 coat protein complex I subunit delta | Soms (5–29%) | In 1 aandoening |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Soms (5–29%) | In 1 aandoening |
| ARVCFARVCF delta catenin family member | Soms (5–29%) | In 1 aandoening |
| CA2carbonic anhydrase 2 | Soms (5–29%) | In 1 aandoening |
| CASKcalcium/calmodulin dependent serine protein kinase | Soms (5–29%) | In 2 aandoeningen |
| CBFBcore-binding factor subunit beta | Soms (5–29%) | In 1 aandoening |
| CBScystathionine beta-synthase | Soms (5–29%) | In 1 aandoening |
| CHRM3cholinergic receptor muscarinic 3 | Soms (5–29%) | In 1 aandoening |
| CHRNA3cholinergic receptor nicotinic alpha 3 subunit | Soms (5–29%) | In 1 aandoening |
| CHRNGcholinergic receptor nicotinic gamma subunit | Soms (5–29%) | In 1 aandoening |
| COG4component of oligomeric golgi complex 4 | Soms (5–29%) | In 1 aandoening |
| COL12A1collagen type XII alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COMTcatechol-O-methyltransferase | Soms (5–29%) | In 1 aandoening |
| COX7Bcytochrome c oxidase subunit 7B | Soms (5–29%) | In 1 aandoening |
| CPSF3cleavage and polyadenylation specific factor 3 | Soms (5–29%) | In 1 aandoening |
| CUBNcubilin | Soms (5–29%) | In 1 aandoening |
| CYB5Acytochrome b5 type A | Soms (5–29%) | In 1 aandoening |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Soms (5–29%) | In 2 aandoeningen |
| DACT1dishevelled binding antagonist of beta catenin 1 | Soms (5–29%) | In 1 aandoening |
| DHX9DExH-box helicase 9 | Soms (5–29%) | In 1 aandoening |
| DLDdihydrolipoamide dehydrogenase | Soms (5–29%) | In 1 aandoening |
| DPYSdihydropyrimidinase | Soms (5–29%) | In 2 aandoeningen |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Soms (5–29%) | In 1 aandoening |
| EHMT1euchromatic histone lysine methyltransferase 1 | Soms (5–29%) | In 2 aandoeningen |
| EIF5Aeukaryotic translation initiation factor 5A | Soms (5–29%) | In 1 aandoening |
| ELAC2elaC ribonuclease Z 2 | Soms (5–29%) | In 1 aandoening |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Soms (5–29%) | In 1 aandoening |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| FAM111AFAM111 trypsin like peptidase A | Soms (5–29%) | In 1 aandoening |
| FBN1fibrillin 1 | Soms (5–29%) | In 1 aandoening |
| GJB2gap junction protein beta 2 | Soms (5–29%) | In 1 aandoening |
| GJB6gap junction protein beta 6 | Soms (5–29%) | In 1 aandoening |
| GNB2G protein subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| GP1BBglycoprotein Ib platelet subunit beta | Soms (5–29%) | In 1 aandoening |
| GPD1glycerol-3-phosphate dehydrogenase 1 | Soms (5–29%) | In 1 aandoening |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Soms (5–29%) | In 1 aandoening |
| GTPBP3GTP binding protein 3, mitochondrial | Soms (5–29%) | In 2 aandoeningen |
| GYS2glycogen synthase 2 | Soms (5–29%) | In 1 aandoening |
| H4C5H4 clustered histone 5 | Soms (5–29%) | In 1 aandoening |
| HADHhydroxyacyl-CoA dehydrogenase | Soms (5–29%) | In 1 aandoening |
| HCCSholocytochrome c synthase | Soms (5–29%) | In 1 aandoening |
| HIKESHIheat shock protein nuclear import factor hikeshi | Soms (5–29%) | In 1 aandoening |
| HIRAhistone cell cycle regulator | Soms (5–29%) | In 1 aandoening |
| HSD3B2hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | Soms (5–29%) | In 1 aandoening |
| HYMAIhydatidiform mole associated and imprinted | Soms (5–29%) | In 1 aandoening |
| IFT56intraflagellar transport 56 | Soms (5–29%) | In 1 aandoening |
| IL21Rinterleukin 21 receptor | Soms (5–29%) | In 1 aandoening |
| JAGN1jagunal vesicle mediated transporter 1 | Soms (5–29%) | In 1 aandoening |
| JMJD1Cjumonji domain containing 1C | Soms (5–29%) | In 1 aandoening |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Soms (5–29%) | In 1 aandoening |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Soms (5–29%) | In 1 aandoening |
| KMT2Alysine methyltransferase 2A | Soms (5–29%) | In 2 aandoeningen |
| KMT2Clysine methyltransferase 2C | Soms (5–29%) | In 1 aandoening |
| KMT5Blysine methyltransferase 5B | Soms (5–29%) | In 1 aandoening |
| KRT14keratin 14 | Soms (5–29%) | In 2 aandoeningen |
| KRT16keratin 16 | Soms (5–29%) | In 1 aandoening |
| KRT17keratin 17 | Soms (5–29%) | In 1 aandoening |
| KRT5keratin 5 | Soms (5–29%) | In 2 aandoeningen |
| KRT6Akeratin 6A | Soms (5–29%) | In 1 aandoening |
| KRT6Bkeratin 6B | Soms (5–29%) | In 1 aandoening |
| LGI3leucine rich repeat LGI family member 3 | Soms (5–29%) | In 1 aandoening |
| LRBALPS responsive beige-like anchor protein | Soms (5–29%) | In 1 aandoening |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Soms (5–29%) | In 1 aandoening |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Soms (5–29%) | In 2 aandoeningen |
| MKKSMKKS centrosomal shuttling protein | Soms (5–29%) | In 1 aandoening |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Soms (5–29%) | In 1 aandoening |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Soms (5–29%) | In 1 aandoening |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Soms (5–29%) | In 1 aandoening |
| MT-CYBmitochondrially encoded cytochrome b | Soms (5–29%) | In 1 aandoening |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Soms (5–29%) | In 1 aandoening |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Soms (5–29%) | In 1 aandoening |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Soms (5–29%) | In 1 aandoening |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Soms (5–29%) | In 1 aandoening |
| MTHFRmethylenetetrahydrofolate reductase | Soms (5–29%) | In 1 aandoening |
| MYO5Bmyosin VB | Soms (5–29%) | In 1 aandoening |
| MYT1Lmyelin transcription factor 1 like | Soms (5–29%) | In 1 aandoening |
| NAGSN-acetylglutamate synthase | Soms (5–29%) | In 2 aandoeningen |
| NCF2neutrophil cytosolic factor 2 | Soms (5–29%) | In 1 aandoening |
| NDPnorrin cystine knot growth factor NDP | Soms (5–29%) | In 1 aandoening |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Soms (5–29%) | In 1 aandoening |
| NFKB2nuclear factor kappa B subunit 2 | Soms (5–29%) | In 1 aandoening |
| NKX2-1NK2 homeobox 1 | Soms (5–29%) | In 1 aandoening |
| NONOnon-POU domain containing octamer binding | Soms (5–29%) | In 1 aandoening |
| NOTCH2notch receptor 2 | Soms (5–29%) | In 2 aandoeningen |
| NRCAMneuronal cell adhesion molecule | Soms (5–29%) | In 1 aandoening |
| NSRP1nuclear speckle splicing regulatory protein 1 | Soms (5–29%) | In 1 aandoening |
| OPLAH5-oxoprolinase, ATP-hydrolysing | Soms (5–29%) | In 1 aandoening |
| OTCornithine transcarbamylase | Soms (5–29%) | In 2 aandoeningen |
| PAX2paired box 2 | Soms (5–29%) | In 1 aandoening |
| PBX1PBX homeobox 1 | Soms (5–29%) | In 1 aandoening |
| PCSK1proprotein convertase subtilisin/kexin type 1 | Soms (5–29%) | In 1 aandoening |
| PDGFRBplatelet derived growth factor receptor beta | Soms (5–29%) | In 1 aandoening |
| PDHXpyruvate dehydrogenase complex component X | 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 |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Soms (5–29%) | In 1 aandoening |
| PLAGL1PLAG1 like zinc finger 1 | Soms (5–29%) | In 1 aandoening |
| PLCB1phospholipase C beta 1 | Soms (5–29%) | In 1 aandoening |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| POLGDNA polymerase gamma, catalytic subunit | Soms (5–29%) | In 2 aandoeningen |
| POLG2DNA polymerase gamma 2, accessory subunit | Soms (5–29%) | In 2 aandoeningen |
| POLR1BRNA polymerase I subunit B | Soms (5–29%) | In 1 aandoening |
| POLR1CRNA polymerase I and III subunit C | Soms (5–29%) | In 2 aandoeningen |
| POLR1DRNA polymerase I and III subunit D | Soms (5–29%) | In 1 aandoening |
| POLR2ARNA polymerase II subunit A | Soms (5–29%) | In 1 aandoening |
| POMCproopiomelanocortin | Soms (5–29%) | In 1 aandoening |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Soms (5–29%) | In 1 aandoening |
| PTENphosphatase and tensin homolog | Soms (5–29%) | In 1 aandoening |
| RAPSNreceptor associated protein of the synapse | Soms (5–29%) | In 1 aandoening |
| RNU7-1RNA, U7 small nuclear 1 | 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 1 aandoening |
| SEC24CSEC24 homolog C, COPII component | Soms (5–29%) | In 1 aandoening |
| SFTPCsurfactant protein C | Soms (5–29%) | In 1 aandoening |
| SH2B1SH2B adaptor protein 1 | Soms (5–29%) | In 1 aandoening |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Soms (5–29%) | In 1 aandoening |
| SIN3ASIN3 transcription regulator family member A | Soms (5–29%) | In 1 aandoening |
| SLC12A5solute carrier family 12 member 5 | Soms (5–29%) | In 1 aandoening |
| SLC25A22solute carrier family 25 member 22 | Soms (5–29%) | In 2 aandoeningen |
| SLC25A4solute carrier family 25 member 4 | Soms (5–29%) | In 1 aandoening |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Soms (5–29%) | In 1 aandoening |
| SNX10sorting nexin 10 | Soms (5–29%) | In 1 aandoening |
| SPTBN1spectrin beta, non-erythrocytic 1 | Soms (5–29%) | In 1 aandoening |
| SRD5A3steroid 5 alpha-reductase 3 | Soms (5–29%) | In 1 aandoening |
| STAG1STAG1 cohesin complex component | Soms (5–29%) | In 1 aandoening |
| STRA6signaling receptor and transporter of retinol STRA6 | Soms (5–29%) | In 1 aandoening |
| STRADASTE20 related adaptor alpha | Soms (5–29%) | In 1 aandoening |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Soms (5–29%) | In 1 aandoening |
| SUGCTsuccinyl-CoA:glutarate-CoA transferase | Soms (5–29%) | In 2 aandoeningen |
| SYT2synaptotagmin 2 | Soms (5–29%) | In 1 aandoening |
| TAOK1TAO kinase 1 | Soms (5–29%) | In 1 aandoening |
| TBC1D24TBC1 domain family member 24 | Soms (5–29%) | In 1 aandoening |
| TBL1XR1TBL1X/Y related 1 | Soms (5–29%) | In 1 aandoening |
| TBX1T-box transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| TBX4T-box transcription factor 4 | Soms (5–29%) | In 1 aandoening |
| TCOF1treacle ribosome biogenesis factor 1 | Soms (5–29%) | In 1 aandoening |
| TFRCtransferrin receptor | Soms (5–29%) | In 1 aandoening |
| TLL1tolloid like 1 | Soms (5–29%) | In 1 aandoening |
| TMEM106Btransmembrane protein 106B | Soms (5–29%) | In 1 aandoening |
| TRIOtrio Rho guanine nucleotide exchange factor | Soms (5–29%) | In 1 aandoening |
| TWNKtwinkle mtDNA helicase | Soms (5–29%) | In 1 aandoening |
| TYMSthymidylate synthetase | Soms (5–29%) | In 1 aandoening |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Soms (5–29%) | In 1 aandoening |
| UMPSuridine monophosphate synthetase | Soms (5–29%) | In 1 aandoening |
| WDR62WD repeat domain 62 | Soms (5–29%) | In 1 aandoening |
| WNT7BWnt family member 7B | Soms (5–29%) | In 1 aandoening |
| ZFP57ZFP57 zinc finger protein | Soms (5–29%) | In 1 aandoening |
| ZNFX1zinc finger NFX1-type containing 1 | Soms (5–29%) | In 1 aandoening |
| ZSWIM6zinc finger SWIM-type containing 6 | Soms (5–29%) | In 1 aandoening |
| ARXaristaless related homeobox | Zelden (1–4%) | In 1 aandoening |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Zelden (1–4%) | In 1 aandoening |
| CDKL5cyclin dependent kinase like 5 | Zelden (1–4%) | In 1 aandoening |
| DMXL2Dmx like 2 | Zelden (1–4%) | In 1 aandoening |
| GALK1galactokinase 1 | Zelden (1–4%) | In 1 aandoening |
| GALMgalactose mutarotase | Zelden (1–4%) | In 1 aandoening |
| GJA5gap junction protein alpha 5 | Zelden (1–4%) | In 1 aandoening |
| GJA8gap junction protein alpha 8 | Zelden (1–4%) | In 1 aandoening |
| GNAO1G protein subunit alpha o1 | Zelden (1–4%) | In 1 aandoening |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Zelden (1–4%) | In 1 aandoening |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Zelden (1–4%) | In 1 aandoening |
| NEUROD2neuronal differentiation 2 | Zelden (1–4%) | In 1 aandoening |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Zelden (1–4%) | In 1 aandoening |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Zelden (1–4%) | In 1 aandoening |
| PNKPpolynucleotide kinase 3'-phosphatase | Zelden (1–4%) | In 1 aandoening |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Zelden (1–4%) | In 1 aandoening |
| SIsucrase-isomaltase | Zelden (1–4%) | In 1 aandoening |
| SIK1salt inducible kinase 1 | Zelden (1–4%) | In 1 aandoening |
| SLC32A1solute carrier family 32 member 1 | Zelden (1–4%) | In 1 aandoening |
| TRIM8tripartite motif containing 8 | Zelden (1–4%) | In 1 aandoening |
| VPS37AVPS37A subunit of ESCRT-I | Zelden (1–4%) | In 1 aandoening |
| ABCA3ATP binding cassette subfamily A member 3 | Niet vastgelegd | In 1 aandoening |
| ABCB11ATP binding cassette subfamily B member 11 | Niet vastgelegd | In 1 aandoening |
| ACO2aconitase 2 | Niet vastgelegd | In 1 aandoening |
| AGPSalkylglycerone phosphate synthase | Niet vastgelegd | In 1 aandoening |
| ALDOBaldolase, fructose-bisphosphate B | Niet vastgelegd | In 1 aandoening |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Niet vastgelegd | In 1 aandoening |
| ALPLalkaline phosphatase, biomineralization associated | Niet vastgelegd | In 1 aandoening |
| AMACRalpha-methylacyl-CoA racemase | Niet vastgelegd | In 1 aandoening |
| AMER1APC membrane recruitment protein 1 | Niet vastgelegd | In 1 aandoening |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Niet vastgelegd | In 1 aandoening |
| ARPC1Bactin related protein 2/3 complex subunit 1B | Niet vastgelegd | In 1 aandoening |
| ASLargininosuccinate lyase | Niet vastgelegd | In 1 aandoening |
| ASS1argininosuccinate synthase 1 | Niet vastgelegd | In 1 aandoening |
| ATP6V0A4ATPase H+ transporting V0 subunit a4 | Niet vastgelegd | In 1 aandoening |
| ATP8B1ATPase phospholipid transporting 8B1 | Niet vastgelegd | In 1 aandoening |
| B4GALT7beta-1,4-galactosyltransferase 7 | Niet vastgelegd | In 1 aandoening |
| BMP4bone morphogenetic protein 4 | Niet vastgelegd | In 1 aandoening |
| BRCA1BRCA1 DNA repair associated | Niet vastgelegd | In 1 aandoening |
| CASRcalcium sensing receptor | Niet vastgelegd | In 1 aandoening |
| CAVIN1caveolae associated protein 1 | Niet vastgelegd | In 1 aandoening |
| CD3DCD3 delta subunit of T-cell receptor complex | Niet vastgelegd | In 1 aandoening |
| CD96CD96 molecule | Niet vastgelegd | In 1 aandoening |
| CITcitron rho-interacting serine/threonine kinase | Niet vastgelegd | In 1 aandoening |
| COL6A1collagen type VI alpha 1 chain | Niet vastgelegd | In 1 aandoening |
| CPS1carbamoyl-phosphate synthase 1 | Niet vastgelegd | In 1 aandoening |
| DGAT1diacylglycerol O-acyltransferase 1 | Niet vastgelegd | In 1 aandoening |
| DHCR77-dehydrocholesterol reductase | Niet vastgelegd | In 1 aandoening |
| DNMT3BDNA methyltransferase 3 beta | Niet vastgelegd | In 1 aandoening |
| DPYDdihydropyrimidine dehydrogenase | Niet vastgelegd | In 1 aandoening |
| DYNC2I1dynein 2 intermediate chain 1 | Niet vastgelegd | In 1 aandoening |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| EPG5ectopic P-granules 5 autophagy tethering factor | Niet vastgelegd | In 1 aandoening |
| FAHfumarylacetoacetate hydrolase | Niet vastgelegd | In 1 aandoening |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Niet vastgelegd | In 1 aandoening |
| FHfumarate hydratase | Niet vastgelegd | In 1 aandoening |
| FLCNfolliculin | Niet vastgelegd | In 1 aandoening |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Niet vastgelegd | In 1 aandoening |
| GALEUDP-galactose-4-epimerase | Niet vastgelegd | In 1 aandoening |
| GALTgalactose-1-phosphate uridylyltransferase | Niet vastgelegd | In 1 aandoening |
| GATMglycine amidinotransferase | Niet vastgelegd | In 1 aandoening |
| GBE11,4-alpha-glucan branching enzyme 1 | Niet vastgelegd | In 1 aandoening |
| GCDHglutaryl-CoA dehydrogenase | Niet vastgelegd | In 1 aandoening |
| GNPATglyceronephosphate O-acyltransferase | Niet vastgelegd | In 1 aandoening |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Niet vastgelegd | In 1 aandoening |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Niet vastgelegd | In 1 aandoening |
| HRASHRas proto-oncogene, GTPase | Niet vastgelegd | In 1 aandoening |
| IFNGinterferon gamma | Niet vastgelegd | In 1 aandoening |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Niet vastgelegd | In 1 aandoening |
| JAG1jagged canonical Notch ligand 1 | Niet vastgelegd | In 1 aandoening |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Niet vastgelegd | In 1 aandoening |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Niet vastgelegd | In 1 aandoening |
| KIF1Bkinesin family member 1B | Niet vastgelegd | In 1 aandoening |
| LARS1leucyl-tRNA synthetase 1 | Niet vastgelegd | In 1 aandoening |
| LIG4DNA ligase 4 | Niet vastgelegd | In 1 aandoening |
| LYRM7LYR motif containing 7 | Niet vastgelegd | In 1 aandoening |
| MBL2mannose binding lectin 2 | Niet vastgelegd | In 1 aandoening |
| MEGF10multiple EGF like domains 10 | Niet vastgelegd | In 1 aandoening |
| MMAAmetabolism of cobalamin associated A | Niet vastgelegd | In 1 aandoening |
| MMABmetabolism of cobalamin associated B | Niet vastgelegd | In 1 aandoening |
| MPDU1mannose-P-dolichol utilization defect 1 | Niet vastgelegd | In 1 aandoening |
| MTO1mitochondrial tRNA translation optimization 1 | Niet vastgelegd | In 1 aandoening |
| MVKmevalonate kinase | Niet vastgelegd | In 1 aandoening |
| MYMKmyomaker, myoblast fusion factor | Niet vastgelegd | In 1 aandoening |
| NFASCneurofascin | Niet vastgelegd | In 1 aandoening |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Niet vastgelegd | In 1 aandoening |
| NR3C2nuclear receptor subfamily 3 group C member 2 | Niet vastgelegd | In 1 aandoening |
| OCLNoccludin | Niet vastgelegd | In 1 aandoening |
| PCCApropionyl-CoA carboxylase subunit alpha | Niet vastgelegd | In 1 aandoening |
| PCCBpropionyl-CoA carboxylase subunit beta | Niet vastgelegd | In 1 aandoening |
| PCGF2polycomb group ring finger 2 | Niet vastgelegd | In 1 aandoening |
| PET100PET100 cytochrome c oxidase chaperone | Niet vastgelegd | In 1 aandoening |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Niet vastgelegd | In 1 aandoening |
| PNPpurine nucleoside phosphorylase | Niet vastgelegd | In 1 aandoening |
| POMPproteasome maturation protein | Niet vastgelegd | In 1 aandoening |
| PRDX1peroxiredoxin 1 | Niet vastgelegd | In 1 aandoening |
| PRF1perforin 1 | Niet vastgelegd | In 1 aandoening |
| PSMB4proteasome 20S subunit beta 4 | Niet vastgelegd | In 1 aandoening |
| PTDSS1phosphatidylserine synthase 1 | Niet vastgelegd | In 1 aandoening |
| PTF1Apancreas associated transcription factor 1a | Niet vastgelegd | In 1 aandoening |
| PUS1pseudouridine synthase 1 | Niet vastgelegd | In 1 aandoening |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Niet vastgelegd | In 1 aandoening |
| RNU4ATACRNA, U4atac small nuclear | Niet vastgelegd | In 1 aandoening |
| RPL5ribosomal protein L5 | Niet vastgelegd | In 1 aandoening |
| RPS19ribosomal protein S19 | Niet vastgelegd | In 1 aandoening |
| SCNN1Asodium channel epithelial 1 subunit alpha | Niet vastgelegd | In 1 aandoening |
| SERAC1serine active site containing 1 | Niet vastgelegd | In 1 aandoening |
| SETBP1SET binding protein 1 | Niet vastgelegd | In 1 aandoening |
| SFTPBsurfactant protein B | Niet vastgelegd | In 1 aandoening |
| SIL1SIL1 nucleotide exchange factor | Niet vastgelegd | In 1 aandoening |
| SKIC2SKI2 subunit of superkiller complex | Niet vastgelegd | In 1 aandoening |
| SKIC3SKI3 subunit of superkiller complex | Niet vastgelegd | In 1 aandoening |
| SLC10A2solute carrier family 10 member 2 | Niet vastgelegd | In 1 aandoening |
| SLC12A1solute carrier family 12 member 1 | Niet vastgelegd | In 1 aandoening |
| SLC17A5solute carrier family 17 member 5 | Niet vastgelegd | In 1 aandoening |
| SLC22A5solute carrier family 22 member 5 | Niet vastgelegd | In 1 aandoening |
| SLC25A13solute carrier family 25 member 13 | Niet vastgelegd | In 1 aandoening |
| SLC26A3solute carrier family 26 member 3 | Niet vastgelegd | In 1 aandoening |
| SLC34A3solute carrier family 34 member 3 | Niet vastgelegd | In 1 aandoening |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Niet vastgelegd | In 1 aandoening |
| SRP54signal recognition particle 54 | Niet vastgelegd | In 1 aandoening |
| STAMBPSTAM binding protein | Niet vastgelegd | In 1 aandoening |
| TALDO1transaldolase 1 | Niet vastgelegd | In 1 aandoening |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Niet vastgelegd | In 1 aandoening |
| TJP2tight junction protein 2 | Niet vastgelegd | In 1 aandoening |
| TMEM70transmembrane protein 70 | Niet vastgelegd | In 1 aandoening |
| TMPRSS15transmembrane serine protease 15 | Niet vastgelegd | In 1 aandoening |
| TNPO2transportin 2 | Niet vastgelegd | In 1 aandoening |
| TRIT1tRNA isopentenyltransferase 1 | Niet vastgelegd | In 1 aandoening |
| VDRvitamin D receptor | Niet vastgelegd | In 1 aandoening |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Niet vastgelegd | In 1 aandoening |
| VPS33BVPS33B late endosome and lysosome associated | Niet vastgelegd | In 1 aandoening |
| WNT2BWnt family member 2B | Niet vastgelegd | In 1 aandoening |
| ZIC3Zic family zinc finger 3 | 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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