Kenmerk
Cross-eyed
Klinische naam: Strabismus
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Samenvatting
- Ook bekend als
- Squint, Squint eyes
- Lichaamssysteem
- Abnormality of the eye
ReferentiegenoomGRCh38hg38
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Mijn Genome Test bestellen1.065 genen gekoppeld aan Cross-eyed
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Cross-eyed 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 |
|---|---|---|
| ABCA4ATP binding cassette subfamily A member 4 | Altijd | In 1 aandoening |
| ABCB7ATP binding cassette subfamily B member 7 | Altijd | In 2 aandoeningen |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Altijd | In 1 aandoening |
| ALX4ALX homeobox 4 | Altijd | In 3 aandoeningen |
| ANTXR1ANTXR cell adhesion molecule 1 | Altijd | In 1 aandoening |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Altijd | In 1 aandoening |
| ARID1AAT-rich interaction domain 1A | Altijd | In 2 aandoeningen |
| ASH1LASH1 like histone lysine methyltransferase | Altijd | In 1 aandoening |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Altijd | In 2 aandoeningen |
| BCL11ABCL11 transcription factor A | Altijd | In 2 aandoeningen |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Altijd | In 1 aandoening |
| CC2D2Acoiled-coil and C2 domain containing 2A | Altijd | In 3 aandoeningen |
| CLDN11claudin 11 | Altijd | In 1 aandoening |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Altijd | In 2 aandoeningen |
| CNTNAP2contactin associated protein 2 | Altijd | In 1 aandoening |
| COL4A2collagen type IV alpha 2 chain | Altijd | In 1 aandoening |
| CPAPcentrosome assembly and centriole elongation protein | Altijd | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Altijd | In 4 aandoeningen |
| CRELD1CRELD disulfide isomerase 1 | Altijd | In 1 aandoening |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Altijd | In 1 aandoening |
| CWF19L1CWF19 like cell cycle control factor 1 | Altijd | In 1 aandoening |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Altijd | In 1 aandoening |
| EP300EP300 lysine acetyltransferase | Altijd | In 4 aandoeningen |
| ERI1exoribonuclease 1 | Altijd | In 1 aandoening |
| ERMARDER membrane associated RNA degradation | Altijd | In 2 aandoeningen |
| EXOSC1exosome component 1 | Altijd | In 1 aandoening |
| FAM149B1family with sequence similarity 149 member B1 | Altijd | In 1 aandoening |
| FBXO11F-box protein 11 | Altijd | In 1 aandoening |
| FBXO28F-box protein 28 | Altijd | In 1 aandoening |
| FDXRferredoxin reductase | Altijd | In 1 aandoening |
| GANgigaxonin | Altijd | In 1 aandoening |
| GATAD2BGATA zinc finger domain containing 2B | Altijd | In 2 aandoeningen |
| GOLGA2golgin A2 | Altijd | In 1 aandoening |
| GON4Lgon-4 like | Altijd | In 1 aandoening |
| GRM1glutamate metabotropic receptor 1 | Altijd | In 1 aandoening |
| GTPBP1GTP binding protein 1 | Altijd | In 1 aandoening |
| HSPD1heat shock protein family D (Hsp60) member 1 | Altijd | In 1 aandoening |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altijd | In 1 aandoening |
| INPP5Einositol polyphosphate-5-phosphatase E | Altijd | In 4 aandoeningen |
| INTS11integrator complex subunit 11 | Altijd | In 1 aandoening |
Toon nog 1.025 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altijd | In 1 aandoening |
| JKAMPJNK1/MAPK8 associated membrane protein | Altijd | In 1 aandoening |
| KDM2Blysine demethylase 2B | Altijd | In 1 aandoening |
| LBRlamin B receptor | Altijd | In 1 aandoening |
| LGI4leucine rich repeat LGI family member 4 | Altijd | In 1 aandoening |
| LRRC7leucine rich repeat containing 7 | Altijd | In 1 aandoening |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Altijd | In 1 aandoening |
| MAB21L1mab-21 like 1 | Altijd | In 2 aandoeningen |
| MAN2B2mannosidase alpha class 2B member 2 | Altijd | In 1 aandoening |
| MAP2K2mitogen-activated protein kinase kinase 2 | Altijd | In 3 aandoeningen |
| MYT1Lmyelin transcription factor 1 like | Altijd | In 2 aandoeningen |
| NALCNsodium leak channel, non-selective | Altijd | In 4 aandoeningen |
| NEXMIFneurite extension and migration factor | Altijd | In 1 aandoening |
| NHEJ1non-homologous end joining factor 1 | Altijd | In 1 aandoening |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Altijd | In 2 aandoeningen |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Altijd | In 1 aandoening |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Altijd | In 2 aandoeningen |
| NUP133nucleoporin 133 | Altijd | In 1 aandoening |
| P4HTMprolyl 4-hydroxylase, transmembrane | Altijd | In 1 aandoening |
| PDCD6IPprogrammed cell death 6 interacting protein | Altijd | In 1 aandoening |
| PEX11Bperoxisomal biogenesis factor 11 beta | Altijd | In 2 aandoeningen |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Altijd | In 2 aandoeningen |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Altijd | In 1 aandoening |
| PPFIA3PPFI scaffold protein A3 | Altijd | In 1 aandoening |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Altijd | In 1 aandoening |
| PUS3pseudouridine synthase 3 | Altijd | In 2 aandoeningen |
| RAI1retinoic acid induced 1 | Altijd | In 3 aandoeningen |
| RFC4replication factor C subunit 4 | Altijd | In 1 aandoening |
| RNF2ring finger protein 2 | Altijd | In 1 aandoening |
| RNU6ATACRNA, U6atac small nuclear | Altijd | In 1 aandoening |
| RPS6KC1ribosomal protein S6 kinase C1 | Altijd | In 1 aandoening |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Altijd | In 2 aandoeningen |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Altijd | In 1 aandoening |
| SCO2synthesis of cytochrome C oxidase 2 | Altijd | In 1 aandoening |
| SF3B4splicing factor 3b subunit 4 | Altijd | In 1 aandoening |
| SIN3ASIN3 transcription regulator family member A | Altijd | In 2 aandoeningen |
| SLC13A1solute carrier family 13 member 1 | Altijd | In 1 aandoening |
| SLC30A9solute carrier family 30 member 9 | Altijd | In 1 aandoening |
| SLC37A4solute carrier family 37 member 4 | Altijd | In 1 aandoening |
| SLC9A6solute carrier family 9 member A6 | Altijd | In 2 aandoeningen |
| SPTBN2spectrin beta, non-erythrocytic 2 | Altijd | In 2 aandoeningen |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Altijd | In 4 aandoeningen |
| TBCBtubulin folding cofactor B | Altijd | In 1 aandoening |
| TGFBR1transforming growth factor beta receptor 1 | Altijd | In 1 aandoening |
| TIMM50translocase of inner mitochondrial membrane 50 | Altijd | In 1 aandoening |
| TMEM216transmembrane protein 216 | Altijd | In 2 aandoeningen |
| TOR1Atorsin family 1 member A | Altijd | In 1 aandoening |
| TUBB3tubulin beta 3 class III | Altijd | In 4 aandoeningen |
| UBA2ubiquitin like modifier activating enzyme 2 | Altijd | In 1 aandoening |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Altijd | In 1 aandoening |
| UNC13Aunc-13 homolog A | Altijd | In 1 aandoening |
| VLDLRvery low density lipoprotein receptor | Altijd | In 2 aandoeningen |
| VPS51VPS51 subunit of GARP complex | Altijd | In 1 aandoening |
| VPS53VPS53 subunit of GARP complex | Altijd | In 1 aandoening |
| ZNF407zinc finger protein 407 | Altijd | In 1 aandoening |
| ADAT3adenosine deaminase tRNA specific 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| AGKacylglycerol kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| ALDH1A3aldehyde dehydrogenase 1 family member A3 | Heel vaak (80–99%) | In 1 aandoening |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Heel vaak (80–99%) | In 1 aandoening |
| ASCL1achaete-scute family bHLH transcription factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| ATCAYATCAY kinesin light chain interacting caytaxin | Heel vaak (80–99%) | In 1 aandoening |
| ATMATM serine/threonine kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| ATP13A2ATPase cation transporting 13A2 | Heel vaak (80–99%) | In 1 aandoening |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Heel vaak (80–99%) | In 1 aandoening |
| BCAP31B cell receptor associated protein 31 | Heel vaak (80–99%) | In 3 aandoeningen |
| BEST1bestrophin 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CDH11cadherin 11 | Heel vaak (80–99%) | In 2 aandoeningen |
| CHN1chimerin 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CHST14carbohydrate sulfotransferase 14 | Heel vaak (80–99%) | In 2 aandoeningen |
| COL25A1collagen type XXV alpha 1 chain | Heel vaak (80–99%) | In 1 aandoening |
| CRB1crumbs cell polarity complex component 1 | Heel vaak (80–99%) | In 1 aandoening |
| CRPPACDP-L-ribitol pyrophosphorylase A | Heel vaak (80–99%) | In 1 aandoening |
| CTDP1CTD phosphatase 1 | Heel vaak (80–99%) | In 1 aandoening |
| EBF3EBF transcription factor 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| FKRPfukutin related protein | Heel vaak (80–99%) | In 3 aandoeningen |
| FKTNfukutin | Heel vaak (80–99%) | In 2 aandoeningen |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| GBA1glucosylceramidase beta 1 | Heel vaak (80–99%) | In 7 aandoeningen |
| GGCXgamma-glutamyl carboxylase | Heel vaak (80–99%) | In 1 aandoening |
| GJC2gap junction protein gamma 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| GMPPBGDP-mannose pyrophosphorylase B | Heel vaak (80–99%) | In 4 aandoeningen |
| KIF21Akinesin family member 21A | Heel vaak (80–99%) | In 1 aandoening |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| MAFBMAF bZIP transcription factor B | Heel vaak (80–99%) | In 1 aandoening |
| MCOLN1mucolipin TRP cation channel 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| MFRPmembrane frizzled-related protein | Heel vaak (80–99%) | In 1 aandoening |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Heel vaak (80–99%) | In 1 aandoening |
| NAGAalpha-N-acetylgalactosaminidase | Heel vaak (80–99%) | In 3 aandoeningen |
| NDPnorrin cystine knot growth factor NDP | Heel vaak (80–99%) | In 3 aandoeningen |
| 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 |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | 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 1 aandoening |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Heel vaak (80–99%) | In 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 2 aandoeningen |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Heel vaak (80–99%) | In 1 aandoening |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Heel vaak (80–99%) | In 2 aandoeningen |
| OTX2orthodenticle homeobox 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| PAX6paired box 6 | Heel vaak (80–99%) | In 6 aandoeningen |
| PEX1peroxisomal biogenesis factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| PEX10peroxisomal biogenesis factor 10 | Heel vaak (80–99%) | In 1 aandoening |
| PEX12peroxisomal biogenesis factor 12 | Heel vaak (80–99%) | In 1 aandoening |
| PEX13peroxisomal biogenesis factor 13 | Heel vaak (80–99%) | In 1 aandoening |
| PEX14peroxisomal biogenesis factor 14 | Heel vaak (80–99%) | In 1 aandoening |
| PEX16peroxisomal biogenesis factor 16 | Heel vaak (80–99%) | In 1 aandoening |
| PEX19peroxisomal biogenesis factor 19 | Heel vaak (80–99%) | In 1 aandoening |
| PEX2peroxisomal biogenesis factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| PEX26peroxisomal biogenesis factor 26 | Heel vaak (80–99%) | In 1 aandoening |
| PEX3peroxisomal biogenesis factor 3 | Heel vaak (80–99%) | In 1 aandoening |
| PEX5peroxisomal biogenesis factor 5 | Heel vaak (80–99%) | In 1 aandoening |
| PEX6peroxisomal biogenesis factor 6 | Heel vaak (80–99%) | In 1 aandoening |
| PHOX2Apaired like homeobox 2A | Heel vaak (80–99%) | In 1 aandoening |
| PHOX2Bpaired like homeobox 2B | Heel vaak (80–99%) | In 1 aandoening |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Heel vaak (80–99%) | In 2 aandoeningen |
| PLXND1plexin D1 | Heel vaak (80–99%) | In 1 aandoening |
| PMM2phosphomannomutase 2 | Heel vaak (80–99%) | In 1 aandoening |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Heel vaak (80–99%) | In 4 aandoeningen |
| POMT1protein O-mannosyltransferase 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| POMT2protein O-mannosyltransferase 2 | Heel vaak (80–99%) | In 4 aandoeningen |
| PRSS56serine protease 56 | Heel vaak (80–99%) | In 1 aandoening |
| PTCH1patched 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| RAXretina and anterior neural fold homeobox | Heel vaak (80–99%) | In 1 aandoening |
| RETret proto-oncogene | Heel vaak (80–99%) | In 1 aandoening |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Heel vaak (80–99%) | In 1 aandoening |
| RPGRIP1RPGR interacting protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| SALL4spalt like transcription factor 4 | Heel vaak (80–99%) | In 5 aandoeningen |
| SIL1SIL1 nucleotide exchange factor | Heel vaak (80–99%) | In 2 aandoeningen |
| SIX6SIX homeobox 6 | Heel vaak (80–99%) | In 1 aandoening |
| SLC25A24solute carrier family 25 member 24 | Heel vaak (80–99%) | In 1 aandoening |
| SLC25A4solute carrier family 25 member 4 | Heel vaak (80–99%) | In 1 aandoening |
| SLC39A8solute carrier family 39 member 8 | Heel vaak (80–99%) | In 2 aandoeningen |
| SMG9SMG9 nonsense mediated mRNA decay factor | Heel vaak (80–99%) | In 1 aandoening |
| SOBPsine oculis binding protein homolog | Heel vaak (80–99%) | In 1 aandoening |
| SOX2SRY-box transcription factor 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| SSR4signal sequence receptor subunit 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| TKFCtriokinase and FMN cyclase | Heel vaak (80–99%) | In 1 aandoening |
| TMEM126Btransmembrane protein 126B | Heel vaak (80–99%) | In 1 aandoening |
| TMEM98transmembrane protein 98 | Heel vaak (80–99%) | In 1 aandoening |
| TUBA1Atubulin alpha 1a | Heel vaak (80–99%) | In 3 aandoeningen |
| TUBB2Btubulin beta 2B class IIb | Heel vaak (80–99%) | In 4 aandoeningen |
| TYRtyrosinase | Heel vaak (80–99%) | In 2 aandoeningen |
| WASF1WASP family member 1 | Heel vaak (80–99%) | In 1 aandoening |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Vaak (30–79%) | In 2 aandoeningen |
| ACO2aconitase 2 | Vaak (30–79%) | In 1 aandoening |
| ACOX1acyl-CoA oxidase 1 | Vaak (30–79%) | In 2 aandoeningen |
| ADAMTS15ADAM metallopeptidase with thrombospondin type 1 motif 15 | Vaak (30–79%) | In 1 aandoening |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Vaak (30–79%) | In 1 aandoening |
| ADAMTSL2ADAMTS like 2 | Vaak (30–79%) | In 1 aandoening |
| ADSLadenylosuccinate lyase | Vaak (30–79%) | In 1 aandoening |
| AFF3ALF transcription elongation factor 3 | Vaak (30–79%) | In 1 aandoening |
| AGO2argonaute RISC catalytic component 2 | Vaak (30–79%) | In 1 aandoening |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Vaak (30–79%) | In 2 aandoeningen |
| AHCYadenosylhomocysteinase | Vaak (30–79%) | In 1 aandoening |
| AHDC1AT-hook DNA binding motif containing 1 | Vaak (30–79%) | In 2 aandoeningen |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Vaak (30–79%) | In 1 aandoening |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Vaak (30–79%) | In 1 aandoening |
| ALX3ALX homeobox 3 | Vaak (30–79%) | In 1 aandoening |
| AMMECR1AMMECR nuclear protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| ANAPC7anaphase promoting complex subunit 7 | Vaak (30–79%) | In 1 aandoening |
| ANKRD11ankyrin repeat domain 11 | Vaak (30–79%) | In 2 aandoeningen |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Vaak (30–79%) | In 2 aandoeningen |
| ARHGAP31Rho GTPase activating protein 31 | Vaak (30–79%) | In 1 aandoening |
| ARID1BAT-rich interaction domain 1B | Vaak (30–79%) | In 2 aandoeningen |
| ARID2AT-rich interaction domain 2 | Vaak (30–79%) | In 1 aandoening |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Vaak (30–79%) | In 1 aandoening |
| ARPC4actin related protein 2/3 complex subunit 4 | Vaak (30–79%) | In 1 aandoening |
| ARXaristaless related homeobox | Vaak (30–79%) | In 3 aandoeningen |
| ASXL1ASXL transcriptional regulator 1 | Vaak (30–79%) | In 1 aandoening |
| ASXL3ASXL transcriptional regulator 3 | Vaak (30–79%) | In 2 aandoeningen |
| ATG7autophagy related 7 | Vaak (30–79%) | In 1 aandoening |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Vaak (30–79%) | In 2 aandoeningen |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Vaak (30–79%) | In 2 aandoeningen |
| ATP6V1AATPase H+ transporting V1 subunit A | Vaak (30–79%) | In 1 aandoening |
| ATP8A2ATPase phospholipid transporting 8A2 | Vaak (30–79%) | In 1 aandoening |
| ATP9AATPase phospholipid transporting 9A | Vaak (30–79%) | In 1 aandoening |
| ATXN7L3ataxin 7 like 3 | Vaak (30–79%) | In 1 aandoening |
| AUTS2activator of transcription and developmental regulator AUTS2 | Vaak (30–79%) | In 2 aandoeningen |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Vaak (30–79%) | In 1 aandoening |
| BBS9Bardet-Biedl syndrome 9 | Vaak (30–79%) | In 2 aandoeningen |
| BCAS3BCAS3 microtubule associated cell migration factor | Vaak (30–79%) | In 1 aandoening |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Vaak (30–79%) | In 1 aandoening |
| BLOC1S5biogenesis of lysosomal organelles complex 1 subunit 5 | Vaak (30–79%) | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Vaak (30–79%) | In 4 aandoeningen |
| BRD4bromodomain containing 4 | Vaak (30–79%) | In 2 aandoeningen |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Vaak (30–79%) | In 1 aandoening |
| CA8carbonic anhydrase 8 (inactive) | Vaak (30–79%) | In 2 aandoeningen |
| CACHD1cache domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Vaak (30–79%) | In 1 aandoening |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Vaak (30–79%) | In 2 aandoeningen |
| CAMTA1calmodulin binding transcription activator 1 | Vaak (30–79%) | In 2 aandoeningen |
| CASKcalcium/calmodulin dependent serine protein kinase | Vaak (30–79%) | In 3 aandoeningen |
| CASZ1castor zinc finger 1 | Vaak (30–79%) | In 1 aandoening |
| CBLCbl proto-oncogene | Vaak (30–79%) | In 1 aandoening |
| CD96CD96 molecule | Vaak (30–79%) | In 2 aandoeningen |
| CDH2cadherin 2 | Vaak (30–79%) | In 1 aandoening |
| CDK13cyclin dependent kinase 13 | Vaak (30–79%) | In 1 aandoening |
| CDK8cyclin dependent kinase 8 | Vaak (30–79%) | In 1 aandoening |
| CEP85Lcentrosomal protein 85L | Vaak (30–79%) | In 1 aandoening |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Vaak (30–79%) | In 1 aandoening |
| CHD3chromodomain helicase DNA binding protein 3 | Vaak (30–79%) | In 1 aandoening |
| CHD7chromodomain helicase DNA binding protein 7 | Vaak (30–79%) | In 1 aandoening |
| CLCN3Cl-/H+ antiporter 3 | Vaak (30–79%) | In 1 aandoening |
| CLIP2CAP-Gly domain containing linker protein 2 | Vaak (30–79%) | In 1 aandoening |
| CLTCL1clathrin heavy chain like 1 | Vaak (30–79%) | In 1 aandoening |
| CLTRNcollectrin, amino acid transport regulator | Vaak (30–79%) | In 1 aandoening |
| COG3component of oligomeric golgi complex 3 | Vaak (30–79%) | In 1 aandoening |
| COL1A2collagen type I alpha 2 chain | Vaak (30–79%) | In 1 aandoening |
| COQ8Acoenzyme Q8A | Vaak (30–79%) | In 2 aandoeningen |
| CPLX1complexin 1 | Vaak (30–79%) | In 3 aandoeningen |
| CPSF3cleavage and polyadenylation specific factor 3 | Vaak (30–79%) | In 1 aandoening |
| CTBP1C-terminal binding protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| CTCFCCCTC-binding factor | Vaak (30–79%) | In 2 aandoeningen |
| DCCDCC netrin 1 receptor | Vaak (30–79%) | In 1 aandoening |
| DCNdecorin | Vaak (30–79%) | In 1 aandoening |
| DDB2damage specific DNA binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| DDHD2DDHD domain containing 2 | Vaak (30–79%) | In 2 aandoeningen |
| DDX3XDEAD-box helicase 3 X-linked | Vaak (30–79%) | In 1 aandoening |
| DDX6DEAD-box helicase 6 | Vaak (30–79%) | In 1 aandoening |
| DHCR2424-dehydrocholesterol reductase | Vaak (30–79%) | In 2 aandoeningen |
| DHX30DExH-box helicase 30 | Vaak (30–79%) | In 1 aandoening |
| DLG3discs large MAGUK scaffold protein 3 | Vaak (30–79%) | In 1 aandoening |
| DLG4discs large MAGUK scaffold protein 4 | Vaak (30–79%) | In 1 aandoening |
| DLL4delta like canonical Notch ligand 4 | Vaak (30–79%) | In 1 aandoening |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Vaak (30–79%) | In 1 aandoening |
| DOCK6dedicator of cytokinesis 6 | Vaak (30–79%) | In 2 aandoeningen |
| DOHHdeoxyhypusine hydroxylase | Vaak (30–79%) | In 1 aandoening |
| DPF2double PHD fingers 2 | Vaak (30–79%) | In 2 aandoeningen |
| DPYSL5dihydropyrimidinase like 5 | Vaak (30–79%) | In 1 aandoening |
| DSEdermatan sulfate epimerase | Vaak (30–79%) | In 1 aandoening |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Vaak (30–79%) | In 1 aandoening |
| EHMT1euchromatic histone lysine methyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| EIF4Heukaryotic translation initiation factor 4H | Vaak (30–79%) | In 1 aandoening |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| ELNelastin | Vaak (30–79%) | In 3 aandoeningen |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Vaak (30–79%) | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Vaak (30–79%) | In 3 aandoeningen |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Vaak (30–79%) | In 2 aandoeningen |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Vaak (30–79%) | In 3 aandoeningen |
| ERCC5ERCC excision repair 5, endonuclease | Vaak (30–79%) | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Vaak (30–79%) | In 5 aandoeningen |
| EVCEvC ciliary complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| EVC2EvC ciliary complex subunit 2 | Vaak (30–79%) | In 1 aandoening |
| EXOSC2exosome component 2 | Vaak (30–79%) | In 1 aandoening |
| EXOSC5exosome component 5 | Vaak (30–79%) | In 1 aandoening |
| EXT2exostosin glycosyltransferase 2 | Vaak (30–79%) | In 2 aandoeningen |
| FBN1fibrillin 1 | Vaak (30–79%) | In 4 aandoeningen |
| FCSKfucose kinase | Vaak (30–79%) | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Vaak (30–79%) | In 3 aandoeningen |
| FGFR2fibroblast growth factor receptor 2 | Vaak (30–79%) | In 8 aandoeningen |
| FGFR3fibroblast growth factor receptor 3 | Vaak (30–79%) | In 3 aandoeningen |
| FGFRL1fibroblast growth factor receptor like 1 | Vaak (30–79%) | In 1 aandoening |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Vaak (30–79%) | In 1 aandoening |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Vaak (30–79%) | In 1 aandoening |
| FOXC1forkhead box C1 | Vaak (30–79%) | In 2 aandoeningen |
| FOXP1forkhead box P1 | Vaak (30–79%) | In 2 aandoeningen |
| FRMD4AFERM domain containing 4A | Vaak (30–79%) | In 2 aandoeningen |
| FRMPD4FERM and PDZ domain containing 4 | Vaak (30–79%) | In 1 aandoening |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Vaak (30–79%) | In 1 aandoening |
| GLI1GLI family zinc finger 1 | Vaak (30–79%) | In 1 aandoening |
| GNAQG protein subunit alpha q | Vaak (30–79%) | In 1 aandoening |
| GNB1G protein subunit beta 1 | Vaak (30–79%) | In 2 aandoeningen |
| GPR143G protein-coupled receptor 143 | Vaak (30–79%) | In 1 aandoening |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| GTF2Igeneral transcription factor IIi | Vaak (30–79%) | In 1 aandoening |
| GTF2IRD1GTF2I repeat domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| GTF2IRD2GTF2I repeat domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| GTPBP2GTP binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| H4C3H4 clustered histone 3 | Vaak (30–79%) | In 1 aandoening |
| H4C9H4 clustered histone 9 | Vaak (30–79%) | In 1 aandoening |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Vaak (30–79%) | In 1 aandoening |
| HESX1HESX homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| HHAThedgehog acyltransferase | Vaak (30–79%) | In 1 aandoening |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Vaak (30–79%) | In 2 aandoeningen |
| HIVEP2HIVEP zinc finger 2 | Vaak (30–79%) | In 1 aandoening |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Vaak (30–79%) | In 1 aandoening |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Vaak (30–79%) | In 1 aandoening |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Vaak (30–79%) | In 1 aandoening |
| HRASHRas proto-oncogene, GTPase | Vaak (30–79%) | In 2 aandoeningen |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Vaak (30–79%) | In 1 aandoening |
| HSPG2heparan sulfate proteoglycan 2 | Vaak (30–79%) | In 2 aandoeningen |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Vaak (30–79%) | In 1 aandoening |
| IFT140intraflagellar transport 140 | Vaak (30–79%) | In 1 aandoening |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Vaak (30–79%) | In 2 aandoeningen |
| IL1RAPL1interleukin 1 receptor accessory protein like 1 | Vaak (30–79%) | In 1 aandoening |
| ISCA1iron-sulfur cluster assembly 1 | Vaak (30–79%) | In 1 aandoening |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| KAT5lysine acetyltransferase 5 | Vaak (30–79%) | In 1 aandoening |
| KAT6Alysine acetyltransferase 6A | Vaak (30–79%) | In 2 aandoeningen |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Vaak (30–79%) | In 1 aandoening |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Vaak (30–79%) | In 1 aandoening |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Vaak (30–79%) | In 1 aandoening |
| KDM1Alysine demethylase 1A | Vaak (30–79%) | In 2 aandoeningen |
| KDM5Blysine demethylase 5B | Vaak (30–79%) | In 1 aandoening |
| KDM5Clysine demethylase 5C | Vaak (30–79%) | In 2 aandoeningen |
| KDM6Alysine demethylase 6A | Vaak (30–79%) | In 3 aandoeningen |
| KIAA0753KIAA0753 | Vaak (30–79%) | In 2 aandoeningen |
| KIDINS220kinase D interacting substrate 220 | Vaak (30–79%) | In 1 aandoening |
| KIF14kinesin family member 14 | Vaak (30–79%) | In 1 aandoening |
| KLHL20kelch like family member 20 | Vaak (30–79%) | In 1 aandoening |
| KMT2Alysine methyltransferase 2A | Vaak (30–79%) | In 1 aandoening |
| KMT2Dlysine methyltransferase 2D | Vaak (30–79%) | In 2 aandoeningen |
| KRASKRas proto-oncogene, GTPase | Vaak (30–79%) | In 6 aandoeningen |
| KRT10keratin 10 | Vaak (30–79%) | In 1 aandoening |
| L1CAML1 cell adhesion molecule | Vaak (30–79%) | In 3 aandoeningen |
| LAMA1laminin subunit alpha 1 | Vaak (30–79%) | In 2 aandoeningen |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Vaak (30–79%) | In 2 aandoeningen |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| LIMK1LIM domain kinase 1 | Vaak (30–79%) | In 1 aandoening |
| LMX1BLIM homeobox transcription factor 1 beta | Vaak (30–79%) | In 1 aandoening |
| LRIT3leucine rich repeat, Ig-like and transmembrane domains 3 | Vaak (30–79%) | In 1 aandoening |
| LRRC32leucine rich repeat containing 32 | Vaak (30–79%) | In 1 aandoening |
| LUZP1leucine zipper protein 1 | Vaak (30–79%) | In 1 aandoening |
| LZTR1leucine zipper like post translational regulator 1 | Vaak (30–79%) | In 2 aandoeningen |
| MAB21L2mab-21 like 2 | Vaak (30–79%) | In 1 aandoening |
| MACF1microtubule actin crosslinking factor 1 | Vaak (30–79%) | In 2 aandoeningen |
| MAGEL2MAGE family member L2 | Vaak (30–79%) | In 5 aandoeningen |
| MAN1B1mannosidase alpha class 1B member 1 | Vaak (30–79%) | In 1 aandoening |
| MAN2B1mannosidase alpha class 2B member 1 | Vaak (30–79%) | In 1 aandoening |
| MAP2K1mitogen-activated protein kinase kinase 1 | Vaak (30–79%) | In 2 aandoeningen |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Vaak (30–79%) | In 1 aandoening |
| MCM3APminichromosome maintenance complex component 3 associated protein | 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 1 aandoening |
| MDH2malate dehydrogenase 2 | Vaak (30–79%) | In 1 aandoening |
| MED12mediator complex subunit 12 | Vaak (30–79%) | In 3 aandoeningen |
| MED16mediator complex subunit 16 | Vaak (30–79%) | In 1 aandoening |
| MEGF8multiple EGF like domains 8 | Vaak (30–79%) | In 1 aandoening |
| METTL27methyltransferase like 27 | Vaak (30–79%) | In 1 aandoening |
| MID2midline 2 | Vaak (30–79%) | In 1 aandoening |
| MKS1MKS transition zone complex subunit 1 | Vaak (30–79%) | In 4 aandoeningen |
| MLXIPLMLX interacting protein like | Vaak (30–79%) | In 1 aandoening |
| MMP23Bmatrix metallopeptidase 23B | Vaak (30–79%) | In 1 aandoening |
| MRASmuscle RAS oncogene homolog | Vaak (30–79%) | In 1 aandoening |
| MRPL39mitochondrial ribosomal protein L39 | Vaak (30–79%) | In 1 aandoening |
| MRPS34mitochondrial ribosomal protein S34 | Vaak (30–79%) | In 1 aandoening |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Vaak (30–79%) | In 1 aandoening |
| MTRFRmitochondrial translation release factor in rescue | Vaak (30–79%) | In 3 aandoeningen |
| MYH3myosin heavy chain 3 | Vaak (30–79%) | In 3 aandoeningen |
| MYO1Hmyosin IH | Vaak (30–79%) | In 1 aandoening |
| NCAPG2non-SMC condensin II complex subunit G2 | Vaak (30–79%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Vaak (30–79%) | In 1 aandoening |
| NDNnecdin, MAGE family member | Vaak (30–79%) | In 3 aandoeningen |
| NFIXnuclear factor I X | Vaak (30–79%) | In 2 aandoeningen |
| NGLY1N-glycanase 1 | Vaak (30–79%) | In 1 aandoening |
| NHSNHS actin remodeling regulator | Vaak (30–79%) | In 1 aandoening |
| NONOnon-POU domain containing octamer binding | Vaak (30–79%) | In 2 aandoeningen |
| NOTCH1notch receptor 1 | Vaak (30–79%) | In 1 aandoening |
| NRASNRAS proto-oncogene, GTPase | Vaak (30–79%) | In 2 aandoeningen |
| NSD1nuclear receptor binding SET domain protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| NSD2nuclear receptor binding SET domain protein 2 | Vaak (30–79%) | In 2 aandoeningen |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Vaak (30–79%) | In 1 aandoening |
| OCA2OCA2 melanosomal transmembrane protein | Vaak (30–79%) | In 5 aandoeningen |
| OPHN1oligophrenin 1 | Vaak (30–79%) | In 2 aandoeningen |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Vaak (30–79%) | In 1 aandoening |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Vaak (30–79%) | In 2 aandoeningen |
| PDPNpodoplanin | Vaak (30–79%) | In 1 aandoening |
| PGAP2post-GPI attachment to proteins 2 | Vaak (30–79%) | In 1 aandoening |
| PHF21APHD finger protein 21A | Vaak (30–79%) | In 1 aandoening |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Vaak (30–79%) | In 2 aandoeningen |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Vaak (30–79%) | In 1 aandoening |
| PLK4polo like kinase 4 | Vaak (30–79%) | In 1 aandoening |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Vaak (30–79%) | In 2 aandoeningen |
| POGZpogo transposable element derived with ZNF domain | Vaak (30–79%) | In 2 aandoeningen |
| POLR1BRNA polymerase I subunit B | Vaak (30–79%) | In 1 aandoening |
| POLR1CRNA polymerase I and III subunit C | Vaak (30–79%) | In 1 aandoening |
| POLR1DRNA polymerase I and III subunit D | Vaak (30–79%) | In 1 aandoening |
| POLR2ARNA polymerase II subunit A | Vaak (30–79%) | In 1 aandoening |
| POU4F1POU class 4 homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Vaak (30–79%) | In 1 aandoening |
| PQBP1polyglutamine binding protein 1 | Vaak (30–79%) | In 3 aandoeningen |
| PRDM13PR/SET domain 13 | Vaak (30–79%) | In 1 aandoening |
| PRDM16PR/SET domain 16 | Vaak (30–79%) | In 1 aandoening |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Vaak (30–79%) | In 1 aandoening |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Vaak (30–79%) | In 1 aandoening |
| PRKCZprotein kinase C zeta | Vaak (30–79%) | In 1 aandoening |
| PRMT7protein arginine methyltransferase 7 | Vaak (30–79%) | In 2 aandoeningen |
| PROKR2prokineticin receptor 2 | Vaak (30–79%) | In 1 aandoening |
| PSMC3proteasome 26S subunit, ATPase 3 | Vaak (30–79%) | In 1 aandoening |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Vaak (30–79%) | In 1 aandoening |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Vaak (30–79%) | In 2 aandoeningen |
| RAB11BRAB11B, member RAS oncogene family | Vaak (30–79%) | In 1 aandoening |
| RAB23RAB23, member RAS oncogene family | Vaak (30–79%) | In 1 aandoening |
| RAB39BRAB39B, member RAS oncogene family | Vaak (30–79%) | In 1 aandoening |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Vaak (30–79%) | In 1 aandoening |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Vaak (30–79%) | In 1 aandoening |
| RASA2RAS p21 protein activator 2 | Vaak (30–79%) | In 1 aandoening |
| RBL2RB transcriptional corepressor like 2 | Vaak (30–79%) | In 1 aandoening |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Vaak (30–79%) | In 1 aandoening |
| RELREL proto-oncogene, NF-kB subunit | Vaak (30–79%) | In 1 aandoening |
| REREarginine-glutamic acid dipeptide repeats | Vaak (30–79%) | In 3 aandoeningen |
| RFC2replication factor C subunit 2 | Vaak (30–79%) | In 1 aandoening |
| RIC1RIC1 partner of RAB6A GEF complex | Vaak (30–79%) | In 1 aandoening |
| RIT1Ras like without CAAX 1 | 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 |
| ROBO1roundabout guidance receptor 1 | Vaak (30–79%) | In 2 aandoeningen |
| ROBO3roundabout guidance receptor 3 | Vaak (30–79%) | In 1 aandoening |
| RORARAR related orphan receptor A | Vaak (30–79%) | In 1 aandoening |
| RPGRIP1LRPGRIP1 like | Vaak (30–79%) | In 3 aandoeningen |
| RRASRAS related | Vaak (30–79%) | In 1 aandoening |
| RRAS2RAS related 2 | Vaak (30–79%) | In 2 aandoeningen |
| SCNM1sodium channel modifier 1 | Vaak (30–79%) | In 1 aandoening |
| SEMA3Esemaphorin 3E | Vaak (30–79%) | In 1 aandoening |
| SETXsenataxin | Vaak (30–79%) | In 2 aandoeningen |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Vaak (30–79%) | In 1 aandoening |
| SHMT2serine hydroxymethyltransferase 2 | Vaak (30–79%) | In 1 aandoening |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Vaak (30–79%) | In 1 aandoening |
| SHROOM4shroom family member 4 | Vaak (30–79%) | In 1 aandoening |
| SIM1SIM bHLH transcription factor 1 | Vaak (30–79%) | In 2 aandoeningen |
| SKISKI proto-oncogene | Vaak (30–79%) | In 3 aandoeningen |
| SKOR2SKI family transcriptional corepressor 2 | Vaak (30–79%) | In 1 aandoening |
| SLC38A8solute carrier family 38 member 8 | Vaak (30–79%) | In 1 aandoening |
| SLC44A1solute carrier family 44 member 1 | Vaak (30–79%) | In 1 aandoening |
| SLC6A19solute carrier family 6 member 19 | Vaak (30–79%) | In 1 aandoening |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Vaak (30–79%) | In 1 aandoening |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Vaak (30–79%) | In 1 aandoening |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Vaak (30–79%) | In 1 aandoening |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Vaak (30–79%) | In 1 aandoening |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Vaak (30–79%) | In 1 aandoening |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Vaak (30–79%) | In 4 aandoeningen |
| SONSON DNA and RNA binding protein | Vaak (30–79%) | In 2 aandoeningen |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Vaak (30–79%) | In 1 aandoening |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Vaak (30–79%) | In 1 aandoening |
| SOX11SRY-box transcription factor 11 | Vaak (30–79%) | In 1 aandoening |
| SOX3SRY-box transcription factor 3 | Vaak (30–79%) | In 1 aandoening |
| SOX4SRY-box transcription factor 4 | Vaak (30–79%) | In 1 aandoening |
| SOX5SRY-box transcription factor 5 | Vaak (30–79%) | In 2 aandoeningen |
| SPENspen family transcriptional repressor | Vaak (30–79%) | In 1 aandoening |
| SPRED2sprouty related EVH1 domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| SRCAPSnf2 related CREBBP activator protein | Vaak (30–79%) | In 3 aandoeningen |
| SREBF1sterol regulatory element binding transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| STX1Asyntaxin 1A | Vaak (30–79%) | In 1 aandoening |
| STXBP1syntaxin binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Vaak (30–79%) | In 1 aandoening |
| SYT1synaptotagmin 1 | Vaak (30–79%) | In 2 aandoeningen |
| TAF1TATA-box binding protein associated factor 1 | Vaak (30–79%) | In 2 aandoeningen |
| TBC1D23TBC1 domain family member 23 | Vaak (30–79%) | In 1 aandoening |
| TBC1D7TBC1 domain family member 7 | Vaak (30–79%) | In 1 aandoening |
| TBCKTBC1 domain containing kinase | Vaak (30–79%) | In 2 aandoeningen |
| TBL1XR1TBL1X/Y related 1 | Vaak (30–79%) | In 2 aandoeningen |
| TBL2transducin beta like 2 | Vaak (30–79%) | In 1 aandoening |
| TBX15T-box transcription factor 15 | Vaak (30–79%) | In 1 aandoening |
| TCEAL1transcription elongation factor A like 1 | Vaak (30–79%) | In 1 aandoening |
| TCF4transcription factor 4 | Vaak (30–79%) | In 2 aandoeningen |
| TCOF1treacle ribosome biogenesis factor 1 | Vaak (30–79%) | In 2 aandoeningen |
| TEFMtranscription elongation factor, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| TFE3transcription factor binding to IGHM enhancer 3 | Vaak (30–79%) | In 1 aandoening |
| THG1LtRNA-histidine guanylyltransferase 1 like | Vaak (30–79%) | In 1 aandoening |
| TLK2tousled like kinase 2 | Vaak (30–79%) | In 1 aandoening |
| TM2D3TM2 domain containing 3 | Vaak (30–79%) | In 1 aandoening |
| TMCO1transmembrane and coiled-coil domains 1 | Vaak (30–79%) | In 2 aandoeningen |
| TMEM237transmembrane protein 237 | Vaak (30–79%) | In 4 aandoeningen |
| TMEM270transmembrane protein 270 | Vaak (30–79%) | In 1 aandoening |
| TNPO2transportin 2 | Vaak (30–79%) | In 1 aandoening |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Vaak (30–79%) | In 1 aandoening |
| TRIM44TRIM family member 44 | Vaak (30–79%) | In 1 aandoening |
| TRPM1transient receptor potential cation channel subfamily M member 1 | Vaak (30–79%) | In 1 aandoening |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Vaak (30–79%) | In 1 aandoening |
| TTI1TELO2 interacting protein 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 1 aandoening |
| TWIST1twist family bHLH transcription factor 1 | Vaak (30–79%) | In 3 aandoeningen |
| UBE3Aubiquitin protein ligase E3A | Vaak (30–79%) | In 3 aandoeningen |
| UBE3Bubiquitin protein ligase E3B | Vaak (30–79%) | In 2 aandoeningen |
| UBE4Bubiquitination factor E4B | Vaak (30–79%) | In 1 aandoening |
| VPS37DVPS37D subunit of ESCRT-I | Vaak (30–79%) | In 1 aandoening |
| WACWW domain containing adaptor with coiled-coil | Vaak (30–79%) | In 3 aandoeningen |
| WASHC4WASH complex subunit 4 | Vaak (30–79%) | In 1 aandoening |
| WBP4WW domain binding protein 4 | Vaak (30–79%) | In 1 aandoening |
| WDR26WD repeat domain 26 | Vaak (30–79%) | In 2 aandoeningen |
| WDR35WD repeat domain 35 | Vaak (30–79%) | In 1 aandoening |
| WDR81WD repeat domain 81 | Vaak (30–79%) | In 2 aandoeningen |
| WT1WT1 transcription factor | Vaak (30–79%) | In 1 aandoening |
| XPAXPA, DNA damage recognition and repair factor | Vaak (30–79%) | In 1 aandoening |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Vaak (30–79%) | In 1 aandoening |
| XPO1exportin 1 | Vaak (30–79%) | In 1 aandoening |
| YME1L1YME1 like 1 ATPase | Vaak (30–79%) | In 1 aandoening |
| YY1YY1 transcription factor | Vaak (30–79%) | In 2 aandoeningen |
| ZBTB20zinc finger and BTB domain containing 20 | Vaak (30–79%) | In 1 aandoening |
| ZEB2zinc finger E-box binding homeobox 2 | Vaak (30–79%) | In 3 aandoeningen |
| ZIC1Zic family zinc finger 1 | Vaak (30–79%) | In 2 aandoeningen |
| AARS1alanyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| AASSaminoadipate-semialdehyde synthase | Soms (5–29%) | In 1 aandoening |
| ABCD1ATP binding cassette subfamily D member 1 | Soms (5–29%) | In 1 aandoening |
| ACSL4acyl-CoA synthetase long chain family member 4 | Soms (5–29%) | In 1 aandoening |
| ADGRG1adhesion G protein-coupled receptor G1 | Soms (5–29%) | In 1 aandoening |
| ADNPactivity dependent neuroprotector homeobox | Soms (5–29%) | In 2 aandoeningen |
| ADPRSADP-ribosylserine hydrolase | Soms (5–29%) | In 1 aandoening |
| AEBP1AE binding protein 1 | Soms (5–29%) | In 1 aandoening |
| AFF4ALF transcription elongation factor 4 | Soms (5–29%) | In 1 aandoening |
| AFG2AAAA ATPase AFG2A | Soms (5–29%) | In 1 aandoening |
| AGO1argonaute RISC component 1 | Soms (5–29%) | In 1 aandoening |
| AHI1Abelson helper integration site 1 | Soms (5–29%) | In 2 aandoeningen |
| AKT1AKT serine/threonine kinase 1 | Soms (5–29%) | In 1 aandoening |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Soms (5–29%) | In 3 aandoeningen |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Soms (5–29%) | In 2 aandoeningen |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Soms (5–29%) | In 1 aandoening |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Soms (5–29%) | In 2 aandoeningen |
| AMPD2adenosine monophosphate deaminase 2 | Soms (5–29%) | In 1 aandoening |
| ANKRD17ankyrin repeat domain 17 | Soms (5–29%) | In 1 aandoening |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Soms (5–29%) | In 1 aandoening |
| ARCN1archain 1 coat protein complex I subunit delta | Soms (5–29%) | In 1 aandoening |
| ARL13BARF like GTPase 13B | Soms (5–29%) | In 1 aandoening |
| ARL3ARF like GTPase 3 | Soms (5–29%) | In 1 aandoening |
| ARL6ARF like GTPase 6 | Soms (5–29%) | In 2 aandoeningen |
| ARMC9armadillo repeat containing 9 | Soms (5–29%) | In 1 aandoening |
| ARVCFARVCF delta catenin family member | Soms (5–29%) | In 1 aandoening |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Soms (5–29%) | In 1 aandoening |
| ATOH7atonal bHLH transcription factor 7 | Soms (5–29%) | In 1 aandoening |
| ATP5F1AATP synthase F1 subunit alpha | Soms (5–29%) | In 1 aandoening |
| ATP5F1DATP synthase F1 subunit delta | Soms (5–29%) | In 1 aandoening |
| ATP5F1EATP synthase F1 subunit epsilon | Soms (5–29%) | In 1 aandoening |
| ATP5MKATP synthase membrane subunit k | Soms (5–29%) | In 1 aandoening |
| ATP5POATP synthase peripheral stalk subunit OSCP | Soms (5–29%) | In 1 aandoening |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Soms (5–29%) | In 1 aandoening |
| B9D1B9 domain containing 1 | Soms (5–29%) | In 1 aandoening |
| B9D2B9 domain containing 2 | Soms (5–29%) | In 1 aandoening |
| BAP1BRCA1 associated deubiquitinase 1 | Soms (5–29%) | In 1 aandoening |
| BBIP1BBSome interacting protein 1 | Soms (5–29%) | In 1 aandoening |
| BBS1Bardet-Biedl syndrome 1 | Soms (5–29%) | In 2 aandoeningen |
| BBS10Bardet-Biedl syndrome 10 | Soms (5–29%) | In 1 aandoening |
| BBS12Bardet-Biedl syndrome 12 | Soms (5–29%) | In 1 aandoening |
| BBS2Bardet-Biedl syndrome 2 | Soms (5–29%) | In 1 aandoening |
| BBS4Bardet-Biedl syndrome 4 | Soms (5–29%) | In 1 aandoening |
| BBS5Bardet-Biedl syndrome 5 | Soms (5–29%) | In 1 aandoening |
| BBS7Bardet-Biedl syndrome 7 | Soms (5–29%) | In 1 aandoening |
| BCORL1BCL6 corepressor like 1 | Soms (5–29%) | In 1 aandoening |
| BRCA1BRCA1 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRCA2BRCA2 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRF1BRF1 general transcription factor IIIB subunit | Soms (5–29%) | In 2 aandoeningen |
| BRIP1BRCA1 interacting DNA helicase 1 | Soms (5–29%) | In 1 aandoening |
| CABP4calcium binding protein 4 | Soms (5–29%) | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Soms (5–29%) | In 1 aandoening |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Soms (5–29%) | In 1 aandoening |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Soms (5–29%) | In 1 aandoening |
| CAPRIN1cell cycle associated protein 1 | Soms (5–29%) | In 1 aandoening |
| CARS1cysteinyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| CBScystathionine beta-synthase | Soms (5–29%) | In 1 aandoening |
| CBY1chibby 1, beta catenin antagonist | Soms (5–29%) | In 1 aandoening |
| CDC42cell division cycle 42 | Soms (5–29%) | In 1 aandoening |
| CDC42BPBCDC42 binding protein kinase beta | Soms (5–29%) | In 1 aandoening |
| CDC45cell division cycle 45 | Soms (5–29%) | In 1 aandoening |
| CDH3cadherin 3 | Soms (5–29%) | In 1 aandoening |
| CDK10cyclin dependent kinase 10 | Soms (5–29%) | In 1 aandoening |
| CDONcell adhesion associated, oncogene regulated | Soms (5–29%) | In 1 aandoening |
| CEP104centrosomal protein 104 | Soms (5–29%) | In 1 aandoening |
| CEP120centrosomal protein 120 | Soms (5–29%) | In 3 aandoeningen |
| CEP152centrosomal protein 152 | Soms (5–29%) | In 1 aandoening |
| CEP19centrosomal protein 19 | Soms (5–29%) | In 1 aandoening |
| CEP290centrosomal protein 290 | Soms (5–29%) | In 2 aandoeningen |
| CEP41centrosomal protein 41 | Soms (5–29%) | In 2 aandoeningen |
| CEP83centrosomal protein 83 | Soms (5–29%) | In 1 aandoening |
| CFAP418cilia and flagella associated protein 418 | Soms (5–29%) | In 1 aandoening |
| CHD6chromodomain helicase DNA binding protein 6 | Soms (5–29%) | In 1 aandoening |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Soms (5–29%) | In 2 aandoeningen |
| CHRNGcholinergic receptor nicotinic gamma subunit | Soms (5–29%) | In 1 aandoening |
| CLCN4Cl-/H+ antiporter 4 | Soms (5–29%) | In 2 aandoeningen |
| CLDN16claudin 16 | Soms (5–29%) | In 1 aandoening |
| CNOT3CCR4-NOT transcription complex subunit 3 | Soms (5–29%) | In 1 aandoening |
| COG5component of oligomeric golgi complex 5 | Soms (5–29%) | In 1 aandoening |
| COL11A1collagen type XI alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COL18A1collagen type XVIII alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COMTcatechol-O-methyltransferase | Soms (5–29%) | In 1 aandoening |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| CRIPTOcripto, EGF-CFC family member | Soms (5–29%) | In 1 aandoening |
| CSPP1centrosome and spindle pole associated protein 1 | Soms (5–29%) | In 2 aandoeningen |
| CTNNB1catenin beta 1 | Soms (5–29%) | In 2 aandoeningen |
| DACT1dishevelled binding antagonist of beta catenin 1 | Soms (5–29%) | In 1 aandoening |
| DBR1debranching RNA lariats 1 | Soms (5–29%) | In 1 aandoening |
| DGUOKdeoxyguanosine kinase | Soms (5–29%) | In 1 aandoening |
| DHCR77-dehydrocholesterol reductase | Soms (5–29%) | In 2 aandoeningen |
| DHODHdihydroorotate dehydrogenase (quinone) | Soms (5–29%) | In 1 aandoening |
| DHX37DEAH-box helicase 37 | Soms (5–29%) | In 1 aandoening |
| DISP1dispatched RND transporter family member 1 | Soms (5–29%) | In 1 aandoening |
| DLATdihydrolipoamide S-acetyltransferase | Soms (5–29%) | In 1 aandoening |
| DLL1delta like canonical Notch ligand 1 | Soms (5–29%) | In 1 aandoening |
| DNM1Ldynamin 1L | Soms (5–29%) | In 1 aandoening |
| DOLKdolichol kinase | Soms (5–29%) | In 1 aandoening |
| DOT1LDOT1 like histone lysine methyltransferase | Soms (5–29%) | In 1 aandoening |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Soms (5–29%) | In 1 aandoening |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Soms (5–29%) | In 2 aandoeningen |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Soms (5–29%) | In 2 aandoeningen |
| DPYDdihydropyrimidine dehydrogenase | Soms (5–29%) | In 1 aandoening |
| DVL1dishevelled segment polarity protein 1 | Soms (5–29%) | In 1 aandoening |
| DVL3dishevelled segment polarity protein 3 | Soms (5–29%) | In 1 aandoening |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Soms (5–29%) | In 2 aandoeningen |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Soms (5–29%) | In 1 aandoening |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Soms (5–29%) | In 1 aandoening |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Soms (5–29%) | In 1 aandoening |
| EIF3Feukaryotic translation initiation factor 3 subunit F | Soms (5–29%) | In 1 aandoening |
| ELOVL4ELOVL fatty acid elongase 4 | Soms (5–29%) | In 1 aandoening |
| EMC1ER membrane protein complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Soms (5–29%) | In 1 aandoening |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Soms (5–29%) | In 4 aandoeningen |
| EXOSC3exosome component 3 | Soms (5–29%) | In 2 aandoeningen |
| EXOSC8exosome component 8 | Soms (5–29%) | In 1 aandoening |
| EXOSC9exosome component 9 | Soms (5–29%) | In 1 aandoening |
| FA2Hfatty acid 2-hydroxylase | Soms (5–29%) | In 2 aandoeningen |
| FAAP100FA core complex associated protein 100 | Soms (5–29%) | In 1 aandoening |
| FAM50Afamily with sequence similarity 50 member A | Soms (5–29%) | In 1 aandoening |
| FANCAFA complementation group A | Soms (5–29%) | In 2 aandoeningen |
| FANCBFA complementation group B | Soms (5–29%) | In 1 aandoening |
| FANCCFA complementation group C | Soms (5–29%) | In 2 aandoeningen |
| FANCD2FA complementation group D2 | Soms (5–29%) | In 2 aandoeningen |
| FANCEFA complementation group E | Soms (5–29%) | In 2 aandoeningen |
| FANCFFA complementation group F | Soms (5–29%) | In 1 aandoening |
| FANCGFA complementation group G | Soms (5–29%) | In 1 aandoening |
| FANCIFA complementation group I | Soms (5–29%) | In 1 aandoening |
| FANCLFA complementation group L | Soms (5–29%) | In 1 aandoening |
| FANCMFA complementation group M | Soms (5–29%) | In 1 aandoening |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| FBLN5fibulin 5 | Soms (5–29%) | In 1 aandoening |
| FBXL3F-box and leucine rich repeat protein 3 | Soms (5–29%) | In 1 aandoening |
| FBXL4F-box and leucine rich repeat protein 4 | Soms (5–29%) | In 1 aandoening |
| FBXO22F-box protein 22 | Soms (5–29%) | In 1 aandoening |
| FBXW11F-box and WD repeat domain containing 11 | Soms (5–29%) | In 1 aandoening |
| FBXW7F-box and WD repeat domain containing 7 | Soms (5–29%) | In 1 aandoening |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Soms (5–29%) | In 2 aandoeningen |
| FGF14fibroblast growth factor 14 | Soms (5–29%) | In 2 aandoeningen |
| FGF3fibroblast growth factor 3 | Soms (5–29%) | In 1 aandoening |
| FGF8fibroblast growth factor 8 | Soms (5–29%) | In 1 aandoening |
| FIBPFGF1 intracellular binding protein | Soms (5–29%) | In 2 aandoeningen |
| FIG4FIG4 phosphoinositide 5-phosphatase | Soms (5–29%) | In 1 aandoening |
| FLNAfilamin A | Soms (5–29%) | In 2 aandoeningen |
| FMR1fragile X messenger ribonucleoprotein 1 | Soms (5–29%) | In 1 aandoening |
| FOXH1forkhead box H1 | Soms (5–29%) | In 1 aandoening |
| FOXL2forkhead box L2 | Soms (5–29%) | In 2 aandoeningen |
| FRMD5FERM domain containing 5 | Soms (5–29%) | In 1 aandoening |
| FZD2frizzled class receptor 2 | Soms (5–29%) | In 1 aandoening |
| FZD4frizzled class receptor 4 | Soms (5–29%) | In 2 aandoeningen |
| FZD5frizzled class receptor 5 | Soms (5–29%) | In 1 aandoening |
| GAS1growth arrest specific 1 | Soms (5–29%) | In 1 aandoening |
| GATA4GATA binding protein 4 | Soms (5–29%) | In 1 aandoening |
| GDF5growth differentiation factor 5 | Soms (5–29%) | In 1 aandoening |
| GGT1gamma-glutamyltransferase 1 | Soms (5–29%) | In 2 aandoeningen |
| GJA1gap junction protein alpha 1 | Soms (5–29%) | In 1 aandoening |
| GJA5gap junction protein alpha 5 | Soms (5–29%) | In 1 aandoening |
| GJA8gap junction protein alpha 8 | Soms (5–29%) | In 1 aandoening |
| GLI2GLI family zinc finger 2 | Soms (5–29%) | In 1 aandoening |
| GMPPAGDP-mannose pyrophosphorylase A | Soms (5–29%) | In 1 aandoening |
| GNASGNAS complex locus | Soms (5–29%) | In 1 aandoening |
| GP1BBglycoprotein Ib platelet subunit beta | Soms (5–29%) | In 1 aandoening |
| GPC4glypican 4 | Soms (5–29%) | In 1 aandoening |
| GPR179G protein-coupled receptor 179 | Soms (5–29%) | In 1 aandoening |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Soms (5–29%) | In 1 aandoening |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Soms (5–29%) | In 1 aandoening |
| GTF2E2general transcription factor IIE subunit 2 | Soms (5–29%) | In 1 aandoening |
| GTF2H5general transcription factor IIH subunit 5 | Soms (5–29%) | In 1 aandoening |
| H1-4H1.4 linker histone, cluster member | Soms (5–29%) | In 1 aandoening |
| H3-3AH3.3 histone A | Soms (5–29%) | In 1 aandoening |
| H4C5H4 clustered histone 5 | Soms (5–29%) | In 1 aandoening |
| HDAC8histone deacetylase 8 | Soms (5–29%) | In 1 aandoening |
| HID1HID1 domain containing | Soms (5–29%) | In 1 aandoening |
| HIRAhistone cell cycle regulator | Soms (5–29%) | In 1 aandoening |
| HK1hexokinase 1 | Soms (5–29%) | In 1 aandoening |
| HOXA13homeobox A13 | Soms (5–29%) | In 1 aandoening |
| HPS5HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 | Soms (5–29%) | In 1 aandoening |
| HPS6HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 | Soms (5–29%) | In 1 aandoening |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Soms (5–29%) | In 1 aandoening |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| IFT172intraflagellar transport 172 | Soms (5–29%) | In 1 aandoening |
| IFT27intraflagellar transport 27 | Soms (5–29%) | In 1 aandoening |
| IFT54intraflagellar transport 54 | Soms (5–29%) | In 1 aandoening |
| IFT74intraflagellar transport 74 | Soms (5–29%) | In 2 aandoeningen |
| INTS1integrator complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Soms (5–29%) | In 2 aandoeningen |
| JMJD1Cjumonji domain containing 1C | Soms (5–29%) | In 1 aandoening |
| KATNIPkatanin interacting protein | Soms (5–29%) | In 1 aandoening |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Soms (5–29%) | In 1 aandoening |
| KCNV2potassium voltage-gated channel modifier subfamily V member 2 | Soms (5–29%) | In 1 aandoening |
| KDM5Alysine demethylase 5A | Soms (5–29%) | In 1 aandoening |
| KDM6Blysine demethylase 6B | Soms (5–29%) | In 1 aandoening |
| KIAA0586KIAA0586 | Soms (5–29%) | In 1 aandoening |
| KIF15kinesin family member 15 | Soms (5–29%) | In 1 aandoening |
| KIF22kinesin family member 22 | Soms (5–29%) | In 1 aandoening |
| KIF7kinesin family member 7 | Soms (5–29%) | In 1 aandoening |
| KLF13KLF transcription factor 13 | Soms (5–29%) | In 1 aandoening |
| KMT2Blysine methyltransferase 2B | Soms (5–29%) | In 3 aandoeningen |
| KRT25keratin 25 | Soms (5–29%) | In 1 aandoening |
| KRT71keratin 71 | Soms (5–29%) | In 1 aandoening |
| KRT74keratin 74 | Soms (5–29%) | In 1 aandoening |
| LAMB2laminin subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| LIPHlipase H | Soms (5–29%) | In 1 aandoening |
| LONP1lon peptidase 1, mitochondrial | Soms (5–29%) | In 1 aandoening |
| LPAR6lysophosphatidic acid receptor 6 | Soms (5–29%) | In 1 aandoening |
| LRP5LDL receptor related protein 5 | Soms (5–29%) | In 1 aandoening |
| LYSTlysosomal trafficking regulator | Soms (5–29%) | In 2 aandoeningen |
| LZTFL1leucine zipper transcription factor like 1 | Soms (5–29%) | In 1 aandoening |
| MAD2L2mitotic arrest deficient 2 like 2 | Soms (5–29%) | In 1 aandoening |
| MADDMAP kinase activating death domain | Soms (5–29%) | In 1 aandoening |
| MAPRE2microtubule associated protein RP/EB family member 2 | Soms (5–29%) | In 1 aandoening |
| MARK2microtubule affinity regulating kinase 2 | Soms (5–29%) | In 1 aandoening |
| MAU2MAU2 sister chromatid cohesion factor | Soms (5–29%) | In 2 aandoeningen |
| MED11mediator complex subunit 11 | Soms (5–29%) | In 1 aandoening |
| MED12Lmediator complex subunit 12L | Soms (5–29%) | In 1 aandoening |
| MED25mediator complex subunit 25 | Soms (5–29%) | In 2 aandoeningen |
| MEF2Cmyocyte enhancer factor 2C | Soms (5–29%) | In 1 aandoening |
| MKKSMKKS centrosomal shuttling protein | Soms (5–29%) | In 1 aandoening |
| MPLKIPM-phase specific PLK1 interacting protein | Soms (5–29%) | In 1 aandoening |
| MSL2MSL complex subunit 2 | Soms (5–29%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Soms (5–29%) | In 1 aandoening |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Soms (5–29%) | In 1 aandoening |
| MTORmechanistic target of rapamycin kinase | Soms (5–29%) | In 2 aandoeningen |
| MYO5Amyosin VA | Soms (5–29%) | In 1 aandoening |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NANSN-acetylneuraminate synthase | Soms (5–29%) | In 1 aandoening |
| NAV3neuron navigator 3 | Soms (5–29%) | In 1 aandoening |
| NAXENAD(P)HX epimerase | Soms (5–29%) | In 2 aandoeningen |
| NBASNBAS subunit of NRZ tethering complex | Soms (5–29%) | In 1 aandoening |
| NDST1N-deacetylase and N-sulfotransferase 1 | Soms (5–29%) | In 1 aandoening |
| NELFAnegative elongation factor complex member A | Soms (5–29%) | In 1 aandoening |
| NEU1neuraminidase 1 | Soms (5–29%) | In 2 aandoeningen |
| NF1neurofibromin 1 | Soms (5–29%) | In 1 aandoening |
| NFU1NFU1 iron-sulfur cluster scaffold | Soms (5–29%) | In 1 aandoening |
| NIPBLNIPBL cohesin loading factor | Soms (5–29%) | In 2 aandoeningen |
| NKX6-2NK6 homeobox 2 | Soms (5–29%) | In 1 aandoening |
| NODALnodal growth differentiation factor | Soms (5–29%) | In 1 aandoening |
| NOGnoggin | Soms (5–29%) | In 2 aandoeningen |
| NOTCH3notch receptor 3 | Soms (5–29%) | In 1 aandoening |
| NPHP1nephrocystin 1 | Soms (5–29%) | In 2 aandoeningen |
| NRCAMneuronal cell adhesion molecule | Soms (5–29%) | In 1 aandoening |
| NT5C25'-nucleotidase, cytosolic II | Soms (5–29%) | In 1 aandoening |
| NXNnucleoredoxin | Soms (5–29%) | In 1 aandoening |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Soms (5–29%) | In 1 aandoening |
| OFD1OFD1 centriole and centriolar satellite protein | Soms (5–29%) | In 1 aandoening |
| OPA1OPA1 mitochondrial dynamin like GTPase | Soms (5–29%) | In 2 aandoeningen |
| OPLAH5-oxoprolinase, ATP-hydrolysing | Soms (5–29%) | In 1 aandoening |
| OTUD5OTU deubiquitinase 5 | Soms (5–29%) | In 1 aandoening |
| PACS2phosphofurin acidic cluster sorting protein 2 | Soms (5–29%) | In 1 aandoening |
| PAK2p21 (RAC1) activated kinase 2 | Soms (5–29%) | In 1 aandoening |
| PALB2partner and localizer of BRCA2 | Soms (5–29%) | In 1 aandoening |
| PAX2paired box 2 | Soms (5–29%) | In 2 aandoeningen |
| PAX3paired box 3 | Soms (5–29%) | In 1 aandoening |
| PCDHGC4protocadherin gamma subfamily C, 4 | Soms (5–29%) | In 1 aandoening |
| PDE6Dphosphodiesterase 6D | Soms (5–29%) | In 1 aandoening |
| PIBF1progesterone immunomodulatory binding factor 1 | Soms (5–29%) | In 1 aandoening |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Soms (5–29%) | In 1 aandoening |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Soms (5–29%) | In 1 aandoening |
| PLA2G6phospholipase A2 group VI | Soms (5–29%) | In 1 aandoening |
| PLXNA1plexin A1 | Soms (5–29%) | In 1 aandoening |
| PNPLA6patatin like domain 6, lysophospholipase | Soms (5–29%) | In 1 aandoening |
| POLR1ARNA polymerase I subunit A | Soms (5–29%) | In 1 aandoening |
| POLRMTRNA polymerase mitochondrial | Soms (5–29%) | In 1 aandoening |
| POMKprotein O-mannose kinase | Soms (5–29%) | In 1 aandoening |
| PORCNporcupine O-acyltransferase | Soms (5–29%) | In 2 aandoeningen |
| POU3F4POU class 3 homeobox 4 | Soms (5–29%) | In 1 aandoening |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Soms (5–29%) | In 1 aandoening |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Soms (5–29%) | In 1 aandoening |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Soms (5–29%) | In 2 aandoeningen |
| PTCH2patched 2 | Soms (5–29%) | In 1 aandoening |
| PUF60poly(U) binding splicing factor 60 | Soms (5–29%) | In 2 aandoeningen |
| PURApurine rich element binding protein A | Soms (5–29%) | In 1 aandoening |
| RAD21RAD21 cohesin complex component | Soms (5–29%) | In 1 aandoening |
| RAD51RAD51 recombinase | Soms (5–29%) | In 1 aandoening |
| RAD51CRAD51 paralog C | Soms (5–29%) | In 1 aandoening |
| RBM8ARNA binding motif protein 8A | Soms (5–29%) | In 1 aandoening |
| RFWD3ring finger and WD repeat domain 3 | Soms (5–29%) | In 1 aandoening |
| RHOAras homolog family member A | Soms (5–29%) | In 1 aandoening |
| RNF113Aring finger protein 113A | Soms (5–29%) | In 1 aandoening |
| RNF135ring finger protein 135 | Soms (5–29%) | In 1 aandoening |
| RNU2-2RNA, U2 small nuclear 2 | Soms (5–29%) | In 1 aandoening |
| ROR2ROR family WNT receptor 2 | Soms (5–29%) | In 2 aandoeningen |
| RPS6KA3ribosomal protein S6 kinase A3 | Soms (5–29%) | In 1 aandoening |
| RREB1ras responsive element binding protein 1 | Soms (5–29%) | In 1 aandoening |
| RS1retinoschisin 1 | Soms (5–29%) | In 1 aandoening |
| RSPRY1ring finger and SPRY domain containing 1 | Soms (5–29%) | In 2 aandoeningen |
| SALL1spalt like transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| SAMD9Lsterile alpha motif domain containing 9 like | Soms (5–29%) | In 1 aandoening |
| SARDHsarcosine dehydrogenase | Soms (5–29%) | In 1 aandoening |
| SATB2SATB homeobox 2 | Soms (5–29%) | In 2 aandoeningen |
| SBF1SET binding factor 1 | Soms (5–29%) | In 1 aandoening |
| SCAPERS-phase cyclin A associated protein in the ER | Soms (5–29%) | In 1 aandoening |
| SCLT1sodium channel and clathrin linker 1 | Soms (5–29%) | In 1 aandoening |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Soms (5–29%) | In 1 aandoening |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Soms (5–29%) | In 1 aandoening |
| SEC24CSEC24 homolog C, COPII component | Soms (5–29%) | In 1 aandoening |
| SETSET nuclear proto-oncogene | Soms (5–29%) | In 1 aandoening |
| SETBP1SET binding protein 1 | Soms (5–29%) | In 1 aandoening |
| SETD5SET domain containing 5 | Soms (5–29%) | In 1 aandoening |
| SF3B2splicing factor 3b subunit 2 | Soms (5–29%) | In 1 aandoening |
| SGSM3small G protein signaling modulator 3 | Soms (5–29%) | In 1 aandoening |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Soms (5–29%) | In 1 aandoening |
| SHHsonic hedgehog signaling molecule | Soms (5–29%) | In 1 aandoening |
| SIAH1siah E3 ubiquitin protein ligase 1 | Soms (5–29%) | In 1 aandoening |
| SIX3SIX homeobox 3 | Soms (5–29%) | In 1 aandoening |
| SLC12A6solute carrier family 12 member 6 | Soms (5–29%) | In 1 aandoening |
| SLC25A46solute carrier family 25 member 46 | Soms (5–29%) | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Soms (5–29%) | In 1 aandoening |
| SLC2A10solute carrier family 2 member 10 | Soms (5–29%) | In 1 aandoening |
| SLC35A2solute carrier family 35 member A2 | Soms (5–29%) | In 1 aandoening |
| SLC9A7solute carrier family 9 member A7 | Soms (5–29%) | In 1 aandoening |
| SLX4SLX4 structure-specific endonuclease subunit | Soms (5–29%) | In 1 aandoening |
| SMAD4SMAD family member 4 | Soms (5–29%) | In 1 aandoening |
| SMC1Astructural maintenance of chromosomes 1A | Soms (5–29%) | In 1 aandoening |
| SMC3structural maintenance of chromosomes 3 | Soms (5–29%) | In 1 aandoening |
| SMG8SMG8 nonsense mediated mRNA decay factor | Soms (5–29%) | In 1 aandoening |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Soms (5–29%) | In 1 aandoening |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Soms (5–29%) | In 1 aandoening |
| SPOPspeckle type BTB/POZ protein | Soms (5–29%) | In 1 aandoening |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Soms (5–29%) | In 1 aandoening |
| SRPK3SRSF protein kinase 3 | Soms (5–29%) | In 1 aandoening |
| SRRM2serine/arginine repetitive matrix 2 | Soms (5–29%) | In 1 aandoening |
| STAG1STAG1 cohesin complex component | Soms (5–29%) | In 1 aandoening |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Soms (5–29%) | In 1 aandoening |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Soms (5–29%) | In 1 aandoening |
| SUFUSUFU negative regulator of hedgehog signaling | Soms (5–29%) | In 3 aandoeningen |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Soms (5–29%) | In 1 aandoening |
| TAOK1TAO kinase 1 | Soms (5–29%) | In 1 aandoening |
| TARS1threonyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| TASP1taspase 1 | Soms (5–29%) | In 1 aandoening |
| TBC1D32TBC1 domain family member 32 | Soms (5–29%) | In 2 aandoeningen |
| TBCDtubulin folding cofactor D | 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 |
| TCF12transcription factor 12 | Soms (5–29%) | In 1 aandoening |
| TCTN1tectonic family member 1 | Soms (5–29%) | In 1 aandoening |
| TCTN2tectonic family member 2 | Soms (5–29%) | In 1 aandoening |
| TCTN3tectonic family member 3 | Soms (5–29%) | In 1 aandoening |
| TET3tet methylcytosine dioxygenase 3 | Soms (5–29%) | In 1 aandoening |
| TFAP2Atranscription factor AP-2 alpha | Soms (5–29%) | In 2 aandoeningen |
| TFAP2Btranscription factor AP-2 beta | Soms (5–29%) | In 2 aandoeningen |
| TGIF1TGFB induced factor homeobox 1 | Soms (5–29%) | In 1 aandoening |
| THOC2THO complex subunit 2 | Soms (5–29%) | In 2 aandoeningen |
| TKTtransketolase | Soms (5–29%) | In 1 aandoening |
| TMEM126Atransmembrane protein 126A | Soms (5–29%) | In 1 aandoening |
| TMEM138transmembrane protein 138 | Soms (5–29%) | In 1 aandoening |
| TMEM218transmembrane protein 218 | Soms (5–29%) | In 1 aandoening |
| TMEM222transmembrane protein 222 | Soms (5–29%) | In 1 aandoening |
| TMEM231transmembrane protein 231 | Soms (5–29%) | In 1 aandoening |
| TMEM240transmembrane protein 240 | Soms (5–29%) | In 1 aandoening |
| TMEM53transmembrane protein 53 | Soms (5–29%) | In 1 aandoening |
| TMEM63Ctransmembrane protein 63C | Soms (5–29%) | In 1 aandoening |
| TMEM67transmembrane protein 67 | Soms (5–29%) | In 3 aandoeningen |
| TMEM94transmembrane protein 94 | Soms (5–29%) | In 1 aandoening |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Soms (5–29%) | In 1 aandoening |
| TRAF7TNF receptor associated factor 7 | Soms (5–29%) | In 1 aandoening |
| TRAPPC11trafficking protein particle complex subunit 11 | Soms (5–29%) | In 2 aandoeningen |
| TRIM32tripartite motif containing 32 | Soms (5–29%) | In 1 aandoening |
| TRIM37tripartite motif containing 37 | Soms (5–29%) | In 1 aandoening |
| TRIOtrio Rho guanine nucleotide exchange factor | Soms (5–29%) | In 1 aandoening |
| TRIP11thyroid hormone receptor interactor 11 | Soms (5–29%) | In 1 aandoening |
| TSEN15tRNA splicing endonuclease subunit 15 | Soms (5–29%) | In 1 aandoening |
| TTC8tetratricopeptide repeat domain 8 | Soms (5–29%) | In 1 aandoening |
| TTI2TELO2 interacting protein 2 | Soms (5–29%) | In 2 aandoeningen |
| TWIST2twist family bHLH transcription factor 2 | Soms (5–29%) | In 1 aandoening |
| TYRP1tyrosinase related protein 1 | Soms (5–29%) | In 2 aandoeningen |
| UBE2Aubiquitin conjugating enzyme E2 A | Soms (5–29%) | In 1 aandoening |
| UBE2Tubiquitin conjugating enzyme E2 T | Soms (5–29%) | In 1 aandoening |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Soms (5–29%) | In 1 aandoening |
| USP7ubiquitin specific peptidase 7 | Soms (5–29%) | In 2 aandoeningen |
| USP9Xubiquitin specific peptidase 9 X-linked | Soms (5–29%) | In 2 aandoeningen |
| VPS13Bvacuolar protein sorting 13 homolog B | Soms (5–29%) | In 1 aandoening |
| VRK1VRK serine/threonine kinase 1 | 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 |
| WDR83OSWD repeat domain 83 opposite strand | Soms (5–29%) | In 1 aandoening |
| WNT5AWnt family member 5A | Soms (5–29%) | In 1 aandoening |
| XRCC2X-ray repair cross complementing 2 | Soms (5–29%) | In 1 aandoening |
| YAP1Yes1 associated transcriptional regulator | Soms (5–29%) | In 1 aandoening |
| ZC4H2zinc finger C4H2-type containing | Soms (5–29%) | In 1 aandoening |
| ZFXzinc finger protein X-linked | Soms (5–29%) | In 1 aandoening |
| ZIC2Zic family zinc finger 2 | Soms (5–29%) | In 1 aandoening |
| ZNF292zinc finger protein 292 | Soms (5–29%) | In 1 aandoening |
| ZNF423zinc finger protein 423 | Soms (5–29%) | In 1 aandoening |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Soms (5–29%) | In 1 aandoening |
| ZSWIM6zinc finger SWIM-type containing 6 | Soms (5–29%) | In 1 aandoening |
| ACBD6acyl-CoA binding domain containing 6 | Zelden (1–4%) | In 1 aandoening |
| ADA2adenosine deaminase 2 | Zelden (1–4%) | In 1 aandoening |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Zelden (1–4%) | In 1 aandoening |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Zelden (1–4%) | In 1 aandoening |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Zelden (1–4%) | In 1 aandoening |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Zelden (1–4%) | In 2 aandoeningen |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Zelden (1–4%) | In 1 aandoening |
| APC2APC regulator of Wnt signaling pathway 2 | Zelden (1–4%) | In 1 aandoening |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | 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 |
| COL11A2collagen type XI alpha 2 chain | Zelden (1–4%) | In 1 aandoening |
| COL2A1collagen type II alpha 1 chain | Zelden (1–4%) | In 1 aandoening |
| CTSKcathepsin K | Zelden (1–4%) | In 1 aandoening |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Zelden (1–4%) | In 1 aandoening |
| DMXL2Dmx like 2 | Zelden (1–4%) | In 1 aandoening |
| FN1fibronectin 1 | Zelden (1–4%) | In 1 aandoening |
| FOXE3forkhead box E3 | Zelden (1–4%) | In 1 aandoening |
| GATA1GATA binding protein 1 | Zelden (1–4%) | In 1 aandoening |
| GNAO1G protein subunit alpha o1 | Zelden (1–4%) | In 1 aandoening |
| GRK1G protein-coupled receptor kinase 1 | Zelden (1–4%) | In 1 aandoening |
| GRM7glutamate metabotropic receptor 7 | Zelden (1–4%) | In 1 aandoening |
| HEATR3HEAT repeat containing 3 | Zelden (1–4%) | In 1 aandoening |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Zelden (1–4%) | In 1 aandoening |
| LGI1leucine rich glioma inactivated 1 | Zelden (1–4%) | In 1 aandoening |
| MID1midline 1 | Zelden (1–4%) | In 1 aandoening |
| NEUROD2neuronal differentiation 2 | Zelden (1–4%) | In 1 aandoening |
| PAHphenylalanine hydroxylase | 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 |
| PITX2paired like homeodomain 2 | Zelden (1–4%) | In 2 aandoeningen |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Zelden (1–4%) | In 1 aandoening |
| PNKPpolynucleotide kinase 3'-phosphatase | Zelden (1–4%) | In 1 aandoening |
| PTBP1polypyrimidine tract binding protein 1 | Zelden (1–4%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Zelden (1–4%) | In 1 aandoening |
| RPL11ribosomal protein L11 | Zelden (1–4%) | In 1 aandoening |
| RPL15ribosomal protein L15 | Zelden (1–4%) | In 1 aandoening |
| RPL18ribosomal protein L18 | Zelden (1–4%) | In 1 aandoening |
| RPL26ribosomal protein L26 | Zelden (1–4%) | In 1 aandoening |
| RPL27ribosomal protein L27 | Zelden (1–4%) | In 1 aandoening |
| RPL31ribosomal protein L31 | Zelden (1–4%) | In 1 aandoening |
| RPL35ribosomal protein L35 | Zelden (1–4%) | In 1 aandoening |
| RPL35Aribosomal protein L35a | Zelden (1–4%) | In 1 aandoening |
| RPL5ribosomal protein L5 | Zelden (1–4%) | In 1 aandoening |
| RPL8ribosomal protein L8 | Zelden (1–4%) | In 1 aandoening |
| RPL9ribosomal protein L9 | Zelden (1–4%) | In 1 aandoening |
| RPS10ribosomal protein S10 | Zelden (1–4%) | In 1 aandoening |
| RPS15Aribosomal protein S15a | Zelden (1–4%) | In 1 aandoening |
| RPS17ribosomal protein S17 | Zelden (1–4%) | In 1 aandoening |
| RPS19ribosomal protein S19 | Zelden (1–4%) | In 2 aandoeningen |
| RPS20ribosomal protein S20 | Zelden (1–4%) | In 1 aandoening |
| RPS24ribosomal protein S24 | Zelden (1–4%) | In 1 aandoening |
| RPS26ribosomal protein S26 | Zelden (1–4%) | In 1 aandoening |
| RPS27ribosomal protein S27 | Zelden (1–4%) | In 1 aandoening |
| RPS28ribosomal protein S28 | Zelden (1–4%) | In 1 aandoening |
| RPS29ribosomal protein S29 | Zelden (1–4%) | In 1 aandoening |
| RPS7ribosomal protein S7 | Zelden (1–4%) | In 1 aandoening |
| SAGS-antigen visual arrestin | Zelden (1–4%) | In 1 aandoening |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Zelden (1–4%) | In 1 aandoening |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Zelden (1–4%) | In 1 aandoening |
| SIK1salt inducible kinase 1 | Zelden (1–4%) | In 1 aandoening |
| SLC25A22solute carrier family 25 member 22 | Zelden (1–4%) | In 1 aandoening |
| SLC32A1solute carrier family 32 member 1 | Zelden (1–4%) | In 1 aandoening |
| SPTBN1spectrin beta, non-erythrocytic 1 | Zelden (1–4%) | In 1 aandoening |
| TBC1D24TBC1 domain family member 24 | Zelden (1–4%) | In 1 aandoening |
| TRIM8tripartite motif containing 8 | Zelden (1–4%) | In 1 aandoening |
| TSR2TSR2 ribosome maturation factor | Zelden (1–4%) | In 1 aandoening |
| ABCC8ATP binding cassette subfamily C member 8 | Niet vastgelegd | In 1 aandoening |
| ADD3adducin 3 | Niet vastgelegd | In 1 aandoening |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Niet vastgelegd | In 1 aandoening |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Niet vastgelegd | In 1 aandoening |
| ATRATR checkpoint kinase | Niet vastgelegd | In 1 aandoening |
| BLTP1bridge-like lipid transfer protein family member 1 | Niet vastgelegd | In 1 aandoening |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Niet vastgelegd | In 1 aandoening |
| CCDC174coiled-coil domain containing 174 | Niet vastgelegd | In 1 aandoening |
| CCDC28Bcoiled-coil domain containing 28B | Niet vastgelegd | In 1 aandoening |
| CDCA7cell division cycle associated 7 | Niet vastgelegd | In 1 aandoening |
| CHATcholine O-acetyltransferase | Niet vastgelegd | In 1 aandoening |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Niet vastgelegd | In 2 aandoeningen |
| CLDN19claudin 19 | Niet vastgelegd | In 1 aandoening |
| COLEC11collectin subfamily member 11 | Niet vastgelegd | In 1 aandoening |
| CRYAAcrystallin alpha A | Niet vastgelegd | In 1 aandoening |
| CYB5R3cytochrome b5 reductase 3 | Niet vastgelegd | In 1 aandoening |
| DKC1dyskerin pseudouridine synthase 1 | Niet vastgelegd | In 1 aandoening |
| DNMT3ADNA methyltransferase 3 alpha | Niet vastgelegd | In 1 aandoening |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Niet vastgelegd | In 1 aandoening |
| ERLIN2ER lipid raft associated 2 | Niet vastgelegd | In 1 aandoening |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Niet vastgelegd | In 1 aandoening |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Niet vastgelegd | In 1 aandoening |
| GJB6gap junction protein beta 6 | Niet vastgelegd | In 1 aandoening |
| GKglycerol kinase | Niet vastgelegd | In 1 aandoening |
| GLRX5glutaredoxin 5 | Niet vastgelegd | In 1 aandoening |
| GMNNgeminin DNA replication inhibitor | Niet vastgelegd | In 1 aandoening |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Niet vastgelegd | In 1 aandoening |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Niet vastgelegd | In 2 aandoeningen |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| IGF1Rinsulin like growth factor 1 receptor | Niet vastgelegd | In 1 aandoening |
| INPP5Kinositol polyphosphate-5-phosphatase K | Niet vastgelegd | In 1 aandoening |
| JAG1jagged canonical Notch ligand 1 | Niet vastgelegd | In 1 aandoening |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Niet vastgelegd | In 1 aandoening |
| LRPPRCleucine rich pentatricopeptide repeat containing | Niet vastgelegd | In 1 aandoening |
| MC1Rmelanocortin 1 receptor | Niet vastgelegd | In 1 aandoening |
| MED13Lmediator complex subunit 13L | Niet vastgelegd | In 1 aandoening |
| MKRN3makorin ring finger protein 3 | Niet vastgelegd | In 1 aandoening |
| MN1MN1 proto-oncogene, transcriptional regulator | Niet vastgelegd | In 1 aandoening |
| MPDU1mannose-P-dolichol utilization defect 1 | Niet vastgelegd | In 1 aandoening |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Niet vastgelegd | In 1 aandoening |
| MUSKmuscle associated receptor tyrosine kinase | Niet vastgelegd | In 1 aandoening |
| NPAP1nuclear pore associated protein 1 | Niet vastgelegd | In 1 aandoening |
| NRXN1neurexin 1 | Niet vastgelegd | In 1 aandoening |
| ORC1origin recognition complex subunit 1 | Niet vastgelegd | In 1 aandoening |
| OSGEPO-sialoglycoprotein endopeptidase | Niet vastgelegd | In 1 aandoening |
| PACS1phosphofurin acidic cluster sorting protein 1 | Niet vastgelegd | In 1 aandoening |
| PBX1PBX homeobox 1 | Niet vastgelegd | In 1 aandoening |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Niet vastgelegd | In 2 aandoeningen |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Niet vastgelegd | In 1 aandoening |
| PRSS12serine protease 12 | Niet vastgelegd | In 1 aandoening |
| PWAR1Prader Willi/Angelman region RNA 1 | Niet vastgelegd | In 1 aandoening |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Niet vastgelegd | In 1 aandoening |
| RECQL4RecQ like helicase 4 | Niet vastgelegd | In 2 aandoeningen |
| SGPL1sphingosine-1-phosphate lyase 1 | Niet vastgelegd | In 1 aandoening |
| SNIP1Smad nuclear interacting protein 1 | Niet vastgelegd | In 1 aandoening |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Niet vastgelegd | In 1 aandoening |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Niet vastgelegd | In 1 aandoening |
| STRADASTE20 related adaptor alpha | Niet vastgelegd | In 1 aandoening |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Niet vastgelegd | In 1 aandoening |
| TCF20transcription factor 20 | Niet vastgelegd | In 1 aandoening |
| TDO2tryptophan 2,3-dioxygenase | Niet vastgelegd | In 1 aandoening |
| TGFBItransforming growth factor beta induced | Niet vastgelegd | In 2 aandoeningen |
| TREX1three prime repair exonuclease 1 | Niet vastgelegd | In 1 aandoening |
| TRIP12thyroid hormone receptor interactor 12 | Niet vastgelegd | In 1 aandoening |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Niet vastgelegd | In 1 aandoening |
| VAMP1vesicle associated membrane protein 1 | Niet vastgelegd | In 1 aandoening |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| WDR73WD repeat domain 73 | Niet vastgelegd | In 1 aandoening |
| WNK3WNK lysine deficient protein kinase 3 | Niet vastgelegd | In 1 aandoening |
| YARS2tyrosyl-tRNA synthetase 2 | Niet vastgelegd | In 1 aandoening |
| ZDHHC9zDHHC palmitoyltransferase 9 | 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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