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Kenmerk
Eye folds
Klinische naam: Epicanthus
A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
Samenvatting
- Ook bekend als
- Prominent eye folds, Epicanthal fold, Epicanthal folds, Epicanthic folds, Palpebronasal fold, Plica palpebronasalis
- Lichaamssysteem
- Abnormality of head or neck
Voor wie we er zijnOnze wetenschapProductenResultaten
InloggenVraagAan de slagvanaf $ 449
This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/epicanthus.json"
page <- fromJSON(url)
page$trait$nameEye foldsHP:0000286
Voor wie we er zijnOnze wetenschapProductenResultaten
InloggenVraagAan de slagvanaf $ 449
Lees de genen die aan Eye folds gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen652 genen gekoppeld aan Eye folds
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Eye folds 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 |
|---|---|---|
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Altijd | In 2 aandoeningen |
| AGO1argonaute RISC component 1 | Altijd | In 1 aandoening |
| AHDC1AT-hook DNA binding motif containing 1 | Altijd | In 1 aandoening |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Altijd | In 1 aandoening |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Altijd | In 2 aandoeningen |
| AMOTL1angiomotin like 1 | Altijd | In 1 aandoening |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Altijd | In 1 aandoening |
| ASPMassembly factor for spindle microtubules | Altijd | In 1 aandoening |
| ASXL3ASXL transcriptional regulator 3 | Altijd | In 1 aandoening |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Altijd | In 2 aandoeningen |
| ATRXATRX chromatin remodeler | Altijd | In 3 aandoeningen |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Altijd | In 1 aandoening |
| CCT3chaperonin containing TCP1 subunit 3 | Altijd | In 1 aandoening |
| CDK10cyclin dependent kinase 10 | Altijd | In 1 aandoening |
| COA3cytochrome c oxidase assembly factor 3 | Altijd | In 1 aandoening |
| COQ4coenzyme Q4 | Altijd | In 1 aandoening |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Altijd | In 1 aandoening |
| DAND5DAN domain BMP antagonist family member 5 | Altijd | In 1 aandoening |
| DDX11DEAD/H-box helicase 11 | Altijd | In 1 aandoening |
| DHCR77-dehydrocholesterol reductase | Altijd | In 2 aandoeningen |
| DHX9DExH-box helicase 9 | Altijd | In 1 aandoening |
| DMXL2Dmx like 2 | Altijd | In 1 aandoening |
| DNMT3ADNA methyltransferase 3 alpha | Altijd | In 2 aandoeningen |
| DPH1diphthamide biosynthesis 1 | Altijd | In 2 aandoeningen |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Altijd | In 1 aandoening |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altijd | In 1 aandoening |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altijd | In 1 aandoening |
| ERI1exoribonuclease 1 | Altijd | In 1 aandoening |
| FANCCFA complementation group C | Altijd | In 2 aandoeningen |
| FAT4FAT atypical cadherin 4 | Altijd | In 4 aandoeningen |
| FGFR1fibroblast growth factor receptor 1 | Altijd | In 2 aandoeningen |
| FIG4FIG4 phosphoinositide 5-phosphatase | Altijd | In 1 aandoening |
| FKBP14FKBP prolyl isomerase 14 | Altijd | In 1 aandoening |
| GUSBglucuronidase beta | Altijd | In 1 aandoening |
| IFT140intraflagellar transport 140 | Altijd | In 2 aandoeningen |
| INTS11integrator complex subunit 11 | Altijd | In 1 aandoening |
| JKAMPJNK1/MAPK8 associated membrane protein | Altijd | In 1 aandoening |
| KDM6Blysine demethylase 6B | Altijd | In 1 aandoening |
| KIAA0753KIAA0753 | Altijd | In 2 aandoeningen |
| LIG4DNA ligase 4 | Altijd | In 2 aandoeningen |
Toon nog 612 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| MAP1Bmicrotubule associated protein 1B | Altijd | In 1 aandoening |
| MAP2K2mitogen-activated protein kinase kinase 2 | Altijd | In 3 aandoeningen |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Altijd | In 1 aandoening |
| MARS1methionyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| MED12mediator complex subunit 12 | Altijd | In 2 aandoeningen |
| MICU1mitochondrial calcium uptake 1 | Altijd | In 1 aandoening |
| MRPL12mitochondrial ribosomal protein L12 | Altijd | In 1 aandoening |
| MTSS2MTSS I-BAR domain containing 2 | Altijd | In 1 aandoening |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Altijd | In 2 aandoeningen |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Altijd | In 1 aandoening |
| NSD1nuclear receptor binding SET domain protein 1 | Altijd | In 2 aandoeningen |
| NSD2nuclear receptor binding SET domain protein 2 | Altijd | In 3 aandoeningen |
| NUP188nucleoporin 188 | Altijd | In 1 aandoening |
| PALB2partner and localizer of BRCA2 | Altijd | In 2 aandoeningen |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altijd | In 1 aandoening |
| PEX19peroxisomal biogenesis factor 19 | Altijd | In 2 aandoeningen |
| POLR1ARNA polymerase I subunit A | Altijd | In 1 aandoening |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Altijd | In 2 aandoeningen |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Altijd | In 1 aandoening |
| RECQL4RecQ like helicase 4 | Altijd | In 3 aandoeningen |
| RIN2Ras and Rab interactor 2 | Altijd | In 1 aandoening |
| RNU2-2RNA, U2 small nuclear 2 | Altijd | In 1 aandoening |
| RPL17ribosomal protein L17 | Altijd | In 1 aandoening |
| RPS23ribosomal protein S23 | Altijd | In 1 aandoening |
| RSPRY1ring finger and SPRY domain containing 1 | Altijd | In 2 aandoeningen |
| SC5Dsterol-C5-desaturase | Altijd | In 2 aandoeningen |
| SLC13A1solute carrier family 13 member 1 | Altijd | In 1 aandoening |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Altijd | In 1 aandoening |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Altijd | In 1 aandoening |
| TASP1taspase 1 | Altijd | In 1 aandoening |
| TPRKBTP53RK binding protein | Altijd | In 1 aandoening |
| TUBBtubulin beta class I | Altijd | In 2 aandoeningen |
| UBAP2Lubiquitin associated protein 2 like | Altijd | In 1 aandoening |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Altijd | In 1 aandoening |
| UQCC2ubiquinol-cytochrome c reductase complex assembly factor 2 | Altijd | In 1 aandoening |
| VDRvitamin D receptor | Altijd | In 1 aandoening |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Altijd | In 2 aandoeningen |
| VPS51VPS51 subunit of GARP complex | Altijd | In 1 aandoening |
| VPS53VPS53 subunit of GARP complex | Altijd | In 1 aandoening |
| WT1WT1 transcription factor | Altijd | In 1 aandoening |
| WWOXWW domain containing oxidoreductase | Altijd | In 1 aandoening |
| ZNF148zinc finger protein 148 | Altijd | In 1 aandoening |
| ZNF407zinc finger protein 407 | Altijd | In 1 aandoening |
| ACTBactin beta | Heel vaak (80–99%) | In 3 aandoeningen |
| ACTG1actin gamma 1 | Heel vaak (80–99%) | In 1 aandoening |
| ALX4ALX homeobox 4 | Heel vaak (80–99%) | In 1 aandoening |
| ARVCFARVCF delta catenin family member | Heel vaak (80–99%) | In 1 aandoening |
| B4GALT7beta-1,4-galactosyltransferase 7 | Heel vaak (80–99%) | In 1 aandoening |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Heel vaak (80–99%) | In 1 aandoening |
| BCL11ABCL11 transcription factor A | Heel vaak (80–99%) | In 2 aandoeningen |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Heel vaak (80–99%) | In 2 aandoeningen |
| BUB3BUB3 mitotic checkpoint protein | Heel vaak (80–99%) | In 1 aandoening |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Heel vaak (80–99%) | In 1 aandoening |
| CD96CD96 molecule | Heel vaak (80–99%) | In 2 aandoeningen |
| CEP57centrosomal protein 57 | Heel vaak (80–99%) | In 2 aandoeningen |
| CLIP2CAP-Gly domain containing linker protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| CNTNAP1contactin associated protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| COMTcatechol-O-methyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| CPLX1complexin 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CTBP1C-terminal binding protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CTNND2catenin delta 2 | Heel vaak (80–99%) | In 1 aandoening |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Heel vaak (80–99%) | In 1 aandoening |
| DPH5diphthamide biosynthesis 5 | Heel vaak (80–99%) | In 1 aandoening |
| EIF4Heukaryotic translation initiation factor 4H | Heel vaak (80–99%) | In 1 aandoening |
| ELNelastin | Heel vaak (80–99%) | In 2 aandoeningen |
| EXT2exostosin glycosyltransferase 2 | Heel vaak (80–99%) | In 1 aandoening |
| FGF20fibroblast growth factor 20 | Heel vaak (80–99%) | In 1 aandoening |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Heel vaak (80–99%) | In 1 aandoening |
| FOXG1forkhead box G1 | Heel vaak (80–99%) | In 1 aandoening |
| GFRA1GDNF family receptor alpha 1 | Heel vaak (80–99%) | In 1 aandoening |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| GP1BBglycoprotein Ib platelet subunit beta | Heel vaak (80–99%) | In 1 aandoening |
| GREB1LGREB1 like retinoic acid receptor coactivator | Heel vaak (80–99%) | In 1 aandoening |
| GTF2Igeneral transcription factor IIi | Heel vaak (80–99%) | In 1 aandoening |
| GTF2IRD1GTF2I repeat domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| GTF2IRD2GTF2I repeat domain containing 2 | Heel vaak (80–99%) | In 1 aandoening |
| HIC1HIC ZBTB transcriptional repressor 1 | Heel vaak (80–99%) | In 1 aandoening |
| HIRAhistone cell cycle regulator | Heel vaak (80–99%) | In 1 aandoening |
| IFT122intraflagellar transport 122 | Heel vaak (80–99%) | In 2 aandoeningen |
| IFT43intraflagellar transport 43 | Heel vaak (80–99%) | In 2 aandoeningen |
| IFT52intraflagellar transport 52 | Heel vaak (80–99%) | In 1 aandoening |
| ITGA8integrin subunit alpha 8 | Heel vaak (80–99%) | In 1 aandoening |
| JMJD1Cjumonji domain containing 1C | Heel vaak (80–99%) | In 1 aandoening |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| LIMK1LIM domain kinase 1 | Heel vaak (80–99%) | In 1 aandoening |
| LONP1lon peptidase 1, mitochondrial | Heel vaak (80–99%) | In 1 aandoening |
| MECP2methyl-CpG binding protein 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| MEGF8multiple EGF like domains 8 | Heel vaak (80–99%) | In 2 aandoeningen |
| METTL27methyltransferase like 27 | Heel vaak (80–99%) | In 1 aandoening |
| MYMKmyomaker, myoblast fusion factor | Heel vaak (80–99%) | In 2 aandoeningen |
| MYMXmyomixer, myoblast fusion factor | Heel vaak (80–99%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| NELFAnegative elongation factor complex member A | Heel vaak (80–99%) | In 1 aandoening |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Heel vaak (80–99%) | In 2 aandoeningen |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | 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 1 aandoening |
| PEX11Bperoxisomal biogenesis factor 11 beta | 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 |
| PEX2peroxisomal biogenesis factor 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX26peroxisomal biogenesis factor 26 | Heel vaak (80–99%) | In 1 aandoening |
| 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 1 aandoening |
| PHF21APHD finger protein 21A | Heel vaak (80–99%) | In 1 aandoening |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Heel vaak (80–99%) | In 1 aandoening |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Heel vaak (80–99%) | In 3 aandoeningen |
| PTCH1patched 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| RAB23RAB23, member RAS oncogene family | Heel vaak (80–99%) | In 2 aandoeningen |
| RELREL proto-oncogene, NF-kB subunit | Heel vaak (80–99%) | In 1 aandoening |
| RETret proto-oncogene | Heel vaak (80–99%) | In 1 aandoening |
| RFC2replication factor C subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| RPS6KA3ribosomal protein S6 kinase A3 | Heel vaak (80–99%) | In 1 aandoening |
| RREB1ras responsive element binding protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| RYR1ryanodine receptor 1 | Heel vaak (80–99%) | In 1 aandoening |
| SEC24CSEC24 homolog C, COPII component | Heel vaak (80–99%) | In 1 aandoening |
| SEMA5Asemaphorin 5A | Heel vaak (80–99%) | In 1 aandoening |
| SIAH1siah E3 ubiquitin protein ligase 1 | Heel vaak (80–99%) | In 1 aandoening |
| SLC25A24solute carrier family 25 member 24 | Heel vaak (80–99%) | In 1 aandoening |
| STX1Asyntaxin 1A | Heel vaak (80–99%) | In 1 aandoening |
| TBL2transducin beta like 2 | Heel vaak (80–99%) | In 1 aandoening |
| TBX1T-box transcription factor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| TMEM270transmembrane protein 270 | Heel vaak (80–99%) | In 1 aandoening |
| TRIP13thyroid hormone receptor interactor 13 | Heel vaak (80–99%) | In 1 aandoening |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Heel vaak (80–99%) | In 1 aandoening |
| VPS37DVPS37D subunit of ESCRT-I | Heel vaak (80–99%) | In 1 aandoening |
| WDR19WD repeat domain 19 | Heel vaak (80–99%) | In 2 aandoeningen |
| WDR35WD repeat domain 35 | Heel vaak (80–99%) | In 4 aandoeningen |
| WNT9BWnt family member 9B | Heel vaak (80–99%) | In 1 aandoening |
| XPO1exportin 1 | Heel vaak (80–99%) | In 1 aandoening |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Heel vaak (80–99%) | In 1 aandoening |
| ZBTB18zinc finger and BTB domain containing 18 | Heel vaak (80–99%) | In 2 aandoeningen |
| ZBTB20zinc finger and BTB domain containing 20 | Heel vaak (80–99%) | In 1 aandoening |
| ZNHIT3zinc finger HIT-type containing 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| ABCC9ATP binding cassette subfamily C member 9 | Vaak (30–79%) | In 2 aandoeningen |
| ACOX1acyl-CoA oxidase 1 | Vaak (30–79%) | In 2 aandoeningen |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Vaak (30–79%) | In 1 aandoening |
| ADAMTSL2ADAMTS like 2 | Vaak (30–79%) | In 1 aandoening |
| ADAT3adenosine deaminase tRNA specific 3 | Vaak (30–79%) | In 2 aandoeningen |
| AFF2ALF transcription elongation factor 2 | Vaak (30–79%) | In 2 aandoeningen |
| AGO2argonaute RISC catalytic component 2 | Vaak (30–79%) | In 1 aandoening |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Vaak (30–79%) | In 2 aandoeningen |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Vaak (30–79%) | In 1 aandoening |
| ALX1ALX homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| ALX3ALX homeobox 3 | Vaak (30–79%) | In 2 aandoeningen |
| ANTXR1ANTXR cell adhesion molecule 1 | Vaak (30–79%) | In 1 aandoening |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Vaak (30–79%) | In 1 aandoening |
| ARID1BAT-rich interaction domain 1B | Vaak (30–79%) | In 1 aandoening |
| ARID2AT-rich interaction domain 2 | Vaak (30–79%) | In 1 aandoening |
| ASXL2ASXL transcriptional regulator 2 | Vaak (30–79%) | In 1 aandoening |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | 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 |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Vaak (30–79%) | In 1 aandoening |
| BMP2bone morphogenetic protein 2 | Vaak (30–79%) | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Vaak (30–79%) | In 3 aandoeningen |
| BRPF1bromodomain and PHD finger containing 1 | Vaak (30–79%) | In 1 aandoening |
| CASZ1castor zinc finger 1 | Vaak (30–79%) | In 1 aandoening |
| CBLCbl proto-oncogene | Vaak (30–79%) | In 1 aandoening |
| CCBE1collagen and calcium binding EGF domains 1 | Vaak (30–79%) | In 2 aandoeningen |
| CERT1ceramide transporter 1 | Vaak (30–79%) | In 1 aandoening |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Vaak (30–79%) | In 1 aandoening |
| CHRNGcholinergic receptor nicotinic gamma subunit | Vaak (30–79%) | In 3 aandoeningen |
| CLCN7Cl-/H+ antiporter 7 | Vaak (30–79%) | In 1 aandoening |
| COG8component of oligomeric golgi complex 8 | Vaak (30–79%) | In 1 aandoening |
| COL1A1collagen type I alpha 1 chain | Vaak (30–79%) | In 2 aandoeningen |
| COL1A2collagen type I alpha 2 chain | Vaak (30–79%) | In 1 aandoening |
| COL9A1collagen type IX alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| CREBBPCREB binding lysine acetyltransferase | Vaak (30–79%) | In 3 aandoeningen |
| CSNK2A1casein kinase 2 alpha 1 | Vaak (30–79%) | In 1 aandoening |
| DDB1damage specific DNA binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| DDX6DEAD-box helicase 6 | Vaak (30–79%) | In 1 aandoening |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Vaak (30–79%) | In 1 aandoening |
| DLX4distal-less homeobox 4 | Vaak (30–79%) | In 1 aandoening |
| DVL1dishevelled segment polarity protein 1 | Vaak (30–79%) | In 3 aandoeningen |
| DVL3dishevelled segment polarity protein 3 | Vaak (30–79%) | In 2 aandoeningen |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Vaak (30–79%) | In 1 aandoening |
| DYNC2I1dynein 2 intermediate chain 1 | Vaak (30–79%) | In 1 aandoening |
| DYNC2I2dynein 2 intermediate chain 2 | Vaak (30–79%) | In 1 aandoening |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Vaak (30–79%) | In 1 aandoening |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Vaak (30–79%) | In 1 aandoening |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Vaak (30–79%) | In 2 aandoeningen |
| EIF5Aeukaryotic translation initiation factor 5A | Vaak (30–79%) | In 1 aandoening |
| EMILIN1elastin microfibril interfacer 1 | Vaak (30–79%) | In 1 aandoening |
| EP300EP300 lysine acetyltransferase | Vaak (30–79%) | In 3 aandoeningen |
| FAM149B1family with sequence similarity 149 member B1 | Vaak (30–79%) | In 1 aandoening |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Vaak (30–79%) | In 1 aandoening |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| FEM1Bfem-1 homolog B | Vaak (30–79%) | In 1 aandoening |
| FGF10fibroblast growth factor 10 | Vaak (30–79%) | In 1 aandoening |
| FGFRL1fibroblast growth factor receptor like 1 | Vaak (30–79%) | In 1 aandoening |
| FILIP1filamin A interacting protein 1 | Vaak (30–79%) | In 1 aandoening |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Vaak (30–79%) | In 1 aandoening |
| FLNAfilamin A | Vaak (30–79%) | In 2 aandoeningen |
| FZD2frizzled class receptor 2 | Vaak (30–79%) | In 1 aandoening |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Vaak (30–79%) | In 1 aandoening |
| GATA4GATA binding protein 4 | Vaak (30–79%) | In 1 aandoening |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Vaak (30–79%) | In 3 aandoeningen |
| GPC3glypican 3 | Vaak (30–79%) | In 2 aandoeningen |
| GPC4glypican 4 | Vaak (30–79%) | In 2 aandoeningen |
| GPT2glutamic--pyruvic transaminase 2 | Vaak (30–79%) | In 1 aandoening |
| HBA1hemoglobin subunit alpha 1 | Vaak (30–79%) | In 1 aandoening |
| HBA2hemoglobin subunit alpha 2 | Vaak (30–79%) | In 1 aandoening |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Vaak (30–79%) | In 2 aandoeningen |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Vaak (30–79%) | In 1 aandoening |
| HOXB1homeobox B1 | 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 1 aandoening |
| IFT80intraflagellar transport 80 | Vaak (30–79%) | In 1 aandoening |
| INTS1integrator complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| KANSL1KAT8 regulatory NSL complex subunit 1 | 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 |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Vaak (30–79%) | In 2 aandoeningen |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Vaak (30–79%) | In 1 aandoening |
| KDM6Alysine demethylase 6A | Vaak (30–79%) | In 2 aandoeningen |
| KIF7kinesin family member 7 | Vaak (30–79%) | In 2 aandoeningen |
| KMT2Alysine methyltransferase 2A | Vaak (30–79%) | In 2 aandoeningen |
| KMT2Blysine methyltransferase 2B | Vaak (30–79%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Vaak (30–79%) | In 5 aandoeningen |
| LGI1leucine rich glioma inactivated 1 | 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 |
| MAP2K1mitogen-activated protein kinase kinase 1 | Vaak (30–79%) | In 3 aandoeningen |
| MAPRE2microtubule associated protein RP/EB family member 2 | Vaak (30–79%) | In 2 aandoeningen |
| MED25mediator complex subunit 25 | Vaak (30–79%) | In 2 aandoeningen |
| MLXIPLMLX interacting protein like | Vaak (30–79%) | In 1 aandoening |
| MMP23Bmatrix metallopeptidase 23B | Vaak (30–79%) | In 1 aandoening |
| MSL3MSL complex subunit 3 | Vaak (30–79%) | In 1 aandoening |
| MYH3myosin heavy chain 3 | Vaak (30–79%) | In 2 aandoeningen |
| NBASNBAS subunit of NRZ tethering complex | Vaak (30–79%) | In 1 aandoening |
| NCDNneurochondrin | Vaak (30–79%) | In 1 aandoening |
| NF1neurofibromin 1 | Vaak (30–79%) | In 3 aandoeningen |
| NFIXnuclear factor I X | Vaak (30–79%) | In 1 aandoening |
| NKX2-5NK2 homeobox 5 | Vaak (30–79%) | In 1 aandoening |
| NXNnucleoredoxin | Vaak (30–79%) | In 1 aandoening |
| OFD1OFD1 centriole and centriolar satellite protein | Vaak (30–79%) | In 4 aandoeningen |
| PDE6Dphosphodiesterase 6D | Vaak (30–79%) | In 1 aandoening |
| PDPNpodoplanin | Vaak (30–79%) | In 1 aandoening |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Vaak (30–79%) | In 1 aandoening |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Vaak (30–79%) | In 2 aandoeningen |
| PMM2phosphomannomutase 2 | Vaak (30–79%) | In 1 aandoening |
| POGZpogo transposable element derived with ZNF domain | Vaak (30–79%) | In 1 aandoening |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Vaak (30–79%) | In 2 aandoeningen |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Vaak (30–79%) | In 1 aandoening |
| PQBP1polyglutamine binding protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| PRDM13PR/SET domain 13 | Vaak (30–79%) | In 2 aandoeningen |
| PRDM16PR/SET domain 16 | Vaak (30–79%) | In 1 aandoening |
| PREPLprolyl endopeptidase like | Vaak (30–79%) | In 1 aandoening |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Vaak (30–79%) | In 1 aandoening |
| PRKCZprotein kinase C zeta | Vaak (30–79%) | In 1 aandoening |
| PTBP1polypyrimidine tract binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| PTENphosphatase and tensin homolog | Vaak (30–79%) | In 1 aandoening |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Vaak (30–79%) | In 1 aandoening |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Vaak (30–79%) | In 2 aandoeningen |
| PUF60poly(U) binding splicing factor 60 | Vaak (30–79%) | In 1 aandoening |
| PUM1pumilio RNA binding family member 1 | Vaak (30–79%) | In 1 aandoening |
| QARS1glutaminyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Vaak (30–79%) | In 2 aandoeningen |
| RB1RB transcriptional corepressor 1 | Vaak (30–79%) | In 1 aandoening |
| RBSNrabenosyn, RAB effector | Vaak (30–79%) | In 1 aandoening |
| REREarginine-glutamic acid dipeptide repeats | Vaak (30–79%) | In 3 aandoeningen |
| 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 |
| ROR2ROR family WNT receptor 2 | Vaak (30–79%) | In 2 aandoeningen |
| RYR3ryanodine receptor 3 | Vaak (30–79%) | In 1 aandoening |
| SCNM1sodium channel modifier 1 | Vaak (30–79%) | In 1 aandoening |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Vaak (30–79%) | In 1 aandoening |
| SETD5SET domain containing 5 | Vaak (30–79%) | In 1 aandoening |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Vaak (30–79%) | In 1 aandoening |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Vaak (30–79%) | In 2 aandoeningen |
| SHROOM4shroom family member 4 | Vaak (30–79%) | In 1 aandoening |
| SIN3ASIN3 transcription regulator family member A | Vaak (30–79%) | In 2 aandoeningen |
| SKISKI proto-oncogene | Vaak (30–79%) | In 1 aandoening |
| SLC35A2solute carrier family 35 member A2 | Vaak (30–79%) | In 1 aandoening |
| SLC3A1solute carrier family 3 member 1 | Vaak (30–79%) | In 1 aandoening |
| SMC3structural maintenance of chromosomes 3 | Vaak (30–79%) | In 1 aandoening |
| SONSON DNA and RNA binding protein | Vaak (30–79%) | In 2 aandoeningen |
| SOX4SRY-box transcription factor 4 | Vaak (30–79%) | In 1 aandoening |
| SPENspen family transcriptional repressor | Vaak (30–79%) | In 2 aandoeningen |
| SPOPspeckle type BTB/POZ protein | Vaak (30–79%) | In 1 aandoening |
| SPRED2sprouty related EVH1 domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| STAG2STAG2 cohesin complex component | Vaak (30–79%) | In 1 aandoening |
| TBC1D24TBC1 domain family member 24 | Vaak (30–79%) | In 2 aandoeningen |
| TBX2T-box transcription factor 2 | Vaak (30–79%) | In 1 aandoening |
| TCTN3tectonic family member 3 | Vaak (30–79%) | In 2 aandoeningen |
| TEFMtranscription elongation factor, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| TFE3transcription factor binding to IGHM enhancer 3 | Vaak (30–79%) | In 1 aandoening |
| THOC6THO complex subunit 6 | Vaak (30–79%) | In 1 aandoening |
| TLK2tousled like kinase 2 | Vaak (30–79%) | In 1 aandoening |
| TMCO1transmembrane and coiled-coil domains 1 | Vaak (30–79%) | In 2 aandoeningen |
| TMEM147transmembrane protein 147 | Vaak (30–79%) | In 1 aandoening |
| TMEM216transmembrane protein 216 | Vaak (30–79%) | In 1 aandoening |
| TMEM231transmembrane protein 231 | Vaak (30–79%) | In 1 aandoening |
| TMEM53transmembrane protein 53 | Vaak (30–79%) | In 1 aandoening |
| TOE1target of EGR1, exonuclease | Vaak (30–79%) | In 2 aandoeningen |
| TOP2BDNA topoisomerase II beta | Vaak (30–79%) | In 1 aandoening |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Vaak (30–79%) | In 1 aandoening |
| TRAF7TNF receptor associated factor 7 | Vaak (30–79%) | In 1 aandoening |
| TRAPPC9trafficking protein particle complex subunit 9 | Vaak (30–79%) | In 1 aandoening |
| TRIM33tripartite motif containing 33 | Vaak (30–79%) | In 1 aandoening |
| TWIST2twist family bHLH transcription factor 2 | Vaak (30–79%) | In 2 aandoeningen |
| UBE3Bubiquitin protein ligase E3B | Vaak (30–79%) | In 2 aandoeningen |
| UBE4Bubiquitination factor E4B | Vaak (30–79%) | In 1 aandoening |
| WDR37WD repeat domain 37 | Vaak (30–79%) | In 1 aandoening |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Vaak (30–79%) | In 1 aandoening |
| WNT5AWnt family member 5A | Vaak (30–79%) | In 2 aandoeningen |
| YARS1tyrosyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| ZFXzinc finger protein X-linked | Vaak (30–79%) | In 1 aandoening |
| ZMYM2zinc finger MYM-type containing 2 | Vaak (30–79%) | In 1 aandoening |
| ZNF462zinc finger protein 462 | Vaak (30–79%) | In 2 aandoeningen |
| AARS1alanyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| ABCA5ATP binding cassette subfamily A member 5 | Soms (5–29%) | In 1 aandoening |
| ADNPactivity dependent neuroprotector homeobox | Soms (5–29%) | In 1 aandoening |
| AMER1APC membrane recruitment protein 1 | Soms (5–29%) | In 2 aandoeningen |
| ANK1ankyrin 1 | Soms (5–29%) | In 1 aandoening |
| ASXL1ASXL transcriptional regulator 1 | Soms (5–29%) | In 1 aandoening |
| BCAS3BCAS3 microtubule associated cell migration factor | Soms (5–29%) | In 1 aandoening |
| BCL11BBCL11 transcription factor B | Soms (5–29%) | In 1 aandoening |
| BLNKB cell linker | Soms (5–29%) | In 1 aandoening |
| BORCS8BLOC-1 related complex subunit 8 | Soms (5–29%) | In 1 aandoening |
| BPTFbromodomain PHD finger transcription factor | Soms (5–29%) | In 1 aandoening |
| BRCA1BRCA1 DNA repair associated | Soms (5–29%) | In 2 aandoeningen |
| BRCA2BRCA2 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRIP1BRCA1 interacting DNA helicase 1 | Soms (5–29%) | In 1 aandoening |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Soms (5–29%) | In 1 aandoening |
| CARS1cysteinyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| CCDC47coiled-coil domain containing 47 | Soms (5–29%) | In 1 aandoening |
| CD79ACD79a molecule | Soms (5–29%) | In 1 aandoening |
| CD79BCD79b molecule | Soms (5–29%) | In 1 aandoening |
| CDCA7cell division cycle associated 7 | Soms (5–29%) | In 2 aandoeningen |
| CDK13cyclin dependent kinase 13 | Soms (5–29%) | In 1 aandoening |
| CHD5chromodomain helicase DNA binding protein 5 | Soms (5–29%) | In 1 aandoening |
| CHD7chromodomain helicase DNA binding protein 7 | Soms (5–29%) | In 1 aandoening |
| CHD8chromodomain helicase DNA binding protein 8 | Soms (5–29%) | In 1 aandoening |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Soms (5–29%) | In 1 aandoening |
| CLCN3Cl-/H+ antiporter 3 | Soms (5–29%) | In 1 aandoening |
| COG6component of oligomeric golgi complex 6 | Soms (5–29%) | In 1 aandoening |
| COL18A1collagen type XVIII alpha 1 chain | Soms (5–29%) | In 2 aandoeningen |
| COL5A1collagen type V alpha 1 chain | Soms (5–29%) | In 2 aandoeningen |
| COL5A2collagen type V alpha 2 chain | Soms (5–29%) | In 2 aandoeningen |
| CSF1Rcolony stimulating factor 1 receptor | Soms (5–29%) | In 1 aandoening |
| CSPP1centrosome and spindle pole associated protein 1 | Soms (5–29%) | In 1 aandoening |
| CTCFCCCTC-binding factor | Soms (5–29%) | In 2 aandoeningen |
| CTNNB1catenin beta 1 | Soms (5–29%) | In 1 aandoening |
| CUL4Bcullin 4B | Soms (5–29%) | In 1 aandoening |
| DBR1debranching RNA lariats 1 | Soms (5–29%) | In 1 aandoening |
| DCHS1dachsous cadherin-related 1 | Soms (5–29%) | In 2 aandoeningen |
| DEAF1DEAF1 transcription factor | Soms (5–29%) | In 1 aandoening |
| DHCR2424-dehydrocholesterol reductase | Soms (5–29%) | In 2 aandoeningen |
| DHX16DEAH-box helicase 16 | Soms (5–29%) | In 1 aandoening |
| DHX30DExH-box helicase 30 | Soms (5–29%) | In 1 aandoening |
| DLK1delta like non-canonical Notch ligand 1 | Soms (5–29%) | In 2 aandoeningen |
| DNMT3BDNA methyltransferase 3 beta | Soms (5–29%) | In 2 aandoeningen |
| DOT1LDOT1 like histone lysine methyltransferase | Soms (5–29%) | In 1 aandoening |
| DPF2double PHD fingers 2 | Soms (5–29%) | In 1 aandoening |
| DPH2diphthamide biosynthesis 2 | Soms (5–29%) | In 1 aandoening |
| EBF3EBF transcription factor 3 | Soms (5–29%) | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Soms (5–29%) | In 1 aandoening |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Soms (5–29%) | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Soms (5–29%) | In 1 aandoening |
| FAAP100FA core complex associated protein 100 | Soms (5–29%) | In 1 aandoening |
| FANCAFA complementation group A | Soms (5–29%) | In 1 aandoening |
| FANCBFA complementation group B | Soms (5–29%) | In 1 aandoening |
| FANCD2FA complementation group D2 | Soms (5–29%) | In 1 aandoening |
| FANCEFA complementation group E | Soms (5–29%) | In 1 aandoening |
| FANCFFA complementation group F | Soms (5–29%) | In 1 aandoening |
| FANCGFA complementation group G | Soms (5–29%) | In 1 aandoening |
| FANCIFA complementation group I | Soms (5–29%) | In 1 aandoening |
| FANCLFA complementation group L | Soms (5–29%) | In 1 aandoening |
| FANCMFA complementation group M | Soms (5–29%) | In 1 aandoening |
| FBXL4F-box and leucine rich repeat protein 4 | Soms (5–29%) | In 1 aandoening |
| FBXO11F-box protein 11 | Soms (5–29%) | In 1 aandoening |
| FERRY3FERRY endosomal RAB5 effector complex subunit 3 | Soms (5–29%) | In 1 aandoening |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Soms (5–29%) | In 1 aandoening |
| FGFR2fibroblast growth factor receptor 2 | Soms (5–29%) | In 1 aandoening |
| FGFR3fibroblast growth factor receptor 3 | Soms (5–29%) | In 1 aandoening |
| FIBPFGF1 intracellular binding protein | Soms (5–29%) | In 2 aandoeningen |
| FLT4fms related receptor tyrosine kinase 4 | Soms (5–29%) | In 1 aandoening |
| FOCADfocadhesin | Soms (5–29%) | In 1 aandoening |
| FOXP2forkhead box P2 | Soms (5–29%) | In 1 aandoening |
| FRYLFRY like transcription coactivator | Soms (5–29%) | In 1 aandoening |
| GATA2GATA binding protein 2 | Soms (5–29%) | In 1 aandoening |
| GATAD2BGATA zinc finger domain containing 2B | Soms (5–29%) | In 1 aandoening |
| GDF11growth differentiation factor 11 | Soms (5–29%) | In 1 aandoening |
| GJA1gap junction protein alpha 1 | Soms (5–29%) | In 3 aandoeningen |
| 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 |
| GTF2E2general transcription factor IIE subunit 2 | Soms (5–29%) | In 1 aandoening |
| GTF2H5general transcription factor IIH subunit 5 | Soms (5–29%) | In 1 aandoening |
| GTF3C3general transcription factor IIIC subunit 3 | 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 |
| HELLShelicase, lymphoid specific | Soms (5–29%) | In 2 aandoeningen |
| HIVEP2HIVEP zinc finger 2 | Soms (5–29%) | In 1 aandoening |
| HK1hexokinase 1 | Soms (5–29%) | In 1 aandoening |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Soms (5–29%) | In 1 aandoening |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Soms (5–29%) | In 1 aandoening |
| IGHMimmunoglobulin heavy constant mu | Soms (5–29%) | In 1 aandoening |
| IGLL1immunoglobulin lambda like polypeptide 1 | Soms (5–29%) | In 1 aandoening |
| JARID2jumonji and AT-rich interaction domain containing 2 | Soms (5–29%) | In 1 aandoening |
| KAT8lysine acetyltransferase 8 | Soms (5–29%) | In 1 aandoening |
| KCTD1potassium channel tetramerization domain containing 1 | Soms (5–29%) | In 1 aandoening |
| KDM2Blysine demethylase 2B | Soms (5–29%) | In 1 aandoening |
| KIAA0586KIAA0586 | Soms (5–29%) | In 1 aandoening |
| KIF11kinesin family member 11 | Soms (5–29%) | In 2 aandoeningen |
| KLHL20kelch like family member 20 | Soms (5–29%) | In 1 aandoening |
| KMT2Dlysine methyltransferase 2D | Soms (5–29%) | In 2 aandoeningen |
| KMT5Blysine methyltransferase 5B | Soms (5–29%) | In 1 aandoening |
| LRRC7leucine rich repeat containing 7 | Soms (5–29%) | In 1 aandoening |
| LRRC8Aleucine rich repeat containing 8 VRAC subunit A | Soms (5–29%) | In 2 aandoeningen |
| MAB21L2mab-21 like 2 | Soms (5–29%) | In 1 aandoening |
| MACF1microtubule actin crosslinking factor 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 |
| MAPK1mitogen-activated protein kinase 1 | Soms (5–29%) | In 1 aandoening |
| MARK2microtubule affinity regulating kinase 2 | Soms (5–29%) | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Soms (5–29%) | In 1 aandoening |
| MED13Lmediator complex subunit 13L | Soms (5–29%) | In 1 aandoening |
| MEG3maternally expressed 3 | Soms (5–29%) | In 2 aandoeningen |
| MPC1mitochondrial pyruvate carrier 1 | Soms (5–29%) | In 1 aandoening |
| MPLKIPM-phase specific PLK1 interacting protein | Soms (5–29%) | In 2 aandoeningen |
| MSL2MSL complex subunit 2 | Soms (5–29%) | In 1 aandoening |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NALCNsodium leak channel, non-selective | Soms (5–29%) | In 1 aandoening |
| NBNnibrin | Soms (5–29%) | In 1 aandoening |
| NDST1N-deacetylase and N-sulfotransferase 1 | Soms (5–29%) | In 1 aandoening |
| NONOnon-POU domain containing octamer binding | Soms (5–29%) | In 1 aandoening |
| NOTCH3notch receptor 3 | Soms (5–29%) | In 1 aandoening |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Soms (5–29%) | In 2 aandoeningen |
| PAK2p21 (RAC1) activated kinase 2 | Soms (5–29%) | In 1 aandoening |
| PCDHGC4protocadherin gamma subfamily C, 4 | Soms (5–29%) | In 1 aandoening |
| PDE4Dphosphodiesterase 4D | Soms (5–29%) | In 1 aandoening |
| PGAP2post-GPI attachment to proteins 2 | Soms (5–29%) | In 1 aandoening |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Soms (5–29%) | In 1 aandoening |
| PGM2L1phosphoglucomutase 2 like 1 | Soms (5–29%) | In 1 aandoening |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Soms (5–29%) | In 2 aandoeningen |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Soms (5–29%) | In 2 aandoeningen |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Soms (5–29%) | In 1 aandoening |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Soms (5–29%) | In 1 aandoening |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Soms (5–29%) | In 1 aandoening |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Soms (5–29%) | In 1 aandoening |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Soms (5–29%) | In 1 aandoening |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Soms (5–29%) | In 2 aandoeningen |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Soms (5–29%) | In 1 aandoening |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Soms (5–29%) | In 1 aandoening |
| PLXND1plexin D1 | Soms (5–29%) | In 1 aandoening |
| PNPLA6patatin like domain 6, lysophospholipase | Soms (5–29%) | In 1 aandoening |
| POLRMTRNA polymerase mitochondrial | Soms (5–29%) | In 1 aandoening |
| POU3F3POU class 3 homeobox 3 | Soms (5–29%) | In 1 aandoening |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Soms (5–29%) | In 1 aandoening |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Soms (5–29%) | In 2 aandoeningen |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Soms (5–29%) | In 1 aandoening |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Soms (5–29%) | In 2 aandoeningen |
| PRMT7protein arginine methyltransferase 7 | Soms (5–29%) | In 1 aandoening |
| PRORPprotein only RNase P catalytic subunit | Soms (5–29%) | In 1 aandoening |
| PTCH2patched 2 | Soms (5–29%) | In 1 aandoening |
| PURApurine rich element binding protein A | Soms (5–29%) | In 1 aandoening |
| RAD51RAD51 recombinase | Soms (5–29%) | In 1 aandoening |
| RAD51CRAD51 paralog C | Soms (5–29%) | In 1 aandoening |
| RAP1BRAP1B, member of RAS oncogene family | Soms (5–29%) | In 1 aandoening |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Soms (5–29%) | In 1 aandoening |
| RFWD3ring finger and WD repeat domain 3 | Soms (5–29%) | In 1 aandoening |
| RFX7regulatory factor X7 | Soms (5–29%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Soms (5–29%) | In 1 aandoening |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Soms (5–29%) | In 1 aandoening |
| RNF113Aring finger protein 113A | Soms (5–29%) | In 1 aandoening |
| RPL10ribosomal protein L10 | Soms (5–29%) | In 2 aandoeningen |
| RPS19ribosomal protein S19 | Soms (5–29%) | In 2 aandoeningen |
| RTL1retrotransposon Gag like 1 | Soms (5–29%) | In 2 aandoeningen |
| SALL4spalt like transcription factor 4 | Soms (5–29%) | In 2 aandoeningen |
| SCAF4SR-related CTD associated factor 4 | Soms (5–29%) | In 1 aandoening |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Soms (5–29%) | In 1 aandoening |
| SEMA3Esemaphorin 3E | Soms (5–29%) | In 1 aandoening |
| SEPTIN9septin 9 | Soms (5–29%) | In 2 aandoeningen |
| SLC26A2solute carrier family 26 member 2 | Soms (5–29%) | In 1 aandoening |
| SLC6A1solute carrier family 6 member 1 | Soms (5–29%) | In 1 aandoening |
| SLC6A11solute carrier family 6 member 11 | Soms (5–29%) | In 1 aandoening |
| SLX4SLX4 structure-specific endonuclease subunit | Soms (5–29%) | In 1 aandoening |
| SMC5structural maintenance of chromosomes 5 | Soms (5–29%) | In 1 aandoening |
| SMPD4sphingomyelin phosphodiesterase 4 | Soms (5–29%) | In 1 aandoening |
| SOX9SRY-box transcription factor 9 | Soms (5–29%) | In 1 aandoening |
| SPARTspartin | Soms (5–29%) | In 1 aandoening |
| SPI1Spi-1 proto-oncogene | Soms (5–29%) | In 1 aandoening |
| SRRM2serine/arginine repetitive matrix 2 | Soms (5–29%) | In 1 aandoening |
| SRYsex determining region Y | Soms (5–29%) | In 1 aandoening |
| SUFUSUFU negative regulator of hedgehog signaling | Soms (5–29%) | In 1 aandoening |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Soms (5–29%) | In 2 aandoeningen |
| SVBPsmall vasohibin binding protein | Soms (5–29%) | In 1 aandoening |
| SYT1synaptotagmin 1 | Soms (5–29%) | In 2 aandoeningen |
| TAF1TATA-box binding protein associated factor 1 | Soms (5–29%) | In 1 aandoening |
| TARS1threonyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| TBCBtubulin folding cofactor B | Soms (5–29%) | In 1 aandoening |
| TBCKTBC1 domain containing kinase | Soms (5–29%) | In 2 aandoeningen |
| TBX22T-box transcription factor 22 | Soms (5–29%) | In 1 aandoening |
| TBX4T-box transcription factor 4 | Soms (5–29%) | In 1 aandoening |
| TCF3transcription factor 3 | Soms (5–29%) | In 1 aandoening |
| TONSLtonsoku like, DNA repair protein | Soms (5–29%) | In 1 aandoening |
| TRIOtrio Rho guanine nucleotide exchange factor | Soms (5–29%) | In 2 aandoeningen |
| TRIP12thyroid hormone receptor interactor 12 | Soms (5–29%) | In 1 aandoening |
| TRMT10AtRNA methyltransferase 10A | Soms (5–29%) | In 1 aandoening |
| TUBB3tubulin beta 3 class III | Soms (5–29%) | In 1 aandoening |
| TWIST1twist family bHLH transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| UBE2Tubiquitin conjugating enzyme E2 T | Soms (5–29%) | In 1 aandoening |
| UBE3Aubiquitin protein ligase E3A | Soms (5–29%) | In 1 aandoening |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Soms (5–29%) | In 1 aandoening |
| UGDHUDP-glucose 6-dehydrogenase | Soms (5–29%) | In 1 aandoening |
| UGP2UDP-glucose pyrophosphorylase 2 | Soms (5–29%) | In 1 aandoening |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Soms (5–29%) | In 1 aandoening |
| WACWW domain containing adaptor with coiled-coil | Soms (5–29%) | In 1 aandoening |
| WBP4WW domain binding protein 4 | Soms (5–29%) | In 1 aandoening |
| WDR83OSWD repeat domain 83 opposite strand | Soms (5–29%) | In 1 aandoening |
| XRCC2X-ray repair cross complementing 2 | Soms (5–29%) | In 1 aandoening |
| XYLT1xylosyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| ZBTB24zinc finger and BTB domain containing 24 | Soms (5–29%) | In 2 aandoeningen |
| ZNF292zinc finger protein 292 | Soms (5–29%) | In 1 aandoening |
| ZSCAN10zinc finger and SCAN domain containing 10 | 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 |
| CNTNAP2contactin associated protein 2 | Zelden (1–4%) | In 1 aandoening |
| EPG5ectopic P-granules 5 autophagy tethering factor | Zelden (1–4%) | In 1 aandoening |
| GATA1GATA binding protein 1 | Zelden (1–4%) | In 1 aandoening |
| HEATR3HEAT repeat containing 3 | Zelden (1–4%) | In 1 aandoening |
| MAN1B1mannosidase alpha class 1B member 1 | Zelden (1–4%) | In 1 aandoening |
| PAHphenylalanine hydroxylase | 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 |
| 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 2 aandoeningen |
| RPS29ribosomal protein S29 | Zelden (1–4%) | In 1 aandoening |
| RPS7ribosomal protein S7 | Zelden (1–4%) | In 1 aandoening |
| TSR2TSR2 ribosome maturation factor | Zelden (1–4%) | In 1 aandoening |
| ZEB2zinc finger E-box binding homeobox 2 | Zelden (1–4%) | In 1 aandoening |
| AHI1Abelson helper integration site 1 | Niet vastgelegd | In 1 aandoening |
| ALDOAaldolase, fructose-bisphosphate A | Niet vastgelegd | In 1 aandoening |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Niet vastgelegd | In 1 aandoening |
| ATN1atrophin 1 | Niet vastgelegd | In 1 aandoening |
| B9D2B9 domain containing 2 | Niet vastgelegd | In 1 aandoening |
| BMPERBMP binding endothelial regulator | Niet vastgelegd | In 1 aandoening |
| BRAT1BRCA1 associated ATM activator 1 | Niet vastgelegd | In 1 aandoening |
| CASKcalcium/calmodulin dependent serine protein kinase | Niet vastgelegd | In 1 aandoening |
| CHD3chromodomain helicase DNA binding protein 3 | Niet vastgelegd | In 1 aandoening |
| CHD4chromodomain helicase DNA binding protein 4 | Niet vastgelegd | In 1 aandoening |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Niet vastgelegd | In 1 aandoening |
| CHRNDcholinergic receptor nicotinic delta subunit | Niet vastgelegd | In 1 aandoening |
| COL11A1collagen type XI alpha 1 chain | Niet vastgelegd | In 1 aandoening |
| DDR2discoidin domain receptor tyrosine kinase 2 | Niet vastgelegd | In 1 aandoening |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Niet vastgelegd | In 1 aandoening |
| DOCK3dedicator of cytokinesis 3 | Niet vastgelegd | In 1 aandoening |
| EEDembryonic ectoderm development | Niet vastgelegd | In 1 aandoening |
| EXOSC9exosome component 9 | Niet vastgelegd | In 1 aandoening |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Niet vastgelegd | In 1 aandoening |
| GLIS3GLIS family zinc finger 3 | Niet vastgelegd | In 1 aandoening |
| GPC6glypican 6 | Niet vastgelegd | In 1 aandoening |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Niet vastgelegd | In 1 aandoening |
| INPP5Einositol polyphosphate-5-phosphatase E | Niet vastgelegd | In 1 aandoening |
| LMBRD1LMBR1 domain containing 1 | Niet vastgelegd | In 1 aandoening |
| MAN2B1mannosidase alpha class 2B member 1 | Niet vastgelegd | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Niet vastgelegd | In 1 aandoening |
| NANSN-acetylneuraminate synthase | Niet vastgelegd | In 1 aandoening |
| NOTCH2notch receptor 2 | Niet vastgelegd | In 1 aandoening |
| NRASNRAS proto-oncogene, GTPase | Niet vastgelegd | In 1 aandoening |
| OSGEPO-sialoglycoprotein endopeptidase | Niet vastgelegd | In 1 aandoening |
| PBX1PBX homeobox 1 | Niet vastgelegd | In 1 aandoening |
| PDHXpyruvate dehydrogenase complex component X | Niet vastgelegd | In 1 aandoening |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Niet vastgelegd | In 3 aandoeningen |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Niet vastgelegd | In 1 aandoening |
| PUS7pseudouridine synthase 7 | Niet vastgelegd | In 1 aandoening |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Niet vastgelegd | In 1 aandoening |
| RALARAS like proto-oncogene A | Niet vastgelegd | In 1 aandoening |
| SLC17A5solute carrier family 17 member 5 | Niet vastgelegd | In 1 aandoening |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Niet vastgelegd | In 1 aandoening |
| SNX14sorting nexin 14 | Niet vastgelegd | In 1 aandoening |
| SOX18SRY-box transcription factor 18 | Niet vastgelegd | In 1 aandoening |
| SOX5SRY-box transcription factor 5 | Niet vastgelegd | In 1 aandoening |
| SPRED1sprouty related EVH1 domain containing 1 | Niet vastgelegd | In 1 aandoening |
| SRCAPSnf2 related CREBBP activator protein | Niet vastgelegd | In 1 aandoening |
| TCF20transcription factor 20 | Niet vastgelegd | In 1 aandoening |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Niet vastgelegd | In 1 aandoening |
| TMEM237transmembrane protein 237 | Niet vastgelegd | In 1 aandoening |
| TRRAPtransformation/transcription domain associated protein | Niet vastgelegd | In 1 aandoening |
| UNC80unc-80 subunit of NALCN channel complex | 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 |
| WNT7AWnt family member 7A | Niet vastgelegd | In 1 aandoening |
| ZMIZ1zinc finger MIZ-type containing 1 | Niet vastgelegd | In 1 aandoening |
| ZNF469zinc finger protein 469 | 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.
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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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