Kenmerk
Double-Jointed
Klinische naam: Joint hypermobility
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Samenvatting
- Ook bekend als
- Flexible joints, Increased mobility of joints, Joints move beyond expected range of motion, Lax joints, Loose-jointedness, Extensible joints, Hyperextensible joints, Increased joint mobility, Joint hyperextensibility, Joint hyperflexibility, Joint hyperlaxity, Joint laxity
- Lichaamssysteem
- Abnormality of the musculoskeletal system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Double-Jointed 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 |
|---|---|---|
| ACANaggrecan | Altijd | In 2 aandoeningen |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Altijd | In 2 aandoeningen |
| AEBP1AE binding protein 1 | Altijd | In 2 aandoeningen |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Altijd | In 4 aandoeningen |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Altijd | In 1 aandoening |
| B3GALT6beta-1,3-galactosyltransferase 6 | Altijd | In 3 aandoeningen |
| BMP1bone morphogenetic protein 1 | Altijd | In 1 aandoening |
| CANT1calcium activated nucleotidase 1 | Altijd | In 2 aandoeningen |
| CBLCbl proto-oncogene | Altijd | In 2 aandoeningen |
| CCNQcyclin Q | Altijd | In 1 aandoening |
| CDK10cyclin dependent kinase 10 | Altijd | In 1 aandoening |
| CILK1ciliogenesis associated kinase 1 | Altijd | In 1 aandoening |
| COL12A1collagen type XII alpha 1 chain | Altijd | In 3 aandoeningen |
| COL1A1collagen type I alpha 1 chain | Altijd | In 4 aandoeningen |
| COL1A2collagen type I alpha 2 chain | Altijd | In 4 aandoeningen |
| COL3A1collagen type III alpha 1 chain | Altijd | In 4 aandoeningen |
| COL5A2collagen type V alpha 2 chain | Altijd | In 1 aandoening |
| COL6A1collagen type VI alpha 1 chain | Altijd | In 2 aandoeningen |
| CREB3L1cAMP responsive element binding protein 3 like 1 | Altijd | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Altijd | In 4 aandoeningen |
| DCPSdecapping enzyme, scavenger | Altijd | In 1 aandoening |
| DNM1Ldynamin 1L | Altijd | In 1 aandoening |
| DSEdermatan sulfate epimerase | Altijd | In 1 aandoening |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Altijd | In 1 aandoening |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altijd | In 1 aandoening |
| EN1engrailed homeobox 1 | Altijd | In 1 aandoening |
| EP300EP300 lysine acetyltransferase | Altijd | In 3 aandoeningen |
| EXOC6Bexocyst complex component 6B | Altijd | In 1 aandoening |
| FARSAphenylalanyl-tRNA synthetase subunit alpha | Altijd | In 1 aandoening |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Altijd | In 1 aandoening |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Altijd | In 2 aandoeningen |
| FKBP10FKBP prolyl isomerase 10 | Altijd | In 2 aandoeningen |
| GINS3GINS complex subunit 3 | Altijd | In 1 aandoening |
| GTPBP2GTP binding protein 2 | Altijd | In 1 aandoening |
| GZF1GDNF inducible zinc finger protein 1 | Altijd | In 1 aandoening |
| HEPHL1hephaestin like 1 | Altijd | In 1 aandoening |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Altijd | In 2 aandoeningen |
| IARS1isoleucyl-tRNA synthetase 1 | Altijd | In 2 aandoeningen |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| IFT140intraflagellar transport 140 | Altijd | In 1 aandoening |
Toon nog 475 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| IFT56intraflagellar transport 56 | Altijd | In 1 aandoening |
| IL1RAPL1interleukin 1 receptor accessory protein like 1 | Altijd | In 1 aandoening |
| KCNK3potassium two pore domain channel subfamily K member 3 | Altijd | In 1 aandoening |
| KDELR2KDEL endoplasmic reticulum protein retention receptor 2 | Altijd | In 1 aandoening |
| LRRC7leucine rich repeat containing 7 | Altijd | In 1 aandoening |
| LTBP4latent transforming growth factor beta binding protein 4 | Altijd | In 1 aandoening |
| 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 3 aandoeningen |
| NOTCH3notch receptor 3 | Altijd | In 2 aandoeningen |
| NSD1nuclear receptor binding SET domain protein 1 | Altijd | In 3 aandoeningen |
| PEX2peroxisomal biogenesis factor 2 | Altijd | In 1 aandoening |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Altijd | In 1 aandoening |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Altijd | In 2 aandoeningen |
| POLR1ARNA polymerase I subunit A | Altijd | In 1 aandoening |
| PPFIA3PPFI scaffold protein A3 | Altijd | In 1 aandoening |
| PRDM5PR/SET domain 5 | Altijd | In 2 aandoeningen |
| PTDSS1phosphatidylserine synthase 1 | Altijd | In 2 aandoeningen |
| PUM1pumilio RNA binding family member 1 | Altijd | In 1 aandoening |
| PYCR1pyrroline-5-carboxylate reductase 1 | Altijd | In 2 aandoeningen |
| RAP1BRAP1B, member of RAS oncogene family | Altijd | In 1 aandoening |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Altijd | In 1 aandoening |
| RIN2Ras and Rab interactor 2 | Altijd | In 2 aandoeningen |
| RMP64ribonuclease MRP subunit p64 | Altijd | In 1 aandoening |
| SCAF4SR-related CTD associated factor 4 | Altijd | In 1 aandoening |
| SCARF2scavenger receptor class F member 2 | Altijd | In 1 aandoening |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Altijd | In 1 aandoening |
| SOBPsine oculis binding protein homolog | Altijd | In 1 aandoening |
| SPARCsecreted protein acidic and cysteine rich | Altijd | In 1 aandoening |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Altijd | In 2 aandoeningen |
| TAF4TATA-box binding protein associated factor 4 | Altijd | In 1 aandoening |
| TENT5Aterminal nucleotidyltransferase 5A | Altijd | In 1 aandoening |
| TGDSTDP-glucose 4,6-dehydratase | Altijd | In 2 aandoeningen |
| THBS2thrombospondin 2 | Altijd | In 1 aandoening |
| TMEM165transmembrane protein 165 | Altijd | In 1 aandoening |
| TNXBtenascin XB | Altijd | In 2 aandoeningen |
| TRIP4thyroid hormone receptor interactor 4 | Altijd | In 2 aandoeningen |
| VPS13Bvacuolar protein sorting 13 homolog B | Altijd | In 2 aandoeningen |
| VPS37AVPS37A subunit of ESCRT-I | Altijd | In 2 aandoeningen |
| WDR19WD repeat domain 19 | Altijd | In 2 aandoeningen |
| WSB2WD repeat and SOCS box containing 2 | Altijd | In 1 aandoening |
| ZFXzinc finger protein X-linked | Altijd | In 1 aandoening |
| ZMYM3zinc finger MYM-type containing 3 | Altijd | In 1 aandoening |
| ADAMTSL2ADAMTS like 2 | Heel vaak (80–99%) | In 1 aandoening |
| AHDC1AT-hook DNA binding motif containing 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| ANTXR1ANTXR cell adhesion molecule 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Heel vaak (80–99%) | In 2 aandoeningen |
| ATP7AATPase copper transporting alpha | Heel vaak (80–99%) | In 4 aandoeningen |
| BCL11ABCL11 transcription factor A | Heel vaak (80–99%) | In 1 aandoening |
| BGNbiglycan | Heel vaak (80–99%) | In 2 aandoeningen |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| CDC45cell division cycle 45 | Heel vaak (80–99%) | In 2 aandoeningen |
| CDC6cell division cycle 6 | Heel vaak (80–99%) | In 1 aandoening |
| CDT1chromatin licensing and DNA replication factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| COMPcartilage oligomeric matrix protein | Heel vaak (80–99%) | In 2 aandoeningen |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CUL7cullin 7 | Heel vaak (80–99%) | In 2 aandoeningen |
| DLK1delta like non-canonical Notch ligand 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| FGFR3fibroblast growth factor receptor 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| FKBP14FKBP prolyl isomerase 14 | Heel vaak (80–99%) | In 1 aandoening |
| FLNAfilamin A | Heel vaak (80–99%) | In 5 aandoeningen |
| FLNBfilamin B | Heel vaak (80–99%) | In 2 aandoeningen |
| FMR1fragile X messenger ribonucleoprotein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| GANgigaxonin | Heel vaak (80–99%) | In 1 aandoening |
| GMNNgeminin DNA replication inhibitor | Heel vaak (80–99%) | In 1 aandoening |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Heel vaak (80–99%) | In 1 aandoening |
| GORABgolgin, RAB6 interacting | Heel vaak (80–99%) | In 1 aandoening |
| KIF22kinesin family member 22 | Heel vaak (80–99%) | In 2 aandoeningen |
| KRASKRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 1 aandoening |
| LZTR1leucine zipper like post translational regulator 1 | Heel vaak (80–99%) | In 1 aandoening |
| MEG3maternally expressed 3 | Heel vaak (80–99%) | In 3 aandoeningen |
| MRASmuscle RAS oncogene homolog | Heel vaak (80–99%) | In 1 aandoening |
| NFIXnuclear factor I X | Heel vaak (80–99%) | In 1 aandoening |
| NKAPNFKB activating protein | Heel vaak (80–99%) | In 1 aandoening |
| NRASNRAS proto-oncogene, GTPase | Heel vaak (80–99%) | In 1 aandoening |
| ORC1origin recognition complex subunit 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| ORC4origin recognition complex subunit 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| ORC6origin recognition complex subunit 6 | Heel vaak (80–99%) | In 1 aandoening |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Heel vaak (80–99%) | In 1 aandoening |
| PUF60poly(U) binding splicing factor 60 | Heel vaak (80–99%) | In 2 aandoeningen |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Heel vaak (80–99%) | In 1 aandoening |
| RASA2RAS p21 protein activator 2 | Heel vaak (80–99%) | In 1 aandoening |
| RIT1Ras like without CAAX 1 | Heel vaak (80–99%) | In 1 aandoening |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Heel vaak (80–99%) | In 4 aandoeningen |
| RPS6KA3ribosomal protein S6 kinase A3 | Heel vaak (80–99%) | In 1 aandoening |
| RRASRAS related | Heel vaak (80–99%) | In 1 aandoening |
| RRAS2RAS related 2 | Heel vaak (80–99%) | In 1 aandoening |
| RTL1retrotransposon Gag like 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| SLC2A10solute carrier family 2 member 10 | Heel vaak (80–99%) | In 2 aandoeningen |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| SPRED2sprouty related EVH1 domain containing 2 | Heel vaak (80–99%) | In 1 aandoening |
| TGFBR2transforming growth factor beta receptor 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| TRIP11thyroid hormone receptor interactor 11 | Heel vaak (80–99%) | In 2 aandoeningen |
| XYLT1xylosyltransferase 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| ZNF469zinc finger protein 469 | Heel vaak (80–99%) | In 2 aandoeningen |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Vaak (30–79%) | In 1 aandoening |
| ADGRL1adhesion G protein-coupled receptor L1 | Vaak (30–79%) | In 1 aandoening |
| ADNPactivity dependent neuroprotector homeobox | Vaak (30–79%) | In 2 aandoeningen |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Vaak (30–79%) | In 2 aandoeningen |
| ANKRD17ankyrin repeat domain 17 | Vaak (30–79%) | In 1 aandoening |
| ANKRD55ankyrin repeat domain 55 | Vaak (30–79%) | In 1 aandoening |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Vaak (30–79%) | In 1 aandoening |
| APC2APC regulator of Wnt signaling pathway 2 | Vaak (30–79%) | In 1 aandoening |
| ARCN1archain 1 coat protein complex I subunit delta | Vaak (30–79%) | In 1 aandoening |
| ARF1ARF GTPase 1 | Vaak (30–79%) | In 1 aandoening |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Vaak (30–79%) | In 1 aandoening |
| ARID1AAT-rich interaction domain 1A | 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 |
| ASPHaspartate beta-hydroxylase | Vaak (30–79%) | In 1 aandoening |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Vaak (30–79%) | In 1 aandoening |
| ATRATR checkpoint kinase | Vaak (30–79%) | In 1 aandoening |
| ATRIPATR interacting protein | Vaak (30–79%) | In 1 aandoening |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Vaak (30–79%) | In 1 aandoening |
| C1Rcomplement C1r | Vaak (30–79%) | In 2 aandoeningen |
| C1Scomplement C1s | Vaak (30–79%) | In 2 aandoeningen |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Vaak (30–79%) | In 2 aandoeningen |
| CD247CD247 molecule | Vaak (30–79%) | In 1 aandoening |
| CDK13cyclin dependent kinase 13 | Vaak (30–79%) | In 1 aandoening |
| CENPEcentromere protein E | Vaak (30–79%) | In 1 aandoening |
| CEP152centrosomal protein 152 | Vaak (30–79%) | In 1 aandoening |
| CEP295centrosomal protein 295 | Vaak (30–79%) | In 1 aandoening |
| CEP63centrosomal protein 63 | 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 |
| CHST3carbohydrate sulfotransferase 3 | Vaak (30–79%) | In 1 aandoening |
| COL2A1collagen type II alpha 1 chain | Vaak (30–79%) | In 2 aandoeningen |
| COL5A1collagen type V alpha 1 chain | Vaak (30–79%) | In 2 aandoeningen |
| COL9A1collagen type IX alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| COL9A2collagen type IX alpha 2 chain | Vaak (30–79%) | In 1 aandoening |
| COL9A3collagen type IX alpha 3 chain | Vaak (30–79%) | In 1 aandoening |
| CPAPcentrosome assembly and centriole elongation protein | Vaak (30–79%) | In 1 aandoening |
| DBHdopamine beta-hydroxylase | Vaak (30–79%) | In 1 aandoening |
| DDB1damage specific DNA binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| DEAF1DEAF1 transcription factor | Vaak (30–79%) | In 1 aandoening |
| DHX30DExH-box helicase 30 | Vaak (30–79%) | In 1 aandoening |
| DLG4discs large MAGUK scaffold protein 4 | Vaak (30–79%) | In 1 aandoening |
| DNA2DNA replication helicase/nuclease 2 | Vaak (30–79%) | In 1 aandoening |
| DPF2double PHD fingers 2 | Vaak (30–79%) | In 1 aandoening |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Vaak (30–79%) | In 2 aandoeningen |
| EFNB1ephrin B1 | Vaak (30–79%) | In 2 aandoeningen |
| EIF5Aeukaryotic translation initiation factor 5A | Vaak (30–79%) | In 1 aandoening |
| ELNelastin | Vaak (30–79%) | In 3 aandoeningen |
| EMILIN1elastin microfibril interfacer 1 | Vaak (30–79%) | In 1 aandoening |
| ERMARDER membrane associated RNA degradation | Vaak (30–79%) | In 2 aandoeningen |
| EXT1exostosin glycosyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| FBLN5fibulin 5 | Vaak (30–79%) | In 4 aandoeningen |
| FBN1fibrillin 1 | Vaak (30–79%) | In 4 aandoeningen |
| FERRY3FERRY endosomal RAB5 effector complex subunit 3 | Vaak (30–79%) | In 1 aandoening |
| H4C9H4 clustered histone 9 | Vaak (30–79%) | In 1 aandoening |
| HDAC4histone deacetylase 4 | Vaak (30–79%) | In 1 aandoening |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Vaak (30–79%) | In 1 aandoening |
| HOXD13homeobox D13 | Vaak (30–79%) | In 1 aandoening |
| HRASHRas proto-oncogene, GTPase | Vaak (30–79%) | In 1 aandoening |
| IFT122intraflagellar transport 122 | Vaak (30–79%) | In 2 aandoeningen |
| IFT43intraflagellar transport 43 | Vaak (30–79%) | In 2 aandoeningen |
| IFT52intraflagellar transport 52 | Vaak (30–79%) | In 1 aandoening |
| IL2RAinterleukin 2 receptor subunit alpha | Vaak (30–79%) | In 1 aandoening |
| IL2RBinterleukin 2 receptor subunit beta | Vaak (30–79%) | In 1 aandoening |
| IL6STinterleukin 6 cytokine family signal transducer | Vaak (30–79%) | In 1 aandoening |
| IPO8importin 8 | Vaak (30–79%) | In 2 aandoeningen |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| KAT6Blysine acetyltransferase 6B | Vaak (30–79%) | In 1 aandoening |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Vaak (30–79%) | In 1 aandoening |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Vaak (30–79%) | In 1 aandoening |
| KDM1Alysine demethylase 1A | Vaak (30–79%) | In 1 aandoening |
| KDM3Blysine demethylase 3B | Vaak (30–79%) | In 1 aandoening |
| KDM6Alysine demethylase 6A | Vaak (30–79%) | In 3 aandoeningen |
| KDM6Blysine demethylase 6B | Vaak (30–79%) | In 1 aandoening |
| KMT2Dlysine methyltransferase 2D | Vaak (30–79%) | In 2 aandoeningen |
| LBRlamin B receptor | Vaak (30–79%) | In 1 aandoening |
| LONP1lon peptidase 1, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| LOXL3lysyl oxidase like 3 | Vaak (30–79%) | In 1 aandoening |
| LRP5LDL receptor related protein 5 | Vaak (30–79%) | In 2 aandoeningen |
| LTBP1latent transforming growth factor beta binding protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| MAN1B1mannosidase alpha class 1B member 1 | Vaak (30–79%) | In 2 aandoeningen |
| MAP1Bmicrotubule associated protein 1B | Vaak (30–79%) | In 1 aandoening |
| MAP2K2mitogen-activated protein kinase kinase 2 | Vaak (30–79%) | In 1 aandoening |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Vaak (30–79%) | In 1 aandoening |
| MKS1MKS transition zone complex subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| MLXIPLMLX interacting protein like | Vaak (30–79%) | In 1 aandoening |
| NAE1NEDD8 activating enzyme E1 subunit 1 | Vaak (30–79%) | In 1 aandoening |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Vaak (30–79%) | In 1 aandoening |
| NF1neurofibromin 1 | Vaak (30–79%) | In 1 aandoening |
| NINninein | Vaak (30–79%) | In 1 aandoening |
| NOTCH2notch receptor 2 | Vaak (30–79%) | In 2 aandoeningen |
| NPR2natriuretic peptide receptor 2 | Vaak (30–79%) | In 2 aandoeningen |
| NPR3natriuretic peptide receptor 3 | Vaak (30–79%) | In 1 aandoening |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Vaak (30–79%) | In 2 aandoeningen |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Vaak (30–79%) | In 1 aandoening |
| NUP85nucleoporin 85 | Vaak (30–79%) | In 1 aandoening |
| OBSL1obscurin like cytoskeletal adaptor 1 | Vaak (30–79%) | In 1 aandoening |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Vaak (30–79%) | In 2 aandoeningen |
| P3H1prolyl 3-hydroxylase 1 | Vaak (30–79%) | In 1 aandoening |
| PCGF2polycomb group ring finger 2 | Vaak (30–79%) | In 1 aandoening |
| PCNTpericentrin | Vaak (30–79%) | In 2 aandoeningen |
| PGM2L1phosphoglucomutase 2 like 1 | Vaak (30–79%) | In 1 aandoening |
| PGM3phosphoglucomutase 3 | Vaak (30–79%) | In 1 aandoening |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Vaak (30–79%) | In 1 aandoening |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Vaak (30–79%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Vaak (30–79%) | In 2 aandoeningen |
| PLK4polo like kinase 4 | Vaak (30–79%) | In 1 aandoening |
| PMM2phosphomannomutase 2 | Vaak (30–79%) | In 1 aandoening |
| POLR3ARNA polymerase III subunit A | Vaak (30–79%) | In 1 aandoening |
| POLR3GLRNA polymerase III subunit GL | Vaak (30–79%) | In 1 aandoening |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Vaak (30–79%) | In 1 aandoening |
| PTCH1patched 1 | Vaak (30–79%) | In 1 aandoening |
| PTENphosphatase and tensin homolog | Vaak (30–79%) | In 2 aandoeningen |
| PTHLHparathyroid hormone like hormone | Vaak (30–79%) | In 1 aandoening |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Vaak (30–79%) | In 1 aandoening |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Vaak (30–79%) | In 1 aandoening |
| PUS1pseudouridine synthase 1 | Vaak (30–79%) | In 1 aandoening |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Vaak (30–79%) | In 1 aandoening |
| RAD21RAD21 cohesin complex component | Vaak (30–79%) | In 1 aandoening |
| RAI1retinoic acid induced 1 | Vaak (30–79%) | In 1 aandoening |
| RBBP8RB binding protein 8, endonuclease | Vaak (30–79%) | In 1 aandoening |
| RECQLRecQ like helicase | Vaak (30–79%) | In 1 aandoening |
| RNU5B-1RNA, U5B small nuclear 1 | Vaak (30–79%) | In 1 aandoening |
| ROR2ROR family WNT receptor 2 | Vaak (30–79%) | In 1 aandoening |
| RUSC2RUN and SH3 domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| RYR1ryanodine receptor 1 | Vaak (30–79%) | In 5 aandoeningen |
| SEC23ASEC23 homolog A, COPII component | Vaak (30–79%) | In 2 aandoeningen |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Vaak (30–79%) | In 1 aandoening |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Vaak (30–79%) | In 1 aandoening |
| SIN3ASIN3 transcription regulator family member A | Vaak (30–79%) | In 3 aandoeningen |
| SIN3BSIN3 transcription regulator family member B | Vaak (30–79%) | In 1 aandoening |
| SKISKI proto-oncogene | Vaak (30–79%) | In 2 aandoeningen |
| SLC10A7solute carrier family 10 member 7 | Vaak (30–79%) | In 1 aandoening |
| SLC35B2solute carrier family 35 member B2 | Vaak (30–79%) | In 1 aandoening |
| SMAD2SMAD family member 2 | Vaak (30–79%) | In 2 aandoeningen |
| SMAD3SMAD family member 3 | Vaak (30–79%) | In 3 aandoeningen |
| 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 2 aandoeningen |
| 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 |
| SONSON DNA and RNA binding protein | Vaak (30–79%) | In 2 aandoeningen |
| SOX11SRY-box transcription factor 11 | Vaak (30–79%) | In 1 aandoening |
| SOX4SRY-box transcription factor 4 | Vaak (30–79%) | In 1 aandoening |
| SPARTspartin | Vaak (30–79%) | In 1 aandoening |
| SRCAPSnf2 related CREBBP activator protein | Vaak (30–79%) | In 2 aandoeningen |
| STAG1STAG1 cohesin complex component | Vaak (30–79%) | In 2 aandoeningen |
| STAT3signal transducer and activator of transcription 3 | Vaak (30–79%) | In 2 aandoeningen |
| STAT4signal transducer and activator of transcription 4 | Vaak (30–79%) | In 1 aandoening |
| TAF1TATA-box binding protein associated factor 1 | Vaak (30–79%) | In 2 aandoeningen |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Vaak (30–79%) | In 1 aandoening |
| TCF12transcription factor 12 | Vaak (30–79%) | In 1 aandoening |
| TGFB2transforming growth factor beta 2 | Vaak (30–79%) | In 2 aandoeningen |
| TGFB3transforming growth factor beta 3 | Vaak (30–79%) | In 2 aandoeningen |
| TGFBR1transforming growth factor beta receptor 1 | Vaak (30–79%) | In 2 aandoeningen |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Vaak (30–79%) | In 1 aandoening |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Vaak (30–79%) | In 1 aandoening |
| TRAIPTRAF interacting protein | Vaak (30–79%) | In 1 aandoening |
| TRIM33tripartite motif containing 33 | Vaak (30–79%) | In 1 aandoening |
| TRMT10AtRNA methyltransferase 10A | Vaak (30–79%) | In 2 aandoeningen |
| TRPS1transcriptional repressor GATA binding 1 | Vaak (30–79%) | In 1 aandoening |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Vaak (30–79%) | In 1 aandoening |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Vaak (30–79%) | In 1 aandoening |
| WASF1WASP family member 1 | Vaak (30–79%) | In 1 aandoening |
| WDR35WD repeat domain 35 | Vaak (30–79%) | In 2 aandoeningen |
| WNT1Wnt family member 1 | Vaak (30–79%) | In 1 aandoening |
| YARS1tyrosyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| ZBTB20zinc finger and BTB domain containing 20 | Vaak (30–79%) | In 1 aandoening |
| ZDHHC9zDHHC palmitoyltransferase 9 | Vaak (30–79%) | In 1 aandoening |
| ZMIZ1zinc finger MIZ-type containing 1 | Vaak (30–79%) | In 1 aandoening |
| ABCC6ATP binding cassette subfamily C member 6 | Soms (5–29%) | In 1 aandoening |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Soms (5–29%) | In 1 aandoening |
| ARL6ARF like GTPase 6 | Soms (5–29%) | In 1 aandoening |
| ARVCFARVCF delta catenin family member | Soms (5–29%) | In 1 aandoening |
| B4GALT7beta-1,4-galactosyltransferase 7 | Soms (5–29%) | In 2 aandoeningen |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Soms (5–29%) | In 1 aandoening |
| BBIP1BBSome interacting protein 1 | Soms (5–29%) | In 1 aandoening |
| BBS1Bardet-Biedl syndrome 1 | Soms (5–29%) | In 1 aandoening |
| BBS10Bardet-Biedl syndrome 10 | Soms (5–29%) | In 1 aandoening |
| BBS12Bardet-Biedl syndrome 12 | Soms (5–29%) | In 1 aandoening |
| 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 |
| BBS9Bardet-Biedl syndrome 9 | Soms (5–29%) | In 1 aandoening |
| BCRBCR activator of RhoGEF and GTPase | Soms (5–29%) | In 1 aandoening |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Soms (5–29%) | In 1 aandoening |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Soms (5–29%) | In 1 aandoening |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Soms (5–29%) | In 1 aandoening |
| CDC42BPBCDC42 binding protein kinase beta | Soms (5–29%) | In 1 aandoening |
| CEP104centrosomal protein 104 | Soms (5–29%) | In 1 aandoening |
| CEP19centrosomal protein 19 | Soms (5–29%) | In 1 aandoening |
| CEP290centrosomal protein 290 | Soms (5–29%) | In 1 aandoening |
| CFAP418cilia and flagella associated protein 418 | Soms (5–29%) | In 1 aandoening |
| CLIP2CAP-Gly domain containing linker protein 2 | 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 2 aandoeningen |
| COL6A2collagen type VI alpha 2 chain | Soms (5–29%) | In 1 aandoening |
| COL6A3collagen type VI alpha 3 chain | Soms (5–29%) | In 1 aandoening |
| COMTcatechol-O-methyltransferase | Soms (5–29%) | In 1 aandoening |
| CRKLCRK like proto-oncogene, adaptor protein | Soms (5–29%) | In 1 aandoening |
| CRTAPcartilage associated protein | Soms (5–29%) | In 1 aandoening |
| CSNK2A1casein kinase 2 alpha 1 | Soms (5–29%) | In 1 aandoening |
| CTNND2catenin delta 2 | Soms (5–29%) | In 1 aandoening |
| CUL4Bcullin 4B | Soms (5–29%) | In 2 aandoeningen |
| DDRGK1DDRGK domain containing 1 | Soms (5–29%) | In 2 aandoeningen |
| DDX3XDEAD-box helicase 3 X-linked | Soms (5–29%) | In 1 aandoening |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Soms (5–29%) | In 1 aandoening |
| DNMT3ADNA methyltransferase 3 alpha | Soms (5–29%) | In 1 aandoening |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Soms (5–29%) | In 1 aandoening |
| DPYDdihydropyrimidine dehydrogenase | Soms (5–29%) | In 1 aandoening |
| DPYSL5dihydropyrimidinase like 5 | Soms (5–29%) | In 1 aandoening |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Soms (5–29%) | In 1 aandoening |
| EHMT1euchromatic histone lysine methyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| EIF4Heukaryotic translation initiation factor 4H | Soms (5–29%) | In 1 aandoening |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Soms (5–29%) | In 1 aandoening |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Soms (5–29%) | In 1 aandoening |
| FBXL3F-box and leucine rich repeat protein 3 | Soms (5–29%) | In 1 aandoening |
| FBXO11F-box protein 11 | Soms (5–29%) | In 1 aandoening |
| FBXO22F-box protein 22 | Soms (5–29%) | In 1 aandoening |
| FILIP1filamin A interacting protein 1 | Soms (5–29%) | In 1 aandoening |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Soms (5–29%) | In 1 aandoening |
| FOCADfocadhesin | 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 |
| GDF5growth differentiation factor 5 | Soms (5–29%) | In 1 aandoening |
| GFPT1glutamine--fructose-6-phosphate transaminase 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 |
| GMPPBGDP-mannose pyrophosphorylase B | Soms (5–29%) | In 1 aandoening |
| GNB1G protein subunit beta 1 | Soms (5–29%) | In 1 aandoening |
| GNB2G protein subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| GP1BBglycoprotein Ib platelet subunit beta | Soms (5–29%) | In 1 aandoening |
| GPC4glypican 4 | Soms (5–29%) | In 1 aandoening |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Soms (5–29%) | In 1 aandoening |
| GTF2Igeneral transcription factor IIi | Soms (5–29%) | In 1 aandoening |
| GTF2IRD1GTF2I repeat domain containing 1 | Soms (5–29%) | In 1 aandoening |
| GTF2IRD2GTF2I repeat domain containing 2 | 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 |
| HIRAhistone cell cycle regulator | Soms (5–29%) | In 1 aandoening |
| HNF1BHNF1 homeobox B | Soms (5–29%) | In 1 aandoening |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Soms (5–29%) | In 1 aandoening |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Soms (5–29%) | In 2 aandoeningen |
| HYMAIhydatidiform mole associated and imprinted | Soms (5–29%) | In 1 aandoening |
| IFITM5interferon induced transmembrane protein 5 | Soms (5–29%) | In 1 aandoening |
| IFT172intraflagellar transport 172 | Soms (5–29%) | In 1 aandoening |
| IFT27intraflagellar transport 27 | Soms (5–29%) | In 1 aandoening |
| IFT74intraflagellar transport 74 | Soms (5–29%) | In 1 aandoening |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Soms (5–29%) | In 1 aandoening |
| JARID2jumonji and AT-rich interaction domain containing 2 | Soms (5–29%) | In 1 aandoening |
| JMJD1Cjumonji domain containing 1C | Soms (5–29%) | In 1 aandoening |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Soms (5–29%) | In 2 aandoeningen |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Soms (5–29%) | In 1 aandoening |
| KMT2Alysine methyltransferase 2A | Soms (5–29%) | In 1 aandoening |
| LIMK1LIM domain kinase 1 | Soms (5–29%) | In 1 aandoening |
| LMNAlamin A/C | Soms (5–29%) | In 1 aandoening |
| LMNB2lamin B2 | Soms (5–29%) | In 1 aandoening |
| LOXlysyl oxidase | Soms (5–29%) | In 1 aandoening |
| LZTFL1leucine zipper transcription factor like 1 | Soms (5–29%) | In 1 aandoening |
| MAMLD1mastermind like domain containing 1 | Soms (5–29%) | In 1 aandoening |
| MAN2B1mannosidase alpha class 2B member 1 | Soms (5–29%) | In 1 aandoening |
| MAPK1mitogen-activated protein kinase 1 | Soms (5–29%) | In 2 aandoeningen |
| MARK2microtubule affinity regulating kinase 2 | Soms (5–29%) | In 1 aandoening |
| MAU2MAU2 sister chromatid cohesion factor | Soms (5–29%) | In 1 aandoening |
| METTL27methyltransferase like 27 | Soms (5–29%) | In 1 aandoening |
| MICU1mitochondrial calcium uptake 1 | Soms (5–29%) | In 1 aandoening |
| MKKSMKKS centrosomal shuttling protein | Soms (5–29%) | In 1 aandoening |
| MRE11MRE11 double strand break repair nuclease | Soms (5–29%) | In 1 aandoening |
| MSL2MSL complex subunit 2 | Soms (5–29%) | In 1 aandoening |
| MTM1myotubularin 1 | Soms (5–29%) | In 1 aandoening |
| NANSN-acetylneuraminate synthase | Soms (5–29%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Soms (5–29%) | In 1 aandoening |
| NGLY1N-glycanase 1 | Soms (5–29%) | In 1 aandoening |
| NONOnon-POU domain containing octamer binding | Soms (5–29%) | In 2 aandoeningen |
| NPHP1nephrocystin 1 | Soms (5–29%) | In 1 aandoening |
| P4HBprolyl 4-hydroxylase subunit beta | Soms (5–29%) | In 1 aandoening |
| PAK2p21 (RAC1) activated kinase 2 | Soms (5–29%) | In 1 aandoening |
| PAX2paired box 2 | Soms (5–29%) | In 2 aandoeningen |
| PDE4Dphosphodiesterase 4D | Soms (5–29%) | In 1 aandoening |
| PHF6PHD finger protein 6 | Soms (5–29%) | In 1 aandoening |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Soms (5–29%) | In 1 aandoening |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Soms (5–29%) | In 1 aandoening |
| PLAGL1PLAG1 like zinc finger 1 | Soms (5–29%) | In 1 aandoening |
| POGZpogo transposable element derived with ZNF domain | Soms (5–29%) | In 2 aandoeningen |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Soms (5–29%) | In 1 aandoening |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Soms (5–29%) | In 2 aandoeningen |
| PYCR2pyrroline-5-carboxylate reductase 2 | Soms (5–29%) | In 1 aandoening |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Soms (5–29%) | In 1 aandoening |
| RAC1Rac family small GTPase 1 | Soms (5–29%) | In 2 aandoeningen |
| RFC2replication factor C subunit 2 | Soms (5–29%) | In 1 aandoening |
| RFX7regulatory factor X7 | Soms (5–29%) | In 1 aandoening |
| RNF125ring finger protein 125 | Soms (5–29%) | In 1 aandoening |
| RNF13ring finger protein 13 | Soms (5–29%) | In 1 aandoening |
| RNU2-2RNA, U2 small nuclear 2 | Soms (5–29%) | In 1 aandoening |
| RREB1ras responsive element binding protein 1 | Soms (5–29%) | In 1 aandoening |
| SATB1SATB homeobox 1 | Soms (5–29%) | In 1 aandoening |
| SATB2SATB homeobox 2 | Soms (5–29%) | In 2 aandoeningen |
| 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 |
| SEC24DSEC24 homolog D, COPII component | Soms (5–29%) | In 1 aandoening |
| SEMA5Asemaphorin 5A | Soms (5–29%) | In 1 aandoening |
| SETSET nuclear proto-oncogene | Soms (5–29%) | In 1 aandoening |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Soms (5–29%) | In 1 aandoening |
| SLC26A2solute carrier family 26 member 2 | Soms (5–29%) | In 1 aandoening |
| SLC39A8solute carrier family 39 member 8 | Soms (5–29%) | In 1 aandoening |
| SLC6A8solute carrier family 6 member 8 | Soms (5–29%) | In 2 aandoeningen |
| SLC9A6solute carrier family 9 member A6 | Soms (5–29%) | In 1 aandoening |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Soms (5–29%) | In 1 aandoening |
| SMOC1SPARC related modular calcium binding 1 | Soms (5–29%) | In 1 aandoening |
| SOX9SRY-box transcription factor 9 | Soms (5–29%) | In 1 aandoening |
| STRADASTE20 related adaptor alpha | Soms (5–29%) | In 2 aandoeningen |
| STX1Asyntaxin 1A | Soms (5–29%) | In 1 aandoening |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Soms (5–29%) | In 1 aandoening |
| SYT1synaptotagmin 1 | Soms (5–29%) | In 2 aandoeningen |
| TAOK1TAO kinase 1 | Soms (5–29%) | In 1 aandoening |
| TBL1XR1TBL1X/Y related 1 | Soms (5–29%) | In 1 aandoening |
| TBL2transducin beta like 2 | Soms (5–29%) | In 1 aandoening |
| TBX1T-box transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| TELO2telomere maintenance 2 | Soms (5–29%) | In 1 aandoening |
| TET3tet methylcytosine dioxygenase 3 | Soms (5–29%) | In 1 aandoening |
| THOC2THO complex subunit 2 | Soms (5–29%) | In 1 aandoening |
| TMCO1transmembrane and coiled-coil domains 1 | Soms (5–29%) | In 1 aandoening |
| TMEM270transmembrane protein 270 | Soms (5–29%) | In 1 aandoening |
| TNNC2troponin C2, fast skeletal type | Soms (5–29%) | In 1 aandoening |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Soms (5–29%) | In 1 aandoening |
| TONSLtonsoku like, DNA repair protein | Soms (5–29%) | In 1 aandoening |
| TRAF7TNF receptor associated factor 7 | Soms (5–29%) | In 1 aandoening |
| TRIM32tripartite motif containing 32 | Soms (5–29%) | In 1 aandoening |
| TRIM8tripartite motif containing 8 | Soms (5–29%) | In 1 aandoening |
| TTC8tetratricopeptide repeat domain 8 | Soms (5–29%) | In 1 aandoening |
| TUBB3tubulin beta 3 class III | Soms (5–29%) | In 1 aandoening |
| UBE3Aubiquitin protein ligase E3A | Soms (5–29%) | In 1 aandoening |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Soms (5–29%) | In 1 aandoening |
| USP9Xubiquitin specific peptidase 9 X-linked | Soms (5–29%) | In 3 aandoeningen |
| VPS37DVPS37D subunit of ESCRT-I | Soms (5–29%) | In 1 aandoening |
| WDPCPWD repeat containing planar cell polarity effector | Soms (5–29%) | In 1 aandoening |
| XYLT2xylosyltransferase 2 | Soms (5–29%) | In 1 aandoening |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Soms (5–29%) | In 1 aandoening |
| ZMYM2zinc finger MYM-type containing 2 | Soms (5–29%) | In 1 aandoening |
| ACBD6acyl-CoA binding domain containing 6 | Zelden (1–4%) | In 1 aandoening |
| CTCFCCCTC-binding factor | Zelden (1–4%) | In 1 aandoening |
| CTSKcathepsin K | Zelden (1–4%) | In 1 aandoening |
| SLC35A2solute carrier family 35 member A2 | Zelden (1–4%) | In 1 aandoening |
| SPTBN1spectrin beta, non-erythrocytic 1 | Zelden (1–4%) | In 1 aandoening |
| STAC3SH3 and cysteine rich domain 3 | Zelden (1–4%) | In 1 aandoening |
| TBR1T-box brain transcription factor 1 | Zelden (1–4%) | In 1 aandoening |
| ZNF341zinc finger protein 341 | Zelden (1–4%) | In 1 aandoening |
| AGAaspartylglucosaminidase | Niet vastgelegd | In 1 aandoening |
| AMMECR1AMMECR nuclear protein 1 | Niet vastgelegd | In 1 aandoening |
| ATN1atrophin 1 | Niet vastgelegd | In 1 aandoening |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Niet vastgelegd | In 1 aandoening |
| ATP7BATPase copper transporting beta | Niet vastgelegd | In 1 aandoening |
| B3GLCTbeta 3-glucosyltransferase | Niet vastgelegd | In 1 aandoening |
| CCDC47coiled-coil domain containing 47 | Niet vastgelegd | In 1 aandoening |
| CHST14carbohydrate sulfotransferase 14 | Niet vastgelegd | In 1 aandoening |
| COLEC11collectin subfamily member 11 | Niet vastgelegd | In 1 aandoening |
| DCHS1dachsous cadherin-related 1 | Niet vastgelegd | In 1 aandoening |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Niet vastgelegd | In 1 aandoening |
| EEDembryonic ectoderm development | Niet vastgelegd | In 1 aandoening |
| FAT4FAT atypical cadherin 4 | Niet vastgelegd | In 1 aandoening |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Niet vastgelegd | In 1 aandoening |
| GLB1galactosidase beta 1 | Niet vastgelegd | In 1 aandoening |
| OTX2orthodenticle homeobox 2 | Niet vastgelegd | In 1 aandoening |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Niet vastgelegd | In 1 aandoening |
| PORCNporcupine O-acyltransferase | Niet vastgelegd | In 1 aandoening |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Niet vastgelegd | In 1 aandoening |
| RETret proto-oncogene | Niet vastgelegd | In 1 aandoening |
| SERPINH1serpin family H member 1 | Niet vastgelegd | In 1 aandoening |
| SLC39A13solute carrier family 39 member 13 | Niet vastgelegd | In 1 aandoening |
| SLC6A9solute carrier family 6 member 9 | Niet vastgelegd | In 1 aandoening |
| TCTN3tectonic family member 3 | Niet vastgelegd | In 1 aandoening |
| TLK2tousled like kinase 2 | 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 |
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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