Kenmerk
Close sighted
Klinische naam: Myopia
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Samenvatting
- Ook bekend als
- Near sighted, Near sightedness, Nearsightedness
- Lichaamssysteem
- Abnormality of the eye
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Close sighted 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 |
|---|---|---|
| ADAMTS18ADAM metallopeptidase with thrombospondin type 1 motif 18 | Altijd | In 1 aandoening |
| B3GALT6beta-1,3-galactosyltransferase 6 | Altijd | In 2 aandoeningen |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Altijd | In 3 aandoeningen |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Altijd | In 1 aandoening |
| COL11A1collagen type XI alpha 1 chain | Altijd | In 4 aandoeningen |
| COL2A1collagen type II alpha 1 chain | Altijd | In 14 aandoeningen |
| COL9A1collagen type IX alpha 1 chain | Altijd | In 2 aandoeningen |
| COPZ1coat protein complex I subunit zeta 1 | Altijd | In 1 aandoening |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Altijd | In 1 aandoening |
| EEDembryonic ectoderm development | Altijd | In 1 aandoening |
| ERI1exoribonuclease 1 | Altijd | In 1 aandoening |
| EXOSC2exosome component 2 | Altijd | In 1 aandoening |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Altijd | In 1 aandoening |
| IFT27intraflagellar transport 27 | Altijd | In 1 aandoening |
| INTS11integrator complex subunit 11 | Altijd | In 1 aandoening |
| KDM2Blysine demethylase 2B | Altijd | In 1 aandoening |
| KDM6Blysine demethylase 6B | Altijd | In 1 aandoening |
| LRRC32leucine rich repeat containing 32 | Altijd | In 1 aandoening |
| MAP2K2mitogen-activated protein kinase kinase 2 | Altijd | In 3 aandoeningen |
| MSL2MSL complex subunit 2 | Altijd | In 1 aandoening |
| NHEJ1non-homologous end joining factor 1 | Altijd | In 1 aandoening |
| NOS3nitric oxide synthase 3 | Altijd | In 1 aandoening |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Altijd | In 1 aandoening |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altijd | In 1 aandoening |
| PEX11Bperoxisomal biogenesis factor 11 beta | Altijd | In 1 aandoening |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altijd | In 1 aandoening |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Altijd | In 1 aandoening |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Altijd | In 4 aandoeningen |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Altijd | In 2 aandoeningen |
| RFC4replication factor C subunit 4 | Altijd | In 1 aandoening |
| RP2RP2 activator of ARL3 GTPase | Altijd | In 1 aandoening |
| RPGRIP1RPGR interacting protein 1 | Altijd | In 2 aandoeningen |
| SPTSSAserine palmitoyltransferase small subunit A | Altijd | In 1 aandoening |
| TBC1D7TBC1 domain family member 7 | Altijd | In 1 aandoening |
| TMEM216transmembrane protein 216 | Altijd | In 1 aandoening |
| TSPAN7tetraspanin 7 | Altijd | In 1 aandoening |
| TUBTUB bipartite transcription factor | Altijd | In 1 aandoening |
| UBAP2Lubiquitin associated protein 2 like | Altijd | In 1 aandoening |
| VPS13Bvacuolar protein sorting 13 homolog B | Altijd | In 2 aandoeningen |
| WDR19WD repeat domain 19 | Altijd | In 2 aandoeningen |
Toon nog 369 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ZFXzinc finger protein X-linked | Altijd | In 1 aandoening |
| ZMYM3zinc finger MYM-type containing 3 | Altijd | In 1 aandoening |
| ASXL1ASXL transcriptional regulator 1 | Heel vaak (80–99%) | In 1 aandoening |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| BMP4bone morphogenetic protein 4 | Heel vaak (80–99%) | In 3 aandoeningen |
| CHMCHM Rab escort protein | Heel vaak (80–99%) | In 1 aandoening |
| CLDN19claudin 19 | Heel vaak (80–99%) | In 2 aandoeningen |
| COL18A1collagen type XVIII alpha 1 chain | Heel vaak (80–99%) | In 1 aandoening |
| CRPPACDP-L-ribitol pyrophosphorylase A | Heel vaak (80–99%) | In 1 aandoening |
| DPYDdihydropyrimidine dehydrogenase | Heel vaak (80–99%) | In 2 aandoeningen |
| FKRPfukutin related protein | Heel vaak (80–99%) | In 5 aandoeningen |
| FKTNfukutin | Heel vaak (80–99%) | In 4 aandoeningen |
| GMPPBGDP-mannose pyrophosphorylase B | Heel vaak (80–99%) | In 3 aandoeningen |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| LRP2LDL receptor related protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| OATornithine aminotransferase | Heel vaak (80–99%) | In 2 aandoeningen |
| PAK2p21 (RAC1) activated kinase 2 | Heel vaak (80–99%) | In 1 aandoening |
| POMT1protein O-mannosyltransferase 1 | Heel vaak (80–99%) | In 5 aandoeningen |
| POMT2protein O-mannosyltransferase 2 | Heel vaak (80–99%) | In 6 aandoeningen |
| PRDM5PR/SET domain 5 | Heel vaak (80–99%) | In 1 aandoening |
| PTENphosphatase and tensin homolog | Heel vaak (80–99%) | In 3 aandoeningen |
| TCF4transcription factor 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| TRPM1transient receptor potential cation channel subfamily M member 1 | Heel vaak (80–99%) | In 1 aandoening |
| TULP1TUB like protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| ACOX1acyl-CoA oxidase 1 | Vaak (30–79%) | In 1 aandoening |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Vaak (30–79%) | In 2 aandoeningen |
| ADAMTSL1ADAMTS like 1 | Vaak (30–79%) | In 1 aandoening |
| ADAMTSL2ADAMTS like 2 | Vaak (30–79%) | In 2 aandoeningen |
| ADGRV1adhesion G protein-coupled receptor V1 | Vaak (30–79%) | In 1 aandoening |
| AGBL5AGBL carboxypeptidase 5 | Vaak (30–79%) | In 1 aandoening |
| AGKacylglycerol kinase | Vaak (30–79%) | In 2 aandoeningen |
| ARID1BAT-rich interaction domain 1B | Vaak (30–79%) | In 2 aandoeningen |
| ARL6ARF like GTPase 6 | Vaak (30–79%) | In 1 aandoening |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Vaak (30–79%) | In 1 aandoening |
| ATAD3AATPase family AAA domain containing 3A | Vaak (30–79%) | In 2 aandoeningen |
| ATF6activating transcription factor 6 | Vaak (30–79%) | In 1 aandoening |
| B4GALT1beta-1,4-galactosyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| BBS1Bardet-Biedl syndrome 1 | Vaak (30–79%) | In 1 aandoening |
| BPTFbromodomain PHD finger transcription factor | Vaak (30–79%) | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Vaak (30–79%) | In 3 aandoeningen |
| BRD4bromodomain containing 4 | Vaak (30–79%) | In 1 aandoening |
| CAMTA1calmodulin binding transcription activator 1 | Vaak (30–79%) | In 1 aandoening |
| CASKcalcium/calmodulin dependent serine protein kinase | Vaak (30–79%) | In 1 aandoening |
| CBScystathionine beta-synthase | Vaak (30–79%) | In 2 aandoeningen |
| CCDC28Bcoiled-coil domain containing 28B | Vaak (30–79%) | In 1 aandoening |
| CDK8cyclin dependent kinase 8 | Vaak (30–79%) | In 1 aandoening |
| CHST14carbohydrate sulfotransferase 14 | Vaak (30–79%) | In 2 aandoeningen |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Vaak (30–79%) | In 1 aandoening |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Vaak (30–79%) | In 1 aandoening |
| COL1A2collagen type I alpha 2 chain | Vaak (30–79%) | In 2 aandoeningen |
| COL9A2collagen type IX alpha 2 chain | Vaak (30–79%) | In 1 aandoening |
| COL9A3collagen type IX alpha 3 chain | Vaak (30–79%) | In 1 aandoening |
| CRYAAcrystallin alpha A | Vaak (30–79%) | In 1 aandoening |
| CRYBA4crystallin beta A4 | Vaak (30–79%) | In 1 aandoening |
| CRYBB1crystallin beta B1 | Vaak (30–79%) | In 1 aandoening |
| CRYBB2crystallin beta B2 | Vaak (30–79%) | In 1 aandoening |
| CRYGCcrystallin gamma C | Vaak (30–79%) | In 1 aandoening |
| CRYGDcrystallin gamma D | Vaak (30–79%) | In 1 aandoening |
| DSEdermatan sulfate epimerase | Vaak (30–79%) | In 1 aandoening |
| EXOSC5exosome component 5 | Vaak (30–79%) | In 1 aandoening |
| FANCIFA complementation group I | Vaak (30–79%) | In 1 aandoening |
| FBN1fibrillin 1 | Vaak (30–79%) | In 5 aandoeningen |
| FGFR2fibroblast growth factor receptor 2 | Vaak (30–79%) | In 1 aandoening |
| FKBP14FKBP prolyl isomerase 14 | Vaak (30–79%) | In 2 aandoeningen |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Vaak (30–79%) | In 1 aandoening |
| GJA1gap junction protein alpha 1 | Vaak (30–79%) | In 2 aandoeningen |
| GJA8gap junction protein alpha 8 | Vaak (30–79%) | In 1 aandoening |
| GNAT2G protein subunit alpha transducin 2 | Vaak (30–79%) | In 1 aandoening |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Vaak (30–79%) | In 2 aandoeningen |
| GPR156G protein-coupled receptor 156 | Vaak (30–79%) | In 1 aandoening |
| GRM6glutamate metabotropic receptor 6 | Vaak (30–79%) | In 1 aandoening |
| GTPBP2GTP binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Vaak (30–79%) | In 2 aandoeningen |
| HDAC8histone deacetylase 8 | Vaak (30–79%) | In 2 aandoeningen |
| HRASHRas proto-oncogene, GTPase | Vaak (30–79%) | In 1 aandoening |
| HSPG2heparan sulfate proteoglycan 2 | Vaak (30–79%) | In 2 aandoeningen |
| HYAL2hyaluronidase 2 | Vaak (30–79%) | In 1 aandoening |
| KAT6Alysine acetyltransferase 6A | Vaak (30–79%) | In 1 aandoening |
| KDM5Blysine demethylase 5B | Vaak (30–79%) | In 1 aandoening |
| KIF11kinesin family member 11 | Vaak (30–79%) | In 2 aandoeningen |
| KRASKRas proto-oncogene, GTPase | Vaak (30–79%) | In 3 aandoeningen |
| LAMA1laminin subunit alpha 1 | Vaak (30–79%) | In 2 aandoeningen |
| LAMP2lysosome associated membrane protein 2 | Vaak (30–79%) | In 1 aandoening |
| LOXL3lysyl oxidase like 3 | Vaak (30–79%) | In 1 aandoening |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Vaak (30–79%) | In 1 aandoening |
| MAFMAF bZIP transcription factor | Vaak (30–79%) | In 1 aandoening |
| MAN2B1mannosidase alpha class 2B member 1 | Vaak (30–79%) | In 2 aandoeningen |
| MAP2K1mitogen-activated protein kinase kinase 1 | Vaak (30–79%) | In 3 aandoeningen |
| MAU2MAU2 sister chromatid cohesion factor | Vaak (30–79%) | In 2 aandoeningen |
| MYO1Hmyosin IH | Vaak (30–79%) | In 1 aandoening |
| MYO5Amyosin VA | Vaak (30–79%) | In 1 aandoening |
| MYO7Amyosin VIIA | Vaak (30–79%) | In 1 aandoening |
| NBASNBAS subunit of NRZ tethering complex | Vaak (30–79%) | In 1 aandoening |
| NDRG1N-myc downstream regulated 1 | Vaak (30–79%) | In 1 aandoening |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Vaak (30–79%) | In 1 aandoening |
| NFIXnuclear factor I X | Vaak (30–79%) | In 2 aandoeningen |
| NIPBLNIPBL cohesin loading factor | Vaak (30–79%) | In 2 aandoeningen |
| NONOnon-POU domain containing octamer binding | Vaak (30–79%) | In 2 aandoeningen |
| NSD1nuclear receptor binding SET domain protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| OPN1LWopsin 1, long wave sensitive | Vaak (30–79%) | In 2 aandoeningen |
| OPN1MWopsin 1, medium wave sensitive | Vaak (30–79%) | In 2 aandoeningen |
| PAX2paired box 2 | Vaak (30–79%) | In 1 aandoening |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Vaak (30–79%) | In 1 aandoening |
| PDE6Cphosphodiesterase 6C | Vaak (30–79%) | In 1 aandoening |
| PDE6Hphosphodiesterase 6H | Vaak (30–79%) | In 1 aandoening |
| PDZD7PDZ domain containing 7 | Vaak (30–79%) | In 1 aandoening |
| PDZD8PDZ domain containing 8 | Vaak (30–79%) | In 1 aandoening |
| POLR1CRNA polymerase I and III subunit C | Vaak (30–79%) | In 1 aandoening |
| POLR3ARNA polymerase III subunit A | Vaak (30–79%) | In 3 aandoeningen |
| POLR3BRNA polymerase III subunit B | Vaak (30–79%) | In 2 aandoeningen |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Vaak (30–79%) | In 1 aandoening |
| PRR12proline rich 12 | Vaak (30–79%) | In 1 aandoening |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Vaak (30–79%) | In 1 aandoening |
| RAD21RAD21 cohesin complex component | Vaak (30–79%) | In 1 aandoening |
| RAI1retinoic acid induced 1 | Vaak (30–79%) | In 2 aandoeningen |
| RHOAras homolog family member A | Vaak (30–79%) | In 1 aandoening |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Vaak (30–79%) | In 1 aandoening |
| RNU5B-1RNA, U5B small nuclear 1 | Vaak (30–79%) | In 1 aandoening |
| RPGRretinitis pigmentosa GTPase regulator | Vaak (30–79%) | In 2 aandoeningen |
| SETD5SET domain containing 5 | Vaak (30–79%) | In 1 aandoening |
| SLC25A4solute carrier family 25 member 4 | Vaak (30–79%) | In 1 aandoening |
| SLC2A10solute carrier family 2 member 10 | Vaak (30–79%) | In 2 aandoeningen |
| SMC1Astructural maintenance of chromosomes 1A | Vaak (30–79%) | In 1 aandoening |
| SMC3structural maintenance of chromosomes 3 | Vaak (30–79%) | In 2 aandoeningen |
| SOX10SRY-box transcription factor 10 | Vaak (30–79%) | In 1 aandoening |
| SOX5SRY-box transcription factor 5 | Vaak (30–79%) | In 2 aandoeningen |
| TAF1TATA-box binding protein associated factor 1 | 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 |
| TKFCtriokinase and FMN cyclase | Vaak (30–79%) | In 1 aandoening |
| TLK2tousled like kinase 2 | Vaak (30–79%) | In 1 aandoening |
| TMEM63Atransmembrane protein 63A | Vaak (30–79%) | In 1 aandoening |
| TWIST2twist family bHLH transcription factor 2 | Vaak (30–79%) | In 1 aandoening |
| UBE3Bubiquitin protein ligase E3B | Vaak (30–79%) | In 2 aandoeningen |
| UNC119unc-119 lipid binding chaperone | Vaak (30–79%) | In 1 aandoening |
| USH2Ausherin | Vaak (30–79%) | In 1 aandoening |
| VARS1valyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| VCANversican | Vaak (30–79%) | In 2 aandoeningen |
| WHRNwhirlin | Vaak (30–79%) | In 1 aandoening |
| YME1L1YME1 like 1 ATPase | Vaak (30–79%) | In 1 aandoening |
| ZNF408zinc finger protein 408 | Vaak (30–79%) | In 1 aandoening |
| ZSWIM6zinc finger SWIM-type containing 6 | Vaak (30–79%) | In 2 aandoeningen |
| AARS1alanyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| ACSL4acyl-CoA synthetase long chain family member 4 | Soms (5–29%) | In 1 aandoening |
| AEBP1AE binding protein 1 | Soms (5–29%) | In 1 aandoening |
| AFF4ALF transcription elongation factor 4 | Soms (5–29%) | In 1 aandoening |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Soms (5–29%) | In 1 aandoening |
| AKT1AKT serine/threonine kinase 1 | Soms (5–29%) | In 1 aandoening |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Soms (5–29%) | In 1 aandoening |
| ALMS1ALMS1 centrosome and basal body associated protein | Soms (5–29%) | In 1 aandoening |
| AMMECR1AMMECR nuclear protein 1 | Soms (5–29%) | In 1 aandoening |
| AMOTL1angiomotin like 1 | Soms (5–29%) | In 1 aandoening |
| ANKRD11ankyrin repeat domain 11 | Soms (5–29%) | In 1 aandoening |
| ANTXR1ANTXR cell adhesion molecule 1 | Soms (5–29%) | In 1 aandoening |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Soms (5–29%) | In 1 aandoening |
| ARCN1archain 1 coat protein complex I subunit delta | Soms (5–29%) | In 1 aandoening |
| ARID1AAT-rich interaction domain 1A | Soms (5–29%) | In 1 aandoening |
| ARID2AT-rich interaction domain 2 | Soms (5–29%) | In 1 aandoening |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Soms (5–29%) | In 1 aandoening |
| ATRXATRX chromatin remodeler | Soms (5–29%) | In 1 aandoening |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Soms (5–29%) | In 1 aandoening |
| BCL11BBCL11 transcription factor B | 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 |
| CABP4calcium binding protein 4 | Soms (5–29%) | In 1 aandoening |
| CAPRIN1cell cycle associated protein 1 | Soms (5–29%) | In 1 aandoening |
| CARS1cysteinyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| CCNQcyclin Q | Soms (5–29%) | In 1 aandoening |
| CDC45cell division cycle 45 | Soms (5–29%) | In 1 aandoening |
| CHD6chromodomain helicase DNA binding protein 6 | Soms (5–29%) | In 1 aandoening |
| CHMP1Acharged multivesicular body protein 1A | Soms (5–29%) | In 1 aandoening |
| CILK1ciliogenesis associated kinase 1 | Soms (5–29%) | In 1 aandoening |
| CLDN16claudin 16 | Soms (5–29%) | In 1 aandoening |
| CLIP2CAP-Gly domain containing linker protein 2 | Soms (5–29%) | In 1 aandoening |
| COL12A1collagen type XII alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COL1A1collagen type I alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COL4A5collagen type IV alpha 5 chain | Soms (5–29%) | In 3 aandoeningen |
| COL4A6collagen type IV alpha 6 chain | Soms (5–29%) | In 1 aandoening |
| COX7Bcytochrome c oxidase subunit 7B | Soms (5–29%) | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Soms (5–29%) | In 1 aandoening |
| CRELD1CRELD disulfide isomerase 1 | Soms (5–29%) | In 1 aandoening |
| CRYBA2crystallin beta A2 | Soms (5–29%) | In 1 aandoening |
| CSPP1centrosome and spindle pole associated protein 1 | Soms (5–29%) | In 1 aandoening |
| CTNNB1catenin beta 1 | Soms (5–29%) | In 1 aandoening |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Soms (5–29%) | In 1 aandoening |
| DBR1debranching RNA lariats 1 | Soms (5–29%) | In 1 aandoening |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Soms (5–29%) | In 1 aandoening |
| DPF2double PHD fingers 2 | Soms (5–29%) | In 1 aandoening |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Soms (5–29%) | In 2 aandoeningen |
| EBF3EBF transcription factor 3 | Soms (5–29%) | In 1 aandoening |
| EIF4Heukaryotic translation initiation factor 4H | Soms (5–29%) | In 1 aandoening |
| ELNelastin | Soms (5–29%) | In 1 aandoening |
| ELP1elongator acetyltransferase complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| EMC1ER membrane protein complex subunit 1 | Soms (5–29%) | In 2 aandoeningen |
| 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 |
| FBXW11F-box and WD repeat domain containing 11 | Soms (5–29%) | In 1 aandoening |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Soms (5–29%) | In 1 aandoening |
| FN1fibronectin 1 | Soms (5–29%) | In 1 aandoening |
| FZD4frizzled class receptor 4 | Soms (5–29%) | In 1 aandoening |
| GPR143G protein-coupled receptor 143 | Soms (5–29%) | In 1 aandoening |
| GRK1G protein-coupled receptor kinase 1 | 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 |
| 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 |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Soms (5–29%) | In 1 aandoening |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Soms (5–29%) | In 1 aandoening |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Soms (5–29%) | In 2 aandoeningen |
| IFT122intraflagellar transport 122 | Soms (5–29%) | In 2 aandoeningen |
| IFT43intraflagellar transport 43 | Soms (5–29%) | In 1 aandoening |
| IFT52intraflagellar transport 52 | Soms (5–29%) | In 1 aandoening |
| IGF1insulin like growth factor 1 | Soms (5–29%) | In 1 aandoening |
| IPO8importin 8 | Soms (5–29%) | In 1 aandoening |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Soms (5–29%) | In 1 aandoening |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Soms (5–29%) | In 1 aandoening |
| KDM5Clysine demethylase 5C | Soms (5–29%) | In 1 aandoening |
| KIAA0586KIAA0586 | Soms (5–29%) | In 1 aandoening |
| LAMB2laminin subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| LCA5lebercilin LCA5 | Soms (5–29%) | In 1 aandoening |
| LIMK1LIM domain kinase 1 | Soms (5–29%) | In 1 aandoening |
| LOXlysyl oxidase | Soms (5–29%) | In 1 aandoening |
| LRATlecithin retinol acyltransferase | Soms (5–29%) | In 1 aandoening |
| LRP5LDL receptor related protein 5 | Soms (5–29%) | In 1 aandoening |
| LTBP2latent transforming growth factor beta binding protein 2 | Soms (5–29%) | In 2 aandoeningen |
| LTBP3latent transforming growth factor beta binding protein 3 | Soms (5–29%) | In 1 aandoening |
| MADDMAP kinase activating death domain | Soms (5–29%) | In 1 aandoening |
| MAGEL2MAGE family member L2 | Soms (5–29%) | In 3 aandoeningen |
| MARK2microtubule affinity regulating kinase 2 | Soms (5–29%) | In 1 aandoening |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Soms (5–29%) | In 1 aandoening |
| MED12Lmediator complex subunit 12L | Soms (5–29%) | In 1 aandoening |
| MED13Lmediator complex subunit 13L | Soms (5–29%) | In 1 aandoening |
| METTL27methyltransferase like 27 | Soms (5–29%) | In 1 aandoening |
| MKRN3makorin ring finger protein 3 | Soms (5–29%) | In 1 aandoening |
| MPLKIPM-phase specific PLK1 interacting protein | Soms (5–29%) | In 1 aandoening |
| MSX2msh homeobox 2 | Soms (5–29%) | In 1 aandoening |
| MYOCmyocilin | Soms (5–29%) | In 2 aandoeningen |
| NCF1neutrophil cytosolic factor 1 | Soms (5–29%) | In 1 aandoening |
| NDPnorrin cystine knot growth factor NDP | Soms (5–29%) | In 1 aandoening |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Soms (5–29%) | In 1 aandoening |
| NOTCH2notch receptor 2 | Soms (5–29%) | In 1 aandoening |
| NPAP1nuclear pore associated protein 1 | Soms (5–29%) | In 1 aandoening |
| NPR3natriuretic peptide receptor 3 | Soms (5–29%) | In 1 aandoening |
| NRASNRAS proto-oncogene, GTPase | Soms (5–29%) | In 1 aandoening |
| NT5C25'-nucleotidase, cytosolic II | Soms (5–29%) | In 2 aandoeningen |
| OTX2orthodenticle homeobox 2 | Soms (5–29%) | In 1 aandoening |
| PACS2phosphofurin acidic cluster sorting protein 2 | Soms (5–29%) | In 1 aandoening |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Soms (5–29%) | In 1 aandoening |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Soms (5–29%) | In 1 aandoening |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Soms (5–29%) | In 2 aandoeningen |
| PMM2phosphomannomutase 2 | Soms (5–29%) | In 1 aandoening |
| PNPLA6patatin like domain 6, lysophospholipase | Soms (5–29%) | In 1 aandoening |
| POGZpogo transposable element derived with ZNF domain | Soms (5–29%) | In 2 aandoeningen |
| POMKprotein O-mannose kinase | Soms (5–29%) | In 1 aandoening |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Soms (5–29%) | In 1 aandoening |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Soms (5–29%) | In 1 aandoening |
| PRPH2peripherin 2 | Soms (5–29%) | In 1 aandoening |
| PSAPprosaposin | Soms (5–29%) | In 1 aandoening |
| PTBP1polypyrimidine tract binding protein 1 | Soms (5–29%) | In 1 aandoening |
| PUF60poly(U) binding splicing factor 60 | Soms (5–29%) | In 1 aandoening |
| PURApurine rich element binding protein A | Soms (5–29%) | In 1 aandoening |
| PWAR1Prader Willi/Angelman region RNA 1 | Soms (5–29%) | In 1 aandoening |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Soms (5–29%) | In 1 aandoening |
| RBM10RNA binding motif protein 10 | Soms (5–29%) | In 1 aandoening |
| REREarginine-glutamic acid dipeptide repeats | Soms (5–29%) | In 1 aandoening |
| RFC2replication factor C subunit 2 | Soms (5–29%) | In 1 aandoening |
| RNF113Aring finger protein 113A | Soms (5–29%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Soms (5–29%) | In 1 aandoening |
| RPE65retinoid isomerohydrolase RPE65 | Soms (5–29%) | In 1 aandoening |
| RPL10ribosomal protein L10 | Soms (5–29%) | In 1 aandoening |
| SAGS-antigen visual arrestin | Soms (5–29%) | In 1 aandoening |
| SETBP1SET binding protein 1 | Soms (5–29%) | In 1 aandoening |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Soms (5–29%) | In 1 aandoening |
| SKISKI proto-oncogene | Soms (5–29%) | In 2 aandoeningen |
| SLC12A6solute carrier family 12 member 6 | Soms (5–29%) | In 1 aandoening |
| SMAD2SMAD family member 2 | Soms (5–29%) | In 1 aandoening |
| SMAD3SMAD family member 3 | Soms (5–29%) | In 1 aandoening |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Soms (5–29%) | In 1 aandoening |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Soms (5–29%) | In 1 aandoening |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Soms (5–29%) | In 1 aandoening |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Soms (5–29%) | In 1 aandoening |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Soms (5–29%) | In 1 aandoening |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Soms (5–29%) | In 1 aandoening |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Soms (5–29%) | In 1 aandoening |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Soms (5–29%) | In 1 aandoening |
| SONSON DNA and RNA binding protein | Soms (5–29%) | In 1 aandoening |
| SOX11SRY-box transcription factor 11 | Soms (5–29%) | In 1 aandoening |
| SOX4SRY-box transcription factor 4 | Soms (5–29%) | In 1 aandoening |
| SOX9SRY-box transcription factor 9 | Soms (5–29%) | In 1 aandoening |
| SPATA7spermatogenesis associated 7 | Soms (5–29%) | In 1 aandoening |
| STX1Asyntaxin 1A | Soms (5–29%) | In 1 aandoening |
| TARS1threonyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| TBC1D24TBC1 domain family member 24 | Soms (5–29%) | In 1 aandoening |
| TBL2transducin beta like 2 | Soms (5–29%) | In 1 aandoening |
| TEKTEK receptor tyrosine kinase | Soms (5–29%) | In 1 aandoening |
| TFAP2Btranscription factor AP-2 beta | Soms (5–29%) | In 1 aandoening |
| TGFB2transforming growth factor beta 2 | Soms (5–29%) | In 1 aandoening |
| TGFB3transforming growth factor beta 3 | Soms (5–29%) | In 1 aandoening |
| TGFBR1transforming growth factor beta receptor 1 | Soms (5–29%) | In 1 aandoening |
| TGFBR2transforming growth factor beta receptor 2 | Soms (5–29%) | In 1 aandoening |
| TMEM270transmembrane protein 270 | Soms (5–29%) | In 1 aandoening |
| TNPO2transportin 2 | Soms (5–29%) | In 1 aandoening |
| TRA2Btransformer 2 beta homolog | Soms (5–29%) | In 1 aandoening |
| TRAPPC11trafficking protein particle complex subunit 11 | Soms (5–29%) | In 2 aandoeningen |
| USP7ubiquitin specific peptidase 7 | Soms (5–29%) | In 1 aandoening |
| USP9Xubiquitin specific peptidase 9 X-linked | Soms (5–29%) | In 2 aandoeningen |
| VPS37DVPS37D subunit of ESCRT-I | Soms (5–29%) | In 1 aandoening |
| WACWW domain containing adaptor with coiled-coil | Soms (5–29%) | In 2 aandoeningen |
| WDR26WD repeat domain 26 | Soms (5–29%) | In 2 aandoeningen |
| WDR35WD repeat domain 35 | Soms (5–29%) | In 1 aandoening |
| XYLT1xylosyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| XYLT2xylosyltransferase 2 | Soms (5–29%) | In 1 aandoening |
| ZEB2zinc finger E-box binding homeobox 2 | Soms (5–29%) | In 2 aandoeningen |
| APC2APC regulator of Wnt signaling pathway 2 | Zelden (1–4%) | In 1 aandoening |
| MYT1Lmyelin transcription factor 1 like | Zelden (1–4%) | In 1 aandoening |
| NALCNsodium leak channel, non-selective | Zelden (1–4%) | In 1 aandoening |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Zelden (1–4%) | In 1 aandoening |
| ABCC6ATP binding cassette subfamily C member 6 | Niet vastgelegd | In 1 aandoening |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Niet vastgelegd | In 1 aandoening |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Niet vastgelegd | In 1 aandoening |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Niet vastgelegd | In 1 aandoening |
| B3GLCTbeta 3-glucosyltransferase | Niet vastgelegd | In 1 aandoening |
| BFSP2beaded filament structural protein 2 | Niet vastgelegd | In 1 aandoening |
| BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3 | Niet vastgelegd | In 1 aandoening |
| C12orf57chromosome 12 open reading frame 57 | Niet vastgelegd | In 1 aandoening |
| CANT1calcium activated nucleotidase 1 | Niet vastgelegd | In 1 aandoening |
| CFAP418cilia and flagella associated protein 418 | Niet vastgelegd | In 1 aandoening |
| COL4A1collagen type IV alpha 1 chain | Niet vastgelegd | In 1 aandoening |
| COL4A3collagen type IV alpha 3 chain | Niet vastgelegd | In 2 aandoeningen |
| COL4A4collagen type IV alpha 4 chain | Niet vastgelegd | In 2 aandoeningen |
| COL5A1collagen type V alpha 1 chain | Niet vastgelegd | In 1 aandoening |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Niet vastgelegd | In 1 aandoening |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Niet vastgelegd | In 1 aandoening |
| EPHA2EPH receptor A2 | Niet vastgelegd | In 1 aandoening |
| FBN2fibrillin 2 | Niet vastgelegd | In 1 aandoening |
| GJC2gap junction protein gamma 2 | Niet vastgelegd | In 1 aandoening |
| GLE1GLE1 RNA export mediator | Niet vastgelegd | In 1 aandoening |
| GLRBglycine receptor beta | Niet vastgelegd | In 1 aandoening |
| HTThuntingtin | Niet vastgelegd | In 1 aandoening |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Niet vastgelegd | In 1 aandoening |
| IFIH1interferon induced with helicase C domain 1 | Niet vastgelegd | In 1 aandoening |
| JAG1jagged canonical Notch ligand 1 | Niet vastgelegd | In 1 aandoening |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Niet vastgelegd | In 1 aandoening |
| KCNV2potassium voltage-gated channel modifier subfamily V member 2 | Niet vastgelegd | In 1 aandoening |
| MBD5methyl-CpG binding domain protein 5 | Niet vastgelegd | In 1 aandoening |
| MC1Rmelanocortin 1 receptor | Niet vastgelegd | In 1 aandoening |
| OCA2OCA2 melanosomal transmembrane protein | Niet vastgelegd | In 1 aandoening |
| OPTNoptineurin | Niet vastgelegd | In 1 aandoening |
| PACS1phosphofurin acidic cluster sorting protein 1 | Niet vastgelegd | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Niet vastgelegd | In 1 aandoening |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Niet vastgelegd | In 1 aandoening |
| RECQL4RecQ like helicase 4 | Niet vastgelegd | In 1 aandoening |
| RP1RP1 axonemal microtubule associated | Niet vastgelegd | In 1 aandoening |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Niet vastgelegd | In 1 aandoening |
| SRCAPSnf2 related CREBBP activator protein | Niet vastgelegd | In 1 aandoening |
| TCF20transcription factor 20 | Niet vastgelegd | In 1 aandoening |
| TDO2tryptophan 2,3-dioxygenase | Niet vastgelegd | In 1 aandoening |
| TEAD1TEA domain transcription factor 1 | Niet vastgelegd | In 1 aandoening |
| TFAP2Atranscription factor AP-2 alpha | Niet vastgelegd | In 1 aandoening |
| THG1LtRNA-histidine guanylyltransferase 1 like | Niet vastgelegd | In 1 aandoening |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Niet vastgelegd | In 1 aandoening |
| TMEM94transmembrane protein 94 | Niet vastgelegd | In 1 aandoening |
| TRIT1tRNA isopentenyltransferase 1 | Niet vastgelegd | In 1 aandoening |
| TRNT1tRNA nucleotidyl transferase 1 | Niet vastgelegd | In 1 aandoening |
| TYRtyrosinase | Niet vastgelegd | In 1 aandoening |
| UBE3Aubiquitin protein ligase E3A | Niet vastgelegd | In 1 aandoening |
| UCHL1ubiquitin C-terminal hydrolase L1 | 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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