Kenmerk
Bulging eye
Klinische naam: Proptosis
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Samenvatting
- Ook bekend als
- Eyeballs bulging out, Prominent eyes, Prominent globes, Protruding eyes, Anterior bulging of the globe, Anterior bulging of the globe of eye, Exophthalmos, Ocular proptosis, Protrusio bulbi
- Lichaamssysteem
- Abnormality of the eye
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Bulging eye 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 |
|---|---|---|
| ALPK3alpha kinase 3 | Altijd | In 1 aandoening |
| AMOTL1angiomotin like 1 | Altijd | In 1 aandoening |
| ASXL1ASXL transcriptional regulator 1 | Altijd | In 2 aandoeningen |
| AXIN1axin 1 | Altijd | In 1 aandoening |
| B3GALT6beta-1,3-galactosyltransferase 6 | Altijd | In 3 aandoeningen |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Altijd | In 2 aandoeningen |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Altijd | In 1 aandoening |
| CDH11cadherin 11 | Altijd | In 3 aandoeningen |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Altijd | In 1 aandoening |
| COL11A2collagen type XI alpha 2 chain | Altijd | In 3 aandoeningen |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Altijd | In 1 aandoening |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | 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 |
| FBN1fibrillin 1 | Altijd | In 2 aandoeningen |
| FGFR2fibroblast growth factor receptor 2 | Altijd | In 12 aandoeningen |
| FGFR3fibroblast growth factor receptor 3 | Altijd | In 7 aandoeningen |
| FLNAfilamin A | Altijd | In 2 aandoeningen |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Altijd | In 2 aandoeningen |
| INSRinsulin receptor | Altijd | In 1 aandoening |
| ITCHitchy E3 ubiquitin protein ligase | Altijd | In 2 aandoeningen |
| KRASKRas proto-oncogene, GTPase | Altijd | In 4 aandoeningen |
| LEMD2LEM domain nuclear envelope protein 2 | Altijd | In 1 aandoening |
| LMNAlamin A/C | Altijd | In 3 aandoeningen |
| MAP2K1mitogen-activated protein kinase kinase 1 | Altijd | In 1 aandoening |
| MAP2K2mitogen-activated protein kinase kinase 2 | Altijd | In 1 aandoening |
| MYOD1myogenic differentiation 1 | Altijd | In 1 aandoening |
| NFIXnuclear factor I X | Altijd | In 2 aandoeningen |
| NXNnucleoredoxin | Altijd | In 2 aandoeningen |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Altijd | In 1 aandoening |
| P4HBprolyl 4-hydroxylase subunit beta | Altijd | In 2 aandoeningen |
| PDGFRBplatelet derived growth factor receptor beta | Altijd | In 2 aandoeningen |
| PEPDpeptidase D | Altijd | In 2 aandoeningen |
| PLCB3phospholipase C beta 3 | Altijd | In 1 aandoening |
| PPIBpeptidylprolyl isomerase B | Altijd | In 1 aandoening |
| RAC3Rac family small GTPase 3 | Altijd | In 1 aandoening |
| SH3PXD2BSH3 and PX domains 2B | Altijd | In 1 aandoening |
| SOSTsclerostin | Altijd | In 1 aandoening |
| TBCKTBC1 domain containing kinase | Altijd | In 1 aandoening |
| TGFB3transforming growth factor beta 3 | Altijd | In 1 aandoening |
Toon nog 244 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Altijd | In 1 aandoening |
| XYLT1xylosyltransferase 1 | Altijd | In 3 aandoeningen |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Altijd | In 1 aandoening |
| ZIC2Zic family zinc finger 2 | Altijd | In 1 aandoening |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Heel vaak (80–99%) | In 2 aandoeningen |
| B4GALT7beta-1,4-galactosyltransferase 7 | Heel vaak (80–99%) | In 1 aandoening |
| CANT1calcium activated nucleotidase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CBLCbl proto-oncogene | Heel vaak (80–99%) | In 1 aandoening |
| COG4component of oligomeric golgi complex 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| COL11A1collagen type XI alpha 1 chain | Heel vaak (80–99%) | In 4 aandoeningen |
| COL2A1collagen type II alpha 1 chain | Heel vaak (80–99%) | In 4 aandoeningen |
| CRTAPcartilage associated protein | Heel vaak (80–99%) | In 2 aandoeningen |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| ELMO2engulfment and cell motility 2 | Heel vaak (80–99%) | In 1 aandoening |
| FIG4FIG4 phosphoinositide 5-phosphatase | Heel vaak (80–99%) | In 2 aandoeningen |
| INPPL1inositol polyphosphate phosphatase like 1 | Heel vaak (80–99%) | In 1 aandoening |
| LZTR1leucine zipper like post translational regulator 1 | Heel vaak (80–99%) | In 1 aandoening |
| MAFBMAF bZIP transcription factor B | Heel vaak (80–99%) | In 2 aandoeningen |
| MRASmuscle RAS oncogene homolog | Heel vaak (80–99%) | In 1 aandoening |
| NBASNBAS subunit of NRZ tethering complex | Heel vaak (80–99%) | In 1 aandoening |
| NRASNRAS proto-oncogene, GTPase | Heel vaak (80–99%) | In 1 aandoening |
| PTH1Rparathyroid hormone 1 receptor | Heel vaak (80–99%) | In 3 aandoeningen |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Heel vaak (80–99%) | In 1 aandoening |
| 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 |
| RECQL4RecQ like helicase 4 | Heel vaak (80–99%) | In 1 aandoening |
| RIT1Ras like without CAAX 1 | Heel vaak (80–99%) | In 1 aandoening |
| RNU4ATACRNA, U4atac small nuclear | Heel vaak (80–99%) | In 2 aandoeningen |
| RRASRAS related | Heel vaak (80–99%) | In 1 aandoening |
| RRAS2RAS related 2 | Heel vaak (80–99%) | In 1 aandoening |
| RSPRY1ring finger and SPRY domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| SEC24DSEC24 homolog D, COPII component | Heel vaak (80–99%) | In 2 aandoeningen |
| SKISKI proto-oncogene | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC39A13solute carrier family 39 member 13 | Heel vaak (80–99%) | In 1 aandoening |
| 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 |
| AFF4ALF transcription elongation factor 4 | Vaak (30–79%) | In 2 aandoeningen |
| ASXL2ASXL transcriptional regulator 2 | Vaak (30–79%) | In 1 aandoening |
| ATXN3ataxin 3 | Vaak (30–79%) | In 4 aandoeningen |
| AUTS2activator of transcription and developmental regulator AUTS2 | Vaak (30–79%) | In 2 aandoeningen |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Vaak (30–79%) | In 1 aandoening |
| BANF1barrier to autointegration nuclear assembly factor 1 | Vaak (30–79%) | In 1 aandoening |
| BGNbiglycan | Vaak (30–79%) | In 1 aandoening |
| CHST3carbohydrate sulfotransferase 3 | Vaak (30–79%) | In 1 aandoening |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Vaak (30–79%) | In 1 aandoening |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| COG1component of oligomeric golgi complex 1 | Vaak (30–79%) | In 1 aandoening |
| COL3A1collagen type III alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| CPLX1complexin 1 | Vaak (30–79%) | In 3 aandoeningen |
| CTBP1C-terminal binding protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| CTSKcathepsin K | Vaak (30–79%) | In 1 aandoening |
| DHRS3dehydrogenase/reductase 3 | 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 |
| ERFETS2 repressor factor | Vaak (30–79%) | In 2 aandoeningen |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Vaak (30–79%) | In 2 aandoeningen |
| FAM20CFAM20C golgi associated secretory pathway kinase | Vaak (30–79%) | In 2 aandoeningen |
| FGFR1fibroblast growth factor receptor 1 | Vaak (30–79%) | In 3 aandoeningen |
| FGFRL1fibroblast growth factor receptor like 1 | Vaak (30–79%) | In 1 aandoening |
| FLT4fms related receptor tyrosine kinase 4 | Vaak (30–79%) | In 1 aandoening |
| FZD2frizzled class receptor 2 | Vaak (30–79%) | In 1 aandoening |
| GATA4GATA binding protein 4 | Vaak (30–79%) | In 2 aandoeningen |
| GATA5GATA binding protein 5 | Vaak (30–79%) | In 1 aandoening |
| GATA6GATA binding protein 6 | Vaak (30–79%) | In 2 aandoeningen |
| GDF1growth differentiation factor 1 | Vaak (30–79%) | In 1 aandoening |
| GJA5gap junction protein alpha 5 | Vaak (30–79%) | In 1 aandoening |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Vaak (30–79%) | In 2 aandoeningen |
| IL11RAinterleukin 11 receptor subunit alpha | Vaak (30–79%) | In 1 aandoening |
| IPO8importin 8 | Vaak (30–79%) | In 1 aandoening |
| JAG1jagged canonical Notch ligand 1 | Vaak (30–79%) | In 2 aandoeningen |
| KAT6Alysine acetyltransferase 6A | Vaak (30–79%) | In 1 aandoening |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Vaak (30–79%) | In 2 aandoeningen |
| KDRkinase insert domain receptor | Vaak (30–79%) | In 1 aandoening |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| LRP2LDL receptor related protein 2 | Vaak (30–79%) | In 2 aandoeningen |
| LTBP1latent transforming growth factor beta binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| MTHFRmethylenetetrahydrofolate reductase | Vaak (30–79%) | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Vaak (30–79%) | In 2 aandoeningen |
| NKX2-5NK2 homeobox 5 | Vaak (30–79%) | In 2 aandoeningen |
| NKX2-6NK2 homeobox 6 | Vaak (30–79%) | In 1 aandoening |
| NLRP3NLR family pyrin domain containing 3 | Vaak (30–79%) | In 2 aandoeningen |
| NSD2nuclear receptor binding SET domain protein 2 | Vaak (30–79%) | In 2 aandoeningen |
| PHGDHphosphoglycerate dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| PKDCCprotein kinase domain containing, cytoplasmic | 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 |
| PSAT1phosphoserine aminotransferase 1 | Vaak (30–79%) | In 1 aandoening |
| RNU12RNA, U12 small nuclear | Vaak (30–79%) | In 1 aandoening |
| ROR2ROR family WNT receptor 2 | Vaak (30–79%) | In 2 aandoeningen |
| SETBP1SET binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| SIX3SIX homeobox 3 | Vaak (30–79%) | In 1 aandoening |
| SLC29A3solute carrier family 29 member 3 | Vaak (30–79%) | In 2 aandoeningen |
| SOX9SRY-box transcription factor 9 | Vaak (30–79%) | In 1 aandoening |
| TBX1T-box transcription factor 1 | Vaak (30–79%) | In 2 aandoeningen |
| TCF12transcription factor 12 | Vaak (30–79%) | In 1 aandoening |
| TCTN3tectonic family member 3 | Vaak (30–79%) | In 1 aandoening |
| TGFB1transforming growth factor beta 1 | Vaak (30–79%) | In 2 aandoeningen |
| TGFBR1transforming growth factor beta receptor 1 | Vaak (30–79%) | In 1 aandoening |
| TGFBR2transforming growth factor beta receptor 2 | Vaak (30–79%) | In 1 aandoening |
| TWIST1twist family bHLH transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| VAC14VAC14 component of PIKFYVE complex | Vaak (30–79%) | In 1 aandoening |
| VANGL2VANGL planar cell polarity protein 2 | Vaak (30–79%) | In 1 aandoening |
| WBP4WW domain binding protein 4 | Vaak (30–79%) | In 1 aandoening |
| WNT5AWnt family member 5A | Vaak (30–79%) | In 2 aandoeningen |
| ZFPM2zinc finger protein, FOG family member 2 | Vaak (30–79%) | In 2 aandoeningen |
| ZIC1Zic family zinc finger 1 | Vaak (30–79%) | In 1 aandoening |
| ZMPSTE24zinc metallopeptidase STE24 | Vaak (30–79%) | In 2 aandoeningen |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Soms (5–29%) | In 1 aandoening |
| ADAMTSL2ADAMTS like 2 | Soms (5–29%) | In 1 aandoening |
| AHDC1AT-hook DNA binding motif containing 1 | Soms (5–29%) | In 1 aandoening |
| AKT1AKT serine/threonine kinase 1 | Soms (5–29%) | In 2 aandoeningen |
| ALKALK receptor tyrosine kinase | Soms (5–29%) | In 1 aandoening |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| APCAPC regulator of Wnt signaling pathway | Soms (5–29%) | In 1 aandoening |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Soms (5–29%) | In 1 aandoening |
| BRCA1BRCA1 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRCA2BRCA2 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRIP1BRCA1 interacting DNA helicase 1 | Soms (5–29%) | In 1 aandoening |
| CD4CD4 molecule | Soms (5–29%) | In 1 aandoening |
| CDC45cell division cycle 45 | Soms (5–29%) | In 1 aandoening |
| COL1A1collagen type I alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| CRELD1CRELD disulfide isomerase 1 | Soms (5–29%) | In 1 aandoening |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Soms (5–29%) | In 1 aandoening |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Soms (5–29%) | In 1 aandoening |
| DHCR77-dehydrocholesterol reductase | Soms (5–29%) | In 1 aandoening |
| DPYSL5dihydropyrimidinase like 5 | Soms (5–29%) | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Soms (5–29%) | In 1 aandoening |
| EXTL3exostosin like glycosyltransferase 3 | 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 |
| FANCCFA complementation group C | 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 |
| FBXO11F-box protein 11 | Soms (5–29%) | In 1 aandoening |
| FLNBfilamin B | Soms (5–29%) | In 2 aandoeningen |
| FN1fibronectin 1 | Soms (5–29%) | In 1 aandoening |
| FOCADfocadhesin | Soms (5–29%) | In 1 aandoening |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Soms (5–29%) | In 1 aandoening |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Soms (5–29%) | In 1 aandoening |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Soms (5–29%) | In 1 aandoening |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Soms (5–29%) | In 1 aandoening |
| HSPG2heparan sulfate proteoglycan 2 | Soms (5–29%) | In 1 aandoening |
| IRF4interferon regulatory factor 4 | Soms (5–29%) | In 1 aandoening |
| KDM5Alysine demethylase 5A | Soms (5–29%) | In 1 aandoening |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Soms (5–29%) | In 1 aandoening |
| LMO1LIM domain only 1 | Soms (5–29%) | In 1 aandoening |
| LRP4LDL receptor related protein 4 | Soms (5–29%) | In 1 aandoening |
| MAD2L2mitotic arrest deficient 2 like 2 | Soms (5–29%) | In 1 aandoening |
| MAN2B1mannosidase alpha class 2B member 1 | Soms (5–29%) | In 1 aandoening |
| MTX2metaxin 2 | Soms (5–29%) | In 1 aandoening |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Soms (5–29%) | In 1 aandoening |
| MYD88MYD88 innate immune signal transduction adaptor | Soms (5–29%) | In 1 aandoening |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Soms (5–29%) | In 1 aandoening |
| NELFAnegative elongation factor complex member A | Soms (5–29%) | In 1 aandoening |
| NF1neurofibromin 1 | Soms (5–29%) | In 1 aandoening |
| NOTCH3notch receptor 3 | Soms (5–29%) | In 1 aandoening |
| P3H1prolyl 3-hydroxylase 1 | Soms (5–29%) | In 1 aandoening |
| PALB2partner and localizer of BRCA2 | Soms (5–29%) | In 1 aandoening |
| PHOX2Bpaired like homeobox 2B | Soms (5–29%) | In 1 aandoening |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Soms (5–29%) | In 1 aandoening |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Soms (5–29%) | In 1 aandoening |
| PLK4polo like kinase 4 | Soms (5–29%) | In 1 aandoening |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| PRTN3proteinase 3 | Soms (5–29%) | In 1 aandoening |
| PSMB8proteasome 20S subunit beta 8 | Soms (5–29%) | In 1 aandoening |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Soms (5–29%) | In 1 aandoening |
| RAD51RAD51 recombinase | Soms (5–29%) | In 1 aandoening |
| RAD51CRAD51 paralog C | Soms (5–29%) | In 1 aandoening |
| RFWD3ring finger and WD repeat domain 3 | Soms (5–29%) | In 1 aandoening |
| RTTNrotatin | Soms (5–29%) | In 1 aandoening |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Soms (5–29%) | In 2 aandoeningen |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Soms (5–29%) | In 1 aandoening |
| SH3BP2SH3 domain binding protein 2 | Soms (5–29%) | In 2 aandoeningen |
| SLX4SLX4 structure-specific endonuclease subunit | Soms (5–29%) | In 1 aandoening |
| SMAD3SMAD family member 3 | Soms (5–29%) | In 1 aandoening |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Soms (5–29%) | In 1 aandoening |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Soms (5–29%) | In 1 aandoening |
| TBC1D24TBC1 domain family member 24 | Soms (5–29%) | In 1 aandoening |
| TGDSTDP-glucose 4,6-dehydratase | Soms (5–29%) | In 1 aandoening |
| TMEM53transmembrane protein 53 | Soms (5–29%) | In 1 aandoening |
| TNFRSF11ATNF receptor superfamily member 11a | Soms (5–29%) | In 1 aandoening |
| TSHRthyroid stimulating hormone receptor | Soms (5–29%) | In 1 aandoening |
| UBE2Tubiquitin conjugating enzyme E2 T | Soms (5–29%) | In 1 aandoening |
| WASF1WASP family member 1 | Soms (5–29%) | In 1 aandoening |
| WDR26WD repeat domain 26 | Soms (5–29%) | In 1 aandoening |
| WSB2WD repeat and SOCS box containing 2 | Soms (5–29%) | In 1 aandoening |
| XRCC2X-ray repair cross complementing 2 | Soms (5–29%) | In 1 aandoening |
| ZNF699zinc finger protein 699 | Soms (5–29%) | In 1 aandoening |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Zelden (1–4%) | In 1 aandoening |
| BAP1BRCA1 associated deubiquitinase 1 | Zelden (1–4%) | In 1 aandoening |
| EBF3EBF transcription factor 3 | Zelden (1–4%) | In 1 aandoening |
| FGF9fibroblast growth factor 9 | Zelden (1–4%) | In 1 aandoening |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Zelden (1–4%) | In 1 aandoening |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Zelden (1–4%) | In 1 aandoening |
| PDGFBplatelet derived growth factor subunit B | Zelden (1–4%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Zelden (1–4%) | In 1 aandoening |
| SLC39A14solute carrier family 39 member 14 | Zelden (1–4%) | In 1 aandoening |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Zelden (1–4%) | In 1 aandoening |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Zelden (1–4%) | In 1 aandoening |
| SMOsmoothened, frizzled class receptor | Zelden (1–4%) | In 1 aandoening |
| SMSspermine synthase | Zelden (1–4%) | In 1 aandoening |
| SPTBN1spectrin beta, non-erythrocytic 1 | Zelden (1–4%) | In 1 aandoening |
| SUFUSUFU negative regulator of hedgehog signaling | Zelden (1–4%) | In 1 aandoening |
| TERTtelomerase reverse transcriptase | Zelden (1–4%) | In 1 aandoening |
| TRAF7TNF receptor associated factor 7 | Zelden (1–4%) | In 1 aandoening |
| ABCA12ATP binding cassette subfamily A member 12 | Niet vastgelegd | In 1 aandoening |
| ALPLalkaline phosphatase, biomineralization associated | Niet vastgelegd | In 1 aandoening |
| ASPMassembly factor for spindle microtubules | Niet vastgelegd | In 1 aandoening |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Niet vastgelegd | In 1 aandoening |
| CDONcell adhesion associated, oncogene regulated | Niet vastgelegd | In 1 aandoening |
| CKAP2Lcytoskeleton associated protein 2L | Niet vastgelegd | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Niet vastgelegd | In 1 aandoening |
| DDR2discoidin domain receptor tyrosine kinase 2 | Niet vastgelegd | In 1 aandoening |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Niet vastgelegd | In 1 aandoening |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Niet vastgelegd | In 1 aandoening |
| EP300EP300 lysine acetyltransferase | Niet vastgelegd | In 1 aandoening |
| FOXC1forkhead box C1 | Niet vastgelegd | In 1 aandoening |
| IFT81intraflagellar transport 81 | Niet vastgelegd | In 1 aandoening |
| IGF2insulin like growth factor 2 | Niet vastgelegd | In 1 aandoening |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Niet vastgelegd | In 1 aandoening |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Niet vastgelegd | In 1 aandoening |
| MMP2matrix metallopeptidase 2 | Niet vastgelegd | In 1 aandoening |
| MUSKmuscle associated receptor tyrosine kinase | Niet vastgelegd | In 1 aandoening |
| NDE1nudE neurodevelopment protein 1 | Niet vastgelegd | In 1 aandoening |
| NIPBLNIPBL cohesin loading factor | Niet vastgelegd | In 1 aandoening |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| PCLOpiccolo presynaptic cytomatrix protein | Niet vastgelegd | In 1 aandoening |
| POLD1DNA polymerase delta 1, catalytic subunit | Niet vastgelegd | In 1 aandoening |
| PORcytochrome p450 oxidoreductase | Niet vastgelegd | In 2 aandoeningen |
| PRUNE1prune exopolyphosphatase 1 | Niet vastgelegd | In 1 aandoening |
| SHHsonic hedgehog signaling molecule | Niet vastgelegd | In 1 aandoening |
| SKIC3SKI3 subunit of superkiller complex | Niet vastgelegd | In 1 aandoening |
| SLC25A24solute carrier family 25 member 24 | Niet vastgelegd | In 1 aandoening |
| STAG2STAG2 cohesin complex component | Niet vastgelegd | In 1 aandoening |
| TAF1TATA-box binding protein associated factor 1 | Niet vastgelegd | In 1 aandoening |
| THRBthyroid hormone receptor beta | 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
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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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