Kenmerk
Frontal bossing
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Samenvatting
- Ook bekend als
- Frontal protuberance, Skull bossing
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Frontal bossing 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 |
|---|---|---|
| ADKadenosine kinase | Altijd | In 1 aandoening |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Altijd | In 1 aandoening |
| ANKHANKH inorganic pyrophosphate transport regulator | Altijd | In 1 aandoening |
| ANTXR1ANTXR cell adhesion molecule 1 | Altijd | In 2 aandoeningen |
| ARID2AT-rich interaction domain 2 | Altijd | In 1 aandoening |
| AXIN1axin 1 | Altijd | In 1 aandoening |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Altijd | In 1 aandoening |
| CEP57centrosomal protein 57 | Altijd | In 2 aandoeningen |
| CILK1ciliogenesis associated kinase 1 | Altijd | In 1 aandoening |
| COL11A2collagen type XI alpha 2 chain | Altijd | In 1 aandoening |
| COL2A1collagen type II alpha 1 chain | Altijd | In 1 aandoening |
| COX4I1cytochrome c oxidase subunit 4I1 | Altijd | In 1 aandoening |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Altijd | In 1 aandoening |
| CUL7cullin 7 | Altijd | In 2 aandoeningen |
| DDX59DEAD-box helicase 59 | Altijd | In 2 aandoeningen |
| DICER1dicer 1, ribonuclease III | Altijd | In 1 aandoening |
| DNA2DNA replication helicase/nuclease 2 | Altijd | In 1 aandoening |
| DSEdermatan sulfate epimerase | Altijd | In 1 aandoening |
| DVL1dishevelled segment polarity protein 1 | Altijd | In 3 aandoeningen |
| ERI1exoribonuclease 1 | Altijd | In 1 aandoening |
| EXTL3exostosin like glycosyltransferase 3 | Altijd | In 2 aandoeningen |
| FBXL4F-box and leucine rich repeat protein 4 | Altijd | In 1 aandoening |
| FGFR2fibroblast growth factor receptor 2 | Altijd | In 6 aandoeningen |
| FGFR3fibroblast growth factor receptor 3 | Altijd | In 9 aandoeningen |
| GMNNgeminin DNA replication inhibitor | Altijd | In 1 aandoening |
| GNB2G protein subunit beta 2 | Altijd | In 1 aandoening |
| GNSglucosamine (N-acetyl)-6-sulfatase | Altijd | In 1 aandoening |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Altijd | In 1 aandoening |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Altijd | In 1 aandoening |
| IDUAalpha-L-iduronidase | Altijd | In 2 aandoeningen |
| IFT140intraflagellar transport 140 | Altijd | In 2 aandoeningen |
| IFT56intraflagellar transport 56 | Altijd | In 1 aandoening |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Altijd | In 1 aandoening |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altijd | In 1 aandoening |
| ITCHitchy E3 ubiquitin protein ligase | Altijd | In 2 aandoeningen |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altijd | In 1 aandoening |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Altijd | In 1 aandoening |
| JAG1jagged canonical Notch ligand 1 | Altijd | In 1 aandoening |
| KDM6Blysine demethylase 6B | Altijd | In 1 aandoening |
| KIF7kinesin family member 7 | Altijd | In 4 aandoeningen |
Toon nog 415 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| KLF1KLF transcription factor 1 | Altijd | In 1 aandoening |
| KPTNkaptin, actin binding protein | Altijd | In 2 aandoeningen |
| LBRlamin B receptor | Altijd | In 2 aandoeningen |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Altijd | In 1 aandoening |
| NSD1nuclear receptor binding SET domain protein 1 | Altijd | In 1 aandoening |
| OBSL1obscurin like cytoskeletal adaptor 1 | Altijd | In 2 aandoeningen |
| PAK1p21 (RAC1) activated kinase 1 | Altijd | In 1 aandoening |
| PHEXphosphate regulating endopeptidase X-linked | Altijd | In 2 aandoeningen |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Altijd | In 1 aandoening |
| PTCH1patched 1 | Altijd | In 3 aandoeningen |
| RNPC3RNA binding region (RNP1, RRM) containing 3 | Altijd | In 1 aandoening |
| RNU2-2RNA, U2 small nuclear 2 | Altijd | In 1 aandoening |
| RNU5B-1RNA, U5B small nuclear 1 | Altijd | In 1 aandoening |
| RSPRY1ring finger and SPRY domain containing 1 | Altijd | In 2 aandoeningen |
| RUNX2RUNX family transcription factor 2 | Altijd | In 2 aandoeningen |
| SEC23ASEC23 homolog A, COPII component | Altijd | In 2 aandoeningen |
| SEC24DSEC24 homolog D, COPII component | Altijd | In 2 aandoeningen |
| SIK3SIK family kinase 3 | Altijd | In 1 aandoening |
| SOSTsclerostin | Altijd | In 2 aandoeningen |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altijd | In 1 aandoening |
| SUFUSUFU negative regulator of hedgehog signaling | Altijd | In 3 aandoeningen |
| TBX15T-box transcription factor 15 | Altijd | In 2 aandoeningen |
| TIMM50translocase of inner mitochondrial membrane 50 | Altijd | In 1 aandoening |
| VDRvitamin D receptor | Altijd | In 2 aandoeningen |
| WDR35WD repeat domain 35 | Altijd | In 3 aandoeningen |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Altijd | In 1 aandoening |
| AIPAHR interacting HSP90 co-chaperone | Heel vaak (80–99%) | In 2 aandoeningen |
| APCAPC regulator of Wnt signaling pathway | Heel vaak (80–99%) | In 1 aandoening |
| B3GALT6beta-1,3-galactosyltransferase 6 | Heel vaak (80–99%) | In 2 aandoeningen |
| CAMKMTcalmodulin-lysine N-methyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| CCDC22CCC complex scaffolding subunit CCDC22 | Heel vaak (80–99%) | In 1 aandoening |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Heel vaak (80–99%) | In 2 aandoeningen |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Heel vaak (80–99%) | In 2 aandoeningen |
| CHD3chromodomain helicase DNA binding protein 3 | Heel vaak (80–99%) | In 1 aandoening |
| CHD6chromodomain helicase DNA binding protein 6 | Heel vaak (80–99%) | In 1 aandoening |
| CLCN7Cl-/H+ antiporter 7 | Heel vaak (80–99%) | In 1 aandoening |
| COG4component of oligomeric golgi complex 4 | Heel vaak (80–99%) | In 1 aandoening |
| CPLX1complexin 1 | Heel vaak (80–99%) | In 1 aandoening |
| CRTAPcartilage associated protein | Heel vaak (80–99%) | In 1 aandoening |
| CTBP1C-terminal binding protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CTSKcathepsin K | Heel vaak (80–99%) | In 2 aandoeningen |
| CWC27CWC27 spliceosome associated cyclophilin | Heel vaak (80–99%) | In 2 aandoeningen |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Heel vaak (80–99%) | In 1 aandoening |
| DPYSL5dihydropyrimidinase like 5 | Heel vaak (80–99%) | In 1 aandoening |
| EFNB1ephrin B1 | Heel vaak (80–99%) | In 2 aandoeningen |
| GPC6glypican 6 | Heel vaak (80–99%) | In 2 aandoeningen |
| HDAC6histone deacetylase 6 | Heel vaak (80–99%) | In 2 aandoeningen |
| HRASHRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 1 aandoening |
| IFT122intraflagellar transport 122 | Heel vaak (80–99%) | In 2 aandoeningen |
| IFT43intraflagellar transport 43 | Heel vaak (80–99%) | In 2 aandoeningen |
| IFT52intraflagellar transport 52 | Heel vaak (80–99%) | In 1 aandoening |
| INPPL1inositol polyphosphate phosphatase like 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| KRASKRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 3 aandoeningen |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| LRP4LDL receptor related protein 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| MEN1menin 1 | Heel vaak (80–99%) | In 1 aandoening |
| NELFAnegative elongation factor complex member A | Heel vaak (80–99%) | In 1 aandoening |
| NLRP3NLR family pyrin domain containing 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| NRASNRAS proto-oncogene, GTPase | Heel vaak (80–99%) | In 1 aandoening |
| NSD2nuclear receptor binding SET domain protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| OFD1OFD1 centriole and centriolar satellite protein | Heel vaak (80–99%) | In 4 aandoeningen |
| P4HBprolyl 4-hydroxylase subunit beta | Heel vaak (80–99%) | In 2 aandoeningen |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| PCGF2polycomb group ring finger 2 | Heel vaak (80–99%) | In 1 aandoening |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Heel vaak (80–99%) | In 1 aandoening |
| POLEDNA polymerase epsilon, catalytic subunit | Heel vaak (80–99%) | In 2 aandoeningen |
| POLR3ARNA polymerase III subunit A | Heel vaak (80–99%) | In 2 aandoeningen |
| PPM1Bprotein phosphatase, Mg2+/Mn2+ dependent 1B | Heel vaak (80–99%) | In 1 aandoening |
| PREPLprolyl endopeptidase like | Heel vaak (80–99%) | In 2 aandoeningen |
| RAB39BRAB39B, member RAS oncogene family | Heel vaak (80–99%) | In 2 aandoeningen |
| RAI1retinoic acid induced 1 | Heel vaak (80–99%) | In 1 aandoening |
| RECQL4RecQ like helicase 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| RNU12RNA, U12 small nuclear | Heel vaak (80–99%) | In 2 aandoeningen |
| RPS6KA3ribosomal protein S6 kinase A3 | Heel vaak (80–99%) | In 3 aandoeningen |
| SETBP1SET binding protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SIX2SIX homeobox 2 | Heel vaak (80–99%) | In 1 aandoening |
| SLC26A2solute carrier family 26 member 2 | Heel vaak (80–99%) | In 1 aandoening |
| SLC3A1solute carrier family 3 member 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SMOC1SPARC related modular calcium binding 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SP7Sp7 transcription factor | Heel vaak (80–99%) | In 1 aandoening |
| TBC1D7TBC1 domain family member 7 | Heel vaak (80–99%) | In 1 aandoening |
| TRIM37tripartite motif containing 37 | Heel vaak (80–99%) | In 1 aandoening |
| TRIP11thyroid hormone receptor interactor 11 | Heel vaak (80–99%) | In 2 aandoeningen |
| TRPS1transcriptional repressor GATA binding 1 | Heel vaak (80–99%) | In 1 aandoening |
| VPS35LVPS35 endosomal protein sorting factor like | Heel vaak (80–99%) | In 1 aandoening |
| WASHC5WASH complex subunit 5 | Heel vaak (80–99%) | In 1 aandoening |
| WDR19WD repeat domain 19 | Heel vaak (80–99%) | In 2 aandoeningen |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Heel vaak (80–99%) | In 1 aandoening |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Vaak (30–79%) | In 1 aandoening |
| AGO2argonaute RISC catalytic component 2 | Vaak (30–79%) | In 1 aandoening |
| ALX4ALX homeobox 4 | Vaak (30–79%) | In 2 aandoeningen |
| AMER1APC membrane recruitment protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| ANKRD11ankyrin repeat domain 11 | Vaak (30–79%) | In 1 aandoening |
| ARID1BAT-rich interaction domain 1B | Vaak (30–79%) | In 1 aandoening |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Vaak (30–79%) | In 1 aandoening |
| B3GLCTbeta 3-glucosyltransferase | Vaak (30–79%) | In 2 aandoeningen |
| B9D1B9 domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| BGNbiglycan | Vaak (30–79%) | In 1 aandoening |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Vaak (30–79%) | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Vaak (30–79%) | In 1 aandoening |
| CDH2cadherin 2 | Vaak (30–79%) | In 1 aandoening |
| CHD1chromodomain helicase DNA binding protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| CHST3carbohydrate sulfotransferase 3 | Vaak (30–79%) | In 1 aandoening |
| CKAP2Lcytoskeleton associated protein 2L | Vaak (30–79%) | In 1 aandoening |
| COL11A1collagen type XI alpha 1 chain | Vaak (30–79%) | In 3 aandoeningen |
| COL1A1collagen type I alpha 1 chain | Vaak (30–79%) | In 2 aandoeningen |
| COL1A2collagen type I alpha 2 chain | Vaak (30–79%) | In 2 aandoeningen |
| COX5Acytochrome c oxidase subunit 5A | Vaak (30–79%) | In 1 aandoening |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| CSPP1centrosome and spindle pole associated protein 1 | Vaak (30–79%) | In 1 aandoening |
| CTNNB1catenin beta 1 | Vaak (30–79%) | In 1 aandoening |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Vaak (30–79%) | In 2 aandoeningen |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Vaak (30–79%) | In 2 aandoeningen |
| DLX3distal-less homeobox 3 | Vaak (30–79%) | In 2 aandoeningen |
| DLX5distal-less homeobox 5 | Vaak (30–79%) | In 1 aandoening |
| DVL3dishevelled segment polarity protein 3 | Vaak (30–79%) | In 2 aandoeningen |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Vaak (30–79%) | In 1 aandoening |
| DYNC2I1dynein 2 intermediate chain 1 | Vaak (30–79%) | In 1 aandoening |
| DYNC2I2dynein 2 intermediate chain 2 | Vaak (30–79%) | In 1 aandoening |
| EBPEBP cholestenol delta-isomerase | Vaak (30–79%) | In 2 aandoeningen |
| EDAectodysplasin A | Vaak (30–79%) | In 2 aandoeningen |
| EDA2Rectodysplasin A2 receptor | Vaak (30–79%) | In 1 aandoening |
| EMC10ER membrane protein complex subunit 10 | Vaak (30–79%) | In 1 aandoening |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Vaak (30–79%) | In 1 aandoening |
| FAM149B1family with sequence similarity 149 member B1 | Vaak (30–79%) | In 1 aandoening |
| FAM177A1family with sequence similarity 177 member A1 | Vaak (30–79%) | In 1 aandoening |
| FBN1fibrillin 1 | Vaak (30–79%) | In 1 aandoening |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Vaak (30–79%) | In 1 aandoening |
| FHfumarate hydratase | Vaak (30–79%) | In 2 aandoeningen |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Vaak (30–79%) | In 1 aandoening |
| FLNAfilamin A | Vaak (30–79%) | In 3 aandoeningen |
| FMR1fragile X messenger ribonucleoprotein 1 | Vaak (30–79%) | In 1 aandoening |
| FZD2frizzled class receptor 2 | Vaak (30–79%) | In 3 aandoeningen |
| GLI3GLI family zinc finger 3 | Vaak (30–79%) | In 2 aandoeningen |
| GPR101G protein-coupled receptor 101 | Vaak (30–79%) | In 1 aandoening |
| HDAC4histone deacetylase 4 | Vaak (30–79%) | In 1 aandoening |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Vaak (30–79%) | In 1 aandoening |
| HYAL2hyaluronidase 2 | Vaak (30–79%) | In 1 aandoening |
| IFT80intraflagellar transport 80 | Vaak (30–79%) | In 1 aandoening |
| IGF2insulin like growth factor 2 | Vaak (30–79%) | In 3 aandoeningen |
| IL11RAinterleukin 11 receptor subunit alpha | Vaak (30–79%) | In 1 aandoening |
| INTS1integrator complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| IPO8importin 8 | Vaak (30–79%) | In 1 aandoening |
| KAT6Alysine acetyltransferase 6A | Vaak (30–79%) | In 1 aandoening |
| KIAA0586KIAA0586 | Vaak (30–79%) | In 1 aandoening |
| KIAA0753KIAA0753 | Vaak (30–79%) | In 3 aandoeningen |
| KIDINS220kinase D interacting substrate 220 | Vaak (30–79%) | In 1 aandoening |
| KYNUkynureninase | Vaak (30–79%) | In 1 aandoening |
| LIFRLIF receptor subunit alpha | Vaak (30–79%) | In 1 aandoening |
| LRRC7leucine rich repeat containing 7 | Vaak (30–79%) | In 1 aandoening |
| MAP2K1mitogen-activated protein kinase kinase 1 | Vaak (30–79%) | In 1 aandoening |
| MAP2K2mitogen-activated protein kinase kinase 2 | Vaak (30–79%) | In 1 aandoening |
| MITFmelanocyte inducing transcription factor | Vaak (30–79%) | In 1 aandoening |
| MTORmechanistic target of rapamycin kinase | Vaak (30–79%) | In 2 aandoeningen |
| NCAPG2non-SMC condensin II complex subunit G2 | Vaak (30–79%) | In 1 aandoening |
| NEU1neuraminidase 1 | Vaak (30–79%) | In 1 aandoening |
| NFIAnuclear factor I A | Vaak (30–79%) | In 1 aandoening |
| NFIXnuclear factor I X | Vaak (30–79%) | In 2 aandoeningen |
| NONOnon-POU domain containing octamer binding | Vaak (30–79%) | In 2 aandoeningen |
| NPR2natriuretic peptide receptor 2 | Vaak (30–79%) | In 2 aandoeningen |
| NXNnucleoredoxin | Vaak (30–79%) | In 2 aandoeningen |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Vaak (30–79%) | In 1 aandoening |
| OSGEPO-sialoglycoprotein endopeptidase | Vaak (30–79%) | In 1 aandoening |
| PDE4Dphosphodiesterase 4D | Vaak (30–79%) | In 2 aandoeningen |
| PDE6Dphosphodiesterase 6D | Vaak (30–79%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Vaak (30–79%) | In 1 aandoening |
| POLD3DNA polymerase delta 3, accessory subunit | Vaak (30–79%) | In 1 aandoening |
| POLR1BRNA polymerase I subunit B | Vaak (30–79%) | In 1 aandoening |
| POLR1CRNA polymerase I and III subunit C | Vaak (30–79%) | In 1 aandoening |
| POLR1DRNA polymerase I and III subunit D | Vaak (30–79%) | In 1 aandoening |
| PRIM1DNA primase subunit 1 | Vaak (30–79%) | In 1 aandoening |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Vaak (30–79%) | In 1 aandoening |
| PRKD1protein kinase D1 | Vaak (30–79%) | In 1 aandoening |
| ROR2ROR family WNT receptor 2 | Vaak (30–79%) | In 2 aandoeningen |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Vaak (30–79%) | In 2 aandoeningen |
| SKISKI proto-oncogene | Vaak (30–79%) | In 3 aandoeningen |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Vaak (30–79%) | In 1 aandoening |
| SNX14sorting nexin 14 | Vaak (30–79%) | In 1 aandoening |
| SOX5SRY-box transcription factor 5 | Vaak (30–79%) | In 2 aandoeningen |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Vaak (30–79%) | In 1 aandoening |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Vaak (30–79%) | In 1 aandoening |
| TBX4T-box transcription factor 4 | Vaak (30–79%) | In 1 aandoening |
| TCOF1treacle ribosome biogenesis factor 1 | Vaak (30–79%) | In 1 aandoening |
| TCTN3tectonic family member 3 | Vaak (30–79%) | In 1 aandoening |
| TMEM216transmembrane protein 216 | Vaak (30–79%) | In 2 aandoeningen |
| TMEM231transmembrane protein 231 | Vaak (30–79%) | In 1 aandoening |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Vaak (30–79%) | In 1 aandoening |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Vaak (30–79%) | In 1 aandoening |
| TRIOtrio Rho guanine nucleotide exchange factor | Vaak (30–79%) | In 1 aandoening |
| TWIST1twist family bHLH transcription factor 1 | Vaak (30–79%) | In 2 aandoeningen |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Vaak (30–79%) | In 1 aandoening |
| WNT5AWnt family member 5A | Vaak (30–79%) | In 2 aandoeningen |
| ZIC1Zic family zinc finger 1 | Vaak (30–79%) | In 1 aandoening |
| ZIC4Zic family zinc finger 4 | Vaak (30–79%) | In 1 aandoening |
| ZNF148zinc finger protein 148 | Vaak (30–79%) | In 1 aandoening |
| ACP5acid phosphatase 5, tartrate resistant | Soms (5–29%) | In 1 aandoening |
| AHDC1AT-hook DNA binding motif containing 1 | Soms (5–29%) | In 1 aandoening |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Soms (5–29%) | In 2 aandoeningen |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Soms (5–29%) | In 1 aandoening |
| ATAD3AATPase family AAA domain containing 3A | Soms (5–29%) | In 1 aandoening |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Soms (5–29%) | In 1 aandoening |
| BAP1BRCA1 associated deubiquitinase 1 | Soms (5–29%) | In 1 aandoening |
| BMPR1Abone morphogenetic protein receptor type 1A | 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 |
| BRWD3bromodomain and WD repeat domain containing 3 | Soms (5–29%) | In 1 aandoening |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Soms (5–29%) | In 1 aandoening |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Soms (5–29%) | In 1 aandoening |
| BUB3BUB3 mitotic checkpoint protein | Soms (5–29%) | In 1 aandoening |
| CASZ1castor zinc finger 1 | Soms (5–29%) | In 1 aandoening |
| CDC42BPBCDC42 binding protein kinase beta | Soms (5–29%) | In 1 aandoening |
| CHD5chromodomain helicase DNA binding protein 5 | Soms (5–29%) | In 1 aandoening |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Soms (5–29%) | In 1 aandoening |
| CLCN3Cl-/H+ antiporter 3 | Soms (5–29%) | In 1 aandoening |
| CNTNAP2contactin associated protein 2 | Soms (5–29%) | In 1 aandoening |
| COL9A2collagen type IX alpha 2 chain | Soms (5–29%) | In 1 aandoening |
| CUX1cut like homeobox 1 | Soms (5–29%) | In 1 aandoening |
| DDX6DEAD-box helicase 6 | Soms (5–29%) | In 1 aandoening |
| DEAF1DEAF1 transcription factor | Soms (5–29%) | In 1 aandoening |
| DHCR2424-dehydrocholesterol reductase | Soms (5–29%) | In 2 aandoeningen |
| DLK1delta like non-canonical Notch ligand 1 | Soms (5–29%) | In 1 aandoening |
| EIF5Aeukaryotic translation initiation factor 5A | Soms (5–29%) | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Soms (5–29%) | In 1 aandoening |
| FAAP100FA core complex associated protein 100 | Soms (5–29%) | In 1 aandoening |
| FANCAFA complementation group A | Soms (5–29%) | In 1 aandoening |
| FANCBFA complementation group B | Soms (5–29%) | In 1 aandoening |
| 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 5 aandoeningen |
| FRYLFRY like transcription coactivator | Soms (5–29%) | In 1 aandoening |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Soms (5–29%) | In 1 aandoening |
| GATAD2BGATA zinc finger domain containing 2B | Soms (5–29%) | In 1 aandoening |
| GLB1galactosidase beta 1 | Soms (5–29%) | In 2 aandoeningen |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| GRB10growth factor receptor bound protein 10 | Soms (5–29%) | In 1 aandoening |
| H3-3BH3.3 histone B | Soms (5–29%) | In 1 aandoening |
| HBA1hemoglobin subunit alpha 1 | Soms (5–29%) | In 1 aandoening |
| HBA2hemoglobin subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| HBBhemoglobin subunit beta | Soms (5–29%) | In 2 aandoeningen |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Soms (5–29%) | In 1 aandoening |
| HK1hexokinase 1 | Soms (5–29%) | In 1 aandoening |
| HMGA2high mobility group AT-hook 2 | Soms (5–29%) | In 2 aandoeningen |
| HMOX1heme oxygenase 1 | Soms (5–29%) | In 1 aandoening |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Soms (5–29%) | In 1 aandoening |
| HOXD13homeobox D13 | Soms (5–29%) | In 1 aandoening |
| HSPG2heparan sulfate proteoglycan 2 | Soms (5–29%) | In 1 aandoening |
| JARID2jumonji and AT-rich interaction domain containing 2 | Soms (5–29%) | In 1 aandoening |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Soms (5–29%) | In 1 aandoening |
| KCTD1potassium channel tetramerization domain containing 1 | Soms (5–29%) | In 1 aandoening |
| KDM5Alysine demethylase 5A | Soms (5–29%) | In 1 aandoening |
| KMT2Blysine methyltransferase 2B | Soms (5–29%) | In 1 aandoening |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Soms (5–29%) | In 1 aandoening |
| LARS1leucyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| LEMD3LEM domain containing 3 | Soms (5–29%) | In 1 aandoening |
| LRP5LDL receptor related protein 5 | Soms (5–29%) | In 1 aandoening |
| LUZP1leucine zipper protein 1 | Soms (5–29%) | In 1 aandoening |
| MAD2L2mitotic arrest deficient 2 like 2 | Soms (5–29%) | In 1 aandoening |
| MADDMAP kinase activating death domain | Soms (5–29%) | In 1 aandoening |
| MAN1B1mannosidase alpha class 1B member 1 | Soms (5–29%) | In 1 aandoening |
| MAU2MAU2 sister chromatid cohesion factor | Soms (5–29%) | In 1 aandoening |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Soms (5–29%) | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Soms (5–29%) | In 1 aandoening |
| MED16mediator complex subunit 16 | Soms (5–29%) | In 1 aandoening |
| MED27mediator complex subunit 27 | Soms (5–29%) | In 1 aandoening |
| MEG3maternally expressed 3 | Soms (5–29%) | In 1 aandoening |
| MEGF8multiple EGF like domains 8 | Soms (5–29%) | In 1 aandoening |
| MMP23Bmatrix metallopeptidase 23B | Soms (5–29%) | In 1 aandoening |
| MSL2MSL complex subunit 2 | Soms (5–29%) | In 1 aandoening |
| MTX2metaxin 2 | Soms (5–29%) | In 1 aandoening |
| MYH3myosin heavy chain 3 | Soms (5–29%) | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NKX6-2NK6 homeobox 2 | Soms (5–29%) | In 1 aandoening |
| NTNG2netrin G2 | Soms (5–29%) | In 1 aandoening |
| PALB2partner and localizer of BRCA2 | Soms (5–29%) | In 1 aandoening |
| PDGFRBplatelet derived growth factor receptor beta | Soms (5–29%) | In 1 aandoening |
| PDPNpodoplanin | Soms (5–29%) | In 1 aandoening |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Soms (5–29%) | In 1 aandoening |
| PLAG1PLAG1 zinc finger | Soms (5–29%) | In 1 aandoening |
| PLCH1phospholipase C eta 1 | Soms (5–29%) | In 1 aandoening |
| PNPLA6patatin like domain 6, lysophospholipase | Soms (5–29%) | In 1 aandoening |
| PORcytochrome p450 oxidoreductase | Soms (5–29%) | In 3 aandoeningen |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Soms (5–29%) | In 1 aandoening |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| PRDM16PR/SET domain 16 | Soms (5–29%) | In 1 aandoening |
| PRDM5PR/SET domain 5 | Soms (5–29%) | In 1 aandoening |
| PRKCZprotein kinase C zeta | Soms (5–29%) | In 1 aandoening |
| PTBP1polypyrimidine tract binding protein 1 | Soms (5–29%) | In 1 aandoening |
| PTCH2patched 2 | Soms (5–29%) | In 1 aandoening |
| PTENphosphatase and tensin homolog | Soms (5–29%) | In 4 aandoeningen |
| PTHLHparathyroid hormone like hormone | Soms (5–29%) | In 1 aandoening |
| PURApurine rich element binding protein A | Soms (5–29%) | In 1 aandoening |
| RAD51RAD51 recombinase | Soms (5–29%) | In 1 aandoening |
| RAD51CRAD51 paralog C | Soms (5–29%) | In 1 aandoening |
| REREarginine-glutamic acid dipeptide repeats | Soms (5–29%) | In 3 aandoeningen |
| RFWD3ring finger and WD repeat domain 3 | Soms (5–29%) | In 1 aandoening |
| RFX7regulatory factor X7 | Soms (5–29%) | In 1 aandoening |
| RTL1retrotransposon Gag like 1 | Soms (5–29%) | In 1 aandoening |
| SALL4spalt like transcription factor 4 | Soms (5–29%) | In 1 aandoening |
| SATB2SATB homeobox 2 | Soms (5–29%) | In 2 aandoeningen |
| SCNM1sodium channel modifier 1 | Soms (5–29%) | In 1 aandoening |
| SIN3ASIN3 transcription regulator family member A | Soms (5–29%) | In 1 aandoening |
| SLX4SLX4 structure-specific endonuclease subunit | Soms (5–29%) | In 1 aandoening |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Soms (5–29%) | In 1 aandoening |
| SMC3structural maintenance of chromosomes 3 | Soms (5–29%) | In 1 aandoening |
| SMC5structural maintenance of chromosomes 5 | Soms (5–29%) | In 1 aandoening |
| SMG8SMG8 nonsense mediated mRNA decay factor | Soms (5–29%) | In 1 aandoening |
| SONSON DNA and RNA binding protein | Soms (5–29%) | In 2 aandoeningen |
| SOX9SRY-box transcription factor 9 | Soms (5–29%) | In 1 aandoening |
| SPENspen family transcriptional repressor | Soms (5–29%) | In 2 aandoeningen |
| SPOPspeckle type BTB/POZ protein | Soms (5–29%) | In 1 aandoening |
| TBC1D24TBC1 domain family member 24 | Soms (5–29%) | In 1 aandoening |
| TBCBtubulin folding cofactor B | Soms (5–29%) | In 1 aandoening |
| TBCDtubulin folding cofactor D | Soms (5–29%) | In 1 aandoening |
| TGFB1transforming growth factor beta 1 | Soms (5–29%) | In 1 aandoening |
| TONSLtonsoku like, DNA repair protein | Soms (5–29%) | In 2 aandoeningen |
| TRIP13thyroid hormone receptor interactor 13 | Soms (5–29%) | In 1 aandoening |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Soms (5–29%) | In 1 aandoening |
| UBE2Tubiquitin conjugating enzyme E2 T | Soms (5–29%) | In 1 aandoening |
| UBE4Bubiquitination factor E4B | Soms (5–29%) | In 1 aandoening |
| UGP2UDP-glucose pyrophosphorylase 2 | Soms (5–29%) | In 1 aandoening |
| WDR83OSWD repeat domain 83 opposite strand | Soms (5–29%) | In 1 aandoening |
| WWOXWW domain containing oxidoreductase | Soms (5–29%) | In 1 aandoening |
| XRCC2X-ray repair cross complementing 2 | Soms (5–29%) | In 1 aandoening |
| ZEB2zinc finger E-box binding homeobox 2 | Soms (5–29%) | In 1 aandoening |
| ZFXzinc finger protein X-linked | Soms (5–29%) | In 1 aandoening |
| ZNF469zinc finger protein 469 | Soms (5–29%) | In 1 aandoening |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Soms (5–29%) | In 1 aandoening |
| EBF3EBF transcription factor 3 | Zelden (1–4%) | In 1 aandoening |
| EPB41erythrocyte membrane protein band 4.1 | Zelden (1–4%) | In 1 aandoening |
| GYPCglycophorin C (Gerbich blood group) | Zelden (1–4%) | In 1 aandoening |
| H3-3AH3.3 histone A | Zelden (1–4%) | In 1 aandoening |
| HEPACAMhepatic and glial cell adhesion molecule | Zelden (1–4%) | In 1 aandoening |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Zelden (1–4%) | In 1 aandoening |
| SPTA1spectrin alpha, erythrocytic 1 | Zelden (1–4%) | In 1 aandoening |
| SPTBspectrin beta, erythrocytic | Zelden (1–4%) | In 1 aandoening |
| ACANaggrecan | Niet vastgelegd | In 1 aandoening |
| ACOX1acyl-CoA oxidase 1 | Niet vastgelegd | In 1 aandoening |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Niet vastgelegd | In 1 aandoening |
| ALPLalkaline phosphatase, biomineralization associated | Niet vastgelegd | In 1 aandoening |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Niet vastgelegd | In 1 aandoening |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Niet vastgelegd | In 1 aandoening |
| B9D2B9 domain containing 2 | Niet vastgelegd | In 1 aandoening |
| C12orf57chromosome 12 open reading frame 57 | Niet vastgelegd | In 1 aandoening |
| CBLCbl proto-oncogene | Niet vastgelegd | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Niet vastgelegd | In 1 aandoening |
| CRPPACDP-L-ribitol pyrophosphorylase A | Niet vastgelegd | In 1 aandoening |
| CTNScystinosin, lysosomal cystine transporter | Niet vastgelegd | In 1 aandoening |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Niet vastgelegd | In 1 aandoening |
| DDR2discoidin domain receptor tyrosine kinase 2 | Niet vastgelegd | In 1 aandoening |
| DENND5ADENN domain containing 5A | Niet vastgelegd | In 1 aandoening |
| EDARectodysplasin A receptor | Niet vastgelegd | In 1 aandoening |
| EDARADDEDAR associated via death domain | Niet vastgelegd | In 1 aandoening |
| EP300EP300 lysine acetyltransferase | Niet vastgelegd | In 1 aandoening |
| FBN2fibrillin 2 | Niet vastgelegd | In 1 aandoening |
| FUCA1alpha-L-fucosidase 1 | Niet vastgelegd | In 1 aandoening |
| GJA1gap junction protein alpha 1 | Niet vastgelegd | In 1 aandoening |
| GJA5gap junction protein alpha 5 | Niet vastgelegd | In 1 aandoening |
| GJA8gap junction protein alpha 8 | Niet vastgelegd | In 1 aandoening |
| GKglycerol kinase | Niet vastgelegd | In 1 aandoening |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Niet vastgelegd | In 1 aandoening |
| INTUinturned planar cell polarity protein | Niet vastgelegd | In 1 aandoening |
| KATNIPkatanin interacting protein | Niet vastgelegd | In 1 aandoening |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Niet vastgelegd | In 1 aandoening |
| KDM1Alysine demethylase 1A | Niet vastgelegd | In 1 aandoening |
| MAGEL2MAGE family member L2 | Niet vastgelegd | In 1 aandoening |
| MAN2B1mannosidase alpha class 2B member 1 | Niet vastgelegd | In 1 aandoening |
| MBD5methyl-CpG binding domain protein 5 | Niet vastgelegd | In 1 aandoening |
| MED12mediator complex subunit 12 | Niet vastgelegd | In 2 aandoeningen |
| MED13Lmediator complex subunit 13L | Niet vastgelegd | In 1 aandoening |
| MID1midline 1 | Niet vastgelegd | In 1 aandoening |
| MMP2matrix metallopeptidase 2 | Niet vastgelegd | In 1 aandoening |
| MOCS1molybdenum cofactor synthesis 1 | Niet vastgelegd | In 1 aandoening |
| MOCS2molybdenum cofactor synthesis 2 | Niet vastgelegd | In 1 aandoening |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Niet vastgelegd | In 1 aandoening |
| MSX2msh homeobox 2 | Niet vastgelegd | In 1 aandoening |
| NFKBIANFKB inhibitor alpha | Niet vastgelegd | In 1 aandoening |
| OPHN1oligophrenin 1 | Niet vastgelegd | In 1 aandoening |
| ORC1origin recognition complex subunit 1 | Niet vastgelegd | In 1 aandoening |
| PAM16presequence translocase associated motor 16 | Niet vastgelegd | In 1 aandoening |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Niet vastgelegd | In 1 aandoening |
| PEX5peroxisomal biogenesis factor 5 | Niet vastgelegd | In 1 aandoening |
| PEX7peroxisomal biogenesis factor 7 | Niet vastgelegd | In 1 aandoening |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Niet vastgelegd | In 1 aandoening |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Niet vastgelegd | In 1 aandoening |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Niet vastgelegd | In 1 aandoening |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Niet vastgelegd | In 1 aandoening |
| PLA2G6phospholipase A2 group VI | Niet vastgelegd | In 1 aandoening |
| POU1F1POU class 1 homeobox 1 | Niet vastgelegd | In 1 aandoening |
| PRMT7protein arginine methyltransferase 7 | Niet vastgelegd | In 1 aandoening |
| PTDSS1phosphatidylserine synthase 1 | Niet vastgelegd | In 1 aandoening |
| PYCR1pyrroline-5-carboxylate reductase 1 | Niet vastgelegd | In 1 aandoening |
| SIX6SIX homeobox 6 | Niet vastgelegd | In 1 aandoening |
| SKIC3SKI3 subunit of superkiller complex | Niet vastgelegd | In 1 aandoening |
| SLC34A3solute carrier family 34 member 3 | Niet vastgelegd | In 1 aandoening |
| SLC39A13solute carrier family 39 member 13 | Niet vastgelegd | In 1 aandoening |
| SNX10sorting nexin 10 | Niet vastgelegd | In 1 aandoening |
| SOX2SRY-box transcription factor 2 | Niet vastgelegd | In 1 aandoening |
| SPRTNSprT-like N-terminal domain | Niet vastgelegd | In 1 aandoening |
| STAG2STAG2 cohesin complex component | Niet vastgelegd | In 1 aandoening |
| STAT3signal transducer and activator of transcription 3 | Niet vastgelegd | In 1 aandoening |
| TBCEtubulin folding cofactor E | Niet vastgelegd | In 1 aandoening |
| TCF20transcription factor 20 | Niet vastgelegd | In 1 aandoening |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Niet vastgelegd | In 1 aandoening |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Niet vastgelegd | In 1 aandoening |
| UNC80unc-80 subunit of NALCN channel complex | 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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