Kenmerk
Big calvaria
Klinische naam: Macrocephaly
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Samenvatting
- Ook bekend als
- Big cranium, Big head, Big skull, Increased size of head, Increased size of skull, Large head, Large head circumference, Large skull, Increased size of cranium, Macrocephalus, Macrocrania, Megacephaly
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Big calvaria 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 |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Altijd | In 1 aandoening |
| ANKHANKH inorganic pyrophosphate transport regulator | Altijd | In 1 aandoening |
| APC2APC regulator of Wnt signaling pathway 2 | Altijd | In 2 aandoeningen |
| AQP4aquaporin 4 | Altijd | In 1 aandoening |
| ASH1LASH1 like histone lysine methyltransferase | Altijd | In 1 aandoening |
| ASXL2ASXL transcriptional regulator 2 | Altijd | In 1 aandoening |
| AXIN1axin 1 | Altijd | In 1 aandoening |
| B4GALT1beta-1,4-galactosyltransferase 1 | Altijd | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Altijd | In 4 aandoeningen |
| CNTNAP2contactin associated protein 2 | Altijd | In 1 aandoening |
| CWC27CWC27 spliceosome associated cyclophilin | Altijd | In 1 aandoening |
| DICER1dicer 1, ribonuclease III | Altijd | In 1 aandoening |
| DSTdystonin | Altijd | In 1 aandoening |
| DVL1dishevelled segment polarity protein 1 | Altijd | In 3 aandoeningen |
| EEDembryonic ectoderm development | Altijd | In 1 aandoening |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altijd | In 1 aandoening |
| EML1EMAP like 1 | Altijd | In 1 aandoening |
| EXT2exostosin glycosyltransferase 2 | Altijd | In 2 aandoeningen |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Altijd | In 2 aandoeningen |
| FBN1fibrillin 1 | Altijd | In 1 aandoening |
| FEM1Bfem-1 homolog B | Altijd | In 1 aandoening |
| FGFR3fibroblast growth factor receptor 3 | Altijd | In 10 aandoeningen |
| FIBPFGF1 intracellular binding protein | Altijd | In 2 aandoeningen |
| FLNAfilamin A | Altijd | In 1 aandoening |
| GANgigaxonin | Altijd | In 1 aandoening |
| GNB2G protein subunit beta 2 | Altijd | In 1 aandoening |
| GNSglucosamine (N-acetyl)-6-sulfatase | Altijd | In 1 aandoening |
| GPRC5BG protein-coupled receptor class C group 5 member B | Altijd | In 1 aandoening |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Altijd | In 1 aandoening |
| HEPACAMhepatic and glial cell adhesion molecule | Altijd | In 4 aandoeningen |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Altijd | In 2 aandoeningen |
| IDUAalpha-L-iduronidase | Altijd | In 1 aandoening |
| IFT74intraflagellar transport 74 | Altijd | In 1 aandoening |
| IGBP1immunoglobulin binding protein 1 | Altijd | In 2 aandoeningen |
| IL6STinterleukin 6 cytokine family signal transducer | Altijd | In 1 aandoening |
| JKAMPJNK1/MAPK8 associated membrane protein | Altijd | In 1 aandoening |
| KDM2Blysine demethylase 2B | Altijd | In 1 aandoening |
| KDM6Blysine demethylase 6B | Altijd | In 1 aandoening |
| KIF7kinesin family member 7 | Altijd | In 4 aandoeningen |
| LRRC7leucine rich repeat containing 7 | Altijd | In 1 aandoening |
Toon nog 386 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| MITFmelanocyte inducing transcription factor | Altijd | In 1 aandoening |
| MLC1modulator of VRAC current 1 | Altijd | In 1 aandoening |
| MTORmechanistic target of rapamycin kinase | Altijd | In 3 aandoeningen |
| NFIAnuclear factor I A | Altijd | In 2 aandoeningen |
| NFIXnuclear factor I X | Altijd | In 2 aandoeningen |
| NONOnon-POU domain containing octamer binding | Altijd | In 1 aandoening |
| ODC1ornithine decarboxylase 1 | Altijd | In 2 aandoeningen |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Altijd | In 1 aandoening |
| PLECplectin | Altijd | In 1 aandoening |
| PLGplasminogen | Altijd | In 1 aandoening |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Altijd | In 1 aandoening |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Altijd | In 1 aandoening |
| RIN2Ras and Rab interactor 2 | Altijd | In 1 aandoening |
| RNF125ring finger protein 125 | Altijd | In 1 aandoening |
| RRAGCRas related GTP binding C | Altijd | In 1 aandoening |
| SONSON DNA and RNA binding protein | Altijd | In 1 aandoening |
| SPIN4spindlin family member 4 | Altijd | In 1 aandoening |
| SUFUSUFU negative regulator of hedgehog signaling | Altijd | In 3 aandoeningen |
| TBC1D7TBC1 domain family member 7 | Altijd | In 2 aandoeningen |
| TBX15T-box transcription factor 15 | Altijd | In 2 aandoeningen |
| TCF20transcription factor 20 | Altijd | In 1 aandoening |
| THOC2THO complex subunit 2 | Altijd | In 1 aandoening |
| TRIP11thyroid hormone receptor interactor 11 | Altijd | In 2 aandoeningen |
| ZFXzinc finger protein X-linked | Altijd | In 1 aandoening |
| ADKadenosine kinase | Heel vaak (80–99%) | In 1 aandoening |
| AKT3AKT serine/threonine kinase 3 | Heel vaak (80–99%) | In 3 aandoeningen |
| ANTXR2ANTXR cell adhesion molecule 2 | Heel vaak (80–99%) | In 1 aandoening |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Heel vaak (80–99%) | In 1 aandoening |
| ASPAaspartoacylase | Heel vaak (80–99%) | In 3 aandoeningen |
| B4GALT7beta-1,4-galactosyltransferase 7 | Heel vaak (80–99%) | In 2 aandoeningen |
| CCND2cyclin D2 | Heel vaak (80–99%) | In 2 aandoeningen |
| CHD4chromodomain helicase DNA binding protein 4 | Heel vaak (80–99%) | In 1 aandoening |
| CLCN7Cl-/H+ antiporter 7 | Heel vaak (80–99%) | In 2 aandoeningen |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Heel vaak (80–99%) | In 1 aandoening |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Heel vaak (80–99%) | In 1 aandoening |
| DMPKDM1 protein kinase | Heel vaak (80–99%) | In 1 aandoening |
| DNMT3ADNA methyltransferase 3 alpha | Heel vaak (80–99%) | In 2 aandoeningen |
| FAM177A1family with sequence similarity 177 member A1 | Heel vaak (80–99%) | In 1 aandoening |
| FGFR2fibroblast growth factor receptor 2 | Heel vaak (80–99%) | In 1 aandoening |
| GLI3GLI family zinc finger 3 | Heel vaak (80–99%) | In 4 aandoeningen |
| GPC3glypican 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| GPC4glypican 4 | Heel vaak (80–99%) | In 3 aandoeningen |
| GUSBglucuronidase beta | Heel vaak (80–99%) | In 1 aandoening |
| HRASHRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 2 aandoeningen |
| IDSiduronate 2-sulfatase | Heel vaak (80–99%) | In 1 aandoening |
| INPPL1inositol polyphosphate phosphatase like 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| KPTNkaptin, actin binding protein | Heel vaak (80–99%) | In 2 aandoeningen |
| LRP5LDL receptor related protein 5 | Heel vaak (80–99%) | In 1 aandoening |
| MACROH2A1macroH2A.1 histone | Heel vaak (80–99%) | In 1 aandoening |
| MED12mediator complex subunit 12 | Heel vaak (80–99%) | In 3 aandoeningen |
| MEGF8multiple EGF like domains 8 | Heel vaak (80–99%) | In 1 aandoening |
| NFIBnuclear factor I B | Heel vaak (80–99%) | In 1 aandoening |
| NSD1nuclear receptor binding SET domain protein 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Heel vaak (80–99%) | In 3 aandoeningen |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| PITX1paired like homeodomain 1 | Heel vaak (80–99%) | In 1 aandoening |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Heel vaak (80–99%) | In 2 aandoeningen |
| PTCH1patched 1 | Heel vaak (80–99%) | In 8 aandoeningen |
| PTDSS1phosphatidylserine synthase 1 | Heel vaak (80–99%) | In 1 aandoening |
| PTENphosphatase and tensin homolog | Heel vaak (80–99%) | In 7 aandoeningen |
| RAB23RAB23, member RAS oncogene family | Heel vaak (80–99%) | In 1 aandoening |
| RAB39BRAB39B, member RAS oncogene family | Heel vaak (80–99%) | In 3 aandoeningen |
| RNF135ring finger protein 135 | Heel vaak (80–99%) | In 1 aandoening |
| SEC24DSEC24 homolog D, COPII component | Heel vaak (80–99%) | In 1 aandoening |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Heel vaak (80–99%) | In 1 aandoening |
| SLC26A2solute carrier family 26 member 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC29A3solute carrier family 29 member 3 | Heel vaak (80–99%) | In 1 aandoening |
| SLC35D1solute carrier family 35 member D1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SNX10sorting nexin 10 | Heel vaak (80–99%) | In 2 aandoeningen |
| SOSTsclerostin | Heel vaak (80–99%) | In 2 aandoeningen |
| SOX9SRY-box transcription factor 9 | Heel vaak (80–99%) | In 2 aandoeningen |
| SP7Sp7 transcription factor | Heel vaak (80–99%) | In 1 aandoening |
| STRADASTE20 related adaptor alpha | Heel vaak (80–99%) | In 2 aandoeningen |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Heel vaak (80–99%) | In 2 aandoeningen |
| SYN1synapsin I | Heel vaak (80–99%) | In 2 aandoeningen |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Heel vaak (80–99%) | In 3 aandoeningen |
| TMCO1transmembrane and coiled-coil domains 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| TNFRSF11ATNF receptor superfamily member 11a | Heel vaak (80–99%) | In 2 aandoeningen |
| TNFRSF11BTNF receptor superfamily member 11b | Heel vaak (80–99%) | In 2 aandoeningen |
| TNFSF11TNF superfamily member 11 | Heel vaak (80–99%) | In 1 aandoening |
| TRIM37tripartite motif containing 37 | Heel vaak (80–99%) | In 1 aandoening |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Heel vaak (80–99%) | In 2 aandoeningen |
| ZBTB7Azinc finger and BTB domain containing 7A | Heel vaak (80–99%) | In 1 aandoening |
| ZDHHC9zDHHC palmitoyltransferase 9 | Heel vaak (80–99%) | In 1 aandoening |
| ZIC1Zic family zinc finger 1 | Heel vaak (80–99%) | In 1 aandoening |
| ZIC4Zic family zinc finger 4 | Heel vaak (80–99%) | In 1 aandoening |
| ABCC9ATP binding cassette subfamily C member 9 | Vaak (30–79%) | In 2 aandoeningen |
| ADGRL1adhesion G protein-coupled receptor L1 | Vaak (30–79%) | In 1 aandoening |
| AHDC1AT-hook DNA binding motif containing 1 | Vaak (30–79%) | In 1 aandoening |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Vaak (30–79%) | In 1 aandoening |
| AMER1APC membrane recruitment protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| ARSBarylsulfatase B | Vaak (30–79%) | In 1 aandoening |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Vaak (30–79%) | In 1 aandoening |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| BICD2BICD cargo adaptor 2 | Vaak (30–79%) | In 1 aandoening |
| BMP2bone morphogenetic protein 2 | Vaak (30–79%) | In 1 aandoening |
| BMPR1Abone morphogenetic protein receptor type 1A | Vaak (30–79%) | In 1 aandoening |
| BRWD3bromodomain and WD repeat domain containing 3 | Vaak (30–79%) | In 1 aandoening |
| CCDC22CCC complex scaffolding subunit CCDC22 | Vaak (30–79%) | In 1 aandoening |
| CCNKcyclin K | Vaak (30–79%) | In 1 aandoening |
| CDCA7cell division cycle associated 7 | 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 |
| CHD3chromodomain helicase DNA binding protein 3 | Vaak (30–79%) | In 1 aandoening |
| CHD8chromodomain helicase DNA binding protein 8 | Vaak (30–79%) | In 1 aandoening |
| COL4A1collagen type IV alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| CRPPACDP-L-ribitol pyrophosphorylase A | Vaak (30–79%) | In 2 aandoeningen |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| CTNNB1catenin beta 1 | Vaak (30–79%) | In 1 aandoening |
| CUL4Bcullin 4B | Vaak (30–79%) | In 1 aandoening |
| DAG1dystroglycan 1 | Vaak (30–79%) | In 2 aandoeningen |
| DNMT3BDNA methyltransferase 3 beta | Vaak (30–79%) | In 1 aandoening |
| DPH2diphthamide biosynthesis 2 | Vaak (30–79%) | In 1 aandoening |
| DPYDdihydropyrimidine dehydrogenase | Vaak (30–79%) | In 2 aandoeningen |
| DPYSL5dihydropyrimidinase like 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 2 aandoeningen |
| DYNC2I2dynein 2 intermediate chain 2 | Vaak (30–79%) | In 1 aandoening |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Vaak (30–79%) | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Vaak (30–79%) | In 3 aandoeningen |
| FKRPfukutin related protein | Vaak (30–79%) | In 1 aandoening |
| FKTNfukutin | Vaak (30–79%) | In 1 aandoening |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Vaak (30–79%) | In 1 aandoening |
| FMR1fragile X messenger ribonucleoprotein 1 | Vaak (30–79%) | In 2 aandoeningen |
| FOXP1forkhead box P1 | Vaak (30–79%) | In 2 aandoeningen |
| FZD2frizzled class receptor 2 | Vaak (30–79%) | In 1 aandoening |
| GCDHglutaryl-CoA dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| GNAI3G protein subunit alpha i3 | Vaak (30–79%) | In 2 aandoeningen |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Vaak (30–79%) | In 1 aandoening |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Vaak (30–79%) | In 1 aandoening |
| HELLShelicase, lymphoid specific | Vaak (30–79%) | In 1 aandoening |
| HEXBhexosaminidase subunit beta | Vaak (30–79%) | In 1 aandoening |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Vaak (30–79%) | In 1 aandoening |
| IFT43intraflagellar transport 43 | Vaak (30–79%) | In 1 aandoening |
| IFT80intraflagellar transport 80 | Vaak (30–79%) | In 1 aandoening |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Vaak (30–79%) | In 1 aandoening |
| KDM1Alysine demethylase 1A | Vaak (30–79%) | In 2 aandoeningen |
| KRASKRas proto-oncogene, GTPase | Vaak (30–79%) | In 5 aandoeningen |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| LBRlamin B receptor | Vaak (30–79%) | In 2 aandoeningen |
| LRP2LDL receptor related protein 2 | Vaak (30–79%) | In 2 aandoeningen |
| MAB21L2mab-21 like 2 | Vaak (30–79%) | In 1 aandoening |
| MAN1B1mannosidase alpha class 1B member 1 | Vaak (30–79%) | In 1 aandoening |
| MAN2C1mannosidase alpha class 2C member 1 | Vaak (30–79%) | In 1 aandoening |
| MAP2K1mitogen-activated protein kinase kinase 1 | Vaak (30–79%) | In 2 aandoeningen |
| MAP2K2mitogen-activated protein kinase kinase 2 | Vaak (30–79%) | In 2 aandoeningen |
| MAXMYC associated transcriptional regulator X | Vaak (30–79%) | In 1 aandoening |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Vaak (30–79%) | In 1 aandoening |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Vaak (30–79%) | In 1 aandoening |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Vaak (30–79%) | In 1 aandoening |
| NF1neurofibromin 1 | Vaak (30–79%) | In 3 aandoeningen |
| NKX2-5NK2 homeobox 5 | Vaak (30–79%) | In 1 aandoening |
| NLRP3NLR family pyrin domain containing 3 | Vaak (30–79%) | In 2 aandoeningen |
| NOTCH2notch receptor 2 | Vaak (30–79%) | In 1 aandoening |
| NRASNRAS proto-oncogene, GTPase | Vaak (30–79%) | In 1 aandoening |
| NXNnucleoredoxin | Vaak (30–79%) | In 1 aandoening |
| OFD1OFD1 centriole and centriolar satellite protein | Vaak (30–79%) | In 2 aandoeningen |
| OPHN1oligophrenin 1 | Vaak (30–79%) | In 1 aandoening |
| PCGF2polycomb group ring finger 2 | Vaak (30–79%) | In 1 aandoening |
| PEX1peroxisomal biogenesis factor 1 | Vaak (30–79%) | In 3 aandoeningen |
| PEX10peroxisomal biogenesis factor 10 | Vaak (30–79%) | In 2 aandoeningen |
| PEX11Bperoxisomal biogenesis factor 11 beta | Vaak (30–79%) | In 2 aandoeningen |
| PEX12peroxisomal biogenesis factor 12 | Vaak (30–79%) | In 2 aandoeningen |
| PEX13peroxisomal biogenesis factor 13 | Vaak (30–79%) | In 2 aandoeningen |
| PEX14peroxisomal biogenesis factor 14 | Vaak (30–79%) | In 2 aandoeningen |
| PEX16peroxisomal biogenesis factor 16 | Vaak (30–79%) | In 2 aandoeningen |
| PEX19peroxisomal biogenesis factor 19 | Vaak (30–79%) | In 2 aandoeningen |
| PEX2peroxisomal biogenesis factor 2 | Vaak (30–79%) | In 2 aandoeningen |
| PEX26peroxisomal biogenesis factor 26 | Vaak (30–79%) | In 2 aandoeningen |
| PEX3peroxisomal biogenesis factor 3 | Vaak (30–79%) | In 2 aandoeningen |
| PEX5peroxisomal biogenesis factor 5 | Vaak (30–79%) | In 2 aandoeningen |
| PEX6peroxisomal biogenesis factor 6 | Vaak (30–79%) | In 3 aandoeningen |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Vaak (30–79%) | In 1 aandoening |
| PKDCCprotein kinase domain containing, cytoplasmic | Vaak (30–79%) | In 1 aandoening |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Vaak (30–79%) | In 1 aandoening |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Vaak (30–79%) | In 1 aandoening |
| POMKprotein O-mannose kinase | Vaak (30–79%) | In 1 aandoening |
| POMT1protein O-mannosyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| POMT2protein O-mannosyltransferase 2 | Vaak (30–79%) | In 1 aandoening |
| PORcytochrome p450 oxidoreductase | Vaak (30–79%) | In 1 aandoening |
| PPFIA3PPFI scaffold protein A3 | Vaak (30–79%) | In 1 aandoening |
| PTCH2patched 2 | Vaak (30–79%) | In 1 aandoening |
| PTH1Rparathyroid hormone 1 receptor | Vaak (30–79%) | In 1 aandoening |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Vaak (30–79%) | In 1 aandoening |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Vaak (30–79%) | In 1 aandoening |
| ROBO3roundabout guidance receptor 3 | Vaak (30–79%) | In 1 aandoening |
| ROR2ROR family WNT receptor 2 | Vaak (30–79%) | In 2 aandoeningen |
| RXYLT1ribitol xylosyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| SH2B1SH2B adaptor protein 1 | Vaak (30–79%) | In 1 aandoening |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Vaak (30–79%) | In 1 aandoening |
| SHPKsedoheptulokinase | Vaak (30–79%) | In 1 aandoening |
| SIM1SIM bHLH transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| SIX2SIX homeobox 2 | Vaak (30–79%) | In 1 aandoening |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Vaak (30–79%) | In 1 aandoening |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Vaak (30–79%) | In 1 aandoening |
| SPTSSAserine palmitoyltransferase small subunit A | Vaak (30–79%) | In 1 aandoening |
| SUMF1sulfatase modifying factor 1 | Vaak (30–79%) | In 1 aandoening |
| TAOK1TAO kinase 1 | Vaak (30–79%) | In 1 aandoening |
| TBCKTBC1 domain containing kinase | Vaak (30–79%) | In 2 aandoeningen |
| TFE3transcription factor binding to IGHM enhancer 3 | Vaak (30–79%) | In 1 aandoening |
| TMEM53transmembrane protein 53 | Vaak (30–79%) | In 1 aandoening |
| TRIOtrio Rho guanine nucleotide exchange factor | Vaak (30–79%) | In 1 aandoening |
| UBE2Aubiquitin conjugating enzyme E2 A | Vaak (30–79%) | In 2 aandoeningen |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Vaak (30–79%) | In 1 aandoening |
| VPS35LVPS35 endosomal protein sorting factor like | Vaak (30–79%) | In 1 aandoening |
| WASHC5WASH complex subunit 5 | Vaak (30–79%) | In 1 aandoening |
| WDR35WD repeat domain 35 | Vaak (30–79%) | In 2 aandoeningen |
| WNT5AWnt family member 5A | Vaak (30–79%) | In 2 aandoeningen |
| ZBTB20zinc finger and BTB domain containing 20 | Vaak (30–79%) | In 1 aandoening |
| ZBTB24zinc finger and BTB domain containing 24 | Vaak (30–79%) | In 1 aandoening |
| ZBTB42zinc finger and BTB domain containing 42 | Vaak (30–79%) | In 1 aandoening |
| ACADMacyl-CoA dehydrogenase medium chain | Soms (5–29%) | In 1 aandoening |
| AFF2ALF transcription elongation factor 2 | Soms (5–29%) | In 1 aandoening |
| AGGF1angiogenic factor with G-patch and FHA domains 1 | Soms (5–29%) | In 1 aandoening |
| AKT1AKT serine/threonine kinase 1 | Soms (5–29%) | In 2 aandoeningen |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Soms (5–29%) | In 1 aandoening |
| ANK3ankyrin 3 | Soms (5–29%) | In 1 aandoening |
| ANKRD17ankyrin repeat domain 17 | Soms (5–29%) | In 1 aandoening |
| B3GLCTbeta 3-glucosyltransferase | Soms (5–29%) | In 1 aandoening |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Soms (5–29%) | In 1 aandoening |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Soms (5–29%) | In 1 aandoening |
| CAMTA1calmodulin binding transcription activator 1 | Soms (5–29%) | In 2 aandoeningen |
| CC2D2Acoiled-coil and C2 domain containing 2A | Soms (5–29%) | In 1 aandoening |
| CDC42BPBCDC42 binding protein kinase beta | Soms (5–29%) | In 1 aandoening |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Soms (5–29%) | In 1 aandoening |
| CDONcell adhesion associated, oncogene regulated | Soms (5–29%) | In 4 aandoeningen |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Soms (5–29%) | In 1 aandoening |
| CLCN3Cl-/H+ antiporter 3 | Soms (5–29%) | In 1 aandoening |
| CLCN4Cl-/H+ antiporter 4 | Soms (5–29%) | In 1 aandoening |
| CRELD1CRELD disulfide isomerase 1 | Soms (5–29%) | In 1 aandoening |
| CRIPTOcripto, EGF-CFC family member | Soms (5–29%) | In 4 aandoeningen |
| DEAF1DEAF1 transcription factor | Soms (5–29%) | In 1 aandoening |
| DHCR2424-dehydrocholesterol reductase | Soms (5–29%) | In 2 aandoeningen |
| DHRS3dehydrogenase/reductase 3 | Soms (5–29%) | In 1 aandoening |
| DISP1dispatched RND transporter family member 1 | Soms (5–29%) | In 4 aandoeningen |
| DLL1delta like canonical Notch ligand 1 | Soms (5–29%) | In 5 aandoeningen |
| DLL3delta like canonical Notch ligand 3 | Soms (5–29%) | In 1 aandoening |
| DOCK6dedicator of cytokinesis 6 | Soms (5–29%) | In 1 aandoening |
| DPYSdihydropyrimidinase | Soms (5–29%) | In 1 aandoening |
| EDN1endothelin 1 | Soms (5–29%) | In 1 aandoening |
| ERFETS2 repressor factor | Soms (5–29%) | In 1 aandoening |
| ERMARDER membrane associated RNA degradation | Soms (5–29%) | In 1 aandoening |
| FAM149B1family with sequence similarity 149 member B1 | Soms (5–29%) | In 1 aandoening |
| FAR1fatty acyl-CoA reductase 1 | Soms (5–29%) | In 1 aandoening |
| FBXO11F-box protein 11 | Soms (5–29%) | In 1 aandoening |
| FBXW7F-box and WD repeat domain containing 7 | Soms (5–29%) | In 1 aandoening |
| FGF8fibroblast growth factor 8 | Soms (5–29%) | In 4 aandoeningen |
| FIG4FIG4 phosphoinositide 5-phosphatase | Soms (5–29%) | In 1 aandoening |
| FOXH1forkhead box H1 | Soms (5–29%) | In 4 aandoeningen |
| FOXP2forkhead box P2 | Soms (5–29%) | In 1 aandoening |
| GAD1glutamate decarboxylase 1 | Soms (5–29%) | In 1 aandoening |
| GAS1growth arrest specific 1 | Soms (5–29%) | In 4 aandoeningen |
| GLI2GLI family zinc finger 2 | Soms (5–29%) | In 4 aandoeningen |
| GNAQG protein subunit alpha q | Soms (5–29%) | In 2 aandoeningen |
| GNB1G protein subunit beta 1 | Soms (5–29%) | In 1 aandoening |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Soms (5–29%) | In 2 aandoeningen |
| H3-3AH3.3 histone A | Soms (5–29%) | In 1 aandoening |
| H3-3BH3.3 histone B | Soms (5–29%) | In 1 aandoening |
| HDAC4histone deacetylase 4 | Soms (5–29%) | In 1 aandoening |
| HES7hes family bHLH transcription factor 7 | Soms (5–29%) | In 1 aandoening |
| HOXD13homeobox D13 | Soms (5–29%) | In 1 aandoening |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Soms (5–29%) | In 1 aandoening |
| IHHIndian hedgehog signaling molecule | Soms (5–29%) | In 1 aandoening |
| INPP5Einositol polyphosphate-5-phosphatase E | Soms (5–29%) | In 2 aandoeningen |
| JARID2jumonji and AT-rich interaction domain containing 2 | Soms (5–29%) | In 1 aandoening |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Soms (5–29%) | In 1 aandoening |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Soms (5–29%) | In 1 aandoening |
| KDM5Clysine demethylase 5C | Soms (5–29%) | In 2 aandoeningen |
| KICS2KICSTOR subunit 2 | Soms (5–29%) | In 1 aandoening |
| KMT5Blysine methyltransferase 5B | Soms (5–29%) | In 1 aandoening |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Soms (5–29%) | In 1 aandoening |
| MAN2B1mannosidase alpha class 2B member 1 | Soms (5–29%) | In 2 aandoeningen |
| MECP2methyl-CpG binding protein 2 | Soms (5–29%) | In 1 aandoening |
| MESP2mesoderm posterior bHLH transcription factor 2 | Soms (5–29%) | In 1 aandoening |
| MSL2MSL complex subunit 2 | Soms (5–29%) | In 1 aandoening |
| MSX2msh homeobox 2 | Soms (5–29%) | In 2 aandoeningen |
| MYH8myosin heavy chain 8 | Soms (5–29%) | In 1 aandoening |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Soms (5–29%) | In 1 aandoening |
| NODALnodal growth differentiation factor | Soms (5–29%) | In 4 aandoeningen |
| NOTCH3notch receptor 3 | Soms (5–29%) | In 1 aandoening |
| OTUD5OTU deubiquitinase 5 | Soms (5–29%) | In 1 aandoening |
| PDGFRBplatelet derived growth factor receptor beta | Soms (5–29%) | In 1 aandoening |
| PHF21APHD finger protein 21A | Soms (5–29%) | In 1 aandoening |
| PHF6PHD finger protein 6 | Soms (5–29%) | In 1 aandoening |
| PIBF1progesterone immunomodulatory binding factor 1 | Soms (5–29%) | In 1 aandoening |
| PLCB4phospholipase C beta 4 | Soms (5–29%) | In 2 aandoeningen |
| PLCH1phospholipase C eta 1 | Soms (5–29%) | In 2 aandoeningen |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Soms (5–29%) | In 1 aandoening |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| PTHLHparathyroid hormone like hormone | Soms (5–29%) | In 1 aandoening |
| RAB34RAB34, member RAS oncogene family | Soms (5–29%) | In 1 aandoening |
| RAC1Rac family small GTPase 1 | Soms (5–29%) | In 2 aandoeningen |
| REREarginine-glutamic acid dipeptide repeats | Soms (5–29%) | In 1 aandoening |
| RFX7regulatory factor X7 | Soms (5–29%) | In 1 aandoening |
| RIPPLY2ripply transcriptional repressor 2 | Soms (5–29%) | In 1 aandoening |
| RNU5B-1RNA, U5B small nuclear 1 | Soms (5–29%) | In 1 aandoening |
| RPGRIP1LRPGRIP1 like | Soms (5–29%) | In 1 aandoening |
| RUNX2RUNX family transcription factor 2 | Soms (5–29%) | In 1 aandoening |
| SATB2SATB homeobox 2 | Soms (5–29%) | In 1 aandoening |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Soms (5–29%) | In 1 aandoening |
| SHHsonic hedgehog signaling molecule | Soms (5–29%) | In 4 aandoeningen |
| SIX3SIX homeobox 3 | Soms (5–29%) | In 4 aandoeningen |
| SLC25A1solute carrier family 25 member 1 | Soms (5–29%) | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Soms (5–29%) | In 1 aandoening |
| SLC2A10solute carrier family 2 member 10 | Soms (5–29%) | In 1 aandoening |
| SLC39A14solute carrier family 39 member 14 | Soms (5–29%) | In 1 aandoening |
| SMAD4SMAD family member 4 | Soms (5–29%) | In 1 aandoening |
| SMC1Astructural maintenance of chromosomes 1A | Soms (5–29%) | In 1 aandoening |
| SMPD1sphingomyelin phosphodiesterase 1 | Soms (5–29%) | In 1 aandoening |
| SPINT2serine peptidase inhibitor, Kunitz type 2 | Soms (5–29%) | In 1 aandoening |
| SPRED1sprouty related EVH1 domain containing 1 | Soms (5–29%) | In 2 aandoeningen |
| SPTBN1spectrin beta, non-erythrocytic 1 | Soms (5–29%) | In 1 aandoening |
| SRCAPSnf2 related CREBBP activator protein | Soms (5–29%) | In 1 aandoening |
| SRPK3SRSF protein kinase 3 | Soms (5–29%) | In 1 aandoening |
| SRRM2serine/arginine repetitive matrix 2 | Soms (5–29%) | In 1 aandoening |
| STAG2STAG2 cohesin complex component | Soms (5–29%) | In 2 aandoeningen |
| STILSTIL centriolar assembly protein | Soms (5–29%) | In 4 aandoeningen |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Soms (5–29%) | In 1 aandoening |
| STX4syntaxin 4 | Soms (5–29%) | In 1 aandoening |
| TBC1D32TBC1 domain family member 32 | Soms (5–29%) | In 1 aandoening |
| TBX6T-box transcription factor 6 | Soms (5–29%) | In 2 aandoeningen |
| TCP1t-complex 1 | Soms (5–29%) | In 1 aandoening |
| TET3tet methylcytosine dioxygenase 3 | Soms (5–29%) | In 1 aandoening |
| TGIF1TGFB induced factor homeobox 1 | Soms (5–29%) | In 4 aandoeningen |
| TMEM67transmembrane protein 67 | Soms (5–29%) | In 1 aandoening |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Soms (5–29%) | In 1 aandoening |
| TRAF7TNF receptor associated factor 7 | Soms (5–29%) | In 1 aandoening |
| TUBA1Atubulin alpha 1a | Soms (5–29%) | In 1 aandoening |
| TUBB2Btubulin beta 2B class IIb | Soms (5–29%) | In 1 aandoening |
| TUBB3tubulin beta 3 class III | Soms (5–29%) | In 2 aandoeningen |
| UBE3Aubiquitin protein ligase E3A | Soms (5–29%) | In 1 aandoening |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Soms (5–29%) | In 1 aandoening |
| YME1L1YME1 like 1 ATPase | Soms (5–29%) | In 1 aandoening |
| ZIC2Zic family zinc finger 2 | Soms (5–29%) | In 4 aandoeningen |
| ZSWIM6zinc finger SWIM-type containing 6 | Soms (5–29%) | In 1 aandoening |
| ACADVLacyl-CoA dehydrogenase very long chain | Zelden (1–4%) | In 1 aandoening |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Zelden (1–4%) | In 1 aandoening |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Zelden (1–4%) | In 1 aandoening |
| COL2A1collagen type II alpha 1 chain | Zelden (1–4%) | In 2 aandoeningen |
| MYT1Lmyelin transcription factor 1 like | Zelden (1–4%) | In 1 aandoening |
| NALCNsodium leak channel, non-selective | Zelden (1–4%) | In 1 aandoening |
| NEU1neuraminidase 1 | Zelden (1–4%) | In 1 aandoening |
| POU4F1POU class 4 homeobox 1 | Zelden (1–4%) | In 1 aandoening |
| ARL6ARF like GTPase 6 | Niet vastgelegd | In 1 aandoening |
| BBS1Bardet-Biedl syndrome 1 | Niet vastgelegd | In 1 aandoening |
| BLTP1bridge-like lipid transfer protein family member 1 | Niet vastgelegd | In 1 aandoening |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Niet vastgelegd | In 1 aandoening |
| CCDC28Bcoiled-coil domain containing 28B | Niet vastgelegd | In 1 aandoening |
| CSF1Rcolony stimulating factor 1 receptor | Niet vastgelegd | In 1 aandoening |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Niet vastgelegd | In 1 aandoening |
| ETFAelectron transfer flavoprotein subunit alpha | Niet vastgelegd | In 1 aandoening |
| ETFBelectron transfer flavoprotein subunit beta | Niet vastgelegd | In 1 aandoening |
| ETFDHelectron transfer flavoprotein dehydrogenase | Niet vastgelegd | In 1 aandoening |
| FAM111AFAM111 trypsin like peptidase A | Niet vastgelegd | In 1 aandoening |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Niet vastgelegd | In 1 aandoening |
| GJA1gap junction protein alpha 1 | Niet vastgelegd | In 1 aandoening |
| H1-4H1.4 linker histone, cluster member | Niet vastgelegd | In 1 aandoening |
| HDAC6histone deacetylase 6 | Niet vastgelegd | In 1 aandoening |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Niet vastgelegd | In 1 aandoening |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Niet vastgelegd | In 1 aandoening |
| KLLNkillin, p53 regulated DNA replication inhibitor | Niet vastgelegd | In 1 aandoening |
| KMT2Elysine methyltransferase 2E (inactive) | Niet vastgelegd | In 1 aandoening |
| L1CAML1 cell adhesion molecule | Niet vastgelegd | In 2 aandoeningen |
| LAMB1laminin subunit beta 1 | Niet vastgelegd | In 1 aandoening |
| LRP4LDL receptor related protein 4 | Niet vastgelegd | In 1 aandoening |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Niet vastgelegd | In 1 aandoening |
| MOCS1molybdenum cofactor synthesis 1 | Niet vastgelegd | In 1 aandoening |
| MOCS2molybdenum cofactor synthesis 2 | Niet vastgelegd | In 1 aandoening |
| MTM1myotubularin 1 | Niet vastgelegd | In 1 aandoening |
| MYMKmyomaker, myoblast fusion factor | Niet vastgelegd | In 1 aandoening |
| NKX3-2NK3 homeobox 2 | Niet vastgelegd | In 1 aandoening |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Niet vastgelegd | In 1 aandoening |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Niet vastgelegd | In 1 aandoening |
| POC1APOC1 centriolar protein A | Niet vastgelegd | In 1 aandoening |
| POLR3ARNA polymerase III subunit A | Niet vastgelegd | In 1 aandoening |
| SEC23ASEC23 homolog A, COPII component | Niet vastgelegd | In 1 aandoening |
| SEC23BSEC23 homolog B, COPII component | Niet vastgelegd | In 1 aandoening |
| SETD2SET domain containing 2, histone lysine methyltransferase | Niet vastgelegd | In 1 aandoening |
| SMOsmoothened, frizzled class receptor | Niet vastgelegd | In 1 aandoening |
| TBL1Xtransducin beta like 1 X-linked | Niet vastgelegd | In 1 aandoening |
| TMEM216transmembrane protein 216 | Niet vastgelegd | In 1 aandoening |
| TMEM94transmembrane protein 94 | 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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