Træk
Big calvaria
Klinisk navn: 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.
Resumé
- Også kaldet
- 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
ReferencegenomGRCh38hg38
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Ændringer i disse gener forårsager sjældne tilstande, hvor Big calvaria ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Altid | I 1 tilstand |
| ANKHANKH inorganic pyrophosphate transport regulator | Altid | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Altid | I 2 tilstande |
| AQP4aquaporin 4 | Altid | I 1 tilstand |
| ASH1LASH1 like histone lysine methyltransferase | Altid | I 1 tilstand |
| ASXL2ASXL transcriptional regulator 2 | Altid | I 1 tilstand |
| AXIN1axin 1 | Altid | I 1 tilstand |
| B4GALT1beta-1,4-galactosyltransferase 1 | Altid | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Altid | I 4 tilstande |
| CNTNAP2contactin associated protein 2 | Altid | I 1 tilstand |
| CWC27CWC27 spliceosome associated cyclophilin | Altid | I 1 tilstand |
| DICER1dicer 1, ribonuclease III | Altid | I 1 tilstand |
| DSTdystonin | Altid | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Altid | I 3 tilstande |
| EEDembryonic ectoderm development | Altid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altid | I 1 tilstand |
| EML1EMAP like 1 | Altid | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Altid | I 2 tilstande |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Altid | I 2 tilstande |
| FBN1fibrillin 1 | Altid | I 1 tilstand |
| FEM1Bfem-1 homolog B | Altid | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Altid | I 10 tilstande |
| FIBPFGF1 intracellular binding protein | Altid | I 2 tilstande |
| FLNAfilamin A | Altid | I 1 tilstand |
| GANgigaxonin | Altid | I 1 tilstand |
| GNB2G protein subunit beta 2 | Altid | I 1 tilstand |
| GNSglucosamine (N-acetyl)-6-sulfatase | Altid | I 1 tilstand |
| GPRC5BG protein-coupled receptor class C group 5 member B | Altid | I 1 tilstand |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Altid | I 1 tilstand |
| HEPACAMhepatic and glial cell adhesion molecule | Altid | I 4 tilstande |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Altid | I 2 tilstande |
| IDUAalpha-L-iduronidase | Altid | I 1 tilstand |
| IFT74intraflagellar transport 74 | Altid | I 1 tilstand |
| IGBP1immunoglobulin binding protein 1 | Altid | I 2 tilstande |
| IL6STinterleukin 6 cytokine family signal transducer | Altid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Altid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| KIF7kinesin family member 7 | Altid | I 4 tilstande |
| LRRC7leucine rich repeat containing 7 | Altid | I 1 tilstand |
Vis 386 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| MITFmelanocyte inducing transcription factor | Altid | I 1 tilstand |
| MLC1modulator of VRAC current 1 | Altid | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Altid | I 3 tilstande |
| NFIAnuclear factor I A | Altid | I 2 tilstande |
| NFIXnuclear factor I X | Altid | I 2 tilstande |
| NONOnon-POU domain containing octamer binding | Altid | I 1 tilstand |
| ODC1ornithine decarboxylase 1 | Altid | I 2 tilstande |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Altid | I 1 tilstand |
| PLECplectin | Altid | I 1 tilstand |
| PLGplasminogen | Altid | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Altid | I 1 tilstand |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Altid | I 1 tilstand |
| RIN2Ras and Rab interactor 2 | Altid | I 1 tilstand |
| RNF125ring finger protein 125 | Altid | I 1 tilstand |
| RRAGCRas related GTP binding C | Altid | I 1 tilstand |
| SONSON DNA and RNA binding protein | Altid | I 1 tilstand |
| SPIN4spindlin family member 4 | Altid | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Altid | I 3 tilstande |
| TBC1D7TBC1 domain family member 7 | Altid | I 2 tilstande |
| TBX15T-box transcription factor 15 | Altid | I 2 tilstande |
| TCF20transcription factor 20 | Altid | I 1 tilstand |
| THOC2THO complex subunit 2 | Altid | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Altid | I 2 tilstande |
| ZFXzinc finger protein X-linked | Altid | I 1 tilstand |
| ADKadenosine kinase | Meget ofte (80–99 %) | I 1 tilstand |
| AKT3AKT serine/threonine kinase 3 | Meget ofte (80–99 %) | I 3 tilstande |
| ANTXR2ANTXR cell adhesion molecule 2 | Meget ofte (80–99 %) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ASPAaspartoacylase | Meget ofte (80–99 %) | I 3 tilstande |
| B4GALT7beta-1,4-galactosyltransferase 7 | Meget ofte (80–99 %) | I 2 tilstande |
| CCND2cyclin D2 | Meget ofte (80–99 %) | I 2 tilstande |
| CHD4chromodomain helicase DNA binding protein 4 | Meget ofte (80–99 %) | I 1 tilstand |
| CLCN7Cl-/H+ antiporter 7 | Meget ofte (80–99 %) | I 2 tilstande |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Meget ofte (80–99 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Meget ofte (80–99 %) | I 1 tilstand |
| DMPKDM1 protein kinase | Meget ofte (80–99 %) | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Meget ofte (80–99 %) | I 2 tilstande |
| FAM177A1family with sequence similarity 177 member A1 | Meget ofte (80–99 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Meget ofte (80–99 %) | I 4 tilstande |
| GPC3glypican 3 | Meget ofte (80–99 %) | I 2 tilstande |
| GPC4glypican 4 | Meget ofte (80–99 %) | I 3 tilstande |
| GUSBglucuronidase beta | Meget ofte (80–99 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 2 tilstande |
| IDSiduronate 2-sulfatase | Meget ofte (80–99 %) | I 1 tilstand |
| INPPL1inositol polyphosphate phosphatase like 1 | Meget ofte (80–99 %) | I 3 tilstande |
| KPTNkaptin, actin binding protein | Meget ofte (80–99 %) | I 2 tilstande |
| LRP5LDL receptor related protein 5 | Meget ofte (80–99 %) | I 1 tilstand |
| MACROH2A1macroH2A.1 histone | Meget ofte (80–99 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Meget ofte (80–99 %) | I 3 tilstande |
| MEGF8multiple EGF like domains 8 | Meget ofte (80–99 %) | I 1 tilstand |
| NFIBnuclear factor I B | Meget ofte (80–99 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Meget ofte (80–99 %) | I 4 tilstande |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Meget ofte (80–99 %) | I 3 tilstande |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Meget ofte (80–99 %) | I 2 tilstande |
| PITX1paired like homeodomain 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Meget ofte (80–99 %) | I 2 tilstande |
| PTCH1patched 1 | Meget ofte (80–99 %) | I 8 tilstande |
| PTDSS1phosphatidylserine synthase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Meget ofte (80–99 %) | I 7 tilstande |
| RAB23RAB23, member RAS oncogene family | Meget ofte (80–99 %) | I 1 tilstand |
| RAB39BRAB39B, member RAS oncogene family | Meget ofte (80–99 %) | I 3 tilstande |
| RNF135ring finger protein 135 | Meget ofte (80–99 %) | I 1 tilstand |
| SEC24DSEC24 homolog D, COPII component | Meget ofte (80–99 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Meget ofte (80–99 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC29A3solute carrier family 29 member 3 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC35D1solute carrier family 35 member D1 | Meget ofte (80–99 %) | I 2 tilstande |
| SNX10sorting nexin 10 | Meget ofte (80–99 %) | I 2 tilstande |
| SOSTsclerostin | Meget ofte (80–99 %) | I 2 tilstande |
| SOX9SRY-box transcription factor 9 | Meget ofte (80–99 %) | I 2 tilstande |
| SP7Sp7 transcription factor | Meget ofte (80–99 %) | I 1 tilstand |
| STRADASTE20 related adaptor alpha | Meget ofte (80–99 %) | I 2 tilstande |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Meget ofte (80–99 %) | I 2 tilstande |
| SYN1synapsin I | Meget ofte (80–99 %) | I 2 tilstande |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Meget ofte (80–99 %) | I 3 tilstande |
| TMCO1transmembrane and coiled-coil domains 1 | Meget ofte (80–99 %) | I 2 tilstande |
| TNFRSF11ATNF receptor superfamily member 11a | Meget ofte (80–99 %) | I 2 tilstande |
| TNFRSF11BTNF receptor superfamily member 11b | Meget ofte (80–99 %) | I 2 tilstande |
| TNFSF11TNF superfamily member 11 | Meget ofte (80–99 %) | I 1 tilstand |
| TRIM37tripartite motif containing 37 | Meget ofte (80–99 %) | I 1 tilstand |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Meget ofte (80–99 %) | I 2 tilstande |
| ZBTB7Azinc finger and BTB domain containing 7A | Meget ofte (80–99 %) | I 1 tilstand |
| ZDHHC9zDHHC palmitoyltransferase 9 | Meget ofte (80–99 %) | I 1 tilstand |
| ZIC1Zic family zinc finger 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ZIC4Zic family zinc finger 4 | Meget ofte (80–99 %) | I 1 tilstand |
| ABCC9ATP binding cassette subfamily C member 9 | Ofte (30–79 %) | I 2 tilstande |
| ADGRL1adhesion G protein-coupled receptor L1 | Ofte (30–79 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Ofte (30–79 %) | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Ofte (30–79 %) | I 2 tilstande |
| ARSBarylsulfatase B | Ofte (30–79 %) | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Ofte (30–79 %) | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Ofte (30–79 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Ofte (30–79 %) | I 1 tilstand |
| BRWD3bromodomain and WD repeat domain containing 3 | Ofte (30–79 %) | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Ofte (30–79 %) | I 1 tilstand |
| CCNKcyclin K | Ofte (30–79 %) | I 1 tilstand |
| CDCA7cell division cycle associated 7 | Ofte (30–79 %) | I 1 tilstand |
| CDH2cadherin 2 | Ofte (30–79 %) | I 1 tilstand |
| CHD1chromodomain helicase DNA binding protein 1 | Ofte (30–79 %) | I 2 tilstande |
| CHD3chromodomain helicase DNA binding protein 3 | Ofte (30–79 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Ofte (30–79 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Ofte (30–79 %) | I 2 tilstande |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Ofte (30–79 %) | I 1 tilstand |
| CUL4Bcullin 4B | Ofte (30–79 %) | I 1 tilstand |
| DAG1dystroglycan 1 | Ofte (30–79 %) | I 2 tilstande |
| DNMT3BDNA methyltransferase 3 beta | Ofte (30–79 %) | I 1 tilstand |
| DPH2diphthamide biosynthesis 2 | Ofte (30–79 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Ofte (30–79 %) | I 2 tilstande |
| DPYSL5dihydropyrimidinase like 5 | Ofte (30–79 %) | I 1 tilstand |
| DVL3dishevelled segment polarity protein 3 | Ofte (30–79 %) | I 2 tilstande |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Ofte (30–79 %) | I 1 tilstand |
| DYNC2I1dynein 2 intermediate chain 1 | Ofte (30–79 %) | I 2 tilstande |
| DYNC2I2dynein 2 intermediate chain 2 | Ofte (30–79 %) | I 1 tilstand |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 3 tilstande |
| FKRPfukutin related protein | Ofte (30–79 %) | I 1 tilstand |
| FKTNfukutin | Ofte (30–79 %) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Ofte (30–79 %) | I 1 tilstand |
| FMR1fragile X messenger ribonucleoprotein 1 | Ofte (30–79 %) | I 2 tilstande |
| FOXP1forkhead box P1 | Ofte (30–79 %) | I 2 tilstande |
| FZD2frizzled class receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| GCDHglutaryl-CoA dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| GNAI3G protein subunit alpha i3 | Ofte (30–79 %) | I 2 tilstande |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Ofte (30–79 %) | I 1 tilstand |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Ofte (30–79 %) | I 1 tilstand |
| HELLShelicase, lymphoid specific | Ofte (30–79 %) | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Ofte (30–79 %) | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ofte (30–79 %) | I 1 tilstand |
| IFT43intraflagellar transport 43 | Ofte (30–79 %) | I 1 tilstand |
| IFT80intraflagellar transport 80 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Ofte (30–79 %) | I 1 tilstand |
| KDM1Alysine demethylase 1A | Ofte (30–79 %) | I 2 tilstande |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 5 tilstande |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| LBRlamin B receptor | Ofte (30–79 %) | I 2 tilstande |
| LRP2LDL receptor related protein 2 | Ofte (30–79 %) | I 2 tilstande |
| MAB21L2mab-21 like 2 | Ofte (30–79 %) | I 1 tilstand |
| MAN1B1mannosidase alpha class 1B member 1 | Ofte (30–79 %) | I 1 tilstand |
| MAN2C1mannosidase alpha class 2C member 1 | Ofte (30–79 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ofte (30–79 %) | I 2 tilstande |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ofte (30–79 %) | I 2 tilstande |
| MAXMYC associated transcriptional regulator X | Ofte (30–79 %) | I 1 tilstand |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Ofte (30–79 %) | I 1 tilstand |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Ofte (30–79 %) | I 1 tilstand |
| NF1neurofibromin 1 | Ofte (30–79 %) | I 3 tilstande |
| NKX2-5NK2 homeobox 5 | Ofte (30–79 %) | I 1 tilstand |
| NLRP3NLR family pyrin domain containing 3 | Ofte (30–79 %) | I 2 tilstande |
| NOTCH2notch receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Ofte (30–79 %) | I 1 tilstand |
| NXNnucleoredoxin | Ofte (30–79 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Ofte (30–79 %) | I 2 tilstande |
| OPHN1oligophrenin 1 | Ofte (30–79 %) | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Ofte (30–79 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Ofte (30–79 %) | I 3 tilstande |
| PEX10peroxisomal biogenesis factor 10 | Ofte (30–79 %) | I 2 tilstande |
| PEX11Bperoxisomal biogenesis factor 11 beta | Ofte (30–79 %) | I 2 tilstande |
| PEX12peroxisomal biogenesis factor 12 | Ofte (30–79 %) | I 2 tilstande |
| PEX13peroxisomal biogenesis factor 13 | Ofte (30–79 %) | I 2 tilstande |
| PEX14peroxisomal biogenesis factor 14 | Ofte (30–79 %) | I 2 tilstande |
| PEX16peroxisomal biogenesis factor 16 | Ofte (30–79 %) | I 2 tilstande |
| PEX19peroxisomal biogenesis factor 19 | Ofte (30–79 %) | I 2 tilstande |
| PEX2peroxisomal biogenesis factor 2 | Ofte (30–79 %) | I 2 tilstande |
| PEX26peroxisomal biogenesis factor 26 | Ofte (30–79 %) | I 2 tilstande |
| PEX3peroxisomal biogenesis factor 3 | Ofte (30–79 %) | I 2 tilstande |
| PEX5peroxisomal biogenesis factor 5 | Ofte (30–79 %) | I 2 tilstande |
| PEX6peroxisomal biogenesis factor 6 | Ofte (30–79 %) | I 3 tilstande |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ofte (30–79 %) | I 1 tilstand |
| PKDCCprotein kinase domain containing, cytoplasmic | Ofte (30–79 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ofte (30–79 %) | I 1 tilstand |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Ofte (30–79 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Ofte (30–79 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Ofte (30–79 %) | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Ofte (30–79 %) | I 1 tilstand |
| PTCH2patched 2 | Ofte (30–79 %) | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Ofte (30–79 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Ofte (30–79 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| ROBO3roundabout guidance receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Ofte (30–79 %) | I 2 tilstande |
| RXYLT1ribitol xylosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| SH2B1SH2B adaptor protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Ofte (30–79 %) | I 1 tilstand |
| SHPKsedoheptulokinase | Ofte (30–79 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| SIX2SIX homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ofte (30–79 %) | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Ofte (30–79 %) | I 1 tilstand |
| SPTSSAserine palmitoyltransferase small subunit A | Ofte (30–79 %) | I 1 tilstand |
| SUMF1sulfatase modifying factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TAOK1TAO kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Ofte (30–79 %) | I 2 tilstande |
| TFE3transcription factor binding to IGHM enhancer 3 | Ofte (30–79 %) | I 1 tilstand |
| TMEM53transmembrane protein 53 | Ofte (30–79 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Ofte (30–79 %) | I 1 tilstand |
| UBE2Aubiquitin conjugating enzyme E2 A | Ofte (30–79 %) | I 2 tilstande |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Ofte (30–79 %) | I 1 tilstand |
| VPS35LVPS35 endosomal protein sorting factor like | Ofte (30–79 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| WDR35WD repeat domain 35 | Ofte (30–79 %) | I 2 tilstande |
| WNT5AWnt family member 5A | Ofte (30–79 %) | I 2 tilstande |
| ZBTB20zinc finger and BTB domain containing 20 | Ofte (30–79 %) | I 1 tilstand |
| ZBTB24zinc finger and BTB domain containing 24 | Ofte (30–79 %) | I 1 tilstand |
| ZBTB42zinc finger and BTB domain containing 42 | Ofte (30–79 %) | I 1 tilstand |
| ACADMacyl-CoA dehydrogenase medium chain | Nogle gange (5–29 %) | I 1 tilstand |
| AFF2ALF transcription elongation factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| AGGF1angiogenic factor with G-patch and FHA domains 1 | Nogle gange (5–29 %) | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ANK3ankyrin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ANKRD17ankyrin repeat domain 17 | Nogle gange (5–29 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Nogle gange (5–29 %) | I 1 tilstand |
| CAMTA1calmodulin binding transcription activator 1 | Nogle gange (5–29 %) | I 2 tilstande |
| CC2D2Acoiled-coil and C2 domain containing 2A | Nogle gange (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Nogle gange (5–29 %) | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Nogle gange (5–29 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Nogle gange (5–29 %) | I 4 tilstande |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Nogle gange (5–29 %) | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Nogle gange (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CRIPTOcripto, EGF-CFC family member | Nogle gange (5–29 %) | I 4 tilstande |
| DEAF1DEAF1 transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Nogle gange (5–29 %) | I 2 tilstande |
| DHRS3dehydrogenase/reductase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| DISP1dispatched RND transporter family member 1 | Nogle gange (5–29 %) | I 4 tilstande |
| DLL1delta like canonical Notch ligand 1 | Nogle gange (5–29 %) | I 5 tilstande |
| DLL3delta like canonical Notch ligand 3 | Nogle gange (5–29 %) | I 1 tilstand |
| DOCK6dedicator of cytokinesis 6 | Nogle gange (5–29 %) | I 1 tilstand |
| DPYSdihydropyrimidinase | Nogle gange (5–29 %) | I 1 tilstand |
| EDN1endothelin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ERFETS2 repressor factor | Nogle gange (5–29 %) | I 1 tilstand |
| ERMARDER membrane associated RNA degradation | Nogle gange (5–29 %) | I 1 tilstand |
| FAM149B1family with sequence similarity 149 member B1 | Nogle gange (5–29 %) | I 1 tilstand |
| FAR1fatty acyl-CoA reductase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXW7F-box and WD repeat domain containing 7 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Nogle gange (5–29 %) | I 4 tilstande |
| FIG4FIG4 phosphoinositide 5-phosphatase | Nogle gange (5–29 %) | I 1 tilstand |
| FOXH1forkhead box H1 | Nogle gange (5–29 %) | I 4 tilstande |
| FOXP2forkhead box P2 | Nogle gange (5–29 %) | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Nogle gange (5–29 %) | I 4 tilstande |
| GLI2GLI family zinc finger 2 | Nogle gange (5–29 %) | I 4 tilstande |
| GNAQG protein subunit alpha q | Nogle gange (5–29 %) | I 2 tilstande |
| GNB1G protein subunit beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Nogle gange (5–29 %) | I 2 tilstande |
| H3-3AH3.3 histone A | Nogle gange (5–29 %) | I 1 tilstand |
| H3-3BH3.3 histone B | Nogle gange (5–29 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| HES7hes family bHLH transcription factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| HOXD13homeobox D13 | Nogle gange (5–29 %) | I 1 tilstand |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IHHIndian hedgehog signaling molecule | Nogle gange (5–29 %) | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Nogle gange (5–29 %) | I 2 tilstande |
| JARID2jumonji and AT-rich interaction domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM5Clysine demethylase 5C | Nogle gange (5–29 %) | I 2 tilstande |
| KICS2KICSTOR subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KMT5Blysine methyltransferase 5B | Nogle gange (5–29 %) | I 1 tilstand |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MECP2methyl-CpG binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MESP2mesoderm posterior bHLH transcription factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MSL2MSL complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MSX2msh homeobox 2 | Nogle gange (5–29 %) | I 2 tilstande |
| MYH8myosin heavy chain 8 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Nogle gange (5–29 %) | I 4 tilstande |
| NOTCH3notch receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| OTUD5OTU deubiquitinase 5 | Nogle gange (5–29 %) | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Nogle gange (5–29 %) | I 1 tilstand |
| PHF21APHD finger protein 21A | Nogle gange (5–29 %) | I 1 tilstand |
| PHF6PHD finger protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| PIBF1progesterone immunomodulatory binding factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PLCB4phospholipase C beta 4 | Nogle gange (5–29 %) | I 2 tilstande |
| PLCH1phospholipase C eta 1 | Nogle gange (5–29 %) | I 2 tilstande |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Nogle gange (5–29 %) | I 1 tilstand |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PTHLHparathyroid hormone like hormone | Nogle gange (5–29 %) | I 1 tilstand |
| RAB34RAB34, member RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| RAC1Rac family small GTPase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| REREarginine-glutamic acid dipeptide repeats | Nogle gange (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Nogle gange (5–29 %) | I 1 tilstand |
| RIPPLY2ripply transcriptional repressor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Nogle gange (5–29 %) | I 1 tilstand |
| RUNX2RUNX family transcription factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Nogle gange (5–29 %) | I 4 tilstande |
| SIX3SIX homeobox 3 | Nogle gange (5–29 %) | I 4 tilstande |
| SLC25A1solute carrier family 25 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Nogle gange (5–29 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Nogle gange (5–29 %) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SPINT2serine peptidase inhibitor, Kunitz type 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SPTBN1spectrin beta, non-erythrocytic 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Nogle gange (5–29 %) | I 1 tilstand |
| SRPK3SRSF protein kinase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SRRM2serine/arginine repetitive matrix 2 | Nogle gange (5–29 %) | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Nogle gange (5–29 %) | I 2 tilstande |
| STILSTIL centriolar assembly protein | Nogle gange (5–29 %) | I 4 tilstande |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| STX4syntaxin 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Nogle gange (5–29 %) | I 1 tilstand |
| TBX6T-box transcription factor 6 | Nogle gange (5–29 %) | I 2 tilstande |
| TCP1t-complex 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TET3tet methylcytosine dioxygenase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Nogle gange (5–29 %) | I 4 tilstande |
| TMEM67transmembrane protein 67 | Nogle gange (5–29 %) | I 1 tilstand |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Nogle gange (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| TUBA1Atubulin alpha 1a | Nogle gange (5–29 %) | I 1 tilstand |
| TUBB2Btubulin beta 2B class IIb | Nogle gange (5–29 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Nogle gange (5–29 %) | I 2 tilstande |
| UBE3Aubiquitin protein ligase E3A | Nogle gange (5–29 %) | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Nogle gange (5–29 %) | I 1 tilstand |
| YME1L1YME1 like 1 ATPase | Nogle gange (5–29 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Nogle gange (5–29 %) | I 4 tilstande |
| ZSWIM6zinc finger SWIM-type containing 6 | Nogle gange (5–29 %) | I 1 tilstand |
| ACADVLacyl-CoA dehydrogenase very long chain | Sjældent (1–4%) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjældent (1–4%) | I 1 tilstand |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Sjældent (1–4%) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Sjældent (1–4%) | I 2 tilstande |
| MYT1Lmyelin transcription factor 1 like | Sjældent (1–4%) | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Sjældent (1–4%) | I 1 tilstand |
| NEU1neuraminidase 1 | Sjældent (1–4%) | I 1 tilstand |
| POU4F1POU class 4 homeobox 1 | Sjældent (1–4%) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Ikke registreret | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Ikke registreret | I 1 tilstand |
| BLTP1bridge-like lipid transfer protein family member 1 | Ikke registreret | I 1 tilstand |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Ikke registreret | I 1 tilstand |
| CCDC28Bcoiled-coil domain containing 28B | Ikke registreret | I 1 tilstand |
| CSF1Rcolony stimulating factor 1 receptor | Ikke registreret | I 1 tilstand |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Ikke registreret | I 1 tilstand |
| ETFAelectron transfer flavoprotein subunit alpha | Ikke registreret | I 1 tilstand |
| ETFBelectron transfer flavoprotein subunit beta | Ikke registreret | I 1 tilstand |
| ETFDHelectron transfer flavoprotein dehydrogenase | Ikke registreret | I 1 tilstand |
| FAM111AFAM111 trypsin like peptidase A | Ikke registreret | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Ikke registreret | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ikke registreret | I 1 tilstand |
| H1-4H1.4 linker histone, cluster member | Ikke registreret | I 1 tilstand |
| HDAC6histone deacetylase 6 | Ikke registreret | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ikke registreret | I 1 tilstand |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Ikke registreret | I 1 tilstand |
| KLLNkillin, p53 regulated DNA replication inhibitor | Ikke registreret | I 1 tilstand |
| KMT2Elysine methyltransferase 2E (inactive) | Ikke registreret | I 1 tilstand |
| L1CAML1 cell adhesion molecule | Ikke registreret | I 2 tilstande |
| LAMB1laminin subunit beta 1 | Ikke registreret | I 1 tilstand |
| LRP4LDL receptor related protein 4 | Ikke registreret | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Ikke registreret | I 1 tilstand |
| MOCS1molybdenum cofactor synthesis 1 | Ikke registreret | I 1 tilstand |
| MOCS2molybdenum cofactor synthesis 2 | Ikke registreret | I 1 tilstand |
| MTM1myotubularin 1 | Ikke registreret | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Ikke registreret | I 1 tilstand |
| NKX3-2NK3 homeobox 2 | Ikke registreret | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Ikke registreret | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ikke registreret | I 1 tilstand |
| POC1APOC1 centriolar protein A | Ikke registreret | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ikke registreret | I 1 tilstand |
| SEC23ASEC23 homolog A, COPII component | Ikke registreret | I 1 tilstand |
| SEC23BSEC23 homolog B, COPII component | Ikke registreret | I 1 tilstand |
| SETD2SET domain containing 2, histone lysine methyltransferase | Ikke registreret | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Ikke registreret | I 1 tilstand |
| TBL1Xtransducin beta like 1 X-linked | Ikke registreret | I 1 tilstand |
| TMEM216transmembrane protein 216 | Ikke registreret | I 1 tilstand |
| TMEM94transmembrane protein 94 | Ikke registreret | I 1 tilstand |
| ZNF469zinc finger protein 469 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger