Egenskap
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.
Sammendrag
- Også kalt
- 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
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Big calvaria forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Alltid | I 1 tilstand |
| ANKHANKH inorganic pyrophosphate transport regulator | Alltid | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Alltid | I 2 tilstander |
| AQP4aquaporin 4 | Alltid | I 1 tilstand |
| ASH1LASH1 like histone lysine methyltransferase | Alltid | I 1 tilstand |
| ASXL2ASXL transcriptional regulator 2 | Alltid | I 1 tilstand |
| AXIN1axin 1 | Alltid | I 1 tilstand |
| B4GALT1beta-1,4-galactosyltransferase 1 | Alltid | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Alltid | I 4 tilstander |
| CNTNAP2contactin associated protein 2 | Alltid | I 1 tilstand |
| CWC27CWC27 spliceosome associated cyclophilin | Alltid | I 1 tilstand |
| DICER1dicer 1, ribonuclease III | Alltid | I 1 tilstand |
| DSTdystonin | Alltid | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Alltid | I 3 tilstander |
| EEDembryonic ectoderm development | Alltid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Alltid | I 1 tilstand |
| EML1EMAP like 1 | Alltid | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Alltid | I 2 tilstander |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Alltid | I 2 tilstander |
| FBN1fibrillin 1 | Alltid | I 1 tilstand |
| FEM1Bfem-1 homolog B | Alltid | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Alltid | I 10 tilstander |
| FIBPFGF1 intracellular binding protein | Alltid | I 2 tilstander |
| FLNAfilamin A | Alltid | I 1 tilstand |
| GANgigaxonin | Alltid | I 1 tilstand |
| GNB2G protein subunit beta 2 | Alltid | I 1 tilstand |
| GNSglucosamine (N-acetyl)-6-sulfatase | Alltid | I 1 tilstand |
| GPRC5BG protein-coupled receptor class C group 5 member B | Alltid | I 1 tilstand |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Alltid | I 1 tilstand |
| HEPACAMhepatic and glial cell adhesion molecule | Alltid | I 4 tilstander |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Alltid | I 2 tilstander |
| IDUAalpha-L-iduronidase | Alltid | I 1 tilstand |
| IFT74intraflagellar transport 74 | Alltid | I 1 tilstand |
| IGBP1immunoglobulin binding protein 1 | Alltid | I 2 tilstander |
| IL6STinterleukin 6 cytokine family signal transducer | Alltid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Alltid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| KIF7kinesin family member 7 | Alltid | I 4 tilstander |
| LRRC7leucine rich repeat containing 7 | Alltid | I 1 tilstand |
Vis 386 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| MITFmelanocyte inducing transcription factor | Alltid | I 1 tilstand |
| MLC1modulator of VRAC current 1 | Alltid | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Alltid | I 3 tilstander |
| NFIAnuclear factor I A | Alltid | I 2 tilstander |
| NFIXnuclear factor I X | Alltid | I 2 tilstander |
| NONOnon-POU domain containing octamer binding | Alltid | I 1 tilstand |
| ODC1ornithine decarboxylase 1 | Alltid | I 2 tilstander |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Alltid | I 1 tilstand |
| PLECplectin | Alltid | I 1 tilstand |
| PLGplasminogen | Alltid | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Alltid | I 1 tilstand |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Alltid | I 1 tilstand |
| RIN2Ras and Rab interactor 2 | Alltid | I 1 tilstand |
| RNF125ring finger protein 125 | Alltid | I 1 tilstand |
| RRAGCRas related GTP binding C | Alltid | I 1 tilstand |
| SONSON DNA and RNA binding protein | Alltid | I 1 tilstand |
| SPIN4spindlin family member 4 | Alltid | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Alltid | I 3 tilstander |
| TBC1D7TBC1 domain family member 7 | Alltid | I 2 tilstander |
| TBX15T-box transcription factor 15 | Alltid | I 2 tilstander |
| TCF20transcription factor 20 | Alltid | I 1 tilstand |
| THOC2THO complex subunit 2 | Alltid | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Alltid | I 2 tilstander |
| ZFXzinc finger protein X-linked | Alltid | I 1 tilstand |
| ADKadenosine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| AKT3AKT serine/threonine kinase 3 | Svært ofte (80–99 %) | I 3 tilstander |
| ANTXR2ANTXR cell adhesion molecule 2 | Svært ofte (80–99 %) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ASPAaspartoacylase | Svært ofte (80–99 %) | I 3 tilstander |
| B4GALT7beta-1,4-galactosyltransferase 7 | Svært ofte (80–99 %) | I 2 tilstander |
| CCND2cyclin D2 | Svært ofte (80–99 %) | I 2 tilstander |
| CHD4chromodomain helicase DNA binding protein 4 | Svært ofte (80–99 %) | I 1 tilstand |
| CLCN7Cl-/H+ antiporter 7 | Svært ofte (80–99 %) | I 2 tilstander |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Svært ofte (80–99 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Svært ofte (80–99 %) | I 1 tilstand |
| DMPKDM1 protein kinase | Svært ofte (80–99 %) | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Svært ofte (80–99 %) | I 2 tilstander |
| FAM177A1family with sequence similarity 177 member A1 | Svært ofte (80–99 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Svært ofte (80–99 %) | I 4 tilstander |
| GPC3glypican 3 | Svært ofte (80–99 %) | I 2 tilstander |
| GPC4glypican 4 | Svært ofte (80–99 %) | I 3 tilstander |
| GUSBglucuronidase beta | Svært ofte (80–99 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 2 tilstander |
| IDSiduronate 2-sulfatase | Svært ofte (80–99 %) | I 1 tilstand |
| INPPL1inositol polyphosphate phosphatase like 1 | Svært ofte (80–99 %) | I 3 tilstander |
| KPTNkaptin, actin binding protein | Svært ofte (80–99 %) | I 2 tilstander |
| LRP5LDL receptor related protein 5 | Svært ofte (80–99 %) | I 1 tilstand |
| MACROH2A1macroH2A.1 histone | Svært ofte (80–99 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Svært ofte (80–99 %) | I 3 tilstander |
| MEGF8multiple EGF like domains 8 | Svært ofte (80–99 %) | I 1 tilstand |
| NFIBnuclear factor I B | Svært ofte (80–99 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Svært ofte (80–99 %) | I 4 tilstander |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Svært ofte (80–99 %) | I 3 tilstander |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Svært ofte (80–99 %) | I 2 tilstander |
| PITX1paired like homeodomain 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Svært ofte (80–99 %) | I 2 tilstander |
| PTCH1patched 1 | Svært ofte (80–99 %) | I 8 tilstander |
| PTDSS1phosphatidylserine synthase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Svært ofte (80–99 %) | I 7 tilstander |
| RAB23RAB23, member RAS oncogene family | Svært ofte (80–99 %) | I 1 tilstand |
| RAB39BRAB39B, member RAS oncogene family | Svært ofte (80–99 %) | I 3 tilstander |
| RNF135ring finger protein 135 | Svært ofte (80–99 %) | I 1 tilstand |
| SEC24DSEC24 homolog D, COPII component | Svært ofte (80–99 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Svært ofte (80–99 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Svært ofte (80–99 %) | I 2 tilstander |
| SLC29A3solute carrier family 29 member 3 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC35D1solute carrier family 35 member D1 | Svært ofte (80–99 %) | I 2 tilstander |
| SNX10sorting nexin 10 | Svært ofte (80–99 %) | I 2 tilstander |
| SOSTsclerostin | Svært ofte (80–99 %) | I 2 tilstander |
| SOX9SRY-box transcription factor 9 | Svært ofte (80–99 %) | I 2 tilstander |
| SP7Sp7 transcription factor | Svært ofte (80–99 %) | I 1 tilstand |
| STRADASTE20 related adaptor alpha | Svært ofte (80–99 %) | I 2 tilstander |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Svært ofte (80–99 %) | I 2 tilstander |
| SYN1synapsin I | Svært ofte (80–99 %) | I 2 tilstander |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Svært ofte (80–99 %) | I 3 tilstander |
| TMCO1transmembrane and coiled-coil domains 1 | Svært ofte (80–99 %) | I 2 tilstander |
| TNFRSF11ATNF receptor superfamily member 11a | Svært ofte (80–99 %) | I 2 tilstander |
| TNFRSF11BTNF receptor superfamily member 11b | Svært ofte (80–99 %) | I 2 tilstander |
| TNFSF11TNF superfamily member 11 | Svært ofte (80–99 %) | I 1 tilstand |
| TRIM37tripartite motif containing 37 | Svært ofte (80–99 %) | I 1 tilstand |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Svært ofte (80–99 %) | I 2 tilstander |
| ZBTB7Azinc finger and BTB domain containing 7A | Svært ofte (80–99 %) | I 1 tilstand |
| ZDHHC9zDHHC palmitoyltransferase 9 | Svært ofte (80–99 %) | I 1 tilstand |
| ZIC1Zic family zinc finger 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ZIC4Zic family zinc finger 4 | Svært ofte (80–99 %) | I 1 tilstand |
| ABCC9ATP binding cassette subfamily C member 9 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| DPYSL5dihydropyrimidinase like 5 | Ofte (30–79 %) | I 1 tilstand |
| DVL3dishevelled segment polarity protein 3 | Ofte (30–79 %) | I 2 tilstander |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Ofte (30–79 %) | I 1 tilstand |
| DYNC2I1dynein 2 intermediate chain 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| FOXP1forkhead box P1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 5 tilstander |
| 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 tilstander |
| LRP2LDL receptor related protein 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| NKX2-5NK2 homeobox 5 | Ofte (30–79 %) | I 1 tilstand |
| NLRP3NLR family pyrin domain containing 3 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| PEX10peroxisomal biogenesis factor 10 | Ofte (30–79 %) | I 2 tilstander |
| PEX11Bperoxisomal biogenesis factor 11 beta | Ofte (30–79 %) | I 2 tilstander |
| PEX12peroxisomal biogenesis factor 12 | Ofte (30–79 %) | I 2 tilstander |
| PEX13peroxisomal biogenesis factor 13 | Ofte (30–79 %) | I 2 tilstander |
| PEX14peroxisomal biogenesis factor 14 | Ofte (30–79 %) | I 2 tilstander |
| PEX16peroxisomal biogenesis factor 16 | Ofte (30–79 %) | I 2 tilstander |
| PEX19peroxisomal biogenesis factor 19 | Ofte (30–79 %) | I 2 tilstander |
| PEX2peroxisomal biogenesis factor 2 | Ofte (30–79 %) | I 2 tilstander |
| PEX26peroxisomal biogenesis factor 26 | Ofte (30–79 %) | I 2 tilstander |
| PEX3peroxisomal biogenesis factor 3 | Ofte (30–79 %) | I 2 tilstander |
| PEX5peroxisomal biogenesis factor 5 | Ofte (30–79 %) | I 2 tilstander |
| PEX6peroxisomal biogenesis factor 6 | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| WNT5AWnt family member 5A | Ofte (30–79 %) | I 2 tilstander |
| 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 | Noen ganger (5–29 %) | I 1 tilstand |
| AFF2ALF transcription elongation factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| AGGF1angiogenic factor with G-patch and FHA domains 1 | Noen ganger (5–29 %) | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ANK3ankyrin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ANKRD17ankyrin repeat domain 17 | Noen ganger (5–29 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Noen ganger (5–29 %) | I 1 tilstand |
| CAMTA1calmodulin binding transcription activator 1 | Noen ganger (5–29 %) | I 2 tilstander |
| CC2D2Acoiled-coil and C2 domain containing 2A | Noen ganger (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Noen ganger (5–29 %) | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Noen ganger (5–29 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Noen ganger (5–29 %) | I 4 tilstander |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Noen ganger (5–29 %) | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Noen ganger (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CRIPTOcripto, EGF-CFC family member | Noen ganger (5–29 %) | I 4 tilstander |
| DEAF1DEAF1 transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Noen ganger (5–29 %) | I 2 tilstander |
| DHRS3dehydrogenase/reductase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DISP1dispatched RND transporter family member 1 | Noen ganger (5–29 %) | I 4 tilstander |
| DLL1delta like canonical Notch ligand 1 | Noen ganger (5–29 %) | I 5 tilstander |
| DLL3delta like canonical Notch ligand 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DOCK6dedicator of cytokinesis 6 | Noen ganger (5–29 %) | I 1 tilstand |
| DPYSdihydropyrimidinase | Noen ganger (5–29 %) | I 1 tilstand |
| EDN1endothelin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ERFETS2 repressor factor | Noen ganger (5–29 %) | I 1 tilstand |
| ERMARDER membrane associated RNA degradation | Noen ganger (5–29 %) | I 1 tilstand |
| FAM149B1family with sequence similarity 149 member B1 | Noen ganger (5–29 %) | I 1 tilstand |
| FAR1fatty acyl-CoA reductase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXW7F-box and WD repeat domain containing 7 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Noen ganger (5–29 %) | I 4 tilstander |
| FIG4FIG4 phosphoinositide 5-phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| FOXH1forkhead box H1 | Noen ganger (5–29 %) | I 4 tilstander |
| FOXP2forkhead box P2 | Noen ganger (5–29 %) | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Noen ganger (5–29 %) | I 4 tilstander |
| GLI2GLI family zinc finger 2 | Noen ganger (5–29 %) | I 4 tilstander |
| GNAQG protein subunit alpha q | Noen ganger (5–29 %) | I 2 tilstander |
| GNB1G protein subunit beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Noen ganger (5–29 %) | I 2 tilstander |
| H3-3AH3.3 histone A | Noen ganger (5–29 %) | I 1 tilstand |
| H3-3BH3.3 histone B | Noen ganger (5–29 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| HES7hes family bHLH transcription factor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| HOXD13homeobox D13 | Noen ganger (5–29 %) | I 1 tilstand |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IHHIndian hedgehog signaling molecule | Noen ganger (5–29 %) | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Noen ganger (5–29 %) | I 2 tilstander |
| JARID2jumonji and AT-rich interaction domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM5Clysine demethylase 5C | Noen ganger (5–29 %) | I 2 tilstander |
| KICS2KICSTOR subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KMT5Blysine methyltransferase 5B | Noen ganger (5–29 %) | I 1 tilstand |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MECP2methyl-CpG binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MESP2mesoderm posterior bHLH transcription factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MSL2MSL complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MSX2msh homeobox 2 | Noen ganger (5–29 %) | I 2 tilstander |
| MYH8myosin heavy chain 8 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Noen ganger (5–29 %) | I 4 tilstander |
| NOTCH3notch receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| OTUD5OTU deubiquitinase 5 | Noen ganger (5–29 %) | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Noen ganger (5–29 %) | I 1 tilstand |
| PHF21APHD finger protein 21A | Noen ganger (5–29 %) | I 1 tilstand |
| PHF6PHD finger protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| PIBF1progesterone immunomodulatory binding factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PLCB4phospholipase C beta 4 | Noen ganger (5–29 %) | I 2 tilstander |
| PLCH1phospholipase C eta 1 | Noen ganger (5–29 %) | I 2 tilstander |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PTHLHparathyroid hormone like hormone | Noen ganger (5–29 %) | I 1 tilstand |
| RAB34RAB34, member RAS oncogene family | Noen ganger (5–29 %) | I 1 tilstand |
| RAC1Rac family small GTPase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| REREarginine-glutamic acid dipeptide repeats | Noen ganger (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Noen ganger (5–29 %) | I 1 tilstand |
| RIPPLY2ripply transcriptional repressor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Noen ganger (5–29 %) | I 1 tilstand |
| RUNX2RUNX family transcription factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Noen ganger (5–29 %) | I 4 tilstander |
| SIX3SIX homeobox 3 | Noen ganger (5–29 %) | I 4 tilstander |
| SLC25A1solute carrier family 25 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Noen ganger (5–29 %) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SPINT2serine peptidase inhibitor, Kunitz type 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SPTBN1spectrin beta, non-erythrocytic 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Noen ganger (5–29 %) | I 1 tilstand |
| SRPK3SRSF protein kinase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SRRM2serine/arginine repetitive matrix 2 | Noen ganger (5–29 %) | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Noen ganger (5–29 %) | I 2 tilstander |
| STILSTIL centriolar assembly protein | Noen ganger (5–29 %) | I 4 tilstander |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| STX4syntaxin 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX6T-box transcription factor 6 | Noen ganger (5–29 %) | I 2 tilstander |
| TCP1t-complex 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TET3tet methylcytosine dioxygenase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Noen ganger (5–29 %) | I 4 tilstander |
| TMEM67transmembrane protein 67 | Noen ganger (5–29 %) | I 1 tilstand |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Noen ganger (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| TUBA1Atubulin alpha 1a | Noen ganger (5–29 %) | I 1 tilstand |
| TUBB2Btubulin beta 2B class IIb | Noen ganger (5–29 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Noen ganger (5–29 %) | I 2 tilstander |
| UBE3Aubiquitin protein ligase E3A | Noen ganger (5–29 %) | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Noen ganger (5–29 %) | I 1 tilstand |
| YME1L1YME1 like 1 ATPase | Noen ganger (5–29 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Noen ganger (5–29 %) | I 4 tilstander |
| ZSWIM6zinc finger SWIM-type containing 6 | Noen ganger (5–29 %) | I 1 tilstand |
| ACADVLacyl-CoA dehydrogenase very long chain | Sjelden (1–4%) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjelden (1–4%) | I 1 tilstand |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Sjelden (1–4%) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Sjelden (1–4%) | I 2 tilstander |
| MYT1Lmyelin transcription factor 1 like | Sjelden (1–4%) | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Sjelden (1–4%) | I 1 tilstand |
| NEU1neuraminidase 1 | Sjelden (1–4%) | I 1 tilstand |
| POU4F1POU class 4 homeobox 1 | Sjelden (1–4%) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Ikke registrert | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Ikke registrert | I 1 tilstand |
| BLTP1bridge-like lipid transfer protein family member 1 | Ikke registrert | I 1 tilstand |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Ikke registrert | I 1 tilstand |
| CCDC28Bcoiled-coil domain containing 28B | Ikke registrert | I 1 tilstand |
| CSF1Rcolony stimulating factor 1 receptor | Ikke registrert | I 1 tilstand |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Ikke registrert | I 1 tilstand |
| ETFAelectron transfer flavoprotein subunit alpha | Ikke registrert | I 1 tilstand |
| ETFBelectron transfer flavoprotein subunit beta | Ikke registrert | I 1 tilstand |
| ETFDHelectron transfer flavoprotein dehydrogenase | Ikke registrert | I 1 tilstand |
| FAM111AFAM111 trypsin like peptidase A | Ikke registrert | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Ikke registrert | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ikke registrert | I 1 tilstand |
| H1-4H1.4 linker histone, cluster member | Ikke registrert | I 1 tilstand |
| HDAC6histone deacetylase 6 | Ikke registrert | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ikke registrert | I 1 tilstand |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Ikke registrert | I 1 tilstand |
| KLLNkillin, p53 regulated DNA replication inhibitor | Ikke registrert | I 1 tilstand |
| KMT2Elysine methyltransferase 2E (inactive) | Ikke registrert | I 1 tilstand |
| L1CAML1 cell adhesion molecule | Ikke registrert | I 2 tilstander |
| LAMB1laminin subunit beta 1 | Ikke registrert | I 1 tilstand |
| LRP4LDL receptor related protein 4 | Ikke registrert | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Ikke registrert | I 1 tilstand |
| MOCS1molybdenum cofactor synthesis 1 | Ikke registrert | I 1 tilstand |
| MOCS2molybdenum cofactor synthesis 2 | Ikke registrert | I 1 tilstand |
| MTM1myotubularin 1 | Ikke registrert | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Ikke registrert | I 1 tilstand |
| NKX3-2NK3 homeobox 2 | Ikke registrert | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Ikke registrert | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ikke registrert | I 1 tilstand |
| POC1APOC1 centriolar protein A | Ikke registrert | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ikke registrert | I 1 tilstand |
| SEC23ASEC23 homolog A, COPII component | Ikke registrert | I 1 tilstand |
| SEC23BSEC23 homolog B, COPII component | Ikke registrert | I 1 tilstand |
| SETD2SET domain containing 2, histone lysine methyltransferase | Ikke registrert | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Ikke registrert | I 1 tilstand |
| TBL1Xtransducin beta like 1 X-linked | Ikke registrert | I 1 tilstand |
| TMEM216transmembrane protein 216 | Ikke registrert | I 1 tilstand |
| TMEM94transmembrane protein 94 | Ikke registrert | I 1 tilstand |
| ZNF469zinc finger protein 469 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
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