Požymis
Big calvaria
Klinikinis pavadinimas: 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.
Santrauka
- Taip pat vadinama
- 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
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Big calvaria, and the rest of your genome, with one test.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Big calvaria. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Visada | 1 ligoje |
| ANKHANKH inorganic pyrophosphate transport regulator | Visada | 1 ligoje |
| APC2APC regulator of Wnt signaling pathway 2 | Visada | 2 ligose |
| AQP4aquaporin 4 | Visada | 1 ligoje |
| ASH1LASH1 like histone lysine methyltransferase | Visada | 1 ligoje |
| ASXL2ASXL transcriptional regulator 2 | Visada | 1 ligoje |
| AXIN1axin 1 | Visada | 1 ligoje |
| B4GALT1beta-1,4-galactosyltransferase 1 | Visada | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Visada | 4 ligose |
| CNTNAP2contactin associated protein 2 | Visada | 1 ligoje |
| CWC27CWC27 spliceosome associated cyclophilin | Visada | 1 ligoje |
| DICER1dicer 1, ribonuclease III | Visada | 1 ligoje |
| DSTdystonin | Visada | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Visada | 3 ligose |
| EEDembryonic ectoderm development | Visada | 1 ligoje |
| EIF4A2eukaryotic translation initiation factor 4A2 | Visada | 1 ligoje |
| EML1EMAP like 1 | Visada | 1 ligoje |
| EXT2exostosin glycosyltransferase 2 | Visada | 2 ligose |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Visada | 2 ligose |
| FBN1fibrillin 1 | Visada | 1 ligoje |
| FEM1Bfem-1 homolog B | Visada | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Visada | 10 ligose |
| FIBPFGF1 intracellular binding protein | Visada | 2 ligose |
| FLNAfilamin A | Visada | 1 ligoje |
| GANgigaxonin | Visada | 1 ligoje |
| GNB2G protein subunit beta 2 | Visada | 1 ligoje |
| GNSglucosamine (N-acetyl)-6-sulfatase | Visada | 1 ligoje |
| GPRC5BG protein-coupled receptor class C group 5 member B | Visada | 1 ligoje |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Visada | 1 ligoje |
| HEPACAMhepatic and glial cell adhesion molecule | Visada | 4 ligose |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Visada | 2 ligose |
| IDUAalpha-L-iduronidase | Visada | 1 ligoje |
| IFT74intraflagellar transport 74 | Visada | 1 ligoje |
| IGBP1immunoglobulin binding protein 1 | Visada | 2 ligose |
| IL6STinterleukin 6 cytokine family signal transducer | Visada | 1 ligoje |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| KIF7kinesin family member 7 | Visada | 4 ligose |
| LRRC7leucine rich repeat containing 7 | Visada | 1 ligoje |
Rodyti dar 386 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| MITFmelanocyte inducing transcription factor | Visada | 1 ligoje |
| MLC1modulator of VRAC current 1 | Visada | 1 ligoje |
| MTORmechanistic target of rapamycin kinase | Visada | 3 ligose |
| NFIAnuclear factor I A | Visada | 2 ligose |
| NFIXnuclear factor I X | Visada | 2 ligose |
| NONOnon-POU domain containing octamer binding | Visada | 1 ligoje |
| ODC1ornithine decarboxylase 1 | Visada | 2 ligose |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Visada | 1 ligoje |
| PLECplectin | Visada | 1 ligoje |
| PLGplasminogen | Visada | 1 ligoje |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Visada | 1 ligoje |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Visada | 1 ligoje |
| RIN2Ras and Rab interactor 2 | Visada | 1 ligoje |
| RNF125ring finger protein 125 | Visada | 1 ligoje |
| RRAGCRas related GTP binding C | Visada | 1 ligoje |
| SONSON DNA and RNA binding protein | Visada | 1 ligoje |
| SPIN4spindlin family member 4 | Visada | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Visada | 3 ligose |
| TBC1D7TBC1 domain family member 7 | Visada | 2 ligose |
| TBX15T-box transcription factor 15 | Visada | 2 ligose |
| TCF20transcription factor 20 | Visada | 1 ligoje |
| THOC2THO complex subunit 2 | Visada | 1 ligoje |
| TRIP11thyroid hormone receptor interactor 11 | Visada | 2 ligose |
| ZFXzinc finger protein X-linked | Visada | 1 ligoje |
| ADKadenosine kinase | Labai dažnai (80–99%) | 1 ligoje |
| AKT3AKT serine/threonine kinase 3 | Labai dažnai (80–99%) | 3 ligose |
| ANTXR2ANTXR cell adhesion molecule 2 | Labai dažnai (80–99%) | 1 ligoje |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Labai dažnai (80–99%) | 1 ligoje |
| ASPAaspartoacylase | Labai dažnai (80–99%) | 3 ligose |
| B4GALT7beta-1,4-galactosyltransferase 7 | Labai dažnai (80–99%) | 2 ligose |
| CCND2cyclin D2 | Labai dažnai (80–99%) | 2 ligose |
| CHD4chromodomain helicase DNA binding protein 4 | Labai dažnai (80–99%) | 1 ligoje |
| CLCN7Cl-/H+ antiporter 7 | Labai dažnai (80–99%) | 2 ligose |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Labai dažnai (80–99%) | 1 ligoje |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Labai dažnai (80–99%) | 1 ligoje |
| DMPKDM1 protein kinase | Labai dažnai (80–99%) | 1 ligoje |
| DNMT3ADNA methyltransferase 3 alpha | Labai dažnai (80–99%) | 2 ligose |
| FAM177A1family with sequence similarity 177 member A1 | Labai dažnai (80–99%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Labai dažnai (80–99%) | 1 ligoje |
| GLI3GLI family zinc finger 3 | Labai dažnai (80–99%) | 4 ligose |
| GPC3glypican 3 | Labai dažnai (80–99%) | 2 ligose |
| GPC4glypican 4 | Labai dažnai (80–99%) | 3 ligose |
| GUSBglucuronidase beta | Labai dažnai (80–99%) | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 2 ligose |
| IDSiduronate 2-sulfatase | Labai dažnai (80–99%) | 1 ligoje |
| INPPL1inositol polyphosphate phosphatase like 1 | Labai dažnai (80–99%) | 3 ligose |
| KPTNkaptin, actin binding protein | Labai dažnai (80–99%) | 2 ligose |
| LRP5LDL receptor related protein 5 | Labai dažnai (80–99%) | 1 ligoje |
| MACROH2A1macroH2A.1 histone | Labai dažnai (80–99%) | 1 ligoje |
| MED12mediator complex subunit 12 | Labai dažnai (80–99%) | 3 ligose |
| MEGF8multiple EGF like domains 8 | Labai dažnai (80–99%) | 1 ligoje |
| NFIBnuclear factor I B | Labai dažnai (80–99%) | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Labai dažnai (80–99%) | 4 ligose |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Labai dažnai (80–99%) | 3 ligose |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Labai dažnai (80–99%) | 2 ligose |
| PITX1paired like homeodomain 1 | Labai dažnai (80–99%) | 1 ligoje |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Labai dažnai (80–99%) | 2 ligose |
| PTCH1patched 1 | Labai dažnai (80–99%) | 8 ligose |
| PTDSS1phosphatidylserine synthase 1 | Labai dažnai (80–99%) | 1 ligoje |
| PTENphosphatase and tensin homolog | Labai dažnai (80–99%) | 7 ligose |
| RAB23RAB23, member RAS oncogene family | Labai dažnai (80–99%) | 1 ligoje |
| RAB39BRAB39B, member RAS oncogene family | Labai dažnai (80–99%) | 3 ligose |
| RNF135ring finger protein 135 | Labai dažnai (80–99%) | 1 ligoje |
| SEC24DSEC24 homolog D, COPII component | Labai dažnai (80–99%) | 1 ligoje |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Labai dažnai (80–99%) | 1 ligoje |
| SLC26A2solute carrier family 26 member 2 | Labai dažnai (80–99%) | 2 ligose |
| SLC29A3solute carrier family 29 member 3 | Labai dažnai (80–99%) | 1 ligoje |
| SLC35D1solute carrier family 35 member D1 | Labai dažnai (80–99%) | 2 ligose |
| SNX10sorting nexin 10 | Labai dažnai (80–99%) | 2 ligose |
| SOSTsclerostin | Labai dažnai (80–99%) | 2 ligose |
| SOX9SRY-box transcription factor 9 | Labai dažnai (80–99%) | 2 ligose |
| SP7Sp7 transcription factor | Labai dažnai (80–99%) | 1 ligoje |
| STRADASTE20 related adaptor alpha | Labai dažnai (80–99%) | 2 ligose |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Labai dažnai (80–99%) | 2 ligose |
| SYN1synapsin I | Labai dažnai (80–99%) | 2 ligose |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Labai dažnai (80–99%) | 3 ligose |
| TMCO1transmembrane and coiled-coil domains 1 | Labai dažnai (80–99%) | 2 ligose |
| TNFRSF11ATNF receptor superfamily member 11a | Labai dažnai (80–99%) | 2 ligose |
| TNFRSF11BTNF receptor superfamily member 11b | Labai dažnai (80–99%) | 2 ligose |
| TNFSF11TNF superfamily member 11 | Labai dažnai (80–99%) | 1 ligoje |
| TRIM37tripartite motif containing 37 | Labai dažnai (80–99%) | 1 ligoje |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Labai dažnai (80–99%) | 2 ligose |
| ZBTB7Azinc finger and BTB domain containing 7A | Labai dažnai (80–99%) | 1 ligoje |
| ZDHHC9zDHHC palmitoyltransferase 9 | Labai dažnai (80–99%) | 1 ligoje |
| ZIC1Zic family zinc finger 1 | Labai dažnai (80–99%) | 1 ligoje |
| ZIC4Zic family zinc finger 4 | Labai dažnai (80–99%) | 1 ligoje |
| ABCC9ATP binding cassette subfamily C member 9 | Dažnai (30–79%) | 2 ligose |
| ADGRL1adhesion G protein-coupled receptor L1 | Dažnai (30–79%) | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Dažnai (30–79%) | 1 ligoje |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Dažnai (30–79%) | 1 ligoje |
| AMER1APC membrane recruitment protein 1 | Dažnai (30–79%) | 2 ligose |
| ARSBarylsulfatase B | Dažnai (30–79%) | 1 ligoje |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| BICD2BICD cargo adaptor 2 | Dažnai (30–79%) | 1 ligoje |
| BMP2bone morphogenetic protein 2 | Dažnai (30–79%) | 1 ligoje |
| BMPR1Abone morphogenetic protein receptor type 1A | Dažnai (30–79%) | 1 ligoje |
| BRWD3bromodomain and WD repeat domain containing 3 | Dažnai (30–79%) | 1 ligoje |
| CCDC22CCC complex scaffolding subunit CCDC22 | Dažnai (30–79%) | 1 ligoje |
| CCNKcyclin K | Dažnai (30–79%) | 1 ligoje |
| CDCA7cell division cycle associated 7 | Dažnai (30–79%) | 1 ligoje |
| CDH2cadherin 2 | Dažnai (30–79%) | 1 ligoje |
| CHD1chromodomain helicase DNA binding protein 1 | Dažnai (30–79%) | 2 ligose |
| CHD3chromodomain helicase DNA binding protein 3 | Dažnai (30–79%) | 1 ligoje |
| CHD8chromodomain helicase DNA binding protein 8 | Dažnai (30–79%) | 1 ligoje |
| COL4A1collagen type IV alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Dažnai (30–79%) | 2 ligose |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| CTNNB1catenin beta 1 | Dažnai (30–79%) | 1 ligoje |
| CUL4Bcullin 4B | Dažnai (30–79%) | 1 ligoje |
| DAG1dystroglycan 1 | Dažnai (30–79%) | 2 ligose |
| DNMT3BDNA methyltransferase 3 beta | Dažnai (30–79%) | 1 ligoje |
| DPH2diphthamide biosynthesis 2 | Dažnai (30–79%) | 1 ligoje |
| DPYDdihydropyrimidine dehydrogenase | Dažnai (30–79%) | 2 ligose |
| DPYSL5dihydropyrimidinase like 5 | Dažnai (30–79%) | 1 ligoje |
| DVL3dishevelled segment polarity protein 3 | Dažnai (30–79%) | 2 ligose |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Dažnai (30–79%) | 1 ligoje |
| DYNC2I1dynein 2 intermediate chain 1 | Dažnai (30–79%) | 2 ligose |
| DYNC2I2dynein 2 intermediate chain 2 | Dažnai (30–79%) | 1 ligoje |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Dažnai (30–79%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Dažnai (30–79%) | 3 ligose |
| FKRPfukutin related protein | Dažnai (30–79%) | 1 ligoje |
| FKTNfukutin | Dažnai (30–79%) | 1 ligoje |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Dažnai (30–79%) | 1 ligoje |
| FMR1fragile X messenger ribonucleoprotein 1 | Dažnai (30–79%) | 2 ligose |
| FOXP1forkhead box P1 | Dažnai (30–79%) | 2 ligose |
| FZD2frizzled class receptor 2 | Dažnai (30–79%) | 1 ligoje |
| GCDHglutaryl-CoA dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| GNAI3G protein subunit alpha i3 | Dažnai (30–79%) | 2 ligose |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Dažnai (30–79%) | 1 ligoje |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Dažnai (30–79%) | 1 ligoje |
| HELLShelicase, lymphoid specific | Dažnai (30–79%) | 1 ligoje |
| HEXBhexosaminidase subunit beta | Dažnai (30–79%) | 1 ligoje |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Dažnai (30–79%) | 1 ligoje |
| IFT43intraflagellar transport 43 | Dažnai (30–79%) | 1 ligoje |
| IFT80intraflagellar transport 80 | Dažnai (30–79%) | 1 ligoje |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Dažnai (30–79%) | 1 ligoje |
| KDM1Alysine demethylase 1A | Dažnai (30–79%) | 2 ligose |
| KRASKRas proto-oncogene, GTPase | Dažnai (30–79%) | 5 ligose |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| LBRlamin B receptor | Dažnai (30–79%) | 2 ligose |
| LRP2LDL receptor related protein 2 | Dažnai (30–79%) | 2 ligose |
| MAB21L2mab-21 like 2 | Dažnai (30–79%) | 1 ligoje |
| MAN1B1mannosidase alpha class 1B member 1 | Dažnai (30–79%) | 1 ligoje |
| MAN2C1mannosidase alpha class 2C member 1 | Dažnai (30–79%) | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Dažnai (30–79%) | 2 ligose |
| MAP2K2mitogen-activated protein kinase kinase 2 | Dažnai (30–79%) | 2 ligose |
| MAXMYC associated transcriptional regulator X | Dažnai (30–79%) | 1 ligoje |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Dažnai (30–79%) | 1 ligoje |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Dažnai (30–79%) | 1 ligoje |
| NF1neurofibromin 1 | Dažnai (30–79%) | 3 ligose |
| NKX2-5NK2 homeobox 5 | Dažnai (30–79%) | 1 ligoje |
| NLRP3NLR family pyrin domain containing 3 | Dažnai (30–79%) | 2 ligose |
| NOTCH2notch receptor 2 | Dažnai (30–79%) | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Dažnai (30–79%) | 1 ligoje |
| NXNnucleoredoxin | Dažnai (30–79%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Dažnai (30–79%) | 2 ligose |
| OPHN1oligophrenin 1 | Dažnai (30–79%) | 1 ligoje |
| PCGF2polycomb group ring finger 2 | Dažnai (30–79%) | 1 ligoje |
| PEX1peroxisomal biogenesis factor 1 | Dažnai (30–79%) | 3 ligose |
| PEX10peroxisomal biogenesis factor 10 | Dažnai (30–79%) | 2 ligose |
| PEX11Bperoxisomal biogenesis factor 11 beta | Dažnai (30–79%) | 2 ligose |
| PEX12peroxisomal biogenesis factor 12 | Dažnai (30–79%) | 2 ligose |
| PEX13peroxisomal biogenesis factor 13 | Dažnai (30–79%) | 2 ligose |
| PEX14peroxisomal biogenesis factor 14 | Dažnai (30–79%) | 2 ligose |
| PEX16peroxisomal biogenesis factor 16 | Dažnai (30–79%) | 2 ligose |
| PEX19peroxisomal biogenesis factor 19 | Dažnai (30–79%) | 2 ligose |
| PEX2peroxisomal biogenesis factor 2 | Dažnai (30–79%) | 2 ligose |
| PEX26peroxisomal biogenesis factor 26 | Dažnai (30–79%) | 2 ligose |
| PEX3peroxisomal biogenesis factor 3 | Dažnai (30–79%) | 2 ligose |
| PEX5peroxisomal biogenesis factor 5 | Dažnai (30–79%) | 2 ligose |
| PEX6peroxisomal biogenesis factor 6 | Dažnai (30–79%) | 3 ligose |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Dažnai (30–79%) | 1 ligoje |
| PKDCCprotein kinase domain containing, cytoplasmic | Dažnai (30–79%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Dažnai (30–79%) | 1 ligoje |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Dažnai (30–79%) | 1 ligoje |
| POMKprotein O-mannose kinase | Dažnai (30–79%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| PORcytochrome p450 oxidoreductase | Dažnai (30–79%) | 1 ligoje |
| PPFIA3PPFI scaffold protein A3 | Dažnai (30–79%) | 1 ligoje |
| PTCH2patched 2 | Dažnai (30–79%) | 1 ligoje |
| PTH1Rparathyroid hormone 1 receptor | Dažnai (30–79%) | 1 ligoje |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Dažnai (30–79%) | 1 ligoje |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Dažnai (30–79%) | 1 ligoje |
| ROBO3roundabout guidance receptor 3 | Dažnai (30–79%) | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Dažnai (30–79%) | 2 ligose |
| RXYLT1ribitol xylosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| SH2B1SH2B adaptor protein 1 | Dažnai (30–79%) | 1 ligoje |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Dažnai (30–79%) | 1 ligoje |
| SHPKsedoheptulokinase | Dažnai (30–79%) | 1 ligoje |
| SIM1SIM bHLH transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| SIX2SIX homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Dažnai (30–79%) | 1 ligoje |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Dažnai (30–79%) | 1 ligoje |
| SPTSSAserine palmitoyltransferase small subunit A | Dažnai (30–79%) | 1 ligoje |
| SUMF1sulfatase modifying factor 1 | Dažnai (30–79%) | 1 ligoje |
| TAOK1TAO kinase 1 | Dažnai (30–79%) | 1 ligoje |
| TBCKTBC1 domain containing kinase | Dažnai (30–79%) | 2 ligose |
| TFE3transcription factor binding to IGHM enhancer 3 | Dažnai (30–79%) | 1 ligoje |
| TMEM53transmembrane protein 53 | Dažnai (30–79%) | 1 ligoje |
| TRIOtrio Rho guanine nucleotide exchange factor | Dažnai (30–79%) | 1 ligoje |
| UBE2Aubiquitin conjugating enzyme E2 A | Dažnai (30–79%) | 2 ligose |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Dažnai (30–79%) | 1 ligoje |
| VPS35LVPS35 endosomal protein sorting factor like | Dažnai (30–79%) | 1 ligoje |
| WASHC5WASH complex subunit 5 | Dažnai (30–79%) | 1 ligoje |
| WDR35WD repeat domain 35 | Dažnai (30–79%) | 2 ligose |
| WNT5AWnt family member 5A | Dažnai (30–79%) | 2 ligose |
| ZBTB20zinc finger and BTB domain containing 20 | Dažnai (30–79%) | 1 ligoje |
| ZBTB24zinc finger and BTB domain containing 24 | Dažnai (30–79%) | 1 ligoje |
| ZBTB42zinc finger and BTB domain containing 42 | Dažnai (30–79%) | 1 ligoje |
| ACADMacyl-CoA dehydrogenase medium chain | Kartais (5–29%) | 1 ligoje |
| AFF2ALF transcription elongation factor 2 | Kartais (5–29%) | 1 ligoje |
| AGGF1angiogenic factor with G-patch and FHA domains 1 | Kartais (5–29%) | 1 ligoje |
| AKT1AKT serine/threonine kinase 1 | Kartais (5–29%) | 2 ligose |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Kartais (5–29%) | 1 ligoje |
| ANK3ankyrin 3 | Kartais (5–29%) | 1 ligoje |
| ANKRD17ankyrin repeat domain 17 | Kartais (5–29%) | 1 ligoje |
| B3GLCTbeta 3-glucosyltransferase | Kartais (5–29%) | 1 ligoje |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Kartais (5–29%) | 1 ligoje |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Kartais (5–29%) | 1 ligoje |
| CAMTA1calmodulin binding transcription activator 1 | Kartais (5–29%) | 2 ligose |
| CC2D2Acoiled-coil and C2 domain containing 2A | Kartais (5–29%) | 1 ligoje |
| CDC42BPBCDC42 binding protein kinase beta | Kartais (5–29%) | 1 ligoje |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Kartais (5–29%) | 1 ligoje |
| CDONcell adhesion associated, oncogene regulated | Kartais (5–29%) | 4 ligose |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Kartais (5–29%) | 1 ligoje |
| CLCN3Cl-/H+ antiporter 3 | Kartais (5–29%) | 1 ligoje |
| CLCN4Cl-/H+ antiporter 4 | Kartais (5–29%) | 1 ligoje |
| CRELD1CRELD disulfide isomerase 1 | Kartais (5–29%) | 1 ligoje |
| CRIPTOcripto, EGF-CFC family member | Kartais (5–29%) | 4 ligose |
| DEAF1DEAF1 transcription factor | Kartais (5–29%) | 1 ligoje |
| DHCR2424-dehydrocholesterol reductase | Kartais (5–29%) | 2 ligose |
| DHRS3dehydrogenase/reductase 3 | Kartais (5–29%) | 1 ligoje |
| DISP1dispatched RND transporter family member 1 | Kartais (5–29%) | 4 ligose |
| DLL1delta like canonical Notch ligand 1 | Kartais (5–29%) | 5 ligose |
| DLL3delta like canonical Notch ligand 3 | Kartais (5–29%) | 1 ligoje |
| DOCK6dedicator of cytokinesis 6 | Kartais (5–29%) | 1 ligoje |
| DPYSdihydropyrimidinase | Kartais (5–29%) | 1 ligoje |
| EDN1endothelin 1 | Kartais (5–29%) | 1 ligoje |
| ERFETS2 repressor factor | Kartais (5–29%) | 1 ligoje |
| ERMARDER membrane associated RNA degradation | Kartais (5–29%) | 1 ligoje |
| FAM149B1family with sequence similarity 149 member B1 | Kartais (5–29%) | 1 ligoje |
| FAR1fatty acyl-CoA reductase 1 | Kartais (5–29%) | 1 ligoje |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| FBXW7F-box and WD repeat domain containing 7 | Kartais (5–29%) | 1 ligoje |
| FGF8fibroblast growth factor 8 | Kartais (5–29%) | 4 ligose |
| FIG4FIG4 phosphoinositide 5-phosphatase | Kartais (5–29%) | 1 ligoje |
| FOXH1forkhead box H1 | Kartais (5–29%) | 4 ligose |
| FOXP2forkhead box P2 | Kartais (5–29%) | 1 ligoje |
| GAD1glutamate decarboxylase 1 | Kartais (5–29%) | 1 ligoje |
| GAS1growth arrest specific 1 | Kartais (5–29%) | 4 ligose |
| GLI2GLI family zinc finger 2 | Kartais (5–29%) | 4 ligose |
| GNAQG protein subunit alpha q | Kartais (5–29%) | 2 ligose |
| GNB1G protein subunit beta 1 | Kartais (5–29%) | 1 ligoje |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Kartais (5–29%) | 2 ligose |
| H3-3AH3.3 histone A | Kartais (5–29%) | 1 ligoje |
| H3-3BH3.3 histone B | Kartais (5–29%) | 1 ligoje |
| HDAC4histone deacetylase 4 | Kartais (5–29%) | 1 ligoje |
| HES7hes family bHLH transcription factor 7 | Kartais (5–29%) | 1 ligoje |
| HOXD13homeobox D13 | Kartais (5–29%) | 1 ligoje |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Kartais (5–29%) | 1 ligoje |
| IHHIndian hedgehog signaling molecule | Kartais (5–29%) | 1 ligoje |
| INPP5Einositol polyphosphate-5-phosphatase E | Kartais (5–29%) | 2 ligose |
| JARID2jumonji and AT-rich interaction domain containing 2 | Kartais (5–29%) | 1 ligoje |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Kartais (5–29%) | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Kartais (5–29%) | 1 ligoje |
| KDM5Clysine demethylase 5C | Kartais (5–29%) | 2 ligose |
| KICS2KICSTOR subunit 2 | Kartais (5–29%) | 1 ligoje |
| KMT5Blysine methyltransferase 5B | Kartais (5–29%) | 1 ligoje |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Kartais (5–29%) | 1 ligoje |
| MAN2B1mannosidase alpha class 2B member 1 | Kartais (5–29%) | 2 ligose |
| MECP2methyl-CpG binding protein 2 | Kartais (5–29%) | 1 ligoje |
| MESP2mesoderm posterior bHLH transcription factor 2 | Kartais (5–29%) | 1 ligoje |
| MSL2MSL complex subunit 2 | Kartais (5–29%) | 1 ligoje |
| MSX2msh homeobox 2 | Kartais (5–29%) | 2 ligose |
| MYH8myosin heavy chain 8 | Kartais (5–29%) | 1 ligoje |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Kartais (5–29%) | 1 ligoje |
| NODALnodal growth differentiation factor | Kartais (5–29%) | 4 ligose |
| NOTCH3notch receptor 3 | Kartais (5–29%) | 1 ligoje |
| OTUD5OTU deubiquitinase 5 | Kartais (5–29%) | 1 ligoje |
| PDGFRBplatelet derived growth factor receptor beta | Kartais (5–29%) | 1 ligoje |
| PHF21APHD finger protein 21A | Kartais (5–29%) | 1 ligoje |
| PHF6PHD finger protein 6 | Kartais (5–29%) | 1 ligoje |
| PIBF1progesterone immunomodulatory binding factor 1 | Kartais (5–29%) | 1 ligoje |
| PLCB4phospholipase C beta 4 | Kartais (5–29%) | 2 ligose |
| PLCH1phospholipase C eta 1 | Kartais (5–29%) | 2 ligose |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Kartais (5–29%) | 1 ligoje |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PTHLHparathyroid hormone like hormone | Kartais (5–29%) | 1 ligoje |
| RAB34RAB34, member RAS oncogene family | Kartais (5–29%) | 1 ligoje |
| RAC1Rac family small GTPase 1 | Kartais (5–29%) | 2 ligose |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 1 ligoje |
| RFX7regulatory factor X7 | Kartais (5–29%) | 1 ligoje |
| RIPPLY2ripply transcriptional repressor 2 | Kartais (5–29%) | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| RPGRIP1LRPGRIP1 like | Kartais (5–29%) | 1 ligoje |
| RUNX2RUNX family transcription factor 2 | Kartais (5–29%) | 1 ligoje |
| SATB2SATB homeobox 2 | Kartais (5–29%) | 1 ligoje |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Kartais (5–29%) | 1 ligoje |
| SHHsonic hedgehog signaling molecule | Kartais (5–29%) | 4 ligose |
| SIX3SIX homeobox 3 | Kartais (5–29%) | 4 ligose |
| SLC25A1solute carrier family 25 member 1 | Kartais (5–29%) | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Kartais (5–29%) | 1 ligoje |
| SLC2A10solute carrier family 2 member 10 | Kartais (5–29%) | 1 ligoje |
| SLC39A14solute carrier family 39 member 14 | Kartais (5–29%) | 1 ligoje |
| SMAD4SMAD family member 4 | Kartais (5–29%) | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Kartais (5–29%) | 1 ligoje |
| SMPD1sphingomyelin phosphodiesterase 1 | Kartais (5–29%) | 1 ligoje |
| SPINT2serine peptidase inhibitor, Kunitz type 2 | Kartais (5–29%) | 1 ligoje |
| SPRED1sprouty related EVH1 domain containing 1 | Kartais (5–29%) | 2 ligose |
| SPTBN1spectrin beta, non-erythrocytic 1 | Kartais (5–29%) | 1 ligoje |
| SRCAPSnf2 related CREBBP activator protein | Kartais (5–29%) | 1 ligoje |
| SRPK3SRSF protein kinase 3 | Kartais (5–29%) | 1 ligoje |
| SRRM2serine/arginine repetitive matrix 2 | Kartais (5–29%) | 1 ligoje |
| STAG2STAG2 cohesin complex component | Kartais (5–29%) | 2 ligose |
| STILSTIL centriolar assembly protein | Kartais (5–29%) | 4 ligose |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Kartais (5–29%) | 1 ligoje |
| STX4syntaxin 4 | Kartais (5–29%) | 1 ligoje |
| TBC1D32TBC1 domain family member 32 | Kartais (5–29%) | 1 ligoje |
| TBX6T-box transcription factor 6 | Kartais (5–29%) | 2 ligose |
| TCP1t-complex 1 | Kartais (5–29%) | 1 ligoje |
| TET3tet methylcytosine dioxygenase 3 | Kartais (5–29%) | 1 ligoje |
| TGIF1TGFB induced factor homeobox 1 | Kartais (5–29%) | 4 ligose |
| TMEM67transmembrane protein 67 | Kartais (5–29%) | 1 ligoje |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Kartais (5–29%) | 1 ligoje |
| TRAF7TNF receptor associated factor 7 | Kartais (5–29%) | 1 ligoje |
| TUBA1Atubulin alpha 1a | Kartais (5–29%) | 1 ligoje |
| TUBB2Btubulin beta 2B class IIb | Kartais (5–29%) | 1 ligoje |
| TUBB3tubulin beta 3 class III | Kartais (5–29%) | 2 ligose |
| UBE3Aubiquitin protein ligase E3A | Kartais (5–29%) | 1 ligoje |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Kartais (5–29%) | 1 ligoje |
| YME1L1YME1 like 1 ATPase | Kartais (5–29%) | 1 ligoje |
| ZIC2Zic family zinc finger 2 | Kartais (5–29%) | 4 ligose |
| ZSWIM6zinc finger SWIM-type containing 6 | Kartais (5–29%) | 1 ligoje |
| ACADVLacyl-CoA dehydrogenase very long chain | Retai (1–4 %) | 1 ligoje |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Retai (1–4 %) | 1 ligoje |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Retai (1–4 %) | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Retai (1–4 %) | 2 ligose |
| MYT1Lmyelin transcription factor 1 like | Retai (1–4 %) | 1 ligoje |
| NALCNsodium leak channel, non-selective | Retai (1–4 %) | 1 ligoje |
| NEU1neuraminidase 1 | Retai (1–4 %) | 1 ligoje |
| POU4F1POU class 4 homeobox 1 | Retai (1–4 %) | 1 ligoje |
| ARL6ARF like GTPase 6 | Neužfiksuota | 1 ligoje |
| BBS1Bardet-Biedl syndrome 1 | Neužfiksuota | 1 ligoje |
| BLTP1bridge-like lipid transfer protein family member 1 | Neužfiksuota | 1 ligoje |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Neužfiksuota | 1 ligoje |
| CCDC28Bcoiled-coil domain containing 28B | Neužfiksuota | 1 ligoje |
| CSF1Rcolony stimulating factor 1 receptor | Neužfiksuota | 1 ligoje |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Neužfiksuota | 1 ligoje |
| ETFAelectron transfer flavoprotein subunit alpha | Neužfiksuota | 1 ligoje |
| ETFBelectron transfer flavoprotein subunit beta | Neužfiksuota | 1 ligoje |
| ETFDHelectron transfer flavoprotein dehydrogenase | Neužfiksuota | 1 ligoje |
| FAM111AFAM111 trypsin like peptidase A | Neužfiksuota | 1 ligoje |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Neužfiksuota | 1 ligoje |
| GJA1gap junction protein alpha 1 | Neužfiksuota | 1 ligoje |
| H1-4H1.4 linker histone, cluster member | Neužfiksuota | 1 ligoje |
| HDAC6histone deacetylase 6 | Neužfiksuota | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Neužfiksuota | 1 ligoje |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Neužfiksuota | 1 ligoje |
| KLLNkillin, p53 regulated DNA replication inhibitor | Neužfiksuota | 1 ligoje |
| KMT2Elysine methyltransferase 2E (inactive) | Neužfiksuota | 1 ligoje |
| L1CAML1 cell adhesion molecule | Neužfiksuota | 2 ligose |
| LAMB1laminin subunit beta 1 | Neužfiksuota | 1 ligoje |
| LRP4LDL receptor related protein 4 | Neužfiksuota | 1 ligoje |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Neužfiksuota | 1 ligoje |
| MOCS1molybdenum cofactor synthesis 1 | Neužfiksuota | 1 ligoje |
| MOCS2molybdenum cofactor synthesis 2 | Neužfiksuota | 1 ligoje |
| MTM1myotubularin 1 | Neužfiksuota | 1 ligoje |
| MYMKmyomaker, myoblast fusion factor | Neužfiksuota | 1 ligoje |
| NKX3-2NK3 homeobox 2 | Neužfiksuota | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Neužfiksuota | 1 ligoje |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Neužfiksuota | 1 ligoje |
| POC1APOC1 centriolar protein A | Neužfiksuota | 1 ligoje |
| POLR3ARNA polymerase III subunit A | Neužfiksuota | 1 ligoje |
| SEC23ASEC23 homolog A, COPII component | Neužfiksuota | 1 ligoje |
| SEC23BSEC23 homolog B, COPII component | Neužfiksuota | 1 ligoje |
| SETD2SET domain containing 2, histone lysine methyltransferase | Neužfiksuota | 1 ligoje |
| SMOsmoothened, frizzled class receptor | Neužfiksuota | 1 ligoje |
| TBL1Xtransducin beta like 1 X-linked | Neužfiksuota | 1 ligoje |
| TMEM216transmembrane protein 216 | Neužfiksuota | 1 ligoje |
| TMEM94transmembrane protein 94 | Neužfiksuota | 1 ligoje |
| ZNF469zinc finger protein 469 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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