Cecha
Big calvaria
Nazwa kliniczna: 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.
Podsumowanie
- Znana także jako
- 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
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Big calvaria, and the rest of your genome, with one test.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni
Zamawiam Genome Test426 genów powiązanych z Big calvaria
Zmiany w tych genach powodują rzadkie choroby, w których występuje Big calvaria. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Zawsze | W 1 chorobie |
| ANKHANKH inorganic pyrophosphate transport regulator | Zawsze | W 1 chorobie |
| APC2APC regulator of Wnt signaling pathway 2 | Zawsze | W 2 chorobach |
| AQP4aquaporin 4 | Zawsze | W 1 chorobie |
| ASH1LASH1 like histone lysine methyltransferase | Zawsze | W 1 chorobie |
| ASXL2ASXL transcriptional regulator 2 | Zawsze | W 1 chorobie |
| AXIN1axin 1 | Zawsze | W 1 chorobie |
| B4GALT1beta-1,4-galactosyltransferase 1 | Zawsze | W 1 chorobie |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Zawsze | W 4 chorobach |
| CNTNAP2contactin associated protein 2 | Zawsze | W 1 chorobie |
| CWC27CWC27 spliceosome associated cyclophilin | Zawsze | W 1 chorobie |
| DICER1dicer 1, ribonuclease III | Zawsze | W 1 chorobie |
| DSTdystonin | Zawsze | W 1 chorobie |
| DVL1dishevelled segment polarity protein 1 | Zawsze | W 3 chorobach |
| EEDembryonic ectoderm development | Zawsze | W 1 chorobie |
| EIF4A2eukaryotic translation initiation factor 4A2 | Zawsze | W 1 chorobie |
| EML1EMAP like 1 | Zawsze | W 1 chorobie |
| EXT2exostosin glycosyltransferase 2 | Zawsze | W 2 chorobach |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Zawsze | W 2 chorobach |
| FBN1fibrillin 1 | Zawsze | W 1 chorobie |
| FEM1Bfem-1 homolog B | Zawsze | W 1 chorobie |
| FGFR3fibroblast growth factor receptor 3 | Zawsze | W 10 chorobach |
| FIBPFGF1 intracellular binding protein | Zawsze | W 2 chorobach |
| FLNAfilamin A | Zawsze | W 1 chorobie |
| GANgigaxonin | Zawsze | W 1 chorobie |
| GNB2G protein subunit beta 2 | Zawsze | W 1 chorobie |
| GNSglucosamine (N-acetyl)-6-sulfatase | Zawsze | W 1 chorobie |
| GPRC5BG protein-coupled receptor class C group 5 member B | Zawsze | W 1 chorobie |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Zawsze | W 1 chorobie |
| HEPACAMhepatic and glial cell adhesion molecule | Zawsze | W 4 chorobach |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Zawsze | W 2 chorobach |
| IDUAalpha-L-iduronidase | Zawsze | W 1 chorobie |
| IFT74intraflagellar transport 74 | Zawsze | W 1 chorobie |
| IGBP1immunoglobulin binding protein 1 | Zawsze | W 2 chorobach |
| IL6STinterleukin 6 cytokine family signal transducer | Zawsze | W 1 chorobie |
| JKAMPJNK1/MAPK8 associated membrane protein | Zawsze | W 1 chorobie |
| KDM2Blysine demethylase 2B | Zawsze | W 1 chorobie |
| KDM6Blysine demethylase 6B | Zawsze | W 1 chorobie |
| KIF7kinesin family member 7 | Zawsze | W 4 chorobach |
| LRRC7leucine rich repeat containing 7 | Zawsze | W 1 chorobie |
Pokaż jeszcze 386 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| MITFmelanocyte inducing transcription factor | Zawsze | W 1 chorobie |
| MLC1modulator of VRAC current 1 | Zawsze | W 1 chorobie |
| MTORmechanistic target of rapamycin kinase | Zawsze | W 3 chorobach |
| NFIAnuclear factor I A | Zawsze | W 2 chorobach |
| NFIXnuclear factor I X | Zawsze | W 2 chorobach |
| NONOnon-POU domain containing octamer binding | Zawsze | W 1 chorobie |
| ODC1ornithine decarboxylase 1 | Zawsze | W 2 chorobach |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Zawsze | W 1 chorobie |
| PLECplectin | Zawsze | W 1 chorobie |
| PLGplasminogen | Zawsze | W 1 chorobie |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Zawsze | W 1 chorobie |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Zawsze | W 1 chorobie |
| RIN2Ras and Rab interactor 2 | Zawsze | W 1 chorobie |
| RNF125ring finger protein 125 | Zawsze | W 1 chorobie |
| RRAGCRas related GTP binding C | Zawsze | W 1 chorobie |
| SONSON DNA and RNA binding protein | Zawsze | W 1 chorobie |
| SPIN4spindlin family member 4 | Zawsze | W 1 chorobie |
| SUFUSUFU negative regulator of hedgehog signaling | Zawsze | W 3 chorobach |
| TBC1D7TBC1 domain family member 7 | Zawsze | W 2 chorobach |
| TBX15T-box transcription factor 15 | Zawsze | W 2 chorobach |
| TCF20transcription factor 20 | Zawsze | W 1 chorobie |
| THOC2THO complex subunit 2 | Zawsze | W 1 chorobie |
| TRIP11thyroid hormone receptor interactor 11 | Zawsze | W 2 chorobach |
| ZFXzinc finger protein X-linked | Zawsze | W 1 chorobie |
| ADKadenosine kinase | Bardzo często (80–99%) | W 1 chorobie |
| AKT3AKT serine/threonine kinase 3 | Bardzo często (80–99%) | W 3 chorobach |
| ANTXR2ANTXR cell adhesion molecule 2 | Bardzo często (80–99%) | W 1 chorobie |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Bardzo często (80–99%) | W 1 chorobie |
| ASPAaspartoacylase | Bardzo często (80–99%) | W 3 chorobach |
| B4GALT7beta-1,4-galactosyltransferase 7 | Bardzo często (80–99%) | W 2 chorobach |
| CCND2cyclin D2 | Bardzo często (80–99%) | W 2 chorobach |
| CHD4chromodomain helicase DNA binding protein 4 | Bardzo często (80–99%) | W 1 chorobie |
| CLCN7Cl-/H+ antiporter 7 | Bardzo często (80–99%) | W 2 chorobach |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Bardzo często (80–99%) | W 1 chorobie |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Bardzo często (80–99%) | W 1 chorobie |
| DMPKDM1 protein kinase | Bardzo często (80–99%) | W 1 chorobie |
| DNMT3ADNA methyltransferase 3 alpha | Bardzo często (80–99%) | W 2 chorobach |
| FAM177A1family with sequence similarity 177 member A1 | Bardzo często (80–99%) | W 1 chorobie |
| FGFR2fibroblast growth factor receptor 2 | Bardzo często (80–99%) | W 1 chorobie |
| GLI3GLI family zinc finger 3 | Bardzo często (80–99%) | W 4 chorobach |
| GPC3glypican 3 | Bardzo często (80–99%) | W 2 chorobach |
| GPC4glypican 4 | Bardzo często (80–99%) | W 3 chorobach |
| GUSBglucuronidase beta | Bardzo często (80–99%) | W 1 chorobie |
| HRASHRas proto-oncogene, GTPase | Bardzo często (80–99%) | W 2 chorobach |
| IDSiduronate 2-sulfatase | Bardzo często (80–99%) | W 1 chorobie |
| INPPL1inositol polyphosphate phosphatase like 1 | Bardzo często (80–99%) | W 3 chorobach |
| KPTNkaptin, actin binding protein | Bardzo często (80–99%) | W 2 chorobach |
| LRP5LDL receptor related protein 5 | Bardzo często (80–99%) | W 1 chorobie |
| MACROH2A1macroH2A.1 histone | Bardzo często (80–99%) | W 1 chorobie |
| MED12mediator complex subunit 12 | Bardzo często (80–99%) | W 3 chorobach |
| MEGF8multiple EGF like domains 8 | Bardzo często (80–99%) | W 1 chorobie |
| NFIBnuclear factor I B | Bardzo często (80–99%) | W 1 chorobie |
| NSD1nuclear receptor binding SET domain protein 1 | Bardzo często (80–99%) | W 4 chorobach |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Bardzo często (80–99%) | W 3 chorobach |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Bardzo często (80–99%) | W 2 chorobach |
| PITX1paired like homeodomain 1 | Bardzo często (80–99%) | W 1 chorobie |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Bardzo często (80–99%) | W 2 chorobach |
| PTCH1patched 1 | Bardzo często (80–99%) | W 8 chorobach |
| PTDSS1phosphatidylserine synthase 1 | Bardzo często (80–99%) | W 1 chorobie |
| PTENphosphatase and tensin homolog | Bardzo często (80–99%) | W 7 chorobach |
| RAB23RAB23, member RAS oncogene family | Bardzo często (80–99%) | W 1 chorobie |
| RAB39BRAB39B, member RAS oncogene family | Bardzo często (80–99%) | W 3 chorobach |
| RNF135ring finger protein 135 | Bardzo często (80–99%) | W 1 chorobie |
| SEC24DSEC24 homolog D, COPII component | Bardzo często (80–99%) | W 1 chorobie |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Bardzo często (80–99%) | W 1 chorobie |
| SLC26A2solute carrier family 26 member 2 | Bardzo często (80–99%) | W 2 chorobach |
| SLC29A3solute carrier family 29 member 3 | Bardzo często (80–99%) | W 1 chorobie |
| SLC35D1solute carrier family 35 member D1 | Bardzo często (80–99%) | W 2 chorobach |
| SNX10sorting nexin 10 | Bardzo często (80–99%) | W 2 chorobach |
| SOSTsclerostin | Bardzo często (80–99%) | W 2 chorobach |
| SOX9SRY-box transcription factor 9 | Bardzo często (80–99%) | W 2 chorobach |
| SP7Sp7 transcription factor | Bardzo często (80–99%) | W 1 chorobie |
| STRADASTE20 related adaptor alpha | Bardzo często (80–99%) | W 2 chorobach |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Bardzo często (80–99%) | W 2 chorobach |
| SYN1synapsin I | Bardzo często (80–99%) | W 2 chorobach |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Bardzo często (80–99%) | W 3 chorobach |
| TMCO1transmembrane and coiled-coil domains 1 | Bardzo często (80–99%) | W 2 chorobach |
| TNFRSF11ATNF receptor superfamily member 11a | Bardzo często (80–99%) | W 2 chorobach |
| TNFRSF11BTNF receptor superfamily member 11b | Bardzo często (80–99%) | W 2 chorobach |
| TNFSF11TNF superfamily member 11 | Bardzo często (80–99%) | W 1 chorobie |
| TRIM37tripartite motif containing 37 | Bardzo często (80–99%) | W 1 chorobie |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Bardzo często (80–99%) | W 2 chorobach |
| ZBTB7Azinc finger and BTB domain containing 7A | Bardzo często (80–99%) | W 1 chorobie |
| ZDHHC9zDHHC palmitoyltransferase 9 | Bardzo często (80–99%) | W 1 chorobie |
| ZIC1Zic family zinc finger 1 | Bardzo często (80–99%) | W 1 chorobie |
| ZIC4Zic family zinc finger 4 | Bardzo często (80–99%) | W 1 chorobie |
| ABCC9ATP binding cassette subfamily C member 9 | Często (30–79%) | W 2 chorobach |
| ADGRL1adhesion G protein-coupled receptor L1 | Często (30–79%) | W 1 chorobie |
| AHDC1AT-hook DNA binding motif containing 1 | Często (30–79%) | W 1 chorobie |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Często (30–79%) | W 1 chorobie |
| AMER1APC membrane recruitment protein 1 | Często (30–79%) | W 2 chorobach |
| ARSBarylsulfatase B | Często (30–79%) | W 1 chorobie |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Często (30–79%) | W 1 chorobie |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Często (30–79%) | W 1 chorobie |
| BICD2BICD cargo adaptor 2 | Często (30–79%) | W 1 chorobie |
| BMP2bone morphogenetic protein 2 | Często (30–79%) | W 1 chorobie |
| BMPR1Abone morphogenetic protein receptor type 1A | Często (30–79%) | W 1 chorobie |
| BRWD3bromodomain and WD repeat domain containing 3 | Często (30–79%) | W 1 chorobie |
| CCDC22CCC complex scaffolding subunit CCDC22 | Często (30–79%) | W 1 chorobie |
| CCNKcyclin K | Często (30–79%) | W 1 chorobie |
| CDCA7cell division cycle associated 7 | Często (30–79%) | W 1 chorobie |
| CDH2cadherin 2 | Często (30–79%) | W 1 chorobie |
| CHD1chromodomain helicase DNA binding protein 1 | Często (30–79%) | W 2 chorobach |
| CHD3chromodomain helicase DNA binding protein 3 | Często (30–79%) | W 1 chorobie |
| CHD8chromodomain helicase DNA binding protein 8 | Często (30–79%) | W 1 chorobie |
| COL4A1collagen type IV alpha 1 chain | Często (30–79%) | W 1 chorobie |
| CRPPACDP-L-ribitol pyrophosphorylase A | Często (30–79%) | W 2 chorobach |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Często (30–79%) | W 1 chorobie |
| CTNNB1catenin beta 1 | Często (30–79%) | W 1 chorobie |
| CUL4Bcullin 4B | Często (30–79%) | W 1 chorobie |
| DAG1dystroglycan 1 | Często (30–79%) | W 2 chorobach |
| DNMT3BDNA methyltransferase 3 beta | Często (30–79%) | W 1 chorobie |
| DPH2diphthamide biosynthesis 2 | Często (30–79%) | W 1 chorobie |
| DPYDdihydropyrimidine dehydrogenase | Często (30–79%) | W 2 chorobach |
| DPYSL5dihydropyrimidinase like 5 | Często (30–79%) | W 1 chorobie |
| DVL3dishevelled segment polarity protein 3 | Często (30–79%) | W 2 chorobach |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Często (30–79%) | W 1 chorobie |
| DYNC2I1dynein 2 intermediate chain 1 | Często (30–79%) | W 2 chorobach |
| DYNC2I2dynein 2 intermediate chain 2 | Często (30–79%) | W 1 chorobie |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Często (30–79%) | W 1 chorobie |
| FGFR1fibroblast growth factor receptor 1 | Często (30–79%) | W 3 chorobach |
| FKRPfukutin related protein | Często (30–79%) | W 1 chorobie |
| FKTNfukutin | Często (30–79%) | W 1 chorobie |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Często (30–79%) | W 1 chorobie |
| FMR1fragile X messenger ribonucleoprotein 1 | Często (30–79%) | W 2 chorobach |
| FOXP1forkhead box P1 | Często (30–79%) | W 2 chorobach |
| FZD2frizzled class receptor 2 | Często (30–79%) | W 1 chorobie |
| GCDHglutaryl-CoA dehydrogenase | Często (30–79%) | W 1 chorobie |
| GNAI3G protein subunit alpha i3 | Często (30–79%) | W 2 chorobach |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Często (30–79%) | W 1 chorobie |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Często (30–79%) | W 1 chorobie |
| HELLShelicase, lymphoid specific | Często (30–79%) | W 1 chorobie |
| HEXBhexosaminidase subunit beta | Często (30–79%) | W 1 chorobie |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Często (30–79%) | W 1 chorobie |
| IFT43intraflagellar transport 43 | Często (30–79%) | W 1 chorobie |
| IFT80intraflagellar transport 80 | Często (30–79%) | W 1 chorobie |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Często (30–79%) | W 1 chorobie |
| KDM1Alysine demethylase 1A | Często (30–79%) | W 2 chorobach |
| KRASKRas proto-oncogene, GTPase | Często (30–79%) | W 5 chorobach |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Często (30–79%) | W 1 chorobie |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Często (30–79%) | W 1 chorobie |
| LBRlamin B receptor | Często (30–79%) | W 2 chorobach |
| LRP2LDL receptor related protein 2 | Często (30–79%) | W 2 chorobach |
| MAB21L2mab-21 like 2 | Często (30–79%) | W 1 chorobie |
| MAN1B1mannosidase alpha class 1B member 1 | Często (30–79%) | W 1 chorobie |
| MAN2C1mannosidase alpha class 2C member 1 | Często (30–79%) | W 1 chorobie |
| MAP2K1mitogen-activated protein kinase kinase 1 | Często (30–79%) | W 2 chorobach |
| MAP2K2mitogen-activated protein kinase kinase 2 | Często (30–79%) | W 2 chorobach |
| MAXMYC associated transcriptional regulator X | Często (30–79%) | W 1 chorobie |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Często (30–79%) | W 1 chorobie |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Często (30–79%) | W 1 chorobie |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Często (30–79%) | W 1 chorobie |
| NF1neurofibromin 1 | Często (30–79%) | W 3 chorobach |
| NKX2-5NK2 homeobox 5 | Często (30–79%) | W 1 chorobie |
| NLRP3NLR family pyrin domain containing 3 | Często (30–79%) | W 2 chorobach |
| NOTCH2notch receptor 2 | Często (30–79%) | W 1 chorobie |
| NRASNRAS proto-oncogene, GTPase | Często (30–79%) | W 1 chorobie |
| NXNnucleoredoxin | Często (30–79%) | W 1 chorobie |
| OFD1OFD1 centriole and centriolar satellite protein | Często (30–79%) | W 2 chorobach |
| OPHN1oligophrenin 1 | Często (30–79%) | W 1 chorobie |
| PCGF2polycomb group ring finger 2 | Często (30–79%) | W 1 chorobie |
| PEX1peroxisomal biogenesis factor 1 | Często (30–79%) | W 3 chorobach |
| PEX10peroxisomal biogenesis factor 10 | Często (30–79%) | W 2 chorobach |
| PEX11Bperoxisomal biogenesis factor 11 beta | Często (30–79%) | W 2 chorobach |
| PEX12peroxisomal biogenesis factor 12 | Często (30–79%) | W 2 chorobach |
| PEX13peroxisomal biogenesis factor 13 | Często (30–79%) | W 2 chorobach |
| PEX14peroxisomal biogenesis factor 14 | Często (30–79%) | W 2 chorobach |
| PEX16peroxisomal biogenesis factor 16 | Często (30–79%) | W 2 chorobach |
| PEX19peroxisomal biogenesis factor 19 | Często (30–79%) | W 2 chorobach |
| PEX2peroxisomal biogenesis factor 2 | Często (30–79%) | W 2 chorobach |
| PEX26peroxisomal biogenesis factor 26 | Często (30–79%) | W 2 chorobach |
| PEX3peroxisomal biogenesis factor 3 | Często (30–79%) | W 2 chorobach |
| PEX5peroxisomal biogenesis factor 5 | Często (30–79%) | W 2 chorobach |
| PEX6peroxisomal biogenesis factor 6 | Często (30–79%) | W 3 chorobach |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Często (30–79%) | W 1 chorobie |
| PKDCCprotein kinase domain containing, cytoplasmic | Często (30–79%) | W 1 chorobie |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Często (30–79%) | W 1 chorobie |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Często (30–79%) | W 1 chorobie |
| POMKprotein O-mannose kinase | Często (30–79%) | W 1 chorobie |
| POMT1protein O-mannosyltransferase 1 | Często (30–79%) | W 1 chorobie |
| POMT2protein O-mannosyltransferase 2 | Często (30–79%) | W 1 chorobie |
| PORcytochrome p450 oxidoreductase | Często (30–79%) | W 1 chorobie |
| PPFIA3PPFI scaffold protein A3 | Często (30–79%) | W 1 chorobie |
| PTCH2patched 2 | Często (30–79%) | W 1 chorobie |
| PTH1Rparathyroid hormone 1 receptor | Często (30–79%) | W 1 chorobie |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Często (30–79%) | W 1 chorobie |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Często (30–79%) | W 1 chorobie |
| ROBO3roundabout guidance receptor 3 | Często (30–79%) | W 1 chorobie |
| ROR2ROR family WNT receptor 2 | Często (30–79%) | W 2 chorobach |
| RXYLT1ribitol xylosyltransferase 1 | Często (30–79%) | W 1 chorobie |
| SH2B1SH2B adaptor protein 1 | Często (30–79%) | W 1 chorobie |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Często (30–79%) | W 1 chorobie |
| SHPKsedoheptulokinase | Często (30–79%) | W 1 chorobie |
| SIM1SIM bHLH transcription factor 1 | Często (30–79%) | W 1 chorobie |
| SIX2SIX homeobox 2 | Często (30–79%) | W 1 chorobie |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Często (30–79%) | W 1 chorobie |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Często (30–79%) | W 1 chorobie |
| SPTSSAserine palmitoyltransferase small subunit A | Często (30–79%) | W 1 chorobie |
| SUMF1sulfatase modifying factor 1 | Często (30–79%) | W 1 chorobie |
| TAOK1TAO kinase 1 | Często (30–79%) | W 1 chorobie |
| TBCKTBC1 domain containing kinase | Często (30–79%) | W 2 chorobach |
| TFE3transcription factor binding to IGHM enhancer 3 | Często (30–79%) | W 1 chorobie |
| TMEM53transmembrane protein 53 | Często (30–79%) | W 1 chorobie |
| TRIOtrio Rho guanine nucleotide exchange factor | Często (30–79%) | W 1 chorobie |
| UBE2Aubiquitin conjugating enzyme E2 A | Często (30–79%) | W 2 chorobach |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Często (30–79%) | W 1 chorobie |
| VPS35LVPS35 endosomal protein sorting factor like | Często (30–79%) | W 1 chorobie |
| WASHC5WASH complex subunit 5 | Często (30–79%) | W 1 chorobie |
| WDR35WD repeat domain 35 | Często (30–79%) | W 2 chorobach |
| WNT5AWnt family member 5A | Często (30–79%) | W 2 chorobach |
| ZBTB20zinc finger and BTB domain containing 20 | Często (30–79%) | W 1 chorobie |
| ZBTB24zinc finger and BTB domain containing 24 | Często (30–79%) | W 1 chorobie |
| ZBTB42zinc finger and BTB domain containing 42 | Często (30–79%) | W 1 chorobie |
| ACADMacyl-CoA dehydrogenase medium chain | Czasami (5–29%) | W 1 chorobie |
| AFF2ALF transcription elongation factor 2 | Czasami (5–29%) | W 1 chorobie |
| AGGF1angiogenic factor with G-patch and FHA domains 1 | Czasami (5–29%) | W 1 chorobie |
| AKT1AKT serine/threonine kinase 1 | Czasami (5–29%) | W 2 chorobach |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Czasami (5–29%) | W 1 chorobie |
| ANK3ankyrin 3 | Czasami (5–29%) | W 1 chorobie |
| ANKRD17ankyrin repeat domain 17 | Czasami (5–29%) | W 1 chorobie |
| B3GLCTbeta 3-glucosyltransferase | Czasami (5–29%) | W 1 chorobie |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Czasami (5–29%) | W 1 chorobie |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Czasami (5–29%) | W 1 chorobie |
| CAMTA1calmodulin binding transcription activator 1 | Czasami (5–29%) | W 2 chorobach |
| CC2D2Acoiled-coil and C2 domain containing 2A | Czasami (5–29%) | W 1 chorobie |
| CDC42BPBCDC42 binding protein kinase beta | Czasami (5–29%) | W 1 chorobie |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Czasami (5–29%) | W 1 chorobie |
| CDONcell adhesion associated, oncogene regulated | Czasami (5–29%) | W 4 chorobach |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Czasami (5–29%) | W 1 chorobie |
| CLCN3Cl-/H+ antiporter 3 | Czasami (5–29%) | W 1 chorobie |
| CLCN4Cl-/H+ antiporter 4 | Czasami (5–29%) | W 1 chorobie |
| CRELD1CRELD disulfide isomerase 1 | Czasami (5–29%) | W 1 chorobie |
| CRIPTOcripto, EGF-CFC family member | Czasami (5–29%) | W 4 chorobach |
| DEAF1DEAF1 transcription factor | Czasami (5–29%) | W 1 chorobie |
| DHCR2424-dehydrocholesterol reductase | Czasami (5–29%) | W 2 chorobach |
| DHRS3dehydrogenase/reductase 3 | Czasami (5–29%) | W 1 chorobie |
| DISP1dispatched RND transporter family member 1 | Czasami (5–29%) | W 4 chorobach |
| DLL1delta like canonical Notch ligand 1 | Czasami (5–29%) | W 5 chorobach |
| DLL3delta like canonical Notch ligand 3 | Czasami (5–29%) | W 1 chorobie |
| DOCK6dedicator of cytokinesis 6 | Czasami (5–29%) | W 1 chorobie |
| DPYSdihydropyrimidinase | Czasami (5–29%) | W 1 chorobie |
| EDN1endothelin 1 | Czasami (5–29%) | W 1 chorobie |
| ERFETS2 repressor factor | Czasami (5–29%) | W 1 chorobie |
| ERMARDER membrane associated RNA degradation | Czasami (5–29%) | W 1 chorobie |
| FAM149B1family with sequence similarity 149 member B1 | Czasami (5–29%) | W 1 chorobie |
| FAR1fatty acyl-CoA reductase 1 | Czasami (5–29%) | W 1 chorobie |
| FBXO11F-box protein 11 | Czasami (5–29%) | W 1 chorobie |
| FBXW7F-box and WD repeat domain containing 7 | Czasami (5–29%) | W 1 chorobie |
| FGF8fibroblast growth factor 8 | Czasami (5–29%) | W 4 chorobach |
| FIG4FIG4 phosphoinositide 5-phosphatase | Czasami (5–29%) | W 1 chorobie |
| FOXH1forkhead box H1 | Czasami (5–29%) | W 4 chorobach |
| FOXP2forkhead box P2 | Czasami (5–29%) | W 1 chorobie |
| GAD1glutamate decarboxylase 1 | Czasami (5–29%) | W 1 chorobie |
| GAS1growth arrest specific 1 | Czasami (5–29%) | W 4 chorobach |
| GLI2GLI family zinc finger 2 | Czasami (5–29%) | W 4 chorobach |
| GNAQG protein subunit alpha q | Czasami (5–29%) | W 2 chorobach |
| GNB1G protein subunit beta 1 | Czasami (5–29%) | W 1 chorobie |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Czasami (5–29%) | W 2 chorobach |
| H3-3AH3.3 histone A | Czasami (5–29%) | W 1 chorobie |
| H3-3BH3.3 histone B | Czasami (5–29%) | W 1 chorobie |
| HDAC4histone deacetylase 4 | Czasami (5–29%) | W 1 chorobie |
| HES7hes family bHLH transcription factor 7 | Czasami (5–29%) | W 1 chorobie |
| HOXD13homeobox D13 | Czasami (5–29%) | W 1 chorobie |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Czasami (5–29%) | W 1 chorobie |
| IHHIndian hedgehog signaling molecule | Czasami (5–29%) | W 1 chorobie |
| INPP5Einositol polyphosphate-5-phosphatase E | Czasami (5–29%) | W 2 chorobach |
| JARID2jumonji and AT-rich interaction domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Czasami (5–29%) | W 1 chorobie |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Czasami (5–29%) | W 1 chorobie |
| KDM5Clysine demethylase 5C | Czasami (5–29%) | W 2 chorobach |
| KICS2KICSTOR subunit 2 | Czasami (5–29%) | W 1 chorobie |
| KMT5Blysine methyltransferase 5B | Czasami (5–29%) | W 1 chorobie |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Czasami (5–29%) | W 1 chorobie |
| MAN2B1mannosidase alpha class 2B member 1 | Czasami (5–29%) | W 2 chorobach |
| MECP2methyl-CpG binding protein 2 | Czasami (5–29%) | W 1 chorobie |
| MESP2mesoderm posterior bHLH transcription factor 2 | Czasami (5–29%) | W 1 chorobie |
| MSL2MSL complex subunit 2 | Czasami (5–29%) | W 1 chorobie |
| MSX2msh homeobox 2 | Czasami (5–29%) | W 2 chorobach |
| MYH8myosin heavy chain 8 | Czasami (5–29%) | W 1 chorobie |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Czasami (5–29%) | W 1 chorobie |
| NODALnodal growth differentiation factor | Czasami (5–29%) | W 4 chorobach |
| NOTCH3notch receptor 3 | Czasami (5–29%) | W 1 chorobie |
| OTUD5OTU deubiquitinase 5 | Czasami (5–29%) | W 1 chorobie |
| PDGFRBplatelet derived growth factor receptor beta | Czasami (5–29%) | W 1 chorobie |
| PHF21APHD finger protein 21A | Czasami (5–29%) | W 1 chorobie |
| PHF6PHD finger protein 6 | Czasami (5–29%) | W 1 chorobie |
| PIBF1progesterone immunomodulatory binding factor 1 | Czasami (5–29%) | W 1 chorobie |
| PLCB4phospholipase C beta 4 | Czasami (5–29%) | W 2 chorobach |
| PLCH1phospholipase C eta 1 | Czasami (5–29%) | W 2 chorobach |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Czasami (5–29%) | W 1 chorobie |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| PTHLHparathyroid hormone like hormone | Czasami (5–29%) | W 1 chorobie |
| RAB34RAB34, member RAS oncogene family | Czasami (5–29%) | W 1 chorobie |
| RAC1Rac family small GTPase 1 | Czasami (5–29%) | W 2 chorobach |
| REREarginine-glutamic acid dipeptide repeats | Czasami (5–29%) | W 1 chorobie |
| RFX7regulatory factor X7 | Czasami (5–29%) | W 1 chorobie |
| RIPPLY2ripply transcriptional repressor 2 | Czasami (5–29%) | W 1 chorobie |
| RNU5B-1RNA, U5B small nuclear 1 | Czasami (5–29%) | W 1 chorobie |
| RPGRIP1LRPGRIP1 like | Czasami (5–29%) | W 1 chorobie |
| RUNX2RUNX family transcription factor 2 | Czasami (5–29%) | W 1 chorobie |
| SATB2SATB homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Czasami (5–29%) | W 1 chorobie |
| SHHsonic hedgehog signaling molecule | Czasami (5–29%) | W 4 chorobach |
| SIX3SIX homeobox 3 | Czasami (5–29%) | W 4 chorobach |
| SLC25A1solute carrier family 25 member 1 | Czasami (5–29%) | W 1 chorobie |
| SLC2A1solute carrier family 2 member 1 | Czasami (5–29%) | W 1 chorobie |
| SLC2A10solute carrier family 2 member 10 | Czasami (5–29%) | W 1 chorobie |
| SLC39A14solute carrier family 39 member 14 | Czasami (5–29%) | W 1 chorobie |
| SMAD4SMAD family member 4 | Czasami (5–29%) | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Czasami (5–29%) | W 1 chorobie |
| SMPD1sphingomyelin phosphodiesterase 1 | Czasami (5–29%) | W 1 chorobie |
| SPINT2serine peptidase inhibitor, Kunitz type 2 | Czasami (5–29%) | W 1 chorobie |
| SPRED1sprouty related EVH1 domain containing 1 | Czasami (5–29%) | W 2 chorobach |
| SPTBN1spectrin beta, non-erythrocytic 1 | Czasami (5–29%) | W 1 chorobie |
| SRCAPSnf2 related CREBBP activator protein | Czasami (5–29%) | W 1 chorobie |
| SRPK3SRSF protein kinase 3 | Czasami (5–29%) | W 1 chorobie |
| SRRM2serine/arginine repetitive matrix 2 | Czasami (5–29%) | W 1 chorobie |
| STAG2STAG2 cohesin complex component | Czasami (5–29%) | W 2 chorobach |
| STILSTIL centriolar assembly protein | Czasami (5–29%) | W 4 chorobach |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Czasami (5–29%) | W 1 chorobie |
| STX4syntaxin 4 | Czasami (5–29%) | W 1 chorobie |
| TBC1D32TBC1 domain family member 32 | Czasami (5–29%) | W 1 chorobie |
| TBX6T-box transcription factor 6 | Czasami (5–29%) | W 2 chorobach |
| TCP1t-complex 1 | Czasami (5–29%) | W 1 chorobie |
| TET3tet methylcytosine dioxygenase 3 | Czasami (5–29%) | W 1 chorobie |
| TGIF1TGFB induced factor homeobox 1 | Czasami (5–29%) | W 4 chorobach |
| TMEM67transmembrane protein 67 | Czasami (5–29%) | W 1 chorobie |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Czasami (5–29%) | W 1 chorobie |
| TRAF7TNF receptor associated factor 7 | Czasami (5–29%) | W 1 chorobie |
| TUBA1Atubulin alpha 1a | Czasami (5–29%) | W 1 chorobie |
| TUBB2Btubulin beta 2B class IIb | Czasami (5–29%) | W 1 chorobie |
| TUBB3tubulin beta 3 class III | Czasami (5–29%) | W 2 chorobach |
| UBE3Aubiquitin protein ligase E3A | Czasami (5–29%) | W 1 chorobie |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Czasami (5–29%) | W 1 chorobie |
| YME1L1YME1 like 1 ATPase | Czasami (5–29%) | W 1 chorobie |
| ZIC2Zic family zinc finger 2 | Czasami (5–29%) | W 4 chorobach |
| ZSWIM6zinc finger SWIM-type containing 6 | Czasami (5–29%) | W 1 chorobie |
| ACADVLacyl-CoA dehydrogenase very long chain | Rzadko (1–4%) | W 1 chorobie |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Rzadko (1–4%) | W 1 chorobie |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Rzadko (1–4%) | W 1 chorobie |
| COL2A1collagen type II alpha 1 chain | Rzadko (1–4%) | W 2 chorobach |
| MYT1Lmyelin transcription factor 1 like | Rzadko (1–4%) | W 1 chorobie |
| NALCNsodium leak channel, non-selective | Rzadko (1–4%) | W 1 chorobie |
| NEU1neuraminidase 1 | Rzadko (1–4%) | W 1 chorobie |
| POU4F1POU class 4 homeobox 1 | Rzadko (1–4%) | W 1 chorobie |
| ARL6ARF like GTPase 6 | Nie odnotowano | W 1 chorobie |
| BBS1Bardet-Biedl syndrome 1 | Nie odnotowano | W 1 chorobie |
| BLTP1bridge-like lipid transfer protein family member 1 | Nie odnotowano | W 1 chorobie |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Nie odnotowano | W 1 chorobie |
| CCDC28Bcoiled-coil domain containing 28B | Nie odnotowano | W 1 chorobie |
| CSF1Rcolony stimulating factor 1 receptor | Nie odnotowano | W 1 chorobie |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Nie odnotowano | W 1 chorobie |
| ETFAelectron transfer flavoprotein subunit alpha | Nie odnotowano | W 1 chorobie |
| ETFBelectron transfer flavoprotein subunit beta | Nie odnotowano | W 1 chorobie |
| ETFDHelectron transfer flavoprotein dehydrogenase | Nie odnotowano | W 1 chorobie |
| FAM111AFAM111 trypsin like peptidase A | Nie odnotowano | W 1 chorobie |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Nie odnotowano | W 1 chorobie |
| GJA1gap junction protein alpha 1 | Nie odnotowano | W 1 chorobie |
| H1-4H1.4 linker histone, cluster member | Nie odnotowano | W 1 chorobie |
| HDAC6histone deacetylase 6 | Nie odnotowano | W 1 chorobie |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Nie odnotowano | W 1 chorobie |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Nie odnotowano | W 1 chorobie |
| KLLNkillin, p53 regulated DNA replication inhibitor | Nie odnotowano | W 1 chorobie |
| KMT2Elysine methyltransferase 2E (inactive) | Nie odnotowano | W 1 chorobie |
| L1CAML1 cell adhesion molecule | Nie odnotowano | W 2 chorobach |
| LAMB1laminin subunit beta 1 | Nie odnotowano | W 1 chorobie |
| LRP4LDL receptor related protein 4 | Nie odnotowano | W 1 chorobie |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Nie odnotowano | W 1 chorobie |
| MOCS1molybdenum cofactor synthesis 1 | Nie odnotowano | W 1 chorobie |
| MOCS2molybdenum cofactor synthesis 2 | Nie odnotowano | W 1 chorobie |
| MTM1myotubularin 1 | Nie odnotowano | W 1 chorobie |
| MYMKmyomaker, myoblast fusion factor | Nie odnotowano | W 1 chorobie |
| NKX3-2NK3 homeobox 2 | Nie odnotowano | W 1 chorobie |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Nie odnotowano | W 1 chorobie |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Nie odnotowano | W 1 chorobie |
| POC1APOC1 centriolar protein A | Nie odnotowano | W 1 chorobie |
| POLR3ARNA polymerase III subunit A | Nie odnotowano | W 1 chorobie |
| SEC23ASEC23 homolog A, COPII component | Nie odnotowano | W 1 chorobie |
| SEC23BSEC23 homolog B, COPII component | Nie odnotowano | W 1 chorobie |
| SETD2SET domain containing 2, histone lysine methyltransferase | Nie odnotowano | W 1 chorobie |
| SMOsmoothened, frizzled class receptor | Nie odnotowano | W 1 chorobie |
| TBL1Xtransducin beta like 1 X-linked | Nie odnotowano | W 1 chorobie |
| TMEM216transmembrane protein 216 | Nie odnotowano | W 1 chorobie |
| TMEM94transmembrane protein 94 | Nie odnotowano | W 1 chorobie |
| ZNF469zinc finger protein 469 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
Jeden test. Odpowiedzi na całe życie.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni