Piirre
Frontal bossing
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Yhteenveto
- Tunnetaan myös nimellä
- Frontal protuberance, Skull bossing
- Elimistön järjestelmä
- Abnormality of head or neckAbnormality of the musculoskeletal system
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to Frontal bossing, and the rest of your genome, with one test.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test455 geeniä, jotka liittyvät piirteeseen Frontal bossing
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Frontal bossing esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ADKadenosine kinase | Aina | 1 sairaudessa |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Aina | 1 sairaudessa |
| ANKHANKH inorganic pyrophosphate transport regulator | Aina | 1 sairaudessa |
| ANTXR1ANTXR cell adhesion molecule 1 | Aina | 2 sairaudessa |
| ARID2AT-rich interaction domain 2 | Aina | 1 sairaudessa |
| AXIN1axin 1 | Aina | 1 sairaudessa |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Aina | 1 sairaudessa |
| CEP57centrosomal protein 57 | Aina | 2 sairaudessa |
| CILK1ciliogenesis associated kinase 1 | Aina | 1 sairaudessa |
| COL11A2collagen type XI alpha 2 chain | Aina | 1 sairaudessa |
| COL2A1collagen type II alpha 1 chain | Aina | 1 sairaudessa |
| COX4I1cytochrome c oxidase subunit 4I1 | Aina | 1 sairaudessa |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Aina | 1 sairaudessa |
| CUL7cullin 7 | Aina | 2 sairaudessa |
| DDX59DEAD-box helicase 59 | Aina | 2 sairaudessa |
| DICER1dicer 1, ribonuclease III | Aina | 1 sairaudessa |
| DNA2DNA replication helicase/nuclease 2 | Aina | 1 sairaudessa |
| DSEdermatan sulfate epimerase | Aina | 1 sairaudessa |
| DVL1dishevelled segment polarity protein 1 | Aina | 3 sairaudessa |
| ERI1exoribonuclease 1 | Aina | 1 sairaudessa |
| EXTL3exostosin like glycosyltransferase 3 | Aina | 2 sairaudessa |
| FBXL4F-box and leucine rich repeat protein 4 | Aina | 1 sairaudessa |
| FGFR2fibroblast growth factor receptor 2 | Aina | 6 sairaudessa |
| FGFR3fibroblast growth factor receptor 3 | Aina | 9 sairaudessa |
| GMNNgeminin DNA replication inhibitor | Aina | 1 sairaudessa |
| GNB2G protein subunit beta 2 | Aina | 1 sairaudessa |
| GNSglucosamine (N-acetyl)-6-sulfatase | Aina | 1 sairaudessa |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Aina | 1 sairaudessa |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Aina | 1 sairaudessa |
| IDUAalpha-L-iduronidase | Aina | 2 sairaudessa |
| IFT140intraflagellar transport 140 | Aina | 2 sairaudessa |
| IFT56intraflagellar transport 56 | Aina | 1 sairaudessa |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Aina | 1 sairaudessa |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Aina | 1 sairaudessa |
| ITCHitchy E3 ubiquitin protein ligase | Aina | 2 sairaudessa |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Aina | 1 sairaudessa |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Aina | 1 sairaudessa |
| JAG1jagged canonical Notch ligand 1 | Aina | 1 sairaudessa |
| KDM6Blysine demethylase 6B | Aina | 1 sairaudessa |
| KIF7kinesin family member 7 | Aina | 4 sairaudessa |
Näytä 415 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| KLF1KLF transcription factor 1 | Aina | 1 sairaudessa |
| KPTNkaptin, actin binding protein | Aina | 2 sairaudessa |
| LBRlamin B receptor | Aina | 2 sairaudessa |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Aina | 1 sairaudessa |
| NSD1nuclear receptor binding SET domain protein 1 | Aina | 1 sairaudessa |
| OBSL1obscurin like cytoskeletal adaptor 1 | Aina | 2 sairaudessa |
| PAK1p21 (RAC1) activated kinase 1 | Aina | 1 sairaudessa |
| PHEXphosphate regulating endopeptidase X-linked | Aina | 2 sairaudessa |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Aina | 1 sairaudessa |
| PTCH1patched 1 | Aina | 3 sairaudessa |
| RNPC3RNA binding region (RNP1, RRM) containing 3 | Aina | 1 sairaudessa |
| RNU2-2RNA, U2 small nuclear 2 | Aina | 1 sairaudessa |
| RNU5B-1RNA, U5B small nuclear 1 | Aina | 1 sairaudessa |
| RSPRY1ring finger and SPRY domain containing 1 | Aina | 2 sairaudessa |
| RUNX2RUNX family transcription factor 2 | Aina | 2 sairaudessa |
| SEC23ASEC23 homolog A, COPII component | Aina | 2 sairaudessa |
| SEC24DSEC24 homolog D, COPII component | Aina | 2 sairaudessa |
| SIK3SIK family kinase 3 | Aina | 1 sairaudessa |
| SOSTsclerostin | Aina | 2 sairaudessa |
| SPOUT1SPOUT domain containing methyltransferase 1 | Aina | 1 sairaudessa |
| SUFUSUFU negative regulator of hedgehog signaling | Aina | 3 sairaudessa |
| TBX15T-box transcription factor 15 | Aina | 2 sairaudessa |
| TIMM50translocase of inner mitochondrial membrane 50 | Aina | 1 sairaudessa |
| VDRvitamin D receptor | Aina | 2 sairaudessa |
| WDR35WD repeat domain 35 | Aina | 3 sairaudessa |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Aina | 1 sairaudessa |
| AIPAHR interacting HSP90 co-chaperone | Hyvin usein (80–99%) | 2 sairaudessa |
| APCAPC regulator of Wnt signaling pathway | Hyvin usein (80–99%) | 1 sairaudessa |
| B3GALT6beta-1,3-galactosyltransferase 6 | Hyvin usein (80–99%) | 2 sairaudessa |
| CAMKMTcalmodulin-lysine N-methyltransferase | Hyvin usein (80–99%) | 1 sairaudessa |
| CCDC22CCC complex scaffolding subunit CCDC22 | Hyvin usein (80–99%) | 1 sairaudessa |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Hyvin usein (80–99%) | 2 sairaudessa |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Hyvin usein (80–99%) | 2 sairaudessa |
| CHD3chromodomain helicase DNA binding protein 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| CHD6chromodomain helicase DNA binding protein 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| CLCN7Cl-/H+ antiporter 7 | Hyvin usein (80–99%) | 1 sairaudessa |
| COG4component of oligomeric golgi complex 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| CPLX1complexin 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CRTAPcartilage associated protein | Hyvin usein (80–99%) | 1 sairaudessa |
| CTBP1C-terminal binding protein 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| CTSKcathepsin K | Hyvin usein (80–99%) | 2 sairaudessa |
| CWC27CWC27 spliceosome associated cyclophilin | Hyvin usein (80–99%) | 2 sairaudessa |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| DPYSL5dihydropyrimidinase like 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| EFNB1ephrin B1 | Hyvin usein (80–99%) | 2 sairaudessa |
| GPC6glypican 6 | Hyvin usein (80–99%) | 2 sairaudessa |
| HDAC6histone deacetylase 6 | Hyvin usein (80–99%) | 2 sairaudessa |
| HRASHRas proto-oncogene, GTPase | Hyvin usein (80–99%) | 1 sairaudessa |
| IFT122intraflagellar transport 122 | Hyvin usein (80–99%) | 2 sairaudessa |
| IFT43intraflagellar transport 43 | Hyvin usein (80–99%) | 2 sairaudessa |
| IFT52intraflagellar transport 52 | Hyvin usein (80–99%) | 1 sairaudessa |
| INPPL1inositol polyphosphate phosphatase like 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| KRASKRas proto-oncogene, GTPase | Hyvin usein (80–99%) | 3 sairaudessa |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| LRP4LDL receptor related protein 4 | Hyvin usein (80–99%) | 2 sairaudessa |
| MEN1menin 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NELFAnegative elongation factor complex member A | Hyvin usein (80–99%) | 1 sairaudessa |
| NLRP3NLR family pyrin domain containing 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| NRASNRAS proto-oncogene, GTPase | Hyvin usein (80–99%) | 1 sairaudessa |
| NSD2nuclear receptor binding SET domain protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| OFD1OFD1 centriole and centriolar satellite protein | Hyvin usein (80–99%) | 4 sairaudessa |
| P4HBprolyl 4-hydroxylase subunit beta | Hyvin usein (80–99%) | 2 sairaudessa |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| PCGF2polycomb group ring finger 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Hyvin usein (80–99%) | 1 sairaudessa |
| POLEDNA polymerase epsilon, catalytic subunit | Hyvin usein (80–99%) | 2 sairaudessa |
| POLR3ARNA polymerase III subunit A | Hyvin usein (80–99%) | 2 sairaudessa |
| PPM1Bprotein phosphatase, Mg2+/Mn2+ dependent 1B | Hyvin usein (80–99%) | 1 sairaudessa |
| PREPLprolyl endopeptidase like | Hyvin usein (80–99%) | 2 sairaudessa |
| RAB39BRAB39B, member RAS oncogene family | Hyvin usein (80–99%) | 2 sairaudessa |
| RAI1retinoic acid induced 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RECQL4RecQ like helicase 4 | Hyvin usein (80–99%) | 2 sairaudessa |
| RNU12RNA, U12 small nuclear | Hyvin usein (80–99%) | 2 sairaudessa |
| RPS6KA3ribosomal protein S6 kinase A3 | Hyvin usein (80–99%) | 3 sairaudessa |
| SETBP1SET binding protein 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| SIX2SIX homeobox 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC26A2solute carrier family 26 member 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC3A1solute carrier family 3 member 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| SMOC1SPARC related modular calcium binding 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| SP7Sp7 transcription factor | Hyvin usein (80–99%) | 1 sairaudessa |
| TBC1D7TBC1 domain family member 7 | Hyvin usein (80–99%) | 1 sairaudessa |
| TRIM37tripartite motif containing 37 | Hyvin usein (80–99%) | 1 sairaudessa |
| TRIP11thyroid hormone receptor interactor 11 | Hyvin usein (80–99%) | 2 sairaudessa |
| TRPS1transcriptional repressor GATA binding 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| VPS35LVPS35 endosomal protein sorting factor like | Hyvin usein (80–99%) | 1 sairaudessa |
| WASHC5WASH complex subunit 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| WDR19WD repeat domain 19 | Hyvin usein (80–99%) | 2 sairaudessa |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Hyvin usein (80–99%) | 1 sairaudessa |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Usein (30–79%) | 1 sairaudessa |
| AGO2argonaute RISC catalytic component 2 | Usein (30–79%) | 1 sairaudessa |
| ALX4ALX homeobox 4 | Usein (30–79%) | 2 sairaudessa |
| AMER1APC membrane recruitment protein 1 | Usein (30–79%) | 2 sairaudessa |
| ANKRD11ankyrin repeat domain 11 | Usein (30–79%) | 1 sairaudessa |
| ARID1BAT-rich interaction domain 1B | Usein (30–79%) | 1 sairaudessa |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Usein (30–79%) | 1 sairaudessa |
| B3GLCTbeta 3-glucosyltransferase | Usein (30–79%) | 2 sairaudessa |
| B9D1B9 domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| BGNbiglycan | Usein (30–79%) | 1 sairaudessa |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Usein (30–79%) | 1 sairaudessa |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Usein (30–79%) | 1 sairaudessa |
| CDH2cadherin 2 | Usein (30–79%) | 1 sairaudessa |
| CHD1chromodomain helicase DNA binding protein 1 | Usein (30–79%) | 2 sairaudessa |
| CHST3carbohydrate sulfotransferase 3 | Usein (30–79%) | 1 sairaudessa |
| CKAP2Lcytoskeleton associated protein 2L | Usein (30–79%) | 1 sairaudessa |
| COL11A1collagen type XI alpha 1 chain | Usein (30–79%) | 3 sairaudessa |
| COL1A1collagen type I alpha 1 chain | Usein (30–79%) | 2 sairaudessa |
| COL1A2collagen type I alpha 2 chain | Usein (30–79%) | 2 sairaudessa |
| COX5Acytochrome c oxidase subunit 5A | Usein (30–79%) | 1 sairaudessa |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Usein (30–79%) | 1 sairaudessa |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| CSPP1centrosome and spindle pole associated protein 1 | Usein (30–79%) | 1 sairaudessa |
| CTNNB1catenin beta 1 | Usein (30–79%) | 1 sairaudessa |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Usein (30–79%) | 2 sairaudessa |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Usein (30–79%) | 2 sairaudessa |
| DLX3distal-less homeobox 3 | Usein (30–79%) | 2 sairaudessa |
| DLX5distal-less homeobox 5 | Usein (30–79%) | 1 sairaudessa |
| DVL3dishevelled segment polarity protein 3 | Usein (30–79%) | 2 sairaudessa |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Usein (30–79%) | 1 sairaudessa |
| DYNC2I1dynein 2 intermediate chain 1 | Usein (30–79%) | 1 sairaudessa |
| DYNC2I2dynein 2 intermediate chain 2 | Usein (30–79%) | 1 sairaudessa |
| EBPEBP cholestenol delta-isomerase | Usein (30–79%) | 2 sairaudessa |
| EDAectodysplasin A | Usein (30–79%) | 2 sairaudessa |
| EDA2Rectodysplasin A2 receptor | Usein (30–79%) | 1 sairaudessa |
| EMC10ER membrane protein complex subunit 10 | Usein (30–79%) | 1 sairaudessa |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Usein (30–79%) | 1 sairaudessa |
| FAM149B1family with sequence similarity 149 member B1 | Usein (30–79%) | 1 sairaudessa |
| FAM177A1family with sequence similarity 177 member A1 | Usein (30–79%) | 1 sairaudessa |
| FBN1fibrillin 1 | Usein (30–79%) | 1 sairaudessa |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| FGFR1fibroblast growth factor receptor 1 | Usein (30–79%) | 1 sairaudessa |
| FHfumarate hydratase | Usein (30–79%) | 2 sairaudessa |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Usein (30–79%) | 1 sairaudessa |
| FLNAfilamin A | Usein (30–79%) | 3 sairaudessa |
| FMR1fragile X messenger ribonucleoprotein 1 | Usein (30–79%) | 1 sairaudessa |
| FZD2frizzled class receptor 2 | Usein (30–79%) | 3 sairaudessa |
| GLI3GLI family zinc finger 3 | Usein (30–79%) | 2 sairaudessa |
| GPR101G protein-coupled receptor 101 | Usein (30–79%) | 1 sairaudessa |
| HDAC4histone deacetylase 4 | Usein (30–79%) | 1 sairaudessa |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Usein (30–79%) | 1 sairaudessa |
| HYAL2hyaluronidase 2 | Usein (30–79%) | 1 sairaudessa |
| IFT80intraflagellar transport 80 | Usein (30–79%) | 1 sairaudessa |
| IGF2insulin like growth factor 2 | Usein (30–79%) | 3 sairaudessa |
| IL11RAinterleukin 11 receptor subunit alpha | Usein (30–79%) | 1 sairaudessa |
| INTS1integrator complex subunit 1 | Usein (30–79%) | 1 sairaudessa |
| IPO8importin 8 | Usein (30–79%) | 1 sairaudessa |
| KAT6Alysine acetyltransferase 6A | Usein (30–79%) | 1 sairaudessa |
| KIAA0586KIAA0586 | Usein (30–79%) | 1 sairaudessa |
| KIAA0753KIAA0753 | Usein (30–79%) | 3 sairaudessa |
| KIDINS220kinase D interacting substrate 220 | Usein (30–79%) | 1 sairaudessa |
| KYNUkynureninase | Usein (30–79%) | 1 sairaudessa |
| LIFRLIF receptor subunit alpha | Usein (30–79%) | 1 sairaudessa |
| LRRC7leucine rich repeat containing 7 | Usein (30–79%) | 1 sairaudessa |
| MAP2K1mitogen-activated protein kinase kinase 1 | Usein (30–79%) | 1 sairaudessa |
| MAP2K2mitogen-activated protein kinase kinase 2 | Usein (30–79%) | 1 sairaudessa |
| MITFmelanocyte inducing transcription factor | Usein (30–79%) | 1 sairaudessa |
| MTORmechanistic target of rapamycin kinase | Usein (30–79%) | 2 sairaudessa |
| NCAPG2non-SMC condensin II complex subunit G2 | Usein (30–79%) | 1 sairaudessa |
| NEU1neuraminidase 1 | Usein (30–79%) | 1 sairaudessa |
| NFIAnuclear factor I A | Usein (30–79%) | 1 sairaudessa |
| NFIXnuclear factor I X | Usein (30–79%) | 2 sairaudessa |
| NONOnon-POU domain containing octamer binding | Usein (30–79%) | 2 sairaudessa |
| NPR2natriuretic peptide receptor 2 | Usein (30–79%) | 2 sairaudessa |
| NXNnucleoredoxin | Usein (30–79%) | 2 sairaudessa |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Usein (30–79%) | 1 sairaudessa |
| OSGEPO-sialoglycoprotein endopeptidase | Usein (30–79%) | 1 sairaudessa |
| PDE4Dphosphodiesterase 4D | Usein (30–79%) | 2 sairaudessa |
| PDE6Dphosphodiesterase 6D | Usein (30–79%) | 1 sairaudessa |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Usein (30–79%) | 1 sairaudessa |
| POLD3DNA polymerase delta 3, accessory subunit | Usein (30–79%) | 1 sairaudessa |
| POLR1BRNA polymerase I subunit B | Usein (30–79%) | 1 sairaudessa |
| POLR1CRNA polymerase I and III subunit C | Usein (30–79%) | 1 sairaudessa |
| POLR1DRNA polymerase I and III subunit D | Usein (30–79%) | 1 sairaudessa |
| PRIM1DNA primase subunit 1 | Usein (30–79%) | 1 sairaudessa |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Usein (30–79%) | 1 sairaudessa |
| PRKD1protein kinase D1 | Usein (30–79%) | 1 sairaudessa |
| ROR2ROR family WNT receptor 2 | Usein (30–79%) | 2 sairaudessa |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Usein (30–79%) | 2 sairaudessa |
| SKISKI proto-oncogene | Usein (30–79%) | 3 sairaudessa |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Usein (30–79%) | 1 sairaudessa |
| SNX14sorting nexin 14 | Usein (30–79%) | 1 sairaudessa |
| SOX5SRY-box transcription factor 5 | Usein (30–79%) | 2 sairaudessa |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Usein (30–79%) | 1 sairaudessa |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Usein (30–79%) | 1 sairaudessa |
| TBX4T-box transcription factor 4 | Usein (30–79%) | 1 sairaudessa |
| TCOF1treacle ribosome biogenesis factor 1 | Usein (30–79%) | 1 sairaudessa |
| TCTN3tectonic family member 3 | Usein (30–79%) | 1 sairaudessa |
| TMEM216transmembrane protein 216 | Usein (30–79%) | 2 sairaudessa |
| TMEM231transmembrane protein 231 | Usein (30–79%) | 1 sairaudessa |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Usein (30–79%) | 1 sairaudessa |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Usein (30–79%) | 1 sairaudessa |
| TRIOtrio Rho guanine nucleotide exchange factor | Usein (30–79%) | 1 sairaudessa |
| TWIST1twist family bHLH transcription factor 1 | Usein (30–79%) | 2 sairaudessa |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Usein (30–79%) | 1 sairaudessa |
| WNT5AWnt family member 5A | Usein (30–79%) | 2 sairaudessa |
| ZIC1Zic family zinc finger 1 | Usein (30–79%) | 1 sairaudessa |
| ZIC4Zic family zinc finger 4 | Usein (30–79%) | 1 sairaudessa |
| ZNF148zinc finger protein 148 | Usein (30–79%) | 1 sairaudessa |
| ACP5acid phosphatase 5, tartrate resistant | Joskus (5–29%) | 1 sairaudessa |
| AHDC1AT-hook DNA binding motif containing 1 | Joskus (5–29%) | 1 sairaudessa |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Joskus (5–29%) | 2 sairaudessa |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Joskus (5–29%) | 1 sairaudessa |
| ATAD3AATPase family AAA domain containing 3A | Joskus (5–29%) | 1 sairaudessa |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Joskus (5–29%) | 1 sairaudessa |
| BAP1BRCA1 associated deubiquitinase 1 | Joskus (5–29%) | 1 sairaudessa |
| BMPR1Abone morphogenetic protein receptor type 1A | Joskus (5–29%) | 1 sairaudessa |
| BRCA1BRCA1 DNA repair associated | Joskus (5–29%) | 1 sairaudessa |
| BRCA2BRCA2 DNA repair associated | Joskus (5–29%) | 1 sairaudessa |
| BRIP1BRCA1 interacting DNA helicase 1 | Joskus (5–29%) | 1 sairaudessa |
| BRWD3bromodomain and WD repeat domain containing 3 | Joskus (5–29%) | 1 sairaudessa |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Joskus (5–29%) | 1 sairaudessa |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Joskus (5–29%) | 1 sairaudessa |
| BUB3BUB3 mitotic checkpoint protein | Joskus (5–29%) | 1 sairaudessa |
| CASZ1castor zinc finger 1 | Joskus (5–29%) | 1 sairaudessa |
| CDC42BPBCDC42 binding protein kinase beta | Joskus (5–29%) | 1 sairaudessa |
| CHD5chromodomain helicase DNA binding protein 5 | Joskus (5–29%) | 1 sairaudessa |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Joskus (5–29%) | 1 sairaudessa |
| CLCN3Cl-/H+ antiporter 3 | Joskus (5–29%) | 1 sairaudessa |
| CNTNAP2contactin associated protein 2 | Joskus (5–29%) | 1 sairaudessa |
| COL9A2collagen type IX alpha 2 chain | Joskus (5–29%) | 1 sairaudessa |
| CUX1cut like homeobox 1 | Joskus (5–29%) | 1 sairaudessa |
| DDX6DEAD-box helicase 6 | Joskus (5–29%) | 1 sairaudessa |
| DEAF1DEAF1 transcription factor | Joskus (5–29%) | 1 sairaudessa |
| DHCR2424-dehydrocholesterol reductase | Joskus (5–29%) | 2 sairaudessa |
| DLK1delta like non-canonical Notch ligand 1 | Joskus (5–29%) | 1 sairaudessa |
| EIF5Aeukaryotic translation initiation factor 5A | Joskus (5–29%) | 1 sairaudessa |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| FAAP100FA core complex associated protein 100 | Joskus (5–29%) | 1 sairaudessa |
| FANCAFA complementation group A | Joskus (5–29%) | 1 sairaudessa |
| FANCBFA complementation group B | Joskus (5–29%) | 1 sairaudessa |
| FANCCFA complementation group C | Joskus (5–29%) | 1 sairaudessa |
| FANCD2FA complementation group D2 | Joskus (5–29%) | 1 sairaudessa |
| FANCEFA complementation group E | Joskus (5–29%) | 1 sairaudessa |
| FANCFFA complementation group F | Joskus (5–29%) | 1 sairaudessa |
| FANCGFA complementation group G | Joskus (5–29%) | 1 sairaudessa |
| FANCIFA complementation group I | Joskus (5–29%) | 1 sairaudessa |
| FANCLFA complementation group L | Joskus (5–29%) | 1 sairaudessa |
| FANCMFA complementation group M | Joskus (5–29%) | 1 sairaudessa |
| FBXO11F-box protein 11 | Joskus (5–29%) | 1 sairaudessa |
| FLNBfilamin B | Joskus (5–29%) | 5 sairaudessa |
| FRYLFRY like transcription coactivator | Joskus (5–29%) | 1 sairaudessa |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Joskus (5–29%) | 1 sairaudessa |
| GATAD2BGATA zinc finger domain containing 2B | Joskus (5–29%) | 1 sairaudessa |
| GLB1galactosidase beta 1 | Joskus (5–29%) | 2 sairaudessa |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| GRB10growth factor receptor bound protein 10 | Joskus (5–29%) | 1 sairaudessa |
| H3-3BH3.3 histone B | Joskus (5–29%) | 1 sairaudessa |
| HBA1hemoglobin subunit alpha 1 | Joskus (5–29%) | 1 sairaudessa |
| HBA2hemoglobin subunit alpha 2 | Joskus (5–29%) | 1 sairaudessa |
| HBBhemoglobin subunit beta | Joskus (5–29%) | 2 sairaudessa |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Joskus (5–29%) | 1 sairaudessa |
| HK1hexokinase 1 | Joskus (5–29%) | 1 sairaudessa |
| HMGA2high mobility group AT-hook 2 | Joskus (5–29%) | 2 sairaudessa |
| HMOX1heme oxygenase 1 | Joskus (5–29%) | 1 sairaudessa |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Joskus (5–29%) | 1 sairaudessa |
| HOXD13homeobox D13 | Joskus (5–29%) | 1 sairaudessa |
| HSPG2heparan sulfate proteoglycan 2 | Joskus (5–29%) | 1 sairaudessa |
| JARID2jumonji and AT-rich interaction domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| KCTD1potassium channel tetramerization domain containing 1 | Joskus (5–29%) | 1 sairaudessa |
| KDM5Alysine demethylase 5A | Joskus (5–29%) | 1 sairaudessa |
| KMT2Blysine methyltransferase 2B | Joskus (5–29%) | 1 sairaudessa |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Joskus (5–29%) | 1 sairaudessa |
| LARS1leucyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| LEMD3LEM domain containing 3 | Joskus (5–29%) | 1 sairaudessa |
| LRP5LDL receptor related protein 5 | Joskus (5–29%) | 1 sairaudessa |
| LUZP1leucine zipper protein 1 | Joskus (5–29%) | 1 sairaudessa |
| MAD2L2mitotic arrest deficient 2 like 2 | Joskus (5–29%) | 1 sairaudessa |
| MADDMAP kinase activating death domain | Joskus (5–29%) | 1 sairaudessa |
| MAN1B1mannosidase alpha class 1B member 1 | Joskus (5–29%) | 1 sairaudessa |
| MAU2MAU2 sister chromatid cohesion factor | Joskus (5–29%) | 1 sairaudessa |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Joskus (5–29%) | 1 sairaudessa |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Joskus (5–29%) | 1 sairaudessa |
| MED16mediator complex subunit 16 | Joskus (5–29%) | 1 sairaudessa |
| MED27mediator complex subunit 27 | Joskus (5–29%) | 1 sairaudessa |
| MEG3maternally expressed 3 | Joskus (5–29%) | 1 sairaudessa |
| MEGF8multiple EGF like domains 8 | Joskus (5–29%) | 1 sairaudessa |
| MMP23Bmatrix metallopeptidase 23B | Joskus (5–29%) | 1 sairaudessa |
| MSL2MSL complex subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| MTX2metaxin 2 | Joskus (5–29%) | 1 sairaudessa |
| MYH3myosin heavy chain 3 | Joskus (5–29%) | 1 sairaudessa |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| NKX6-2NK6 homeobox 2 | Joskus (5–29%) | 1 sairaudessa |
| NTNG2netrin G2 | Joskus (5–29%) | 1 sairaudessa |
| PALB2partner and localizer of BRCA2 | Joskus (5–29%) | 1 sairaudessa |
| PDGFRBplatelet derived growth factor receptor beta | Joskus (5–29%) | 1 sairaudessa |
| PDPNpodoplanin | Joskus (5–29%) | 1 sairaudessa |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Joskus (5–29%) | 1 sairaudessa |
| PLAG1PLAG1 zinc finger | Joskus (5–29%) | 1 sairaudessa |
| PLCH1phospholipase C eta 1 | Joskus (5–29%) | 1 sairaudessa |
| PNPLA6patatin like domain 6, lysophospholipase | Joskus (5–29%) | 1 sairaudessa |
| PORcytochrome p450 oxidoreductase | Joskus (5–29%) | 3 sairaudessa |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Joskus (5–29%) | 1 sairaudessa |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| PRDM16PR/SET domain 16 | Joskus (5–29%) | 1 sairaudessa |
| PRDM5PR/SET domain 5 | Joskus (5–29%) | 1 sairaudessa |
| PRKCZprotein kinase C zeta | Joskus (5–29%) | 1 sairaudessa |
| PTBP1polypyrimidine tract binding protein 1 | Joskus (5–29%) | 1 sairaudessa |
| PTCH2patched 2 | Joskus (5–29%) | 1 sairaudessa |
| PTENphosphatase and tensin homolog | Joskus (5–29%) | 4 sairaudessa |
| PTHLHparathyroid hormone like hormone | Joskus (5–29%) | 1 sairaudessa |
| PURApurine rich element binding protein A | Joskus (5–29%) | 1 sairaudessa |
| RAD51RAD51 recombinase | Joskus (5–29%) | 1 sairaudessa |
| RAD51CRAD51 paralog C | Joskus (5–29%) | 1 sairaudessa |
| REREarginine-glutamic acid dipeptide repeats | Joskus (5–29%) | 3 sairaudessa |
| RFWD3ring finger and WD repeat domain 3 | Joskus (5–29%) | 1 sairaudessa |
| RFX7regulatory factor X7 | Joskus (5–29%) | 1 sairaudessa |
| RTL1retrotransposon Gag like 1 | Joskus (5–29%) | 1 sairaudessa |
| SALL4spalt like transcription factor 4 | Joskus (5–29%) | 1 sairaudessa |
| SATB2SATB homeobox 2 | Joskus (5–29%) | 2 sairaudessa |
| SCNM1sodium channel modifier 1 | Joskus (5–29%) | 1 sairaudessa |
| SIN3ASIN3 transcription regulator family member A | Joskus (5–29%) | 1 sairaudessa |
| SLX4SLX4 structure-specific endonuclease subunit | Joskus (5–29%) | 1 sairaudessa |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Joskus (5–29%) | 1 sairaudessa |
| SMC3structural maintenance of chromosomes 3 | Joskus (5–29%) | 1 sairaudessa |
| SMC5structural maintenance of chromosomes 5 | Joskus (5–29%) | 1 sairaudessa |
| SMG8SMG8 nonsense mediated mRNA decay factor | Joskus (5–29%) | 1 sairaudessa |
| SONSON DNA and RNA binding protein | Joskus (5–29%) | 2 sairaudessa |
| SOX9SRY-box transcription factor 9 | Joskus (5–29%) | 1 sairaudessa |
| SPENspen family transcriptional repressor | Joskus (5–29%) | 2 sairaudessa |
| SPOPspeckle type BTB/POZ protein | Joskus (5–29%) | 1 sairaudessa |
| TBC1D24TBC1 domain family member 24 | Joskus (5–29%) | 1 sairaudessa |
| TBCBtubulin folding cofactor B | Joskus (5–29%) | 1 sairaudessa |
| TBCDtubulin folding cofactor D | Joskus (5–29%) | 1 sairaudessa |
| TGFB1transforming growth factor beta 1 | Joskus (5–29%) | 1 sairaudessa |
| TONSLtonsoku like, DNA repair protein | Joskus (5–29%) | 2 sairaudessa |
| TRIP13thyroid hormone receptor interactor 13 | Joskus (5–29%) | 1 sairaudessa |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Joskus (5–29%) | 1 sairaudessa |
| UBE2Tubiquitin conjugating enzyme E2 T | Joskus (5–29%) | 1 sairaudessa |
| UBE4Bubiquitination factor E4B | Joskus (5–29%) | 1 sairaudessa |
| UGP2UDP-glucose pyrophosphorylase 2 | Joskus (5–29%) | 1 sairaudessa |
| WDR83OSWD repeat domain 83 opposite strand | Joskus (5–29%) | 1 sairaudessa |
| WWOXWW domain containing oxidoreductase | Joskus (5–29%) | 1 sairaudessa |
| XRCC2X-ray repair cross complementing 2 | Joskus (5–29%) | 1 sairaudessa |
| ZEB2zinc finger E-box binding homeobox 2 | Joskus (5–29%) | 1 sairaudessa |
| ZFXzinc finger protein X-linked | Joskus (5–29%) | 1 sairaudessa |
| ZNF469zinc finger protein 469 | Joskus (5–29%) | 1 sairaudessa |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Joskus (5–29%) | 1 sairaudessa |
| EBF3EBF transcription factor 3 | Harvinainen (1–4 %) | 1 sairaudessa |
| EPB41erythrocyte membrane protein band 4.1 | Harvinainen (1–4 %) | 1 sairaudessa |
| GYPCglycophorin C (Gerbich blood group) | Harvinainen (1–4 %) | 1 sairaudessa |
| H3-3AH3.3 histone A | Harvinainen (1–4 %) | 1 sairaudessa |
| HEPACAMhepatic and glial cell adhesion molecule | Harvinainen (1–4 %) | 1 sairaudessa |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Harvinainen (1–4 %) | 1 sairaudessa |
| SPTA1spectrin alpha, erythrocytic 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SPTBspectrin beta, erythrocytic | Harvinainen (1–4 %) | 1 sairaudessa |
| ACANaggrecan | Ei kirjattu | 1 sairaudessa |
| ACOX1acyl-CoA oxidase 1 | Ei kirjattu | 1 sairaudessa |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ei kirjattu | 1 sairaudessa |
| ALPLalkaline phosphatase, biomineralization associated | Ei kirjattu | 1 sairaudessa |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Ei kirjattu | 1 sairaudessa |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Ei kirjattu | 1 sairaudessa |
| B9D2B9 domain containing 2 | Ei kirjattu | 1 sairaudessa |
| C12orf57chromosome 12 open reading frame 57 | Ei kirjattu | 1 sairaudessa |
| CBLCbl proto-oncogene | Ei kirjattu | 1 sairaudessa |
| CREBBPCREB binding lysine acetyltransferase | Ei kirjattu | 1 sairaudessa |
| CRPPACDP-L-ribitol pyrophosphorylase A | Ei kirjattu | 1 sairaudessa |
| CTNScystinosin, lysosomal cystine transporter | Ei kirjattu | 1 sairaudessa |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Ei kirjattu | 1 sairaudessa |
| DDR2discoidin domain receptor tyrosine kinase 2 | Ei kirjattu | 1 sairaudessa |
| DENND5ADENN domain containing 5A | Ei kirjattu | 1 sairaudessa |
| EDARectodysplasin A receptor | Ei kirjattu | 1 sairaudessa |
| EDARADDEDAR associated via death domain | Ei kirjattu | 1 sairaudessa |
| EP300EP300 lysine acetyltransferase | Ei kirjattu | 1 sairaudessa |
| FBN2fibrillin 2 | Ei kirjattu | 1 sairaudessa |
| FUCA1alpha-L-fucosidase 1 | Ei kirjattu | 1 sairaudessa |
| GJA1gap junction protein alpha 1 | Ei kirjattu | 1 sairaudessa |
| GJA5gap junction protein alpha 5 | Ei kirjattu | 1 sairaudessa |
| GJA8gap junction protein alpha 8 | Ei kirjattu | 1 sairaudessa |
| GKglycerol kinase | Ei kirjattu | 1 sairaudessa |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Ei kirjattu | 1 sairaudessa |
| INTUinturned planar cell polarity protein | Ei kirjattu | 1 sairaudessa |
| KATNIPkatanin interacting protein | Ei kirjattu | 1 sairaudessa |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Ei kirjattu | 1 sairaudessa |
| KDM1Alysine demethylase 1A | Ei kirjattu | 1 sairaudessa |
| MAGEL2MAGE family member L2 | Ei kirjattu | 1 sairaudessa |
| MAN2B1mannosidase alpha class 2B member 1 | Ei kirjattu | 1 sairaudessa |
| MBD5methyl-CpG binding domain protein 5 | Ei kirjattu | 1 sairaudessa |
| MED12mediator complex subunit 12 | Ei kirjattu | 2 sairaudessa |
| MED13Lmediator complex subunit 13L | Ei kirjattu | 1 sairaudessa |
| MID1midline 1 | Ei kirjattu | 1 sairaudessa |
| MMP2matrix metallopeptidase 2 | Ei kirjattu | 1 sairaudessa |
| MOCS1molybdenum cofactor synthesis 1 | Ei kirjattu | 1 sairaudessa |
| MOCS2molybdenum cofactor synthesis 2 | Ei kirjattu | 1 sairaudessa |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Ei kirjattu | 1 sairaudessa |
| MSX2msh homeobox 2 | Ei kirjattu | 1 sairaudessa |
| NFKBIANFKB inhibitor alpha | Ei kirjattu | 1 sairaudessa |
| OPHN1oligophrenin 1 | Ei kirjattu | 1 sairaudessa |
| ORC1origin recognition complex subunit 1 | Ei kirjattu | 1 sairaudessa |
| PAM16presequence translocase associated motor 16 | Ei kirjattu | 1 sairaudessa |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Ei kirjattu | 1 sairaudessa |
| PEX5peroxisomal biogenesis factor 5 | Ei kirjattu | 1 sairaudessa |
| PEX7peroxisomal biogenesis factor 7 | Ei kirjattu | 1 sairaudessa |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Ei kirjattu | 1 sairaudessa |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ei kirjattu | 1 sairaudessa |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Ei kirjattu | 1 sairaudessa |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Ei kirjattu | 1 sairaudessa |
| PLA2G6phospholipase A2 group VI | Ei kirjattu | 1 sairaudessa |
| POU1F1POU class 1 homeobox 1 | Ei kirjattu | 1 sairaudessa |
| PRMT7protein arginine methyltransferase 7 | Ei kirjattu | 1 sairaudessa |
| PTDSS1phosphatidylserine synthase 1 | Ei kirjattu | 1 sairaudessa |
| PYCR1pyrroline-5-carboxylate reductase 1 | Ei kirjattu | 1 sairaudessa |
| SIX6SIX homeobox 6 | Ei kirjattu | 1 sairaudessa |
| SKIC3SKI3 subunit of superkiller complex | Ei kirjattu | 1 sairaudessa |
| SLC34A3solute carrier family 34 member 3 | Ei kirjattu | 1 sairaudessa |
| SLC39A13solute carrier family 39 member 13 | Ei kirjattu | 1 sairaudessa |
| SNX10sorting nexin 10 | Ei kirjattu | 1 sairaudessa |
| SOX2SRY-box transcription factor 2 | Ei kirjattu | 1 sairaudessa |
| SPRTNSprT-like N-terminal domain | Ei kirjattu | 1 sairaudessa |
| STAG2STAG2 cohesin complex component | Ei kirjattu | 1 sairaudessa |
| STAT3signal transducer and activator of transcription 3 | Ei kirjattu | 1 sairaudessa |
| TBCEtubulin folding cofactor E | Ei kirjattu | 1 sairaudessa |
| TCF20transcription factor 20 | Ei kirjattu | 1 sairaudessa |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Ei kirjattu | 1 sairaudessa |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Ei kirjattu | 1 sairaudessa |
| UNC80unc-80 subunit of NALCN channel complex | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
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Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa