Egenskap
Frontal bossing
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Sammendrag
- Også kalt
- Frontal protuberance, Skull bossing
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Få mitt Genome Test455 gener knyttet til Frontal bossing
Endringer i disse genene forårsaker sjeldne tilstander der Frontal bossing forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ADKadenosine kinase | Alltid | I 1 tilstand |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Alltid | I 1 tilstand |
| ANKHANKH inorganic pyrophosphate transport regulator | Alltid | I 1 tilstand |
| ANTXR1ANTXR cell adhesion molecule 1 | Alltid | I 2 tilstander |
| ARID2AT-rich interaction domain 2 | Alltid | I 1 tilstand |
| AXIN1axin 1 | Alltid | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Alltid | I 1 tilstand |
| CEP57centrosomal protein 57 | Alltid | I 2 tilstander |
| CILK1ciliogenesis associated kinase 1 | Alltid | I 1 tilstand |
| COL11A2collagen type XI alpha 2 chain | Alltid | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Alltid | I 1 tilstand |
| COX4I1cytochrome c oxidase subunit 4I1 | Alltid | I 1 tilstand |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Alltid | I 1 tilstand |
| CUL7cullin 7 | Alltid | I 2 tilstander |
| DDX59DEAD-box helicase 59 | Alltid | I 2 tilstander |
| DICER1dicer 1, ribonuclease III | Alltid | I 1 tilstand |
| DNA2DNA replication helicase/nuclease 2 | Alltid | I 1 tilstand |
| DSEdermatan sulfate epimerase | Alltid | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Alltid | I 3 tilstander |
| ERI1exoribonuclease 1 | Alltid | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Alltid | I 2 tilstander |
| FBXL4F-box and leucine rich repeat protein 4 | Alltid | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Alltid | I 6 tilstander |
| FGFR3fibroblast growth factor receptor 3 | Alltid | I 9 tilstander |
| GMNNgeminin DNA replication inhibitor | Alltid | I 1 tilstand |
| GNB2G protein subunit beta 2 | Alltid | I 1 tilstand |
| GNSglucosamine (N-acetyl)-6-sulfatase | Alltid | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Alltid | I 1 tilstand |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Alltid | I 1 tilstand |
| IDUAalpha-L-iduronidase | Alltid | I 2 tilstander |
| IFT140intraflagellar transport 140 | Alltid | I 2 tilstander |
| IFT56intraflagellar transport 56 | Alltid | I 1 tilstand |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Alltid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alltid | I 1 tilstand |
| ITCHitchy E3 ubiquitin protein ligase | Alltid | I 2 tilstander |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alltid | I 1 tilstand |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Alltid | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Alltid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| KIF7kinesin family member 7 | Alltid | I 4 tilstander |
Vis 415 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| KLF1KLF transcription factor 1 | Alltid | I 1 tilstand |
| KPTNkaptin, actin binding protein | Alltid | I 2 tilstander |
| LBRlamin B receptor | Alltid | I 2 tilstander |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Alltid | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Alltid | I 1 tilstand |
| OBSL1obscurin like cytoskeletal adaptor 1 | Alltid | I 2 tilstander |
| PAK1p21 (RAC1) activated kinase 1 | Alltid | I 1 tilstand |
| PHEXphosphate regulating endopeptidase X-linked | Alltid | I 2 tilstander |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Alltid | I 1 tilstand |
| PTCH1patched 1 | Alltid | I 3 tilstander |
| RNPC3RNA binding region (RNP1, RRM) containing 3 | Alltid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Alltid | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Alltid | I 2 tilstander |
| RUNX2RUNX family transcription factor 2 | Alltid | I 2 tilstander |
| SEC23ASEC23 homolog A, COPII component | Alltid | I 2 tilstander |
| SEC24DSEC24 homolog D, COPII component | Alltid | I 2 tilstander |
| SIK3SIK family kinase 3 | Alltid | I 1 tilstand |
| SOSTsclerostin | Alltid | I 2 tilstander |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alltid | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Alltid | I 3 tilstander |
| TBX15T-box transcription factor 15 | Alltid | I 2 tilstander |
| TIMM50translocase of inner mitochondrial membrane 50 | Alltid | I 1 tilstand |
| VDRvitamin D receptor | Alltid | I 2 tilstander |
| WDR35WD repeat domain 35 | Alltid | I 3 tilstander |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Alltid | I 1 tilstand |
| AIPAHR interacting HSP90 co-chaperone | Svært ofte (80–99 %) | I 2 tilstander |
| APCAPC regulator of Wnt signaling pathway | Svært ofte (80–99 %) | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Svært ofte (80–99 %) | I 2 tilstander |
| CAMKMTcalmodulin-lysine N-methyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Svært ofte (80–99 %) | I 1 tilstand |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Svært ofte (80–99 %) | I 2 tilstander |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Svært ofte (80–99 %) | I 2 tilstander |
| CHD3chromodomain helicase DNA binding protein 3 | Svært ofte (80–99 %) | I 1 tilstand |
| CHD6chromodomain helicase DNA binding protein 6 | Svært ofte (80–99 %) | I 1 tilstand |
| CLCN7Cl-/H+ antiporter 7 | Svært ofte (80–99 %) | I 1 tilstand |
| COG4component of oligomeric golgi complex 4 | Svært ofte (80–99 %) | I 1 tilstand |
| CPLX1complexin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CRTAPcartilage associated protein | Svært ofte (80–99 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CTSKcathepsin K | Svært ofte (80–99 %) | I 2 tilstander |
| CWC27CWC27 spliceosome associated cyclophilin | Svært ofte (80–99 %) | I 2 tilstander |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Svært ofte (80–99 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Svært ofte (80–99 %) | I 1 tilstand |
| EFNB1ephrin B1 | Svært ofte (80–99 %) | I 2 tilstander |
| GPC6glypican 6 | Svært ofte (80–99 %) | I 2 tilstander |
| HDAC6histone deacetylase 6 | Svært ofte (80–99 %) | I 2 tilstander |
| HRASHRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| IFT122intraflagellar transport 122 | Svært ofte (80–99 %) | I 2 tilstander |
| IFT43intraflagellar transport 43 | Svært ofte (80–99 %) | I 2 tilstander |
| IFT52intraflagellar transport 52 | Svært ofte (80–99 %) | I 1 tilstand |
| INPPL1inositol polyphosphate phosphatase like 1 | Svært ofte (80–99 %) | I 2 tilstander |
| KRASKRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 3 tilstander |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| LRP4LDL receptor related protein 4 | Svært ofte (80–99 %) | I 2 tilstander |
| MEN1menin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Svært ofte (80–99 %) | I 1 tilstand |
| NLRP3NLR family pyrin domain containing 3 | Svært ofte (80–99 %) | I 2 tilstander |
| NRASNRAS proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Svært ofte (80–99 %) | I 4 tilstander |
| P4HBprolyl 4-hydroxylase subunit beta | Svært ofte (80–99 %) | I 2 tilstander |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Svært ofte (80–99 %) | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Svært ofte (80–99 %) | I 2 tilstander |
| POLR3ARNA polymerase III subunit A | Svært ofte (80–99 %) | I 2 tilstander |
| PPM1Bprotein phosphatase, Mg2+/Mn2+ dependent 1B | Svært ofte (80–99 %) | I 1 tilstand |
| PREPLprolyl endopeptidase like | Svært ofte (80–99 %) | I 2 tilstander |
| RAB39BRAB39B, member RAS oncogene family | Svært ofte (80–99 %) | I 2 tilstander |
| RAI1retinoic acid induced 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Svært ofte (80–99 %) | I 2 tilstander |
| RNU12RNA, U12 small nuclear | Svært ofte (80–99 %) | I 2 tilstander |
| RPS6KA3ribosomal protein S6 kinase A3 | Svært ofte (80–99 %) | I 3 tilstander |
| SETBP1SET binding protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SIX2SIX homeobox 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC3A1solute carrier family 3 member 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SMOC1SPARC related modular calcium binding 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SP7Sp7 transcription factor | Svært ofte (80–99 %) | I 1 tilstand |
| TBC1D7TBC1 domain family member 7 | Svært ofte (80–99 %) | I 1 tilstand |
| TRIM37tripartite motif containing 37 | Svært ofte (80–99 %) | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Svært ofte (80–99 %) | I 2 tilstander |
| TRPS1transcriptional repressor GATA binding 1 | Svært ofte (80–99 %) | I 1 tilstand |
| VPS35LVPS35 endosomal protein sorting factor like | Svært ofte (80–99 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Svært ofte (80–99 %) | I 1 tilstand |
| WDR19WD repeat domain 19 | Svært ofte (80–99 %) | I 2 tilstander |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Svært ofte (80–99 %) | I 1 tilstand |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| AGO2argonaute RISC catalytic component 2 | Ofte (30–79 %) | I 1 tilstand |
| ALX4ALX homeobox 4 | Ofte (30–79 %) | I 2 tilstander |
| AMER1APC membrane recruitment protein 1 | Ofte (30–79 %) | I 2 tilstander |
| ANKRD11ankyrin repeat domain 11 | Ofte (30–79 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ofte (30–79 %) | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Ofte (30–79 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Ofte (30–79 %) | I 2 tilstander |
| B9D1B9 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| BGNbiglycan | Ofte (30–79 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Ofte (30–79 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| CDH2cadherin 2 | Ofte (30–79 %) | I 1 tilstand |
| CHD1chromodomain helicase DNA binding protein 1 | Ofte (30–79 %) | I 2 tilstander |
| CHST3carbohydrate sulfotransferase 3 | Ofte (30–79 %) | I 1 tilstand |
| CKAP2Lcytoskeleton associated protein 2L | Ofte (30–79 %) | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Ofte (30–79 %) | I 3 tilstander |
| COL1A1collagen type I alpha 1 chain | Ofte (30–79 %) | I 2 tilstander |
| COL1A2collagen type I alpha 2 chain | Ofte (30–79 %) | I 2 tilstander |
| COX5Acytochrome c oxidase subunit 5A | Ofte (30–79 %) | I 1 tilstand |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Ofte (30–79 %) | I 1 tilstand |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Ofte (30–79 %) | I 2 tilstander |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Ofte (30–79 %) | I 2 tilstander |
| DLX3distal-less homeobox 3 | Ofte (30–79 %) | I 2 tilstander |
| DLX5distal-less homeobox 5 | Ofte (30–79 %) | I 1 tilstand |
| DVL3dishevelled segment polarity protein 3 | Ofte (30–79 %) | I 2 tilstander |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Ofte (30–79 %) | I 1 tilstand |
| DYNC2I1dynein 2 intermediate chain 1 | Ofte (30–79 %) | I 1 tilstand |
| DYNC2I2dynein 2 intermediate chain 2 | Ofte (30–79 %) | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Ofte (30–79 %) | I 2 tilstander |
| EDAectodysplasin A | Ofte (30–79 %) | I 2 tilstander |
| EDA2Rectodysplasin A2 receptor | Ofte (30–79 %) | I 1 tilstand |
| EMC10ER membrane protein complex subunit 10 | Ofte (30–79 %) | I 1 tilstand |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Ofte (30–79 %) | I 1 tilstand |
| FAM149B1family with sequence similarity 149 member B1 | Ofte (30–79 %) | I 1 tilstand |
| FAM177A1family with sequence similarity 177 member A1 | Ofte (30–79 %) | I 1 tilstand |
| FBN1fibrillin 1 | Ofte (30–79 %) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| FHfumarate hydratase | Ofte (30–79 %) | I 2 tilstander |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Ofte (30–79 %) | I 1 tilstand |
| FLNAfilamin A | Ofte (30–79 %) | I 3 tilstander |
| FMR1fragile X messenger ribonucleoprotein 1 | Ofte (30–79 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Ofte (30–79 %) | I 3 tilstander |
| GLI3GLI family zinc finger 3 | Ofte (30–79 %) | I 2 tilstander |
| GPR101G protein-coupled receptor 101 | Ofte (30–79 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Ofte (30–79 %) | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ofte (30–79 %) | I 1 tilstand |
| HYAL2hyaluronidase 2 | Ofte (30–79 %) | I 1 tilstand |
| IFT80intraflagellar transport 80 | Ofte (30–79 %) | I 1 tilstand |
| IGF2insulin like growth factor 2 | Ofte (30–79 %) | I 3 tilstander |
| IL11RAinterleukin 11 receptor subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| INTS1integrator complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| IPO8importin 8 | Ofte (30–79 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Ofte (30–79 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Ofte (30–79 %) | I 1 tilstand |
| KIAA0753KIAA0753 | Ofte (30–79 %) | I 3 tilstander |
| KIDINS220kinase D interacting substrate 220 | Ofte (30–79 %) | I 1 tilstand |
| KYNUkynureninase | Ofte (30–79 %) | I 1 tilstand |
| LIFRLIF receptor subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Ofte (30–79 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| MITFmelanocyte inducing transcription factor | Ofte (30–79 %) | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Ofte (30–79 %) | I 2 tilstander |
| NCAPG2non-SMC condensin II complex subunit G2 | Ofte (30–79 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Ofte (30–79 %) | I 1 tilstand |
| NFIAnuclear factor I A | Ofte (30–79 %) | I 1 tilstand |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 2 tilstander |
| NONOnon-POU domain containing octamer binding | Ofte (30–79 %) | I 2 tilstander |
| NPR2natriuretic peptide receptor 2 | Ofte (30–79 %) | I 2 tilstander |
| NXNnucleoredoxin | Ofte (30–79 %) | I 2 tilstander |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Ofte (30–79 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Ofte (30–79 %) | I 2 tilstander |
| PDE6Dphosphodiesterase 6D | Ofte (30–79 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| POLD3DNA polymerase delta 3, accessory subunit | Ofte (30–79 %) | I 1 tilstand |
| POLR1BRNA polymerase I subunit B | Ofte (30–79 %) | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Ofte (30–79 %) | I 1 tilstand |
| POLR1DRNA polymerase I and III subunit D | Ofte (30–79 %) | I 1 tilstand |
| PRIM1DNA primase subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PRKD1protein kinase D1 | Ofte (30–79 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Ofte (30–79 %) | I 2 tilstander |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Ofte (30–79 %) | I 2 tilstander |
| SKISKI proto-oncogene | Ofte (30–79 %) | I 3 tilstander |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Ofte (30–79 %) | I 1 tilstand |
| SNX14sorting nexin 14 | Ofte (30–79 %) | I 1 tilstand |
| SOX5SRY-box transcription factor 5 | Ofte (30–79 %) | I 2 tilstander |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Ofte (30–79 %) | I 1 tilstand |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Ofte (30–79 %) | I 1 tilstand |
| TBX4T-box transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Ofte (30–79 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Ofte (30–79 %) | I 2 tilstander |
| TMEM231transmembrane protein 231 | Ofte (30–79 %) | I 1 tilstand |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Ofte (30–79 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Ofte (30–79 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Ofte (30–79 %) | I 2 tilstander |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Ofte (30–79 %) | I 1 tilstand |
| WNT5AWnt family member 5A | Ofte (30–79 %) | I 2 tilstander |
| ZIC1Zic family zinc finger 1 | Ofte (30–79 %) | I 1 tilstand |
| ZIC4Zic family zinc finger 4 | Ofte (30–79 %) | I 1 tilstand |
| ZNF148zinc finger protein 148 | Ofte (30–79 %) | I 1 tilstand |
| ACP5acid phosphatase 5, tartrate resistant | Noen ganger (5–29 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Noen ganger (5–29 %) | I 2 tilstander |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Noen ganger (5–29 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Noen ganger (5–29 %) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRIP1BRCA1 interacting DNA helicase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BRWD3bromodomain and WD repeat domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Noen ganger (5–29 %) | I 1 tilstand |
| BUB3BUB3 mitotic checkpoint protein | Noen ganger (5–29 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Noen ganger (5–29 %) | I 1 tilstand |
| CHD5chromodomain helicase DNA binding protein 5 | Noen ganger (5–29 %) | I 1 tilstand |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Noen ganger (5–29 %) | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| COL9A2collagen type IX alpha 2 chain | Noen ganger (5–29 %) | I 1 tilstand |
| CUX1cut like homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DDX6DEAD-box helicase 6 | Noen ganger (5–29 %) | I 1 tilstand |
| DEAF1DEAF1 transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Noen ganger (5–29 %) | I 2 tilstander |
| DLK1delta like non-canonical Notch ligand 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF5Aeukaryotic translation initiation factor 5A | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | Noen ganger (5–29 %) | I 1 tilstand |
| FANCBFA complementation group B | Noen ganger (5–29 %) | I 1 tilstand |
| FANCCFA complementation group C | Noen ganger (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCEFA complementation group E | Noen ganger (5–29 %) | I 1 tilstand |
| FANCFFA complementation group F | Noen ganger (5–29 %) | I 1 tilstand |
| FANCGFA complementation group G | Noen ganger (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Noen ganger (5–29 %) | I 1 tilstand |
| FANCLFA complementation group L | Noen ganger (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Noen ganger (5–29 %) | I 1 tilstand |
| FLNBfilamin B | Noen ganger (5–29 %) | I 5 tilstander |
| FRYLFRY like transcription coactivator | Noen ganger (5–29 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| GATAD2BGATA zinc finger domain containing 2B | Noen ganger (5–29 %) | I 1 tilstand |
| GLB1galactosidase beta 1 | Noen ganger (5–29 %) | I 2 tilstander |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GRB10growth factor receptor bound protein 10 | Noen ganger (5–29 %) | I 1 tilstand |
| H3-3BH3.3 histone B | Noen ganger (5–29 %) | I 1 tilstand |
| HBA1hemoglobin subunit alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HBA2hemoglobin subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HBBhemoglobin subunit beta | Noen ganger (5–29 %) | I 2 tilstander |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| HK1hexokinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HMGA2high mobility group AT-hook 2 | Noen ganger (5–29 %) | I 2 tilstander |
| HMOX1heme oxygenase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Noen ganger (5–29 %) | I 1 tilstand |
| HOXD13homeobox D13 | Noen ganger (5–29 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Noen ganger (5–29 %) | I 1 tilstand |
| JARID2jumonji and AT-rich interaction domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCTD1potassium channel tetramerization domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM5Alysine demethylase 5A | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| LARS1leucyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LEMD3LEM domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Noen ganger (5–29 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Noen ganger (5–29 %) | I 1 tilstand |
| MAN1B1mannosidase alpha class 1B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Noen ganger (5–29 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Noen ganger (5–29 %) | I 1 tilstand |
| MED27mediator complex subunit 27 | Noen ganger (5–29 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MEGF8multiple EGF like domains 8 | Noen ganger (5–29 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Noen ganger (5–29 %) | I 1 tilstand |
| MSL2MSL complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MTX2metaxin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MYH3myosin heavy chain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NKX6-2NK6 homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NTNG2netrin G2 | Noen ganger (5–29 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Noen ganger (5–29 %) | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Noen ganger (5–29 %) | I 1 tilstand |
| PDPNpodoplanin | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| PLAG1PLAG1 zinc finger | Noen ganger (5–29 %) | I 1 tilstand |
| PLCH1phospholipase C eta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Noen ganger (5–29 %) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Noen ganger (5–29 %) | I 3 tilstander |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PRDM16PR/SET domain 16 | Noen ganger (5–29 %) | I 1 tilstand |
| PRDM5PR/SET domain 5 | Noen ganger (5–29 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Noen ganger (5–29 %) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PTCH2patched 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Noen ganger (5–29 %) | I 4 tilstander |
| PTHLHparathyroid hormone like hormone | Noen ganger (5–29 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Noen ganger (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Noen ganger (5–29 %) | I 3 tilstander |
| RFWD3ring finger and WD repeat domain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Noen ganger (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SALL4spalt like transcription factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Noen ganger (5–29 %) | I 2 tilstander |
| SCNM1sodium channel modifier 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Noen ganger (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Noen ganger (5–29 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SMC5structural maintenance of chromosomes 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SMG8SMG8 nonsense mediated mRNA decay factor | Noen ganger (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Noen ganger (5–29 %) | I 2 tilstander |
| SOX9SRY-box transcription factor 9 | Noen ganger (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Noen ganger (5–29 %) | I 2 tilstander |
| SPOPspeckle type BTB/POZ protein | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Noen ganger (5–29 %) | I 1 tilstand |
| TBCBtubulin folding cofactor B | Noen ganger (5–29 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Noen ganger (5–29 %) | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Noen ganger (5–29 %) | I 2 tilstander |
| TRIP13thyroid hormone receptor interactor 13 | Noen ganger (5–29 %) | I 1 tilstand |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Noen ganger (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Noen ganger (5–29 %) | I 1 tilstand |
| UBE4Bubiquitination factor E4B | Noen ganger (5–29 %) | I 1 tilstand |
| UGP2UDP-glucose pyrophosphorylase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Noen ganger (5–29 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Noen ganger (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF469zinc finger protein 469 | Noen ganger (5–29 %) | I 1 tilstand |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Noen ganger (5–29 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Sjelden (1–4%) | I 1 tilstand |
| EPB41erythrocyte membrane protein band 4.1 | Sjelden (1–4%) | I 1 tilstand |
| GYPCglycophorin C (Gerbich blood group) | Sjelden (1–4%) | I 1 tilstand |
| H3-3AH3.3 histone A | Sjelden (1–4%) | I 1 tilstand |
| HEPACAMhepatic and glial cell adhesion molecule | Sjelden (1–4%) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Sjelden (1–4%) | I 1 tilstand |
| SPTA1spectrin alpha, erythrocytic 1 | Sjelden (1–4%) | I 1 tilstand |
| SPTBspectrin beta, erythrocytic | Sjelden (1–4%) | I 1 tilstand |
| ACANaggrecan | Ikke registrert | I 1 tilstand |
| ACOX1acyl-CoA oxidase 1 | Ikke registrert | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ikke registrert | I 1 tilstand |
| ALPLalkaline phosphatase, biomineralization associated | Ikke registrert | I 1 tilstand |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Ikke registrert | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Ikke registrert | I 1 tilstand |
| B9D2B9 domain containing 2 | Ikke registrert | I 1 tilstand |
| C12orf57chromosome 12 open reading frame 57 | Ikke registrert | I 1 tilstand |
| CBLCbl proto-oncogene | Ikke registrert | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Ikke registrert | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Ikke registrert | I 1 tilstand |
| CTNScystinosin, lysosomal cystine transporter | Ikke registrert | I 1 tilstand |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Ikke registrert | I 1 tilstand |
| DDR2discoidin domain receptor tyrosine kinase 2 | Ikke registrert | I 1 tilstand |
| DENND5ADENN domain containing 5A | Ikke registrert | I 1 tilstand |
| EDARectodysplasin A receptor | Ikke registrert | I 1 tilstand |
| EDARADDEDAR associated via death domain | Ikke registrert | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ikke registrert | I 1 tilstand |
| FBN2fibrillin 2 | Ikke registrert | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Ikke registrert | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ikke registrert | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Ikke registrert | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Ikke registrert | I 1 tilstand |
| GKglycerol kinase | Ikke registrert | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Ikke registrert | I 1 tilstand |
| INTUinturned planar cell polarity protein | Ikke registrert | I 1 tilstand |
| KATNIPkatanin interacting protein | Ikke registrert | I 1 tilstand |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Ikke registrert | I 1 tilstand |
| KDM1Alysine demethylase 1A | Ikke registrert | I 1 tilstand |
| MAGEL2MAGE family member L2 | Ikke registrert | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Ikke registrert | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Ikke registrert | I 1 tilstand |
| MED12mediator complex subunit 12 | Ikke registrert | I 2 tilstander |
| MED13Lmediator complex subunit 13L | Ikke registrert | I 1 tilstand |
| MID1midline 1 | Ikke registrert | I 1 tilstand |
| MMP2matrix metallopeptidase 2 | Ikke registrert | I 1 tilstand |
| MOCS1molybdenum cofactor synthesis 1 | Ikke registrert | I 1 tilstand |
| MOCS2molybdenum cofactor synthesis 2 | Ikke registrert | I 1 tilstand |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Ikke registrert | I 1 tilstand |
| MSX2msh homeobox 2 | Ikke registrert | I 1 tilstand |
| NFKBIANFKB inhibitor alpha | Ikke registrert | I 1 tilstand |
| OPHN1oligophrenin 1 | Ikke registrert | I 1 tilstand |
| ORC1origin recognition complex subunit 1 | Ikke registrert | I 1 tilstand |
| PAM16presequence translocase associated motor 16 | Ikke registrert | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Ikke registrert | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Ikke registrert | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Ikke registrert | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Ikke registrert | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ikke registrert | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Ikke registrert | I 1 tilstand |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Ikke registrert | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ikke registrert | I 1 tilstand |
| POU1F1POU class 1 homeobox 1 | Ikke registrert | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Ikke registrert | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Ikke registrert | I 1 tilstand |
| PYCR1pyrroline-5-carboxylate reductase 1 | Ikke registrert | I 1 tilstand |
| SIX6SIX homeobox 6 | Ikke registrert | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Ikke registrert | I 1 tilstand |
| SLC34A3solute carrier family 34 member 3 | Ikke registrert | I 1 tilstand |
| SLC39A13solute carrier family 39 member 13 | Ikke registrert | I 1 tilstand |
| SNX10sorting nexin 10 | Ikke registrert | I 1 tilstand |
| SOX2SRY-box transcription factor 2 | Ikke registrert | I 1 tilstand |
| SPRTNSprT-like N-terminal domain | Ikke registrert | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Ikke registrert | I 1 tilstand |
| STAT3signal transducer and activator of transcription 3 | Ikke registrert | I 1 tilstand |
| TBCEtubulin folding cofactor E | Ikke registrert | I 1 tilstand |
| TCF20transcription factor 20 | Ikke registrert | I 1 tilstand |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Ikke registrert | I 1 tilstand |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Ikke registrert | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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