Požymis
Frontal bossing
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Santrauka
- Taip pat vadinama
- Frontal protuberance, Skull bossing
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Frontal bossing, and the rest of your genome, with one test.
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Įsigyti savo Genome Test455 genų susiję su Frontal bossing
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Frontal bossing. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ADKadenosine kinase | Visada | 1 ligoje |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Visada | 1 ligoje |
| ANKHANKH inorganic pyrophosphate transport regulator | Visada | 1 ligoje |
| ANTXR1ANTXR cell adhesion molecule 1 | Visada | 2 ligose |
| ARID2AT-rich interaction domain 2 | Visada | 1 ligoje |
| AXIN1axin 1 | Visada | 1 ligoje |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Visada | 1 ligoje |
| CEP57centrosomal protein 57 | Visada | 2 ligose |
| CILK1ciliogenesis associated kinase 1 | Visada | 1 ligoje |
| COL11A2collagen type XI alpha 2 chain | Visada | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Visada | 1 ligoje |
| COX4I1cytochrome c oxidase subunit 4I1 | Visada | 1 ligoje |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Visada | 1 ligoje |
| CUL7cullin 7 | Visada | 2 ligose |
| DDX59DEAD-box helicase 59 | Visada | 2 ligose |
| DICER1dicer 1, ribonuclease III | Visada | 1 ligoje |
| DNA2DNA replication helicase/nuclease 2 | Visada | 1 ligoje |
| DSEdermatan sulfate epimerase | Visada | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Visada | 3 ligose |
| ERI1exoribonuclease 1 | Visada | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | Visada | 2 ligose |
| FBXL4F-box and leucine rich repeat protein 4 | Visada | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Visada | 6 ligose |
| FGFR3fibroblast growth factor receptor 3 | Visada | 9 ligose |
| GMNNgeminin DNA replication inhibitor | Visada | 1 ligoje |
| GNB2G protein subunit beta 2 | Visada | 1 ligoje |
| GNSglucosamine (N-acetyl)-6-sulfatase | Visada | 1 ligoje |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Visada | 1 ligoje |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Visada | 1 ligoje |
| IDUAalpha-L-iduronidase | Visada | 2 ligose |
| IFT140intraflagellar transport 140 | Visada | 2 ligose |
| IFT56intraflagellar transport 56 | Visada | 1 ligoje |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Visada | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Visada | 1 ligoje |
| ITCHitchy E3 ubiquitin protein ligase | Visada | 2 ligose |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Visada | 1 ligoje |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Visada | 1 ligoje |
| JAG1jagged canonical Notch ligand 1 | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| KIF7kinesin family member 7 | Visada | 4 ligose |
Rodyti dar 415 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| KLF1KLF transcription factor 1 | Visada | 1 ligoje |
| KPTNkaptin, actin binding protein | Visada | 2 ligose |
| LBRlamin B receptor | Visada | 2 ligose |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Visada | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Visada | 1 ligoje |
| OBSL1obscurin like cytoskeletal adaptor 1 | Visada | 2 ligose |
| PAK1p21 (RAC1) activated kinase 1 | Visada | 1 ligoje |
| PHEXphosphate regulating endopeptidase X-linked | Visada | 2 ligose |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Visada | 1 ligoje |
| PTCH1patched 1 | Visada | 3 ligose |
| RNPC3RNA binding region (RNP1, RRM) containing 3 | Visada | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Visada | 1 ligoje |
| RSPRY1ring finger and SPRY domain containing 1 | Visada | 2 ligose |
| RUNX2RUNX family transcription factor 2 | Visada | 2 ligose |
| SEC23ASEC23 homolog A, COPII component | Visada | 2 ligose |
| SEC24DSEC24 homolog D, COPII component | Visada | 2 ligose |
| SIK3SIK family kinase 3 | Visada | 1 ligoje |
| SOSTsclerostin | Visada | 2 ligose |
| SPOUT1SPOUT domain containing methyltransferase 1 | Visada | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Visada | 3 ligose |
| TBX15T-box transcription factor 15 | Visada | 2 ligose |
| TIMM50translocase of inner mitochondrial membrane 50 | Visada | 1 ligoje |
| VDRvitamin D receptor | Visada | 2 ligose |
| WDR35WD repeat domain 35 | Visada | 3 ligose |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Visada | 1 ligoje |
| AIPAHR interacting HSP90 co-chaperone | Labai dažnai (80–99%) | 2 ligose |
| APCAPC regulator of Wnt signaling pathway | Labai dažnai (80–99%) | 1 ligoje |
| B3GALT6beta-1,3-galactosyltransferase 6 | Labai dažnai (80–99%) | 2 ligose |
| CAMKMTcalmodulin-lysine N-methyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| CCDC22CCC complex scaffolding subunit CCDC22 | Labai dažnai (80–99%) | 1 ligoje |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Labai dažnai (80–99%) | 2 ligose |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Labai dažnai (80–99%) | 2 ligose |
| CHD3chromodomain helicase DNA binding protein 3 | Labai dažnai (80–99%) | 1 ligoje |
| CHD6chromodomain helicase DNA binding protein 6 | Labai dažnai (80–99%) | 1 ligoje |
| CLCN7Cl-/H+ antiporter 7 | Labai dažnai (80–99%) | 1 ligoje |
| COG4component of oligomeric golgi complex 4 | Labai dažnai (80–99%) | 1 ligoje |
| CPLX1complexin 1 | Labai dažnai (80–99%) | 1 ligoje |
| CRTAPcartilage associated protein | Labai dažnai (80–99%) | 1 ligoje |
| CTBP1C-terminal binding protein 1 | Labai dažnai (80–99%) | 2 ligose |
| CTSKcathepsin K | Labai dažnai (80–99%) | 2 ligose |
| CWC27CWC27 spliceosome associated cyclophilin | Labai dažnai (80–99%) | 2 ligose |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Labai dažnai (80–99%) | 1 ligoje |
| DPYSL5dihydropyrimidinase like 5 | Labai dažnai (80–99%) | 1 ligoje |
| EFNB1ephrin B1 | Labai dažnai (80–99%) | 2 ligose |
| GPC6glypican 6 | Labai dažnai (80–99%) | 2 ligose |
| HDAC6histone deacetylase 6 | Labai dažnai (80–99%) | 2 ligose |
| HRASHRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| IFT122intraflagellar transport 122 | Labai dažnai (80–99%) | 2 ligose |
| IFT43intraflagellar transport 43 | Labai dažnai (80–99%) | 2 ligose |
| IFT52intraflagellar transport 52 | Labai dažnai (80–99%) | 1 ligoje |
| INPPL1inositol polyphosphate phosphatase like 1 | Labai dažnai (80–99%) | 2 ligose |
| KRASKRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 3 ligose |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| LRP4LDL receptor related protein 4 | Labai dažnai (80–99%) | 2 ligose |
| MEN1menin 1 | Labai dažnai (80–99%) | 1 ligoje |
| NELFAnegative elongation factor complex member A | Labai dažnai (80–99%) | 1 ligoje |
| NLRP3NLR family pyrin domain containing 3 | Labai dažnai (80–99%) | 2 ligose |
| NRASNRAS proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| NSD2nuclear receptor binding SET domain protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Labai dažnai (80–99%) | 4 ligose |
| P4HBprolyl 4-hydroxylase subunit beta | Labai dažnai (80–99%) | 2 ligose |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| PCGF2polycomb group ring finger 2 | Labai dažnai (80–99%) | 1 ligoje |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Labai dažnai (80–99%) | 1 ligoje |
| POLEDNA polymerase epsilon, catalytic subunit | Labai dažnai (80–99%) | 2 ligose |
| POLR3ARNA polymerase III subunit A | Labai dažnai (80–99%) | 2 ligose |
| PPM1Bprotein phosphatase, Mg2+/Mn2+ dependent 1B | Labai dažnai (80–99%) | 1 ligoje |
| PREPLprolyl endopeptidase like | Labai dažnai (80–99%) | 2 ligose |
| RAB39BRAB39B, member RAS oncogene family | Labai dažnai (80–99%) | 2 ligose |
| RAI1retinoic acid induced 1 | Labai dažnai (80–99%) | 1 ligoje |
| RECQL4RecQ like helicase 4 | Labai dažnai (80–99%) | 2 ligose |
| RNU12RNA, U12 small nuclear | Labai dažnai (80–99%) | 2 ligose |
| RPS6KA3ribosomal protein S6 kinase A3 | Labai dažnai (80–99%) | 3 ligose |
| SETBP1SET binding protein 1 | Labai dažnai (80–99%) | 2 ligose |
| SIX2SIX homeobox 2 | Labai dažnai (80–99%) | 1 ligoje |
| SLC26A2solute carrier family 26 member 2 | Labai dažnai (80–99%) | 1 ligoje |
| SLC3A1solute carrier family 3 member 1 | Labai dažnai (80–99%) | 2 ligose |
| SMOC1SPARC related modular calcium binding 1 | Labai dažnai (80–99%) | 2 ligose |
| SP7Sp7 transcription factor | Labai dažnai (80–99%) | 1 ligoje |
| TBC1D7TBC1 domain family member 7 | Labai dažnai (80–99%) | 1 ligoje |
| TRIM37tripartite motif containing 37 | Labai dažnai (80–99%) | 1 ligoje |
| TRIP11thyroid hormone receptor interactor 11 | Labai dažnai (80–99%) | 2 ligose |
| TRPS1transcriptional repressor GATA binding 1 | Labai dažnai (80–99%) | 1 ligoje |
| VPS35LVPS35 endosomal protein sorting factor like | Labai dažnai (80–99%) | 1 ligoje |
| WASHC5WASH complex subunit 5 | Labai dažnai (80–99%) | 1 ligoje |
| WDR19WD repeat domain 19 | Labai dažnai (80–99%) | 2 ligose |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Labai dažnai (80–99%) | 1 ligoje |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Dažnai (30–79%) | 1 ligoje |
| AGO2argonaute RISC catalytic component 2 | Dažnai (30–79%) | 1 ligoje |
| ALX4ALX homeobox 4 | Dažnai (30–79%) | 2 ligose |
| AMER1APC membrane recruitment protein 1 | Dažnai (30–79%) | 2 ligose |
| ANKRD11ankyrin repeat domain 11 | Dažnai (30–79%) | 1 ligoje |
| ARID1BAT-rich interaction domain 1B | Dažnai (30–79%) | 1 ligoje |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Dažnai (30–79%) | 1 ligoje |
| B3GLCTbeta 3-glucosyltransferase | Dažnai (30–79%) | 2 ligose |
| B9D1B9 domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| BGNbiglycan | Dažnai (30–79%) | 1 ligoje |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Dažnai (30–79%) | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Dažnai (30–79%) | 1 ligoje |
| CDH2cadherin 2 | Dažnai (30–79%) | 1 ligoje |
| CHD1chromodomain helicase DNA binding protein 1 | Dažnai (30–79%) | 2 ligose |
| CHST3carbohydrate sulfotransferase 3 | Dažnai (30–79%) | 1 ligoje |
| CKAP2Lcytoskeleton associated protein 2L | Dažnai (30–79%) | 1 ligoje |
| COL11A1collagen type XI alpha 1 chain | Dažnai (30–79%) | 3 ligose |
| COL1A1collagen type I alpha 1 chain | Dažnai (30–79%) | 2 ligose |
| COL1A2collagen type I alpha 2 chain | Dažnai (30–79%) | 2 ligose |
| COX5Acytochrome c oxidase subunit 5A | Dažnai (30–79%) | 1 ligoje |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| CSPP1centrosome and spindle pole associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| CTNNB1catenin beta 1 | Dažnai (30–79%) | 1 ligoje |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Dažnai (30–79%) | 2 ligose |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Dažnai (30–79%) | 2 ligose |
| DLX3distal-less homeobox 3 | Dažnai (30–79%) | 2 ligose |
| DLX5distal-less homeobox 5 | Dažnai (30–79%) | 1 ligoje |
| DVL3dishevelled segment polarity protein 3 | Dažnai (30–79%) | 2 ligose |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Dažnai (30–79%) | 1 ligoje |
| DYNC2I1dynein 2 intermediate chain 1 | Dažnai (30–79%) | 1 ligoje |
| DYNC2I2dynein 2 intermediate chain 2 | Dažnai (30–79%) | 1 ligoje |
| EBPEBP cholestenol delta-isomerase | Dažnai (30–79%) | 2 ligose |
| EDAectodysplasin A | Dažnai (30–79%) | 2 ligose |
| EDA2Rectodysplasin A2 receptor | Dažnai (30–79%) | 1 ligoje |
| EMC10ER membrane protein complex subunit 10 | Dažnai (30–79%) | 1 ligoje |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Dažnai (30–79%) | 1 ligoje |
| FAM149B1family with sequence similarity 149 member B1 | Dažnai (30–79%) | 1 ligoje |
| FAM177A1family with sequence similarity 177 member A1 | Dažnai (30–79%) | 1 ligoje |
| FBN1fibrillin 1 | Dažnai (30–79%) | 1 ligoje |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Dažnai (30–79%) | 1 ligoje |
| FHfumarate hydratase | Dažnai (30–79%) | 2 ligose |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Dažnai (30–79%) | 1 ligoje |
| FLNAfilamin A | Dažnai (30–79%) | 3 ligose |
| FMR1fragile X messenger ribonucleoprotein 1 | Dažnai (30–79%) | 1 ligoje |
| FZD2frizzled class receptor 2 | Dažnai (30–79%) | 3 ligose |
| GLI3GLI family zinc finger 3 | Dažnai (30–79%) | 2 ligose |
| GPR101G protein-coupled receptor 101 | Dažnai (30–79%) | 1 ligoje |
| HDAC4histone deacetylase 4 | Dažnai (30–79%) | 1 ligoje |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Dažnai (30–79%) | 1 ligoje |
| HYAL2hyaluronidase 2 | Dažnai (30–79%) | 1 ligoje |
| IFT80intraflagellar transport 80 | Dažnai (30–79%) | 1 ligoje |
| IGF2insulin like growth factor 2 | Dažnai (30–79%) | 3 ligose |
| IL11RAinterleukin 11 receptor subunit alpha | Dažnai (30–79%) | 1 ligoje |
| INTS1integrator complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| IPO8importin 8 | Dažnai (30–79%) | 1 ligoje |
| KAT6Alysine acetyltransferase 6A | Dažnai (30–79%) | 1 ligoje |
| KIAA0586KIAA0586 | Dažnai (30–79%) | 1 ligoje |
| KIAA0753KIAA0753 | Dažnai (30–79%) | 3 ligose |
| KIDINS220kinase D interacting substrate 220 | Dažnai (30–79%) | 1 ligoje |
| KYNUkynureninase | Dažnai (30–79%) | 1 ligoje |
| LIFRLIF receptor subunit alpha | Dažnai (30–79%) | 1 ligoje |
| LRRC7leucine rich repeat containing 7 | Dažnai (30–79%) | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Dažnai (30–79%) | 1 ligoje |
| MAP2K2mitogen-activated protein kinase kinase 2 | Dažnai (30–79%) | 1 ligoje |
| MITFmelanocyte inducing transcription factor | Dažnai (30–79%) | 1 ligoje |
| MTORmechanistic target of rapamycin kinase | Dažnai (30–79%) | 2 ligose |
| NCAPG2non-SMC condensin II complex subunit G2 | Dažnai (30–79%) | 1 ligoje |
| NEU1neuraminidase 1 | Dažnai (30–79%) | 1 ligoje |
| NFIAnuclear factor I A | Dažnai (30–79%) | 1 ligoje |
| NFIXnuclear factor I X | Dažnai (30–79%) | 2 ligose |
| NONOnon-POU domain containing octamer binding | Dažnai (30–79%) | 2 ligose |
| NPR2natriuretic peptide receptor 2 | Dažnai (30–79%) | 2 ligose |
| NXNnucleoredoxin | Dažnai (30–79%) | 2 ligose |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| OSGEPO-sialoglycoprotein endopeptidase | Dažnai (30–79%) | 1 ligoje |
| PDE4Dphosphodiesterase 4D | Dažnai (30–79%) | 2 ligose |
| PDE6Dphosphodiesterase 6D | Dažnai (30–79%) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Dažnai (30–79%) | 1 ligoje |
| POLD3DNA polymerase delta 3, accessory subunit | Dažnai (30–79%) | 1 ligoje |
| POLR1BRNA polymerase I subunit B | Dažnai (30–79%) | 1 ligoje |
| POLR1CRNA polymerase I and III subunit C | Dažnai (30–79%) | 1 ligoje |
| POLR1DRNA polymerase I and III subunit D | Dažnai (30–79%) | 1 ligoje |
| PRIM1DNA primase subunit 1 | Dažnai (30–79%) | 1 ligoje |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Dažnai (30–79%) | 1 ligoje |
| PRKD1protein kinase D1 | Dažnai (30–79%) | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Dažnai (30–79%) | 2 ligose |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Dažnai (30–79%) | 2 ligose |
| SKISKI proto-oncogene | Dažnai (30–79%) | 3 ligose |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Dažnai (30–79%) | 1 ligoje |
| SNX14sorting nexin 14 | Dažnai (30–79%) | 1 ligoje |
| SOX5SRY-box transcription factor 5 | Dažnai (30–79%) | 2 ligose |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Dažnai (30–79%) | 1 ligoje |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Dažnai (30–79%) | 1 ligoje |
| TBX4T-box transcription factor 4 | Dažnai (30–79%) | 1 ligoje |
| TCOF1treacle ribosome biogenesis factor 1 | Dažnai (30–79%) | 1 ligoje |
| TCTN3tectonic family member 3 | Dažnai (30–79%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Dažnai (30–79%) | 2 ligose |
| TMEM231transmembrane protein 231 | Dažnai (30–79%) | 1 ligoje |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Dažnai (30–79%) | 1 ligoje |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Dažnai (30–79%) | 1 ligoje |
| TRIOtrio Rho guanine nucleotide exchange factor | Dažnai (30–79%) | 1 ligoje |
| TWIST1twist family bHLH transcription factor 1 | Dažnai (30–79%) | 2 ligose |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Dažnai (30–79%) | 1 ligoje |
| WNT5AWnt family member 5A | Dažnai (30–79%) | 2 ligose |
| ZIC1Zic family zinc finger 1 | Dažnai (30–79%) | 1 ligoje |
| ZIC4Zic family zinc finger 4 | Dažnai (30–79%) | 1 ligoje |
| ZNF148zinc finger protein 148 | Dažnai (30–79%) | 1 ligoje |
| ACP5acid phosphatase 5, tartrate resistant | Kartais (5–29%) | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Kartais (5–29%) | 1 ligoje |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Kartais (5–29%) | 2 ligose |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Kartais (5–29%) | 1 ligoje |
| ATAD3AATPase family AAA domain containing 3A | Kartais (5–29%) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Kartais (5–29%) | 1 ligoje |
| BAP1BRCA1 associated deubiquitinase 1 | Kartais (5–29%) | 1 ligoje |
| BMPR1Abone morphogenetic protein receptor type 1A | Kartais (5–29%) | 1 ligoje |
| BRCA1BRCA1 DNA repair associated | Kartais (5–29%) | 1 ligoje |
| BRCA2BRCA2 DNA repair associated | Kartais (5–29%) | 1 ligoje |
| BRIP1BRCA1 interacting DNA helicase 1 | Kartais (5–29%) | 1 ligoje |
| BRWD3bromodomain and WD repeat domain containing 3 | Kartais (5–29%) | 1 ligoje |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Kartais (5–29%) | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Kartais (5–29%) | 1 ligoje |
| BUB3BUB3 mitotic checkpoint protein | Kartais (5–29%) | 1 ligoje |
| CASZ1castor zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| CDC42BPBCDC42 binding protein kinase beta | Kartais (5–29%) | 1 ligoje |
| CHD5chromodomain helicase DNA binding protein 5 | Kartais (5–29%) | 1 ligoje |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Kartais (5–29%) | 1 ligoje |
| CLCN3Cl-/H+ antiporter 3 | Kartais (5–29%) | 1 ligoje |
| CNTNAP2contactin associated protein 2 | Kartais (5–29%) | 1 ligoje |
| COL9A2collagen type IX alpha 2 chain | Kartais (5–29%) | 1 ligoje |
| CUX1cut like homeobox 1 | Kartais (5–29%) | 1 ligoje |
| DDX6DEAD-box helicase 6 | Kartais (5–29%) | 1 ligoje |
| DEAF1DEAF1 transcription factor | Kartais (5–29%) | 1 ligoje |
| DHCR2424-dehydrocholesterol reductase | Kartais (5–29%) | 2 ligose |
| DLK1delta like non-canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| EIF5Aeukaryotic translation initiation factor 5A | Kartais (5–29%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Kartais (5–29%) | 1 ligoje |
| FAAP100FA core complex associated protein 100 | Kartais (5–29%) | 1 ligoje |
| FANCAFA complementation group A | Kartais (5–29%) | 1 ligoje |
| FANCBFA complementation group B | Kartais (5–29%) | 1 ligoje |
| FANCCFA complementation group C | Kartais (5–29%) | 1 ligoje |
| FANCD2FA complementation group D2 | Kartais (5–29%) | 1 ligoje |
| FANCEFA complementation group E | Kartais (5–29%) | 1 ligoje |
| FANCFFA complementation group F | Kartais (5–29%) | 1 ligoje |
| FANCGFA complementation group G | Kartais (5–29%) | 1 ligoje |
| FANCIFA complementation group I | Kartais (5–29%) | 1 ligoje |
| FANCLFA complementation group L | Kartais (5–29%) | 1 ligoje |
| FANCMFA complementation group M | Kartais (5–29%) | 1 ligoje |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| FLNBfilamin B | Kartais (5–29%) | 5 ligose |
| FRYLFRY like transcription coactivator | Kartais (5–29%) | 1 ligoje |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Kartais (5–29%) | 1 ligoje |
| GATAD2BGATA zinc finger domain containing 2B | Kartais (5–29%) | 1 ligoje |
| GLB1galactosidase beta 1 | Kartais (5–29%) | 2 ligose |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| GRB10growth factor receptor bound protein 10 | Kartais (5–29%) | 1 ligoje |
| H3-3BH3.3 histone B | Kartais (5–29%) | 1 ligoje |
| HBA1hemoglobin subunit alpha 1 | Kartais (5–29%) | 1 ligoje |
| HBA2hemoglobin subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| HBBhemoglobin subunit beta | Kartais (5–29%) | 2 ligose |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Kartais (5–29%) | 1 ligoje |
| HK1hexokinase 1 | Kartais (5–29%) | 1 ligoje |
| HMGA2high mobility group AT-hook 2 | Kartais (5–29%) | 2 ligose |
| HMOX1heme oxygenase 1 | Kartais (5–29%) | 1 ligoje |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Kartais (5–29%) | 1 ligoje |
| HOXD13homeobox D13 | Kartais (5–29%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Kartais (5–29%) | 1 ligoje |
| JARID2jumonji and AT-rich interaction domain containing 2 | Kartais (5–29%) | 1 ligoje |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Kartais (5–29%) | 1 ligoje |
| KCTD1potassium channel tetramerization domain containing 1 | Kartais (5–29%) | 1 ligoje |
| KDM5Alysine demethylase 5A | Kartais (5–29%) | 1 ligoje |
| KMT2Blysine methyltransferase 2B | Kartais (5–29%) | 1 ligoje |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Kartais (5–29%) | 1 ligoje |
| LARS1leucyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| LEMD3LEM domain containing 3 | Kartais (5–29%) | 1 ligoje |
| LRP5LDL receptor related protein 5 | Kartais (5–29%) | 1 ligoje |
| LUZP1leucine zipper protein 1 | Kartais (5–29%) | 1 ligoje |
| MAD2L2mitotic arrest deficient 2 like 2 | Kartais (5–29%) | 1 ligoje |
| MADDMAP kinase activating death domain | Kartais (5–29%) | 1 ligoje |
| MAN1B1mannosidase alpha class 1B member 1 | Kartais (5–29%) | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Kartais (5–29%) | 1 ligoje |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Kartais (5–29%) | 1 ligoje |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Kartais (5–29%) | 1 ligoje |
| MED16mediator complex subunit 16 | Kartais (5–29%) | 1 ligoje |
| MED27mediator complex subunit 27 | Kartais (5–29%) | 1 ligoje |
| MEG3maternally expressed 3 | Kartais (5–29%) | 1 ligoje |
| MEGF8multiple EGF like domains 8 | Kartais (5–29%) | 1 ligoje |
| MMP23Bmatrix metallopeptidase 23B | Kartais (5–29%) | 1 ligoje |
| MSL2MSL complex subunit 2 | Kartais (5–29%) | 1 ligoje |
| MTX2metaxin 2 | Kartais (5–29%) | 1 ligoje |
| MYH3myosin heavy chain 3 | Kartais (5–29%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Kartais (5–29%) | 1 ligoje |
| NKX6-2NK6 homeobox 2 | Kartais (5–29%) | 1 ligoje |
| NTNG2netrin G2 | Kartais (5–29%) | 1 ligoje |
| PALB2partner and localizer of BRCA2 | Kartais (5–29%) | 1 ligoje |
| PDGFRBplatelet derived growth factor receptor beta | Kartais (5–29%) | 1 ligoje |
| PDPNpodoplanin | Kartais (5–29%) | 1 ligoje |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Kartais (5–29%) | 1 ligoje |
| PLAG1PLAG1 zinc finger | Kartais (5–29%) | 1 ligoje |
| PLCH1phospholipase C eta 1 | Kartais (5–29%) | 1 ligoje |
| PNPLA6patatin like domain 6, lysophospholipase | Kartais (5–29%) | 1 ligoje |
| PORcytochrome p450 oxidoreductase | Kartais (5–29%) | 3 ligose |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Kartais (5–29%) | 1 ligoje |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PRDM16PR/SET domain 16 | Kartais (5–29%) | 1 ligoje |
| PRDM5PR/SET domain 5 | Kartais (5–29%) | 1 ligoje |
| PRKCZprotein kinase C zeta | Kartais (5–29%) | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Kartais (5–29%) | 1 ligoje |
| PTCH2patched 2 | Kartais (5–29%) | 1 ligoje |
| PTENphosphatase and tensin homolog | Kartais (5–29%) | 4 ligose |
| PTHLHparathyroid hormone like hormone | Kartais (5–29%) | 1 ligoje |
| PURApurine rich element binding protein A | Kartais (5–29%) | 1 ligoje |
| RAD51RAD51 recombinase | Kartais (5–29%) | 1 ligoje |
| RAD51CRAD51 paralog C | Kartais (5–29%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 3 ligose |
| RFWD3ring finger and WD repeat domain 3 | Kartais (5–29%) | 1 ligoje |
| RFX7regulatory factor X7 | Kartais (5–29%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Kartais (5–29%) | 1 ligoje |
| SALL4spalt like transcription factor 4 | Kartais (5–29%) | 1 ligoje |
| SATB2SATB homeobox 2 | Kartais (5–29%) | 2 ligose |
| SCNM1sodium channel modifier 1 | Kartais (5–29%) | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Kartais (5–29%) | 1 ligoje |
| SLX4SLX4 structure-specific endonuclease subunit | Kartais (5–29%) | 1 ligoje |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Kartais (5–29%) | 1 ligoje |
| SMC3structural maintenance of chromosomes 3 | Kartais (5–29%) | 1 ligoje |
| SMC5structural maintenance of chromosomes 5 | Kartais (5–29%) | 1 ligoje |
| SMG8SMG8 nonsense mediated mRNA decay factor | Kartais (5–29%) | 1 ligoje |
| SONSON DNA and RNA binding protein | Kartais (5–29%) | 2 ligose |
| SOX9SRY-box transcription factor 9 | Kartais (5–29%) | 1 ligoje |
| SPENspen family transcriptional repressor | Kartais (5–29%) | 2 ligose |
| SPOPspeckle type BTB/POZ protein | Kartais (5–29%) | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Kartais (5–29%) | 1 ligoje |
| TBCBtubulin folding cofactor B | Kartais (5–29%) | 1 ligoje |
| TBCDtubulin folding cofactor D | Kartais (5–29%) | 1 ligoje |
| TGFB1transforming growth factor beta 1 | Kartais (5–29%) | 1 ligoje |
| TONSLtonsoku like, DNA repair protein | Kartais (5–29%) | 2 ligose |
| TRIP13thyroid hormone receptor interactor 13 | Kartais (5–29%) | 1 ligoje |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Kartais (5–29%) | 1 ligoje |
| UBE2Tubiquitin conjugating enzyme E2 T | Kartais (5–29%) | 1 ligoje |
| UBE4Bubiquitination factor E4B | Kartais (5–29%) | 1 ligoje |
| UGP2UDP-glucose pyrophosphorylase 2 | Kartais (5–29%) | 1 ligoje |
| WDR83OSWD repeat domain 83 opposite strand | Kartais (5–29%) | 1 ligoje |
| WWOXWW domain containing oxidoreductase | Kartais (5–29%) | 1 ligoje |
| XRCC2X-ray repair cross complementing 2 | Kartais (5–29%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Kartais (5–29%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| ZNF469zinc finger protein 469 | Kartais (5–29%) | 1 ligoje |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Kartais (5–29%) | 1 ligoje |
| EBF3EBF transcription factor 3 | Retai (1–4 %) | 1 ligoje |
| EPB41erythrocyte membrane protein band 4.1 | Retai (1–4 %) | 1 ligoje |
| GYPCglycophorin C (Gerbich blood group) | Retai (1–4 %) | 1 ligoje |
| H3-3AH3.3 histone A | Retai (1–4 %) | 1 ligoje |
| HEPACAMhepatic and glial cell adhesion molecule | Retai (1–4 %) | 1 ligoje |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Retai (1–4 %) | 1 ligoje |
| SPTA1spectrin alpha, erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| SPTBspectrin beta, erythrocytic | Retai (1–4 %) | 1 ligoje |
| ACANaggrecan | Neužfiksuota | 1 ligoje |
| ACOX1acyl-CoA oxidase 1 | Neužfiksuota | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Neužfiksuota | 1 ligoje |
| ALPLalkaline phosphatase, biomineralization associated | Neužfiksuota | 1 ligoje |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Neužfiksuota | 1 ligoje |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Neužfiksuota | 1 ligoje |
| B9D2B9 domain containing 2 | Neužfiksuota | 1 ligoje |
| C12orf57chromosome 12 open reading frame 57 | Neužfiksuota | 1 ligoje |
| CBLCbl proto-oncogene | Neužfiksuota | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Neužfiksuota | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Neužfiksuota | 1 ligoje |
| CTNScystinosin, lysosomal cystine transporter | Neužfiksuota | 1 ligoje |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Neužfiksuota | 1 ligoje |
| DDR2discoidin domain receptor tyrosine kinase 2 | Neužfiksuota | 1 ligoje |
| DENND5ADENN domain containing 5A | Neužfiksuota | 1 ligoje |
| EDARectodysplasin A receptor | Neužfiksuota | 1 ligoje |
| EDARADDEDAR associated via death domain | Neužfiksuota | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Neužfiksuota | 1 ligoje |
| FBN2fibrillin 2 | Neužfiksuota | 1 ligoje |
| FUCA1alpha-L-fucosidase 1 | Neužfiksuota | 1 ligoje |
| GJA1gap junction protein alpha 1 | Neužfiksuota | 1 ligoje |
| GJA5gap junction protein alpha 5 | Neužfiksuota | 1 ligoje |
| GJA8gap junction protein alpha 8 | Neužfiksuota | 1 ligoje |
| GKglycerol kinase | Neužfiksuota | 1 ligoje |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Neužfiksuota | 1 ligoje |
| INTUinturned planar cell polarity protein | Neužfiksuota | 1 ligoje |
| KATNIPkatanin interacting protein | Neužfiksuota | 1 ligoje |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Neužfiksuota | 1 ligoje |
| KDM1Alysine demethylase 1A | Neužfiksuota | 1 ligoje |
| MAGEL2MAGE family member L2 | Neužfiksuota | 1 ligoje |
| MAN2B1mannosidase alpha class 2B member 1 | Neužfiksuota | 1 ligoje |
| MBD5methyl-CpG binding domain protein 5 | Neužfiksuota | 1 ligoje |
| MED12mediator complex subunit 12 | Neužfiksuota | 2 ligose |
| MED13Lmediator complex subunit 13L | Neužfiksuota | 1 ligoje |
| MID1midline 1 | Neužfiksuota | 1 ligoje |
| MMP2matrix metallopeptidase 2 | Neužfiksuota | 1 ligoje |
| MOCS1molybdenum cofactor synthesis 1 | Neužfiksuota | 1 ligoje |
| MOCS2molybdenum cofactor synthesis 2 | Neužfiksuota | 1 ligoje |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Neužfiksuota | 1 ligoje |
| MSX2msh homeobox 2 | Neužfiksuota | 1 ligoje |
| NFKBIANFKB inhibitor alpha | Neužfiksuota | 1 ligoje |
| OPHN1oligophrenin 1 | Neužfiksuota | 1 ligoje |
| ORC1origin recognition complex subunit 1 | Neužfiksuota | 1 ligoje |
| PAM16presequence translocase associated motor 16 | Neužfiksuota | 1 ligoje |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Neužfiksuota | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Neužfiksuota | 1 ligoje |
| PEX7peroxisomal biogenesis factor 7 | Neužfiksuota | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Neužfiksuota | 1 ligoje |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Neužfiksuota | 1 ligoje |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Neužfiksuota | 1 ligoje |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Neužfiksuota | 1 ligoje |
| PLA2G6phospholipase A2 group VI | Neužfiksuota | 1 ligoje |
| POU1F1POU class 1 homeobox 1 | Neužfiksuota | 1 ligoje |
| PRMT7protein arginine methyltransferase 7 | Neužfiksuota | 1 ligoje |
| PTDSS1phosphatidylserine synthase 1 | Neužfiksuota | 1 ligoje |
| PYCR1pyrroline-5-carboxylate reductase 1 | Neužfiksuota | 1 ligoje |
| SIX6SIX homeobox 6 | Neužfiksuota | 1 ligoje |
| SKIC3SKI3 subunit of superkiller complex | Neužfiksuota | 1 ligoje |
| SLC34A3solute carrier family 34 member 3 | Neužfiksuota | 1 ligoje |
| SLC39A13solute carrier family 39 member 13 | Neužfiksuota | 1 ligoje |
| SNX10sorting nexin 10 | Neužfiksuota | 1 ligoje |
| SOX2SRY-box transcription factor 2 | Neužfiksuota | 1 ligoje |
| SPRTNSprT-like N-terminal domain | Neužfiksuota | 1 ligoje |
| STAG2STAG2 cohesin complex component | Neužfiksuota | 1 ligoje |
| STAT3signal transducer and activator of transcription 3 | Neužfiksuota | 1 ligoje |
| TBCEtubulin folding cofactor E | Neužfiksuota | 1 ligoje |
| TCF20transcription factor 20 | Neužfiksuota | 1 ligoje |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Neužfiksuota | 1 ligoje |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Neužfiksuota | 1 ligoje |
| UNC80unc-80 subunit of NALCN channel complex | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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