Cecha
Frontal bossing
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Podsumowanie
- Znana także jako
- Frontal protuberance, Skull bossing
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Frontal bossing, and the rest of your genome, with one test.
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Zamawiam Genome Test455 genów powiązanych z Frontal bossing
Zmiany w tych genach powodują rzadkie choroby, w których występuje Frontal bossing. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ADKadenosine kinase | Zawsze | W 1 chorobie |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Zawsze | W 1 chorobie |
| ANKHANKH inorganic pyrophosphate transport regulator | Zawsze | W 1 chorobie |
| ANTXR1ANTXR cell adhesion molecule 1 | Zawsze | W 2 chorobach |
| ARID2AT-rich interaction domain 2 | Zawsze | W 1 chorobie |
| AXIN1axin 1 | Zawsze | W 1 chorobie |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Zawsze | W 1 chorobie |
| CEP57centrosomal protein 57 | Zawsze | W 2 chorobach |
| CILK1ciliogenesis associated kinase 1 | Zawsze | W 1 chorobie |
| COL11A2collagen type XI alpha 2 chain | Zawsze | W 1 chorobie |
| COL2A1collagen type II alpha 1 chain | Zawsze | W 1 chorobie |
| COX4I1cytochrome c oxidase subunit 4I1 | Zawsze | W 1 chorobie |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Zawsze | W 1 chorobie |
| CUL7cullin 7 | Zawsze | W 2 chorobach |
| DDX59DEAD-box helicase 59 | Zawsze | W 2 chorobach |
| DICER1dicer 1, ribonuclease III | Zawsze | W 1 chorobie |
| DNA2DNA replication helicase/nuclease 2 | Zawsze | W 1 chorobie |
| DSEdermatan sulfate epimerase | Zawsze | W 1 chorobie |
| DVL1dishevelled segment polarity protein 1 | Zawsze | W 3 chorobach |
| ERI1exoribonuclease 1 | Zawsze | W 1 chorobie |
| EXTL3exostosin like glycosyltransferase 3 | Zawsze | W 2 chorobach |
| FBXL4F-box and leucine rich repeat protein 4 | Zawsze | W 1 chorobie |
| FGFR2fibroblast growth factor receptor 2 | Zawsze | W 6 chorobach |
| FGFR3fibroblast growth factor receptor 3 | Zawsze | W 9 chorobach |
| GMNNgeminin DNA replication inhibitor | Zawsze | W 1 chorobie |
| GNB2G protein subunit beta 2 | Zawsze | W 1 chorobie |
| GNSglucosamine (N-acetyl)-6-sulfatase | Zawsze | W 1 chorobie |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Zawsze | W 1 chorobie |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Zawsze | W 1 chorobie |
| IDUAalpha-L-iduronidase | Zawsze | W 2 chorobach |
| IFT140intraflagellar transport 140 | Zawsze | W 2 chorobach |
| IFT56intraflagellar transport 56 | Zawsze | W 1 chorobie |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Zawsze | W 1 chorobie |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Zawsze | W 1 chorobie |
| ITCHitchy E3 ubiquitin protein ligase | Zawsze | W 2 chorobach |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Zawsze | W 1 chorobie |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Zawsze | W 1 chorobie |
| JAG1jagged canonical Notch ligand 1 | Zawsze | W 1 chorobie |
| KDM6Blysine demethylase 6B | Zawsze | W 1 chorobie |
| KIF7kinesin family member 7 | Zawsze | W 4 chorobach |
Pokaż jeszcze 415 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| KLF1KLF transcription factor 1 | Zawsze | W 1 chorobie |
| KPTNkaptin, actin binding protein | Zawsze | W 2 chorobach |
| LBRlamin B receptor | Zawsze | W 2 chorobach |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Zawsze | W 1 chorobie |
| NSD1nuclear receptor binding SET domain protein 1 | Zawsze | W 1 chorobie |
| OBSL1obscurin like cytoskeletal adaptor 1 | Zawsze | W 2 chorobach |
| PAK1p21 (RAC1) activated kinase 1 | Zawsze | W 1 chorobie |
| PHEXphosphate regulating endopeptidase X-linked | Zawsze | W 2 chorobach |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Zawsze | W 1 chorobie |
| PTCH1patched 1 | Zawsze | W 3 chorobach |
| RNPC3RNA binding region (RNP1, RRM) containing 3 | Zawsze | W 1 chorobie |
| RNU2-2RNA, U2 small nuclear 2 | Zawsze | W 1 chorobie |
| RNU5B-1RNA, U5B small nuclear 1 | Zawsze | W 1 chorobie |
| RSPRY1ring finger and SPRY domain containing 1 | Zawsze | W 2 chorobach |
| RUNX2RUNX family transcription factor 2 | Zawsze | W 2 chorobach |
| SEC23ASEC23 homolog A, COPII component | Zawsze | W 2 chorobach |
| SEC24DSEC24 homolog D, COPII component | Zawsze | W 2 chorobach |
| SIK3SIK family kinase 3 | Zawsze | W 1 chorobie |
| SOSTsclerostin | Zawsze | W 2 chorobach |
| SPOUT1SPOUT domain containing methyltransferase 1 | Zawsze | W 1 chorobie |
| SUFUSUFU negative regulator of hedgehog signaling | Zawsze | W 3 chorobach |
| TBX15T-box transcription factor 15 | Zawsze | W 2 chorobach |
| TIMM50translocase of inner mitochondrial membrane 50 | Zawsze | W 1 chorobie |
| VDRvitamin D receptor | Zawsze | W 2 chorobach |
| WDR35WD repeat domain 35 | Zawsze | W 3 chorobach |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Zawsze | W 1 chorobie |
| AIPAHR interacting HSP90 co-chaperone | Bardzo często (80–99%) | W 2 chorobach |
| APCAPC regulator of Wnt signaling pathway | Bardzo często (80–99%) | W 1 chorobie |
| B3GALT6beta-1,3-galactosyltransferase 6 | Bardzo często (80–99%) | W 2 chorobach |
| CAMKMTcalmodulin-lysine N-methyltransferase | Bardzo często (80–99%) | W 1 chorobie |
| CCDC22CCC complex scaffolding subunit CCDC22 | Bardzo często (80–99%) | W 1 chorobie |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Bardzo często (80–99%) | W 2 chorobach |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Bardzo często (80–99%) | W 2 chorobach |
| CHD3chromodomain helicase DNA binding protein 3 | Bardzo często (80–99%) | W 1 chorobie |
| CHD6chromodomain helicase DNA binding protein 6 | Bardzo często (80–99%) | W 1 chorobie |
| CLCN7Cl-/H+ antiporter 7 | Bardzo często (80–99%) | W 1 chorobie |
| COG4component of oligomeric golgi complex 4 | Bardzo często (80–99%) | W 1 chorobie |
| CPLX1complexin 1 | Bardzo często (80–99%) | W 1 chorobie |
| CRTAPcartilage associated protein | Bardzo często (80–99%) | W 1 chorobie |
| CTBP1C-terminal binding protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| CTSKcathepsin K | Bardzo często (80–99%) | W 2 chorobach |
| CWC27CWC27 spliceosome associated cyclophilin | Bardzo często (80–99%) | W 2 chorobach |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Bardzo często (80–99%) | W 1 chorobie |
| DPYSL5dihydropyrimidinase like 5 | Bardzo często (80–99%) | W 1 chorobie |
| EFNB1ephrin B1 | Bardzo często (80–99%) | W 2 chorobach |
| GPC6glypican 6 | Bardzo często (80–99%) | W 2 chorobach |
| HDAC6histone deacetylase 6 | Bardzo często (80–99%) | W 2 chorobach |
| HRASHRas proto-oncogene, GTPase | Bardzo często (80–99%) | W 1 chorobie |
| IFT122intraflagellar transport 122 | Bardzo często (80–99%) | W 2 chorobach |
| IFT43intraflagellar transport 43 | Bardzo często (80–99%) | W 2 chorobach |
| IFT52intraflagellar transport 52 | Bardzo często (80–99%) | W 1 chorobie |
| INPPL1inositol polyphosphate phosphatase like 1 | Bardzo często (80–99%) | W 2 chorobach |
| KRASKRas proto-oncogene, GTPase | Bardzo często (80–99%) | W 3 chorobach |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| LRP4LDL receptor related protein 4 | Bardzo często (80–99%) | W 2 chorobach |
| MEN1menin 1 | Bardzo często (80–99%) | W 1 chorobie |
| NELFAnegative elongation factor complex member A | Bardzo często (80–99%) | W 1 chorobie |
| NLRP3NLR family pyrin domain containing 3 | Bardzo często (80–99%) | W 2 chorobach |
| NRASNRAS proto-oncogene, GTPase | Bardzo często (80–99%) | W 1 chorobie |
| NSD2nuclear receptor binding SET domain protein 2 | Bardzo często (80–99%) | W 1 chorobie |
| OFD1OFD1 centriole and centriolar satellite protein | Bardzo często (80–99%) | W 4 chorobach |
| P4HBprolyl 4-hydroxylase subunit beta | Bardzo często (80–99%) | W 2 chorobach |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Bardzo często (80–99%) | W 1 chorobie |
| PCGF2polycomb group ring finger 2 | Bardzo często (80–99%) | W 1 chorobie |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Bardzo często (80–99%) | W 1 chorobie |
| POLEDNA polymerase epsilon, catalytic subunit | Bardzo często (80–99%) | W 2 chorobach |
| POLR3ARNA polymerase III subunit A | Bardzo często (80–99%) | W 2 chorobach |
| PPM1Bprotein phosphatase, Mg2+/Mn2+ dependent 1B | Bardzo często (80–99%) | W 1 chorobie |
| PREPLprolyl endopeptidase like | Bardzo często (80–99%) | W 2 chorobach |
| RAB39BRAB39B, member RAS oncogene family | Bardzo często (80–99%) | W 2 chorobach |
| RAI1retinoic acid induced 1 | Bardzo często (80–99%) | W 1 chorobie |
| RECQL4RecQ like helicase 4 | Bardzo często (80–99%) | W 2 chorobach |
| RNU12RNA, U12 small nuclear | Bardzo często (80–99%) | W 2 chorobach |
| RPS6KA3ribosomal protein S6 kinase A3 | Bardzo często (80–99%) | W 3 chorobach |
| SETBP1SET binding protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| SIX2SIX homeobox 2 | Bardzo często (80–99%) | W 1 chorobie |
| SLC26A2solute carrier family 26 member 2 | Bardzo często (80–99%) | W 1 chorobie |
| SLC3A1solute carrier family 3 member 1 | Bardzo często (80–99%) | W 2 chorobach |
| SMOC1SPARC related modular calcium binding 1 | Bardzo często (80–99%) | W 2 chorobach |
| SP7Sp7 transcription factor | Bardzo często (80–99%) | W 1 chorobie |
| TBC1D7TBC1 domain family member 7 | Bardzo często (80–99%) | W 1 chorobie |
| TRIM37tripartite motif containing 37 | Bardzo często (80–99%) | W 1 chorobie |
| TRIP11thyroid hormone receptor interactor 11 | Bardzo często (80–99%) | W 2 chorobach |
| TRPS1transcriptional repressor GATA binding 1 | Bardzo często (80–99%) | W 1 chorobie |
| VPS35LVPS35 endosomal protein sorting factor like | Bardzo często (80–99%) | W 1 chorobie |
| WASHC5WASH complex subunit 5 | Bardzo często (80–99%) | W 1 chorobie |
| WDR19WD repeat domain 19 | Bardzo często (80–99%) | W 2 chorobach |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Bardzo często (80–99%) | W 1 chorobie |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Często (30–79%) | W 1 chorobie |
| AGO2argonaute RISC catalytic component 2 | Często (30–79%) | W 1 chorobie |
| ALX4ALX homeobox 4 | Często (30–79%) | W 2 chorobach |
| AMER1APC membrane recruitment protein 1 | Często (30–79%) | W 2 chorobach |
| ANKRD11ankyrin repeat domain 11 | Często (30–79%) | W 1 chorobie |
| ARID1BAT-rich interaction domain 1B | Często (30–79%) | W 1 chorobie |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Często (30–79%) | W 1 chorobie |
| B3GLCTbeta 3-glucosyltransferase | Często (30–79%) | W 2 chorobach |
| B9D1B9 domain containing 1 | Często (30–79%) | W 1 chorobie |
| BGNbiglycan | Często (30–79%) | W 1 chorobie |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Często (30–79%) | W 1 chorobie |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Często (30–79%) | W 1 chorobie |
| CDH2cadherin 2 | Często (30–79%) | W 1 chorobie |
| CHD1chromodomain helicase DNA binding protein 1 | Często (30–79%) | W 2 chorobach |
| CHST3carbohydrate sulfotransferase 3 | Często (30–79%) | W 1 chorobie |
| CKAP2Lcytoskeleton associated protein 2L | Często (30–79%) | W 1 chorobie |
| COL11A1collagen type XI alpha 1 chain | Często (30–79%) | W 3 chorobach |
| COL1A1collagen type I alpha 1 chain | Często (30–79%) | W 2 chorobach |
| COL1A2collagen type I alpha 2 chain | Często (30–79%) | W 2 chorobach |
| COX5Acytochrome c oxidase subunit 5A | Często (30–79%) | W 1 chorobie |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Często (30–79%) | W 1 chorobie |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Często (30–79%) | W 1 chorobie |
| CSPP1centrosome and spindle pole associated protein 1 | Często (30–79%) | W 1 chorobie |
| CTNNB1catenin beta 1 | Często (30–79%) | W 1 chorobie |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Często (30–79%) | W 2 chorobach |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Często (30–79%) | W 2 chorobach |
| DLX3distal-less homeobox 3 | Często (30–79%) | W 2 chorobach |
| DLX5distal-less homeobox 5 | Często (30–79%) | W 1 chorobie |
| DVL3dishevelled segment polarity protein 3 | Często (30–79%) | W 2 chorobach |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Często (30–79%) | W 1 chorobie |
| DYNC2I1dynein 2 intermediate chain 1 | Często (30–79%) | W 1 chorobie |
| DYNC2I2dynein 2 intermediate chain 2 | Często (30–79%) | W 1 chorobie |
| EBPEBP cholestenol delta-isomerase | Często (30–79%) | W 2 chorobach |
| EDAectodysplasin A | Często (30–79%) | W 2 chorobach |
| EDA2Rectodysplasin A2 receptor | Często (30–79%) | W 1 chorobie |
| EMC10ER membrane protein complex subunit 10 | Często (30–79%) | W 1 chorobie |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Często (30–79%) | W 1 chorobie |
| FAM149B1family with sequence similarity 149 member B1 | Często (30–79%) | W 1 chorobie |
| FAM177A1family with sequence similarity 177 member A1 | Często (30–79%) | W 1 chorobie |
| FBN1fibrillin 1 | Często (30–79%) | W 1 chorobie |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Często (30–79%) | W 1 chorobie |
| FGFR1fibroblast growth factor receptor 1 | Często (30–79%) | W 1 chorobie |
| FHfumarate hydratase | Często (30–79%) | W 2 chorobach |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Często (30–79%) | W 1 chorobie |
| FLNAfilamin A | Często (30–79%) | W 3 chorobach |
| FMR1fragile X messenger ribonucleoprotein 1 | Często (30–79%) | W 1 chorobie |
| FZD2frizzled class receptor 2 | Często (30–79%) | W 3 chorobach |
| GLI3GLI family zinc finger 3 | Często (30–79%) | W 2 chorobach |
| GPR101G protein-coupled receptor 101 | Często (30–79%) | W 1 chorobie |
| HDAC4histone deacetylase 4 | Często (30–79%) | W 1 chorobie |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Często (30–79%) | W 1 chorobie |
| HYAL2hyaluronidase 2 | Często (30–79%) | W 1 chorobie |
| IFT80intraflagellar transport 80 | Często (30–79%) | W 1 chorobie |
| IGF2insulin like growth factor 2 | Często (30–79%) | W 3 chorobach |
| IL11RAinterleukin 11 receptor subunit alpha | Często (30–79%) | W 1 chorobie |
| INTS1integrator complex subunit 1 | Często (30–79%) | W 1 chorobie |
| IPO8importin 8 | Często (30–79%) | W 1 chorobie |
| KAT6Alysine acetyltransferase 6A | Często (30–79%) | W 1 chorobie |
| KIAA0586KIAA0586 | Często (30–79%) | W 1 chorobie |
| KIAA0753KIAA0753 | Często (30–79%) | W 3 chorobach |
| KIDINS220kinase D interacting substrate 220 | Często (30–79%) | W 1 chorobie |
| KYNUkynureninase | Często (30–79%) | W 1 chorobie |
| LIFRLIF receptor subunit alpha | Często (30–79%) | W 1 chorobie |
| LRRC7leucine rich repeat containing 7 | Często (30–79%) | W 1 chorobie |
| MAP2K1mitogen-activated protein kinase kinase 1 | Często (30–79%) | W 1 chorobie |
| MAP2K2mitogen-activated protein kinase kinase 2 | Często (30–79%) | W 1 chorobie |
| MITFmelanocyte inducing transcription factor | Często (30–79%) | W 1 chorobie |
| MTORmechanistic target of rapamycin kinase | Często (30–79%) | W 2 chorobach |
| NCAPG2non-SMC condensin II complex subunit G2 | Często (30–79%) | W 1 chorobie |
| NEU1neuraminidase 1 | Często (30–79%) | W 1 chorobie |
| NFIAnuclear factor I A | Często (30–79%) | W 1 chorobie |
| NFIXnuclear factor I X | Często (30–79%) | W 2 chorobach |
| NONOnon-POU domain containing octamer binding | Często (30–79%) | W 2 chorobach |
| NPR2natriuretic peptide receptor 2 | Często (30–79%) | W 2 chorobach |
| NXNnucleoredoxin | Często (30–79%) | W 2 chorobach |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Często (30–79%) | W 1 chorobie |
| OSGEPO-sialoglycoprotein endopeptidase | Często (30–79%) | W 1 chorobie |
| PDE4Dphosphodiesterase 4D | Często (30–79%) | W 2 chorobach |
| PDE6Dphosphodiesterase 6D | Często (30–79%) | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Często (30–79%) | W 1 chorobie |
| POLD3DNA polymerase delta 3, accessory subunit | Często (30–79%) | W 1 chorobie |
| POLR1BRNA polymerase I subunit B | Często (30–79%) | W 1 chorobie |
| POLR1CRNA polymerase I and III subunit C | Często (30–79%) | W 1 chorobie |
| POLR1DRNA polymerase I and III subunit D | Często (30–79%) | W 1 chorobie |
| PRIM1DNA primase subunit 1 | Często (30–79%) | W 1 chorobie |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Często (30–79%) | W 1 chorobie |
| PRKD1protein kinase D1 | Często (30–79%) | W 1 chorobie |
| ROR2ROR family WNT receptor 2 | Często (30–79%) | W 2 chorobach |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Często (30–79%) | W 2 chorobach |
| SKISKI proto-oncogene | Często (30–79%) | W 3 chorobach |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Często (30–79%) | W 1 chorobie |
| SNX14sorting nexin 14 | Często (30–79%) | W 1 chorobie |
| SOX5SRY-box transcription factor 5 | Często (30–79%) | W 2 chorobach |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Często (30–79%) | W 1 chorobie |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Często (30–79%) | W 1 chorobie |
| TBX4T-box transcription factor 4 | Często (30–79%) | W 1 chorobie |
| TCOF1treacle ribosome biogenesis factor 1 | Często (30–79%) | W 1 chorobie |
| TCTN3tectonic family member 3 | Często (30–79%) | W 1 chorobie |
| TMEM216transmembrane protein 216 | Często (30–79%) | W 2 chorobach |
| TMEM231transmembrane protein 231 | Często (30–79%) | W 1 chorobie |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Często (30–79%) | W 1 chorobie |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Często (30–79%) | W 1 chorobie |
| TRIOtrio Rho guanine nucleotide exchange factor | Często (30–79%) | W 1 chorobie |
| TWIST1twist family bHLH transcription factor 1 | Często (30–79%) | W 2 chorobach |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Często (30–79%) | W 1 chorobie |
| WNT5AWnt family member 5A | Często (30–79%) | W 2 chorobach |
| ZIC1Zic family zinc finger 1 | Często (30–79%) | W 1 chorobie |
| ZIC4Zic family zinc finger 4 | Często (30–79%) | W 1 chorobie |
| ZNF148zinc finger protein 148 | Często (30–79%) | W 1 chorobie |
| ACP5acid phosphatase 5, tartrate resistant | Czasami (5–29%) | W 1 chorobie |
| AHDC1AT-hook DNA binding motif containing 1 | Czasami (5–29%) | W 1 chorobie |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Czasami (5–29%) | W 2 chorobach |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Czasami (5–29%) | W 1 chorobie |
| ATAD3AATPase family AAA domain containing 3A | Czasami (5–29%) | W 1 chorobie |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Czasami (5–29%) | W 1 chorobie |
| BAP1BRCA1 associated deubiquitinase 1 | Czasami (5–29%) | W 1 chorobie |
| BMPR1Abone morphogenetic protein receptor type 1A | Czasami (5–29%) | W 1 chorobie |
| BRCA1BRCA1 DNA repair associated | Czasami (5–29%) | W 1 chorobie |
| BRCA2BRCA2 DNA repair associated | Czasami (5–29%) | W 1 chorobie |
| BRIP1BRCA1 interacting DNA helicase 1 | Czasami (5–29%) | W 1 chorobie |
| BRWD3bromodomain and WD repeat domain containing 3 | Czasami (5–29%) | W 1 chorobie |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Czasami (5–29%) | W 1 chorobie |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Czasami (5–29%) | W 1 chorobie |
| BUB3BUB3 mitotic checkpoint protein | Czasami (5–29%) | W 1 chorobie |
| CASZ1castor zinc finger 1 | Czasami (5–29%) | W 1 chorobie |
| CDC42BPBCDC42 binding protein kinase beta | Czasami (5–29%) | W 1 chorobie |
| CHD5chromodomain helicase DNA binding protein 5 | Czasami (5–29%) | W 1 chorobie |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Czasami (5–29%) | W 1 chorobie |
| CLCN3Cl-/H+ antiporter 3 | Czasami (5–29%) | W 1 chorobie |
| CNTNAP2contactin associated protein 2 | Czasami (5–29%) | W 1 chorobie |
| COL9A2collagen type IX alpha 2 chain | Czasami (5–29%) | W 1 chorobie |
| CUX1cut like homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| DDX6DEAD-box helicase 6 | Czasami (5–29%) | W 1 chorobie |
| DEAF1DEAF1 transcription factor | Czasami (5–29%) | W 1 chorobie |
| DHCR2424-dehydrocholesterol reductase | Czasami (5–29%) | W 2 chorobach |
| DLK1delta like non-canonical Notch ligand 1 | Czasami (5–29%) | W 1 chorobie |
| EIF5Aeukaryotic translation initiation factor 5A | Czasami (5–29%) | W 1 chorobie |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| FAAP100FA core complex associated protein 100 | Czasami (5–29%) | W 1 chorobie |
| FANCAFA complementation group A | Czasami (5–29%) | W 1 chorobie |
| FANCBFA complementation group B | Czasami (5–29%) | W 1 chorobie |
| FANCCFA complementation group C | Czasami (5–29%) | W 1 chorobie |
| FANCD2FA complementation group D2 | Czasami (5–29%) | W 1 chorobie |
| FANCEFA complementation group E | Czasami (5–29%) | W 1 chorobie |
| FANCFFA complementation group F | Czasami (5–29%) | W 1 chorobie |
| FANCGFA complementation group G | Czasami (5–29%) | W 1 chorobie |
| FANCIFA complementation group I | Czasami (5–29%) | W 1 chorobie |
| FANCLFA complementation group L | Czasami (5–29%) | W 1 chorobie |
| FANCMFA complementation group M | Czasami (5–29%) | W 1 chorobie |
| FBXO11F-box protein 11 | Czasami (5–29%) | W 1 chorobie |
| FLNBfilamin B | Czasami (5–29%) | W 5 chorobach |
| FRYLFRY like transcription coactivator | Czasami (5–29%) | W 1 chorobie |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Czasami (5–29%) | W 1 chorobie |
| GATAD2BGATA zinc finger domain containing 2B | Czasami (5–29%) | W 1 chorobie |
| GLB1galactosidase beta 1 | Czasami (5–29%) | W 2 chorobach |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| GRB10growth factor receptor bound protein 10 | Czasami (5–29%) | W 1 chorobie |
| H3-3BH3.3 histone B | Czasami (5–29%) | W 1 chorobie |
| HBA1hemoglobin subunit alpha 1 | Czasami (5–29%) | W 1 chorobie |
| HBA2hemoglobin subunit alpha 2 | Czasami (5–29%) | W 1 chorobie |
| HBBhemoglobin subunit beta | Czasami (5–29%) | W 2 chorobach |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Czasami (5–29%) | W 1 chorobie |
| HK1hexokinase 1 | Czasami (5–29%) | W 1 chorobie |
| HMGA2high mobility group AT-hook 2 | Czasami (5–29%) | W 2 chorobach |
| HMOX1heme oxygenase 1 | Czasami (5–29%) | W 1 chorobie |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Czasami (5–29%) | W 1 chorobie |
| HOXD13homeobox D13 | Czasami (5–29%) | W 1 chorobie |
| HSPG2heparan sulfate proteoglycan 2 | Czasami (5–29%) | W 1 chorobie |
| JARID2jumonji and AT-rich interaction domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Czasami (5–29%) | W 1 chorobie |
| KCTD1potassium channel tetramerization domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| KDM5Alysine demethylase 5A | Czasami (5–29%) | W 1 chorobie |
| KMT2Blysine methyltransferase 2B | Czasami (5–29%) | W 1 chorobie |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Czasami (5–29%) | W 1 chorobie |
| LARS1leucyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| LEMD3LEM domain containing 3 | Czasami (5–29%) | W 1 chorobie |
| LRP5LDL receptor related protein 5 | Czasami (5–29%) | W 1 chorobie |
| LUZP1leucine zipper protein 1 | Czasami (5–29%) | W 1 chorobie |
| MAD2L2mitotic arrest deficient 2 like 2 | Czasami (5–29%) | W 1 chorobie |
| MADDMAP kinase activating death domain | Czasami (5–29%) | W 1 chorobie |
| MAN1B1mannosidase alpha class 1B member 1 | Czasami (5–29%) | W 1 chorobie |
| MAU2MAU2 sister chromatid cohesion factor | Czasami (5–29%) | W 1 chorobie |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Czasami (5–29%) | W 1 chorobie |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Czasami (5–29%) | W 1 chorobie |
| MED16mediator complex subunit 16 | Czasami (5–29%) | W 1 chorobie |
| MED27mediator complex subunit 27 | Czasami (5–29%) | W 1 chorobie |
| MEG3maternally expressed 3 | Czasami (5–29%) | W 1 chorobie |
| MEGF8multiple EGF like domains 8 | Czasami (5–29%) | W 1 chorobie |
| MMP23Bmatrix metallopeptidase 23B | Czasami (5–29%) | W 1 chorobie |
| MSL2MSL complex subunit 2 | Czasami (5–29%) | W 1 chorobie |
| MTX2metaxin 2 | Czasami (5–29%) | W 1 chorobie |
| MYH3myosin heavy chain 3 | Czasami (5–29%) | W 1 chorobie |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| NKX6-2NK6 homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| NTNG2netrin G2 | Czasami (5–29%) | W 1 chorobie |
| PALB2partner and localizer of BRCA2 | Czasami (5–29%) | W 1 chorobie |
| PDGFRBplatelet derived growth factor receptor beta | Czasami (5–29%) | W 1 chorobie |
| PDPNpodoplanin | Czasami (5–29%) | W 1 chorobie |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Czasami (5–29%) | W 1 chorobie |
| PLAG1PLAG1 zinc finger | Czasami (5–29%) | W 1 chorobie |
| PLCH1phospholipase C eta 1 | Czasami (5–29%) | W 1 chorobie |
| PNPLA6patatin like domain 6, lysophospholipase | Czasami (5–29%) | W 1 chorobie |
| PORcytochrome p450 oxidoreductase | Czasami (5–29%) | W 3 chorobach |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Czasami (5–29%) | W 1 chorobie |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| PRDM16PR/SET domain 16 | Czasami (5–29%) | W 1 chorobie |
| PRDM5PR/SET domain 5 | Czasami (5–29%) | W 1 chorobie |
| PRKCZprotein kinase C zeta | Czasami (5–29%) | W 1 chorobie |
| PTBP1polypyrimidine tract binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| PTCH2patched 2 | Czasami (5–29%) | W 1 chorobie |
| PTENphosphatase and tensin homolog | Czasami (5–29%) | W 4 chorobach |
| PTHLHparathyroid hormone like hormone | Czasami (5–29%) | W 1 chorobie |
| PURApurine rich element binding protein A | Czasami (5–29%) | W 1 chorobie |
| RAD51RAD51 recombinase | Czasami (5–29%) | W 1 chorobie |
| RAD51CRAD51 paralog C | Czasami (5–29%) | W 1 chorobie |
| REREarginine-glutamic acid dipeptide repeats | Czasami (5–29%) | W 3 chorobach |
| RFWD3ring finger and WD repeat domain 3 | Czasami (5–29%) | W 1 chorobie |
| RFX7regulatory factor X7 | Czasami (5–29%) | W 1 chorobie |
| RTL1retrotransposon Gag like 1 | Czasami (5–29%) | W 1 chorobie |
| SALL4spalt like transcription factor 4 | Czasami (5–29%) | W 1 chorobie |
| SATB2SATB homeobox 2 | Czasami (5–29%) | W 2 chorobach |
| SCNM1sodium channel modifier 1 | Czasami (5–29%) | W 1 chorobie |
| SIN3ASIN3 transcription regulator family member A | Czasami (5–29%) | W 1 chorobie |
| SLX4SLX4 structure-specific endonuclease subunit | Czasami (5–29%) | W 1 chorobie |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Czasami (5–29%) | W 1 chorobie |
| SMC3structural maintenance of chromosomes 3 | Czasami (5–29%) | W 1 chorobie |
| SMC5structural maintenance of chromosomes 5 | Czasami (5–29%) | W 1 chorobie |
| SMG8SMG8 nonsense mediated mRNA decay factor | Czasami (5–29%) | W 1 chorobie |
| SONSON DNA and RNA binding protein | Czasami (5–29%) | W 2 chorobach |
| SOX9SRY-box transcription factor 9 | Czasami (5–29%) | W 1 chorobie |
| SPENspen family transcriptional repressor | Czasami (5–29%) | W 2 chorobach |
| SPOPspeckle type BTB/POZ protein | Czasami (5–29%) | W 1 chorobie |
| TBC1D24TBC1 domain family member 24 | Czasami (5–29%) | W 1 chorobie |
| TBCBtubulin folding cofactor B | Czasami (5–29%) | W 1 chorobie |
| TBCDtubulin folding cofactor D | Czasami (5–29%) | W 1 chorobie |
| TGFB1transforming growth factor beta 1 | Czasami (5–29%) | W 1 chorobie |
| TONSLtonsoku like, DNA repair protein | Czasami (5–29%) | W 2 chorobach |
| TRIP13thyroid hormone receptor interactor 13 | Czasami (5–29%) | W 1 chorobie |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Czasami (5–29%) | W 1 chorobie |
| UBE2Tubiquitin conjugating enzyme E2 T | Czasami (5–29%) | W 1 chorobie |
| UBE4Bubiquitination factor E4B | Czasami (5–29%) | W 1 chorobie |
| UGP2UDP-glucose pyrophosphorylase 2 | Czasami (5–29%) | W 1 chorobie |
| WDR83OSWD repeat domain 83 opposite strand | Czasami (5–29%) | W 1 chorobie |
| WWOXWW domain containing oxidoreductase | Czasami (5–29%) | W 1 chorobie |
| XRCC2X-ray repair cross complementing 2 | Czasami (5–29%) | W 1 chorobie |
| ZEB2zinc finger E-box binding homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| ZFXzinc finger protein X-linked | Czasami (5–29%) | W 1 chorobie |
| ZNF469zinc finger protein 469 | Czasami (5–29%) | W 1 chorobie |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Czasami (5–29%) | W 1 chorobie |
| EBF3EBF transcription factor 3 | Rzadko (1–4%) | W 1 chorobie |
| EPB41erythrocyte membrane protein band 4.1 | Rzadko (1–4%) | W 1 chorobie |
| GYPCglycophorin C (Gerbich blood group) | Rzadko (1–4%) | W 1 chorobie |
| H3-3AH3.3 histone A | Rzadko (1–4%) | W 1 chorobie |
| HEPACAMhepatic and glial cell adhesion molecule | Rzadko (1–4%) | W 1 chorobie |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Rzadko (1–4%) | W 1 chorobie |
| SPTA1spectrin alpha, erythrocytic 1 | Rzadko (1–4%) | W 1 chorobie |
| SPTBspectrin beta, erythrocytic | Rzadko (1–4%) | W 1 chorobie |
| ACANaggrecan | Nie odnotowano | W 1 chorobie |
| ACOX1acyl-CoA oxidase 1 | Nie odnotowano | W 1 chorobie |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Nie odnotowano | W 1 chorobie |
| ALPLalkaline phosphatase, biomineralization associated | Nie odnotowano | W 1 chorobie |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Nie odnotowano | W 1 chorobie |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Nie odnotowano | W 1 chorobie |
| B9D2B9 domain containing 2 | Nie odnotowano | W 1 chorobie |
| C12orf57chromosome 12 open reading frame 57 | Nie odnotowano | W 1 chorobie |
| CBLCbl proto-oncogene | Nie odnotowano | W 1 chorobie |
| CREBBPCREB binding lysine acetyltransferase | Nie odnotowano | W 1 chorobie |
| CRPPACDP-L-ribitol pyrophosphorylase A | Nie odnotowano | W 1 chorobie |
| CTNScystinosin, lysosomal cystine transporter | Nie odnotowano | W 1 chorobie |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Nie odnotowano | W 1 chorobie |
| DDR2discoidin domain receptor tyrosine kinase 2 | Nie odnotowano | W 1 chorobie |
| DENND5ADENN domain containing 5A | Nie odnotowano | W 1 chorobie |
| EDARectodysplasin A receptor | Nie odnotowano | W 1 chorobie |
| EDARADDEDAR associated via death domain | Nie odnotowano | W 1 chorobie |
| EP300EP300 lysine acetyltransferase | Nie odnotowano | W 1 chorobie |
| FBN2fibrillin 2 | Nie odnotowano | W 1 chorobie |
| FUCA1alpha-L-fucosidase 1 | Nie odnotowano | W 1 chorobie |
| GJA1gap junction protein alpha 1 | Nie odnotowano | W 1 chorobie |
| GJA5gap junction protein alpha 5 | Nie odnotowano | W 1 chorobie |
| GJA8gap junction protein alpha 8 | Nie odnotowano | W 1 chorobie |
| GKglycerol kinase | Nie odnotowano | W 1 chorobie |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Nie odnotowano | W 1 chorobie |
| INTUinturned planar cell polarity protein | Nie odnotowano | W 1 chorobie |
| KATNIPkatanin interacting protein | Nie odnotowano | W 1 chorobie |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Nie odnotowano | W 1 chorobie |
| KDM1Alysine demethylase 1A | Nie odnotowano | W 1 chorobie |
| MAGEL2MAGE family member L2 | Nie odnotowano | W 1 chorobie |
| MAN2B1mannosidase alpha class 2B member 1 | Nie odnotowano | W 1 chorobie |
| MBD5methyl-CpG binding domain protein 5 | Nie odnotowano | W 1 chorobie |
| MED12mediator complex subunit 12 | Nie odnotowano | W 2 chorobach |
| MED13Lmediator complex subunit 13L | Nie odnotowano | W 1 chorobie |
| MID1midline 1 | Nie odnotowano | W 1 chorobie |
| MMP2matrix metallopeptidase 2 | Nie odnotowano | W 1 chorobie |
| MOCS1molybdenum cofactor synthesis 1 | Nie odnotowano | W 1 chorobie |
| MOCS2molybdenum cofactor synthesis 2 | Nie odnotowano | W 1 chorobie |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Nie odnotowano | W 1 chorobie |
| MSX2msh homeobox 2 | Nie odnotowano | W 1 chorobie |
| NFKBIANFKB inhibitor alpha | Nie odnotowano | W 1 chorobie |
| OPHN1oligophrenin 1 | Nie odnotowano | W 1 chorobie |
| ORC1origin recognition complex subunit 1 | Nie odnotowano | W 1 chorobie |
| PAM16presequence translocase associated motor 16 | Nie odnotowano | W 1 chorobie |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Nie odnotowano | W 1 chorobie |
| PEX5peroxisomal biogenesis factor 5 | Nie odnotowano | W 1 chorobie |
| PEX7peroxisomal biogenesis factor 7 | Nie odnotowano | W 1 chorobie |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Nie odnotowano | W 1 chorobie |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Nie odnotowano | W 1 chorobie |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Nie odnotowano | W 1 chorobie |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Nie odnotowano | W 1 chorobie |
| PLA2G6phospholipase A2 group VI | Nie odnotowano | W 1 chorobie |
| POU1F1POU class 1 homeobox 1 | Nie odnotowano | W 1 chorobie |
| PRMT7protein arginine methyltransferase 7 | Nie odnotowano | W 1 chorobie |
| PTDSS1phosphatidylserine synthase 1 | Nie odnotowano | W 1 chorobie |
| PYCR1pyrroline-5-carboxylate reductase 1 | Nie odnotowano | W 1 chorobie |
| SIX6SIX homeobox 6 | Nie odnotowano | W 1 chorobie |
| SKIC3SKI3 subunit of superkiller complex | Nie odnotowano | W 1 chorobie |
| SLC34A3solute carrier family 34 member 3 | Nie odnotowano | W 1 chorobie |
| SLC39A13solute carrier family 39 member 13 | Nie odnotowano | W 1 chorobie |
| SNX10sorting nexin 10 | Nie odnotowano | W 1 chorobie |
| SOX2SRY-box transcription factor 2 | Nie odnotowano | W 1 chorobie |
| SPRTNSprT-like N-terminal domain | Nie odnotowano | W 1 chorobie |
| STAG2STAG2 cohesin complex component | Nie odnotowano | W 1 chorobie |
| STAT3signal transducer and activator of transcription 3 | Nie odnotowano | W 1 chorobie |
| TBCEtubulin folding cofactor E | Nie odnotowano | W 1 chorobie |
| TCF20transcription factor 20 | Nie odnotowano | W 1 chorobie |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Nie odnotowano | W 1 chorobie |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Nie odnotowano | W 1 chorobie |
| UNC80unc-80 subunit of NALCN channel complex | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
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