Požymis
Bulging eye
Klinikinis pavadinimas: Proptosis
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Santrauka
- Taip pat vadinama
- Eyeballs bulging out, Prominent eyes, Prominent globes, Protruding eyes, Anterior bulging of the globe, Anterior bulging of the globe of eye, Exophthalmos, Ocular proptosis, Protrusio bulbi
- Kūno sistema
- Abnormality of the eye
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Bulging eye. 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 |
|---|---|---|
| ALPK3alpha kinase 3 | Visada | 1 ligoje |
| AMOTL1angiomotin like 1 | Visada | 1 ligoje |
| ASXL1ASXL transcriptional regulator 1 | Visada | 2 ligose |
| AXIN1axin 1 | Visada | 1 ligoje |
| B3GALT6beta-1,3-galactosyltransferase 6 | Visada | 3 ligose |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Visada | 2 ligose |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Visada | 1 ligoje |
| CDH11cadherin 11 | Visada | 3 ligose |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Visada | 1 ligoje |
| COL11A2collagen type XI alpha 2 chain | Visada | 3 ligose |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Visada | 1 ligoje |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Visada | 1 ligoje |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Visada | 1 ligoje |
| ERI1exoribonuclease 1 | Visada | 1 ligoje |
| FBN1fibrillin 1 | Visada | 2 ligose |
| FGFR2fibroblast growth factor receptor 2 | Visada | 12 ligose |
| FGFR3fibroblast growth factor receptor 3 | Visada | 7 ligose |
| FLNAfilamin A | Visada | 2 ligose |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Visada | 2 ligose |
| INSRinsulin receptor | Visada | 1 ligoje |
| ITCHitchy E3 ubiquitin protein ligase | Visada | 2 ligose |
| KRASKRas proto-oncogene, GTPase | Visada | 4 ligose |
| LEMD2LEM domain nuclear envelope protein 2 | Visada | 1 ligoje |
| LMNAlamin A/C | Visada | 3 ligose |
| MAP2K1mitogen-activated protein kinase kinase 1 | Visada | 1 ligoje |
| MAP2K2mitogen-activated protein kinase kinase 2 | Visada | 1 ligoje |
| MYOD1myogenic differentiation 1 | Visada | 1 ligoje |
| NFIXnuclear factor I X | Visada | 2 ligose |
| NXNnucleoredoxin | Visada | 2 ligose |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Visada | 1 ligoje |
| P4HBprolyl 4-hydroxylase subunit beta | Visada | 2 ligose |
| PDGFRBplatelet derived growth factor receptor beta | Visada | 2 ligose |
| PEPDpeptidase D | Visada | 2 ligose |
| PLCB3phospholipase C beta 3 | Visada | 1 ligoje |
| PPIBpeptidylprolyl isomerase B | Visada | 1 ligoje |
| RAC3Rac family small GTPase 3 | Visada | 1 ligoje |
| SH3PXD2BSH3 and PX domains 2B | Visada | 1 ligoje |
| SOSTsclerostin | Visada | 1 ligoje |
| TBCKTBC1 domain containing kinase | Visada | 1 ligoje |
| TGFB3transforming growth factor beta 3 | Visada | 1 ligoje |
Rodyti dar 244 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Visada | 1 ligoje |
| XYLT1xylosyltransferase 1 | Visada | 3 ligose |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Visada | 1 ligoje |
| ZIC2Zic family zinc finger 2 | Visada | 1 ligoje |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Labai dažnai (80–99%) | 2 ligose |
| B4GALT7beta-1,4-galactosyltransferase 7 | Labai dažnai (80–99%) | 1 ligoje |
| CANT1calcium activated nucleotidase 1 | Labai dažnai (80–99%) | 2 ligose |
| CBLCbl proto-oncogene | Labai dažnai (80–99%) | 1 ligoje |
| COG4component of oligomeric golgi complex 4 | Labai dažnai (80–99%) | 2 ligose |
| COL11A1collagen type XI alpha 1 chain | Labai dažnai (80–99%) | 4 ligose |
| COL2A1collagen type II alpha 1 chain | Labai dažnai (80–99%) | 4 ligose |
| CRTAPcartilage associated protein | Labai dažnai (80–99%) | 2 ligose |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| ELMO2engulfment and cell motility 2 | Labai dažnai (80–99%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Labai dažnai (80–99%) | 2 ligose |
| INPPL1inositol polyphosphate phosphatase like 1 | Labai dažnai (80–99%) | 1 ligoje |
| LZTR1leucine zipper like post translational regulator 1 | Labai dažnai (80–99%) | 1 ligoje |
| MAFBMAF bZIP transcription factor B | Labai dažnai (80–99%) | 2 ligose |
| MRASmuscle RAS oncogene homolog | Labai dažnai (80–99%) | 1 ligoje |
| NBASNBAS subunit of NRZ tethering complex | Labai dažnai (80–99%) | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| PTH1Rparathyroid hormone 1 receptor | Labai dažnai (80–99%) | 3 ligose |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Labai dažnai (80–99%) | 1 ligoje |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Labai dažnai (80–99%) | 1 ligoje |
| RASA2RAS p21 protein activator 2 | Labai dažnai (80–99%) | 1 ligoje |
| RECQL4RecQ like helicase 4 | Labai dažnai (80–99%) | 1 ligoje |
| RIT1Ras like without CAAX 1 | Labai dažnai (80–99%) | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Labai dažnai (80–99%) | 2 ligose |
| RRASRAS related | Labai dažnai (80–99%) | 1 ligoje |
| RRAS2RAS related 2 | Labai dažnai (80–99%) | 1 ligoje |
| RSPRY1ring finger and SPRY domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| SEC24DSEC24 homolog D, COPII component | Labai dažnai (80–99%) | 2 ligose |
| SKISKI proto-oncogene | Labai dažnai (80–99%) | 2 ligose |
| SLC39A13solute carrier family 39 member 13 | Labai dažnai (80–99%) | 1 ligoje |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| SPRED2sprouty related EVH1 domain containing 2 | Labai dažnai (80–99%) | 1 ligoje |
| AFF4ALF transcription elongation factor 4 | Dažnai (30–79%) | 2 ligose |
| ASXL2ASXL transcriptional regulator 2 | Dažnai (30–79%) | 1 ligoje |
| ATXN3ataxin 3 | Dažnai (30–79%) | 4 ligose |
| AUTS2activator of transcription and developmental regulator AUTS2 | Dažnai (30–79%) | 2 ligose |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Dažnai (30–79%) | 1 ligoje |
| BANF1barrier to autointegration nuclear assembly factor 1 | Dažnai (30–79%) | 1 ligoje |
| BGNbiglycan | Dažnai (30–79%) | 1 ligoje |
| CHST3carbohydrate sulfotransferase 3 | Dažnai (30–79%) | 1 ligoje |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Dažnai (30–79%) | 1 ligoje |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Dažnai (30–79%) | 2 ligose |
| COG1component of oligomeric golgi complex 1 | Dažnai (30–79%) | 1 ligoje |
| COL3A1collagen type III alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| CPLX1complexin 1 | Dažnai (30–79%) | 3 ligose |
| CTBP1C-terminal binding protein 1 | Dažnai (30–79%) | 2 ligose |
| CTSKcathepsin K | Dažnai (30–79%) | 1 ligoje |
| DHRS3dehydrogenase/reductase 3 | Dažnai (30–79%) | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Dažnai (30–79%) | 3 ligose |
| DVL3dishevelled segment polarity protein 3 | Dažnai (30–79%) | 2 ligose |
| ERFETS2 repressor factor | Dažnai (30–79%) | 2 ligose |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Dažnai (30–79%) | 2 ligose |
| FAM20CFAM20C golgi associated secretory pathway kinase | Dažnai (30–79%) | 2 ligose |
| FGFR1fibroblast growth factor receptor 1 | Dažnai (30–79%) | 3 ligose |
| FGFRL1fibroblast growth factor receptor like 1 | Dažnai (30–79%) | 1 ligoje |
| FLT4fms related receptor tyrosine kinase 4 | Dažnai (30–79%) | 1 ligoje |
| FZD2frizzled class receptor 2 | Dažnai (30–79%) | 1 ligoje |
| GATA4GATA binding protein 4 | Dažnai (30–79%) | 2 ligose |
| GATA5GATA binding protein 5 | Dažnai (30–79%) | 1 ligoje |
| GATA6GATA binding protein 6 | Dažnai (30–79%) | 2 ligose |
| GDF1growth differentiation factor 1 | Dažnai (30–79%) | 1 ligoje |
| GJA5gap junction protein alpha 5 | Dažnai (30–79%) | 1 ligoje |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Dažnai (30–79%) | 2 ligose |
| IL11RAinterleukin 11 receptor subunit alpha | Dažnai (30–79%) | 1 ligoje |
| IPO8importin 8 | Dažnai (30–79%) | 1 ligoje |
| JAG1jagged canonical Notch ligand 1 | Dažnai (30–79%) | 2 ligose |
| KAT6Alysine acetyltransferase 6A | Dažnai (30–79%) | 1 ligoje |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Dažnai (30–79%) | 2 ligose |
| KDRkinase insert domain receptor | Dažnai (30–79%) | 1 ligoje |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Dažnai (30–79%) | 2 ligose |
| LRP2LDL receptor related protein 2 | Dažnai (30–79%) | 2 ligose |
| LTBP1latent transforming growth factor beta binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| MTHFRmethylenetetrahydrofolate reductase | Dažnai (30–79%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Dažnai (30–79%) | 2 ligose |
| NKX2-5NK2 homeobox 5 | Dažnai (30–79%) | 2 ligose |
| NKX2-6NK2 homeobox 6 | Dažnai (30–79%) | 1 ligoje |
| NLRP3NLR family pyrin domain containing 3 | Dažnai (30–79%) | 2 ligose |
| NSD2nuclear receptor binding SET domain protein 2 | Dažnai (30–79%) | 2 ligose |
| PHGDHphosphoglycerate dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| PKDCCprotein kinase domain containing, cytoplasmic | Dažnai (30–79%) | 1 ligoje |
| POLR3ARNA polymerase III subunit A | Dažnai (30–79%) | 1 ligoje |
| POLR3GLRNA polymerase III subunit GL | Dažnai (30–79%) | 1 ligoje |
| PSAT1phosphoserine aminotransferase 1 | Dažnai (30–79%) | 1 ligoje |
| RNU12RNA, U12 small nuclear | Dažnai (30–79%) | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Dažnai (30–79%) | 2 ligose |
| SETBP1SET binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| SIX3SIX homeobox 3 | Dažnai (30–79%) | 1 ligoje |
| SLC29A3solute carrier family 29 member 3 | Dažnai (30–79%) | 2 ligose |
| SOX9SRY-box transcription factor 9 | Dažnai (30–79%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Dažnai (30–79%) | 2 ligose |
| TCF12transcription factor 12 | Dažnai (30–79%) | 1 ligoje |
| TCTN3tectonic family member 3 | Dažnai (30–79%) | 1 ligoje |
| TGFB1transforming growth factor beta 1 | Dažnai (30–79%) | 2 ligose |
| TGFBR1transforming growth factor beta receptor 1 | Dažnai (30–79%) | 1 ligoje |
| TGFBR2transforming growth factor beta receptor 2 | Dažnai (30–79%) | 1 ligoje |
| TWIST1twist family bHLH transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| VAC14VAC14 component of PIKFYVE complex | Dažnai (30–79%) | 1 ligoje |
| VANGL2VANGL planar cell polarity protein 2 | Dažnai (30–79%) | 1 ligoje |
| WBP4WW domain binding protein 4 | Dažnai (30–79%) | 1 ligoje |
| WNT5AWnt family member 5A | Dažnai (30–79%) | 2 ligose |
| ZFPM2zinc finger protein, FOG family member 2 | Dažnai (30–79%) | 2 ligose |
| ZIC1Zic family zinc finger 1 | Dažnai (30–79%) | 1 ligoje |
| ZMPSTE24zinc metallopeptidase STE24 | Dažnai (30–79%) | 2 ligose |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Kartais (5–29%) | 1 ligoje |
| ADAMTSL2ADAMTS like 2 | Kartais (5–29%) | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Kartais (5–29%) | 1 ligoje |
| AKT1AKT serine/threonine kinase 1 | Kartais (5–29%) | 2 ligose |
| ALKALK receptor tyrosine kinase | Kartais (5–29%) | 1 ligoje |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| APCAPC regulator of Wnt signaling pathway | Kartais (5–29%) | 1 ligoje |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | 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 |
| CD4CD4 molecule | Kartais (5–29%) | 1 ligoje |
| CDC45cell division cycle 45 | Kartais (5–29%) | 1 ligoje |
| COL1A1collagen type I alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| CRELD1CRELD disulfide isomerase 1 | Kartais (5–29%) | 1 ligoje |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Kartais (5–29%) | 1 ligoje |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Kartais (5–29%) | 1 ligoje |
| DHCR77-dehydrocholesterol reductase | Kartais (5–29%) | 1 ligoje |
| DPYSL5dihydropyrimidinase like 5 | Kartais (5–29%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Kartais (5–29%) | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | 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%) | 2 ligose |
| FN1fibronectin 1 | Kartais (5–29%) | 1 ligoje |
| FOCADfocadhesin | Kartais (5–29%) | 1 ligoje |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Kartais (5–29%) | 1 ligoje |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Kartais (5–29%) | 1 ligoje |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Kartais (5–29%) | 1 ligoje |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Kartais (5–29%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Kartais (5–29%) | 1 ligoje |
| IRF4interferon regulatory factor 4 | Kartais (5–29%) | 1 ligoje |
| KDM5Alysine demethylase 5A | Kartais (5–29%) | 1 ligoje |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Kartais (5–29%) | 1 ligoje |
| LMO1LIM domain only 1 | Kartais (5–29%) | 1 ligoje |
| LRP4LDL receptor related protein 4 | Kartais (5–29%) | 1 ligoje |
| MAD2L2mitotic arrest deficient 2 like 2 | Kartais (5–29%) | 1 ligoje |
| MAN2B1mannosidase alpha class 2B member 1 | Kartais (5–29%) | 1 ligoje |
| MTX2metaxin 2 | Kartais (5–29%) | 1 ligoje |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Kartais (5–29%) | 1 ligoje |
| MYD88MYD88 innate immune signal transduction adaptor | Kartais (5–29%) | 1 ligoje |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Kartais (5–29%) | 1 ligoje |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Kartais (5–29%) | 1 ligoje |
| NELFAnegative elongation factor complex member A | Kartais (5–29%) | 1 ligoje |
| NF1neurofibromin 1 | Kartais (5–29%) | 1 ligoje |
| NOTCH3notch receptor 3 | Kartais (5–29%) | 1 ligoje |
| P3H1prolyl 3-hydroxylase 1 | Kartais (5–29%) | 1 ligoje |
| PALB2partner and localizer of BRCA2 | Kartais (5–29%) | 1 ligoje |
| PHOX2Bpaired like homeobox 2B | Kartais (5–29%) | 1 ligoje |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Kartais (5–29%) | 1 ligoje |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Kartais (5–29%) | 1 ligoje |
| PLK4polo like kinase 4 | Kartais (5–29%) | 1 ligoje |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PRTN3proteinase 3 | Kartais (5–29%) | 1 ligoje |
| PSMB8proteasome 20S subunit beta 8 | Kartais (5–29%) | 1 ligoje |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Kartais (5–29%) | 1 ligoje |
| RAD51RAD51 recombinase | Kartais (5–29%) | 1 ligoje |
| RAD51CRAD51 paralog C | Kartais (5–29%) | 1 ligoje |
| RFWD3ring finger and WD repeat domain 3 | Kartais (5–29%) | 1 ligoje |
| RTTNrotatin | Kartais (5–29%) | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Kartais (5–29%) | 2 ligose |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Kartais (5–29%) | 1 ligoje |
| SH3BP2SH3 domain binding protein 2 | Kartais (5–29%) | 2 ligose |
| SLX4SLX4 structure-specific endonuclease subunit | Kartais (5–29%) | 1 ligoje |
| SMAD3SMAD family member 3 | Kartais (5–29%) | 1 ligoje |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Kartais (5–29%) | 1 ligoje |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Kartais (5–29%) | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Kartais (5–29%) | 1 ligoje |
| TGDSTDP-glucose 4,6-dehydratase | Kartais (5–29%) | 1 ligoje |
| TMEM53transmembrane protein 53 | Kartais (5–29%) | 1 ligoje |
| TNFRSF11ATNF receptor superfamily member 11a | Kartais (5–29%) | 1 ligoje |
| TSHRthyroid stimulating hormone receptor | Kartais (5–29%) | 1 ligoje |
| UBE2Tubiquitin conjugating enzyme E2 T | Kartais (5–29%) | 1 ligoje |
| WASF1WASP family member 1 | Kartais (5–29%) | 1 ligoje |
| WDR26WD repeat domain 26 | Kartais (5–29%) | 1 ligoje |
| WSB2WD repeat and SOCS box containing 2 | Kartais (5–29%) | 1 ligoje |
| XRCC2X-ray repair cross complementing 2 | Kartais (5–29%) | 1 ligoje |
| ZNF699zinc finger protein 699 | Kartais (5–29%) | 1 ligoje |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Retai (1–4 %) | 1 ligoje |
| BAP1BRCA1 associated deubiquitinase 1 | Retai (1–4 %) | 1 ligoje |
| EBF3EBF transcription factor 3 | Retai (1–4 %) | 1 ligoje |
| FGF9fibroblast growth factor 9 | Retai (1–4 %) | 1 ligoje |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Retai (1–4 %) | 1 ligoje |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Retai (1–4 %) | 1 ligoje |
| PDGFBplatelet derived growth factor subunit B | Retai (1–4 %) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Retai (1–4 %) | 1 ligoje |
| SLC39A14solute carrier family 39 member 14 | Retai (1–4 %) | 1 ligoje |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Retai (1–4 %) | 1 ligoje |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Retai (1–4 %) | 1 ligoje |
| SMOsmoothened, frizzled class receptor | Retai (1–4 %) | 1 ligoje |
| SMSspermine synthase | Retai (1–4 %) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Retai (1–4 %) | 1 ligoje |
| TERTtelomerase reverse transcriptase | Retai (1–4 %) | 1 ligoje |
| TRAF7TNF receptor associated factor 7 | Retai (1–4 %) | 1 ligoje |
| ABCA12ATP binding cassette subfamily A member 12 | Neužfiksuota | 1 ligoje |
| ALPLalkaline phosphatase, biomineralization associated | Neužfiksuota | 1 ligoje |
| ASPMassembly factor for spindle microtubules | Neužfiksuota | 1 ligoje |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Neužfiksuota | 1 ligoje |
| CDONcell adhesion associated, oncogene regulated | Neužfiksuota | 1 ligoje |
| CKAP2Lcytoskeleton associated protein 2L | Neužfiksuota | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Neužfiksuota | 1 ligoje |
| DDR2discoidin domain receptor tyrosine kinase 2 | Neužfiksuota | 1 ligoje |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Neužfiksuota | 1 ligoje |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Neužfiksuota | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Neužfiksuota | 1 ligoje |
| FOXC1forkhead box C1 | Neužfiksuota | 1 ligoje |
| IFT81intraflagellar transport 81 | Neužfiksuota | 1 ligoje |
| IGF2insulin like growth factor 2 | Neužfiksuota | 1 ligoje |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Neužfiksuota | 1 ligoje |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Neužfiksuota | 1 ligoje |
| MMP2matrix metallopeptidase 2 | Neužfiksuota | 1 ligoje |
| MUSKmuscle associated receptor tyrosine kinase | Neužfiksuota | 1 ligoje |
| NDE1nudE neurodevelopment protein 1 | Neužfiksuota | 1 ligoje |
| NIPBLNIPBL cohesin loading factor | Neužfiksuota | 1 ligoje |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| PCLOpiccolo presynaptic cytomatrix protein | Neužfiksuota | 1 ligoje |
| POLD1DNA polymerase delta 1, catalytic subunit | Neužfiksuota | 1 ligoje |
| PORcytochrome p450 oxidoreductase | Neužfiksuota | 2 ligose |
| PRUNE1prune exopolyphosphatase 1 | Neužfiksuota | 1 ligoje |
| SHHsonic hedgehog signaling molecule | Neužfiksuota | 1 ligoje |
| SKIC3SKI3 subunit of superkiller complex | Neužfiksuota | 1 ligoje |
| SLC25A24solute carrier family 25 member 24 | Neužfiksuota | 1 ligoje |
| STAG2STAG2 cohesin complex component | Neužfiksuota | 1 ligoje |
| TAF1TATA-box binding protein associated factor 1 | Neužfiksuota | 1 ligoje |
| THRBthyroid hormone receptor beta | 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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Iš kur tai žinoma
- 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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