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Træk
Bulging eye
Klinisk navn: Proptosis
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Resumé
- Også kaldet
- 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
- Kropssystem
- Abnormality of the eye
Bulging eyeHP:0000520
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Bestil min Genome Test284 gener knyttet til Bulging eye
Ændringer i disse gener forårsager sjældne tilstande, hvor Bulging eye ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ALPK3alpha kinase 3 | Altid | I 1 tilstand |
| AMOTL1angiomotin like 1 | Altid | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Altid | I 2 tilstande |
| AXIN1axin 1 | Altid | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Altid | I 3 tilstande |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Altid | I 2 tilstande |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Altid | I 1 tilstand |
| CDH11cadherin 11 | Altid | I 3 tilstande |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Altid | I 1 tilstand |
| COL11A2collagen type XI alpha 2 chain | Altid | I 3 tilstande |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Altid | I 1 tilstand |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Altid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altid | I 1 tilstand |
| ERI1exoribonuclease 1 | Altid | I 1 tilstand |
| FBN1fibrillin 1 | Altid | I 2 tilstande |
| FGFR2fibroblast growth factor receptor 2 | Altid | I 12 tilstande |
| FGFR3fibroblast growth factor receptor 3 | Altid | I 7 tilstande |
| FLNAfilamin A | Altid | I 2 tilstande |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Altid | I 2 tilstande |
| INSRinsulin receptor | Altid | I 1 tilstand |
| ITCHitchy E3 ubiquitin protein ligase | Altid | I 2 tilstande |
| KRASKRas proto-oncogene, GTPase | Altid | I 4 tilstande |
| LEMD2LEM domain nuclear envelope protein 2 | Altid | I 1 tilstand |
| LMNAlamin A/C | Altid | I 3 tilstande |
| MAP2K1mitogen-activated protein kinase kinase 1 | Altid | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Altid | I 1 tilstand |
| MYOD1myogenic differentiation 1 | Altid | I 1 tilstand |
| NFIXnuclear factor I X | Altid | I 2 tilstande |
| NXNnucleoredoxin | Altid | I 2 tilstande |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Altid | I 1 tilstand |
| P4HBprolyl 4-hydroxylase subunit beta | Altid | I 2 tilstande |
| PDGFRBplatelet derived growth factor receptor beta | Altid | I 2 tilstande |
| PEPDpeptidase D | Altid | I 2 tilstande |
| PLCB3phospholipase C beta 3 | Altid | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Altid | I 1 tilstand |
| RAC3Rac family small GTPase 3 | Altid | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Altid | I 1 tilstand |
| SOSTsclerostin | Altid | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Altid | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Altid | I 1 tilstand |
Vis 244 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Altid | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Altid | I 3 tilstande |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Altid | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Altid | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Meget ofte (80–99 %) | I 2 tilstande |
| B4GALT7beta-1,4-galactosyltransferase 7 | Meget ofte (80–99 %) | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CBLCbl proto-oncogene | Meget ofte (80–99 %) | I 1 tilstand |
| COG4component of oligomeric golgi complex 4 | Meget ofte (80–99 %) | I 2 tilstande |
| COL11A1collagen type XI alpha 1 chain | Meget ofte (80–99 %) | I 4 tilstande |
| COL2A1collagen type II alpha 1 chain | Meget ofte (80–99 %) | I 4 tilstande |
| CRTAPcartilage associated protein | Meget ofte (80–99 %) | I 2 tilstande |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ELMO2engulfment and cell motility 2 | Meget ofte (80–99 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Meget ofte (80–99 %) | I 2 tilstande |
| INPPL1inositol polyphosphate phosphatase like 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Meget ofte (80–99 %) | I 2 tilstande |
| MRASmuscle RAS oncogene homolog | Meget ofte (80–99 %) | I 1 tilstand |
| NBASNBAS subunit of NRZ tethering complex | Meget ofte (80–99 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Meget ofte (80–99 %) | I 3 tilstande |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Meget ofte (80–99 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Meget ofte (80–99 %) | I 1 tilstand |
| RASA2RAS p21 protein activator 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Meget ofte (80–99 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Meget ofte (80–99 %) | I 2 tilstande |
| RRASRAS related | Meget ofte (80–99 %) | I 1 tilstand |
| RRAS2RAS related 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SEC24DSEC24 homolog D, COPII component | Meget ofte (80–99 %) | I 2 tilstande |
| SKISKI proto-oncogene | Meget ofte (80–99 %) | I 2 tilstande |
| SLC39A13solute carrier family 39 member 13 | Meget ofte (80–99 %) | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Ofte (30–79 %) | I 2 tilstande |
| ASXL2ASXL transcriptional regulator 2 | Ofte (30–79 %) | I 1 tilstand |
| ATXN3ataxin 3 | Ofte (30–79 %) | I 4 tilstande |
| AUTS2activator of transcription and developmental regulator AUTS2 | Ofte (30–79 %) | I 2 tilstande |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Ofte (30–79 %) | I 1 tilstand |
| BANF1barrier to autointegration nuclear assembly factor 1 | Ofte (30–79 %) | I 1 tilstand |
| BGNbiglycan | Ofte (30–79 %) | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Ofte (30–79 %) | I 1 tilstand |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Ofte (30–79 %) | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| COG1component of oligomeric golgi complex 1 | Ofte (30–79 %) | I 1 tilstand |
| COL3A1collagen type III alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| CPLX1complexin 1 | Ofte (30–79 %) | I 3 tilstande |
| CTBP1C-terminal binding protein 1 | Ofte (30–79 %) | I 2 tilstande |
| CTSKcathepsin K | Ofte (30–79 %) | I 1 tilstand |
| DHRS3dehydrogenase/reductase 3 | Ofte (30–79 %) | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Ofte (30–79 %) | I 3 tilstande |
| DVL3dishevelled segment polarity protein 3 | Ofte (30–79 %) | I 2 tilstande |
| ERFETS2 repressor factor | Ofte (30–79 %) | I 2 tilstande |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Ofte (30–79 %) | I 2 tilstande |
| FAM20CFAM20C golgi associated secretory pathway kinase | Ofte (30–79 %) | I 2 tilstande |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 3 tilstande |
| FGFRL1fibroblast growth factor receptor like 1 | Ofte (30–79 %) | I 1 tilstand |
| FLT4fms related receptor tyrosine kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Ofte (30–79 %) | I 2 tilstande |
| GATA5GATA binding protein 5 | Ofte (30–79 %) | I 1 tilstand |
| GATA6GATA binding protein 6 | Ofte (30–79 %) | I 2 tilstande |
| GDF1growth differentiation factor 1 | Ofte (30–79 %) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Ofte (30–79 %) | I 1 tilstand |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Ofte (30–79 %) | I 2 tilstande |
| IL11RAinterleukin 11 receptor subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| IPO8importin 8 | Ofte (30–79 %) | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Ofte (30–79 %) | I 2 tilstande |
| KAT6Alysine acetyltransferase 6A | Ofte (30–79 %) | I 1 tilstand |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Ofte (30–79 %) | I 2 tilstande |
| KDRkinase insert domain receptor | Ofte (30–79 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ofte (30–79 %) | I 2 tilstande |
| LRP2LDL receptor related protein 2 | Ofte (30–79 %) | I 2 tilstande |
| LTBP1latent transforming growth factor beta binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| MTHFRmethylenetetrahydrofolate reductase | Ofte (30–79 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ofte (30–79 %) | I 2 tilstande |
| NKX2-5NK2 homeobox 5 | Ofte (30–79 %) | I 2 tilstande |
| NKX2-6NK2 homeobox 6 | Ofte (30–79 %) | I 1 tilstand |
| NLRP3NLR family pyrin domain containing 3 | Ofte (30–79 %) | I 2 tilstande |
| NSD2nuclear receptor binding SET domain protein 2 | Ofte (30–79 %) | I 2 tilstande |
| PHGDHphosphoglycerate dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| PKDCCprotein kinase domain containing, cytoplasmic | Ofte (30–79 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 1 tilstand |
| POLR3GLRNA polymerase III subunit GL | Ofte (30–79 %) | I 1 tilstand |
| PSAT1phosphoserine aminotransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| RNU12RNA, U12 small nuclear | Ofte (30–79 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Ofte (30–79 %) | I 2 tilstande |
| SETBP1SET binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SIX3SIX homeobox 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC29A3solute carrier family 29 member 3 | Ofte (30–79 %) | I 2 tilstande |
| SOX9SRY-box transcription factor 9 | Ofte (30–79 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Ofte (30–79 %) | I 2 tilstande |
| TCF12transcription factor 12 | Ofte (30–79 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Ofte (30–79 %) | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Ofte (30–79 %) | I 2 tilstande |
| TGFBR1transforming growth factor beta receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Ofte (30–79 %) | I 1 tilstand |
| VANGL2VANGL planar cell polarity protein 2 | Ofte (30–79 %) | I 1 tilstand |
| WBP4WW domain binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| WNT5AWnt family member 5A | Ofte (30–79 %) | I 2 tilstande |
| ZFPM2zinc finger protein, FOG family member 2 | Ofte (30–79 %) | I 2 tilstande |
| ZIC1Zic family zinc finger 1 | Ofte (30–79 %) | I 1 tilstand |
| ZMPSTE24zinc metallopeptidase STE24 | Ofte (30–79 %) | I 2 tilstande |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ALKALK receptor tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| APCAPC regulator of Wnt signaling pathway | Nogle gange (5–29 %) | I 1 tilstand |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BRIP1BRCA1 interacting DNA helicase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CD4CD4 molecule | Nogle gange (5–29 %) | I 1 tilstand |
| CDC45cell division cycle 45 | Nogle gange (5–29 %) | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Nogle gange (5–29 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Nogle gange (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | Nogle gange (5–29 %) | I 1 tilstand |
| FANCBFA complementation group B | Nogle gange (5–29 %) | I 1 tilstand |
| FANCCFA complementation group C | Nogle gange (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Nogle gange (5–29 %) | I 1 tilstand |
| FANCEFA complementation group E | Nogle gange (5–29 %) | I 1 tilstand |
| FANCFFA complementation group F | Nogle gange (5–29 %) | I 1 tilstand |
| FANCGFA complementation group G | Nogle gange (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Nogle gange (5–29 %) | I 1 tilstand |
| FANCLFA complementation group L | Nogle gange (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Nogle gange (5–29 %) | I 1 tilstand |
| FLNBfilamin B | Nogle gange (5–29 %) | I 2 tilstande |
| FN1fibronectin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FOCADfocadhesin | Nogle gange (5–29 %) | I 1 tilstand |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IRF4interferon regulatory factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM5Alysine demethylase 5A | Nogle gange (5–29 %) | I 1 tilstand |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Nogle gange (5–29 %) | I 1 tilstand |
| LMO1LIM domain only 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LRP4LDL receptor related protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MTX2metaxin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| MYD88MYD88 innate immune signal transduction adaptor | Nogle gange (5–29 %) | I 1 tilstand |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Nogle gange (5–29 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Nogle gange (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| P3H1prolyl 3-hydroxylase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Nogle gange (5–29 %) | I 1 tilstand |
| PHOX2Bpaired like homeobox 2B | Nogle gange (5–29 %) | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Nogle gange (5–29 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Nogle gange (5–29 %) | I 1 tilstand |
| PLK4polo like kinase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PRTN3proteinase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PSMB8proteasome 20S subunit beta 8 | Nogle gange (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Nogle gange (5–29 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Nogle gange (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Nogle gange (5–29 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Nogle gange (5–29 %) | I 1 tilstand |
| RTTNrotatin | Nogle gange (5–29 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Nogle gange (5–29 %) | I 2 tilstande |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Nogle gange (5–29 %) | I 1 tilstand |
| SH3BP2SH3 domain binding protein 2 | Nogle gange (5–29 %) | I 2 tilstande |
| SLX4SLX4 structure-specific endonuclease subunit | Nogle gange (5–29 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Nogle gange (5–29 %) | I 1 tilstand |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Nogle gange (5–29 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Nogle gange (5–29 %) | I 1 tilstand |
| TGDSTDP-glucose 4,6-dehydratase | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM53transmembrane protein 53 | Nogle gange (5–29 %) | I 1 tilstand |
| TNFRSF11ATNF receptor superfamily member 11a | Nogle gange (5–29 %) | I 1 tilstand |
| TSHRthyroid stimulating hormone receptor | Nogle gange (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Nogle gange (5–29 %) | I 1 tilstand |
| WASF1WASP family member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR26WD repeat domain 26 | Nogle gange (5–29 %) | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjældent (1–4%) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Sjældent (1–4%) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Sjældent (1–4%) | I 1 tilstand |
| FGF9fibroblast growth factor 9 | Sjældent (1–4%) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Sjældent (1–4%) | I 1 tilstand |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Sjældent (1–4%) | I 1 tilstand |
| PDGFBplatelet derived growth factor subunit B | Sjældent (1–4%) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Sjældent (1–4%) | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Sjældent (1–4%) | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Sjældent (1–4%) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Sjældent (1–4%) | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Sjældent (1–4%) | I 1 tilstand |
| SMSspermine synthase | Sjældent (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjældent (1–4%) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Sjældent (1–4%) | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Sjældent (1–4%) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Sjældent (1–4%) | I 1 tilstand |
| ABCA12ATP binding cassette subfamily A member 12 | Ikke registreret | I 1 tilstand |
| ALPLalkaline phosphatase, biomineralization associated | Ikke registreret | I 1 tilstand |
| ASPMassembly factor for spindle microtubules | Ikke registreret | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Ikke registreret | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Ikke registreret | I 1 tilstand |
| CKAP2Lcytoskeleton associated protein 2L | Ikke registreret | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Ikke registreret | I 1 tilstand |
| DDR2discoidin domain receptor tyrosine kinase 2 | Ikke registreret | I 1 tilstand |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Ikke registreret | I 1 tilstand |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Ikke registreret | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ikke registreret | I 1 tilstand |
| FOXC1forkhead box C1 | Ikke registreret | I 1 tilstand |
| IFT81intraflagellar transport 81 | Ikke registreret | I 1 tilstand |
| IGF2insulin like growth factor 2 | Ikke registreret | I 1 tilstand |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Ikke registreret | I 1 tilstand |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Ikke registreret | I 1 tilstand |
| MMP2matrix metallopeptidase 2 | Ikke registreret | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Ikke registreret | I 1 tilstand |
| NDE1nudE neurodevelopment protein 1 | Ikke registreret | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Ikke registreret | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| PCLOpiccolo presynaptic cytomatrix protein | Ikke registreret | I 1 tilstand |
| POLD1DNA polymerase delta 1, catalytic subunit | Ikke registreret | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Ikke registreret | I 2 tilstande |
| PRUNE1prune exopolyphosphatase 1 | Ikke registreret | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Ikke registreret | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Ikke registreret | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Ikke registreret | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Ikke registreret | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Ikke registreret | I 1 tilstand |
| THRBthyroid hormone receptor beta | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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