Egenskap
Bulging eye
Klinisk navn: Proptosis
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Sammendrag
- Også kalt
- 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
- Kroppssystem
- Abnormality of the eye
ReferansegenomGRCh38hg38
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Få mitt Genome Test284 gener knyttet til Bulging eye
Endringer i disse genene forårsaker sjeldne tilstander der Bulging eye forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ALPK3alpha kinase 3 | Alltid | I 1 tilstand |
| AMOTL1angiomotin like 1 | Alltid | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Alltid | I 2 tilstander |
| AXIN1axin 1 | Alltid | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Alltid | I 3 tilstander |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Alltid | I 2 tilstander |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Alltid | I 1 tilstand |
| CDH11cadherin 11 | Alltid | I 3 tilstander |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Alltid | I 1 tilstand |
| COL11A2collagen type XI alpha 2 chain | Alltid | I 3 tilstander |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Alltid | I 1 tilstand |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Alltid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alltid | I 1 tilstand |
| ERI1exoribonuclease 1 | Alltid | I 1 tilstand |
| FBN1fibrillin 1 | Alltid | I 2 tilstander |
| FGFR2fibroblast growth factor receptor 2 | Alltid | I 12 tilstander |
| FGFR3fibroblast growth factor receptor 3 | Alltid | I 7 tilstander |
| FLNAfilamin A | Alltid | I 2 tilstander |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Alltid | I 2 tilstander |
| INSRinsulin receptor | Alltid | I 1 tilstand |
| ITCHitchy E3 ubiquitin protein ligase | Alltid | I 2 tilstander |
| KRASKRas proto-oncogene, GTPase | Alltid | I 4 tilstander |
| LEMD2LEM domain nuclear envelope protein 2 | Alltid | I 1 tilstand |
| LMNAlamin A/C | Alltid | I 3 tilstander |
| MAP2K1mitogen-activated protein kinase kinase 1 | Alltid | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Alltid | I 1 tilstand |
| MYOD1myogenic differentiation 1 | Alltid | I 1 tilstand |
| NFIXnuclear factor I X | Alltid | I 2 tilstander |
| NXNnucleoredoxin | Alltid | I 2 tilstander |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Alltid | I 1 tilstand |
| P4HBprolyl 4-hydroxylase subunit beta | Alltid | I 2 tilstander |
| PDGFRBplatelet derived growth factor receptor beta | Alltid | I 2 tilstander |
| PEPDpeptidase D | Alltid | I 2 tilstander |
| PLCB3phospholipase C beta 3 | Alltid | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Alltid | I 1 tilstand |
| RAC3Rac family small GTPase 3 | Alltid | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Alltid | I 1 tilstand |
| SOSTsclerostin | Alltid | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Alltid | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Alltid | I 1 tilstand |
Vis 244 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Alltid | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Alltid | I 3 tilstander |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Alltid | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Alltid | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Svært ofte (80–99 %) | I 2 tilstander |
| B4GALT7beta-1,4-galactosyltransferase 7 | Svært ofte (80–99 %) | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CBLCbl proto-oncogene | Svært ofte (80–99 %) | I 1 tilstand |
| COG4component of oligomeric golgi complex 4 | Svært ofte (80–99 %) | I 2 tilstander |
| COL11A1collagen type XI alpha 1 chain | Svært ofte (80–99 %) | I 4 tilstander |
| COL2A1collagen type II alpha 1 chain | Svært ofte (80–99 %) | I 4 tilstander |
| CRTAPcartilage associated protein | Svært ofte (80–99 %) | I 2 tilstander |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ELMO2engulfment and cell motility 2 | Svært ofte (80–99 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Svært ofte (80–99 %) | I 2 tilstander |
| INPPL1inositol polyphosphate phosphatase like 1 | Svært ofte (80–99 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Svært ofte (80–99 %) | I 2 tilstander |
| MRASmuscle RAS oncogene homolog | Svært ofte (80–99 %) | I 1 tilstand |
| NBASNBAS subunit of NRZ tethering complex | Svært ofte (80–99 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Svært ofte (80–99 %) | I 3 tilstander |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Svært ofte (80–99 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| RASA2RAS p21 protein activator 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Svært ofte (80–99 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Svært ofte (80–99 %) | I 2 tilstander |
| RRASRAS related | Svært ofte (80–99 %) | I 1 tilstand |
| RRAS2RAS related 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SEC24DSEC24 homolog D, COPII component | Svært ofte (80–99 %) | I 2 tilstander |
| SKISKI proto-oncogene | Svært ofte (80–99 %) | I 2 tilstander |
| SLC39A13solute carrier family 39 member 13 | Svært ofte (80–99 %) | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Ofte (30–79 %) | I 2 tilstander |
| ASXL2ASXL transcriptional regulator 2 | Ofte (30–79 %) | I 1 tilstand |
| ATXN3ataxin 3 | Ofte (30–79 %) | I 4 tilstander |
| AUTS2activator of transcription and developmental regulator AUTS2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| CTBP1C-terminal binding protein 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| DVL3dishevelled segment polarity protein 3 | Ofte (30–79 %) | I 2 tilstander |
| ERFETS2 repressor factor | Ofte (30–79 %) | I 2 tilstander |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Ofte (30–79 %) | I 2 tilstander |
| FAM20CFAM20C golgi associated secretory pathway kinase | Ofte (30–79 %) | I 2 tilstander |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| GATA5GATA binding protein 5 | Ofte (30–79 %) | I 1 tilstand |
| GATA6GATA binding protein 6 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| KAT6Alysine acetyltransferase 6A | Ofte (30–79 %) | I 1 tilstand |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Ofte (30–79 %) | I 2 tilstander |
| KDRkinase insert domain receptor | Ofte (30–79 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ofte (30–79 %) | I 2 tilstander |
| LRP2LDL receptor related protein 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| NKX2-5NK2 homeobox 5 | Ofte (30–79 %) | I 2 tilstander |
| NKX2-6NK2 homeobox 6 | Ofte (30–79 %) | I 1 tilstand |
| NLRP3NLR family pyrin domain containing 3 | Ofte (30–79 %) | I 2 tilstander |
| NSD2nuclear receptor binding SET domain protein 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| SOX9SRY-box transcription factor 9 | Ofte (30–79 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| ZFPM2zinc finger protein, FOG family member 2 | Ofte (30–79 %) | I 2 tilstander |
| ZIC1Zic family zinc finger 1 | Ofte (30–79 %) | I 1 tilstand |
| ZMPSTE24zinc metallopeptidase STE24 | Ofte (30–79 %) | I 2 tilstander |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| ALKALK receptor tyrosine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| APCAPC regulator of Wnt signaling pathway | Noen ganger (5–29 %) | I 1 tilstand |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRIP1BRCA1 interacting DNA helicase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CD4CD4 molecule | Noen ganger (5–29 %) | I 1 tilstand |
| CDC45cell division cycle 45 | Noen ganger (5–29 %) | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Noen ganger (5–29 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | Noen ganger (5–29 %) | I 1 tilstand |
| FANCBFA complementation group B | Noen ganger (5–29 %) | I 1 tilstand |
| FANCCFA complementation group C | Noen ganger (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCEFA complementation group E | Noen ganger (5–29 %) | I 1 tilstand |
| FANCFFA complementation group F | Noen ganger (5–29 %) | I 1 tilstand |
| FANCGFA complementation group G | Noen ganger (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Noen ganger (5–29 %) | I 1 tilstand |
| FANCLFA complementation group L | Noen ganger (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Noen ganger (5–29 %) | I 1 tilstand |
| FLNBfilamin B | Noen ganger (5–29 %) | I 2 tilstander |
| FN1fibronectin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FOCADfocadhesin | Noen ganger (5–29 %) | I 1 tilstand |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IRF4interferon regulatory factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM5Alysine demethylase 5A | Noen ganger (5–29 %) | I 1 tilstand |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Noen ganger (5–29 %) | I 1 tilstand |
| LMO1LIM domain only 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LRP4LDL receptor related protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MTX2metaxin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| MYD88MYD88 innate immune signal transduction adaptor | Noen ganger (5–29 %) | I 1 tilstand |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Noen ganger (5–29 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Noen ganger (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| P3H1prolyl 3-hydroxylase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Noen ganger (5–29 %) | I 1 tilstand |
| PHOX2Bpaired like homeobox 2B | Noen ganger (5–29 %) | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Noen ganger (5–29 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Noen ganger (5–29 %) | I 1 tilstand |
| PLK4polo like kinase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PRTN3proteinase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PSMB8proteasome 20S subunit beta 8 | Noen ganger (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Noen ganger (5–29 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| RTTNrotatin | Noen ganger (5–29 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Noen ganger (5–29 %) | I 2 tilstander |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Noen ganger (5–29 %) | I 1 tilstand |
| SH3BP2SH3 domain binding protein 2 | Noen ganger (5–29 %) | I 2 tilstander |
| SLX4SLX4 structure-specific endonuclease subunit | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Noen ganger (5–29 %) | I 1 tilstand |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Noen ganger (5–29 %) | I 1 tilstand |
| TGDSTDP-glucose 4,6-dehydratase | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM53transmembrane protein 53 | Noen ganger (5–29 %) | I 1 tilstand |
| TNFRSF11ATNF receptor superfamily member 11a | Noen ganger (5–29 %) | I 1 tilstand |
| TSHRthyroid stimulating hormone receptor | Noen ganger (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Noen ganger (5–29 %) | I 1 tilstand |
| WASF1WASP family member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR26WD repeat domain 26 | Noen ganger (5–29 %) | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Noen ganger (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjelden (1–4%) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Sjelden (1–4%) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Sjelden (1–4%) | I 1 tilstand |
| FGF9fibroblast growth factor 9 | Sjelden (1–4%) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Sjelden (1–4%) | I 1 tilstand |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Sjelden (1–4%) | I 1 tilstand |
| PDGFBplatelet derived growth factor subunit B | Sjelden (1–4%) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Sjelden (1–4%) | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Sjelden (1–4%) | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Sjelden (1–4%) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Sjelden (1–4%) | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Sjelden (1–4%) | I 1 tilstand |
| SMSspermine synthase | Sjelden (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjelden (1–4%) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Sjelden (1–4%) | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Sjelden (1–4%) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Sjelden (1–4%) | I 1 tilstand |
| ABCA12ATP binding cassette subfamily A member 12 | Ikke registrert | I 1 tilstand |
| ALPLalkaline phosphatase, biomineralization associated | Ikke registrert | I 1 tilstand |
| ASPMassembly factor for spindle microtubules | Ikke registrert | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Ikke registrert | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Ikke registrert | I 1 tilstand |
| CKAP2Lcytoskeleton associated protein 2L | Ikke registrert | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Ikke registrert | I 1 tilstand |
| DDR2discoidin domain receptor tyrosine kinase 2 | Ikke registrert | I 1 tilstand |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Ikke registrert | I 1 tilstand |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Ikke registrert | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ikke registrert | I 1 tilstand |
| FOXC1forkhead box C1 | Ikke registrert | I 1 tilstand |
| IFT81intraflagellar transport 81 | Ikke registrert | I 1 tilstand |
| IGF2insulin like growth factor 2 | Ikke registrert | I 1 tilstand |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Ikke registrert | I 1 tilstand |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Ikke registrert | I 1 tilstand |
| MMP2matrix metallopeptidase 2 | Ikke registrert | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Ikke registrert | I 1 tilstand |
| NDE1nudE neurodevelopment protein 1 | Ikke registrert | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Ikke registrert | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| PCLOpiccolo presynaptic cytomatrix protein | Ikke registrert | I 1 tilstand |
| POLD1DNA polymerase delta 1, catalytic subunit | Ikke registrert | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Ikke registrert | I 2 tilstander |
| PRUNE1prune exopolyphosphatase 1 | Ikke registrert | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Ikke registrert | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Ikke registrert | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Ikke registrert | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Ikke registrert | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Ikke registrert | I 1 tilstand |
| THRBthyroid hormone receptor beta | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker