Egenskap
Bruising susceptibility
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Sammendrag
- Også kalt
- Bruise easily, Easy bruisability, Easy bruising, Bruisability
ReferansegenomGRCh38hg38
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Få mitt Genome Test190 gener knyttet til Bruising susceptibility
Endringer i disse genene forårsaker sjeldne tilstander der Bruising susceptibility 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 |
|---|---|---|
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Alltid | I 2 tilstander |
| AEBP1AE binding protein 1 | Alltid | I 2 tilstander |
| AMOTL1angiomotin like 1 | Alltid | I 1 tilstand |
| ANKRD26ankyrin repeat domain 26 | Alltid | I 1 tilstand |
| APOA1apolipoprotein A1 | Alltid | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Alltid | I 2 tilstander |
| COL1A1collagen type I alpha 1 chain | Alltid | I 5 tilstander |
| COL1A2collagen type I alpha 2 chain | Alltid | I 5 tilstander |
| COL3A1collagen type III alpha 1 chain | Alltid | I 3 tilstander |
| CREB3L1cAMP responsive element binding protein 3 like 1 | Alltid | I 1 tilstand |
| DTNBP1dystrobrevin binding protein 1 | Alltid | I 1 tilstand |
| F13A1coagulation factor XIII A chain | Alltid | I 2 tilstander |
| F7coagulation factor VII | Alltid | I 2 tilstander |
| FUCA1alpha-L-fucosidase 1 | Alltid | I 1 tilstand |
| GATA1GATA binding protein 1 | Alltid | I 2 tilstander |
| GFI1Bgrowth factor independent 1B transcriptional repressor | Alltid | I 2 tilstander |
| GGCXgamma-glutamyl carboxylase | Alltid | I 3 tilstander |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Alltid | I 1 tilstand |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Alltid | I 1 tilstand |
| HPS3HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 | Alltid | I 1 tilstand |
| HPS4HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 | Alltid | I 1 tilstand |
| HPS5HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 | Alltid | I 1 tilstand |
| ITGB3integrin subunit beta 3 | Alltid | I 3 tilstander |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Alltid | I 1 tilstand |
| PYCR1pyrroline-5-carboxylate reductase 1 | Alltid | I 1 tilstand |
| RASGRP2RAS guanyl releasing protein 2 | Alltid | I 1 tilstand |
| RIN2Ras and Rab interactor 2 | Alltid | I 2 tilstander |
| RNU5B-1RNA, U5B small nuclear 1 | Alltid | I 1 tilstand |
| SIK3SIK family kinase 3 | Alltid | I 1 tilstand |
| SLC51Asolute carrier family 51 member A | Alltid | I 1 tilstand |
| TBXA2Rthromboxane A2 receptor | Alltid | I 1 tilstand |
| THBS2thrombospondin 2 | Alltid | I 1 tilstand |
| TNXBtenascin XB | Alltid | I 2 tilstander |
| TPM4tropomyosin 4 | Alltid | I 2 tilstander |
| ADAMTSL2ADAMTS like 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ATP7BATPase copper transporting beta | Svært ofte (80–99 %) | I 1 tilstand |
| C1Rcomplement C1r | Svært ofte (80–99 %) | I 2 tilstander |
| C1Scomplement C1s | Svært ofte (80–99 %) | I 2 tilstander |
| DSEdermatan sulfate epimerase | Svært ofte (80–99 %) | I 1 tilstand |
| F8coagulation factor VIII | Svært ofte (80–99 %) | I 3 tilstander |
Vis 150 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| F9coagulation factor IX | Svært ofte (80–99 %) | I 1 tilstand |
| FLNAfilamin A | Svært ofte (80–99 %) | I 1 tilstand |
| JAK2Janus kinase 2 | Svært ofte (80–99 %) | I 2 tilstander |
| LYSTlysosomal trafficking regulator | Svært ofte (80–99 %) | I 3 tilstander |
| NBEAL2neurobeachin like 2 | Svært ofte (80–99 %) | I 2 tilstander |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SLC39A13solute carrier family 39 member 13 | Svært ofte (80–99 %) | I 2 tilstander |
| WASWASP actin nucleation promoting factor | Svært ofte (80–99 %) | I 2 tilstander |
| ABCC6ATP binding cassette subfamily C member 6 | Ofte (30–79 %) | I 1 tilstand |
| ANO6anoctamin 6 | Ofte (30–79 %) | I 1 tilstand |
| ARMC5armadillo repeat containing 5 | Ofte (30–79 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Ofte (30–79 %) | I 2 tilstander |
| ATRXATRX chromatin remodeler | Ofte (30–79 %) | I 2 tilstander |
| B3GALT6beta-1,3-galactosyltransferase 6 | Ofte (30–79 %) | I 1 tilstand |
| BCORBCL6 corepressor | Ofte (30–79 %) | I 1 tilstand |
| BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| BLOC1S5biogenesis of lysosomal organelles complex 1 subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 3 tilstander |
| CASP10caspase 10 | Ofte (30–79 %) | I 1 tilstand |
| CDH23cadherin related 23 | Ofte (30–79 %) | I 1 tilstand |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Ofte (30–79 %) | I 1 tilstand |
| EMILIN1elastin microfibril interfacer 1 | Ofte (30–79 %) | I 1 tilstand |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Ofte (30–79 %) | I 1 tilstand |
| F13Bcoagulation factor XIII B chain | Ofte (30–79 %) | I 2 tilstander |
| FASFas cell surface death receptor | Ofte (30–79 %) | I 1 tilstand |
| FASLGFas ligand | Ofte (30–79 %) | I 1 tilstand |
| FIP1L1factor interacting with PAPOLA and CPSF1 | Ofte (30–79 %) | I 1 tilstand |
| FKBP14FKBP prolyl isomerase 14 | Ofte (30–79 %) | I 2 tilstander |
| GATA2GATA binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ofte (30–79 %) | I 1 tilstand |
| GNASGNAS complex locus | Ofte (30–79 %) | I 2 tilstander |
| GSNgelsolin | Ofte (30–79 %) | I 1 tilstand |
| HBA1hemoglobin subunit alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| HBA2hemoglobin subunit alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| HPS6HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| IRF2BP2interferon regulatory factor 2 binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| ITGA2Bintegrin subunit alpha 2b | Ofte (30–79 %) | I 3 tilstander |
| KDM1Alysine demethylase 1A | Ofte (30–79 %) | I 1 tilstand |
| LMAN1lectin, mannose binding 1 | Ofte (30–79 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MCFD2multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Ofte (30–79 %) | I 1 tilstand |
| MYH9myosin heavy chain 9 | Ofte (30–79 %) | I 2 tilstander |
| NABP1nucleic acid binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 1 tilstand |
| NPM1nucleophosmin 1 | Ofte (30–79 %) | I 1 tilstand |
| NR3C1nuclear receptor subfamily 3 group C member 1 | Ofte (30–79 %) | I 1 tilstand |
| NUMA1nuclear mitotic apparatus protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PMLPML nuclear body scaffold | Ofte (30–79 %) | I 1 tilstand |
| PRDM5PR/SET domain 5 | Ofte (30–79 %) | I 2 tilstander |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ofte (30–79 %) | I 3 tilstander |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Ofte (30–79 %) | I 2 tilstander |
| PTPRJprotein tyrosine phosphatase receptor type J | Ofte (30–79 %) | I 1 tilstand |
| RARAretinoic acid receptor alpha | Ofte (30–79 %) | I 1 tilstand |
| SCARB2scavenger receptor class B member 2 | Ofte (30–79 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Ofte (30–79 %) | I 3 tilstander |
| SMAD3SMAD family member 3 | Ofte (30–79 %) | I 4 tilstander |
| STAT3signal transducer and activator of transcription 3 | Ofte (30–79 %) | I 1 tilstand |
| STAT5Bsignal transducer and activator of transcription 5B | Ofte (30–79 %) | I 1 tilstand |
| STIM1stromal interaction molecule 1 | Ofte (30–79 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Ofte (30–79 %) | I 1 tilstand |
| TGFB2transforming growth factor beta 2 | Ofte (30–79 %) | I 3 tilstander |
| TP53tumor protein p53 | Ofte (30–79 %) | I 2 tilstander |
| USP48ubiquitin specific peptidase 48 | Ofte (30–79 %) | I 1 tilstand |
| USP8ubiquitin specific peptidase 8 | Ofte (30–79 %) | I 2 tilstander |
| VKORC1vitamin K epoxide reductase complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| VWFvon Willebrand factor | Ofte (30–79 %) | I 3 tilstander |
| ZBTB16zinc finger and BTB domain containing 16 | Ofte (30–79 %) | I 1 tilstand |
| ACTA2actin alpha 2, smooth muscle | Noen ganger (5–29 %) | I 1 tilstand |
| ACTN1actinin alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BGNbiglycan | Noen ganger (5–29 %) | I 1 tilstand |
| CALRcalreticulin | Noen ganger (5–29 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Noen ganger (5–29 %) | I 1 tilstand |
| CLCN7Cl-/H+ antiporter 7 | Noen ganger (5–29 %) | I 1 tilstand |
| COL5A1collagen type V alpha 1 chain | Noen ganger (5–29 %) | I 2 tilstander |
| COL5A2collagen type V alpha 2 chain | Noen ganger (5–29 %) | I 2 tilstander |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ELNelastin | Noen ganger (5–29 %) | I 1 tilstand |
| F10coagulation factor X | Noen ganger (5–29 %) | I 1 tilstand |
| F5coagulation factor V | Noen ganger (5–29 %) | I 2 tilstander |
| FBN1fibrillin 1 | Noen ganger (5–29 %) | I 2 tilstander |
| FCGR2CFc gamma receptor IIc (gene/pseudogene) | Noen ganger (5–29 %) | I 1 tilstand |
| FGAfibrinogen alpha chain | Noen ganger (5–29 %) | I 1 tilstand |
| FGBfibrinogen beta chain | Noen ganger (5–29 %) | I 1 tilstand |
| FGGfibrinogen gamma chain | Noen ganger (5–29 %) | I 1 tilstand |
| FOXE3forkhead box E3 | Noen ganger (5–29 %) | I 1 tilstand |
| GP1BAglycoprotein Ib platelet subunit alpha | Noen ganger (5–29 %) | I 3 tilstander |
| GP1BBglycoprotein Ib platelet subunit beta | Noen ganger (5–29 %) | I 2 tilstander |
| GP9glycoprotein IX platelet | Noen ganger (5–29 %) | I 1 tilstand |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IPO8importin 8 | Noen ganger (5–29 %) | I 2 tilstander |
| KRASKRas proto-oncogene, GTPase | Noen ganger (5–29 %) | I 2 tilstander |
| LOXlysyl oxidase | Noen ganger (5–29 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAPK1mitogen-activated protein kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAT2Amethionine adenosyltransferase 2A | Noen ganger (5–29 %) | I 1 tilstand |
| MFAP5microfibril associated protein 5 | Noen ganger (5–29 %) | I 1 tilstand |
| MPLMPL proto-oncogene, thrombopoietin receptor | Noen ganger (5–29 %) | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Noen ganger (5–29 %) | I 1 tilstand |
| MTAPmethylthioadenosine phosphorylase | Noen ganger (5–29 %) | I 1 tilstand |
| MYH11myosin heavy chain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| MYLKmyosin light chain kinase | Noen ganger (5–29 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Noen ganger (5–29 %) | I 2 tilstander |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PDE11Aphosphodiesterase 11A | Noen ganger (5–29 %) | I 2 tilstander |
| PRF1perforin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PRKG1protein kinase cGMP-dependent 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| RASA2RAS p21 protein activator 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RRASRAS related | Noen ganger (5–29 %) | I 1 tilstand |
| RRAS2RAS related 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SERPINF2serpin family F member 2 | Noen ganger (5–29 %) | I 2 tilstander |
| SH2B3SH2B adaptor protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC37A4solute carrier family 37 member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SNX10sorting nexin 10 | Noen ganger (5–29 %) | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Noen ganger (5–29 %) | I 2 tilstander |
| STX11syntaxin 11 | Noen ganger (5–29 %) | I 1 tilstand |
| STXBP2syntaxin binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Noen ganger (5–29 %) | I 1 tilstand |
| TET2tet methylcytosine dioxygenase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Noen ganger (5–29 %) | I 3 tilstander |
| TGFBR1transforming growth factor beta receptor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TGFBR2transforming growth factor beta receptor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| THSD4thrombospondin type 1 domain containing 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TNFRSF1ATNF receptor superfamily member 1A | Noen ganger (5–29 %) | I 1 tilstand |
| TNFSF11TNF superfamily member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| TRPM7transient receptor potential cation channel subfamily M member 7 | Noen ganger (5–29 %) | I 1 tilstand |
| TUBA8tubulin alpha 8 | Noen ganger (5–29 %) | I 1 tilstand |
| TUBB1tubulin beta 1 class VI | Noen ganger (5–29 %) | I 1 tilstand |
| UNC13Dunc-13 homolog D | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF469zinc finger protein 469 | Noen ganger (5–29 %) | I 1 tilstand |
| AIPAHR interacting HSP90 co-chaperone | Ikke registrert | I 1 tilstand |
| ETV6ETS variant transcription factor 6 | Ikke registrert | I 1 tilstand |
| F2coagulation factor II, thrombin | Ikke registrert | I 1 tilstand |
| FANCAFA complementation group A | Ikke registrert | I 1 tilstand |
| FANCCFA complementation group C | Ikke registrert | I 1 tilstand |
| FANCD2FA complementation group D2 | Ikke registrert | I 1 tilstand |
| FANCEFA complementation group E | Ikke registrert | I 1 tilstand |
| GP6glycoprotein VI platelet | Ikke registrert | I 1 tilstand |
| P2RY12purinergic receptor P2Y12 | Ikke registrert | I 1 tilstand |
| PLAUplasminogen activator, urokinase | Ikke registrert | I 1 tilstand |
| PLECplectin | Ikke registrert | I 1 tilstand |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Ikke registrert | I 1 tilstand |
| RUNX1RUNX family transcription factor 1 | Ikke registrert | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Ikke registrert | I 1 tilstand |
| SLFN14schlafen family member 14 | Ikke registrert | I 1 tilstand |
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