AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Tunnus
Increased spleen size
Kliiniline nimetus: Splenomegaly
Abnormal increased size of the spleen.
Kokkuvõte
- Teised nimetused
- Large spleen
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/splenomegaly.json"
page <- fromJSON(url)
page$trait$nameIncreased spleen sizeHP:0001744
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Lugege välja geenid, mis on seotud Increased spleen size-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test442 geeni on seotud tunnusega Increased spleen size
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Increased spleen size. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ABCB11ATP binding cassette subfamily B member 11 | Alati | Esineb 2 haiguses |
| ABCB4ATP binding cassette subfamily B member 4 | Alati | Esineb 1 haiguses |
| ABCD3ATP binding cassette subfamily D member 3 | Alati | Esineb 1 haiguses |
| ABCG8ATP binding cassette subfamily G member 8 | Alati | Esineb 2 haiguses |
| ALDOAaldolase, fructose-bisphosphate A | Alati | Esineb 1 haiguses |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Alati | Esineb 1 haiguses |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Alati | Esineb 1 haiguses |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Alati | Esineb 1 haiguses |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Alati | Esineb 1 haiguses |
| APOC2apolipoprotein C2 | Alati | Esineb 1 haiguses |
| APOEapolipoprotein E | Alati | Esineb 1 haiguses |
| ARID2AT-rich interaction domain 2 | Alati | Esineb 1 haiguses |
| ARPC5actin related protein 2/3 complex subunit 5 | Alati | Esineb 1 haiguses |
| ATP7BATPase copper transporting beta | Alati | Esineb 2 haiguses |
| ATP8B1ATPase phospholipid transporting 8B1 | Alati | Esineb 2 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Alati | Esineb 1 haiguses |
| CALRcalreticulin | Alati | Esineb 5 haiguses |
| CARD11caspase recruitment domain family member 11 | Alati | Esineb 1 haiguses |
| CASP10caspase 10 | Alati | Esineb 2 haiguses |
| CASP8caspase 8 | Alati | Esineb 1 haiguses |
| CD27CD27 molecule | Alati | Esineb 1 haiguses |
| COG7component of oligomeric golgi complex 7 | Alati | Esineb 1 haiguses |
| CR2complement C3d receptor 2 | Alati | Esineb 2 haiguses |
| CSF3Rcolony stimulating factor 3 receptor | Alati | Esineb 1 haiguses |
| CYBC1cytochrome b-245 chaperone 1 | Alati | Esineb 2 haiguses |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Alati | Esineb 1 haiguses |
| DCDC2doublecortin domain containing 2 | Alati | Esineb 2 haiguses |
| DCLRE1CDNA cross-link repair 1C | Alati | Esineb 3 haiguses |
| DGUOKdeoxyguanosine kinase | Alati | Esineb 2 haiguses |
| DHCR77-dehydrocholesterol reductase | Alati | Esineb 1 haiguses |
| EPB42erythrocyte membrane protein band 4.2 | Alati | Esineb 2 haiguses |
| F8coagulation factor VIII | Alati | Esineb 1 haiguses |
| GBA1glucosylceramidase beta 1 | Alati | Esineb 9 haiguses |
| GIMAP5GTPase, IMAP family member 5 | Alati | Esineb 1 haiguses |
| GPIHBP1glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 | Alati | Esineb 1 haiguses |
| HBBhemoglobin subunit beta | Alati | Esineb 10 haiguses |
| HCKHCK proto-oncogene, Src family tyrosine kinase | Alati | Esineb 1 haiguses |
| IDSiduronate 2-sulfatase | Alati | Esineb 1 haiguses |
| IRF8interferon regulatory factor 8 | Alati | Esineb 1 haiguses |
| ITKIL2 inducible T cell kinase | Alati | Esineb 1 haiguses |
Näita veel 402 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Alati | Esineb 1 haiguses |
| JAK2Janus kinase 2 | Alati | Esineb 8 haiguses |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Alati | Esineb 2 haiguses |
| KLF1KLF transcription factor 1 | Alati | Esineb 4 haiguses |
| KRASKRas proto-oncogene, GTPase | Alati | Esineb 1 haiguses |
| LATlinker for activation of T cells | Alati | Esineb 1 haiguses |
| LIPAlipase A, lysosomal acid type | Alati | Esineb 4 haiguses |
| LMNAlamin A/C | Alati | Esineb 3 haiguses |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Alati | Esineb 1 haiguses |
| MAGT1magnesium transporter 1 | Alati | Esineb 1 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Alati | Esineb 2 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Alati | Esineb 1 haiguses |
| MPLMPL proto-oncogene, thrombopoietin receptor | Alati | Esineb 4 haiguses |
| NFKBIANFKB inhibitor alpha | Alati | Esineb 1 haiguses |
| NHEJ1non-homologous end joining factor 1 | Alati | Esineb 1 haiguses |
| NLRC4NLR family CARD domain containing 4 | Alati | Esineb 1 haiguses |
| OAS12'-5'-oligoadenylate synthetase 1 | Alati | Esineb 1 haiguses |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Alati | Esineb 2 haiguses |
| PDCD1programmed cell death 1 | Alati | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alati | Esineb 2 haiguses |
| PIK3CGphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | Alati | Esineb 1 haiguses |
| PKLRpyruvate kinase L/R | Alati | Esineb 2 haiguses |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Alati | Esineb 1 haiguses |
| POLD3DNA polymerase delta 3, accessory subunit | Alati | Esineb 1 haiguses |
| POT1protection of telomeres 1 | Alati | Esineb 1 haiguses |
| PSAPprosaposin | Alati | Esineb 3 haiguses |
| PSKH1protein serine kinase H1 | Alati | Esineb 1 haiguses |
| PSMG2proteasome assembly chaperone 2 | Alati | Esineb 1 haiguses |
| PTCRApre T cell antigen receptor alpha | Alati | Esineb 1 haiguses |
| RASGRP1RAS guanyl releasing protein 1 | Alati | Esineb 1 haiguses |
| RC3H1ring finger and CCCH-type domains 1 | Alati | Esineb 1 haiguses |
| RFXAPregulatory factor X associated protein | Alati | Esineb 1 haiguses |
| RNF31ring finger protein 31 | Alati | Esineb 1 haiguses |
| SCYL1SCY1 like pseudokinase 1 | Alati | Esineb 1 haiguses |
| SERPINA1serpin family A member 1 | Alati | Esineb 1 haiguses |
| SH2B3SH2B adaptor protein 3 | Alati | Esineb 4 haiguses |
| SLC2A1solute carrier family 2 member 1 | Alati | Esineb 2 haiguses |
| SLC37A4solute carrier family 37 member 4 | Alati | Esineb 2 haiguses |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Alati | Esineb 5 haiguses |
| SPIN4spindlin family member 4 | Alati | Esineb 1 haiguses |
| SPTBspectrin beta, erythrocytic | Alati | Esineb 3 haiguses |
| STX11syntaxin 11 | Alati | Esineb 2 haiguses |
| STXBP2syntaxin binding protein 2 | Alati | Esineb 2 haiguses |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Alati | Esineb 2 haiguses |
| TNFRSF9TNF receptor superfamily member 9 | Alati | Esineb 1 haiguses |
| TRAF3TNF receptor associated factor 3 | Alati | Esineb 1 haiguses |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Alati | Esineb 1 haiguses |
| UROSuroporphyrinogen III synthase | Alati | Esineb 2 haiguses |
| VPS45vacuolar protein sorting 45 homolog | Alati | Esineb 1 haiguses |
| WASWASP actin nucleation promoting factor | Alati | Esineb 1 haiguses |
| ADA2adenosine deaminase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ALPK1alpha kinase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARSBarylsulfatase B | Väga sageli (80–99%) | Esineb 1 haiguses |
| CASKcalcium/calmodulin dependent serine protein kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| CASRcalcium sensing receptor | Väga sageli (80–99%) | Esineb 2 haiguses |
| CLCN7Cl-/H+ antiporter 7 | Väga sageli (80–99%) | Esineb 3 haiguses |
| CLDN1claudin 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| F5coagulation factor V | Väga sageli (80–99%) | Esineb 1 haiguses |
| FASFas cell surface death receptor | Väga sageli (80–99%) | Esineb 3 haiguses |
| FASLGFas ligand | Väga sageli (80–99%) | Esineb 2 haiguses |
| G6PDglucose-6-phosphate dehydrogenase | Väga sageli (80–99%) | Esineb 1 haiguses |
| GATA1GATA binding protein 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| GLB1galactosidase beta 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GPC3glypican 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| GPC4glypican 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HBG1hemoglobin subunit gamma 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| HBG2hemoglobin subunit gamma 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| IDUAalpha-L-iduronidase | Väga sageli (80–99%) | Esineb 5 haiguses |
| LRBALPS responsive beige-like anchor protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| MVKmevalonate kinase | Väga sageli (80–99%) | Esineb 2 haiguses |
| NEU1neuraminidase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NLRP3NLR family pyrin domain containing 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| OTCornithine transcarbamylase | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRF1perforin 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| RAB27ARAB27A, member RAS oncogene family | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAG1recombination activating 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| SCARB2scavenger receptor class B member 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMPD1sphingomyelin phosphodiesterase 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| SNX10sorting nexin 10 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SUMF1sulfatase modifying factor 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TLR8toll like receptor 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TNFSF11TNF superfamily member 11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Väga sageli (80–99%) | Esineb 1 haiguses |
| XIAPX-linked inhibitor of apoptosis | Väga sageli (80–99%) | Esineb 3 haiguses |
| ABCG5ATP binding cassette subfamily G member 5 | Sageli (30–79%) | Esineb 1 haiguses |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| ADAadenosine deaminase | Sageli (30–79%) | Esineb 2 haiguses |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Sageli (30–79%) | Esineb 1 haiguses |
| AFF4ALF transcription elongation factor 4 | Sageli (30–79%) | Esineb 1 haiguses |
| ANK1ankyrin 1 | Sageli (30–79%) | Esineb 3 haiguses |
| ATMATM serine/threonine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BCL2BCL2 apoptosis regulator | Sageli (30–79%) | Esineb 1 haiguses |
| BCL6BCL6 transcription repressor | Sageli (30–79%) | Esineb 1 haiguses |
| BCRBCR activator of RhoGEF and GTPase | Sageli (30–79%) | Esineb 1 haiguses |
| CAVIN1caveolae associated protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CBLCbl proto-oncogene | Sageli (30–79%) | Esineb 1 haiguses |
| CCBE1collagen and calcium binding EGF domains 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CCDC47coiled-coil domain containing 47 | Sageli (30–79%) | Esineb 1 haiguses |
| CCND1cyclin D1 | Sageli (30–79%) | Esineb 2 haiguses |
| CD28CD28 molecule | Sageli (30–79%) | Esineb 2 haiguses |
| CD4CD4 molecule | Sageli (30–79%) | Esineb 1 haiguses |
| CHD7chromodomain helicase DNA binding protein 7 | Sageli (30–79%) | Esineb 1 haiguses |
| COG6component of oligomeric golgi complex 6 | Sageli (30–79%) | Esineb 1 haiguses |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Sageli (30–79%) | Esineb 1 haiguses |
| COX4I2cytochrome c oxidase subunit 4I2 | Sageli (30–79%) | Esineb 1 haiguses |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Sageli (30–79%) | Esineb 4 haiguses |
| DOCK11dedicator of cytokinesis 11 | Sageli (30–79%) | Esineb 1 haiguses |
| DZIP1LDAZ interacting zinc finger protein 1 like | Sageli (30–79%) | Esineb 1 haiguses |
| FAHfumarylacetoacetate hydrolase | Sageli (30–79%) | Esineb 2 haiguses |
| FAT4FAT atypical cadherin 4 | Sageli (30–79%) | Esineb 1 haiguses |
| FCHO1FCH and mu domain containing endocytic adaptor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FERMT3FERM domain containing kindlin 3 | Sageli (30–79%) | Esineb 1 haiguses |
| FOCADfocadhesin | Sageli (30–79%) | Esineb 1 haiguses |
| GATA2GATA binding protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| GEMIN4gem nuclear organelle associated protein 4 | Sageli (30–79%) | Esineb 1 haiguses |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| GNSglucosamine (N-acetyl)-6-sulfatase | Sageli (30–79%) | Esineb 1 haiguses |
| GPD1glycerol-3-phosphate dehydrogenase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GPIglucose-6-phosphate isomerase | Sageli (30–79%) | Esineb 2 haiguses |
| GPR35G protein-coupled receptor 35 | Sageli (30–79%) | Esineb 1 haiguses |
| GUSBglucuronidase beta | Sageli (30–79%) | Esineb 2 haiguses |
| HBA1hemoglobin subunit alpha 1 | Sageli (30–79%) | Esineb 2 haiguses |
| HBA2hemoglobin subunit alpha 2 | Sageli (30–79%) | Esineb 2 haiguses |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Sageli (30–79%) | Esineb 3 haiguses |
| HMBShydroxymethylbilane synthase | Sageli (30–79%) | Esineb 1 haiguses |
| HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Sageli (30–79%) | Esineb 2 haiguses |
| IFIH1interferon induced with helicase C domain 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT56intraflagellar transport 56 | Sageli (30–79%) | Esineb 1 haiguses |
| IGHimmunoglobulin heavy locus | Sageli (30–79%) | Esineb 2 haiguses |
| IKZF3IKAROS family zinc finger 3 | Sageli (30–79%) | Esineb 1 haiguses |
| IL2RGinterleukin 2 receptor subunit gamma | Sageli (30–79%) | Esineb 1 haiguses |
| IL7Rinterleukin 7 receptor | Sageli (30–79%) | Esineb 2 haiguses |
| INSRinsulin receptor | Sageli (30–79%) | Esineb 1 haiguses |
| IRF1interferon regulatory factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IRF4interferon regulatory factor 4 | Sageli (30–79%) | Esineb 2 haiguses |
| LPIN2lipin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| LYSTlysosomal trafficking regulator | Sageli (30–79%) | Esineb 2 haiguses |
| MMUTmethylmalonyl-CoA mutase | Sageli (30–79%) | Esineb 1 haiguses |
| MPIG6Bmegakaryocyte and platelet inhibitory receptor G6b | Sageli (30–79%) | Esineb 1 haiguses |
| MPV17mitochondrial inner membrane protein MPV17 | Sageli (30–79%) | Esineb 1 haiguses |
| MST1macrophage stimulating 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NAE1NEDD8 activating enzyme E1 subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NBEAL2neurobeachin like 2 | Sageli (30–79%) | Esineb 2 haiguses |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Sageli (30–79%) | Esineb 1 haiguses |
| NLRP1NLR family pyrin domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NLRP12NLR family pyrin domain containing 12 | Sageli (30–79%) | Esineb 1 haiguses |
| NPC1NPC intracellular cholesterol transporter 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NPC2NPC intracellular cholesterol transporter 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NPHP3nephrocystin 3 | Sageli (30–79%) | Esineb 2 haiguses |
| NRASNRAS proto-oncogene, GTPase | Sageli (30–79%) | Esineb 2 haiguses |
| NUDCD3NudC domain containing 3 | Sageli (30–79%) | Esineb 1 haiguses |
| PEPDpeptidase D | Sageli (30–79%) | Esineb 2 haiguses |
| PEX7peroxisomal biogenesis factor 7 | Sageli (30–79%) | Esineb 1 haiguses |
| PHYHphytanoyl-CoA 2-hydroxylase | Sageli (30–79%) | Esineb 1 haiguses |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Sageli (30–79%) | Esineb 3 haiguses |
| PIGMphosphatidylinositol glycan anchor biosynthesis class M | Sageli (30–79%) | Esineb 1 haiguses |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Sageli (30–79%) | Esineb 2 haiguses |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Sageli (30–79%) | Esineb 2 haiguses |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Sageli (30–79%) | Esineb 3 haiguses |
| PRKCDprotein kinase C delta | Sageli (30–79%) | Esineb 1 haiguses |
| PSMB10proteasome 20S subunit beta 10 | Sageli (30–79%) | Esineb 1 haiguses |
| PSMB8proteasome 20S subunit beta 8 | Sageli (30–79%) | Esineb 1 haiguses |
| PSMB9proteasome 20S subunit beta 9 | Sageli (30–79%) | Esineb 1 haiguses |
| RAG2recombination activating 2 | Sageli (30–79%) | Esineb 2 haiguses |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RBSNrabenosyn, RAB effector | Sageli (30–79%) | Esineb 1 haiguses |
| RFX5regulatory factor X5 | Sageli (30–79%) | Esineb 1 haiguses |
| RINT1RAD50 interactor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RIPK1receptor interacting serine/threonine kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Sageli (30–79%) | Esineb 1 haiguses |
| RUNX1RUNX family transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SAMD9Lsterile alpha motif domain containing 9 like | Sageli (30–79%) | Esineb 1 haiguses |
| SEMA4Dsemaphorin 4D | Sageli (30–79%) | Esineb 1 haiguses |
| SH2D1ASH2 domain containing 1A | Sageli (30–79%) | Esineb 1 haiguses |
| SHARPINSHANK associated RH domain interactor | Sageli (30–79%) | Esineb 1 haiguses |
| SLC19A1solute carrier family 19 member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC29A3solute carrier family 29 member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC30A10solute carrier family 30 member 10 | Sageli (30–79%) | Esineb 1 haiguses |
| SPTA1spectrin alpha, erythrocytic 1 | Sageli (30–79%) | Esineb 2 haiguses |
| STAT1signal transducer and activator of transcription 1 | Sageli (30–79%) | Esineb 1 haiguses |
| STEAP3STEAP3 metalloreductase | Sageli (30–79%) | Esineb 1 haiguses |
| STIM1stromal interaction molecule 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SYKspleen associated tyrosine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| TCF3transcription factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TCF4transcription factor 4 | Sageli (30–79%) | Esineb 1 haiguses |
| TET2tet methylcytosine dioxygenase 2 | Sageli (30–79%) | Esineb 4 haiguses |
| THPOthrombopoietin | Sageli (30–79%) | Esineb 2 haiguses |
| TNFRSF11ATNF receptor superfamily member 11a | Sageli (30–79%) | Esineb 1 haiguses |
| TNFRSF1ATNF receptor superfamily member 1A | Sageli (30–79%) | Esineb 1 haiguses |
| TNFRSF1BTNF receptor superfamily member 1B | Sageli (30–79%) | Esineb 2 haiguses |
| TP53tumor protein p53 | Sageli (30–79%) | Esineb 1 haiguses |
| TPP2tripeptidyl peptidase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TRACT cell receptor alpha constant | Sageli (30–79%) | Esineb 1 haiguses |
| TRNT1tRNA nucleotidyl transferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| UMPSuridine monophosphate synthetase | Sageli (30–79%) | Esineb 1 haiguses |
| UNC13Dunc-13 homolog D | Sageli (30–79%) | Esineb 1 haiguses |
| USP53ubiquitin specific peptidase 53 | Sageli (30–79%) | Esineb 1 haiguses |
| VPS33BVPS33B late endosome and lysosome associated | Sageli (30–79%) | Esineb 1 haiguses |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| YARS1tyrosyl-tRNA synthetase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| YME1L1YME1 like 1 ATPase | Sageli (30–79%) | Esineb 1 haiguses |
| ZFYVE19zinc finger FYVE-type containing 19 | Sageli (30–79%) | Esineb 1 haiguses |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADARadenosine deaminase RNA specific | Mõnikord (5–29%) | Esineb 1 haiguses |
| AGAaspartylglucosaminidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| AKT1AKT serine/threonine kinase 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ALAS25'-aminolevulinate synthase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALMS1ALMS1 centrosome and basal body associated protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARVCFARVCF delta catenin family member | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASXL1ASXL transcriptional regulator 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATRXATRX chromatin remodeler | Mõnikord (5–29%) | Esineb 1 haiguses |
| B4GALT1beta-1,4-galactosyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BCL11ABCL11 transcription factor A | Mõnikord (5–29%) | Esineb 1 haiguses |
| BMP6bone morphogenetic protein 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| C4Acomplement C4A (Chido/Rodgers blood group) | Mõnikord (5–29%) | Esineb 1 haiguses |
| CC2D2Acoiled-coil and C2 domain containing 2A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CCR1C-C motif chemokine receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CFAP410cilia and flagella associated protein 410 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CILK1ciliogenesis associated kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLPBClpB family mitochondrial disaggregase | Mõnikord (5–29%) | Esineb 1 haiguses |
| COG4component of oligomeric golgi complex 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COMTcatechol-O-methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CSPP1centrosome and spindle pole associated protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTC1CST telomere replication complex component 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CYBAcytochrome b-245 alpha chain | Mõnikord (5–29%) | Esineb 2 haiguses |
| CYBBcytochrome b-245 beta chain | Mõnikord (5–29%) | Esineb 2 haiguses |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHCR2424-dehydrocholesterol reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHRSXdehydrogenase/reductase X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| DKC1dyskerin pseudouridine synthase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNASE1L3deoxyribonuclease 1L3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EPB41erythrocyte membrane protein band 4.1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLIS3GLIS family zinc finger 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GP1BBglycoprotein Ib platelet subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| GYPCglycophorin C (Gerbich blood group) | Mõnikord (5–29%) | Esineb 1 haiguses |
| HFEhomeostatic iron regulator | Mõnikord (5–29%) | Esineb 2 haiguses |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| HIRAhistone cell cycle regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-Bmajor histocompatibility complex, class I, B | Mõnikord (5–29%) | Esineb 1 haiguses |
| HPGD15-hydroxyprostaglandin dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFNGR1interferon gamma receptor 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| IL10interleukin 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL12Ainterleukin 12A | Mõnikord (5–29%) | Esineb 2 haiguses |
| IL12A-AS1IL12A antisense RNA 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL12RB1interleukin 12 receptor subunit beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL23Rinterleukin 23 receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL6interleukin 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| INPP5Einositol polyphosphate-5-phosphatase E | Mõnikord (5–29%) | Esineb 1 haiguses |
| INPPL1inositol polyphosphate phosphatase like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IRF5interferon regulatory factor 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| JMJD1Cjumonji domain containing 1C | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM6Alysine demethylase 6A | Mõnikord (5–29%) | Esineb 1 haiguses |
| KITKIT proto-oncogene, receptor tyrosine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| KLRC4killer cell lectin like receptor C4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KMT2Dlysine methyltransferase 2D | Mõnikord (5–29%) | Esineb 1 haiguses |
| KPTNkaptin, actin binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| LACC1laccase domain multifunctional purine nucleosidase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LCATlecithin-cholesterol acyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MCTS1MCTS1 re-initiation and release factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEFVMEFV innate immunity regulator, pyrin | Mõnikord (5–29%) | Esineb 3 haiguses |
| MICU1mitochondrial calcium uptake 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MIFmacrophage migration inhibitory factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| MMEL1membrane metalloendopeptidase like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYD88MYD88 innate immune signal transduction adaptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYO5Bmyosin VB | Mõnikord (5–29%) | Esineb 1 haiguses |
| NCF1neutrophil cytosolic factor 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| NCF2neutrophil cytosolic factor 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| NCF4neutrophil cytosolic factor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEK8NIMA related kinase 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NGLY1N-glycanase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NHP2NHP2 ribonucleoprotein | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOD2nucleotide binding oligomerization domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOP10NOP10 ribonucleoprotein | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOTCH1notch receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOTCH2notch receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPM1nucleophosmin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PARNpoly(A)-specific ribonuclease | Mõnikord (5–29%) | Esineb 1 haiguses |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PHKBphosphorylase kinase regulatory subunit beta | Mõnikord (5–29%) | Esineb 2 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| POU2AF1POU class 2 homeobox associating factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPARGperoxisome proliferator activated receptor gamma | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTENphosphatase and tensin homolog | Mõnikord (5–29%) | Esineb 2 haiguses |
| RHAGRh associated glycoprotein | Mõnikord (5–29%) | Esineb 2 haiguses |
| RORCRAR related orphan receptor C | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPGRIP1LRPGRIP1 like | Mõnikord (5–29%) | Esineb 1 haiguses |
| RREB1ras responsive element binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RTEL1regulator of telomere elongation helicase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SAA1serum amyloid A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEC24CSEC24 homolog C, COPII component | Mõnikord (5–29%) | Esineb 1 haiguses |
| SF3B1splicing factor 3b subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SKIC3SKI3 subunit of superkiller complex | Mõnikord (5–29%) | Esineb 2 haiguses |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNX14sorting nexin 14 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SOCS1suppressor of cytokine signaling 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SOX10SRY-box transcription factor 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPIBSpi-B transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| SRSF2serine and arginine rich splicing factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STAT4signal transducer and activator of transcription 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TBXAS1thromboxane A synthase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TERCtelomerase RNA component | Mõnikord (5–29%) | Esineb 1 haiguses |
| TERTtelomerase reverse transcriptase | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGFB1transforming growth factor beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TINF2TERF1 interacting nuclear factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TLR4toll like receptor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM67transmembrane protein 67 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TNFSF15TNF superfamily member 15 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TNPO3transportin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TREX1three prime repair exonuclease 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TYMSthymidylate synthetase | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBAC2UBA domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| URODuroporphyrinogen decarboxylase | Mõnikord (5–29%) | Esineb 1 haiguses |
| VPS13Avacuolar protein sorting 13 homolog A | Mõnikord (5–29%) | Esineb 1 haiguses |
| WDR1WD repeat domain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| WRAP53WD repeat containing antisense to TP53 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLL4delta like canonical Notch ligand 4 | Harva (1–4%) | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Harva (1–4%) | Esineb 2 haiguses |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Harva (1–4%) | Esineb 2 haiguses |
| FOXP3forkhead box P3 | Harva (1–4%) | Esineb 1 haiguses |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Harva (1–4%) | Esineb 2 haiguses |
| HAVCR2hepatitis A virus cellular receptor 2 | Harva (1–4%) | Esineb 1 haiguses |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Harva (1–4%) | Esineb 2 haiguses |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Harva (1–4%) | Esineb 1 haiguses |
| SGSHN-sulfoglucosamine sulfohydrolase | Harva (1–4%) | Esineb 1 haiguses |
| SKIC2SKI2 subunit of superkiller complex | Harva (1–4%) | Esineb 1 haiguses |
| ABCA1ATP binding cassette subfamily A member 1 | Pole registreeritud | Esineb 1 haiguses |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| AKR1D1aldo-keto reductase family 1 member D1 | Pole registreeritud | Esineb 1 haiguses |
| ASAH1N-acylsphingosine amidohydrolase 1 | Pole registreeritud | Esineb 1 haiguses |
| BACH2BACH transcriptional regulator 2 | Pole registreeritud | Esineb 1 haiguses |
| BMP2bone morphogenetic protein 2 | Pole registreeritud | Esineb 1 haiguses |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Pole registreeritud | Esineb 1 haiguses |
| BTDbiotinidase | Pole registreeritud | Esineb 1 haiguses |
| BTNL2butyrophilin like 2 | Pole registreeritud | Esineb 1 haiguses |
| CAV1caveolin 1 | Pole registreeritud | Esineb 1 haiguses |
| CD19CD19 molecule | Pole registreeritud | Esineb 1 haiguses |
| CD40LGCD40 ligand | Pole registreeritud | Esineb 1 haiguses |
| CDAN1codanin 1 | Pole registreeritud | Esineb 1 haiguses |
| CDIN1CDAN1 interacting nuclease 1 | Pole registreeritud | Esineb 1 haiguses |
| CPOXcoproporphyrinogen oxidase | Pole registreeritud | Esineb 2 haiguses |
| CTNScystinosin, lysosomal cystine transporter | Pole registreeritud | Esineb 1 haiguses |
| DDRGK1DDRGK domain containing 1 | Pole registreeritud | Esineb 1 haiguses |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Pole registreeritud | Esineb 1 haiguses |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Pole registreeritud | Esineb 1 haiguses |
| EPORerythropoietin receptor | Pole registreeritud | Esineb 1 haiguses |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Pole registreeritud | Esineb 1 haiguses |
| FGAfibrinogen alpha chain | Pole registreeritud | Esineb 1 haiguses |
| FMO3flavin containing dimethylaniline monoxygenase 3 | Pole registreeritud | Esineb 1 haiguses |
| FUCA1alpha-L-fucosidase 1 | Pole registreeritud | Esineb 1 haiguses |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Pole registreeritud | Esineb 1 haiguses |
| GAAalpha glucosidase | Pole registreeritud | Esineb 1 haiguses |
| GALEUDP-galactose-4-epimerase | Pole registreeritud | Esineb 1 haiguses |
| GLRX5glutaredoxin 5 | Pole registreeritud | Esineb 1 haiguses |
| GP1BAglycoprotein Ib platelet subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| HAMPhepcidin antimicrobial peptide | Pole registreeritud | Esineb 1 haiguses |
| HJVhemojuvelin BMP co-receptor | Pole registreeritud | Esineb 1 haiguses |
| HK1hexokinase 1 | Pole registreeritud | Esineb 1 haiguses |
| ICOSinducible T cell costimulator | Pole registreeritud | Esineb 1 haiguses |
| IFNGinterferon gamma | Pole registreeritud | Esineb 1 haiguses |
| IFT172intraflagellar transport 172 | Pole registreeritud | Esineb 1 haiguses |
| IL1RNinterleukin 1 receptor antagonist | Pole registreeritud | Esineb 1 haiguses |
| IL2RBinterleukin 2 receptor subunit beta | Pole registreeritud | Esineb 1 haiguses |
| ITCHitchy E3 ubiquitin protein ligase | Pole registreeritud | Esineb 1 haiguses |
| LBRlamin B receptor | Pole registreeritud | Esineb 1 haiguses |
| LPLlipoprotein lipase | Pole registreeritud | Esineb 1 haiguses |
| MAN2B1mannosidase alpha class 2B member 1 | Pole registreeritud | Esineb 1 haiguses |
| MCM4minichromosome maintenance complex component 4 | Pole registreeritud | Esineb 1 haiguses |
| MKS1MKS transition zone complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| NAGLUN-acetyl-alpha-glucosaminidase | Pole registreeritud | Esineb 1 haiguses |
| OCLNoccludin | Pole registreeritud | Esineb 1 haiguses |
| PDGFRAplatelet derived growth factor receptor alpha | Pole registreeritud | Esineb 1 haiguses |
| PEX2peroxisomal biogenesis factor 2 | Pole registreeritud | Esineb 1 haiguses |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Pole registreeritud | Esineb 1 haiguses |
| PNPpurine nucleoside phosphorylase | Pole registreeritud | Esineb 1 haiguses |
| PSMB4proteasome 20S subunit beta 4 | Pole registreeritud | Esineb 1 haiguses |
| RHDRh blood group D antigen | Pole registreeritud | Esineb 1 haiguses |
| RNASEH2Aribonuclease H2 subunit A | Pole registreeritud | Esineb 1 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Pole registreeritud | Esineb 1 haiguses |
| SEC23BSEC23 homolog B, COPII component | Pole registreeritud | Esineb 1 haiguses |
| SLC17A5solute carrier family 17 member 5 | Pole registreeritud | Esineb 1 haiguses |
| SLC39A4solute carrier family 39 member 4 | Pole registreeritud | Esineb 1 haiguses |
| SLC7A7solute carrier family 7 member 7 | Pole registreeritud | Esineb 1 haiguses |
| TALDO1transaldolase 1 | Pole registreeritud | Esineb 1 haiguses |
| TNFRSF13BTNF receptor superfamily member 13B | Pole registreeritud | Esineb 1 haiguses |
| TNFRSF13CTNF receptor superfamily member 13C | Pole registreeritud | Esineb 1 haiguses |
| TNFRSF4TNF receptor superfamily member 4 | Pole registreeritud | Esineb 1 haiguses |
| TPI1triosephosphate isomerase 1 | Pole registreeritud | Esineb 1 haiguses |
| VMA22vacuolar ATPase assembly factor VMA22 | Pole registreeritud | Esineb 1 haiguses |
| WDR35WD repeat domain 35 | Pole registreeritud | Esineb 1 haiguses |
| ZAP70zeta chain of T cell receptor associated protein kinase 70 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.17-8666dff2.
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