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Træk
Double-Jointed
Klinisk navn: Joint hypermobility
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Resumé
- Også kaldet
- Flexible joints, Increased mobility of joints, Joints move beyond expected range of motion, Lax joints, Loose-jointedness, Extensible joints, Hyperextensible joints, Increased joint mobility, Joint hyperextensibility, Joint hyperflexibility, Joint hyperlaxity, Joint laxity
- Kropssystem
- Abnormality of the musculoskeletal system
AtlasHvem vi hjælperVores videnskabProdukterResultater
Log indSpørgSekvenér dit genom↗
Denne side som data
Tilføj .json til sidens adresse, eller bed om application/json, for at læse den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/joint-hypermobility.json"
page <- fromJSON(url)
page$trait$nameDouble-JointedHP:0001382
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Læs de gener, der er knyttet til Double-Jointed, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test515 gener knyttet til Double-Jointed
Ændringer i disse gener forårsager sjældne tilstande, hvor Double-Jointed 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 |
|---|---|---|
| ACANaggrecan | Altid | I 2 tilstande |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Altid | I 2 tilstande |
| AEBP1AE binding protein 1 | Altid | I 2 tilstande |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Altid | I 4 tilstande |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Altid | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Altid | I 3 tilstande |
| BMP1bone morphogenetic protein 1 | Altid | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Altid | I 2 tilstande |
| CBLCbl proto-oncogene | Altid | I 2 tilstande |
| CCNQcyclin Q | Altid | I 1 tilstand |
| CDK10cyclin dependent kinase 10 | Altid | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Altid | I 1 tilstand |
| COL12A1collagen type XII alpha 1 chain | Altid | I 3 tilstande |
| COL1A1collagen type I alpha 1 chain | Altid | I 4 tilstande |
| COL1A2collagen type I alpha 2 chain | Altid | I 4 tilstande |
| COL3A1collagen type III alpha 1 chain | Altid | I 4 tilstande |
| COL5A2collagen type V alpha 2 chain | Altid | I 1 tilstand |
| COL6A1collagen type VI alpha 1 chain | Altid | I 2 tilstande |
| CREB3L1cAMP responsive element binding protein 3 like 1 | Altid | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Altid | I 4 tilstande |
| DCPSdecapping enzyme, scavenger | Altid | I 1 tilstand |
| DNM1Ldynamin 1L | Altid | I 1 tilstand |
| DSEdermatan sulfate epimerase | Altid | I 1 tilstand |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Altid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altid | I 1 tilstand |
| EN1engrailed homeobox 1 | Altid | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Altid | I 3 tilstande |
| EXOC6Bexocyst complex component 6B | Altid | I 1 tilstand |
| FARSAphenylalanyl-tRNA synthetase subunit alpha | Altid | I 1 tilstand |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Altid | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Altid | I 2 tilstande |
| FKBP10FKBP prolyl isomerase 10 | Altid | I 2 tilstande |
| GINS3GINS complex subunit 3 | Altid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Altid | I 1 tilstand |
| GZF1GDNF inducible zinc finger protein 1 | Altid | I 1 tilstand |
| HEPHL1hephaestin like 1 | Altid | I 1 tilstand |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Altid | I 2 tilstande |
| IARS1isoleucyl-tRNA synthetase 1 | Altid | I 2 tilstande |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Altid | I 1 tilstand |
Vis 475 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| IFT56intraflagellar transport 56 | Altid | I 1 tilstand |
| IL1RAPL1interleukin 1 receptor accessory protein like 1 | Altid | I 1 tilstand |
| KCNK3potassium two pore domain channel subfamily K member 3 | Altid | I 1 tilstand |
| KDELR2KDEL endoplasmic reticulum protein retention receptor 2 | Altid | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Altid | I 1 tilstand |
| LTBP4latent transforming growth factor beta binding protein 4 | Altid | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Altid | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| MED12mediator complex subunit 12 | Altid | I 3 tilstande |
| NOTCH3notch receptor 3 | Altid | I 2 tilstande |
| NSD1nuclear receptor binding SET domain protein 1 | Altid | I 3 tilstande |
| PEX2peroxisomal biogenesis factor 2 | Altid | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Altid | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Altid | I 2 tilstande |
| POLR1ARNA polymerase I subunit A | Altid | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Altid | I 1 tilstand |
| PRDM5PR/SET domain 5 | Altid | I 2 tilstande |
| PTDSS1phosphatidylserine synthase 1 | Altid | I 2 tilstande |
| PUM1pumilio RNA binding family member 1 | Altid | I 1 tilstand |
| PYCR1pyrroline-5-carboxylate reductase 1 | Altid | I 2 tilstande |
| RAP1BRAP1B, member of RAS oncogene family | Altid | I 1 tilstand |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Altid | I 1 tilstand |
| RIN2Ras and Rab interactor 2 | Altid | I 2 tilstande |
| RMP64ribonuclease MRP subunit p64 | Altid | I 1 tilstand |
| SCAF4SR-related CTD associated factor 4 | Altid | I 1 tilstand |
| SCARF2scavenger receptor class F member 2 | Altid | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Altid | I 1 tilstand |
| SOBPsine oculis binding protein homolog | Altid | I 1 tilstand |
| SPARCsecreted protein acidic and cysteine rich | Altid | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Altid | I 2 tilstande |
| TAF4TATA-box binding protein associated factor 4 | Altid | I 1 tilstand |
| TENT5Aterminal nucleotidyltransferase 5A | Altid | I 1 tilstand |
| TGDSTDP-glucose 4,6-dehydratase | Altid | I 2 tilstande |
| THBS2thrombospondin 2 | Altid | I 1 tilstand |
| TMEM165transmembrane protein 165 | Altid | I 1 tilstand |
| TNXBtenascin XB | Altid | I 2 tilstande |
| TRIP4thyroid hormone receptor interactor 4 | Altid | I 2 tilstande |
| VPS13Bvacuolar protein sorting 13 homolog B | Altid | I 2 tilstande |
| VPS37AVPS37A subunit of ESCRT-I | Altid | I 2 tilstande |
| WDR19WD repeat domain 19 | Altid | I 2 tilstande |
| WSB2WD repeat and SOCS box containing 2 | Altid | I 1 tilstand |
| ZFXzinc finger protein X-linked | Altid | I 1 tilstand |
| ZMYM3zinc finger MYM-type containing 3 | Altid | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Meget ofte (80–99 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ANTXR1ANTXR cell adhesion molecule 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Meget ofte (80–99 %) | I 2 tilstande |
| ATP7AATPase copper transporting alpha | Meget ofte (80–99 %) | I 4 tilstande |
| BCL11ABCL11 transcription factor A | Meget ofte (80–99 %) | I 1 tilstand |
| BGNbiglycan | Meget ofte (80–99 %) | I 2 tilstande |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Meget ofte (80–99 %) | I 2 tilstande |
| CDC45cell division cycle 45 | Meget ofte (80–99 %) | I 2 tilstande |
| CDC6cell division cycle 6 | Meget ofte (80–99 %) | I 1 tilstand |
| CDT1chromatin licensing and DNA replication factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| COMPcartilage oligomeric matrix protein | Meget ofte (80–99 %) | I 2 tilstande |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CUL7cullin 7 | Meget ofte (80–99 %) | I 2 tilstande |
| DLK1delta like non-canonical Notch ligand 1 | Meget ofte (80–99 %) | I 3 tilstande |
| FGFR3fibroblast growth factor receptor 3 | Meget ofte (80–99 %) | I 2 tilstande |
| FKBP14FKBP prolyl isomerase 14 | Meget ofte (80–99 %) | I 1 tilstand |
| FLNAfilamin A | Meget ofte (80–99 %) | I 5 tilstande |
| FLNBfilamin B | Meget ofte (80–99 %) | I 2 tilstande |
| FMR1fragile X messenger ribonucleoprotein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| GANgigaxonin | Meget ofte (80–99 %) | I 1 tilstand |
| GMNNgeminin DNA replication inhibitor | Meget ofte (80–99 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Meget ofte (80–99 %) | I 1 tilstand |
| GORABgolgin, RAB6 interacting | Meget ofte (80–99 %) | I 1 tilstand |
| KIF22kinesin family member 22 | Meget ofte (80–99 %) | I 2 tilstande |
| KRASKRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Meget ofte (80–99 %) | I 3 tilstande |
| MRASmuscle RAS oncogene homolog | Meget ofte (80–99 %) | I 1 tilstand |
| NFIXnuclear factor I X | Meget ofte (80–99 %) | I 1 tilstand |
| NKAPNFKB activating protein | Meget ofte (80–99 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| ORC1origin recognition complex subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ORC4origin recognition complex subunit 4 | Meget ofte (80–99 %) | I 2 tilstande |
| ORC6origin recognition complex subunit 6 | Meget ofte (80–99 %) | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Meget ofte (80–99 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Meget ofte (80–99 %) | I 2 tilstande |
| 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 |
| RIT1Ras like without CAAX 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Meget ofte (80–99 %) | I 4 tilstande |
| RPS6KA3ribosomal protein S6 kinase A3 | Meget ofte (80–99 %) | I 1 tilstand |
| RRASRAS related | Meget ofte (80–99 %) | I 1 tilstand |
| RRAS2RAS related 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Meget ofte (80–99 %) | I 3 tilstande |
| SLC2A10solute carrier family 2 member 10 | Meget ofte (80–99 %) | I 2 tilstande |
| 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 |
| TGFBR2transforming growth factor beta receptor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| TRIP11thyroid hormone receptor interactor 11 | Meget ofte (80–99 %) | I 2 tilstande |
| XYLT1xylosyltransferase 1 | Meget ofte (80–99 %) | I 3 tilstande |
| ZNF469zinc finger protein 469 | Meget ofte (80–99 %) | I 2 tilstande |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| ADGRL1adhesion G protein-coupled receptor L1 | Ofte (30–79 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Ofte (30–79 %) | I 2 tilstande |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ofte (30–79 %) | I 2 tilstande |
| ANKRD17ankyrin repeat domain 17 | Ofte (30–79 %) | I 1 tilstand |
| ANKRD55ankyrin repeat domain 55 | Ofte (30–79 %) | I 1 tilstand |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Ofte (30–79 %) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Ofte (30–79 %) | I 1 tilstand |
| ARCN1archain 1 coat protein complex I subunit delta | Ofte (30–79 %) | I 1 tilstand |
| ARF1ARF GTPase 1 | Ofte (30–79 %) | I 1 tilstand |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Ofte (30–79 %) | I 1 tilstand |
| ARID1AAT-rich interaction domain 1A | Ofte (30–79 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ofte (30–79 %) | I 2 tilstande |
| ARID2AT-rich interaction domain 2 | Ofte (30–79 %) | I 1 tilstand |
| ASPHaspartate beta-hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Ofte (30–79 %) | I 1 tilstand |
| ATRATR checkpoint kinase | Ofte (30–79 %) | I 1 tilstand |
| ATRIPATR interacting protein | Ofte (30–79 %) | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Ofte (30–79 %) | I 1 tilstand |
| C1Rcomplement C1r | Ofte (30–79 %) | I 2 tilstande |
| C1Scomplement C1s | Ofte (30–79 %) | I 2 tilstande |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Ofte (30–79 %) | I 2 tilstande |
| CD247CD247 molecule | Ofte (30–79 %) | I 1 tilstand |
| CDK13cyclin dependent kinase 13 | Ofte (30–79 %) | I 1 tilstand |
| CENPEcentromere protein E | Ofte (30–79 %) | I 1 tilstand |
| CEP152centrosomal protein 152 | Ofte (30–79 %) | I 1 tilstand |
| CEP295centrosomal protein 295 | Ofte (30–79 %) | I 1 tilstand |
| CEP63centrosomal protein 63 | Ofte (30–79 %) | I 1 tilstand |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Ofte (30–79 %) | I 1 tilstand |
| CHD3chromodomain helicase DNA binding protein 3 | Ofte (30–79 %) | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Ofte (30–79 %) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Ofte (30–79 %) | I 2 tilstande |
| COL5A1collagen type V alpha 1 chain | Ofte (30–79 %) | I 2 tilstande |
| COL9A1collagen type IX alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COL9A2collagen type IX alpha 2 chain | Ofte (30–79 %) | I 1 tilstand |
| COL9A3collagen type IX alpha 3 chain | Ofte (30–79 %) | I 1 tilstand |
| CPAPcentrosome assembly and centriole elongation protein | Ofte (30–79 %) | I 1 tilstand |
| DBHdopamine beta-hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| DDB1damage specific DNA binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| DEAF1DEAF1 transcription factor | Ofte (30–79 %) | I 1 tilstand |
| DHX30DExH-box helicase 30 | Ofte (30–79 %) | I 1 tilstand |
| DLG4discs large MAGUK scaffold protein 4 | Ofte (30–79 %) | I 1 tilstand |
| DNA2DNA replication helicase/nuclease 2 | Ofte (30–79 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Ofte (30–79 %) | I 1 tilstand |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Ofte (30–79 %) | I 2 tilstande |
| EFNB1ephrin B1 | Ofte (30–79 %) | I 2 tilstande |
| EIF5Aeukaryotic translation initiation factor 5A | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 3 tilstande |
| EMILIN1elastin microfibril interfacer 1 | Ofte (30–79 %) | I 1 tilstand |
| ERMARDER membrane associated RNA degradation | Ofte (30–79 %) | I 2 tilstande |
| EXT1exostosin glycosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| FBLN5fibulin 5 | Ofte (30–79 %) | I 4 tilstande |
| FBN1fibrillin 1 | Ofte (30–79 %) | I 4 tilstande |
| FERRY3FERRY endosomal RAB5 effector complex subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| H4C9H4 clustered histone 9 | Ofte (30–79 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Ofte (30–79 %) | I 1 tilstand |
| HOXD13homeobox D13 | Ofte (30–79 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Ofte (30–79 %) | I 1 tilstand |
| IFT122intraflagellar transport 122 | Ofte (30–79 %) | I 2 tilstande |
| IFT43intraflagellar transport 43 | Ofte (30–79 %) | I 2 tilstande |
| IFT52intraflagellar transport 52 | Ofte (30–79 %) | I 1 tilstand |
| IL2RAinterleukin 2 receptor subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| IL2RBinterleukin 2 receptor subunit beta | Ofte (30–79 %) | I 1 tilstand |
| IL6STinterleukin 6 cytokine family signal transducer | Ofte (30–79 %) | I 1 tilstand |
| IPO8importin 8 | Ofte (30–79 %) | I 2 tilstande |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Ofte (30–79 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Ofte (30–79 %) | I 1 tilstand |
| KDM1Alysine demethylase 1A | Ofte (30–79 %) | I 1 tilstand |
| KDM3Blysine demethylase 3B | Ofte (30–79 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Ofte (30–79 %) | I 3 tilstande |
| KDM6Blysine demethylase 6B | Ofte (30–79 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Ofte (30–79 %) | I 2 tilstande |
| LBRlamin B receptor | Ofte (30–79 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| LOXL3lysyl oxidase like 3 | Ofte (30–79 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Ofte (30–79 %) | I 2 tilstande |
| LTBP1latent transforming growth factor beta binding protein 1 | Ofte (30–79 %) | I 2 tilstande |
| MAN1B1mannosidase alpha class 1B member 1 | Ofte (30–79 %) | I 2 tilstande |
| MAP1Bmicrotubule associated protein 1B | Ofte (30–79 %) | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Ofte (30–79 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| MLXIPLMLX interacting protein like | Ofte (30–79 %) | I 1 tilstand |
| NAE1NEDD8 activating enzyme E1 subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Ofte (30–79 %) | I 1 tilstand |
| NF1neurofibromin 1 | Ofte (30–79 %) | I 1 tilstand |
| NINninein | Ofte (30–79 %) | I 1 tilstand |
| NOTCH2notch receptor 2 | Ofte (30–79 %) | I 2 tilstande |
| NPR2natriuretic peptide receptor 2 | Ofte (30–79 %) | I 2 tilstande |
| NPR3natriuretic peptide receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Ofte (30–79 %) | I 2 tilstande |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Ofte (30–79 %) | I 1 tilstand |
| NUP85nucleoporin 85 | Ofte (30–79 %) | I 1 tilstand |
| OBSL1obscurin like cytoskeletal adaptor 1 | Ofte (30–79 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Ofte (30–79 %) | I 2 tilstande |
| P3H1prolyl 3-hydroxylase 1 | Ofte (30–79 %) | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Ofte (30–79 %) | I 1 tilstand |
| PCNTpericentrin | Ofte (30–79 %) | I 2 tilstande |
| PGM2L1phosphoglucomutase 2 like 1 | Ofte (30–79 %) | I 1 tilstand |
| PGM3phosphoglucomutase 3 | Ofte (30–79 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Ofte (30–79 %) | I 1 tilstand |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Ofte (30–79 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ofte (30–79 %) | I 2 tilstande |
| PLK4polo like kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | 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 |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PTCH1patched 1 | Ofte (30–79 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Ofte (30–79 %) | I 2 tilstande |
| PTHLHparathyroid hormone like hormone | Ofte (30–79 %) | I 1 tilstand |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Ofte (30–79 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Ofte (30–79 %) | I 1 tilstand |
| PUS1pseudouridine synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Ofte (30–79 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Ofte (30–79 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Ofte (30–79 %) | I 1 tilstand |
| RBBP8RB binding protein 8, endonuclease | Ofte (30–79 %) | I 1 tilstand |
| RECQLRecQ like helicase | Ofte (30–79 %) | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Ofte (30–79 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| RUSC2RUN and SH3 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Ofte (30–79 %) | I 5 tilstande |
| SEC23ASEC23 homolog A, COPII component | Ofte (30–79 %) | I 2 tilstande |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Ofte (30–79 %) | I 3 tilstande |
| SIN3BSIN3 transcription regulator family member B | Ofte (30–79 %) | I 1 tilstand |
| SKISKI proto-oncogene | Ofte (30–79 %) | I 2 tilstande |
| SLC10A7solute carrier family 10 member 7 | Ofte (30–79 %) | I 1 tilstand |
| SLC35B2solute carrier family 35 member B2 | Ofte (30–79 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Ofte (30–79 %) | I 2 tilstande |
| SMAD3SMAD family member 3 | Ofte (30–79 %) | I 3 tilstande |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Ofte (30–79 %) | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ofte (30–79 %) | I 2 tilstande |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Ofte (30–79 %) | I 1 tilstand |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Ofte (30–79 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Ofte (30–79 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Ofte (30–79 %) | I 2 tilstande |
| SOX11SRY-box transcription factor 11 | Ofte (30–79 %) | I 1 tilstand |
| SOX4SRY-box transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| SPARTspartin | Ofte (30–79 %) | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Ofte (30–79 %) | I 2 tilstande |
| STAG1STAG1 cohesin complex component | Ofte (30–79 %) | I 2 tilstande |
| STAT3signal transducer and activator of transcription 3 | Ofte (30–79 %) | I 2 tilstande |
| STAT4signal transducer and activator of transcription 4 | Ofte (30–79 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Ofte (30–79 %) | I 2 tilstande |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Ofte (30–79 %) | I 1 tilstand |
| TCF12transcription factor 12 | Ofte (30–79 %) | I 1 tilstand |
| TGFB2transforming growth factor beta 2 | Ofte (30–79 %) | I 2 tilstande |
| TGFB3transforming growth factor beta 3 | Ofte (30–79 %) | I 2 tilstande |
| TGFBR1transforming growth factor beta receptor 1 | Ofte (30–79 %) | I 2 tilstande |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Ofte (30–79 %) | I 1 tilstand |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Ofte (30–79 %) | I 1 tilstand |
| TRAIPTRAF interacting protein | Ofte (30–79 %) | I 1 tilstand |
| TRIM33tripartite motif containing 33 | Ofte (30–79 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Ofte (30–79 %) | I 2 tilstande |
| TRPS1transcriptional repressor GATA binding 1 | Ofte (30–79 %) | I 1 tilstand |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Ofte (30–79 %) | I 1 tilstand |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Ofte (30–79 %) | I 1 tilstand |
| WASF1WASP family member 1 | Ofte (30–79 %) | I 1 tilstand |
| WDR35WD repeat domain 35 | Ofte (30–79 %) | I 2 tilstande |
| WNT1Wnt family member 1 | Ofte (30–79 %) | I 1 tilstand |
| YARS1tyrosyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Ofte (30–79 %) | I 1 tilstand |
| ZDHHC9zDHHC palmitoyltransferase 9 | Ofte (30–79 %) | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ABCC6ATP binding cassette subfamily C member 6 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Nogle gange (5–29 %) | I 1 tilstand |
| B4GALT7beta-1,4-galactosyltransferase 7 | Nogle gange (5–29 %) | I 2 tilstande |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Nogle gange (5–29 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Nogle gange (5–29 %) | I 1 tilstand |
| BCRBCR activator of RhoGEF and GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Nogle gange (5–29 %) | I 1 tilstand |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Nogle gange (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Nogle gange (5–29 %) | I 1 tilstand |
| CEP104centrosomal protein 104 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP19centrosomal protein 19 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Nogle gange (5–29 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Nogle gange (5–29 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COL18A1collagen type XVIII alpha 1 chain | Nogle gange (5–29 %) | I 2 tilstande |
| COL6A2collagen type VI alpha 2 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COL6A3collagen type VI alpha 3 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| CRKLCRK like proto-oncogene, adaptor protein | Nogle gange (5–29 %) | I 1 tilstand |
| CRTAPcartilage associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| CSNK2A1casein kinase 2 alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTNND2catenin delta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CUL4Bcullin 4B | Nogle gange (5–29 %) | I 2 tilstande |
| DDRGK1DDRGK domain containing 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DDX3XDEAD-box helicase 3 X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Nogle gange (5–29 %) | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Nogle gange (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Nogle gange (5–29 %) | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Nogle gange (5–29 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Nogle gange (5–29 %) | I 1 tilstand |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Nogle gange (5–29 %) | I 1 tilstand |
| FBXL3F-box and leucine rich repeat protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Nogle gange (5–29 %) | I 1 tilstand |
| FILIP1filamin A interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Nogle gange (5–29 %) | I 1 tilstand |
| FOCADfocadhesin | Nogle gange (5–29 %) | I 1 tilstand |
| GATAD2BGATA zinc finger domain containing 2B | Nogle gange (5–29 %) | I 1 tilstand |
| GDF11growth differentiation factor 11 | Nogle gange (5–29 %) | I 1 tilstand |
| GDF5growth differentiation factor 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Nogle gange (5–29 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Nogle gange (5–29 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| GPC4glypican 4 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Nogle gange (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Nogle gange (5–29 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Nogle gange (5–29 %) | I 1 tilstand |
| HNF1BHNF1 homeobox B | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Nogle gange (5–29 %) | I 2 tilstande |
| HYMAIhydatidiform mole associated and imprinted | Nogle gange (5–29 %) | I 1 tilstand |
| IFITM5interferon induced transmembrane protein 5 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Nogle gange (5–29 %) | I 1 tilstand |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Nogle gange (5–29 %) | I 1 tilstand |
| JARID2jumonji and AT-rich interaction domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Nogle gange (5–29 %) | I 1 tilstand |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Nogle gange (5–29 %) | I 2 tilstande |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| KMT2Alysine methyltransferase 2A | Nogle gange (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LMNAlamin A/C | Nogle gange (5–29 %) | I 1 tilstand |
| LMNB2lamin B2 | Nogle gange (5–29 %) | I 1 tilstand |
| LOXlysyl oxidase | Nogle gange (5–29 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAMLD1mastermind like domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAPK1mitogen-activated protein kinase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MARK2microtubule affinity regulating kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Nogle gange (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Nogle gange (5–29 %) | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Nogle gange (5–29 %) | I 1 tilstand |
| MRE11MRE11 double strand break repair nuclease | Nogle gange (5–29 %) | I 1 tilstand |
| MSL2MSL complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MTM1myotubularin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NANSN-acetylneuraminate synthase | Nogle gange (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Nogle gange (5–29 %) | I 2 tilstande |
| NPHP1nephrocystin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| P4HBprolyl 4-hydroxylase subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| PAK2p21 (RAC1) activated kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PAX2paired box 2 | Nogle gange (5–29 %) | I 2 tilstande |
| PDE4Dphosphodiesterase 4D | Nogle gange (5–29 %) | I 1 tilstand |
| PHF6PHD finger protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Nogle gange (5–29 %) | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Nogle gange (5–29 %) | I 1 tilstand |
| PLAGL1PLAG1 like zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Nogle gange (5–29 %) | I 2 tilstande |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Nogle gange (5–29 %) | I 1 tilstand |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Nogle gange (5–29 %) | I 2 tilstande |
| PYCR2pyrroline-5-carboxylate reductase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RAC1Rac family small GTPase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| RFC2replication factor C subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF125ring finger protein 125 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF13ring finger protein 13 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Nogle gange (5–29 %) | I 2 tilstande |
| SCAPERS-phase cyclin A associated protein in the ER | Nogle gange (5–29 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Nogle gange (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Nogle gange (5–29 %) | I 1 tilstand |
| SEC24DSEC24 homolog D, COPII component | Nogle gange (5–29 %) | I 1 tilstand |
| SEMA5Asemaphorin 5A | Nogle gange (5–29 %) | I 1 tilstand |
| SETSET nuclear proto-oncogene | Nogle gange (5–29 %) | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC39A8solute carrier family 39 member 8 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC6A8solute carrier family 6 member 8 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC9A6solute carrier family 9 member A6 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SMOC1SPARC related modular calcium binding 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Nogle gange (5–29 %) | I 1 tilstand |
| STRADASTE20 related adaptor alpha | Nogle gange (5–29 %) | I 2 tilstande |
| STX1Asyntaxin 1A | Nogle gange (5–29 %) | I 1 tilstand |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Nogle gange (5–29 %) | I 1 tilstand |
| SYT1synaptotagmin 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TAOK1TAO kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TELO2telomere maintenance 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TET3tet methylcytosine dioxygenase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| THOC2THO complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Nogle gange (5–29 %) | I 1 tilstand |
| TNNC2troponin C2, fast skeletal type | Nogle gange (5–29 %) | I 1 tilstand |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Nogle gange (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Nogle gange (5–29 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Nogle gange (5–29 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Nogle gange (5–29 %) | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Nogle gange (5–29 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Nogle gange (5–29 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Nogle gange (5–29 %) | I 3 tilstande |
| VPS37DVPS37D subunit of ESCRT-I | Nogle gange (5–29 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Nogle gange (5–29 %) | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Nogle gange (5–29 %) | I 1 tilstand |
| ZMYM2zinc finger MYM-type containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Sjældent (1–4%) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjældent (1–4%) | I 1 tilstand |
| CTSKcathepsin K | Sjældent (1–4%) | I 1 tilstand |
| SLC35A2solute carrier family 35 member A2 | Sjældent (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjældent (1–4%) | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Sjældent (1–4%) | I 1 tilstand |
| TBR1T-box brain transcription factor 1 | Sjældent (1–4%) | I 1 tilstand |
| ZNF341zinc finger protein 341 | Sjældent (1–4%) | I 1 tilstand |
| AGAaspartylglucosaminidase | Ikke registreret | I 1 tilstand |
| AMMECR1AMMECR nuclear protein 1 | Ikke registreret | I 1 tilstand |
| ATN1atrophin 1 | Ikke registreret | I 1 tilstand |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Ikke registreret | I 1 tilstand |
| ATP7BATPase copper transporting beta | Ikke registreret | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Ikke registreret | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Ikke registreret | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Ikke registreret | I 1 tilstand |
| COLEC11collectin subfamily member 11 | Ikke registreret | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Ikke registreret | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Ikke registreret | I 1 tilstand |
| EEDembryonic ectoderm development | Ikke registreret | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Ikke registreret | I 1 tilstand |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Ikke registreret | I 1 tilstand |
| GLB1galactosidase beta 1 | Ikke registreret | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Ikke registreret | I 1 tilstand |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Ikke registreret | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Ikke registreret | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ikke registreret | I 1 tilstand |
| RETret proto-oncogene | Ikke registreret | I 1 tilstand |
| SERPINH1serpin family H member 1 | Ikke registreret | I 1 tilstand |
| SLC39A13solute carrier family 39 member 13 | Ikke registreret | I 1 tilstand |
| SLC6A9solute carrier family 6 member 9 | Ikke registreret | I 1 tilstand |
| TCTN3tectonic family member 3 | Ikke registreret | I 1 tilstand |
| TLK2tousled like kinase 2 | Ikke registreret | I 1 tilstand |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Ikke registreret | I 1 tilstand |
| VAMP1vesicle associated membrane protein 1 | 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 2026.10.17-8666dff2.
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