Egenskap
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.
Sammendrag
- Også kalt
- 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
- Kroppssystem
- Abnormality of the musculoskeletal system
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Double-Jointed 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 |
|---|---|---|
| ACANaggrecan | Alltid | I 2 tilstander |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Alltid | I 2 tilstander |
| AEBP1AE binding protein 1 | Alltid | I 2 tilstander |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Alltid | I 4 tilstander |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Alltid | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Alltid | I 3 tilstander |
| BMP1bone morphogenetic protein 1 | Alltid | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Alltid | I 2 tilstander |
| CBLCbl proto-oncogene | Alltid | I 2 tilstander |
| CCNQcyclin Q | Alltid | I 1 tilstand |
| CDK10cyclin dependent kinase 10 | Alltid | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Alltid | I 1 tilstand |
| COL12A1collagen type XII alpha 1 chain | Alltid | I 3 tilstander |
| COL1A1collagen type I alpha 1 chain | Alltid | I 4 tilstander |
| COL1A2collagen type I alpha 2 chain | Alltid | I 4 tilstander |
| COL3A1collagen type III alpha 1 chain | Alltid | I 4 tilstander |
| COL5A2collagen type V alpha 2 chain | Alltid | I 1 tilstand |
| COL6A1collagen type VI alpha 1 chain | Alltid | I 2 tilstander |
| CREB3L1cAMP responsive element binding protein 3 like 1 | Alltid | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Alltid | I 4 tilstander |
| DCPSdecapping enzyme, scavenger | Alltid | I 1 tilstand |
| DNM1Ldynamin 1L | Alltid | I 1 tilstand |
| DSEdermatan sulfate epimerase | Alltid | I 1 tilstand |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Alltid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alltid | I 1 tilstand |
| EN1engrailed homeobox 1 | Alltid | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Alltid | I 3 tilstander |
| EXOC6Bexocyst complex component 6B | Alltid | I 1 tilstand |
| FARSAphenylalanyl-tRNA synthetase subunit alpha | Alltid | I 1 tilstand |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Alltid | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Alltid | I 2 tilstander |
| FKBP10FKBP prolyl isomerase 10 | Alltid | I 2 tilstander |
| GINS3GINS complex subunit 3 | Alltid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Alltid | I 1 tilstand |
| GZF1GDNF inducible zinc finger protein 1 | Alltid | I 1 tilstand |
| HEPHL1hephaestin like 1 | Alltid | I 1 tilstand |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Alltid | I 2 tilstander |
| IARS1isoleucyl-tRNA synthetase 1 | Alltid | I 2 tilstander |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Alltid | I 1 tilstand |
Vis 475 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| IFT56intraflagellar transport 56 | Alltid | I 1 tilstand |
| IL1RAPL1interleukin 1 receptor accessory protein like 1 | Alltid | I 1 tilstand |
| KCNK3potassium two pore domain channel subfamily K member 3 | Alltid | I 1 tilstand |
| KDELR2KDEL endoplasmic reticulum protein retention receptor 2 | Alltid | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Alltid | I 1 tilstand |
| LTBP4latent transforming growth factor beta binding protein 4 | Alltid | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Alltid | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| MED12mediator complex subunit 12 | Alltid | I 3 tilstander |
| NOTCH3notch receptor 3 | Alltid | I 2 tilstander |
| NSD1nuclear receptor binding SET domain protein 1 | Alltid | I 3 tilstander |
| PEX2peroxisomal biogenesis factor 2 | Alltid | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Alltid | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Alltid | I 2 tilstander |
| POLR1ARNA polymerase I subunit A | Alltid | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Alltid | I 1 tilstand |
| PRDM5PR/SET domain 5 | Alltid | I 2 tilstander |
| PTDSS1phosphatidylserine synthase 1 | Alltid | I 2 tilstander |
| PUM1pumilio RNA binding family member 1 | Alltid | I 1 tilstand |
| PYCR1pyrroline-5-carboxylate reductase 1 | Alltid | I 2 tilstander |
| RAP1BRAP1B, member of RAS oncogene family | Alltid | I 1 tilstand |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Alltid | I 1 tilstand |
| RIN2Ras and Rab interactor 2 | Alltid | I 2 tilstander |
| RMP64ribonuclease MRP subunit p64 | Alltid | I 1 tilstand |
| SCAF4SR-related CTD associated factor 4 | Alltid | I 1 tilstand |
| SCARF2scavenger receptor class F member 2 | Alltid | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Alltid | I 1 tilstand |
| SOBPsine oculis binding protein homolog | Alltid | I 1 tilstand |
| SPARCsecreted protein acidic and cysteine rich | Alltid | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Alltid | I 2 tilstander |
| TAF4TATA-box binding protein associated factor 4 | Alltid | I 1 tilstand |
| TENT5Aterminal nucleotidyltransferase 5A | Alltid | I 1 tilstand |
| TGDSTDP-glucose 4,6-dehydratase | Alltid | I 2 tilstander |
| THBS2thrombospondin 2 | Alltid | I 1 tilstand |
| TMEM165transmembrane protein 165 | Alltid | I 1 tilstand |
| TNXBtenascin XB | Alltid | I 2 tilstander |
| TRIP4thyroid hormone receptor interactor 4 | Alltid | I 2 tilstander |
| VPS13Bvacuolar protein sorting 13 homolog B | Alltid | I 2 tilstander |
| VPS37AVPS37A subunit of ESCRT-I | Alltid | I 2 tilstander |
| WDR19WD repeat domain 19 | Alltid | I 2 tilstander |
| WSB2WD repeat and SOCS box containing 2 | Alltid | I 1 tilstand |
| ZFXzinc finger protein X-linked | Alltid | I 1 tilstand |
| ZMYM3zinc finger MYM-type containing 3 | Alltid | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Svært ofte (80–99 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Svært ofte (80–99 %) | I 2 tilstander |
| ANTXR1ANTXR cell adhesion molecule 1 | Svært ofte (80–99 %) | I 2 tilstander |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Svært ofte (80–99 %) | I 2 tilstander |
| ATP7AATPase copper transporting alpha | Svært ofte (80–99 %) | I 4 tilstander |
| BCL11ABCL11 transcription factor A | Svært ofte (80–99 %) | I 1 tilstand |
| BGNbiglycan | Svært ofte (80–99 %) | I 2 tilstander |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 2 tilstander |
| CDC45cell division cycle 45 | Svært ofte (80–99 %) | I 2 tilstander |
| CDC6cell division cycle 6 | Svært ofte (80–99 %) | I 1 tilstand |
| CDT1chromatin licensing and DNA replication factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| COMPcartilage oligomeric matrix protein | Svært ofte (80–99 %) | I 2 tilstander |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CUL7cullin 7 | Svært ofte (80–99 %) | I 2 tilstander |
| DLK1delta like non-canonical Notch ligand 1 | Svært ofte (80–99 %) | I 3 tilstander |
| FGFR3fibroblast growth factor receptor 3 | Svært ofte (80–99 %) | I 2 tilstander |
| FKBP14FKBP prolyl isomerase 14 | Svært ofte (80–99 %) | I 1 tilstand |
| FLNAfilamin A | Svært ofte (80–99 %) | I 5 tilstander |
| FLNBfilamin B | Svært ofte (80–99 %) | I 2 tilstander |
| FMR1fragile X messenger ribonucleoprotein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| GANgigaxonin | Svært ofte (80–99 %) | I 1 tilstand |
| GMNNgeminin DNA replication inhibitor | Svært ofte (80–99 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| GORABgolgin, RAB6 interacting | Svært ofte (80–99 %) | I 1 tilstand |
| KIF22kinesin family member 22 | Svært ofte (80–99 %) | I 2 tilstander |
| KRASKRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Svært ofte (80–99 %) | I 3 tilstander |
| MRASmuscle RAS oncogene homolog | Svært ofte (80–99 %) | I 1 tilstand |
| NFIXnuclear factor I X | Svært ofte (80–99 %) | I 1 tilstand |
| NKAPNFKB activating protein | Svært ofte (80–99 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| ORC1origin recognition complex subunit 1 | Svært ofte (80–99 %) | I 2 tilstander |
| ORC4origin recognition complex subunit 4 | Svært ofte (80–99 %) | I 2 tilstander |
| ORC6origin recognition complex subunit 6 | Svært ofte (80–99 %) | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Svært ofte (80–99 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Svært ofte (80–99 %) | I 2 tilstander |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| RASA2RAS p21 protein activator 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Svært ofte (80–99 %) | I 4 tilstander |
| RPS6KA3ribosomal protein S6 kinase A3 | Svært ofte (80–99 %) | I 1 tilstand |
| RRASRAS related | Svært ofte (80–99 %) | I 1 tilstand |
| RRAS2RAS related 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Svært ofte (80–99 %) | I 3 tilstander |
| SLC2A10solute carrier family 2 member 10 | Svært ofte (80–99 %) | I 2 tilstander |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Svært ofte (80–99 %) | I 2 tilstander |
| TRIP11thyroid hormone receptor interactor 11 | Svært ofte (80–99 %) | I 2 tilstander |
| XYLT1xylosyltransferase 1 | Svært ofte (80–99 %) | I 3 tilstander |
| ZNF469zinc finger protein 469 | Svært ofte (80–99 %) | I 2 tilstander |
| 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 tilstander |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| C1Scomplement C1s | Ofte (30–79 %) | I 2 tilstander |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| COL5A1collagen type V alpha 1 chain | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| EFNB1ephrin B1 | Ofte (30–79 %) | I 2 tilstander |
| EIF5Aeukaryotic translation initiation factor 5A | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 3 tilstander |
| EMILIN1elastin microfibril interfacer 1 | Ofte (30–79 %) | I 1 tilstand |
| ERMARDER membrane associated RNA degradation | Ofte (30–79 %) | I 2 tilstander |
| EXT1exostosin glycosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| FBLN5fibulin 5 | Ofte (30–79 %) | I 4 tilstander |
| FBN1fibrillin 1 | Ofte (30–79 %) | I 4 tilstander |
| 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 tilstander |
| IFT43intraflagellar transport 43 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| KDM6Blysine demethylase 6B | Ofte (30–79 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| LTBP1latent transforming growth factor beta binding protein 1 | Ofte (30–79 %) | I 2 tilstander |
| MAN1B1mannosidase alpha class 1B member 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| NPR2natriuretic peptide receptor 2 | Ofte (30–79 %) | I 2 tilstander |
| NPR3natriuretic peptide receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| SEC23ASEC23 homolog A, COPII component | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| SIN3BSIN3 transcription regulator family member B | Ofte (30–79 %) | I 1 tilstand |
| SKISKI proto-oncogene | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| SMAD3SMAD family member 3 | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| STAG1STAG1 cohesin complex component | Ofte (30–79 %) | I 2 tilstander |
| STAT3signal transducer and activator of transcription 3 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| TGFB3transforming growth factor beta 3 | Ofte (30–79 %) | I 2 tilstander |
| TGFBR1transforming growth factor beta receptor 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Noen ganger (5–29 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Noen ganger (5–29 %) | I 1 tilstand |
| B4GALT7beta-1,4-galactosyltransferase 7 | Noen ganger (5–29 %) | I 2 tilstander |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Noen ganger (5–29 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Noen ganger (5–29 %) | I 1 tilstand |
| BCRBCR activator of RhoGEF and GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Noen ganger (5–29 %) | I 1 tilstand |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Noen ganger (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Noen ganger (5–29 %) | I 1 tilstand |
| CEP104centrosomal protein 104 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP19centrosomal protein 19 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Noen ganger (5–29 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Noen ganger (5–29 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COL18A1collagen type XVIII alpha 1 chain | Noen ganger (5–29 %) | I 2 tilstander |
| COL6A2collagen type VI alpha 2 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COL6A3collagen type VI alpha 3 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| CRKLCRK like proto-oncogene, adaptor protein | Noen ganger (5–29 %) | I 1 tilstand |
| CRTAPcartilage associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| CSNK2A1casein kinase 2 alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CTNND2catenin delta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CUL4Bcullin 4B | Noen ganger (5–29 %) | I 2 tilstander |
| DDRGK1DDRGK domain containing 1 | Noen ganger (5–29 %) | I 2 tilstander |
| DDX3XDEAD-box helicase 3 X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Noen ganger (5–29 %) | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Noen ganger (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Noen ganger (5–29 %) | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Noen ganger (5–29 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Noen ganger (5–29 %) | I 1 tilstand |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Noen ganger (5–29 %) | I 1 tilstand |
| FBXL3F-box and leucine rich repeat protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Noen ganger (5–29 %) | I 1 tilstand |
| FILIP1filamin A interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Noen ganger (5–29 %) | I 1 tilstand |
| FOCADfocadhesin | Noen ganger (5–29 %) | I 1 tilstand |
| GATAD2BGATA zinc finger domain containing 2B | Noen ganger (5–29 %) | I 1 tilstand |
| GDF11growth differentiation factor 11 | Noen ganger (5–29 %) | I 1 tilstand |
| GDF5growth differentiation factor 5 | Noen ganger (5–29 %) | I 1 tilstand |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Noen ganger (5–29 %) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Noen ganger (5–29 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Noen ganger (5–29 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| GPC4glypican 4 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Noen ganger (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Noen ganger (5–29 %) | I 1 tilstand |
| HNF1BHNF1 homeobox B | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Noen ganger (5–29 %) | I 2 tilstander |
| HYMAIhydatidiform mole associated and imprinted | Noen ganger (5–29 %) | I 1 tilstand |
| IFITM5interferon induced transmembrane protein 5 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Noen ganger (5–29 %) | I 1 tilstand |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Noen ganger (5–29 %) | I 1 tilstand |
| JARID2jumonji and AT-rich interaction domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Noen ganger (5–29 %) | I 1 tilstand |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Noen ganger (5–29 %) | I 2 tilstander |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Alysine methyltransferase 2A | Noen ganger (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LMNAlamin A/C | Noen ganger (5–29 %) | I 1 tilstand |
| LMNB2lamin B2 | Noen ganger (5–29 %) | I 1 tilstand |
| LOXlysyl oxidase | Noen ganger (5–29 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAMLD1mastermind like domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAPK1mitogen-activated protein kinase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MARK2microtubule affinity regulating kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Noen ganger (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Noen ganger (5–29 %) | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Noen ganger (5–29 %) | I 1 tilstand |
| MRE11MRE11 double strand break repair nuclease | Noen ganger (5–29 %) | I 1 tilstand |
| MSL2MSL complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MTM1myotubularin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NANSN-acetylneuraminate synthase | Noen ganger (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Noen ganger (5–29 %) | I 2 tilstander |
| NPHP1nephrocystin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| P4HBprolyl 4-hydroxylase subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| PAK2p21 (RAC1) activated kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PAX2paired box 2 | Noen ganger (5–29 %) | I 2 tilstander |
| PDE4Dphosphodiesterase 4D | Noen ganger (5–29 %) | I 1 tilstand |
| PHF6PHD finger protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Noen ganger (5–29 %) | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Noen ganger (5–29 %) | I 1 tilstand |
| PLAGL1PLAG1 like zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Noen ganger (5–29 %) | I 2 tilstander |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Noen ganger (5–29 %) | I 2 tilstander |
| PYCR2pyrroline-5-carboxylate reductase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RAC1Rac family small GTPase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| RFC2replication factor C subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Noen ganger (5–29 %) | I 1 tilstand |
| RNF125ring finger protein 125 | Noen ganger (5–29 %) | I 1 tilstand |
| RNF13ring finger protein 13 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Noen ganger (5–29 %) | I 2 tilstander |
| SCAPERS-phase cyclin A associated protein in the ER | Noen ganger (5–29 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Noen ganger (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Noen ganger (5–29 %) | I 1 tilstand |
| SEC24DSEC24 homolog D, COPII component | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA5Asemaphorin 5A | Noen ganger (5–29 %) | I 1 tilstand |
| SETSET nuclear proto-oncogene | Noen ganger (5–29 %) | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC39A8solute carrier family 39 member 8 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC6A8solute carrier family 6 member 8 | Noen ganger (5–29 %) | I 2 tilstander |
| SLC9A6solute carrier family 9 member A6 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SMOC1SPARC related modular calcium binding 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Noen ganger (5–29 %) | I 1 tilstand |
| STRADASTE20 related adaptor alpha | Noen ganger (5–29 %) | I 2 tilstander |
| STX1Asyntaxin 1A | Noen ganger (5–29 %) | I 1 tilstand |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Noen ganger (5–29 %) | I 1 tilstand |
| SYT1synaptotagmin 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TAOK1TAO kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TELO2telomere maintenance 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TET3tet methylcytosine dioxygenase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| THOC2THO complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Noen ganger (5–29 %) | I 1 tilstand |
| TNNC2troponin C2, fast skeletal type | Noen ganger (5–29 %) | I 1 tilstand |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Noen ganger (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Noen ganger (5–29 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Noen ganger (5–29 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Noen ganger (5–29 %) | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Noen ganger (5–29 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Noen ganger (5–29 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Noen ganger (5–29 %) | I 3 tilstander |
| VPS37DVPS37D subunit of ESCRT-I | Noen ganger (5–29 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Noen ganger (5–29 %) | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Noen ganger (5–29 %) | I 1 tilstand |
| ZMYM2zinc finger MYM-type containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Sjelden (1–4%) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjelden (1–4%) | I 1 tilstand |
| CTSKcathepsin K | Sjelden (1–4%) | I 1 tilstand |
| SLC35A2solute carrier family 35 member A2 | Sjelden (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjelden (1–4%) | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Sjelden (1–4%) | I 1 tilstand |
| TBR1T-box brain transcription factor 1 | Sjelden (1–4%) | I 1 tilstand |
| ZNF341zinc finger protein 341 | Sjelden (1–4%) | I 1 tilstand |
| AGAaspartylglucosaminidase | Ikke registrert | I 1 tilstand |
| AMMECR1AMMECR nuclear protein 1 | Ikke registrert | I 1 tilstand |
| ATN1atrophin 1 | Ikke registrert | I 1 tilstand |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Ikke registrert | I 1 tilstand |
| ATP7BATPase copper transporting beta | Ikke registrert | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Ikke registrert | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Ikke registrert | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Ikke registrert | I 1 tilstand |
| COLEC11collectin subfamily member 11 | Ikke registrert | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Ikke registrert | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Ikke registrert | I 1 tilstand |
| EEDembryonic ectoderm development | Ikke registrert | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Ikke registrert | I 1 tilstand |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Ikke registrert | I 1 tilstand |
| GLB1galactosidase beta 1 | Ikke registrert | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Ikke registrert | I 1 tilstand |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Ikke registrert | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Ikke registrert | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ikke registrert | I 1 tilstand |
| RETret proto-oncogene | Ikke registrert | I 1 tilstand |
| SERPINH1serpin family H member 1 | Ikke registrert | I 1 tilstand |
| SLC39A13solute carrier family 39 member 13 | Ikke registrert | I 1 tilstand |
| SLC6A9solute carrier family 6 member 9 | Ikke registrert | I 1 tilstand |
| TCTN3tectonic family member 3 | Ikke registrert | I 1 tilstand |
| TLK2tousled like kinase 2 | Ikke registrert | I 1 tilstand |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Ikke registrert | I 1 tilstand |
| VAMP1vesicle associated membrane protein 1 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
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Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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