AtlasHvem vi hjælperVores videnskabProdukterResultater
Log indSpørgSekvenér dit genom↗
Træk
Inability to walk
Incapability to ambulate.
Resumé
- Også kaldet
- Non-ambulatory
- Kropssystem
- Abnormality of the nervous 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/inability-to-walk.json"
page <- fromJSON(url)
page$trait$nameInability to walkHP:0002540
AtlasHvem vi hjælperVores videnskabProdukterResultater
Log indSpørgSekvenér dit genom↗
Læs de gener, der er knyttet til Inability to walk, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test284 gener knyttet til Inability to walk
Ændringer i disse gener forårsager sjældne tilstande, hvor Inability to walk 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 |
|---|---|---|
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Altid | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Altid | I 2 tilstande |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Altid | I 1 tilstand |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Altid | I 1 tilstand |
| ARL6IP1ARL6 interacting reticulophagy regulator 1 | Altid | I 1 tilstand |
| ATXN7L3ataxin 7 like 3 | Altid | I 1 tilstand |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Altid | I 1 tilstand |
| COL4A2collagen type IV alpha 2 chain | Altid | I 1 tilstand |
| CPLX1complexin 1 | Altid | I 1 tilstand |
| CTNNA2catenin alpha 2 | Altid | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Altid | I 1 tilstand |
| ERLIN2ER lipid raft associated 2 | Altid | I 2 tilstande |
| ESAMendothelial cell adhesion molecule | Altid | I 1 tilstand |
| FCSKfucose kinase | Altid | I 1 tilstand |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Altid | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Altid | I 2 tilstande |
| GNAO1G protein subunit alpha o1 | Altid | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Altid | I 2 tilstande |
| GRM1glutamate metabotropic receptor 1 | Altid | I 1 tilstand |
| GSX2GS homeobox 2 | Altid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Altid | I 1 tilstand |
| INTS8integrator complex subunit 8 | Altid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altid | I 2 tilstande |
| LRRC7leucine rich repeat containing 7 | Altid | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Altid | I 1 tilstand |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Altid | I 1 tilstand |
| OTUD7AOTU deubiquitinase 7A | Altid | I 1 tilstand |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Altid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 2 tilstande |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Altid | I 1 tilstand |
| PLP1proteolipid protein 1 | Altid | I 4 tilstande |
| PMPCBpeptidase, mitochondrial processing subunit beta | Altid | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Altid | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Altid | I 2 tilstande |
| POT1protection of telomeres 1 | Altid | I 1 tilstand |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Altid | I 1 tilstand |
| PRUNE1prune exopolyphosphatase 1 | Altid | I 2 tilstande |
| PSMB1proteasome 20S subunit beta 1 | Altid | I 1 tilstand |
| PSMC1proteasome 26S subunit, ATPase 1 | Altid | I 1 tilstand |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Altid | I 1 tilstand |
Vis 244 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| PYCR2pyrroline-5-carboxylate reductase 2 | Altid | I 2 tilstande |
| RAB18RAB18, member RAS oncogene family | Altid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Altid | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Altid | I 2 tilstande |
| SEC31ASEC31 homolog A, COPII component | Altid | I 1 tilstand |
| SLC19A3solute carrier family 19 member 3 | Altid | I 1 tilstand |
| SLC33A1solute carrier family 33 member 1 | Altid | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Altid | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Altid | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Altid | I 1 tilstand |
| TMEM231transmembrane protein 231 | Altid | I 1 tilstand |
| TNRtenascin R | Altid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Altid | I 1 tilstand |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Altid | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Altid | I 1 tilstand |
| TRIP4thyroid hormone receptor interactor 4 | Altid | I 1 tilstand |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Altid | I 1 tilstand |
| VPS41VPS41 subunit of HOPS complex | Altid | I 1 tilstand |
| VPS51VPS51 subunit of GARP complex | Altid | I 1 tilstand |
| WARS1tryptophanyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| ACTL6Bactin like 6B | Meget ofte (80–99 %) | I 2 tilstande |
| ASPAaspartoacylase | Meget ofte (80–99 %) | I 1 tilstand |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Meget ofte (80–99 %) | I 1 tilstand |
| CHKAcholine kinase alpha | Meget ofte (80–99 %) | I 1 tilstand |
| CLN8CLN8 transmembrane ER and ERGIC protein | Meget ofte (80–99 %) | I 1 tilstand |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Meget ofte (80–99 %) | I 1 tilstand |
| DNM1dynamin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| FLNCfilamin C | Meget ofte (80–99 %) | I 1 tilstand |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Meget ofte (80–99 %) | I 2 tilstande |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LAMA2laminin subunit alpha 2 | Meget ofte (80–99 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Meget ofte (80–99 %) | I 1 tilstand |
| MEF2Cmyocyte enhancer factor 2C | Meget ofte (80–99 %) | I 1 tilstand |
| NTNG2netrin G2 | Meget ofte (80–99 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Meget ofte (80–99 %) | I 1 tilstand |
| PLCB1phospholipase C beta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PODXLpodocalyxin like | Meget ofte (80–99 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC12A5solute carrier family 12 member 5 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC25A22solute carrier family 25 member 22 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Meget ofte (80–99 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SYNJ1synaptojanin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Meget ofte (80–99 %) | I 1 tilstand |
| TFGtrafficking from ER to golgi regulator | Meget ofte (80–99 %) | I 2 tilstande |
| UBE4Aubiquitination factor E4A | Meget ofte (80–99 %) | I 1 tilstand |
| UBTFupstream binding transcription factor | Meget ofte (80–99 %) | I 2 tilstande |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Ofte (30–79 %) | I 1 tilstand |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Ofte (30–79 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| ATMATM serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| ATP13A2ATPase cation transporting 13A2 | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Icalcium voltage-gated channel subunit alpha1 I | Ofte (30–79 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Ofte (30–79 %) | I 2 tilstande |
| CDONcell adhesion associated, oncogene regulated | Ofte (30–79 %) | I 4 tilstande |
| CELF2CUGBP Elav-like family member 2 | Ofte (30–79 %) | I 1 tilstand |
| CLDN11claudin 11 | Ofte (30–79 %) | I 1 tilstand |
| COPB1coat protein complex I subunit beta 1 | Ofte (30–79 %) | I 1 tilstand |
| COPB2coat protein complex I subunit beta 2 | Ofte (30–79 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Ofte (30–79 %) | I 1 tilstand |
| CRIPTOcripto, EGF-CFC family member | Ofte (30–79 %) | I 4 tilstande |
| CTBP1C-terminal binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| DCPSdecapping enzyme, scavenger | Ofte (30–79 %) | I 1 tilstand |
| DISP1dispatched RND transporter family member 1 | Ofte (30–79 %) | I 4 tilstande |
| DLL1delta like canonical Notch ligand 1 | Ofte (30–79 %) | I 4 tilstande |
| DNM1Ldynamin 1L | Ofte (30–79 %) | I 1 tilstand |
| DOHHdeoxyhypusine hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| EPM2AEPM2A glucan phosphatase, laforin | Ofte (30–79 %) | I 1 tilstand |
| ERLIN1ER lipid raft associated 1 | Ofte (30–79 %) | I 1 tilstand |
| EXOSC5exosome component 5 | Ofte (30–79 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Ofte (30–79 %) | I 4 tilstande |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 2 tilstande |
| FOXH1forkhead box H1 | Ofte (30–79 %) | I 4 tilstande |
| FUSFUS RNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Ofte (30–79 %) | I 4 tilstande |
| GCDHglutaryl-CoA dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| GDAP1ganglioside induced differentiation associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| GEMIN4gem nuclear organelle associated protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Ofte (30–79 %) | I 4 tilstande |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Ofte (30–79 %) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ofte (30–79 %) | I 1 tilstand |
| GOT2glutamic-oxaloacetic transaminase 2 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ofte (30–79 %) | I 2 tilstande |
| INTS1integrator complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Ofte (30–79 %) | I 1 tilstand |
| LNPKlunapark, ER junction formation factor | Ofte (30–79 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Ofte (30–79 %) | I 1 tilstand |
| MAST1microtubule associated serine/threonine kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ofte (30–79 %) | I 3 tilstande |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Ofte (30–79 %) | I 1 tilstand |
| MYOTmyotilin | Ofte (30–79 %) | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Ofte (30–79 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Ofte (30–79 %) | I 1 tilstand |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Ofte (30–79 %) | I 4 tilstande |
| NTNG1netrin G1 | Ofte (30–79 %) | I 1 tilstand |
| OTUD6BOTU deubiquitinase 6B | Ofte (30–79 %) | I 2 tilstande |
| PANK2pantothenate kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Ofte (30–79 %) | I 1 tilstand |
| PLCH1phospholipase C eta 1 | Ofte (30–79 %) | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Ofte (30–79 %) | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Ofte (30–79 %) | I 1 tilstand |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Ofte (30–79 %) | I 1 tilstand |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Ofte (30–79 %) | I 1 tilstand |
| PTCH1patched 1 | Ofte (30–79 %) | I 4 tilstande |
| RHOBTB2Rho related BTB domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Ofte (30–79 %) | I 4 tilstande |
| SIGMAR1sigma receptor chaperone 1 | Ofte (30–79 %) | I 1 tilstand |
| SIX3SIX homeobox 3 | Ofte (30–79 %) | I 4 tilstande |
| SLC12A6solute carrier family 12 member 6 | Ofte (30–79 %) | I 1 tilstand |
| SLC35A2solute carrier family 35 member A2 | Ofte (30–79 %) | I 1 tilstand |
| SLC39A8solute carrier family 39 member 8 | Ofte (30–79 %) | I 2 tilstande |
| SLC6A17solute carrier family 6 member 17 | Ofte (30–79 %) | I 2 tilstande |
| SMC1Astructural maintenance of chromosomes 1A | Ofte (30–79 %) | I 2 tilstande |
| SORDsorbitol dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Ofte (30–79 %) | I 2 tilstande |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Ofte (30–79 %) | I 2 tilstande |
| STAG2STAG2 cohesin complex component | Ofte (30–79 %) | I 2 tilstande |
| STILSTIL centriolar assembly protein | Ofte (30–79 %) | I 4 tilstande |
| STXBP1syntaxin binding protein 1 | Ofte (30–79 %) | I 2 tilstande |
| TARDBPTAR DNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Ofte (30–79 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Ofte (30–79 %) | I 1 tilstand |
| TELO2telomere maintenance 2 | Ofte (30–79 %) | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Ofte (30–79 %) | I 4 tilstande |
| TRMT2BtRNA methyltransferase 2B | Ofte (30–79 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Ofte (30–79 %) | I 1 tilstand |
| UBQLN2ubiquilin 2 | Ofte (30–79 %) | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| VAMP2vesicle associated membrane protein 2 | Ofte (30–79 %) | I 1 tilstand |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Ofte (30–79 %) | I 2 tilstande |
| ZIC2Zic family zinc finger 2 | Ofte (30–79 %) | I 4 tilstande |
| ZNF526zinc finger protein 526 | Ofte (30–79 %) | I 1 tilstand |
| ADSS1adenylosuccinate synthase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Nogle gange (5–29 %) | I 2 tilstande |
| ATL1atlastin GTPase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ATL3atlastin GTPase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP8A2ATPase phospholipid transporting 8A2 | Nogle gange (5–29 %) | I 1 tilstand |
| BCAS3BCAS3 microtubule associated cell migration factor | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Nogle gange (5–29 %) | I 1 tilstand |
| CLIC2CLIC family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Nogle gange (5–29 %) | I 1 tilstand |
| DMDdystrophin | Nogle gange (5–29 %) | I 1 tilstand |
| DOCK7dedicator of cytokinesis 7 | Nogle gange (5–29 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| DYMdymeclin | Nogle gange (5–29 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FAR1fatty acyl-CoA reductase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FXNfrataxin | Nogle gange (5–29 %) | I 1 tilstand |
| GEMIN5gem nuclear organelle associated protein 5 | 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 2 tilstande |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HTThuntingtin | Nogle gange (5–29 %) | I 1 tilstand |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF1Akinesin family member 1A | Nogle gange (5–29 %) | I 1 tilstand |
| KLC2kinesin light chain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LMNAlamin A/C | Nogle gange (5–29 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| LYSTlysosomal trafficking regulator | Nogle gange (5–29 %) | I 1 tilstand |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Nogle gange (5–29 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MTM1myotubularin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MTRFRmitochondrial translation release factor in rescue | Nogle gange (5–29 %) | I 1 tilstand |
| NDRG1N-myc downstream regulated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NEFLneurofilament light chain | Nogle gange (5–29 %) | I 2 tilstande |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PMP22peripheral myelin protein 22 | Nogle gange (5–29 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Nogle gange (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Nogle gange (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SBF2SET binding factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC2A3solute carrier family 2 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SMSspermine synthase | Nogle gange (5–29 %) | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Nogle gange (5–29 %) | I 1 tilstand |
| TNPO2transportin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TSEN15tRNA splicing endonuclease subunit 15 | Nogle gange (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Nogle gange (5–29 %) | I 2 tilstande |
| ABCD1ATP binding cassette subfamily D member 1 | Sjældent (1–4%) | I 1 tilstand |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Sjældent (1–4%) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Sjældent (1–4%) | I 1 tilstand |
| DYSFdysferlin | Sjældent (1–4%) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Sjældent (1–4%) | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Sjældent (1–4%) | I 1 tilstand |
| ADSLadenylosuccinate lyase | Ikke registreret | I 1 tilstand |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Ikke registreret | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Ikke registreret | I 1 tilstand |
| ATN1atrophin 1 | Ikke registreret | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Ikke registreret | I 1 tilstand |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Ikke registreret | I 1 tilstand |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Ikke registreret | I 1 tilstand |
| DHX30DExH-box helicase 30 | Ikke registreret | I 1 tilstand |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Ikke registreret | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ikke registreret | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Ikke registreret | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Ikke registreret | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ikke registreret | I 1 tilstand |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Ikke registreret | I 1 tilstand |
| MAGEL2MAGE family member L2 | Ikke registreret | I 1 tilstand |
| MDH2malate dehydrogenase 2 | Ikke registreret | I 1 tilstand |
| MFFmitochondrial fission factor | Ikke registreret | I 1 tilstand |
| MPZmyelin protein zero | Ikke registreret | I 1 tilstand |
| MRPS34mitochondrial ribosomal protein S34 | Ikke registreret | I 1 tilstand |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ikke registreret | I 1 tilstand |
| NEBnebulin | Ikke registreret | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ikke registreret | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Ikke registreret | I 1 tilstand |
| SELENOIselenoprotein I | Ikke registreret | I 1 tilstand |
| SERAC1serine active site containing 1 | Ikke registreret | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Ikke registreret | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registreret | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Ikke registreret | I 1 tilstand |
| SLC1A4solute carrier family 1 member 4 | Ikke registreret | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Ikke registreret | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Ikke registreret | I 1 tilstand |
| SNX14sorting nexin 14 | Ikke registreret | I 1 tilstand |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Ikke registreret | I 1 tilstand |
| STRADASTE20 related adaptor alpha | Ikke registreret | I 1 tilstand |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Ikke registreret | I 1 tilstand |
| SYT1synaptotagmin 1 | Ikke registreret | I 1 tilstand |
| TBC1D23TBC1 domain family member 23 | Ikke registreret | I 1 tilstand |
| TBR1T-box brain transcription factor 1 | Ikke registreret | I 1 tilstand |
| TK2thymidine kinase 2 | Ikke registreret | I 1 tilstand |
| TMEM107transmembrane protein 107 | Ikke registreret | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Ikke registreret | I 1 tilstand |
| TRIM2tripartite motif containing 2 | Ikke registreret | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registreret | I 1 tilstand |
| VARS1valyl-tRNA synthetase 1 | Ikke registreret | I 1 tilstand |
| WDR45BWD repeat domain 45B | Ikke registreret | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | 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 2026.10.16-c6eea6bf.
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