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Egenskap
Inability to walk
Incapability to ambulate.
Sammendrag
- Også kalt
- Non-ambulatory
- Kroppssystem
- Abnormality of the nervous system
Inability to walkHP:0002540
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Logg innSpørKom i gangfra 449 $
Read the genes linked to Inability to walk, and the rest of your genome, with one test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test284 gener knyttet til Inability to walk
Endringer i disse genene forårsaker sjeldne tilstander der Inability to walk 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 |
|---|---|---|
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Alltid | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Alltid | I 2 tilstander |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Alltid | I 1 tilstand |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Alltid | I 1 tilstand |
| ARL6IP1ARL6 interacting reticulophagy regulator 1 | Alltid | I 1 tilstand |
| ATXN7L3ataxin 7 like 3 | Alltid | I 1 tilstand |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Alltid | I 1 tilstand |
| COL4A2collagen type IV alpha 2 chain | Alltid | I 1 tilstand |
| CPLX1complexin 1 | Alltid | I 1 tilstand |
| CTNNA2catenin alpha 2 | Alltid | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Alltid | I 1 tilstand |
| ERLIN2ER lipid raft associated 2 | Alltid | I 2 tilstander |
| ESAMendothelial cell adhesion molecule | Alltid | I 1 tilstand |
| FCSKfucose kinase | Alltid | I 1 tilstand |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Alltid | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Alltid | I 2 tilstander |
| GNAO1G protein subunit alpha o1 | Alltid | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Alltid | I 2 tilstander |
| GRM1glutamate metabotropic receptor 1 | Alltid | I 1 tilstand |
| GSX2GS homeobox 2 | Alltid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Alltid | I 1 tilstand |
| INTS8integrator complex subunit 8 | Alltid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alltid | I 2 tilstander |
| LRRC7leucine rich repeat containing 7 | Alltid | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Alltid | I 1 tilstand |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Alltid | I 1 tilstand |
| OTUD7AOTU deubiquitinase 7A | Alltid | I 1 tilstand |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Alltid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alltid | I 2 tilstander |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Alltid | I 1 tilstand |
| PLP1proteolipid protein 1 | Alltid | I 4 tilstander |
| PMPCBpeptidase, mitochondrial processing subunit beta | Alltid | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Alltid | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Alltid | I 2 tilstander |
| POT1protection of telomeres 1 | Alltid | I 1 tilstand |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Alltid | I 1 tilstand |
| PRUNE1prune exopolyphosphatase 1 | Alltid | I 2 tilstander |
| PSMB1proteasome 20S subunit beta 1 | Alltid | I 1 tilstand |
| PSMC1proteasome 26S subunit, ATPase 1 | Alltid | I 1 tilstand |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Alltid | I 1 tilstand |
Vis 244 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| PYCR2pyrroline-5-carboxylate reductase 2 | Alltid | I 2 tilstander |
| RAB18RAB18, member RAS oncogene family | Alltid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Alltid | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Alltid | I 2 tilstander |
| SEC31ASEC31 homolog A, COPII component | Alltid | I 1 tilstand |
| SLC19A3solute carrier family 19 member 3 | Alltid | I 1 tilstand |
| SLC33A1solute carrier family 33 member 1 | Alltid | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Alltid | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Alltid | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Alltid | I 1 tilstand |
| TMEM231transmembrane protein 231 | Alltid | I 1 tilstand |
| TNRtenascin R | Alltid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Alltid | I 1 tilstand |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Alltid | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Alltid | I 1 tilstand |
| TRIP4thyroid hormone receptor interactor 4 | Alltid | I 1 tilstand |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Alltid | I 1 tilstand |
| VPS41VPS41 subunit of HOPS complex | Alltid | I 1 tilstand |
| VPS51VPS51 subunit of GARP complex | Alltid | I 1 tilstand |
| WARS1tryptophanyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| ACTL6Bactin like 6B | Svært ofte (80–99 %) | I 2 tilstander |
| ASPAaspartoacylase | Svært ofte (80–99 %) | I 1 tilstand |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Svært ofte (80–99 %) | I 1 tilstand |
| CHKAcholine kinase alpha | Svært ofte (80–99 %) | I 1 tilstand |
| CLN8CLN8 transmembrane ER and ERGIC protein | Svært ofte (80–99 %) | I 1 tilstand |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Svært ofte (80–99 %) | I 1 tilstand |
| DNM1dynamin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FLNCfilamin C | Svært ofte (80–99 %) | I 1 tilstand |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Svært ofte (80–99 %) | I 2 tilstander |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| LAMA2laminin subunit alpha 2 | Svært ofte (80–99 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Svært ofte (80–99 %) | I 1 tilstand |
| MEF2Cmyocyte enhancer factor 2C | Svært ofte (80–99 %) | I 1 tilstand |
| NTNG2netrin G2 | Svært ofte (80–99 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Svært ofte (80–99 %) | I 1 tilstand |
| PLCB1phospholipase C beta 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PODXLpodocalyxin like | Svært ofte (80–99 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC12A5solute carrier family 12 member 5 | Svært ofte (80–99 %) | I 2 tilstander |
| SLC25A22solute carrier family 25 member 22 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Svært ofte (80–99 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SYNJ1synaptojanin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Svært ofte (80–99 %) | I 1 tilstand |
| TFGtrafficking from ER to golgi regulator | Svært ofte (80–99 %) | I 2 tilstander |
| UBE4Aubiquitination factor E4A | Svært ofte (80–99 %) | I 1 tilstand |
| UBTFupstream binding transcription factor | Svært ofte (80–99 %) | I 2 tilstander |
| 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 tilstander |
| CDONcell adhesion associated, oncogene regulated | Ofte (30–79 %) | I 4 tilstander |
| 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 tilstander |
| 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 tilstander |
| DLL1delta like canonical Notch ligand 1 | Ofte (30–79 %) | I 4 tilstander |
| 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 tilstander |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 2 tilstander |
| FOXH1forkhead box H1 | Ofte (30–79 %) | I 4 tilstander |
| FUSFUS RNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Ofte (30–79 %) | I 4 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| NTNG1netrin G1 | Ofte (30–79 %) | I 1 tilstand |
| OTUD6BOTU deubiquitinase 6B | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| SIGMAR1sigma receptor chaperone 1 | Ofte (30–79 %) | I 1 tilstand |
| SIX3SIX homeobox 3 | Ofte (30–79 %) | I 4 tilstander |
| 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 tilstander |
| SLC6A17solute carrier family 6 member 17 | Ofte (30–79 %) | I 2 tilstander |
| SMC1Astructural maintenance of chromosomes 1A | Ofte (30–79 %) | I 2 tilstander |
| SORDsorbitol dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Ofte (30–79 %) | I 2 tilstander |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Ofte (30–79 %) | I 2 tilstander |
| STAG2STAG2 cohesin complex component | Ofte (30–79 %) | I 2 tilstander |
| STILSTIL centriolar assembly protein | Ofte (30–79 %) | I 4 tilstander |
| STXBP1syntaxin binding protein 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| ZIC2Zic family zinc finger 2 | Ofte (30–79 %) | I 4 tilstander |
| ZNF526zinc finger protein 526 | Ofte (30–79 %) | I 1 tilstand |
| ADSS1adenylosuccinate synthase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Noen ganger (5–29 %) | I 2 tilstander |
| ATL1atlastin GTPase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ATL3atlastin GTPase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP8A2ATPase phospholipid transporting 8A2 | Noen ganger (5–29 %) | I 1 tilstand |
| BCAS3BCAS3 microtubule associated cell migration factor | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Noen ganger (5–29 %) | I 1 tilstand |
| CLIC2CLIC family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Noen ganger (5–29 %) | I 1 tilstand |
| DMDdystrophin | Noen ganger (5–29 %) | I 1 tilstand |
| DOCK7dedicator of cytokinesis 7 | Noen ganger (5–29 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| DYMdymeclin | Noen ganger (5–29 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FAR1fatty acyl-CoA reductase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FXNfrataxin | Noen ganger (5–29 %) | I 1 tilstand |
| GEMIN5gem nuclear organelle associated protein 5 | 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 2 tilstander |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HTThuntingtin | Noen ganger (5–29 %) | I 1 tilstand |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF1Akinesin family member 1A | Noen ganger (5–29 %) | I 1 tilstand |
| KLC2kinesin light chain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LMNAlamin A/C | Noen ganger (5–29 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| LYSTlysosomal trafficking regulator | Noen ganger (5–29 %) | I 1 tilstand |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Noen ganger (5–29 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MTM1myotubularin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MTRFRmitochondrial translation release factor in rescue | Noen ganger (5–29 %) | I 1 tilstand |
| NDRG1N-myc downstream regulated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NEFLneurofilament light chain | Noen ganger (5–29 %) | I 2 tilstander |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PMP22peripheral myelin protein 22 | Noen ganger (5–29 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Noen ganger (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SBF2SET binding factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC2A3solute carrier family 2 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SMSspermine synthase | Noen ganger (5–29 %) | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Noen ganger (5–29 %) | I 1 tilstand |
| TNPO2transportin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TSEN15tRNA splicing endonuclease subunit 15 | Noen ganger (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Noen ganger (5–29 %) | I 2 tilstander |
| ABCD1ATP binding cassette subfamily D member 1 | Sjelden (1–4%) | I 1 tilstand |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Sjelden (1–4%) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Sjelden (1–4%) | I 1 tilstand |
| DYSFdysferlin | Sjelden (1–4%) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Sjelden (1–4%) | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Sjelden (1–4%) | I 1 tilstand |
| ADSLadenylosuccinate lyase | Ikke registrert | I 1 tilstand |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Ikke registrert | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Ikke registrert | I 1 tilstand |
| ATN1atrophin 1 | Ikke registrert | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Ikke registrert | I 1 tilstand |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Ikke registrert | I 1 tilstand |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Ikke registrert | I 1 tilstand |
| DHX30DExH-box helicase 30 | Ikke registrert | I 1 tilstand |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Ikke registrert | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ikke registrert | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Ikke registrert | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Ikke registrert | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ikke registrert | I 1 tilstand |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Ikke registrert | I 1 tilstand |
| MAGEL2MAGE family member L2 | Ikke registrert | I 1 tilstand |
| MDH2malate dehydrogenase 2 | Ikke registrert | I 1 tilstand |
| MFFmitochondrial fission factor | Ikke registrert | I 1 tilstand |
| MPZmyelin protein zero | Ikke registrert | I 1 tilstand |
| MRPS34mitochondrial ribosomal protein S34 | Ikke registrert | I 1 tilstand |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ikke registrert | I 1 tilstand |
| NEBnebulin | Ikke registrert | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ikke registrert | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Ikke registrert | I 1 tilstand |
| SELENOIselenoprotein I | Ikke registrert | I 1 tilstand |
| SERAC1serine active site containing 1 | Ikke registrert | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Ikke registrert | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registrert | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Ikke registrert | I 1 tilstand |
| SLC1A4solute carrier family 1 member 4 | Ikke registrert | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Ikke registrert | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Ikke registrert | I 1 tilstand |
| SNX14sorting nexin 14 | Ikke registrert | I 1 tilstand |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Ikke registrert | I 1 tilstand |
| STRADASTE20 related adaptor alpha | Ikke registrert | I 1 tilstand |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Ikke registrert | I 1 tilstand |
| SYT1synaptotagmin 1 | Ikke registrert | I 1 tilstand |
| TBC1D23TBC1 domain family member 23 | Ikke registrert | I 1 tilstand |
| TBR1T-box brain transcription factor 1 | Ikke registrert | I 1 tilstand |
| TK2thymidine kinase 2 | Ikke registrert | I 1 tilstand |
| TMEM107transmembrane protein 107 | Ikke registrert | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Ikke registrert | I 1 tilstand |
| TRIM2tripartite motif containing 2 | Ikke registrert | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registrert | I 1 tilstand |
| VARS1valyl-tRNA synthetase 1 | Ikke registrert | I 1 tilstand |
| WDR45BWD repeat domain 45B | Ikke registrert | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | 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.
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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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