Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Tunnus
Inability to walk
Incapability to ambulate.
Kokkuvõte
- Teised nimetused
- Non-ambulatory
- Kehasüsteem
- Abnormality of the nervous system
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/inability-to-walk.json"
page <- fromJSON(url)
page$trait$nameInability to walkHP:0002540
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Lugege välja geenid, mis on seotud Inability to walk-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test284 geeni on seotud tunnusega Inability to walk
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Inability to walk. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Alati | Esineb 1 haiguses |
| AFG2AAAA ATPase AFG2A | Alati | Esineb 2 haiguses |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Alati | Esineb 1 haiguses |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Alati | Esineb 1 haiguses |
| ARL6IP1ARL6 interacting reticulophagy regulator 1 | Alati | Esineb 1 haiguses |
| ATXN7L3ataxin 7 like 3 | Alati | Esineb 1 haiguses |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Alati | Esineb 1 haiguses |
| COL4A2collagen type IV alpha 2 chain | Alati | Esineb 1 haiguses |
| CPLX1complexin 1 | Alati | Esineb 1 haiguses |
| CTNNA2catenin alpha 2 | Alati | Esineb 1 haiguses |
| DONSONDNA replication fork stabilization factor DONSON | Alati | Esineb 1 haiguses |
| ERLIN2ER lipid raft associated 2 | Alati | Esineb 2 haiguses |
| ESAMendothelial cell adhesion molecule | Alati | Esineb 1 haiguses |
| FCSKfucose kinase | Alati | Esineb 1 haiguses |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Alati | Esineb 1 haiguses |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Alati | Esineb 2 haiguses |
| GNAO1G protein subunit alpha o1 | Alati | Esineb 1 haiguses |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Alati | Esineb 2 haiguses |
| GRM1glutamate metabotropic receptor 1 | Alati | Esineb 1 haiguses |
| GSX2GS homeobox 2 | Alati | Esineb 1 haiguses |
| GTPBP2GTP binding protein 2 | Alati | Esineb 1 haiguses |
| INTS8integrator complex subunit 8 | Alati | Esineb 1 haiguses |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alati | Esineb 2 haiguses |
| LRRC7leucine rich repeat containing 7 | Alati | Esineb 1 haiguses |
| MAFBMAF bZIP transcription factor B | Alati | Esineb 1 haiguses |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Alati | Esineb 1 haiguses |
| OTUD7AOTU deubiquitinase 7A | Alati | Esineb 1 haiguses |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Alati | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alati | Esineb 2 haiguses |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Alati | Esineb 1 haiguses |
| PLP1proteolipid protein 1 | Alati | Esineb 4 haiguses |
| PMPCBpeptidase, mitochondrial processing subunit beta | Alati | Esineb 1 haiguses |
| POMT1protein O-mannosyltransferase 1 | Alati | Esineb 1 haiguses |
| POMT2protein O-mannosyltransferase 2 | Alati | Esineb 2 haiguses |
| POT1protection of telomeres 1 | Alati | Esineb 1 haiguses |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Alati | Esineb 1 haiguses |
| PRUNE1prune exopolyphosphatase 1 | Alati | Esineb 2 haiguses |
| PSMB1proteasome 20S subunit beta 1 | Alati | Esineb 1 haiguses |
| PSMC1proteasome 26S subunit, ATPase 1 | Alati | Esineb 1 haiguses |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Alati | Esineb 1 haiguses |
Näita veel 244 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| PYCR2pyrroline-5-carboxylate reductase 2 | Alati | Esineb 2 haiguses |
| RAB18RAB18, member RAS oncogene family | Alati | Esineb 1 haiguses |
| RBSNrabenosyn, RAB effector | Alati | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Alati | Esineb 2 haiguses |
| SEC31ASEC31 homolog A, COPII component | Alati | Esineb 1 haiguses |
| SLC19A3solute carrier family 19 member 3 | Alati | Esineb 1 haiguses |
| SLC33A1solute carrier family 33 member 1 | Alati | Esineb 1 haiguses |
| SLC39A14solute carrier family 39 member 14 | Alati | Esineb 1 haiguses |
| SMPD1sphingomyelin phosphodiesterase 1 | Alati | Esineb 1 haiguses |
| TBC1D20TBC1 domain family member 20 | Alati | Esineb 1 haiguses |
| TMEM231transmembrane protein 231 | Alati | Esineb 1 haiguses |
| TNRtenascin R | Alati | Esineb 1 haiguses |
| TOR1Atorsin family 1 member A | Alati | Esineb 1 haiguses |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Alati | Esineb 1 haiguses |
| TREX1three prime repair exonuclease 1 | Alati | Esineb 1 haiguses |
| TRIP4thyroid hormone receptor interactor 4 | Alati | Esineb 1 haiguses |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Alati | Esineb 1 haiguses |
| VPS41VPS41 subunit of HOPS complex | Alati | Esineb 1 haiguses |
| VPS51VPS51 subunit of GARP complex | Alati | Esineb 1 haiguses |
| WARS1tryptophanyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| ACTL6Bactin like 6B | Väga sageli (80–99%) | Esineb 2 haiguses |
| ASPAaspartoacylase | Väga sageli (80–99%) | Esineb 1 haiguses |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Väga sageli (80–99%) | Esineb 1 haiguses |
| CHKAcholine kinase alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLN8CLN8 transmembrane ER and ERGIC protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DNM1dynamin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FLNCfilamin C | Väga sageli (80–99%) | Esineb 1 haiguses |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LAMA2laminin subunit alpha 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MED25mediator complex subunit 25 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MEF2Cmyocyte enhancer factor 2C | Väga sageli (80–99%) | Esineb 1 haiguses |
| NTNG2netrin G2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PLCB1phospholipase C beta 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PODXLpodocalyxin like | Väga sageli (80–99%) | Esineb 1 haiguses |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC12A5solute carrier family 12 member 5 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SLC25A22solute carrier family 25 member 22 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC38A3solute carrier family 38 member 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SYNJ1synaptojanin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBC1D24TBC1 domain family member 24 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TFGtrafficking from ER to golgi regulator | Väga sageli (80–99%) | Esineb 2 haiguses |
| UBE4Aubiquitination factor E4A | Väga sageli (80–99%) | Esineb 1 haiguses |
| UBTFupstream binding transcription factor | Väga sageli (80–99%) | Esineb 2 haiguses |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Sageli (30–79%) | Esineb 1 haiguses |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ASXL1ASXL transcriptional regulator 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATMATM serine/threonine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| ATP13A2ATPase cation transporting 13A2 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP6V1AATPase H+ transporting V1 subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| CACNA1Icalcium voltage-gated channel subunit alpha1 I | Sageli (30–79%) | Esineb 1 haiguses |
| CDKL5cyclin dependent kinase like 5 | Sageli (30–79%) | Esineb 2 haiguses |
| CDONcell adhesion associated, oncogene regulated | Sageli (30–79%) | Esineb 4 haiguses |
| CELF2CUGBP Elav-like family member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CLDN11claudin 11 | Sageli (30–79%) | Esineb 1 haiguses |
| COPB1coat protein complex I subunit beta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| COPB2coat protein complex I subunit beta 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CRELD1CRELD disulfide isomerase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CRIPTOcripto, EGF-CFC family member | Sageli (30–79%) | Esineb 4 haiguses |
| CTBP1C-terminal binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DCPSdecapping enzyme, scavenger | Sageli (30–79%) | Esineb 1 haiguses |
| DISP1dispatched RND transporter family member 1 | Sageli (30–79%) | Esineb 4 haiguses |
| DLL1delta like canonical Notch ligand 1 | Sageli (30–79%) | Esineb 4 haiguses |
| DNM1Ldynamin 1L | Sageli (30–79%) | Esineb 1 haiguses |
| DOHHdeoxyhypusine hydroxylase | Sageli (30–79%) | Esineb 1 haiguses |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EPM2AEPM2A glucan phosphatase, laforin | Sageli (30–79%) | Esineb 1 haiguses |
| ERLIN1ER lipid raft associated 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EXOSC5exosome component 5 | Sageli (30–79%) | Esineb 1 haiguses |
| FGF8fibroblast growth factor 8 | Sageli (30–79%) | Esineb 4 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| FOXH1forkhead box H1 | Sageli (30–79%) | Esineb 4 haiguses |
| FUSFUS RNA binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| GAS1growth arrest specific 1 | Sageli (30–79%) | Esineb 4 haiguses |
| GCDHglutaryl-CoA dehydrogenase | Sageli (30–79%) | Esineb 1 haiguses |
| GDAP1ganglioside induced differentiation associated protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GEMIN4gem nuclear organelle associated protein 4 | Sageli (30–79%) | Esineb 1 haiguses |
| GLI2GLI family zinc finger 2 | Sageli (30–79%) | Esineb 4 haiguses |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Sageli (30–79%) | Esineb 1 haiguses |
| GOT2glutamic-oxaloacetic transaminase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Sageli (30–79%) | Esineb 1 haiguses |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Sageli (30–79%) | Esineb 2 haiguses |
| INTS1integrator complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| LMX1BLIM homeobox transcription factor 1 beta | Sageli (30–79%) | Esineb 1 haiguses |
| LNPKlunapark, ER junction formation factor | Sageli (30–79%) | Esineb 1 haiguses |
| LRPPRCleucine rich pentatricopeptide repeat containing | Sageli (30–79%) | Esineb 1 haiguses |
| MAST1microtubule associated serine/threonine kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MECP2methyl-CpG binding protein 2 | Sageli (30–79%) | Esineb 3 haiguses |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Sageli (30–79%) | Esineb 1 haiguses |
| MYOTmyotilin | Sageli (30–79%) | Esineb 1 haiguses |
| NEUROD2neuronal differentiation 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NGLY1N-glycanase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NODALnodal growth differentiation factor | Sageli (30–79%) | Esineb 4 haiguses |
| NTNG1netrin G1 | Sageli (30–79%) | Esineb 1 haiguses |
| OTUD6BOTU deubiquitinase 6B | Sageli (30–79%) | Esineb 2 haiguses |
| PANK2pantothenate kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PGAP2post-GPI attachment to proteins 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PLCH1phospholipase C eta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PPFIA3PPFI scaffold protein A3 | Sageli (30–79%) | Esineb 1 haiguses |
| PPIBpeptidylprolyl isomerase B | Sageli (30–79%) | Esineb 1 haiguses |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Sageli (30–79%) | Esineb 1 haiguses |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Sageli (30–79%) | Esineb 1 haiguses |
| PTCH1patched 1 | Sageli (30–79%) | Esineb 4 haiguses |
| RHOBTB2Rho related BTB domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SHHsonic hedgehog signaling molecule | Sageli (30–79%) | Esineb 4 haiguses |
| SIGMAR1sigma receptor chaperone 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SIX3SIX homeobox 3 | Sageli (30–79%) | Esineb 4 haiguses |
| SLC12A6solute carrier family 12 member 6 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC35A2solute carrier family 35 member A2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC39A8solute carrier family 39 member 8 | Sageli (30–79%) | Esineb 2 haiguses |
| SLC6A17solute carrier family 6 member 17 | Sageli (30–79%) | Esineb 2 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Sageli (30–79%) | Esineb 2 haiguses |
| SORDsorbitol dehydrogenase | Sageli (30–79%) | Esineb 1 haiguses |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Sageli (30–79%) | Esineb 2 haiguses |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Sageli (30–79%) | Esineb 2 haiguses |
| STAG2STAG2 cohesin complex component | Sageli (30–79%) | Esineb 2 haiguses |
| STILSTIL centriolar assembly protein | Sageli (30–79%) | Esineb 4 haiguses |
| STXBP1syntaxin binding protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TARDBPTAR DNA binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| TBCDtubulin folding cofactor D | Sageli (30–79%) | Esineb 1 haiguses |
| TBCKTBC1 domain containing kinase | Sageli (30–79%) | Esineb 1 haiguses |
| TELO2telomere maintenance 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TGIF1TGFB induced factor homeobox 1 | Sageli (30–79%) | Esineb 4 haiguses |
| TRMT2BtRNA methyltransferase 2B | Sageli (30–79%) | Esineb 1 haiguses |
| TUBB3tubulin beta 3 class III | Sageli (30–79%) | Esineb 1 haiguses |
| UBQLN2ubiquilin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| VAMP2vesicle associated membrane protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Sageli (30–79%) | Esineb 2 haiguses |
| ZIC2Zic family zinc finger 2 | Sageli (30–79%) | Esineb 4 haiguses |
| ZNF526zinc finger protein 526 | Sageli (30–79%) | Esineb 1 haiguses |
| ADSS1adenylosuccinate synthase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASAH1N-acylsphingosine amidohydrolase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASXL3ASXL transcriptional regulator 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ATL1atlastin GTPase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATL3atlastin GTPase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP8A2ATPase phospholipid transporting 8A2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BCAS3BCAS3 microtubule associated cell migration factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLIC2CLIC family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLTCclathrin heavy chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| DMDdystrophin | Mõnikord (5–29%) | Esineb 1 haiguses |
| DOCK7dedicator of cytokinesis 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPYDdihydropyrimidine dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DYMdymeclin | Mõnikord (5–29%) | Esineb 1 haiguses |
| EXTL3exostosin like glycosyltransferase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAR1fatty acyl-CoA reductase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FXNfrataxin | Mõnikord (5–29%) | Esineb 1 haiguses |
| GEMIN5gem nuclear organelle associated protein 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GMPPBGDP-mannose pyrophosphorylase B | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB1G protein subunit beta 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HTThuntingtin | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF1Akinesin family member 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| KLC2kinesin light chain 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMNAlamin A/C | Mõnikord (5–29%) | Esineb 1 haiguses |
| LONP1lon peptidase 1, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| LYSTlysosomal trafficking regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MORC2MORC family CW-type zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTM1myotubularin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTRFRmitochondrial translation release factor in rescue | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDRG1N-myc downstream regulated 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEFLneurofilament light chain | Mõnikord (5–29%) | Esineb 2 haiguses |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PMP22peripheral myelin protein 22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PURApurine rich element binding protein A | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL10ribosomal protein L10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SATB1SATB homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SBF2SET binding factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC2A3solute carrier family 2 member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMSspermine synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Mõnikord (5–29%) | Esineb 1 haiguses |
| TNPO2transportin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TSEN15tRNA splicing endonuclease subunit 15 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZEB2zinc finger E-box binding homeobox 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ABCD1ATP binding cassette subfamily D member 1 | Harva (1–4%) | Esineb 1 haiguses |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Harva (1–4%) | Esineb 1 haiguses |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Harva (1–4%) | Esineb 1 haiguses |
| DYSFdysferlin | Harva (1–4%) | Esineb 1 haiguses |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Harva (1–4%) | Esineb 1 haiguses |
| STAC3SH3 and cysteine rich domain 3 | Harva (1–4%) | Esineb 1 haiguses |
| ADSLadenylosuccinate lyase | Pole registreeritud | Esineb 1 haiguses |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Pole registreeritud | Esineb 1 haiguses |
| ATAD3AATPase family AAA domain containing 3A | Pole registreeritud | Esineb 1 haiguses |
| ATN1atrophin 1 | Pole registreeritud | Esineb 1 haiguses |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Pole registreeritud | Esineb 1 haiguses |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Pole registreeritud | Esineb 1 haiguses |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Pole registreeritud | Esineb 1 haiguses |
| DHX30DExH-box helicase 30 | Pole registreeritud | Esineb 1 haiguses |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Pole registreeritud | Esineb 1 haiguses |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Pole registreeritud | Esineb 1 haiguses |
| FGF12fibroblast growth factor 12 | Pole registreeritud | Esineb 1 haiguses |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Pole registreeritud | Esineb 1 haiguses |
| GLE1GLE1 RNA export mediator | Pole registreeritud | Esineb 1 haiguses |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Pole registreeritud | Esineb 1 haiguses |
| MAGEL2MAGE family member L2 | Pole registreeritud | Esineb 1 haiguses |
| MDH2malate dehydrogenase 2 | Pole registreeritud | Esineb 1 haiguses |
| MFFmitochondrial fission factor | Pole registreeritud | Esineb 1 haiguses |
| MPZmyelin protein zero | Pole registreeritud | Esineb 1 haiguses |
| MRPS34mitochondrial ribosomal protein S34 | Pole registreeritud | Esineb 1 haiguses |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Pole registreeritud | Esineb 1 haiguses |
| NEBnebulin | Pole registreeritud | Esineb 1 haiguses |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Pole registreeritud | Esineb 1 haiguses |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Pole registreeritud | Esineb 1 haiguses |
| SELENOIselenoprotein I | Pole registreeritud | Esineb 1 haiguses |
| SERAC1serine active site containing 1 | Pole registreeritud | Esineb 1 haiguses |
| SLC16A2solute carrier family 16 member 2 | Pole registreeritud | Esineb 1 haiguses |
| SLC17A5solute carrier family 17 member 5 | Pole registreeritud | Esineb 1 haiguses |
| SLC1A2solute carrier family 1 member 2 | Pole registreeritud | Esineb 1 haiguses |
| SLC1A4solute carrier family 1 member 4 | Pole registreeritud | Esineb 1 haiguses |
| SLC25A4solute carrier family 25 member 4 | Pole registreeritud | Esineb 1 haiguses |
| SLC2A1solute carrier family 2 member 1 | Pole registreeritud | Esineb 1 haiguses |
| SNX14sorting nexin 14 | Pole registreeritud | Esineb 1 haiguses |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Pole registreeritud | Esineb 1 haiguses |
| STRADASTE20 related adaptor alpha | Pole registreeritud | Esineb 1 haiguses |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Pole registreeritud | Esineb 1 haiguses |
| SYT1synaptotagmin 1 | Pole registreeritud | Esineb 1 haiguses |
| TBC1D23TBC1 domain family member 23 | Pole registreeritud | Esineb 1 haiguses |
| TBR1T-box brain transcription factor 1 | Pole registreeritud | Esineb 1 haiguses |
| TK2thymidine kinase 2 | Pole registreeritud | Esineb 1 haiguses |
| TMEM107transmembrane protein 107 | Pole registreeritud | Esineb 1 haiguses |
| TRAPPC11trafficking protein particle complex subunit 11 | Pole registreeritud | Esineb 1 haiguses |
| TRIM2tripartite motif containing 2 | Pole registreeritud | Esineb 1 haiguses |
| UNC80unc-80 subunit of NALCN channel complex | Pole registreeritud | Esineb 1 haiguses |
| VARS1valyl-tRNA synthetase 1 | Pole registreeritud | Esineb 1 haiguses |
| WDR45BWD repeat domain 45B | Pole registreeritud | Esineb 1 haiguses |
| ZC4H2zinc finger C4H2-type containing | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
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