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Požymis
Delayed CNS myelination
Delayed myelination in the central nervous system.
Santrauka
- Taip pat vadinama
- Delay in central nervous system myelination
- Kūno sistema
- Abnormality of the nervous system
Delayed CNS myelinationHP:0002188
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Read the genes linked to Delayed CNS myelination, and the rest of your genome, with one test.
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Įsigyti savo Genome Test233 genų susiję su Delayed CNS myelination
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Delayed CNS myelination. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| AIFM1apoptosis inducing factor mitochondria associated 1 | Visada | 1 ligoje |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Visada | 1 ligoje |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Visada | 1 ligoje |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Visada | 2 ligose |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Visada | 1 ligoje |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Visada | 1 ligoje |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Visada | 1 ligoje |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Visada | 1 ligoje |
| ARXaristaless related homeobox | Visada | 1 ligoje |
| ASH1LASH1 like histone lysine methyltransferase | Visada | 1 ligoje |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Visada | 1 ligoje |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Visada | 1 ligoje |
| C18orf32chromosome 18 open reading frame 32 | Visada | 1 ligoje |
| CCT3chaperonin containing TCP1 subunit 3 | Visada | 1 ligoje |
| CLCN3Cl-/H+ antiporter 3 | Visada | 2 ligose |
| CLCN7Cl-/H+ antiporter 7 | Visada | 1 ligoje |
| COG3component of oligomeric golgi complex 3 | Visada | 1 ligoje |
| COPB2coat protein complex I subunit beta 2 | Visada | 2 ligose |
| DNM1Ldynamin 1L | Visada | 1 ligoje |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Visada | 1 ligoje |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Visada | 1 ligoje |
| EXOSC1exosome component 1 | Visada | 1 ligoje |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Visada | 1 ligoje |
| FANCLFA complementation group L | Visada | 1 ligoje |
| FOXP1forkhead box P1 | Visada | 1 ligoje |
| GET4guided entry of tail-anchored proteins factor 4 | Visada | 1 ligoje |
| GLSglutaminase | Visada | 1 ligoje |
| GOLGA2golgin A2 | Visada | 1 ligoje |
| GTF2H5general transcription factor IIH subunit 5 | Visada | 1 ligoje |
| GTPBP2GTP binding protein 2 | Visada | 1 ligoje |
| HCFC1host cell factor C1 | Visada | 1 ligoje |
| HIKESHIheat shock protein nuclear import factor hikeshi | Visada | 1 ligoje |
| HMBShydroxymethylbilane synthase | Visada | 1 ligoje |
| INTS11integrator complex subunit 11 | Visada | 1 ligoje |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| LIPT1lipoyltransferase 1 | Visada | 1 ligoje |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Visada | 1 ligoje |
| MED17mediator complex subunit 17 | Visada | 1 ligoje |
| MMADHCmetabolism of cobalamin associated D | Visada | 1 ligoje |
Rodyti dar 193 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| MSL2MSL complex subunit 2 | Visada | 1 ligoje |
| MTHFSmethenyltetrahydrofolate synthetase | Visada | 1 ligoje |
| NADK2NAD kinase 2, mitochondrial | Visada | 1 ligoje |
| NAE1NEDD8 activating enzyme E1 subunit 1 | Visada | 1 ligoje |
| NGLY1N-glycanase 1 | Visada | 1 ligoje |
| NIPBLNIPBL cohesin loading factor | Visada | 1 ligoje |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Visada | 1 ligoje |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Visada | 1 ligoje |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Visada | 1 ligoje |
| PRMT7protein arginine methyltransferase 7 | Visada | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Visada | 1 ligoje |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Visada | 1 ligoje |
| SCO2synthesis of cytochrome C oxidase 2 | Visada | 1 ligoje |
| SLC19A1solute carrier family 19 member 1 | Visada | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Visada | 1 ligoje |
| SMPD1sphingomyelin phosphodiesterase 1 | Visada | 1 ligoje |
| SNAPINSNAP associated protein | Visada | 1 ligoje |
| SPOUT1SPOUT domain containing methyltransferase 1 | Visada | 1 ligoje |
| TIMM22translocase of inner mitochondrial membrane 22 | Visada | 1 ligoje |
| TMEM106Btransmembrane protein 106B | Visada | 1 ligoje |
| TMEM163transmembrane protein 163 | Visada | 1 ligoje |
| TMEM63Atransmembrane protein 63A | Visada | 1 ligoje |
| TMEM63Btransmembrane protein 63B | Visada | 1 ligoje |
| TPRtranslocated promoter region, nuclear basket protein | Visada | 1 ligoje |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Visada | 1 ligoje |
| WARS1tryptophanyl-tRNA synthetase 1 | Visada | 1 ligoje |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Visada | 1 ligoje |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Labai dažnai (80–99%) | 1 ligoje |
| NRROSnegative regulator of reactive oxygen species | Labai dažnai (80–99%) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| ADARB1adenosine deaminase RNA specific B1 | Dažnai (30–79%) | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Dažnai (30–79%) | 1 ligoje |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Dažnai (30–79%) | 1 ligoje |
| ARF1ARF GTPase 1 | Dažnai (30–79%) | 1 ligoje |
| ATP9AATPase phospholipid transporting 9A | Dažnai (30–79%) | 1 ligoje |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Dažnai (30–79%) | 1 ligoje |
| BRAT1BRCA1 associated ATM activator 1 | Dažnai (30–79%) | 1 ligoje |
| CDK19cyclin dependent kinase 19 | Dažnai (30–79%) | 1 ligoje |
| CLTCL1clathrin heavy chain like 1 | Dažnai (30–79%) | 1 ligoje |
| CUL3cullin 3 | Dažnai (30–79%) | 1 ligoje |
| DHX30DExH-box helicase 30 | Dažnai (30–79%) | 1 ligoje |
| DOHHdeoxyhypusine hydroxylase | Dažnai (30–79%) | 1 ligoje |
| ELOVL4ELOVL fatty acid elongase 4 | Dažnai (30–79%) | 1 ligoje |
| EXOC8exocyst complex component 8 | Dažnai (30–79%) | 1 ligoje |
| EXOSC2exosome component 2 | Dažnai (30–79%) | 1 ligoje |
| FAR1fatty acyl-CoA reductase 1 | Dažnai (30–79%) | 1 ligoje |
| FCSKfucose kinase | Dažnai (30–79%) | 1 ligoje |
| FZR1fizzy and cell division cycle 20 related 1 | Dažnai (30–79%) | 1 ligoje |
| GEMIN4gem nuclear organelle associated protein 4 | Dažnai (30–79%) | 1 ligoje |
| GLYCTKglycerate kinase | Dažnai (30–79%) | 1 ligoje |
| GNAO1G protein subunit alpha o1 | Dažnai (30–79%) | 2 ligose |
| IER3IP1immediate early response 3 interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Dažnai (30–79%) | 1 ligoje |
| ITGAVintegrin subunit alpha V | Dažnai (30–79%) | 1 ligoje |
| JKAMPJNK1/MAPK8 associated membrane protein | Dažnai (30–79%) | 1 ligoje |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Dažnai (30–79%) | 1 ligoje |
| KDM1Alysine demethylase 1A | Dažnai (30–79%) | 1 ligoje |
| KIDINS220kinase D interacting substrate 220 | Dažnai (30–79%) | 1 ligoje |
| KIF5Akinesin family member 5A | Dažnai (30–79%) | 1 ligoje |
| LIPT2lipoyl(octanoyl) transferase 2 | Dažnai (30–79%) | 1 ligoje |
| MADDMAP kinase activating death domain | Dažnai (30–79%) | 2 ligose |
| MDH2malate dehydrogenase 2 | Dažnai (30–79%) | 1 ligoje |
| NACC1nucleus accumbens associated 1 | Dažnai (30–79%) | 1 ligoje |
| NCDNneurochondrin | Dažnai (30–79%) | 1 ligoje |
| NEUROD2neuronal differentiation 2 | Dažnai (30–79%) | 1 ligoje |
| NUP133nucleoporin 133 | Dažnai (30–79%) | 1 ligoje |
| NUP188nucleoporin 188 | Dažnai (30–79%) | 1 ligoje |
| PHACTR1phosphatase and actin regulator 1 | Dažnai (30–79%) | 1 ligoje |
| PIBF1progesterone immunomodulatory binding factor 1 | Dažnai (30–79%) | 1 ligoje |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Dažnai (30–79%) | 1 ligoje |
| PKDCCprotein kinase domain containing, cytoplasmic | Dažnai (30–79%) | 1 ligoje |
| PLAAphospholipase A2 activating protein | Dažnai (30–79%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Dažnai (30–79%) | 2 ligose |
| POLR2ARNA polymerase II subunit A | Dažnai (30–79%) | 1 ligoje |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Dažnai (30–79%) | 1 ligoje |
| PRUNE1prune exopolyphosphatase 1 | Dažnai (30–79%) | 1 ligoje |
| PURApurine rich element binding protein A | Dažnai (30–79%) | 1 ligoje |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Dažnai (30–79%) | 1 ligoje |
| RBSNrabenosyn, RAB effector | Dažnai (30–79%) | 1 ligoje |
| RNF13ring finger protein 13 | Dažnai (30–79%) | 1 ligoje |
| SLC1A2solute carrier family 1 member 2 | Dažnai (30–79%) | 1 ligoje |
| SLC1A4solute carrier family 1 member 4 | Dažnai (30–79%) | 1 ligoje |
| SLC35B2solute carrier family 35 member B2 | Dažnai (30–79%) | 1 ligoje |
| STXBP1syntaxin binding protein 1 | Dažnai (30–79%) | 2 ligose |
| TAF13TATA-box binding protein associated factor 13 | Dažnai (30–79%) | 1 ligoje |
| TAF2TATA-box binding protein associated factor 2 | Dažnai (30–79%) | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Dažnai (30–79%) | 1 ligoje |
| TNRtenascin R | Dažnai (30–79%) | 1 ligoje |
| TRIM8tripartite motif containing 8 | Dažnai (30–79%) | 1 ligoje |
| TRMT5tRNA methyltransferase 5 | Dažnai (30–79%) | 1 ligoje |
| UBA5ubiquitin like modifier activating enzyme 5 | Dažnai (30–79%) | 1 ligoje |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Dažnai (30–79%) | 1 ligoje |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Dažnai (30–79%) | 1 ligoje |
| ZNF526zinc finger protein 526 | Dažnai (30–79%) | 1 ligoje |
| ACTL6Bactin like 6B | Kartais (5–29%) | 1 ligoje |
| ADAT3adenosine deaminase tRNA specific 3 | Kartais (5–29%) | 1 ligoje |
| AFG2AAAA ATPase AFG2A | Kartais (5–29%) | 1 ligoje |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Kartais (5–29%) | 1 ligoje |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Kartais (5–29%) | 1 ligoje |
| ARID1BAT-rich interaction domain 1B | Kartais (5–29%) | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Kartais (5–29%) | 1 ligoje |
| ATXN7L3ataxin 7 like 3 | Kartais (5–29%) | 1 ligoje |
| CACNA1Icalcium voltage-gated channel subunit alpha1 I | Kartais (5–29%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CDC40cell division cycle 40 | Kartais (5–29%) | 1 ligoje |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Kartais (5–29%) | 1 ligoje |
| CILK1ciliogenesis associated kinase 1 | Kartais (5–29%) | 1 ligoje |
| CLPBClpB family mitochondrial disaggregase | Kartais (5–29%) | 1 ligoje |
| CLTCclathrin heavy chain | Kartais (5–29%) | 1 ligoje |
| CNOT3CCR4-NOT transcription complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| CTNNB1catenin beta 1 | Kartais (5–29%) | 1 ligoje |
| DDX6DEAD-box helicase 6 | Kartais (5–29%) | 1 ligoje |
| DHX37DEAH-box helicase 37 | Kartais (5–29%) | 1 ligoje |
| FAM177A1family with sequence similarity 177 member A1 | Kartais (5–29%) | 1 ligoje |
| FANCBFA complementation group B | Kartais (5–29%) | 1 ligoje |
| FBXL4F-box and leucine rich repeat protein 4 | Kartais (5–29%) | 1 ligoje |
| FBXO28F-box protein 28 | Kartais (5–29%) | 1 ligoje |
| FDXRferredoxin reductase | Kartais (5–29%) | 1 ligoje |
| FOCADfocadhesin | Kartais (5–29%) | 1 ligoje |
| FOXG1forkhead box G1 | Kartais (5–29%) | 1 ligoje |
| FRMD5FERM domain containing 5 | Kartais (5–29%) | 1 ligoje |
| FRMPD4FERM and PDZ domain containing 4 | Kartais (5–29%) | 1 ligoje |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Kartais (5–29%) | 1 ligoje |
| GNB2G protein subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Kartais (5–29%) | 1 ligoje |
| H4C5H4 clustered histone 5 | Kartais (5–29%) | 1 ligoje |
| HIVEP2HIVEP zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Kartais (5–29%) | 1 ligoje |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Kartais (5–29%) | 1 ligoje |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Kartais (5–29%) | 1 ligoje |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Kartais (5–29%) | 1 ligoje |
| KDM2Blysine demethylase 2B | Kartais (5–29%) | 1 ligoje |
| LGI1leucine rich glioma inactivated 1 | Kartais (5–29%) | 1 ligoje |
| LMX1BLIM homeobox transcription factor 1 beta | Kartais (5–29%) | 1 ligoje |
| MED16mediator complex subunit 16 | Kartais (5–29%) | 1 ligoje |
| MLYCDmalonyl-CoA decarboxylase | Kartais (5–29%) | 1 ligoje |
| MORC2MORC family CW-type zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| MPV17mitochondrial inner membrane protein MPV17 | Kartais (5–29%) | 1 ligoje |
| NARS1asparaginyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Kartais (5–29%) | 1 ligoje |
| NRCAMneuronal cell adhesion molecule | Kartais (5–29%) | 1 ligoje |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Kartais (5–29%) | 1 ligoje |
| PLPBPpyridoxal phosphate binding protein | Kartais (5–29%) | 1 ligoje |
| POLR3BRNA polymerase III subunit B | Kartais (5–29%) | 1 ligoje |
| POU3F3POU class 3 homeobox 3 | Kartais (5–29%) | 1 ligoje |
| PPIL1peptidylprolyl isomerase like 1 | Kartais (5–29%) | 1 ligoje |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| RAB11BRAB11B, member RAS oncogene family | Kartais (5–29%) | 1 ligoje |
| RBM8ARNA binding motif protein 8A | Kartais (5–29%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 1 ligoje |
| RFX7regulatory factor X7 | Kartais (5–29%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Kartais (5–29%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| RNU7-1RNA, U7 small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Kartais (5–29%) | 1 ligoje |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Kartais (5–29%) | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Kartais (5–29%) | 1 ligoje |
| SLC35A2solute carrier family 35 member A2 | Kartais (5–29%) | 1 ligoje |
| SLC6A1solute carrier family 6 member 1 | Kartais (5–29%) | 1 ligoje |
| TMEM240transmembrane protein 240 | Kartais (5–29%) | 1 ligoje |
| TRA2Btransformer 2 beta homolog | Kartais (5–29%) | 1 ligoje |
| TRNT1tRNA nucleotidyl transferase 1 | Kartais (5–29%) | 1 ligoje |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Kartais (5–29%) | 1 ligoje |
| UNC13Aunc-13 homolog A | Kartais (5–29%) | 1 ligoje |
| UPB1beta-ureidopropionase 1 | Kartais (5–29%) | 1 ligoje |
| WDR83OSWD repeat domain 83 opposite strand | Kartais (5–29%) | 1 ligoje |
| WWOXWW domain containing oxidoreductase | Kartais (5–29%) | 1 ligoje |
| YME1L1YME1 like 1 ATPase | Kartais (5–29%) | 1 ligoje |
| YY1YY1 transcription factor | Kartais (5–29%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| ZNF148zinc finger protein 148 | Kartais (5–29%) | 1 ligoje |
| TRRAPtransformation/transcription domain associated protein | Retai (1–4 %) | 1 ligoje |
| ACY1aminoacylase 1 | Neužfiksuota | 1 ligoje |
| BMP4bone morphogenetic protein 4 | Neužfiksuota | 1 ligoje |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Neužfiksuota | 1 ligoje |
| ITPAinosine triphosphatase | Neužfiksuota | 1 ligoje |
| MMUTmethylmalonyl-CoA mutase | Neužfiksuota | 1 ligoje |
| PEX7peroxisomal biogenesis factor 7 | Neužfiksuota | 1 ligoje |
| SLC12A5solute carrier family 12 member 5 | Neužfiksuota | 1 ligoje |
| SLC16A2solute carrier family 16 member 2 | Neužfiksuota | 1 ligoje |
| SMG9SMG9 nonsense mediated mRNA decay factor | Neužfiksuota | 1 ligoje |
| TGFB1transforming growth factor beta 1 | Neužfiksuota | 1 ligoje |
| TKFCtriokinase and FMN cyclase | Neužfiksuota | 1 ligoje |
| TMEM147transmembrane protein 147 | Neužfiksuota | 1 ligoje |
| TNPO2transportin 2 | Neužfiksuota | 1 ligoje |
| TXN2thioredoxin 2 | Neužfiksuota | 1 ligoje |
| UGDHUDP-glucose 6-dehydrogenase | Neužfiksuota | 1 ligoje |
| ZC4H2zinc finger C4H2-type containing | Neužfiksuota | 1 ligoje |
| ZMIZ1zinc finger MIZ-type containing 1 | Neužfiksuota | 1 ligoje |
| ZNF335zinc finger protein 335 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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