Cecha
Delayed CNS myelination
Delayed myelination in the central nervous system.
Podsumowanie
- Znana także jako
- Delay in central nervous system myelination
- Układ organizmu
- Abnormality of the nervous system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Delayed CNS myelination, and the rest of your genome, with one test.
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Zamawiam Genome Test233 genów powiązanych z Delayed CNS myelination
Zmiany w tych genach powodują rzadkie choroby, w których występuje Delayed CNS myelination. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| AIFM1apoptosis inducing factor mitochondria associated 1 | Zawsze | W 1 chorobie |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Zawsze | W 1 chorobie |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Zawsze | W 1 chorobie |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Zawsze | W 2 chorobach |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Zawsze | W 1 chorobie |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Zawsze | W 1 chorobie |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Zawsze | W 1 chorobie |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Zawsze | W 1 chorobie |
| ARXaristaless related homeobox | Zawsze | W 1 chorobie |
| ASH1LASH1 like histone lysine methyltransferase | Zawsze | W 1 chorobie |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Zawsze | W 1 chorobie |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Zawsze | W 1 chorobie |
| C18orf32chromosome 18 open reading frame 32 | Zawsze | W 1 chorobie |
| CCT3chaperonin containing TCP1 subunit 3 | Zawsze | W 1 chorobie |
| CLCN3Cl-/H+ antiporter 3 | Zawsze | W 2 chorobach |
| CLCN7Cl-/H+ antiporter 7 | Zawsze | W 1 chorobie |
| COG3component of oligomeric golgi complex 3 | Zawsze | W 1 chorobie |
| COPB2coat protein complex I subunit beta 2 | Zawsze | W 2 chorobach |
| DNM1Ldynamin 1L | Zawsze | W 1 chorobie |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Zawsze | W 1 chorobie |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Zawsze | W 1 chorobie |
| EXOSC1exosome component 1 | Zawsze | W 1 chorobie |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Zawsze | W 1 chorobie |
| FANCLFA complementation group L | Zawsze | W 1 chorobie |
| FOXP1forkhead box P1 | Zawsze | W 1 chorobie |
| GET4guided entry of tail-anchored proteins factor 4 | Zawsze | W 1 chorobie |
| GLSglutaminase | Zawsze | W 1 chorobie |
| GOLGA2golgin A2 | Zawsze | W 1 chorobie |
| GTF2H5general transcription factor IIH subunit 5 | Zawsze | W 1 chorobie |
| GTPBP2GTP binding protein 2 | Zawsze | W 1 chorobie |
| HCFC1host cell factor C1 | Zawsze | W 1 chorobie |
| HIKESHIheat shock protein nuclear import factor hikeshi | Zawsze | W 1 chorobie |
| HMBShydroxymethylbilane synthase | Zawsze | W 1 chorobie |
| INTS11integrator complex subunit 11 | Zawsze | W 1 chorobie |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Zawsze | W 1 chorobie |
| KDM6Blysine demethylase 6B | Zawsze | W 1 chorobie |
| LIPT1lipoyltransferase 1 | Zawsze | W 1 chorobie |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Zawsze | W 1 chorobie |
| MED17mediator complex subunit 17 | Zawsze | W 1 chorobie |
| MMADHCmetabolism of cobalamin associated D | Zawsze | W 1 chorobie |
Pokaż jeszcze 193 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| MSL2MSL complex subunit 2 | Zawsze | W 1 chorobie |
| MTHFSmethenyltetrahydrofolate synthetase | Zawsze | W 1 chorobie |
| NADK2NAD kinase 2, mitochondrial | Zawsze | W 1 chorobie |
| NAE1NEDD8 activating enzyme E1 subunit 1 | Zawsze | W 1 chorobie |
| NGLY1N-glycanase 1 | Zawsze | W 1 chorobie |
| NIPBLNIPBL cohesin loading factor | Zawsze | W 1 chorobie |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Zawsze | W 1 chorobie |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Zawsze | W 1 chorobie |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Zawsze | W 1 chorobie |
| PRMT7protein arginine methyltransferase 7 | Zawsze | W 1 chorobie |
| PTBP1polypyrimidine tract binding protein 1 | Zawsze | W 1 chorobie |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Zawsze | W 1 chorobie |
| SCO2synthesis of cytochrome C oxidase 2 | Zawsze | W 1 chorobie |
| SLC19A1solute carrier family 19 member 1 | Zawsze | W 1 chorobie |
| SLC2A1solute carrier family 2 member 1 | Zawsze | W 1 chorobie |
| SMPD1sphingomyelin phosphodiesterase 1 | Zawsze | W 1 chorobie |
| SNAPINSNAP associated protein | Zawsze | W 1 chorobie |
| SPOUT1SPOUT domain containing methyltransferase 1 | Zawsze | W 1 chorobie |
| TIMM22translocase of inner mitochondrial membrane 22 | Zawsze | W 1 chorobie |
| TMEM106Btransmembrane protein 106B | Zawsze | W 1 chorobie |
| TMEM163transmembrane protein 163 | Zawsze | W 1 chorobie |
| TMEM63Atransmembrane protein 63A | Zawsze | W 1 chorobie |
| TMEM63Btransmembrane protein 63B | Zawsze | W 1 chorobie |
| TPRtranslocated promoter region, nuclear basket protein | Zawsze | W 1 chorobie |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Zawsze | W 1 chorobie |
| WARS1tryptophanyl-tRNA synthetase 1 | Zawsze | W 1 chorobie |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Zawsze | W 1 chorobie |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Bardzo często (80–99%) | W 1 chorobie |
| NRROSnegative regulator of reactive oxygen species | Bardzo często (80–99%) | W 1 chorobie |
| AARS1alanyl-tRNA synthetase 1 | Często (30–79%) | W 1 chorobie |
| ADARB1adenosine deaminase RNA specific B1 | Często (30–79%) | W 1 chorobie |
| AHDC1AT-hook DNA binding motif containing 1 | Często (30–79%) | W 1 chorobie |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Często (30–79%) | W 1 chorobie |
| ARF1ARF GTPase 1 | Często (30–79%) | W 1 chorobie |
| ATP9AATPase phospholipid transporting 9A | Często (30–79%) | W 1 chorobie |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Często (30–79%) | W 1 chorobie |
| BRAT1BRCA1 associated ATM activator 1 | Często (30–79%) | W 1 chorobie |
| CDK19cyclin dependent kinase 19 | Często (30–79%) | W 1 chorobie |
| CLTCL1clathrin heavy chain like 1 | Często (30–79%) | W 1 chorobie |
| CUL3cullin 3 | Często (30–79%) | W 1 chorobie |
| DHX30DExH-box helicase 30 | Często (30–79%) | W 1 chorobie |
| DOHHdeoxyhypusine hydroxylase | Często (30–79%) | W 1 chorobie |
| ELOVL4ELOVL fatty acid elongase 4 | Często (30–79%) | W 1 chorobie |
| EXOC8exocyst complex component 8 | Często (30–79%) | W 1 chorobie |
| EXOSC2exosome component 2 | Często (30–79%) | W 1 chorobie |
| FAR1fatty acyl-CoA reductase 1 | Często (30–79%) | W 1 chorobie |
| FCSKfucose kinase | Często (30–79%) | W 1 chorobie |
| FZR1fizzy and cell division cycle 20 related 1 | Często (30–79%) | W 1 chorobie |
| GEMIN4gem nuclear organelle associated protein 4 | Często (30–79%) | W 1 chorobie |
| GLYCTKglycerate kinase | Często (30–79%) | W 1 chorobie |
| GNAO1G protein subunit alpha o1 | Często (30–79%) | W 2 chorobach |
| IER3IP1immediate early response 3 interacting protein 1 | Często (30–79%) | W 1 chorobie |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Często (30–79%) | W 1 chorobie |
| ITGAVintegrin subunit alpha V | Często (30–79%) | W 1 chorobie |
| JKAMPJNK1/MAPK8 associated membrane protein | Często (30–79%) | W 1 chorobie |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Często (30–79%) | W 1 chorobie |
| KDM1Alysine demethylase 1A | Często (30–79%) | W 1 chorobie |
| KIDINS220kinase D interacting substrate 220 | Często (30–79%) | W 1 chorobie |
| KIF5Akinesin family member 5A | Często (30–79%) | W 1 chorobie |
| LIPT2lipoyl(octanoyl) transferase 2 | Często (30–79%) | W 1 chorobie |
| MADDMAP kinase activating death domain | Często (30–79%) | W 2 chorobach |
| MDH2malate dehydrogenase 2 | Często (30–79%) | W 1 chorobie |
| NACC1nucleus accumbens associated 1 | Często (30–79%) | W 1 chorobie |
| NCDNneurochondrin | Często (30–79%) | W 1 chorobie |
| NEUROD2neuronal differentiation 2 | Często (30–79%) | W 1 chorobie |
| NUP133nucleoporin 133 | Często (30–79%) | W 1 chorobie |
| NUP188nucleoporin 188 | Często (30–79%) | W 1 chorobie |
| PHACTR1phosphatase and actin regulator 1 | Często (30–79%) | W 1 chorobie |
| PIBF1progesterone immunomodulatory binding factor 1 | Często (30–79%) | W 1 chorobie |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Często (30–79%) | W 1 chorobie |
| PKDCCprotein kinase domain containing, cytoplasmic | Często (30–79%) | W 1 chorobie |
| PLAAphospholipase A2 activating protein | Często (30–79%) | W 1 chorobie |
| POGZpogo transposable element derived with ZNF domain | Często (30–79%) | W 2 chorobach |
| POLR2ARNA polymerase II subunit A | Często (30–79%) | W 1 chorobie |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Często (30–79%) | W 1 chorobie |
| PRUNE1prune exopolyphosphatase 1 | Często (30–79%) | W 1 chorobie |
| PURApurine rich element binding protein A | Często (30–79%) | W 1 chorobie |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Często (30–79%) | W 1 chorobie |
| RBSNrabenosyn, RAB effector | Często (30–79%) | W 1 chorobie |
| RNF13ring finger protein 13 | Często (30–79%) | W 1 chorobie |
| SLC1A2solute carrier family 1 member 2 | Często (30–79%) | W 1 chorobie |
| SLC1A4solute carrier family 1 member 4 | Często (30–79%) | W 1 chorobie |
| SLC35B2solute carrier family 35 member B2 | Często (30–79%) | W 1 chorobie |
| STXBP1syntaxin binding protein 1 | Często (30–79%) | W 2 chorobach |
| TAF13TATA-box binding protein associated factor 13 | Często (30–79%) | W 1 chorobie |
| TAF2TATA-box binding protein associated factor 2 | Często (30–79%) | W 1 chorobie |
| TBC1D24TBC1 domain family member 24 | Często (30–79%) | W 1 chorobie |
| TNRtenascin R | Często (30–79%) | W 1 chorobie |
| TRIM8tripartite motif containing 8 | Często (30–79%) | W 1 chorobie |
| TRMT5tRNA methyltransferase 5 | Często (30–79%) | W 1 chorobie |
| UBA5ubiquitin like modifier activating enzyme 5 | Często (30–79%) | W 1 chorobie |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Często (30–79%) | W 1 chorobie |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Często (30–79%) | W 1 chorobie |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Często (30–79%) | W 1 chorobie |
| ZNF526zinc finger protein 526 | Często (30–79%) | W 1 chorobie |
| ACTL6Bactin like 6B | Czasami (5–29%) | W 1 chorobie |
| ADAT3adenosine deaminase tRNA specific 3 | Czasami (5–29%) | W 1 chorobie |
| AFG2AAAA ATPase AFG2A | Czasami (5–29%) | W 1 chorobie |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Czasami (5–29%) | W 1 chorobie |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Czasami (5–29%) | W 1 chorobie |
| ARID1BAT-rich interaction domain 1B | Czasami (5–29%) | W 1 chorobie |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Czasami (5–29%) | W 1 chorobie |
| ATXN7L3ataxin 7 like 3 | Czasami (5–29%) | W 1 chorobie |
| CACNA1Icalcium voltage-gated channel subunit alpha1 I | Czasami (5–29%) | W 1 chorobie |
| CARS1cysteinyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| CDC40cell division cycle 40 | Czasami (5–29%) | W 1 chorobie |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Czasami (5–29%) | W 1 chorobie |
| CILK1ciliogenesis associated kinase 1 | Czasami (5–29%) | W 1 chorobie |
| CLPBClpB family mitochondrial disaggregase | Czasami (5–29%) | W 1 chorobie |
| CLTCclathrin heavy chain | Czasami (5–29%) | W 1 chorobie |
| CNOT3CCR4-NOT transcription complex subunit 3 | Czasami (5–29%) | W 1 chorobie |
| CTNNB1catenin beta 1 | Czasami (5–29%) | W 1 chorobie |
| DDX6DEAD-box helicase 6 | Czasami (5–29%) | W 1 chorobie |
| DHX37DEAH-box helicase 37 | Czasami (5–29%) | W 1 chorobie |
| FAM177A1family with sequence similarity 177 member A1 | Czasami (5–29%) | W 1 chorobie |
| FANCBFA complementation group B | Czasami (5–29%) | W 1 chorobie |
| FBXL4F-box and leucine rich repeat protein 4 | Czasami (5–29%) | W 1 chorobie |
| FBXO28F-box protein 28 | Czasami (5–29%) | W 1 chorobie |
| FDXRferredoxin reductase | Czasami (5–29%) | W 1 chorobie |
| FOCADfocadhesin | Czasami (5–29%) | W 1 chorobie |
| FOXG1forkhead box G1 | Czasami (5–29%) | W 1 chorobie |
| FRMD5FERM domain containing 5 | Czasami (5–29%) | W 1 chorobie |
| FRMPD4FERM and PDZ domain containing 4 | Czasami (5–29%) | W 1 chorobie |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Czasami (5–29%) | W 1 chorobie |
| GNB2G protein subunit beta 2 | Czasami (5–29%) | W 1 chorobie |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Czasami (5–29%) | W 1 chorobie |
| H4C5H4 clustered histone 5 | Czasami (5–29%) | W 1 chorobie |
| HIVEP2HIVEP zinc finger 2 | Czasami (5–29%) | W 1 chorobie |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Czasami (5–29%) | W 1 chorobie |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Czasami (5–29%) | W 1 chorobie |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Czasami (5–29%) | W 1 chorobie |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Czasami (5–29%) | W 1 chorobie |
| KDM2Blysine demethylase 2B | Czasami (5–29%) | W 1 chorobie |
| LGI1leucine rich glioma inactivated 1 | Czasami (5–29%) | W 1 chorobie |
| LMX1BLIM homeobox transcription factor 1 beta | Czasami (5–29%) | W 1 chorobie |
| MED16mediator complex subunit 16 | Czasami (5–29%) | W 1 chorobie |
| MLYCDmalonyl-CoA decarboxylase | Czasami (5–29%) | W 1 chorobie |
| MORC2MORC family CW-type zinc finger 2 | Czasami (5–29%) | W 1 chorobie |
| MPV17mitochondrial inner membrane protein MPV17 | Czasami (5–29%) | W 1 chorobie |
| NARS1asparaginyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Czasami (5–29%) | W 1 chorobie |
| NRCAMneuronal cell adhesion molecule | Czasami (5–29%) | W 1 chorobie |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Czasami (5–29%) | W 1 chorobie |
| PLPBPpyridoxal phosphate binding protein | Czasami (5–29%) | W 1 chorobie |
| POLR3BRNA polymerase III subunit B | Czasami (5–29%) | W 1 chorobie |
| POU3F3POU class 3 homeobox 3 | Czasami (5–29%) | W 1 chorobie |
| PPIL1peptidylprolyl isomerase like 1 | Czasami (5–29%) | W 1 chorobie |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| RAB11BRAB11B, member RAS oncogene family | Czasami (5–29%) | W 1 chorobie |
| RBM8ARNA binding motif protein 8A | Czasami (5–29%) | W 1 chorobie |
| REREarginine-glutamic acid dipeptide repeats | Czasami (5–29%) | W 1 chorobie |
| RFX7regulatory factor X7 | Czasami (5–29%) | W 1 chorobie |
| RHOBTB2Rho related BTB domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Czasami (5–29%) | W 1 chorobie |
| RNU7-1RNA, U7 small nuclear 1 | Czasami (5–29%) | W 1 chorobie |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Czasami (5–29%) | W 1 chorobie |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Czasami (5–29%) | W 1 chorobie |
| SIN3ASIN3 transcription regulator family member A | Czasami (5–29%) | W 1 chorobie |
| SLC35A2solute carrier family 35 member A2 | Czasami (5–29%) | W 1 chorobie |
| SLC6A1solute carrier family 6 member 1 | Czasami (5–29%) | W 1 chorobie |
| TMEM240transmembrane protein 240 | Czasami (5–29%) | W 1 chorobie |
| TRA2Btransformer 2 beta homolog | Czasami (5–29%) | W 1 chorobie |
| TRNT1tRNA nucleotidyl transferase 1 | Czasami (5–29%) | W 1 chorobie |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Czasami (5–29%) | W 1 chorobie |
| UNC13Aunc-13 homolog A | Czasami (5–29%) | W 1 chorobie |
| UPB1beta-ureidopropionase 1 | Czasami (5–29%) | W 1 chorobie |
| WDR83OSWD repeat domain 83 opposite strand | Czasami (5–29%) | W 1 chorobie |
| WWOXWW domain containing oxidoreductase | Czasami (5–29%) | W 1 chorobie |
| YME1L1YME1 like 1 ATPase | Czasami (5–29%) | W 1 chorobie |
| YY1YY1 transcription factor | Czasami (5–29%) | W 1 chorobie |
| ZFXzinc finger protein X-linked | Czasami (5–29%) | W 1 chorobie |
| ZNF148zinc finger protein 148 | Czasami (5–29%) | W 1 chorobie |
| TRRAPtransformation/transcription domain associated protein | Rzadko (1–4%) | W 1 chorobie |
| ACY1aminoacylase 1 | Nie odnotowano | W 1 chorobie |
| BMP4bone morphogenetic protein 4 | Nie odnotowano | W 1 chorobie |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Nie odnotowano | W 1 chorobie |
| ITPAinosine triphosphatase | Nie odnotowano | W 1 chorobie |
| MMUTmethylmalonyl-CoA mutase | Nie odnotowano | W 1 chorobie |
| PEX7peroxisomal biogenesis factor 7 | Nie odnotowano | W 1 chorobie |
| SLC12A5solute carrier family 12 member 5 | Nie odnotowano | W 1 chorobie |
| SLC16A2solute carrier family 16 member 2 | Nie odnotowano | W 1 chorobie |
| SMG9SMG9 nonsense mediated mRNA decay factor | Nie odnotowano | W 1 chorobie |
| TGFB1transforming growth factor beta 1 | Nie odnotowano | W 1 chorobie |
| TKFCtriokinase and FMN cyclase | Nie odnotowano | W 1 chorobie |
| TMEM147transmembrane protein 147 | Nie odnotowano | W 1 chorobie |
| TNPO2transportin 2 | Nie odnotowano | W 1 chorobie |
| TXN2thioredoxin 2 | Nie odnotowano | W 1 chorobie |
| UGDHUDP-glucose 6-dehydrogenase | Nie odnotowano | W 1 chorobie |
| ZC4H2zinc finger C4H2-type containing | Nie odnotowano | W 1 chorobie |
| ZMIZ1zinc finger MIZ-type containing 1 | Nie odnotowano | W 1 chorobie |
| ZNF335zinc finger protein 335 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
Jeden test. Odpowiedzi na całe życie.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni