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Tunnus
CNS hypomyelination
Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.
Kokkuvõte
- Kehasüsteem
- Abnormality of the nervous system
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Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/cns-hypomyelination.json"
page <- fromJSON(url)
page$trait$nameCNS hypomyelinationHP:0003429
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Lugege välja geenid, mis on seotud CNS hypomyelination-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test89 geeni on seotud tunnusega CNS hypomyelination
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb CNS hypomyelination. 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 |
|---|---|---|
| ACBD5acyl-CoA binding domain containing 5 | Alati | Esineb 1 haiguses |
| BORCS8BLOC-1 related complex subunit 8 | Alati | Esineb 1 haiguses |
| C2CD3C2 domain containing 3 centriole elongation regulator | Alati | Esineb 1 haiguses |
| CCT3chaperonin containing TCP1 subunit 3 | Alati | Esineb 1 haiguses |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Alati | Esineb 1 haiguses |
| CLDN11claudin 11 | Alati | Esineb 1 haiguses |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| EXOSC5exosome component 5 | Alati | Esineb 1 haiguses |
| FBXL4F-box and leucine rich repeat protein 4 | Alati | Esineb 1 haiguses |
| FUCA1alpha-L-fucosidase 1 | Alati | Esineb 1 haiguses |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Alati | Esineb 1 haiguses |
| GJC2gap junction protein gamma 2 | Alati | Esineb 2 haiguses |
| GLULglutamate-ammonia ligase | Alati | Esineb 2 haiguses |
| GTPBP1GTP binding protein 1 | Alati | Esineb 1 haiguses |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Alati | Esineb 1 haiguses |
| INTUinturned planar cell polarity protein | Alati | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alati | Esineb 1 haiguses |
| PLP1proteolipid protein 1 | Alati | Esineb 4 haiguses |
| POLR1ARNA polymerase I subunit A | Alati | Esineb 1 haiguses |
| POLR1CRNA polymerase I and III subunit C | Alati | Esineb 2 haiguses |
| POLR3BRNA polymerase III subunit B | Alati | Esineb 3 haiguses |
| PYCR2pyrroline-5-carboxylate reductase 2 | Alati | Esineb 2 haiguses |
| RNF220ring finger protein 220 | Alati | Esineb 1 haiguses |
| RNU2-2RNA, U2 small nuclear 2 | Alati | Esineb 1 haiguses |
| SLC33A1solute carrier family 33 member 1 | Alati | Esineb 1 haiguses |
| SNIP1Smad nuclear interacting protein 1 | Alati | Esineb 1 haiguses |
| C2orf69chromosome 2 open reading frame 69 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| GANgigaxonin | Väga sageli (80–99%) | Esineb 1 haiguses |
| GRM7glutamate metabotropic receptor 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTPBP2GTP binding protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NKX6-2NK6 homeobox 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| POLR3ARNA polymerase III subunit A | Väga sageli (80–99%) | Esineb 4 haiguses |
| AARS1alanyl-tRNA synthetase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ADSLadenylosuccinate lyase | Sageli (30–79%) | Esineb 1 haiguses |
| AHCYadenosylhomocysteinase | Sageli (30–79%) | Esineb 1 haiguses |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP13A2ATPase cation transporting 13A2 | Sageli (30–79%) | Esineb 1 haiguses |
| CHKAcholine kinase alpha | Sageli (30–79%) | Esineb 1 haiguses |
| DALRD3DALR anticodon binding domain containing 3 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 49 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| DARS1aspartyl-tRNA synthetase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Sageli (30–79%) | Esineb 1 haiguses |
| ELOVL1ELOVL fatty acid elongase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ERLIN1ER lipid raft associated 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EXOC2exocyst complex component 2 | Sageli (30–79%) | Esineb 1 haiguses |
| FUSFUS RNA binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| HEXBhexosaminidase subunit beta | Sageli (30–79%) | Esineb 2 haiguses |
| LEMD2LEM domain nuclear envelope protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NOP10NOP10 ribonucleoprotein | Sageli (30–79%) | Esineb 1 haiguses |
| PURApurine rich element binding protein A | Sageli (30–79%) | Esineb 1 haiguses |
| SIGMAR1sigma receptor chaperone 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMPD4sphingomyelin phosphodiesterase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| SORDsorbitol dehydrogenase | Sageli (30–79%) | Esineb 1 haiguses |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Sageli (30–79%) | Esineb 1 haiguses |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| STAMBPSTAM binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TARDBPTAR DNA binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| TIAM1TIAM Rac1 associated GEF 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TRMT2BtRNA methyltransferase 2B | Sageli (30–79%) | Esineb 1 haiguses |
| UBQLN2ubiquilin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| AFG2AAAA ATPase AFG2A | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP6V1AATPase H+ transporting V1 subunit A | Mõnikord (5–29%) | Esineb 1 haiguses |
| BCAP31B cell receptor associated protein 31 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT56intraflagellar transport 56 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LGI1leucine rich glioma inactivated 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED27mediator complex subunit 27 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBCDtubulin folding cofactor D | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRAPPC11trafficking protein particle complex subunit 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| WSB2WD repeat and SOCS box containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| CNTNAP1contactin associated protein 1 | Pole registreeritud | Esineb 1 haiguses |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Pole registreeritud | Esineb 1 haiguses |
| GDAP1ganglioside induced differentiation associated protein 1 | Pole registreeritud | Esineb 1 haiguses |
| MTHFSmethenyltetrahydrofolate synthetase | Pole registreeritud | Esineb 1 haiguses |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| PEX13peroxisomal biogenesis factor 13 | Pole registreeritud | Esineb 1 haiguses |
| PI4KAphosphatidylinositol 4-kinase alpha | Pole registreeritud | Esineb 1 haiguses |
| QARS1glutaminyl-tRNA synthetase 1 | Pole registreeritud | Esineb 1 haiguses |
| RMND1required for meiotic nuclear division 1 homolog | Pole registreeritud | Esineb 1 haiguses |
| SPTAN1spectrin alpha, non-erythrocytic 1 | 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 2026.10.17-8666dff2.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast