VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Delayed myelination, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test119 geeni on seotud tunnusega Delayed myelination
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Delayed myelination. 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 |
|---|---|---|
| TXN2thioredoxin 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADAMTSL1ADAMTS like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| AHCYadenosylhomocysteinase | Sageli (30–79%) | Esineb 1 haiguses |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Sageli (30–79%) | Esineb 1 haiguses |
| GATAD2BGATA zinc finger domain containing 2B | Sageli (30–79%) | Esineb 1 haiguses |
| NGLY1N-glycanase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| OCA2OCA2 melanosomal transmembrane protein | Sageli (30–79%) | Esineb 1 haiguses |
| PHGDHphosphoglycerate dehydrogenase | Sageli (30–79%) | Esineb 1 haiguses |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Sageli (30–79%) | Esineb 1 haiguses |
| PLAAphospholipase A2 activating protein | Sageli (30–79%) | Esineb 1 haiguses |
| PMM2phosphomannomutase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Sageli (30–79%) | Esineb 1 haiguses |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PRUNE1prune exopolyphosphatase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PURApurine rich element binding protein A | Sageli (30–79%) | Esineb 1 haiguses |
| SATB2SATB homeobox 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC16A2solute carrier family 16 member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC35A2solute carrier family 35 member A2 | Sageli (30–79%) | Esineb 1 haiguses |
| TAF2TATA-box binding protein associated factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| UBE3Aubiquitin protein ligase E3A | Sageli (30–79%) | Esineb 1 haiguses |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| ADAT3adenosine deaminase tRNA specific 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AHDC1AT-hook DNA binding motif containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARXaristaless related homeobox | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASXL1ASXL transcriptional regulator 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Mõnikord (5–29%) | Esineb 1 haiguses |
| CASKcalcium/calmodulin dependent serine protein kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDKL5cyclin dependent kinase like 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLCN4Cl-/H+ antiporter 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLTCclathrin heavy chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| COG5component of oligomeric golgi complex 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COX7Bcytochrome c oxidase subunit 7B | Mõnikord (5–29%) | Esineb 1 haiguses |
| CREBBPCREB binding lysine acetyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRELD1CRELD disulfide isomerase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DCXdoublecortin | Mõnikord (5–29%) | Esineb 1 haiguses |
Näita veel 79 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| DMXL2Dmx like 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EP300EP300 lysine acetyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FDXRferredoxin reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FHfumarate hydratase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNAO1G protein subunit alpha o1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB1G protein subunit beta 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRM7glutamate metabotropic receptor 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFIH1interferon induced with helicase C domain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM1Alysine demethylase 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| LGI1leucine rich glioma inactivated 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| NACC1nucleus accumbens associated 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEUROD2neuronal differentiation 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Mõnikord (5–29%) | Esineb 2 haiguses |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLCB1phospholipase C beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PNKPpolynucleotide kinase 3'-phosphatase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Mõnikord (5–29%) | Esineb 2 haiguses |
| PSAT1phosphoserine aminotransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RHOBTB2Rho related BTB domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNF13ring finger protein 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SIK1salt inducible kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC12A5solute carrier family 12 member 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC25A22solute carrier family 25 member 22 | Mõnikord (5–29%) | Esineb 3 haiguses |
| SLC2A1solute carrier family 2 member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC32A1solute carrier family 32 member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPTBN1spectrin beta, non-erythrocytic 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYT1synaptotagmin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBC1D24TBC1 domain family member 24 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TRIM8tripartite motif containing 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRMT10AtRNA methyltransferase 10A | Mõnikord (5–29%) | Esineb 1 haiguses |
| UPB1beta-ureidopropionase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Mõnikord (5–29%) | Esineb 1 haiguses |
| YY1YY1 transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| CYB5Acytochrome b5 type A | Harva (1–4%) | Esineb 1 haiguses |
| CYB5R3cytochrome b5 reductase 3 | Harva (1–4%) | Esineb 1 haiguses |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Harva (1–4%) | Esineb 1 haiguses |
| PAK1p21 (RAC1) activated kinase 1 | Harva (1–4%) | Esineb 1 haiguses |
| POGZpogo transposable element derived with ZNF domain | Harva (1–4%) | Esineb 1 haiguses |
| STXBP1syntaxin binding protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Pole registreeritud | Esineb 1 haiguses |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| COG7component of oligomeric golgi complex 7 | Pole registreeritud | Esineb 1 haiguses |
| DHFRdihydrofolate reductase | Pole registreeritud | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Pole registreeritud | Esineb 1 haiguses |
| FLCNfolliculin | Pole registreeritud | Esineb 1 haiguses |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Pole registreeritud | Esineb 1 haiguses |
| GFM1G elongation factor mitochondrial 1 | Pole registreeritud | Esineb 1 haiguses |
| GMNNgeminin DNA replication inhibitor | Pole registreeritud | Esineb 1 haiguses |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Pole registreeritud | Esineb 1 haiguses |
| IREB2iron responsive element binding protein 2 | Pole registreeritud | Esineb 1 haiguses |
| ISCA1iron-sulfur cluster assembly 1 | Pole registreeritud | Esineb 1 haiguses |
| KMT2Elysine methyltransferase 2E (inactive) | Pole registreeritud | Esineb 1 haiguses |
| MAN2B1mannosidase alpha class 2B member 1 | Pole registreeritud | Esineb 1 haiguses |
| MRPS22mitochondrial ribosomal protein S22 | Pole registreeritud | Esineb 1 haiguses |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Pole registreeritud | Esineb 1 haiguses |
| RAI1retinoic acid induced 1 | Pole registreeritud | Esineb 1 haiguses |
| RMND1required for meiotic nuclear division 1 homolog | Pole registreeritud | Esineb 1 haiguses |
| RNASEH2Cribonuclease H2 subunit C | Pole registreeritud | Esineb 1 haiguses |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Pole registreeritud | Esineb 1 haiguses |
| SLC13A5solute carrier family 13 member 5 | Pole registreeritud | Esineb 1 haiguses |
| SLC25A1solute carrier family 25 member 1 | Pole registreeritud | Esineb 1 haiguses |
| SLC6A8solute carrier family 6 member 8 | Pole registreeritud | Esineb 1 haiguses |
| STAMBPSTAM binding protein | Pole registreeritud | Esineb 1 haiguses |
| TBCEtubulin folding cofactor E | Pole registreeritud | Esineb 1 haiguses |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | 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.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast