Tunnus
Delayed CNS myelination
Delayed myelination in the central nervous system.
Kokkuvõte
- Teised nimetused
- Delay in central nervous system myelination
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Delayed CNS myelination, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test233 geeni on seotud tunnusega Delayed CNS myelination
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Delayed CNS 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 |
|---|---|---|
| AIFM1apoptosis inducing factor mitochondria associated 1 | Alati | Esineb 1 haiguses |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Alati | Esineb 1 haiguses |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Alati | Esineb 1 haiguses |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Alati | Esineb 2 haiguses |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Alati | Esineb 1 haiguses |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Alati | Esineb 1 haiguses |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Alati | Esineb 1 haiguses |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Alati | Esineb 1 haiguses |
| ARXaristaless related homeobox | Alati | Esineb 1 haiguses |
| ASH1LASH1 like histone lysine methyltransferase | Alati | Esineb 1 haiguses |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Alati | Esineb 1 haiguses |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Alati | Esineb 1 haiguses |
| C18orf32chromosome 18 open reading frame 32 | Alati | Esineb 1 haiguses |
| CCT3chaperonin containing TCP1 subunit 3 | Alati | Esineb 1 haiguses |
| CLCN3Cl-/H+ antiporter 3 | Alati | Esineb 2 haiguses |
| CLCN7Cl-/H+ antiporter 7 | Alati | Esineb 1 haiguses |
| COG3component of oligomeric golgi complex 3 | Alati | Esineb 1 haiguses |
| COPB2coat protein complex I subunit beta 2 | Alati | Esineb 2 haiguses |
| DNM1Ldynamin 1L | Alati | Esineb 1 haiguses |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Alati | Esineb 1 haiguses |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alati | Esineb 1 haiguses |
| EXOSC1exosome component 1 | Alati | Esineb 1 haiguses |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Alati | Esineb 1 haiguses |
| FANCLFA complementation group L | Alati | Esineb 1 haiguses |
| FOXP1forkhead box P1 | Alati | Esineb 1 haiguses |
| GET4guided entry of tail-anchored proteins factor 4 | Alati | Esineb 1 haiguses |
| GLSglutaminase | Alati | Esineb 1 haiguses |
| GOLGA2golgin A2 | Alati | Esineb 1 haiguses |
| GTF2H5general transcription factor IIH subunit 5 | Alati | Esineb 1 haiguses |
| GTPBP2GTP binding protein 2 | Alati | Esineb 1 haiguses |
| HCFC1host cell factor C1 | Alati | Esineb 1 haiguses |
| HIKESHIheat shock protein nuclear import factor hikeshi | Alati | Esineb 1 haiguses |
| HMBShydroxymethylbilane synthase | Alati | Esineb 1 haiguses |
| INTS11integrator complex subunit 11 | Alati | Esineb 1 haiguses |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Alati | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| LIPT1lipoyltransferase 1 | Alati | Esineb 1 haiguses |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Alati | Esineb 1 haiguses |
| MED17mediator complex subunit 17 | Alati | Esineb 1 haiguses |
| MMADHCmetabolism of cobalamin associated D | Alati | Esineb 1 haiguses |
Näita veel 193 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| MSL2MSL complex subunit 2 | Alati | Esineb 1 haiguses |
| MTHFSmethenyltetrahydrofolate synthetase | Alati | Esineb 1 haiguses |
| NADK2NAD kinase 2, mitochondrial | Alati | Esineb 1 haiguses |
| NAE1NEDD8 activating enzyme E1 subunit 1 | Alati | Esineb 1 haiguses |
| NGLY1N-glycanase 1 | Alati | Esineb 1 haiguses |
| NIPBLNIPBL cohesin loading factor | Alati | Esineb 1 haiguses |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Alati | Esineb 1 haiguses |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Alati | Esineb 1 haiguses |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Alati | Esineb 1 haiguses |
| PRMT7protein arginine methyltransferase 7 | Alati | Esineb 1 haiguses |
| PTBP1polypyrimidine tract binding protein 1 | Alati | Esineb 1 haiguses |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Alati | Esineb 1 haiguses |
| SCO2synthesis of cytochrome C oxidase 2 | Alati | Esineb 1 haiguses |
| SLC19A1solute carrier family 19 member 1 | Alati | Esineb 1 haiguses |
| SLC2A1solute carrier family 2 member 1 | Alati | Esineb 1 haiguses |
| SMPD1sphingomyelin phosphodiesterase 1 | Alati | Esineb 1 haiguses |
| SNAPINSNAP associated protein | Alati | Esineb 1 haiguses |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alati | Esineb 1 haiguses |
| TIMM22translocase of inner mitochondrial membrane 22 | Alati | Esineb 1 haiguses |
| TMEM106Btransmembrane protein 106B | Alati | Esineb 1 haiguses |
| TMEM163transmembrane protein 163 | Alati | Esineb 1 haiguses |
| TMEM63Atransmembrane protein 63A | Alati | Esineb 1 haiguses |
| TMEM63Btransmembrane protein 63B | Alati | Esineb 1 haiguses |
| TPRtranslocated promoter region, nuclear basket protein | Alati | Esineb 1 haiguses |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Alati | Esineb 1 haiguses |
| WARS1tryptophanyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Alati | Esineb 1 haiguses |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Väga sageli (80–99%) | Esineb 1 haiguses |
| NRROSnegative regulator of reactive oxygen species | Väga sageli (80–99%) | Esineb 1 haiguses |
| AARS1alanyl-tRNA synthetase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ADARB1adenosine deaminase RNA specific B1 | Sageli (30–79%) | Esineb 1 haiguses |
| AHDC1AT-hook DNA binding motif containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sageli (30–79%) | Esineb 1 haiguses |
| ARF1ARF GTPase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP9AATPase phospholipid transporting 9A | Sageli (30–79%) | Esineb 1 haiguses |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Sageli (30–79%) | Esineb 1 haiguses |
| BRAT1BRCA1 associated ATM activator 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CDK19cyclin dependent kinase 19 | Sageli (30–79%) | Esineb 1 haiguses |
| CLTCL1clathrin heavy chain like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CUL3cullin 3 | Sageli (30–79%) | Esineb 1 haiguses |
| DHX30DExH-box helicase 30 | Sageli (30–79%) | Esineb 1 haiguses |
| DOHHdeoxyhypusine hydroxylase | Sageli (30–79%) | Esineb 1 haiguses |
| ELOVL4ELOVL fatty acid elongase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| EXOC8exocyst complex component 8 | Sageli (30–79%) | Esineb 1 haiguses |
| EXOSC2exosome component 2 | Sageli (30–79%) | Esineb 1 haiguses |
| FAR1fatty acyl-CoA reductase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FCSKfucose kinase | Sageli (30–79%) | Esineb 1 haiguses |
| FZR1fizzy and cell division cycle 20 related 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GEMIN4gem nuclear organelle associated protein 4 | Sageli (30–79%) | Esineb 1 haiguses |
| GLYCTKglycerate kinase | Sageli (30–79%) | Esineb 1 haiguses |
| GNAO1G protein subunit alpha o1 | Sageli (30–79%) | Esineb 2 haiguses |
| IER3IP1immediate early response 3 interacting protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Sageli (30–79%) | Esineb 1 haiguses |
| ITGAVintegrin subunit alpha V | Sageli (30–79%) | Esineb 1 haiguses |
| JKAMPJNK1/MAPK8 associated membrane protein | Sageli (30–79%) | Esineb 1 haiguses |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KDM1Alysine demethylase 1A | Sageli (30–79%) | Esineb 1 haiguses |
| KIDINS220kinase D interacting substrate 220 | Sageli (30–79%) | Esineb 1 haiguses |
| KIF5Akinesin family member 5A | Sageli (30–79%) | Esineb 1 haiguses |
| LIPT2lipoyl(octanoyl) transferase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MADDMAP kinase activating death domain | Sageli (30–79%) | Esineb 2 haiguses |
| MDH2malate dehydrogenase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NACC1nucleus accumbens associated 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NCDNneurochondrin | Sageli (30–79%) | Esineb 1 haiguses |
| NEUROD2neuronal differentiation 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NUP133nucleoporin 133 | Sageli (30–79%) | Esineb 1 haiguses |
| NUP188nucleoporin 188 | Sageli (30–79%) | Esineb 1 haiguses |
| PHACTR1phosphatase and actin regulator 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PIBF1progesterone immunomodulatory binding factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Sageli (30–79%) | Esineb 1 haiguses |
| PKDCCprotein kinase domain containing, cytoplasmic | Sageli (30–79%) | Esineb 1 haiguses |
| PLAAphospholipase A2 activating protein | Sageli (30–79%) | Esineb 1 haiguses |
| POGZpogo transposable element derived with ZNF domain | Sageli (30–79%) | Esineb 2 haiguses |
| POLR2ARNA polymerase II subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | 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 |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RBSNrabenosyn, RAB effector | Sageli (30–79%) | Esineb 1 haiguses |
| RNF13ring finger protein 13 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC1A2solute carrier family 1 member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC1A4solute carrier family 1 member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC35B2solute carrier family 35 member B2 | Sageli (30–79%) | Esineb 1 haiguses |
| STXBP1syntaxin binding protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TAF13TATA-box binding protein associated factor 13 | Sageli (30–79%) | Esineb 1 haiguses |
| TAF2TATA-box binding protein associated factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TBC1D24TBC1 domain family member 24 | Sageli (30–79%) | Esineb 1 haiguses |
| TNRtenascin R | Sageli (30–79%) | Esineb 1 haiguses |
| TRIM8tripartite motif containing 8 | Sageli (30–79%) | Esineb 1 haiguses |
| TRMT5tRNA methyltransferase 5 | Sageli (30–79%) | Esineb 1 haiguses |
| UBA5ubiquitin like modifier activating enzyme 5 | Sageli (30–79%) | Esineb 1 haiguses |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Sageli (30–79%) | Esineb 1 haiguses |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Sageli (30–79%) | Esineb 1 haiguses |
| ZNF526zinc finger protein 526 | Sageli (30–79%) | Esineb 1 haiguses |
| ACTL6Bactin like 6B | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADAT3adenosine deaminase tRNA specific 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AFG2AAAA ATPase AFG2A | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARID1BAT-rich interaction domain 1B | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATXN7L3ataxin 7 like 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Icalcium voltage-gated channel subunit alpha1 I | Mõnikord (5–29%) | Esineb 1 haiguses |
| CARS1cysteinyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDC40cell division cycle 40 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CILK1ciliogenesis associated kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLPBClpB family mitochondrial disaggregase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLTCclathrin heavy chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| CNOT3CCR4-NOT transcription complex subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTNNB1catenin beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DDX6DEAD-box helicase 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHX37DEAH-box helicase 37 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAM177A1family with sequence similarity 177 member A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCBFA complementation group B | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXL4F-box and leucine rich repeat protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO28F-box protein 28 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FDXRferredoxin reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOCADfocadhesin | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXG1forkhead box G1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FRMD5FERM domain containing 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FRMPD4FERM and PDZ domain containing 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| H4C5H4 clustered histone 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HIVEP2HIVEP zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Mõnikord (5–29%) | Esineb 1 haiguses |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM2Blysine demethylase 2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| LGI1leucine rich glioma inactivated 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMX1BLIM homeobox transcription factor 1 beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED16mediator complex subunit 16 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MLYCDmalonyl-CoA decarboxylase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MORC2MORC family CW-type zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MPV17mitochondrial inner membrane protein MPV17 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NARS1asparaginyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Mõnikord (5–29%) | Esineb 1 haiguses |
| NRCAMneuronal cell adhesion molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLPBPpyridoxal phosphate binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLR3BRNA polymerase III subunit B | Mõnikord (5–29%) | Esineb 1 haiguses |
| POU3F3POU class 3 homeobox 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPIL1peptidylprolyl isomerase like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAB11BRAB11B, member RAS oncogene family | Mõnikord (5–29%) | Esineb 1 haiguses |
| RBM8ARNA binding motif protein 8A | Mõnikord (5–29%) | Esineb 1 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFX7regulatory factor X7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RHOBTB2Rho related BTB domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU7-1RNA, U7 small nuclear 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIN3ASIN3 transcription regulator family member A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC35A2solute carrier family 35 member A2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC6A1solute carrier family 6 member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM240transmembrane protein 240 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRA2Btransformer 2 beta homolog | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRNT1tRNA nucleotidyl transferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UNC13Aunc-13 homolog A | Mõnikord (5–29%) | Esineb 1 haiguses |
| UPB1beta-ureidopropionase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| WDR83OSWD repeat domain 83 opposite strand | Mõnikord (5–29%) | Esineb 1 haiguses |
| WWOXWW domain containing oxidoreductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| YME1L1YME1 like 1 ATPase | Mõnikord (5–29%) | Esineb 1 haiguses |
| YY1YY1 transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZFXzinc finger protein X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF148zinc finger protein 148 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRRAPtransformation/transcription domain associated protein | Harva (1–4%) | Esineb 1 haiguses |
| ACY1aminoacylase 1 | Pole registreeritud | Esineb 1 haiguses |
| BMP4bone morphogenetic protein 4 | Pole registreeritud | Esineb 1 haiguses |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| ITPAinosine triphosphatase | Pole registreeritud | Esineb 1 haiguses |
| MMUTmethylmalonyl-CoA mutase | Pole registreeritud | Esineb 1 haiguses |
| PEX7peroxisomal biogenesis factor 7 | Pole registreeritud | Esineb 1 haiguses |
| SLC12A5solute carrier family 12 member 5 | Pole registreeritud | Esineb 1 haiguses |
| SLC16A2solute carrier family 16 member 2 | Pole registreeritud | Esineb 1 haiguses |
| SMG9SMG9 nonsense mediated mRNA decay factor | Pole registreeritud | Esineb 1 haiguses |
| TGFB1transforming growth factor beta 1 | Pole registreeritud | Esineb 1 haiguses |
| TKFCtriokinase and FMN cyclase | Pole registreeritud | Esineb 1 haiguses |
| TMEM147transmembrane protein 147 | Pole registreeritud | Esineb 1 haiguses |
| TNPO2transportin 2 | Pole registreeritud | Esineb 1 haiguses |
| TXN2thioredoxin 2 | Pole registreeritud | Esineb 1 haiguses |
| UGDHUDP-glucose 6-dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| ZC4H2zinc finger C4H2-type containing | Pole registreeritud | Esineb 1 haiguses |
| ZMIZ1zinc finger MIZ-type containing 1 | Pole registreeritud | Esineb 1 haiguses |
| ZNF335zinc finger protein 335 | 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.
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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Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast