Piirre
Severe global developmental delay
A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
Yhteenveto
- Tunnetaan myös nimellä
- Global developmental delay, severe
- Elimistön järjestelmä
- Abnormality of the nervous system
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to Severe global developmental delay, and the rest of your genome, with one test.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test271 geeniä, jotka liittyvät piirteeseen Severe global developmental delay
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Severe global developmental delay esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ACO2aconitase 2 | Aina | 1 sairaudessa |
| ACTL6Bactin like 6B | Aina | 2 sairaudessa |
| ADARadenosine deaminase RNA specific | Aina | 1 sairaudessa |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Aina | 2 sairaudessa |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Aina | 1 sairaudessa |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Aina | 1 sairaudessa |
| ARXaristaless related homeobox | Aina | 3 sairaudessa |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Aina | 1 sairaudessa |
| ASXL3ASXL transcriptional regulator 3 | Aina | 1 sairaudessa |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Aina | 1 sairaudessa |
| ATXN7L3ataxin 7 like 3 | Aina | 1 sairaudessa |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Aina | 1 sairaudessa |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Aina | 1 sairaudessa |
| C18orf32chromosome 18 open reading frame 32 | Aina | 1 sairaudessa |
| CCDC47coiled-coil domain containing 47 | Aina | 1 sairaudessa |
| CCT3chaperonin containing TCP1 subunit 3 | Aina | 1 sairaudessa |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Aina | 1 sairaudessa |
| CHKAcholine kinase alpha | Aina | 1 sairaudessa |
| COPB2coat protein complex I subunit beta 2 | Aina | 1 sairaudessa |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Aina | 1 sairaudessa |
| CTNNA2catenin alpha 2 | Aina | 1 sairaudessa |
| DALRD3DALR anticodon binding domain containing 3 | Aina | 1 sairaudessa |
| DENND5ADENN domain containing 5A | Aina | 1 sairaudessa |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Aina | 1 sairaudessa |
| DHRSXdehydrogenase/reductase X-linked | Aina | 1 sairaudessa |
| DNM1dynamin 1 | Aina | 1 sairaudessa |
| DPYSL5dihydropyrimidinase like 5 | Aina | 1 sairaudessa |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Aina | 1 sairaudessa |
| EIF4A2eukaryotic translation initiation factor 4A2 | Aina | 1 sairaudessa |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Aina | 1 sairaudessa |
| ESAMendothelial cell adhesion molecule | Aina | 1 sairaudessa |
| EXOC3L2exocyst complex component 3 like 2 | Aina | 1 sairaudessa |
| EXOC8exocyst complex component 8 | Aina | 1 sairaudessa |
| FIG4FIG4 phosphoinositide 5-phosphatase | Aina | 1 sairaudessa |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Aina | 1 sairaudessa |
| FUT8fucosyltransferase 8 | Aina | 1 sairaudessa |
| FZR1fizzy and cell division cycle 20 related 1 | Aina | 1 sairaudessa |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Aina | 1 sairaudessa |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Aina | 1 sairaudessa |
| GAMTguanidinoacetate N-methyltransferase | Aina | 2 sairaudessa |
Näytä 231 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| GEMIN4gem nuclear organelle associated protein 4 | Aina | 1 sairaudessa |
| GLI2GLI family zinc finger 2 | Aina | 2 sairaudessa |
| GLULglutamate-ammonia ligase | Aina | 1 sairaudessa |
| GPHNgephyrin | Aina | 1 sairaudessa |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Aina | 2 sairaudessa |
| GRM1glutamate metabotropic receptor 1 | Aina | 1 sairaudessa |
| GRM7glutamate metabotropic receptor 7 | Aina | 1 sairaudessa |
| GSX2GS homeobox 2 | Aina | 1 sairaudessa |
| IFT56intraflagellar transport 56 | Aina | 1 sairaudessa |
| INTS1integrator complex subunit 1 | Aina | 1 sairaudessa |
| INTS11integrator complex subunit 11 | Aina | 1 sairaudessa |
| JAG1jagged canonical Notch ligand 1 | Aina | 1 sairaudessa |
| JKAMPJNK1/MAPK8 associated membrane protein | Aina | 1 sairaudessa |
| KARS1lysyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Aina | 1 sairaudessa |
| KMT2Blysine methyltransferase 2B | Aina | 1 sairaudessa |
| KRASKRas proto-oncogene, GTPase | Aina | 1 sairaudessa |
| LGI1leucine rich glioma inactivated 1 | Aina | 1 sairaudessa |
| LRRC7leucine rich repeat containing 7 | Aina | 1 sairaudessa |
| LSM11LSM11, U7 small nuclear RNA associated | Aina | 1 sairaudessa |
| MADDMAP kinase activating death domain | Aina | 2 sairaudessa |
| MAP2K1mitogen-activated protein kinase kinase 1 | Aina | 1 sairaudessa |
| MAP2K2mitogen-activated protein kinase kinase 2 | Aina | 1 sairaudessa |
| MAPKAPK5MAPK activated protein kinase 5 | Aina | 1 sairaudessa |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Aina | 1 sairaudessa |
| MECP2methyl-CpG binding protein 2 | Aina | 4 sairaudessa |
| MED16mediator complex subunit 16 | Aina | 1 sairaudessa |
| MEIS2Meis homeobox 2 | Aina | 1 sairaudessa |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Aina | 1 sairaudessa |
| MN1MN1 proto-oncogene, transcriptional regulator | Aina | 1 sairaudessa |
| MOCS3molybdenum cofactor synthesis 3 | Aina | 1 sairaudessa |
| MPDU1mannose-P-dolichol utilization defect 1 | Aina | 1 sairaudessa |
| MRAPmelanocortin 2 receptor accessory protein | Aina | 1 sairaudessa |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Aina | 1 sairaudessa |
| NINninein | Aina | 1 sairaudessa |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Aina | 1 sairaudessa |
| PGBD5piggyBac transposable element derived 5 | Aina | 1 sairaudessa |
| PHACTR1phosphatase and actin regulator 1 | Aina | 1 sairaudessa |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Aina | 1 sairaudessa |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Aina | 1 sairaudessa |
| POMKprotein O-mannose kinase | Aina | 1 sairaudessa |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Aina | 1 sairaudessa |
| PRMT7protein arginine methyltransferase 7 | Aina | 1 sairaudessa |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Aina | 1 sairaudessa |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Aina | 2 sairaudessa |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Aina | 1 sairaudessa |
| RBL2RB transcriptional corepressor like 2 | Aina | 1 sairaudessa |
| RNF2ring finger protein 2 | Aina | 1 sairaudessa |
| RNU2-2RNA, U2 small nuclear 2 | Aina | 1 sairaudessa |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Aina | 1 sairaudessa |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Aina | 1 sairaudessa |
| SLC25A46solute carrier family 25 member 46 | Aina | 1 sairaudessa |
| SLC30A9solute carrier family 30 member 9 | Aina | 1 sairaudessa |
| SLC33A1solute carrier family 33 member 1 | Aina | 1 sairaudessa |
| SMC1Astructural maintenance of chromosomes 1A | Aina | 2 sairaudessa |
| SNIP1Smad nuclear interacting protein 1 | Aina | 1 sairaudessa |
| SPTBN4spectrin beta, non-erythrocytic 4 | Aina | 1 sairaudessa |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Aina | 1 sairaudessa |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Aina | 1 sairaudessa |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Aina | 1 sairaudessa |
| TAF8TATA-box binding protein associated factor 8 | Aina | 1 sairaudessa |
| TM2D3TM2 domain containing 3 | Aina | 1 sairaudessa |
| TMEM63Btransmembrane protein 63B | Aina | 1 sairaudessa |
| TRA2Btransformer 2 beta homolog | Aina | 1 sairaudessa |
| TRAPPC12trafficking protein particle complex subunit 12 | Aina | 2 sairaudessa |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Aina | 1 sairaudessa |
| TRIM8tripartite motif containing 8 | Aina | 1 sairaudessa |
| TUBB2Atubulin beta 2A class IIa | Aina | 1 sairaudessa |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Aina | 1 sairaudessa |
| UGP2UDP-glucose pyrophosphorylase 2 | Aina | 1 sairaudessa |
| VPS35LVPS35 endosomal protein sorting factor like | Aina | 1 sairaudessa |
| VPS4Avacuolar protein sorting 4 homolog A | Aina | 1 sairaudessa |
| VPS50VPS50 subunit of EARP/GARPII complex | Aina | 1 sairaudessa |
| VPS51VPS51 subunit of GARP complex | Aina | 1 sairaudessa |
| VPS53VPS53 subunit of GARP complex | Aina | 1 sairaudessa |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Aina | 1 sairaudessa |
| ZNF335zinc finger protein 335 | Aina | 1 sairaudessa |
| ZPR1ZPR1 zinc finger | Aina | 1 sairaudessa |
| ABAT4-aminobutyrate aminotransferase | Hyvin usein (80–99%) | 1 sairaudessa |
| ADSLadenylosuccinate lyase | Hyvin usein (80–99%) | 2 sairaudessa |
| CASKcalcium/calmodulin dependent serine protein kinase | Hyvin usein (80–99%) | 1 sairaudessa |
| CTNND2catenin delta 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| DEAF1DEAF1 transcription factor | Hyvin usein (80–99%) | 1 sairaudessa |
| DOT1LDOT1 like histone lysine methyltransferase | Hyvin usein (80–99%) | 1 sairaudessa |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Hyvin usein (80–99%) | 1 sairaudessa |
| EMG1EMG1 N1-specific pseudouridine methyltransferase | Hyvin usein (80–99%) | 1 sairaudessa |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| ERCC5ERCC excision repair 5, endonuclease | Hyvin usein (80–99%) | 1 sairaudessa |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Hyvin usein (80–99%) | 1 sairaudessa |
| FGFR3fibroblast growth factor receptor 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| MED25mediator complex subunit 25 | Hyvin usein (80–99%) | 1 sairaudessa |
| NEXMIFneurite extension and migration factor | Hyvin usein (80–99%) | 1 sairaudessa |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX1peroxisomal biogenesis factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX10peroxisomal biogenesis factor 10 | Hyvin usein (80–99%) | 2 sairaudessa |
| PEX11Bperoxisomal biogenesis factor 11 beta | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX12peroxisomal biogenesis factor 12 | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX13peroxisomal biogenesis factor 13 | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX14peroxisomal biogenesis factor 14 | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX16peroxisomal biogenesis factor 16 | Hyvin usein (80–99%) | 2 sairaudessa |
| PEX19peroxisomal biogenesis factor 19 | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX2peroxisomal biogenesis factor 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX26peroxisomal biogenesis factor 26 | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX3peroxisomal biogenesis factor 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| PEX5peroxisomal biogenesis factor 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX6peroxisomal biogenesis factor 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Hyvin usein (80–99%) | 1 sairaudessa |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Hyvin usein (80–99%) | 2 sairaudessa |
| PRIM1DNA primase subunit 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| PYCR2pyrroline-5-carboxylate reductase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| RPS6KA3ribosomal protein S6 kinase A3 | Hyvin usein (80–99%) | 1 sairaudessa |
| SEMA5Asemaphorin 5A | Hyvin usein (80–99%) | 1 sairaudessa |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC25A19solute carrier family 25 member 19 | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC9A6solute carrier family 9 member A6 | Hyvin usein (80–99%) | 1 sairaudessa |
| SNX14sorting nexin 14 | Hyvin usein (80–99%) | 1 sairaudessa |
| SYT1synaptotagmin 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TBR1T-box brain transcription factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TELO2telomere maintenance 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| TSEN15tRNA splicing endonuclease subunit 15 | Hyvin usein (80–99%) | 1 sairaudessa |
| TSEN2tRNA splicing endonuclease subunit 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| TSEN34tRNA splicing endonuclease subunit 34 | Hyvin usein (80–99%) | 1 sairaudessa |
| TSEN54tRNA splicing endonuclease subunit 54 | Hyvin usein (80–99%) | 3 sairaudessa |
| TUBA8tubulin alpha 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| TXN2thioredoxin 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| ADKadenosine kinase | Usein (30–79%) | 1 sairaudessa |
| ADNPactivity dependent neuroprotector homeobox | Usein (30–79%) | 1 sairaudessa |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Usein (30–79%) | 1 sairaudessa |
| CACNA1Icalcium voltage-gated channel subunit alpha1 I | Usein (30–79%) | 1 sairaudessa |
| CDKL5cyclin dependent kinase like 5 | Usein (30–79%) | 2 sairaudessa |
| CLTCL1clathrin heavy chain like 1 | Usein (30–79%) | 1 sairaudessa |
| COG8component of oligomeric golgi complex 8 | Usein (30–79%) | 1 sairaudessa |
| DAG1dystroglycan 1 | Usein (30–79%) | 1 sairaudessa |
| DOCK6dedicator of cytokinesis 6 | Usein (30–79%) | 1 sairaudessa |
| ECHS1enoyl-CoA hydratase, short chain 1 | Usein (30–79%) | 1 sairaudessa |
| EXOC2exocyst complex component 2 | Usein (30–79%) | 1 sairaudessa |
| FGF13fibroblast growth factor 13 | Usein (30–79%) | 1 sairaudessa |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Usein (30–79%) | 1 sairaudessa |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Usein (30–79%) | 1 sairaudessa |
| GTPBP1GTP binding protein 1 | Usein (30–79%) | 1 sairaudessa |
| GTPBP2GTP binding protein 2 | Usein (30–79%) | 1 sairaudessa |
| INSRinsulin receptor | Usein (30–79%) | 1 sairaudessa |
| KATNB1katanin regulatory subunit B1 | Usein (30–79%) | 1 sairaudessa |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Usein (30–79%) | 1 sairaudessa |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Usein (30–79%) | 1 sairaudessa |
| KDM5Blysine demethylase 5B | Usein (30–79%) | 1 sairaudessa |
| KIF15kinesin family member 15 | Usein (30–79%) | 1 sairaudessa |
| LAMB1laminin subunit beta 1 | Usein (30–79%) | 2 sairaudessa |
| MAB21L1mab-21 like 1 | Usein (30–79%) | 1 sairaudessa |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Usein (30–79%) | 1 sairaudessa |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Usein (30–79%) | 1 sairaudessa |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Usein (30–79%) | 1 sairaudessa |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Usein (30–79%) | 1 sairaudessa |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Usein (30–79%) | 1 sairaudessa |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Usein (30–79%) | 1 sairaudessa |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Usein (30–79%) | 1 sairaudessa |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Usein (30–79%) | 1 sairaudessa |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Usein (30–79%) | 1 sairaudessa |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Usein (30–79%) | 1 sairaudessa |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Usein (30–79%) | 1 sairaudessa |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Usein (30–79%) | 1 sairaudessa |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Usein (30–79%) | 1 sairaudessa |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Usein (30–79%) | 1 sairaudessa |
| NDE1nudE neurodevelopment protein 1 | Usein (30–79%) | 1 sairaudessa |
| NTNG1netrin G1 | Usein (30–79%) | 1 sairaudessa |
| PHGDHphosphoglycerate dehydrogenase | Usein (30–79%) | 1 sairaudessa |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Usein (30–79%) | 1 sairaudessa |
| PSMC3proteasome 26S subunit, ATPase 3 | Usein (30–79%) | 1 sairaudessa |
| PURApurine rich element binding protein A | Usein (30–79%) | 1 sairaudessa |
| RELNreelin | Usein (30–79%) | 1 sairaudessa |
| RNU4-2RNA, U4 small nuclear 2 | Usein (30–79%) | 1 sairaudessa |
| RNU5B-1RNA, U5B small nuclear 1 | Usein (30–79%) | 1 sairaudessa |
| RTTNrotatin | Usein (30–79%) | 1 sairaudessa |
| SATB2SATB homeobox 2 | Usein (30–79%) | 1 sairaudessa |
| TBCKTBC1 domain containing kinase | Usein (30–79%) | 1 sairaudessa |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Usein (30–79%) | 1 sairaudessa |
| TUBB3tubulin beta 3 class III | Usein (30–79%) | 1 sairaudessa |
| WDR26WD repeat domain 26 | Usein (30–79%) | 1 sairaudessa |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Joskus (5–29%) | 1 sairaudessa |
| CYB5Acytochrome b5 type A | Joskus (5–29%) | 1 sairaudessa |
| CYB5R3cytochrome b5 reductase 3 | Joskus (5–29%) | 1 sairaudessa |
| DHRS3dehydrogenase/reductase 3 | Joskus (5–29%) | 1 sairaudessa |
| DLK1delta like non-canonical Notch ligand 1 | Joskus (5–29%) | 1 sairaudessa |
| DPYDdihydropyrimidine dehydrogenase | Joskus (5–29%) | 1 sairaudessa |
| EXTL3exostosin like glycosyltransferase 3 | Joskus (5–29%) | 1 sairaudessa |
| FOXP2forkhead box P2 | Joskus (5–29%) | 1 sairaudessa |
| GLYCTKglycerate kinase | Joskus (5–29%) | 1 sairaudessa |
| H4C5H4 clustered histone 5 | Joskus (5–29%) | 1 sairaudessa |
| KCNK3potassium two pore domain channel subfamily K member 3 | Joskus (5–29%) | 1 sairaudessa |
| KDM2Blysine demethylase 2B | Joskus (5–29%) | 1 sairaudessa |
| MEG3maternally expressed 3 | Joskus (5–29%) | 1 sairaudessa |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| NKX6-2NK6 homeobox 2 | Joskus (5–29%) | 1 sairaudessa |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Joskus (5–29%) | 1 sairaudessa |
| POLRMTRNA polymerase mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| PRORPprotein only RNase P catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Joskus (5–29%) | 1 sairaudessa |
| RNASET2ribonuclease T2 | Joskus (5–29%) | 1 sairaudessa |
| RTL1retrotransposon Gag like 1 | Joskus (5–29%) | 1 sairaudessa |
| STRADASTE20 related adaptor alpha | Joskus (5–29%) | 1 sairaudessa |
| TANGO2transport and golgi organization 2 homolog | Joskus (5–29%) | 1 sairaudessa |
| TBL1XR1TBL1X/Y related 1 | Joskus (5–29%) | 1 sairaudessa |
| WDR62WD repeat domain 62 | Joskus (5–29%) | 1 sairaudessa |
| YY1YY1 transcription factor | Joskus (5–29%) | 1 sairaudessa |
| ABCC6ATP binding cassette subfamily C member 6 | Harvinainen (1–4 %) | 1 sairaudessa |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| FOXA2forkhead box A2 | Harvinainen (1–4 %) | 1 sairaudessa |
| HESX1HESX homeobox 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| LHX4LIM homeobox 4 | Harvinainen (1–4 %) | 1 sairaudessa |
| OTX2orthodenticle homeobox 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| POU1F1POU class 1 homeobox 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| PROP1PROP paired-like homeobox 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| ACOX1acyl-CoA oxidase 1 | Ei kirjattu | 1 sairaudessa |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ei kirjattu | 1 sairaudessa |
| DEGS1delta 4-desaturase, sphingolipid 1 | Ei kirjattu | 1 sairaudessa |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Ei kirjattu | 1 sairaudessa |
| DYMdymeclin | Ei kirjattu | 1 sairaudessa |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Ei kirjattu | 1 sairaudessa |
| FBXL4F-box and leucine rich repeat protein 4 | Ei kirjattu | 1 sairaudessa |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ei kirjattu | 1 sairaudessa |
| PLCB3phospholipase C beta 3 | Ei kirjattu | 1 sairaudessa |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ei kirjattu | 1 sairaudessa |
| RNASEH2Aribonuclease H2 subunit A | Ei kirjattu | 1 sairaudessa |
| RNASEH2Cribonuclease H2 subunit C | Ei kirjattu | 1 sairaudessa |
| SLC16A2solute carrier family 16 member 2 | Ei kirjattu | 1 sairaudessa |
| STAMBPSTAM binding protein | Ei kirjattu | 1 sairaudessa |
| STXBP1syntaxin binding protein 1 | Ei kirjattu | 1 sairaudessa |
| UGDHUDP-glucose 6-dehydrogenase | Ei kirjattu | 1 sairaudessa |
| UNC80unc-80 subunit of NALCN channel complex | Ei kirjattu | 1 sairaudessa |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
Yksi testi. Vastauksia koko elämäksi.
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