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Træk
Jerking
Klinisk navn: Myoclonus
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Resumé
- Også kaldet
- Myoclonic jerks
- Kropssystem
- Abnormality of the nervous system
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Denne side som data
Tilføj .json til sidens adresse, eller bed om application/json, for at læse den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/myoclonus.json"
page <- fromJSON(url)
page$trait$nameJerkingHP:0001336
AtlasHvem vi hjælperVores videnskabProdukterResultater
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Læs de gener, der er knyttet til Jerking, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test352 gener knyttet til Jerking
Ændringer i disse gener forårsager sjældne tilstande, hvor Jerking ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Altid | I 1 tilstand |
| ADCY5adenylate cyclase 5 | Altid | I 4 tilstande |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altid | I 3 tilstande |
| AHDC1AT-hook DNA binding motif containing 1 | Altid | I 1 tilstand |
| APTXaprataxin | Altid | I 1 tilstand |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Altid | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Altid | I 2 tilstande |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Altid | I 1 tilstand |
| CERS1ceramide synthase 1 | Altid | I 1 tilstand |
| CLN5CLN5 lysosomal BMP synthase | Altid | I 1 tilstand |
| CLN8CLN8 transmembrane ER and ERGIC protein | Altid | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Altid | I 2 tilstande |
| CNTN2contactin 2 | Altid | I 2 tilstande |
| COG8component of oligomeric golgi complex 8 | Altid | I 2 tilstande |
| COQ2coenzyme Q2, polyprenyltransferase | Altid | I 1 tilstand |
| CSTBcystatin B | Altid | I 2 tilstande |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| DNM1Ldynamin 1L | Altid | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Altid | I 2 tilstande |
| FLVCR1FLVCR choline and heme transporter 1 | Altid | I 1 tilstand |
| GCSHglycine cleavage system protein H | Altid | I 1 tilstand |
| GLRBglycine receptor beta | Altid | I 2 tilstande |
| GOSR2golgi SNAP receptor complex member 2 | Altid | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Altid | I 3 tilstande |
| GTF3C3general transcription factor IIIC subunit 3 | Altid | I 1 tilstand |
| GTPBP1GTP binding protein 1 | Altid | I 1 tilstand |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Altid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altid | I 2 tilstande |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| KCNC1potassium voltage-gated channel subfamily C member 1 | Altid | I 1 tilstand |
| KIF5Akinesin family member 5A | Altid | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Altid | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Altid | I 2 tilstande |
| MRAPmelanocortin 2 receptor accessory protein | Altid | I 1 tilstand |
| NFU1NFU1 iron-sulfur cluster scaffold | Altid | I 1 tilstand |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Altid | I 2 tilstande |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Altid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 3 tilstande |
| POLR1ARNA polymerase I subunit A | Altid | I 1 tilstand |
Vis 312 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| PRNPprion protein (Kanno blood group) | Altid | I 5 tilstande |
| PSAPprosaposin | Altid | I 5 tilstande |
| PTCD3pentatricopeptide repeat domain 3 | Altid | I 1 tilstand |
| RFT1RFT1 glycolipid translocator homolog | Altid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| RPS6KC1ribosomal protein S6 kinase C1 | Altid | I 1 tilstand |
| SCARB2scavenger receptor class B member 2 | Altid | I 2 tilstande |
| SCO2synthesis of cytochrome C oxidase 2 | Altid | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Altid | I 1 tilstand |
| SEMA6Bsemaphorin 6B | Altid | I 1 tilstand |
| SGCEsarcoglycan epsilon | Altid | I 2 tilstande |
| SLC25A10solute carrier family 25 member 10 | Altid | I 1 tilstand |
| SLC25A12solute carrier family 25 member 12 | Altid | I 1 tilstand |
| SLC25A19solute carrier family 25 member 19 | Altid | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Altid | I 2 tilstande |
| SLC7A6OSsolute carrier family 7 member 6 opposite strand | Altid | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Altid | I 2 tilstande |
| TRAPPC12trafficking protein particle complex subunit 12 | Altid | I 2 tilstande |
| TSEN54tRNA splicing endonuclease subunit 54 | Altid | I 2 tilstande |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Altid | I 1 tilstand |
| YEATS2YEATS domain containing 2 | Altid | I 2 tilstande |
| ADRA2Badrenoceptor alpha 2B | Meget ofte (80–99 %) | I 1 tilstand |
| APPamyloid beta precursor protein | Meget ofte (80–99 %) | I 2 tilstande |
| ARXaristaless related homeobox | Meget ofte (80–99 %) | I 2 tilstande |
| ASAH1N-acylsphingosine amidohydrolase 1 | Meget ofte (80–99 %) | I 3 tilstande |
| ATAD1ATPase family AAA domain containing 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CD4CD4 molecule | Meget ofte (80–99 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Meget ofte (80–99 %) | I 3 tilstande |
| CNPY3canopy FGF signaling regulator 3 | Meget ofte (80–99 %) | I 1 tilstand |
| CTNND2catenin delta 2 | Meget ofte (80–99 %) | I 1 tilstand |
| DRD2dopamine receptor D2 | Meget ofte (80–99 %) | I 1 tilstand |
| GLRA1glycine receptor alpha 1 | Meget ofte (80–99 %) | I 2 tilstande |
| GPHNgephyrin | Meget ofte (80–99 %) | I 2 tilstande |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Meget ofte (80–99 %) | I 2 tilstande |
| GUF1GTP binding elongation factor GUF1 | Meget ofte (80–99 %) | I 2 tilstande |
| IRF4interferon regulatory factor 4 | Meget ofte (80–99 %) | I 1 tilstand |
| KCTD17potassium channel tetramerization domain containing 17 | Meget ofte (80–99 %) | I 2 tilstande |
| MARCHF6membrane associated ring-CH-type finger 6 | Meget ofte (80–99 %) | I 2 tilstande |
| NEU1neuraminidase 1 | Meget ofte (80–99 %) | I 4 tilstande |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| PHACTR1phosphatase and actin regulator 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PLCB1phospholipase C beta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PRDM8PR/SET domain 8 | Meget ofte (80–99 %) | I 2 tilstande |
| PRICKLE1prickle planar cell polarity protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PSEN1presenilin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PSEN2presenilin 2 | Meget ofte (80–99 %) | I 2 tilstande |
| RAPGEF2Rap guanine nucleotide exchange factor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SAMD12sterile alpha motif domain containing 12 | Meget ofte (80–99 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Meget ofte (80–99 %) | I 3 tilstande |
| SIK1salt inducible kinase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC6A5solute carrier family 6 member 5 | Meget ofte (80–99 %) | I 2 tilstande |
| SORL1sortilin related receptor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| STARD7StAR related lipid transfer domain containing 7 | Meget ofte (80–99 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Meget ofte (80–99 %) | I 5 tilstande |
| TNRC6Atrinucleotide repeat containing adaptor 6A | Meget ofte (80–99 %) | I 1 tilstand |
| TOMM40translocase of outer mitochondrial membrane 40 | Meget ofte (80–99 %) | I 1 tilstand |
| TOR1Atorsin family 1 member A | Meget ofte (80–99 %) | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Meget ofte (80–99 %) | I 3 tilstande |
| WDR45WD repeat domain 45 | Meget ofte (80–99 %) | I 1 tilstand |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Ofte (30–79 %) | I 1 tilstand |
| APOEapolipoprotein E | Ofte (30–79 %) | I 2 tilstande |
| ATN1atrophin 1 | Ofte (30–79 %) | I 2 tilstande |
| ATP13A2ATPase cation transporting 13A2 | Ofte (30–79 %) | I 3 tilstande |
| BORCS8BLOC-1 related complex subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ofte (30–79 %) | I 2 tilstande |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ofte (30–79 %) | I 2 tilstande |
| CASRcalcium sensing receptor | Ofte (30–79 %) | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| CIZ1CDKN1A interacting zinc finger protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CLN6CLN6 transmembrane ER protein | Ofte (30–79 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Ofte (30–79 %) | I 2 tilstande |
| COQ5coenzyme Q5, methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| COX4I1cytochrome c oxidase subunit 4I1 | Ofte (30–79 %) | I 1 tilstand |
| CPLX1complexin 1 | Ofte (30–79 %) | I 1 tilstand |
| CRLS1cardiolipin synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| CUX2cut like homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| DAB1DAB adaptor protein 1 | Ofte (30–79 %) | I 1 tilstand |
| DDCdopa decarboxylase | Ofte (30–79 %) | I 1 tilstand |
| DENND5ADENN domain containing 5A | Ofte (30–79 %) | I 1 tilstand |
| DNM1dynamin 1 | Ofte (30–79 %) | I 3 tilstande |
| DOCK7dedicator of cytokinesis 7 | Ofte (30–79 %) | I 2 tilstande |
| DTYMKdeoxythymidylate kinase | Ofte (30–79 %) | I 1 tilstand |
| EFHC1EF-hand domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Ofte (30–79 %) | I 2 tilstande |
| FBXO7F-box protein 7 | Ofte (30–79 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Ofte (30–79 %) | I 2 tilstande |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Ofte (30–79 %) | I 1 tilstand |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Ofte (30–79 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Ofte (30–79 %) | I 2 tilstande |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Ofte (30–79 %) | I 2 tilstande |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Ofte (30–79 %) | I 1 tilstand |
| HTThuntingtin | Ofte (30–79 %) | I 2 tilstande |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Ofte (30–79 %) | I 2 tilstande |
| KCTD7potassium channel tetramerization domain containing 7 | Ofte (30–79 %) | I 1 tilstand |
| KICS2KICSTOR subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| LMNB2lamin B2 | Ofte (30–79 %) | I 1 tilstand |
| MAPK10mitogen-activated protein kinase 10 | Ofte (30–79 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Ofte (30–79 %) | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Ofte (30–79 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Ofte (30–79 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Ofte (30–79 %) | I 2 tilstande |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Ofte (30–79 %) | I 2 tilstande |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 2 tilstande |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Ofte (30–79 %) | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Ofte (30–79 %) | I 2 tilstande |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Ofte (30–79 %) | I 2 tilstande |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Ofte (30–79 %) | I 1 tilstand |
| MTPAPmitochondrial poly(A) polymerase | Ofte (30–79 %) | I 1 tilstand |
| NAGAalpha-N-acetylgalactosaminidase | Ofte (30–79 %) | I 2 tilstande |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Ofte (30–79 %) | I 1 tilstand |
| PCDH19protocadherin 19 | Ofte (30–79 %) | I 1 tilstand |
| PGM3phosphoglucomutase 3 | Ofte (30–79 %) | I 2 tilstande |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Ofte (30–79 %) | I 1 tilstand |
| PLPBPpyridoxal phosphate binding protein | Ofte (30–79 %) | I 1 tilstand |
| PNPOpyridoxamine 5'-phosphate oxidase | Ofte (30–79 %) | I 2 tilstande |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 5 tilstande |
| PSAT1phosphoserine aminotransferase 1 | Ofte (30–79 %) | I 2 tilstande |
| SC5Dsterol-C5-desaturase | Ofte (30–79 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ofte (30–79 %) | I 4 tilstande |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Ofte (30–79 %) | I 2 tilstande |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Ofte (30–79 %) | I 2 tilstande |
| SLC2A3solute carrier family 2 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SNCAsynuclein alpha | Ofte (30–79 %) | I 2 tilstande |
| SOX10SRY-box transcription factor 10 | Ofte (30–79 %) | I 1 tilstand |
| STAMBPSTAM binding protein | Ofte (30–79 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Ofte (30–79 %) | I 2 tilstande |
| THtyrosine hydroxylase | Ofte (30–79 %) | I 2 tilstande |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Ofte (30–79 %) | I 2 tilstande |
| TSPOAP1TSPO associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TSPYL1TSPY like 1 | Ofte (30–79 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Ofte (30–79 %) | I 2 tilstande |
| VPS13Dvacuolar protein sorting 13 homolog D | Ofte (30–79 %) | I 2 tilstande |
| VPS53VPS53 subunit of GARP complex | Ofte (30–79 %) | I 1 tilstand |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ACTL6Bactin like 6B | Nogle gange (5–29 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Nogle gange (5–29 %) | I 1 tilstand |
| AFF3ALF transcription elongation factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| AKT3AKT serine/threonine kinase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ANO3anoctamin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Nogle gange (5–29 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Nogle gange (5–29 %) | I 1 tilstand |
| BOLA3bolA family member 3 | Nogle gange (5–29 %) | I 2 tilstande |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Nogle gange (5–29 %) | I 2 tilstande |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CACNB4calcium voltage-gated channel auxiliary subunit beta 4 | Nogle gange (5–29 %) | I 2 tilstande |
| CASKcalcium/calmodulin dependent serine protein kinase | Nogle gange (5–29 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Nogle gange (5–29 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CICcapicua transcriptional repressor | Nogle gange (5–29 %) | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Nogle gange (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Nogle gange (5–29 %) | I 2 tilstande |
| COQ8Acoenzyme Q8A | Nogle gange (5–29 %) | I 2 tilstande |
| COXFA4cytochrome c oxidase associated subunit FA4 | Nogle gange (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| DMXL2Dmx like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Nogle gange (5–29 %) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| EPM2AEPM2A glucan phosphatase, laforin | Nogle gange (5–29 %) | I 2 tilstande |
| FGF12fibroblast growth factor 12 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Nogle gange (5–29 %) | I 1 tilstand |
| FRMD5FERM domain containing 5 | Nogle gange (5–29 %) | I 1 tilstand |
| FRRS1Lferric chelate reductase 1 like | Nogle gange (5–29 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Nogle gange (5–29 %) | I 2 tilstande |
| GALCgalactosylceramidase | Nogle gange (5–29 %) | I 1 tilstand |
| GLRX5glutaredoxin 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GLYCTKglycerate kinase | Nogle gange (5–29 %) | I 2 tilstande |
| GNAO1G protein subunit alpha o1 | Nogle gange (5–29 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Nogle gange (5–29 %) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Nogle gange (5–29 %) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Nogle gange (5–29 %) | I 2 tilstande |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Nogle gange (5–29 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Nogle gange (5–29 %) | I 2 tilstande |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Nogle gange (5–29 %) | I 2 tilstande |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LIG3DNA ligase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Nogle gange (5–29 %) | I 2 tilstande |
| MRE11MRE11 double strand break repair nuclease | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Nogle gange (5–29 %) | I 1 tilstand |
| NARS1asparaginyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NAXDNAD(P)HX dehydratase | Nogle gange (5–29 %) | I 1 tilstand |
| NAXENAD(P)HX epimerase | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| NKX2-1NK2 homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NPTX1neuronal pentraxin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NUP54nucleoporin 54 | Nogle gange (5–29 %) | I 1 tilstand |
| NUP62nucleoporin 62 | Nogle gange (5–29 %) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Nogle gange (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| PET100PET100 cytochrome c oxidase chaperone | Nogle gange (5–29 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Nogle gange (5–29 %) | I 1 tilstand |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Nogle gange (5–29 %) | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Nogle gange (5–29 %) | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Nogle gange (5–29 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Nogle gange (5–29 %) | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Nogle gange (5–29 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Nogle gange (5–29 %) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Nogle gange (5–29 %) | I 1 tilstand |
| PODXLpodocalyxin like | Nogle gange (5–29 %) | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Nogle gange (5–29 %) | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Nogle gange (5–29 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PRKCGprotein kinase C gamma | Nogle gange (5–29 %) | I 1 tilstand |
| PTS6-pyruvoyltetrahydropterin synthase | Nogle gange (5–29 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Nogle gange (5–29 %) | I 2 tilstande |
| RBMXRNA binding motif protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RMND1required for meiotic nuclear division 1 homolog | Nogle gange (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SMSspermine synthase | Nogle gange (5–29 %) | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SZT2SZT2 subunit of KICSTOR complex | Nogle gange (5–29 %) | I 1 tilstand |
| TEFMtranscription elongation factor, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| THAP1THAP domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| THAP11THAP domain containing 11 | Nogle gange (5–29 %) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TRIM8tripartite motif containing 8 | Nogle gange (5–29 %) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Nogle gange (5–29 %) | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Nogle gange (5–29 %) | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Nogle gange (5–29 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| VPS41VPS41 subunit of HOPS complex | Nogle gange (5–29 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Nogle gange (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjældent (1–4%) | I 1 tilstand |
| ALKALK receptor tyrosine kinase | Sjældent (1–4%) | I 1 tilstand |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Sjældent (1–4%) | I 1 tilstand |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Sjældent (1–4%) | I 1 tilstand |
| LMO1LIM domain only 1 | Sjældent (1–4%) | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Sjældent (1–4%) | I 1 tilstand |
| PHOX2Bpaired like homeobox 2B | Sjældent (1–4%) | I 1 tilstand |
| ADSLadenylosuccinate lyase | Ikke registreret | I 1 tilstand |
| ATMATM serine/threonine kinase | Ikke registreret | I 1 tilstand |
| ATXN2ataxin 2 | Ikke registreret | I 1 tilstand |
| CHMP2Bcharged multivesicular body protein 2B | Ikke registreret | I 1 tilstand |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Ikke registreret | I 1 tilstand |
| CTSFcathepsin F | Ikke registreret | I 1 tilstand |
| DNAJC5DnaJ heat shock protein family (Hsp40) member C5 | Ikke registreret | I 1 tilstand |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Ikke registreret | I 1 tilstand |
| GAMTguanidinoacetate N-methyltransferase | Ikke registreret | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ikke registreret | I 1 tilstand |
| GLDCglycine decarboxylase | Ikke registreret | I 1 tilstand |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Ikke registreret | I 1 tilstand |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Ikke registreret | I 1 tilstand |
| KCND3potassium voltage-gated channel subfamily D member 3 | Ikke registreret | I 1 tilstand |
| KIF1Bkinesin family member 1B | Ikke registreret | I 1 tilstand |
| LIASlipoic acid synthetase | Ikke registreret | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ikke registreret | I 1 tilstand |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Ikke registreret | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Ikke registreret | I 1 tilstand |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Ikke registreret | I 1 tilstand |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Ikke registreret | I 1 tilstand |
| NFASCneurofascin | Ikke registreret | I 1 tilstand |
| NOL3nucleolar protein 3 | Ikke registreret | I 1 tilstand |
| NUP214nucleoporin 214 | Ikke registreret | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ikke registreret | I 1 tilstand |
| PPT1palmitoyl-protein thioesterase 1 | Ikke registreret | I 1 tilstand |
| QDPRquinoid dihydropteridine reductase | Ikke registreret | I 1 tilstand |
| RORBRAR related orphan receptor B | Ikke registreret | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ikke registreret | I 1 tilstand |
| SERPINI1serpin family I member 1 | Ikke registreret | I 1 tilstand |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Ikke registreret | I 1 tilstand |
| TBPTATA-box binding protein | Ikke registreret | I 1 tilstand |
| TPP1tripeptidyl peptidase 1 | Ikke registreret | I 1 tilstand |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Ikke registreret | I 1 tilstand |
| ZNHIT3zinc finger HIT-type containing 3 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.17-8666dff2.
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