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Kenmerk
Jerking
Klinische naam: Myoclonus
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Samenvatting
- Ook bekend als
- Myoclonic jerks
- Lichaamssysteem
- Abnormality of the nervous system
JerkingHP:0001336
Voor wie we er zijnOnze wetenschapProductenResultaten
InloggenVraagAan de slagvanaf $ 449
Read the genes linked to Jerking, and the rest of your genome, with one test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen352 genen gekoppeld aan Jerking
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Jerking voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Altijd | In 1 aandoening |
| ADCY5adenylate cyclase 5 | Altijd | In 4 aandoeningen |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altijd | In 3 aandoeningen |
| AHDC1AT-hook DNA binding motif containing 1 | Altijd | In 1 aandoening |
| APTXaprataxin | Altijd | In 1 aandoening |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Altijd | In 1 aandoening |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Altijd | In 2 aandoeningen |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Altijd | In 1 aandoening |
| CERS1ceramide synthase 1 | Altijd | In 1 aandoening |
| CLN5CLN5 lysosomal BMP synthase | Altijd | In 1 aandoening |
| CLN8CLN8 transmembrane ER and ERGIC protein | Altijd | In 1 aandoening |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Altijd | In 2 aandoeningen |
| CNTN2contactin 2 | Altijd | In 2 aandoeningen |
| COG8component of oligomeric golgi complex 8 | Altijd | In 2 aandoeningen |
| COQ2coenzyme Q2, polyprenyltransferase | Altijd | In 1 aandoening |
| CSTBcystatin B | Altijd | In 2 aandoeningen |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| DNM1Ldynamin 1L | Altijd | In 1 aandoening |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Altijd | In 2 aandoeningen |
| FLVCR1FLVCR choline and heme transporter 1 | Altijd | In 1 aandoening |
| GCSHglycine cleavage system protein H | Altijd | In 1 aandoening |
| GLRBglycine receptor beta | Altijd | In 2 aandoeningen |
| GOSR2golgi SNAP receptor complex member 2 | Altijd | In 1 aandoening |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Altijd | In 3 aandoeningen |
| GTF3C3general transcription factor IIIC subunit 3 | Altijd | In 1 aandoening |
| GTPBP1GTP binding protein 1 | Altijd | In 1 aandoening |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Altijd | In 1 aandoening |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altijd | In 2 aandoeningen |
| JKAMPJNK1/MAPK8 associated membrane protein | Altijd | In 1 aandoening |
| KCNC1potassium voltage-gated channel subfamily C member 1 | Altijd | In 1 aandoening |
| KIF5Akinesin family member 5A | Altijd | In 1 aandoening |
| MAU2MAU2 sister chromatid cohesion factor | Altijd | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Altijd | In 2 aandoeningen |
| MRAPmelanocortin 2 receptor accessory protein | Altijd | In 1 aandoening |
| NFU1NFU1 iron-sulfur cluster scaffold | Altijd | In 1 aandoening |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Altijd | In 2 aandoeningen |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Altijd | In 1 aandoening |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altijd | In 3 aandoeningen |
| POLR1ARNA polymerase I subunit A | Altijd | In 1 aandoening |
Toon nog 312 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| PRNPprion protein (Kanno blood group) | Altijd | In 5 aandoeningen |
| PSAPprosaposin | Altijd | In 5 aandoeningen |
| PTCD3pentatricopeptide repeat domain 3 | Altijd | In 1 aandoening |
| RFT1RFT1 glycolipid translocator homolog | Altijd | In 1 aandoening |
| RNU2-2RNA, U2 small nuclear 2 | Altijd | In 1 aandoening |
| RPS6KC1ribosomal protein S6 kinase C1 | Altijd | In 1 aandoening |
| SCARB2scavenger receptor class B member 2 | Altijd | In 2 aandoeningen |
| SCO2synthesis of cytochrome C oxidase 2 | Altijd | In 1 aandoening |
| SDHDsuccinate dehydrogenase complex subunit D | Altijd | In 1 aandoening |
| SEMA6Bsemaphorin 6B | Altijd | In 1 aandoening |
| SGCEsarcoglycan epsilon | Altijd | In 2 aandoeningen |
| SLC25A10solute carrier family 25 member 10 | Altijd | In 1 aandoening |
| SLC25A12solute carrier family 25 member 12 | Altijd | In 1 aandoening |
| SLC25A19solute carrier family 25 member 19 | Altijd | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Altijd | In 2 aandoeningen |
| SLC7A6OSsolute carrier family 7 member 6 opposite strand | Altijd | In 1 aandoening |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Altijd | In 2 aandoeningen |
| TRAPPC12trafficking protein particle complex subunit 12 | Altijd | In 2 aandoeningen |
| TSEN54tRNA splicing endonuclease subunit 54 | Altijd | In 2 aandoeningen |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Altijd | In 1 aandoening |
| YEATS2YEATS domain containing 2 | Altijd | In 2 aandoeningen |
| ADRA2Badrenoceptor alpha 2B | Heel vaak (80–99%) | In 1 aandoening |
| APPamyloid beta precursor protein | Heel vaak (80–99%) | In 2 aandoeningen |
| ARXaristaless related homeobox | Heel vaak (80–99%) | In 2 aandoeningen |
| ASAH1N-acylsphingosine amidohydrolase 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| ATAD1ATPase family AAA domain containing 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CD4CD4 molecule | Heel vaak (80–99%) | In 1 aandoening |
| CDKL5cyclin dependent kinase like 5 | Heel vaak (80–99%) | In 3 aandoeningen |
| CNPY3canopy FGF signaling regulator 3 | Heel vaak (80–99%) | In 1 aandoening |
| CTNND2catenin delta 2 | Heel vaak (80–99%) | In 1 aandoening |
| DRD2dopamine receptor D2 | Heel vaak (80–99%) | In 1 aandoening |
| GLRA1glycine receptor alpha 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| GPHNgephyrin | Heel vaak (80–99%) | In 2 aandoeningen |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Heel vaak (80–99%) | In 2 aandoeningen |
| GUF1GTP binding elongation factor GUF1 | Heel vaak (80–99%) | In 2 aandoeningen |
| IRF4interferon regulatory factor 4 | Heel vaak (80–99%) | In 1 aandoening |
| KCTD17potassium channel tetramerization domain containing 17 | Heel vaak (80–99%) | In 2 aandoeningen |
| MARCHF6membrane associated ring-CH-type finger 6 | Heel vaak (80–99%) | In 2 aandoeningen |
| NEU1neuraminidase 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| PHACTR1phosphatase and actin regulator 1 | Heel vaak (80–99%) | In 1 aandoening |
| PLCB1phospholipase C beta 1 | Heel vaak (80–99%) | In 1 aandoening |
| PRDM8PR/SET domain 8 | Heel vaak (80–99%) | In 2 aandoeningen |
| PRICKLE1prickle planar cell polarity protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| PSEN1presenilin 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| PSEN2presenilin 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| RAPGEF2Rap guanine nucleotide exchange factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| SAMD12sterile alpha motif domain containing 12 | Heel vaak (80–99%) | In 1 aandoening |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| SIK1salt inducible kinase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC6A5solute carrier family 6 member 5 | Heel vaak (80–99%) | In 2 aandoeningen |
| SORL1sortilin related receptor 1 | Heel vaak (80–99%) | In 1 aandoening |
| STARD7StAR related lipid transfer domain containing 7 | Heel vaak (80–99%) | In 1 aandoening |
| TBC1D24TBC1 domain family member 24 | Heel vaak (80–99%) | In 5 aandoeningen |
| TNRC6Atrinucleotide repeat containing adaptor 6A | Heel vaak (80–99%) | In 1 aandoening |
| TOMM40translocase of outer mitochondrial membrane 40 | Heel vaak (80–99%) | In 1 aandoening |
| TOR1Atorsin family 1 member A | Heel vaak (80–99%) | In 1 aandoening |
| TREM2triggering receptor expressed on myeloid cells 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| WDR45WD repeat domain 45 | Heel vaak (80–99%) | In 1 aandoening |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Vaak (30–79%) | In 1 aandoening |
| APOEapolipoprotein E | Vaak (30–79%) | In 2 aandoeningen |
| ATN1atrophin 1 | Vaak (30–79%) | In 2 aandoeningen |
| ATP13A2ATPase cation transporting 13A2 | Vaak (30–79%) | In 3 aandoeningen |
| BORCS8BLOC-1 related complex subunit 8 | Vaak (30–79%) | In 1 aandoening |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Vaak (30–79%) | In 2 aandoeningen |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Vaak (30–79%) | In 2 aandoeningen |
| CASRcalcium sensing receptor | Vaak (30–79%) | In 1 aandoening |
| CHD2chromodomain helicase DNA binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| CIZ1CDKN1A interacting zinc finger protein 1 | Vaak (30–79%) | In 1 aandoening |
| CLN6CLN6 transmembrane ER protein | Vaak (30–79%) | In 1 aandoening |
| CLPBClpB family mitochondrial disaggregase | Vaak (30–79%) | In 2 aandoeningen |
| COQ5coenzyme Q5, methyltransferase | Vaak (30–79%) | In 1 aandoening |
| COX4I1cytochrome c oxidase subunit 4I1 | Vaak (30–79%) | In 1 aandoening |
| CPLX1complexin 1 | Vaak (30–79%) | In 1 aandoening |
| CRLS1cardiolipin synthase 1 | Vaak (30–79%) | In 1 aandoening |
| CUX2cut like homeobox 2 | Vaak (30–79%) | In 1 aandoening |
| DAB1DAB adaptor protein 1 | Vaak (30–79%) | In 1 aandoening |
| DDCdopa decarboxylase | Vaak (30–79%) | In 1 aandoening |
| DENND5ADENN domain containing 5A | Vaak (30–79%) | In 1 aandoening |
| DNM1dynamin 1 | Vaak (30–79%) | In 3 aandoeningen |
| DOCK7dedicator of cytokinesis 7 | Vaak (30–79%) | In 2 aandoeningen |
| DTYMKdeoxythymidylate kinase | Vaak (30–79%) | In 1 aandoening |
| EFHC1EF-hand domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| FBXO28F-box protein 28 | Vaak (30–79%) | In 2 aandoeningen |
| FBXO7F-box protein 7 | Vaak (30–79%) | In 1 aandoening |
| FZR1fizzy and cell division cycle 20 related 1 | Vaak (30–79%) | In 2 aandoeningen |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Vaak (30–79%) | In 1 aandoening |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Vaak (30–79%) | In 1 aandoening |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Vaak (30–79%) | In 2 aandoeningen |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Vaak (30–79%) | In 2 aandoeningen |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Vaak (30–79%) | In 1 aandoening |
| GTPBP2GTP binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| HEXBhexosaminidase subunit beta | Vaak (30–79%) | In 1 aandoening |
| HTThuntingtin | Vaak (30–79%) | In 2 aandoeningen |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Vaak (30–79%) | In 2 aandoeningen |
| KCTD7potassium channel tetramerization domain containing 7 | Vaak (30–79%) | In 1 aandoening |
| KICS2KICSTOR subunit 2 | Vaak (30–79%) | In 1 aandoening |
| LMNB2lamin B2 | Vaak (30–79%) | In 1 aandoening |
| MAPK10mitogen-activated protein kinase 10 | Vaak (30–79%) | In 1 aandoening |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Vaak (30–79%) | In 1 aandoening |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Vaak (30–79%) | In 1 aandoening |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Vaak (30–79%) | In 1 aandoening |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Vaak (30–79%) | In 1 aandoening |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Vaak (30–79%) | In 1 aandoening |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Vaak (30–79%) | In 1 aandoening |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Vaak (30–79%) | In 1 aandoening |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Vaak (30–79%) | In 2 aandoeningen |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Vaak (30–79%) | In 2 aandoeningen |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Vaak (30–79%) | In 2 aandoeningen |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Vaak (30–79%) | In 1 aandoening |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Vaak (30–79%) | In 2 aandoeningen |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Vaak (30–79%) | In 2 aandoeningen |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Vaak (30–79%) | In 1 aandoening |
| MTPAPmitochondrial poly(A) polymerase | Vaak (30–79%) | In 1 aandoening |
| NAGAalpha-N-acetylgalactosaminidase | Vaak (30–79%) | In 2 aandoeningen |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Vaak (30–79%) | In 1 aandoening |
| PCDH19protocadherin 19 | Vaak (30–79%) | In 1 aandoening |
| PGM3phosphoglucomutase 3 | Vaak (30–79%) | In 2 aandoeningen |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Vaak (30–79%) | In 1 aandoening |
| PLPBPpyridoxal phosphate binding protein | Vaak (30–79%) | In 1 aandoening |
| PNPOpyridoxamine 5'-phosphate oxidase | Vaak (30–79%) | In 2 aandoeningen |
| POLGDNA polymerase gamma, catalytic subunit | Vaak (30–79%) | In 5 aandoeningen |
| PSAT1phosphoserine aminotransferase 1 | Vaak (30–79%) | In 2 aandoeningen |
| SC5Dsterol-C5-desaturase | Vaak (30–79%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Vaak (30–79%) | In 4 aandoeningen |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Vaak (30–79%) | In 2 aandoeningen |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Vaak (30–79%) | In 1 aandoening |
| SLC25A46solute carrier family 25 member 46 | Vaak (30–79%) | In 2 aandoeningen |
| SLC2A3solute carrier family 2 member 3 | Vaak (30–79%) | In 1 aandoening |
| SNCAsynuclein alpha | Vaak (30–79%) | In 2 aandoeningen |
| SOX10SRY-box transcription factor 10 | Vaak (30–79%) | In 1 aandoening |
| STAMBPSTAM binding protein | Vaak (30–79%) | In 1 aandoening |
| TAF1TATA-box binding protein associated factor 1 | Vaak (30–79%) | In 2 aandoeningen |
| THtyrosine hydroxylase | Vaak (30–79%) | In 2 aandoeningen |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| TOE1target of EGR1, exonuclease | Vaak (30–79%) | In 2 aandoeningen |
| TSPOAP1TSPO associated protein 1 | Vaak (30–79%) | In 1 aandoening |
| TSPYL1TSPY like 1 | Vaak (30–79%) | In 1 aandoening |
| TWNKtwinkle mtDNA helicase | Vaak (30–79%) | In 2 aandoeningen |
| VPS13Dvacuolar protein sorting 13 homolog D | Vaak (30–79%) | In 2 aandoeningen |
| VPS53VPS53 subunit of GARP complex | Vaak (30–79%) | In 1 aandoening |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Vaak (30–79%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| ACTL6Bactin like 6B | Soms (5–29%) | In 1 aandoening |
| ADARadenosine deaminase RNA specific | Soms (5–29%) | In 1 aandoening |
| AFF3ALF transcription elongation factor 3 | Soms (5–29%) | In 1 aandoening |
| AKT3AKT serine/threonine kinase 3 | Soms (5–29%) | In 1 aandoening |
| ANO3anoctamin 3 | Soms (5–29%) | In 1 aandoening |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Soms (5–29%) | In 1 aandoening |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Soms (5–29%) | In 1 aandoening |
| ATP6V1AATPase H+ transporting V1 subunit A | Soms (5–29%) | In 1 aandoening |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Soms (5–29%) | In 1 aandoening |
| BOLA3bolA family member 3 | Soms (5–29%) | In 2 aandoeningen |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Soms (5–29%) | In 2 aandoeningen |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Soms (5–29%) | In 1 aandoening |
| CACNB4calcium voltage-gated channel auxiliary subunit beta 4 | Soms (5–29%) | In 2 aandoeningen |
| CASKcalcium/calmodulin dependent serine protein kinase | Soms (5–29%) | In 1 aandoening |
| CDK19cyclin dependent kinase 19 | Soms (5–29%) | In 1 aandoening |
| CELF2CUGBP Elav-like family member 2 | Soms (5–29%) | In 1 aandoening |
| CICcapicua transcriptional repressor | Soms (5–29%) | In 1 aandoening |
| CLCN4Cl-/H+ antiporter 4 | Soms (5–29%) | In 1 aandoening |
| CLTCclathrin heavy chain | Soms (5–29%) | In 2 aandoeningen |
| COQ8Acoenzyme Q8A | Soms (5–29%) | In 2 aandoeningen |
| COXFA4cytochrome c oxidase associated subunit FA4 | Soms (5–29%) | In 1 aandoening |
| CRELD1CRELD disulfide isomerase 1 | Soms (5–29%) | In 1 aandoening |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Soms (5–29%) | In 1 aandoening |
| DALRD3DALR anticodon binding domain containing 3 | Soms (5–29%) | In 1 aandoening |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Soms (5–29%) | In 1 aandoening |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Soms (5–29%) | In 1 aandoening |
| DMXL2Dmx like 2 | Soms (5–29%) | In 1 aandoening |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Soms (5–29%) | In 1 aandoening |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Soms (5–29%) | In 1 aandoening |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Soms (5–29%) | In 1 aandoening |
| EPM2AEPM2A glucan phosphatase, laforin | Soms (5–29%) | In 2 aandoeningen |
| FGF12fibroblast growth factor 12 | Soms (5–29%) | In 1 aandoening |
| FOXG1forkhead box G1 | Soms (5–29%) | In 1 aandoening |
| FRMD5FERM domain containing 5 | Soms (5–29%) | In 1 aandoening |
| FRRS1Lferric chelate reductase 1 like | Soms (5–29%) | In 1 aandoening |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Soms (5–29%) | In 1 aandoening |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Soms (5–29%) | In 1 aandoening |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Soms (5–29%) | In 1 aandoening |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Soms (5–29%) | In 2 aandoeningen |
| GALCgalactosylceramidase | Soms (5–29%) | In 1 aandoening |
| GLRX5glutaredoxin 5 | Soms (5–29%) | In 1 aandoening |
| GLYCTKglycerate kinase | Soms (5–29%) | In 2 aandoeningen |
| GNAO1G protein subunit alpha o1 | Soms (5–29%) | In 1 aandoening |
| GNB1G protein subunit beta 1 | Soms (5–29%) | In 1 aandoening |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Soms (5–29%) | In 1 aandoening |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Soms (5–29%) | In 1 aandoening |
| GRM7glutamate metabotropic receptor 7 | Soms (5–29%) | In 1 aandoening |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Soms (5–29%) | In 1 aandoening |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Soms (5–29%) | In 2 aandoeningen |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Soms (5–29%) | In 1 aandoening |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Soms (5–29%) | In 1 aandoening |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Soms (5–29%) | In 2 aandoeningen |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Soms (5–29%) | In 1 aandoening |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Soms (5–29%) | In 1 aandoening |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Soms (5–29%) | In 2 aandoeningen |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Soms (5–29%) | In 1 aandoening |
| KMT2Blysine methyltransferase 2B | Soms (5–29%) | In 1 aandoening |
| LGI1leucine rich glioma inactivated 1 | Soms (5–29%) | In 1 aandoening |
| LIG3DNA ligase 3 | Soms (5–29%) | In 1 aandoening |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Soms (5–29%) | In 2 aandoeningen |
| MRE11MRE11 double strand break repair nuclease | Soms (5–29%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Soms (5–29%) | In 1 aandoening |
| MTORmechanistic target of rapamycin kinase | Soms (5–29%) | In 1 aandoening |
| NARS1asparaginyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| NAXDNAD(P)HX dehydratase | Soms (5–29%) | In 1 aandoening |
| NAXENAD(P)HX epimerase | Soms (5–29%) | In 1 aandoening |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Soms (5–29%) | In 1 aandoening |
| NECAP1NECAP endocytosis associated 1 | Soms (5–29%) | In 1 aandoening |
| NEUROD2neuronal differentiation 2 | Soms (5–29%) | In 1 aandoening |
| NGLY1N-glycanase 1 | Soms (5–29%) | In 2 aandoeningen |
| NKX2-1NK2 homeobox 1 | Soms (5–29%) | In 1 aandoening |
| NPTX1neuronal pentraxin 1 | Soms (5–29%) | In 1 aandoening |
| NUP54nucleoporin 54 | Soms (5–29%) | In 1 aandoening |
| NUP62nucleoporin 62 | Soms (5–29%) | In 1 aandoening |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Soms (5–29%) | In 1 aandoening |
| OCA2OCA2 melanosomal transmembrane protein | Soms (5–29%) | In 1 aandoening |
| PACS2phosphofurin acidic cluster sorting protein 2 | Soms (5–29%) | In 1 aandoening |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| PET100PET100 cytochrome c oxidase chaperone | Soms (5–29%) | In 1 aandoening |
| PGAP2post-GPI attachment to proteins 2 | Soms (5–29%) | In 1 aandoening |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Soms (5–29%) | In 1 aandoening |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Soms (5–29%) | In 1 aandoening |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Soms (5–29%) | In 1 aandoening |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Soms (5–29%) | In 1 aandoening |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Soms (5–29%) | In 1 aandoening |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Soms (5–29%) | In 1 aandoening |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Soms (5–29%) | In 1 aandoening |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Soms (5–29%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| PLA2G6phospholipase A2 group VI | Soms (5–29%) | In 1 aandoening |
| PNKPpolynucleotide kinase 3'-phosphatase | Soms (5–29%) | In 1 aandoening |
| PODXLpodocalyxin like | Soms (5–29%) | In 1 aandoening |
| POLR1CRNA polymerase I and III subunit C | Soms (5–29%) | In 1 aandoening |
| PPFIA3PPFI scaffold protein A3 | Soms (5–29%) | In 1 aandoening |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| PRKCGprotein kinase C gamma | Soms (5–29%) | In 1 aandoening |
| PTS6-pyruvoyltetrahydropterin synthase | Soms (5–29%) | In 1 aandoening |
| PURApurine rich element binding protein A | Soms (5–29%) | In 2 aandoeningen |
| RBMXRNA binding motif protein X-linked | Soms (5–29%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Soms (5–29%) | In 1 aandoening |
| RMND1required for meiotic nuclear division 1 homolog | Soms (5–29%) | In 1 aandoening |
| SATB1SATB homeobox 1 | Soms (5–29%) | In 1 aandoening |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Soms (5–29%) | In 1 aandoening |
| SLC13A5solute carrier family 13 member 5 | Soms (5–29%) | In 1 aandoening |
| SLC1A2solute carrier family 1 member 2 | Soms (5–29%) | In 1 aandoening |
| SLC25A22solute carrier family 25 member 22 | Soms (5–29%) | In 1 aandoening |
| SLC32A1solute carrier family 32 member 1 | Soms (5–29%) | In 1 aandoening |
| SLC38A3solute carrier family 38 member 3 | Soms (5–29%) | In 1 aandoening |
| SMSspermine synthase | Soms (5–29%) | In 1 aandoening |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Soms (5–29%) | In 1 aandoening |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Soms (5–29%) | In 1 aandoening |
| SYNJ1synaptojanin 1 | Soms (5–29%) | In 2 aandoeningen |
| SZT2SZT2 subunit of KICSTOR complex | Soms (5–29%) | In 1 aandoening |
| TEFMtranscription elongation factor, mitochondrial | Soms (5–29%) | In 1 aandoening |
| THAP1THAP domain containing 1 | Soms (5–29%) | In 1 aandoening |
| THAP11THAP domain containing 11 | Soms (5–29%) | In 1 aandoening |
| TRAK1trafficking kinesin protein 1 | Soms (5–29%) | In 2 aandoeningen |
| TRIM8tripartite motif containing 8 | Soms (5–29%) | In 1 aandoening |
| UBA5ubiquitin like modifier activating enzyme 5 | Soms (5–29%) | In 1 aandoening |
| UBE3Aubiquitin protein ligase E3A | Soms (5–29%) | In 1 aandoening |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Soms (5–29%) | In 1 aandoening |
| UFSP2UFM1 specific peptidase 2 | Soms (5–29%) | In 1 aandoening |
| VPS41VPS41 subunit of HOPS complex | Soms (5–29%) | In 1 aandoening |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Soms (5–29%) | In 1 aandoening |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Zelden (1–4%) | In 1 aandoening |
| ALKALK receptor tyrosine kinase | Zelden (1–4%) | In 1 aandoening |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Zelden (1–4%) | In 1 aandoening |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Zelden (1–4%) | In 1 aandoening |
| LMO1LIM domain only 1 | Zelden (1–4%) | In 1 aandoening |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Zelden (1–4%) | In 1 aandoening |
| PHOX2Bpaired like homeobox 2B | Zelden (1–4%) | In 1 aandoening |
| ADSLadenylosuccinate lyase | Niet vastgelegd | In 1 aandoening |
| ATMATM serine/threonine kinase | Niet vastgelegd | In 1 aandoening |
| ATXN2ataxin 2 | Niet vastgelegd | In 1 aandoening |
| CHMP2Bcharged multivesicular body protein 2B | Niet vastgelegd | In 1 aandoening |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Niet vastgelegd | In 1 aandoening |
| CTSFcathepsin F | Niet vastgelegd | In 1 aandoening |
| DNAJC5DnaJ heat shock protein family (Hsp40) member C5 | Niet vastgelegd | In 1 aandoening |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Niet vastgelegd | In 1 aandoening |
| GAMTguanidinoacetate N-methyltransferase | Niet vastgelegd | In 1 aandoening |
| GBA1glucosylceramidase beta 1 | Niet vastgelegd | In 1 aandoening |
| GLDCglycine decarboxylase | Niet vastgelegd | In 1 aandoening |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Niet vastgelegd | In 1 aandoening |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Niet vastgelegd | In 1 aandoening |
| KCND3potassium voltage-gated channel subfamily D member 3 | Niet vastgelegd | In 1 aandoening |
| KIF1Bkinesin family member 1B | Niet vastgelegd | In 1 aandoening |
| LIASlipoic acid synthetase | Niet vastgelegd | In 1 aandoening |
| MECP2methyl-CpG binding protein 2 | Niet vastgelegd | In 1 aandoening |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Niet vastgelegd | In 1 aandoening |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Niet vastgelegd | In 1 aandoening |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Niet vastgelegd | In 1 aandoening |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Niet vastgelegd | In 1 aandoening |
| NFASCneurofascin | Niet vastgelegd | In 1 aandoening |
| NOL3nucleolar protein 3 | Niet vastgelegd | In 1 aandoening |
| NUP214nucleoporin 214 | Niet vastgelegd | In 1 aandoening |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Niet vastgelegd | In 1 aandoening |
| PPT1palmitoyl-protein thioesterase 1 | Niet vastgelegd | In 1 aandoening |
| QDPRquinoid dihydropteridine reductase | Niet vastgelegd | In 1 aandoening |
| RORBRAR related orphan receptor B | Niet vastgelegd | In 1 aandoening |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Niet vastgelegd | In 1 aandoening |
| SERPINI1serpin family I member 1 | Niet vastgelegd | In 1 aandoening |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Niet vastgelegd | In 1 aandoening |
| TBPTATA-box binding protein | Niet vastgelegd | In 1 aandoening |
| TPP1tripeptidyl peptidase 1 | Niet vastgelegd | In 1 aandoening |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Niet vastgelegd | In 1 aandoening |
| ZNHIT3zinc finger HIT-type containing 3 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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