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Egenskap
Jerking
Klinisk navn: Myoclonus
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Sammendrag
- Også kalt
- Myoclonic jerks
- Kroppssystem
- Abnormality of the nervous system
JerkingHP:0001336
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Read the genes linked to Jerking, and the rest of your genome, with one test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test352 gener knyttet til Jerking
Endringer i disse genene forårsaker sjeldne tilstander der Jerking forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Alltid | I 1 tilstand |
| ADCY5adenylate cyclase 5 | Alltid | I 4 tilstander |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Alltid | I 3 tilstander |
| AHDC1AT-hook DNA binding motif containing 1 | Alltid | I 1 tilstand |
| APTXaprataxin | Alltid | I 1 tilstand |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Alltid | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Alltid | I 2 tilstander |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Alltid | I 1 tilstand |
| CERS1ceramide synthase 1 | Alltid | I 1 tilstand |
| CLN5CLN5 lysosomal BMP synthase | Alltid | I 1 tilstand |
| CLN8CLN8 transmembrane ER and ERGIC protein | Alltid | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Alltid | I 2 tilstander |
| CNTN2contactin 2 | Alltid | I 2 tilstander |
| COG8component of oligomeric golgi complex 8 | Alltid | I 2 tilstander |
| COQ2coenzyme Q2, polyprenyltransferase | Alltid | I 1 tilstand |
| CSTBcystatin B | Alltid | I 2 tilstander |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| DNM1Ldynamin 1L | Alltid | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Alltid | I 2 tilstander |
| FLVCR1FLVCR choline and heme transporter 1 | Alltid | I 1 tilstand |
| GCSHglycine cleavage system protein H | Alltid | I 1 tilstand |
| GLRBglycine receptor beta | Alltid | I 2 tilstander |
| GOSR2golgi SNAP receptor complex member 2 | Alltid | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Alltid | I 3 tilstander |
| GTF3C3general transcription factor IIIC subunit 3 | Alltid | I 1 tilstand |
| GTPBP1GTP binding protein 1 | Alltid | I 1 tilstand |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Alltid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alltid | I 2 tilstander |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KCNC1potassium voltage-gated channel subfamily C member 1 | Alltid | I 1 tilstand |
| KIF5Akinesin family member 5A | Alltid | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Alltid | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Alltid | I 2 tilstander |
| MRAPmelanocortin 2 receptor accessory protein | Alltid | I 1 tilstand |
| NFU1NFU1 iron-sulfur cluster scaffold | Alltid | I 1 tilstand |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Alltid | I 2 tilstander |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Alltid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alltid | I 3 tilstander |
| POLR1ARNA polymerase I subunit A | Alltid | I 1 tilstand |
Vis 312 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| PRNPprion protein (Kanno blood group) | Alltid | I 5 tilstander |
| PSAPprosaposin | Alltid | I 5 tilstander |
| PTCD3pentatricopeptide repeat domain 3 | Alltid | I 1 tilstand |
| RFT1RFT1 glycolipid translocator homolog | Alltid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| RPS6KC1ribosomal protein S6 kinase C1 | Alltid | I 1 tilstand |
| SCARB2scavenger receptor class B member 2 | Alltid | I 2 tilstander |
| SCO2synthesis of cytochrome C oxidase 2 | Alltid | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Alltid | I 1 tilstand |
| SEMA6Bsemaphorin 6B | Alltid | I 1 tilstand |
| SGCEsarcoglycan epsilon | Alltid | I 2 tilstander |
| SLC25A10solute carrier family 25 member 10 | Alltid | I 1 tilstand |
| SLC25A12solute carrier family 25 member 12 | Alltid | I 1 tilstand |
| SLC25A19solute carrier family 25 member 19 | Alltid | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Alltid | I 2 tilstander |
| SLC7A6OSsolute carrier family 7 member 6 opposite strand | Alltid | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Alltid | I 2 tilstander |
| TRAPPC12trafficking protein particle complex subunit 12 | Alltid | I 2 tilstander |
| TSEN54tRNA splicing endonuclease subunit 54 | Alltid | I 2 tilstander |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alltid | I 1 tilstand |
| YEATS2YEATS domain containing 2 | Alltid | I 2 tilstander |
| ADRA2Badrenoceptor alpha 2B | Svært ofte (80–99 %) | I 1 tilstand |
| APPamyloid beta precursor protein | Svært ofte (80–99 %) | I 2 tilstander |
| ARXaristaless related homeobox | Svært ofte (80–99 %) | I 2 tilstander |
| ASAH1N-acylsphingosine amidohydrolase 1 | Svært ofte (80–99 %) | I 3 tilstander |
| ATAD1ATPase family AAA domain containing 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CD4CD4 molecule | Svært ofte (80–99 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Svært ofte (80–99 %) | I 3 tilstander |
| CNPY3canopy FGF signaling regulator 3 | Svært ofte (80–99 %) | I 1 tilstand |
| CTNND2catenin delta 2 | Svært ofte (80–99 %) | I 1 tilstand |
| DRD2dopamine receptor D2 | Svært ofte (80–99 %) | I 1 tilstand |
| GLRA1glycine receptor alpha 1 | Svært ofte (80–99 %) | I 2 tilstander |
| GPHNgephyrin | Svært ofte (80–99 %) | I 2 tilstander |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Svært ofte (80–99 %) | I 2 tilstander |
| GUF1GTP binding elongation factor GUF1 | Svært ofte (80–99 %) | I 2 tilstander |
| IRF4interferon regulatory factor 4 | Svært ofte (80–99 %) | I 1 tilstand |
| KCTD17potassium channel tetramerization domain containing 17 | Svært ofte (80–99 %) | I 2 tilstander |
| MARCHF6membrane associated ring-CH-type finger 6 | Svært ofte (80–99 %) | I 2 tilstander |
| NEU1neuraminidase 1 | Svært ofte (80–99 %) | I 4 tilstander |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Svært ofte (80–99 %) | I 2 tilstander |
| PHACTR1phosphatase and actin regulator 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PLCB1phospholipase C beta 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PRDM8PR/SET domain 8 | Svært ofte (80–99 %) | I 2 tilstander |
| PRICKLE1prickle planar cell polarity protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PSEN1presenilin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PSEN2presenilin 2 | Svært ofte (80–99 %) | I 2 tilstander |
| RAPGEF2Rap guanine nucleotide exchange factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SAMD12sterile alpha motif domain containing 12 | Svært ofte (80–99 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Svært ofte (80–99 %) | I 3 tilstander |
| SIK1salt inducible kinase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SLC6A5solute carrier family 6 member 5 | Svært ofte (80–99 %) | I 2 tilstander |
| SORL1sortilin related receptor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| STARD7StAR related lipid transfer domain containing 7 | Svært ofte (80–99 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Svært ofte (80–99 %) | I 5 tilstander |
| TNRC6Atrinucleotide repeat containing adaptor 6A | Svært ofte (80–99 %) | I 1 tilstand |
| TOMM40translocase of outer mitochondrial membrane 40 | Svært ofte (80–99 %) | I 1 tilstand |
| TOR1Atorsin family 1 member A | Svært ofte (80–99 %) | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Svært ofte (80–99 %) | I 3 tilstander |
| WDR45WD repeat domain 45 | Svært 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 tilstander |
| ATN1atrophin 1 | Ofte (30–79 %) | I 2 tilstander |
| ATP13A2ATPase cation transporting 13A2 | Ofte (30–79 %) | I 3 tilstander |
| BORCS8BLOC-1 related complex subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ofte (30–79 %) | I 2 tilstander |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| DOCK7dedicator of cytokinesis 7 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| FBXO7F-box protein 7 | Ofte (30–79 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Ofte (30–79 %) | I 2 tilstander |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 5 tilstander |
| PSAT1phosphoserine aminotransferase 1 | Ofte (30–79 %) | I 2 tilstander |
| SC5Dsterol-C5-desaturase | Ofte (30–79 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ofte (30–79 %) | I 4 tilstander |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Ofte (30–79 %) | I 2 tilstander |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Ofte (30–79 %) | I 2 tilstander |
| SLC2A3solute carrier family 2 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SNCAsynuclein alpha | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| THtyrosine hydroxylase | Ofte (30–79 %) | I 2 tilstander |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| VPS13Dvacuolar protein sorting 13 homolog D | Ofte (30–79 %) | I 2 tilstander |
| 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 | Noen ganger (5–29 %) | I 1 tilstand |
| ACTL6Bactin like 6B | Noen ganger (5–29 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Noen ganger (5–29 %) | I 1 tilstand |
| AFF3ALF transcription elongation factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| AKT3AKT serine/threonine kinase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ANO3anoctamin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Noen ganger (5–29 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Noen ganger (5–29 %) | I 1 tilstand |
| BOLA3bolA family member 3 | Noen ganger (5–29 %) | I 2 tilstander |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Noen ganger (5–29 %) | I 2 tilstander |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CACNB4calcium voltage-gated channel auxiliary subunit beta 4 | Noen ganger (5–29 %) | I 2 tilstander |
| CASKcalcium/calmodulin dependent serine protein kinase | Noen ganger (5–29 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Noen ganger (5–29 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CICcapicua transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Noen ganger (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Noen ganger (5–29 %) | I 2 tilstander |
| COQ8Acoenzyme Q8A | Noen ganger (5–29 %) | I 2 tilstander |
| COXFA4cytochrome c oxidase associated subunit FA4 | Noen ganger (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Noen ganger (5–29 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| DMXL2Dmx like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Noen ganger (5–29 %) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| EPM2AEPM2A glucan phosphatase, laforin | Noen ganger (5–29 %) | I 2 tilstander |
| FGF12fibroblast growth factor 12 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Noen ganger (5–29 %) | I 1 tilstand |
| FRMD5FERM domain containing 5 | Noen ganger (5–29 %) | I 1 tilstand |
| FRRS1Lferric chelate reductase 1 like | Noen ganger (5–29 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Noen ganger (5–29 %) | I 2 tilstander |
| GALCgalactosylceramidase | Noen ganger (5–29 %) | I 1 tilstand |
| GLRX5glutaredoxin 5 | Noen ganger (5–29 %) | I 1 tilstand |
| GLYCTKglycerate kinase | Noen ganger (5–29 %) | I 2 tilstander |
| GNAO1G protein subunit alpha o1 | Noen ganger (5–29 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Noen ganger (5–29 %) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Noen ganger (5–29 %) | I 2 tilstander |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Noen ganger (5–29 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Noen ganger (5–29 %) | I 2 tilstander |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Noen ganger (5–29 %) | I 2 tilstander |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LIG3DNA ligase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Noen ganger (5–29 %) | I 2 tilstander |
| MRE11MRE11 double strand break repair nuclease | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Noen ganger (5–29 %) | I 1 tilstand |
| NARS1asparaginyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NAXDNAD(P)HX dehydratase | Noen ganger (5–29 %) | I 1 tilstand |
| NAXENAD(P)HX epimerase | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| NKX2-1NK2 homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NPTX1neuronal pentraxin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NUP54nucleoporin 54 | Noen ganger (5–29 %) | I 1 tilstand |
| NUP62nucleoporin 62 | Noen ganger (5–29 %) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Noen ganger (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| PET100PET100 cytochrome c oxidase chaperone | Noen ganger (5–29 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Noen ganger (5–29 %) | I 1 tilstand |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Noen ganger (5–29 %) | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Noen ganger (5–29 %) | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Noen ganger (5–29 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Noen ganger (5–29 %) | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Noen ganger (5–29 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Noen ganger (5–29 %) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| PODXLpodocalyxin like | Noen ganger (5–29 %) | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Noen ganger (5–29 %) | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Noen ganger (5–29 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PRKCGprotein kinase C gamma | Noen ganger (5–29 %) | I 1 tilstand |
| PTS6-pyruvoyltetrahydropterin synthase | Noen ganger (5–29 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Noen ganger (5–29 %) | I 2 tilstander |
| RBMXRNA binding motif protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RMND1required for meiotic nuclear division 1 homolog | Noen ganger (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SMSspermine synthase | Noen ganger (5–29 %) | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SZT2SZT2 subunit of KICSTOR complex | Noen ganger (5–29 %) | I 1 tilstand |
| TEFMtranscription elongation factor, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| THAP1THAP domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| THAP11THAP domain containing 11 | Noen ganger (5–29 %) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TRIM8tripartite motif containing 8 | Noen ganger (5–29 %) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Noen ganger (5–29 %) | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Noen ganger (5–29 %) | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Noen ganger (5–29 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| VPS41VPS41 subunit of HOPS complex | Noen ganger (5–29 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Noen ganger (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjelden (1–4%) | I 1 tilstand |
| ALKALK receptor tyrosine kinase | Sjelden (1–4%) | I 1 tilstand |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Sjelden (1–4%) | I 1 tilstand |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Sjelden (1–4%) | I 1 tilstand |
| LMO1LIM domain only 1 | Sjelden (1–4%) | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Sjelden (1–4%) | I 1 tilstand |
| PHOX2Bpaired like homeobox 2B | Sjelden (1–4%) | I 1 tilstand |
| ADSLadenylosuccinate lyase | Ikke registrert | I 1 tilstand |
| ATMATM serine/threonine kinase | Ikke registrert | I 1 tilstand |
| ATXN2ataxin 2 | Ikke registrert | I 1 tilstand |
| CHMP2Bcharged multivesicular body protein 2B | Ikke registrert | I 1 tilstand |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Ikke registrert | I 1 tilstand |
| CTSFcathepsin F | Ikke registrert | I 1 tilstand |
| DNAJC5DnaJ heat shock protein family (Hsp40) member C5 | Ikke registrert | I 1 tilstand |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Ikke registrert | I 1 tilstand |
| GAMTguanidinoacetate N-methyltransferase | Ikke registrert | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ikke registrert | I 1 tilstand |
| GLDCglycine decarboxylase | Ikke registrert | I 1 tilstand |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Ikke registrert | I 1 tilstand |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Ikke registrert | I 1 tilstand |
| KCND3potassium voltage-gated channel subfamily D member 3 | Ikke registrert | I 1 tilstand |
| KIF1Bkinesin family member 1B | Ikke registrert | I 1 tilstand |
| LIASlipoic acid synthetase | Ikke registrert | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ikke registrert | I 1 tilstand |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Ikke registrert | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Ikke registrert | I 1 tilstand |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Ikke registrert | I 1 tilstand |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Ikke registrert | I 1 tilstand |
| NFASCneurofascin | Ikke registrert | I 1 tilstand |
| NOL3nucleolar protein 3 | Ikke registrert | I 1 tilstand |
| NUP214nucleoporin 214 | Ikke registrert | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ikke registrert | I 1 tilstand |
| PPT1palmitoyl-protein thioesterase 1 | Ikke registrert | I 1 tilstand |
| QDPRquinoid dihydropteridine reductase | Ikke registrert | I 1 tilstand |
| RORBRAR related orphan receptor B | Ikke registrert | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ikke registrert | I 1 tilstand |
| SERPINI1serpin family I member 1 | Ikke registrert | I 1 tilstand |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Ikke registrert | I 1 tilstand |
| TBPTATA-box binding protein | Ikke registrert | I 1 tilstand |
| TPP1tripeptidyl peptidase 1 | Ikke registrert | I 1 tilstand |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Ikke registrert | I 1 tilstand |
| ZNHIT3zinc finger HIT-type containing 3 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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