Požymis
Jerking
Klinikinis pavadinimas: Myoclonus
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Santrauka
- Taip pat vadinama
- Myoclonic jerks
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Jerking. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Visada | 1 ligoje |
| ADCY5adenylate cyclase 5 | Visada | 4 ligose |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Visada | 3 ligose |
| AHDC1AT-hook DNA binding motif containing 1 | Visada | 1 ligoje |
| APTXaprataxin | Visada | 1 ligoje |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Visada | 1 ligoje |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Visada | 2 ligose |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Visada | 1 ligoje |
| CERS1ceramide synthase 1 | Visada | 1 ligoje |
| CLN5CLN5 lysosomal BMP synthase | Visada | 1 ligoje |
| CLN8CLN8 transmembrane ER and ERGIC protein | Visada | 1 ligoje |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Visada | 2 ligose |
| CNTN2contactin 2 | Visada | 2 ligose |
| COG8component of oligomeric golgi complex 8 | Visada | 2 ligose |
| COQ2coenzyme Q2, polyprenyltransferase | Visada | 1 ligoje |
| CSTBcystatin B | Visada | 2 ligose |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| DNM1Ldynamin 1L | Visada | 1 ligoje |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Visada | 2 ligose |
| FLVCR1FLVCR choline and heme transporter 1 | Visada | 1 ligoje |
| GCSHglycine cleavage system protein H | Visada | 1 ligoje |
| GLRBglycine receptor beta | Visada | 2 ligose |
| GOSR2golgi SNAP receptor complex member 2 | Visada | 1 ligoje |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Visada | 3 ligose |
| GTF3C3general transcription factor IIIC subunit 3 | Visada | 1 ligoje |
| GTPBP1GTP binding protein 1 | Visada | 1 ligoje |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Visada | 1 ligoje |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Visada | 2 ligose |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KCNC1potassium voltage-gated channel subfamily C member 1 | Visada | 1 ligoje |
| KIF5Akinesin family member 5A | Visada | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Visada | 1 ligoje |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Visada | 2 ligose |
| MRAPmelanocortin 2 receptor accessory protein | Visada | 1 ligoje |
| NFU1NFU1 iron-sulfur cluster scaffold | Visada | 1 ligoje |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Visada | 2 ligose |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Visada | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 3 ligose |
| POLR1ARNA polymerase I subunit A | Visada | 1 ligoje |
Rodyti dar 312 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| PRNPprion protein (Kanno blood group) | Visada | 5 ligose |
| PSAPprosaposin | Visada | 5 ligose |
| PTCD3pentatricopeptide repeat domain 3 | Visada | 1 ligoje |
| RFT1RFT1 glycolipid translocator homolog | Visada | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| RPS6KC1ribosomal protein S6 kinase C1 | Visada | 1 ligoje |
| SCARB2scavenger receptor class B member 2 | Visada | 2 ligose |
| SCO2synthesis of cytochrome C oxidase 2 | Visada | 1 ligoje |
| SDHDsuccinate dehydrogenase complex subunit D | Visada | 1 ligoje |
| SEMA6Bsemaphorin 6B | Visada | 1 ligoje |
| SGCEsarcoglycan epsilon | Visada | 2 ligose |
| SLC25A10solute carrier family 25 member 10 | Visada | 1 ligoje |
| SLC25A12solute carrier family 25 member 12 | Visada | 1 ligoje |
| SLC25A19solute carrier family 25 member 19 | Visada | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Visada | 2 ligose |
| SLC7A6OSsolute carrier family 7 member 6 opposite strand | Visada | 1 ligoje |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Visada | 2 ligose |
| TRAPPC12trafficking protein particle complex subunit 12 | Visada | 2 ligose |
| TSEN54tRNA splicing endonuclease subunit 54 | Visada | 2 ligose |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Visada | 1 ligoje |
| YEATS2YEATS domain containing 2 | Visada | 2 ligose |
| ADRA2Badrenoceptor alpha 2B | Labai dažnai (80–99%) | 1 ligoje |
| APPamyloid beta precursor protein | Labai dažnai (80–99%) | 2 ligose |
| ARXaristaless related homeobox | Labai dažnai (80–99%) | 2 ligose |
| ASAH1N-acylsphingosine amidohydrolase 1 | Labai dažnai (80–99%) | 3 ligose |
| ATAD1ATPase family AAA domain containing 1 | Labai dažnai (80–99%) | 2 ligose |
| CD4CD4 molecule | Labai dažnai (80–99%) | 1 ligoje |
| CDKL5cyclin dependent kinase like 5 | Labai dažnai (80–99%) | 3 ligose |
| CNPY3canopy FGF signaling regulator 3 | Labai dažnai (80–99%) | 1 ligoje |
| CTNND2catenin delta 2 | Labai dažnai (80–99%) | 1 ligoje |
| DRD2dopamine receptor D2 | Labai dažnai (80–99%) | 1 ligoje |
| GLRA1glycine receptor alpha 1 | Labai dažnai (80–99%) | 2 ligose |
| GPHNgephyrin | Labai dažnai (80–99%) | 2 ligose |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Labai dažnai (80–99%) | 2 ligose |
| GUF1GTP binding elongation factor GUF1 | Labai dažnai (80–99%) | 2 ligose |
| IRF4interferon regulatory factor 4 | Labai dažnai (80–99%) | 1 ligoje |
| KCTD17potassium channel tetramerization domain containing 17 | Labai dažnai (80–99%) | 2 ligose |
| MARCHF6membrane associated ring-CH-type finger 6 | Labai dažnai (80–99%) | 2 ligose |
| NEU1neuraminidase 1 | Labai dažnai (80–99%) | 4 ligose |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Labai dažnai (80–99%) | 2 ligose |
| PHACTR1phosphatase and actin regulator 1 | Labai dažnai (80–99%) | 1 ligoje |
| PLCB1phospholipase C beta 1 | Labai dažnai (80–99%) | 1 ligoje |
| PRDM8PR/SET domain 8 | Labai dažnai (80–99%) | 2 ligose |
| PRICKLE1prickle planar cell polarity protein 1 | Labai dažnai (80–99%) | 2 ligose |
| PSEN1presenilin 1 | Labai dažnai (80–99%) | 2 ligose |
| PSEN2presenilin 2 | Labai dažnai (80–99%) | 2 ligose |
| RAPGEF2Rap guanine nucleotide exchange factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| SAMD12sterile alpha motif domain containing 12 | Labai dažnai (80–99%) | 1 ligoje |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Labai dažnai (80–99%) | 3 ligose |
| SIK1salt inducible kinase 1 | Labai dažnai (80–99%) | 2 ligose |
| SLC6A5solute carrier family 6 member 5 | Labai dažnai (80–99%) | 2 ligose |
| SORL1sortilin related receptor 1 | Labai dažnai (80–99%) | 1 ligoje |
| STARD7StAR related lipid transfer domain containing 7 | Labai dažnai (80–99%) | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Labai dažnai (80–99%) | 5 ligose |
| TNRC6Atrinucleotide repeat containing adaptor 6A | Labai dažnai (80–99%) | 1 ligoje |
| TOMM40translocase of outer mitochondrial membrane 40 | Labai dažnai (80–99%) | 1 ligoje |
| TOR1Atorsin family 1 member A | Labai dažnai (80–99%) | 1 ligoje |
| TREM2triggering receptor expressed on myeloid cells 2 | Labai dažnai (80–99%) | 3 ligose |
| WDR45WD repeat domain 45 | Labai dažnai (80–99%) | 1 ligoje |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Dažnai (30–79%) | 1 ligoje |
| APOEapolipoprotein E | Dažnai (30–79%) | 2 ligose |
| ATN1atrophin 1 | Dažnai (30–79%) | 2 ligose |
| ATP13A2ATPase cation transporting 13A2 | Dažnai (30–79%) | 3 ligose |
| BORCS8BLOC-1 related complex subunit 8 | Dažnai (30–79%) | 1 ligoje |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Dažnai (30–79%) | 2 ligose |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Dažnai (30–79%) | 2 ligose |
| CASRcalcium sensing receptor | Dažnai (30–79%) | 1 ligoje |
| CHD2chromodomain helicase DNA binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| CIZ1CDKN1A interacting zinc finger protein 1 | Dažnai (30–79%) | 1 ligoje |
| CLN6CLN6 transmembrane ER protein | Dažnai (30–79%) | 1 ligoje |
| CLPBClpB family mitochondrial disaggregase | Dažnai (30–79%) | 2 ligose |
| COQ5coenzyme Q5, methyltransferase | Dažnai (30–79%) | 1 ligoje |
| COX4I1cytochrome c oxidase subunit 4I1 | Dažnai (30–79%) | 1 ligoje |
| CPLX1complexin 1 | Dažnai (30–79%) | 1 ligoje |
| CRLS1cardiolipin synthase 1 | Dažnai (30–79%) | 1 ligoje |
| CUX2cut like homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| DAB1DAB adaptor protein 1 | Dažnai (30–79%) | 1 ligoje |
| DDCdopa decarboxylase | Dažnai (30–79%) | 1 ligoje |
| DENND5ADENN domain containing 5A | Dažnai (30–79%) | 1 ligoje |
| DNM1dynamin 1 | Dažnai (30–79%) | 3 ligose |
| DOCK7dedicator of cytokinesis 7 | Dažnai (30–79%) | 2 ligose |
| DTYMKdeoxythymidylate kinase | Dažnai (30–79%) | 1 ligoje |
| EFHC1EF-hand domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| FBXO28F-box protein 28 | Dažnai (30–79%) | 2 ligose |
| FBXO7F-box protein 7 | Dažnai (30–79%) | 1 ligoje |
| FZR1fizzy and cell division cycle 20 related 1 | Dažnai (30–79%) | 2 ligose |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Dažnai (30–79%) | 1 ligoje |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Dažnai (30–79%) | 1 ligoje |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Dažnai (30–79%) | 2 ligose |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Dažnai (30–79%) | 2 ligose |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Dažnai (30–79%) | 1 ligoje |
| GTPBP2GTP binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| HEXBhexosaminidase subunit beta | Dažnai (30–79%) | 1 ligoje |
| HTThuntingtin | Dažnai (30–79%) | 2 ligose |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Dažnai (30–79%) | 2 ligose |
| KCTD7potassium channel tetramerization domain containing 7 | Dažnai (30–79%) | 1 ligoje |
| KICS2KICSTOR subunit 2 | Dažnai (30–79%) | 1 ligoje |
| LMNB2lamin B2 | Dažnai (30–79%) | 1 ligoje |
| MAPK10mitogen-activated protein kinase 10 | Dažnai (30–79%) | 1 ligoje |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Dažnai (30–79%) | 1 ligoje |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Dažnai (30–79%) | 1 ligoje |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Dažnai (30–79%) | 1 ligoje |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Dažnai (30–79%) | 1 ligoje |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Dažnai (30–79%) | 1 ligoje |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Dažnai (30–79%) | 1 ligoje |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Dažnai (30–79%) | 1 ligoje |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Dažnai (30–79%) | 2 ligose |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Dažnai (30–79%) | 2 ligose |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Dažnai (30–79%) | 2 ligose |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Dažnai (30–79%) | 1 ligoje |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Dažnai (30–79%) | 2 ligose |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Dažnai (30–79%) | 2 ligose |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Dažnai (30–79%) | 1 ligoje |
| MTPAPmitochondrial poly(A) polymerase | Dažnai (30–79%) | 1 ligoje |
| NAGAalpha-N-acetylgalactosaminidase | Dažnai (30–79%) | 2 ligose |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Dažnai (30–79%) | 1 ligoje |
| PCDH19protocadherin 19 | Dažnai (30–79%) | 1 ligoje |
| PGM3phosphoglucomutase 3 | Dažnai (30–79%) | 2 ligose |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Dažnai (30–79%) | 1 ligoje |
| PLPBPpyridoxal phosphate binding protein | Dažnai (30–79%) | 1 ligoje |
| PNPOpyridoxamine 5'-phosphate oxidase | Dažnai (30–79%) | 2 ligose |
| POLGDNA polymerase gamma, catalytic subunit | Dažnai (30–79%) | 5 ligose |
| PSAT1phosphoserine aminotransferase 1 | Dažnai (30–79%) | 2 ligose |
| SC5Dsterol-C5-desaturase | Dažnai (30–79%) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Dažnai (30–79%) | 4 ligose |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Dažnai (30–79%) | 2 ligose |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Dažnai (30–79%) | 2 ligose |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Dažnai (30–79%) | 1 ligoje |
| SLC25A46solute carrier family 25 member 46 | Dažnai (30–79%) | 2 ligose |
| SLC2A3solute carrier family 2 member 3 | Dažnai (30–79%) | 1 ligoje |
| SNCAsynuclein alpha | Dažnai (30–79%) | 2 ligose |
| SOX10SRY-box transcription factor 10 | Dažnai (30–79%) | 1 ligoje |
| STAMBPSTAM binding protein | Dažnai (30–79%) | 1 ligoje |
| TAF1TATA-box binding protein associated factor 1 | Dažnai (30–79%) | 2 ligose |
| THtyrosine hydroxylase | Dažnai (30–79%) | 2 ligose |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| TOE1target of EGR1, exonuclease | Dažnai (30–79%) | 2 ligose |
| TSPOAP1TSPO associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| TSPYL1TSPY like 1 | Dažnai (30–79%) | 1 ligoje |
| TWNKtwinkle mtDNA helicase | Dažnai (30–79%) | 2 ligose |
| VPS13Dvacuolar protein sorting 13 homolog D | Dažnai (30–79%) | 2 ligose |
| VPS53VPS53 subunit of GARP complex | Dažnai (30–79%) | 1 ligoje |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Dažnai (30–79%) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| ACTL6Bactin like 6B | Kartais (5–29%) | 1 ligoje |
| ADARadenosine deaminase RNA specific | Kartais (5–29%) | 1 ligoje |
| AFF3ALF transcription elongation factor 3 | Kartais (5–29%) | 1 ligoje |
| AKT3AKT serine/threonine kinase 3 | Kartais (5–29%) | 1 ligoje |
| ANO3anoctamin 3 | Kartais (5–29%) | 1 ligoje |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Kartais (5–29%) | 1 ligoje |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Kartais (5–29%) | 1 ligoje |
| ATP6V1AATPase H+ transporting V1 subunit A | Kartais (5–29%) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Kartais (5–29%) | 1 ligoje |
| BOLA3bolA family member 3 | Kartais (5–29%) | 2 ligose |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Kartais (5–29%) | 2 ligose |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Kartais (5–29%) | 1 ligoje |
| CACNB4calcium voltage-gated channel auxiliary subunit beta 4 | Kartais (5–29%) | 2 ligose |
| CASKcalcium/calmodulin dependent serine protein kinase | Kartais (5–29%) | 1 ligoje |
| CDK19cyclin dependent kinase 19 | Kartais (5–29%) | 1 ligoje |
| CELF2CUGBP Elav-like family member 2 | Kartais (5–29%) | 1 ligoje |
| CICcapicua transcriptional repressor | Kartais (5–29%) | 1 ligoje |
| CLCN4Cl-/H+ antiporter 4 | Kartais (5–29%) | 1 ligoje |
| CLTCclathrin heavy chain | Kartais (5–29%) | 2 ligose |
| COQ8Acoenzyme Q8A | Kartais (5–29%) | 2 ligose |
| COXFA4cytochrome c oxidase associated subunit FA4 | Kartais (5–29%) | 1 ligoje |
| CRELD1CRELD disulfide isomerase 1 | Kartais (5–29%) | 1 ligoje |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Kartais (5–29%) | 1 ligoje |
| DALRD3DALR anticodon binding domain containing 3 | Kartais (5–29%) | 1 ligoje |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Kartais (5–29%) | 1 ligoje |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Kartais (5–29%) | 1 ligoje |
| DMXL2Dmx like 2 | Kartais (5–29%) | 1 ligoje |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Kartais (5–29%) | 1 ligoje |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Kartais (5–29%) | 1 ligoje |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Kartais (5–29%) | 1 ligoje |
| EPM2AEPM2A glucan phosphatase, laforin | Kartais (5–29%) | 2 ligose |
| FGF12fibroblast growth factor 12 | Kartais (5–29%) | 1 ligoje |
| FOXG1forkhead box G1 | Kartais (5–29%) | 1 ligoje |
| FRMD5FERM domain containing 5 | Kartais (5–29%) | 1 ligoje |
| FRRS1Lferric chelate reductase 1 like | Kartais (5–29%) | 1 ligoje |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Kartais (5–29%) | 1 ligoje |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Kartais (5–29%) | 1 ligoje |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Kartais (5–29%) | 1 ligoje |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Kartais (5–29%) | 2 ligose |
| GALCgalactosylceramidase | Kartais (5–29%) | 1 ligoje |
| GLRX5glutaredoxin 5 | Kartais (5–29%) | 1 ligoje |
| GLYCTKglycerate kinase | Kartais (5–29%) | 2 ligose |
| GNAO1G protein subunit alpha o1 | Kartais (5–29%) | 1 ligoje |
| GNB1G protein subunit beta 1 | Kartais (5–29%) | 1 ligoje |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Kartais (5–29%) | 1 ligoje |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Kartais (5–29%) | 1 ligoje |
| GRM7glutamate metabotropic receptor 7 | Kartais (5–29%) | 1 ligoje |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Kartais (5–29%) | 1 ligoje |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Kartais (5–29%) | 2 ligose |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Kartais (5–29%) | 1 ligoje |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Kartais (5–29%) | 1 ligoje |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Kartais (5–29%) | 2 ligose |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Kartais (5–29%) | 1 ligoje |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Kartais (5–29%) | 1 ligoje |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Kartais (5–29%) | 2 ligose |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Kartais (5–29%) | 1 ligoje |
| KMT2Blysine methyltransferase 2B | Kartais (5–29%) | 1 ligoje |
| LGI1leucine rich glioma inactivated 1 | Kartais (5–29%) | 1 ligoje |
| LIG3DNA ligase 3 | Kartais (5–29%) | 1 ligoje |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Kartais (5–29%) | 2 ligose |
| MRE11MRE11 double strand break repair nuclease | Kartais (5–29%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Kartais (5–29%) | 1 ligoje |
| MTORmechanistic target of rapamycin kinase | Kartais (5–29%) | 1 ligoje |
| NARS1asparaginyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| NAXDNAD(P)HX dehydratase | Kartais (5–29%) | 1 ligoje |
| NAXENAD(P)HX epimerase | Kartais (5–29%) | 1 ligoje |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Kartais (5–29%) | 1 ligoje |
| NECAP1NECAP endocytosis associated 1 | Kartais (5–29%) | 1 ligoje |
| NEUROD2neuronal differentiation 2 | Kartais (5–29%) | 1 ligoje |
| NGLY1N-glycanase 1 | Kartais (5–29%) | 2 ligose |
| NKX2-1NK2 homeobox 1 | Kartais (5–29%) | 1 ligoje |
| NPTX1neuronal pentraxin 1 | Kartais (5–29%) | 1 ligoje |
| NUP54nucleoporin 54 | Kartais (5–29%) | 1 ligoje |
| NUP62nucleoporin 62 | Kartais (5–29%) | 1 ligoje |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Kartais (5–29%) | 1 ligoje |
| OCA2OCA2 melanosomal transmembrane protein | Kartais (5–29%) | 1 ligoje |
| PACS2phosphofurin acidic cluster sorting protein 2 | Kartais (5–29%) | 1 ligoje |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| PET100PET100 cytochrome c oxidase chaperone | Kartais (5–29%) | 1 ligoje |
| PGAP2post-GPI attachment to proteins 2 | Kartais (5–29%) | 1 ligoje |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Kartais (5–29%) | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Kartais (5–29%) | 1 ligoje |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Kartais (5–29%) | 1 ligoje |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Kartais (5–29%) | 1 ligoje |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Kartais (5–29%) | 1 ligoje |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Kartais (5–29%) | 1 ligoje |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Kartais (5–29%) | 1 ligoje |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Kartais (5–29%) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PLA2G6phospholipase A2 group VI | Kartais (5–29%) | 1 ligoje |
| PNKPpolynucleotide kinase 3'-phosphatase | Kartais (5–29%) | 1 ligoje |
| PODXLpodocalyxin like | Kartais (5–29%) | 1 ligoje |
| POLR1CRNA polymerase I and III subunit C | Kartais (5–29%) | 1 ligoje |
| PPFIA3PPFI scaffold protein A3 | Kartais (5–29%) | 1 ligoje |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PRKCGprotein kinase C gamma | Kartais (5–29%) | 1 ligoje |
| PTS6-pyruvoyltetrahydropterin synthase | Kartais (5–29%) | 1 ligoje |
| PURApurine rich element binding protein A | Kartais (5–29%) | 2 ligose |
| RBMXRNA binding motif protein X-linked | Kartais (5–29%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Kartais (5–29%) | 1 ligoje |
| RMND1required for meiotic nuclear division 1 homolog | Kartais (5–29%) | 1 ligoje |
| SATB1SATB homeobox 1 | Kartais (5–29%) | 1 ligoje |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Kartais (5–29%) | 1 ligoje |
| SLC13A5solute carrier family 13 member 5 | Kartais (5–29%) | 1 ligoje |
| SLC1A2solute carrier family 1 member 2 | Kartais (5–29%) | 1 ligoje |
| SLC25A22solute carrier family 25 member 22 | Kartais (5–29%) | 1 ligoje |
| SLC32A1solute carrier family 32 member 1 | Kartais (5–29%) | 1 ligoje |
| SLC38A3solute carrier family 38 member 3 | Kartais (5–29%) | 1 ligoje |
| SMSspermine synthase | Kartais (5–29%) | 1 ligoje |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Kartais (5–29%) | 1 ligoje |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Kartais (5–29%) | 1 ligoje |
| SYNJ1synaptojanin 1 | Kartais (5–29%) | 2 ligose |
| SZT2SZT2 subunit of KICSTOR complex | Kartais (5–29%) | 1 ligoje |
| TEFMtranscription elongation factor, mitochondrial | Kartais (5–29%) | 1 ligoje |
| THAP1THAP domain containing 1 | Kartais (5–29%) | 1 ligoje |
| THAP11THAP domain containing 11 | Kartais (5–29%) | 1 ligoje |
| TRAK1trafficking kinesin protein 1 | Kartais (5–29%) | 2 ligose |
| TRIM8tripartite motif containing 8 | Kartais (5–29%) | 1 ligoje |
| UBA5ubiquitin like modifier activating enzyme 5 | Kartais (5–29%) | 1 ligoje |
| UBE3Aubiquitin protein ligase E3A | Kartais (5–29%) | 1 ligoje |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Kartais (5–29%) | 1 ligoje |
| UFSP2UFM1 specific peptidase 2 | Kartais (5–29%) | 1 ligoje |
| VPS41VPS41 subunit of HOPS complex | Kartais (5–29%) | 1 ligoje |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Kartais (5–29%) | 1 ligoje |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Retai (1–4 %) | 1 ligoje |
| ALKALK receptor tyrosine kinase | Retai (1–4 %) | 1 ligoje |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Retai (1–4 %) | 1 ligoje |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Retai (1–4 %) | 1 ligoje |
| LMO1LIM domain only 1 | Retai (1–4 %) | 1 ligoje |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Retai (1–4 %) | 1 ligoje |
| PHOX2Bpaired like homeobox 2B | Retai (1–4 %) | 1 ligoje |
| ADSLadenylosuccinate lyase | Neužfiksuota | 1 ligoje |
| ATMATM serine/threonine kinase | Neužfiksuota | 1 ligoje |
| ATXN2ataxin 2 | Neužfiksuota | 1 ligoje |
| CHMP2Bcharged multivesicular body protein 2B | Neužfiksuota | 1 ligoje |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Neužfiksuota | 1 ligoje |
| CTSFcathepsin F | Neužfiksuota | 1 ligoje |
| DNAJC5DnaJ heat shock protein family (Hsp40) member C5 | Neužfiksuota | 1 ligoje |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Neužfiksuota | 1 ligoje |
| GAMTguanidinoacetate N-methyltransferase | Neužfiksuota | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Neužfiksuota | 1 ligoje |
| GLDCglycine decarboxylase | Neužfiksuota | 1 ligoje |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Neužfiksuota | 1 ligoje |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Neužfiksuota | 1 ligoje |
| KCND3potassium voltage-gated channel subfamily D member 3 | Neužfiksuota | 1 ligoje |
| KIF1Bkinesin family member 1B | Neužfiksuota | 1 ligoje |
| LIASlipoic acid synthetase | Neužfiksuota | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Neužfiksuota | 1 ligoje |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Neužfiksuota | 1 ligoje |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Neužfiksuota | 1 ligoje |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Neužfiksuota | 1 ligoje |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Neužfiksuota | 1 ligoje |
| NFASCneurofascin | Neužfiksuota | 1 ligoje |
| NOL3nucleolar protein 3 | Neužfiksuota | 1 ligoje |
| NUP214nucleoporin 214 | Neužfiksuota | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Neužfiksuota | 1 ligoje |
| PPT1palmitoyl-protein thioesterase 1 | Neužfiksuota | 1 ligoje |
| QDPRquinoid dihydropteridine reductase | Neužfiksuota | 1 ligoje |
| RORBRAR related orphan receptor B | Neužfiksuota | 1 ligoje |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Neužfiksuota | 1 ligoje |
| SERPINI1serpin family I member 1 | Neužfiksuota | 1 ligoje |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Neužfiksuota | 1 ligoje |
| TBPTATA-box binding protein | Neužfiksuota | 1 ligoje |
| TPP1tripeptidyl peptidase 1 | Neužfiksuota | 1 ligoje |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Neužfiksuota | 1 ligoje |
| ZNHIT3zinc finger HIT-type containing 3 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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