Tunnus
Tonic seizure
A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.
Kokkuvõte
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Tonic seizure, and the rest of your genome, with one test.
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Telli oma Genome Test98 geeni on seotud tunnusega Tonic seizure
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Tonic seizure. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ARFGEF1ARF guanine nucleotide exchange factor 1 | Alati | Esineb 1 haiguses |
| ARHGEF9Cdc42 guanine nucleotide exchange factor 9 | Alati | Esineb 1 haiguses |
| ARID2AT-rich interaction domain 2 | Alati | Esineb 1 haiguses |
| ARXaristaless related homeobox | Alati | Esineb 1 haiguses |
| ATP6V0CATPase H+ transporting V0 subunit c | Alati | Esineb 1 haiguses |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Alati | Esineb 1 haiguses |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Alati | Esineb 1 haiguses |
| CLCN3Cl-/H+ antiporter 3 | Alati | Esineb 2 haiguses |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Alati | Esineb 1 haiguses |
| FGF12fibroblast growth factor 12 | Alati | Esineb 1 haiguses |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Alati | Esineb 1 haiguses |
| GTF3C3general transcription factor IIIC subunit 3 | Alati | Esineb 1 haiguses |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Alati | Esineb 1 haiguses |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alati | Esineb 1 haiguses |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Alati | Esineb 1 haiguses |
| KCNT2potassium sodium-activated channel subfamily T member 2 | Alati | Esineb 1 haiguses |
| KLHL20kelch like family member 20 | Alati | Esineb 1 haiguses |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Alati | Esineb 1 haiguses |
| MECP2methyl-CpG binding protein 2 | Alati | Esineb 1 haiguses |
| NAPBNSF attachment protein beta | Alati | Esineb 1 haiguses |
| NEXMIFneurite extension and migration factor | Alati | Esineb 1 haiguses |
| PHACTR1phosphatase and actin regulator 1 | Alati | Esineb 1 haiguses |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Alati | Esineb 1 haiguses |
| PLCB1phospholipase C beta 1 | Alati | Esineb 1 haiguses |
| PLPBPpyridoxal phosphate binding protein | Alati | Esineb 1 haiguses |
| POMKprotein O-mannose kinase | Alati | Esineb 1 haiguses |
| PSAPprosaposin | Alati | Esineb 1 haiguses |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Alati | Esineb 1 haiguses |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Alati | Esineb 2 haiguses |
| SLC25A12solute carrier family 25 member 12 | Alati | Esineb 1 haiguses |
| SV2Asynaptic vesicle glycoprotein 2A | Alati | Esineb 1 haiguses |
| TBL1XR1TBL1X/Y related 1 | Alati | Esineb 1 haiguses |
| TSEN2tRNA splicing endonuclease subunit 2 | Alati | Esineb 1 haiguses |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alati | Esineb 1 haiguses |
| UNC13Aunc-13 homolog A | Alati | Esineb 1 haiguses |
| VPS53VPS53 subunit of GARP complex | Alati | Esineb 1 haiguses |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Sageli (30–79%) | Esineb 1 haiguses |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP6V1AATPase H+ transporting V1 subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 58 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| CENPEcentromere protein E | Sageli (30–79%) | Esineb 1 haiguses |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Sageli (30–79%) | Esineb 1 haiguses |
| CHD2chromodomain helicase DNA binding protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| COG3component of oligomeric golgi complex 3 | Sageli (30–79%) | Esineb 1 haiguses |
| CUL3cullin 3 | Sageli (30–79%) | Esineb 1 haiguses |
| CUX2cut like homeobox 2 | Sageli (30–79%) | Esineb 1 haiguses |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Sageli (30–79%) | Esineb 1 haiguses |
| DENND5ADENN domain containing 5A | Sageli (30–79%) | Esineb 1 haiguses |
| DMXL2Dmx like 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DNM1dynamin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DOCK7dedicator of cytokinesis 7 | Sageli (30–79%) | Esineb 1 haiguses |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FBXO28F-box protein 28 | Sageli (30–79%) | Esineb 1 haiguses |
| FZR1fizzy and cell division cycle 20 related 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Sageli (30–79%) | Esineb 1 haiguses |
| HID1HID1 domain containing | Sageli (30–79%) | Esineb 1 haiguses |
| HIVEP2HIVEP zinc finger 2 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| KDM5Clysine demethylase 5C | Sageli (30–79%) | Esineb 1 haiguses |
| LNPKlunapark, ER junction formation factor | Sageli (30–79%) | Esineb 1 haiguses |
| MAST3microtubule associated serine/threonine kinase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| MTHFSmethenyltetrahydrofolate synthetase | Sageli (30–79%) | Esineb 1 haiguses |
| NSFN-ethylmaleimide sensitive factor, vesicle fusing ATPase | Sageli (30–79%) | Esineb 1 haiguses |
| PCDH12protocadherin 12 | Sageli (30–79%) | Esineb 1 haiguses |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| RNU2-2RNA, U2 small nuclear 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RUSC2RUN and SH3 domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SQORsulfide quinone oxidoreductase | Sageli (30–79%) | Esineb 1 haiguses |
| SYNJ1synaptojanin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SZT2SZT2 subunit of KICSTOR complex | Sageli (30–79%) | Esineb 1 haiguses |
| ADNPactivity dependent neuroprotector homeobox | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP85Lcentrosomal protein 85L | Mõnikord (5–29%) | Esineb 1 haiguses |
| CNTNAP2contactin associated protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLULglutamate-ammonia ligase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB1G protein subunit beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNQ5potassium voltage-gated channel subfamily Q member 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NACC1nucleus accumbens associated 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PACS2phosphofurin acidic cluster sorting protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPFIBP1PPFIB scaffold protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC38A3solute carrier family 38 member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPOUT1SPOUT domain containing methyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STX1Bsyntaxin 1B | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM147transmembrane protein 147 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIM8tripartite motif containing 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UFSP2UFM1 specific peptidase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Harva (1–4%) | Esineb 1 haiguses |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Harva (1–4%) | Esineb 1 haiguses |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Harva (1–4%) | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
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Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast