Tunnus
Action tremor
A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.
Kokkuvõte
- Kehasüsteem
- Abnormality of the nervous system
Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/action-tremor.json"
page <- fromJSON(url)
page$trait$nameLugege välja geenid, mis on seotud Action tremor-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test37 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- DCMA Syndrome (3-Methylglutaconic Aciduria Type 5)Reads 1 of these genesDNAJC19About this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- Fragile X SyndromeReads 1 of these genesFMR1About this report →
- Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)Reads 1 of these genesPMP22About this report →
Show 33 more reports
- NGLY1 DeficiencyReads 1 of these genesNGLY1About this report →
- POLR3A-Related DisorderReads 1 of these genesPOLR3AAbout this report →
- Primary Microcephaly 26 (LMNB1)Reads 1 of these genesLMNB1About this report →
- UNC13A-Related Neurodevelopmental DisordersReads 1 of these genesUNC13AAbout this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 5 of these genesITPR1ATN1PPP2R2BNPTX1ATXN2About this report →
- Inherited Neurodegenerative DisordersReads 15 of these genesATP2B3ITPR1ATN1CLCN2PPP2R2BRTN2About this report →
- Epilepsy (Full Panel)Reads 10 of these genesATP6AP2GABRA1GABRG2PCDH19SCN1ASCN1BAbout this report →
- Hereditary Manganese Transporter DisordersReads 1 of these genesSLC30A10About this report →
- Familial Hemiplegic MigraineReads 1 of these genesSCN1AAbout this report →
- Neuroacanthocytosis and Huntington Disease PhenocopiesReads 1 of these genesJPH3About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 3 of these genesWARS2COL6A3KCNJ10About this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 1 of these genesLMNB1About this report →
- GalactosemiaReads 1 of these genesGALTAbout this report →
- Hereditary Episodic AtaxiasReads 1 of these genesSCN2AAbout this report →
- Thiamine Transporter and Metabolism DisordersReads 1 of these genesSLC19A3About this report →
- Rare Hereditary Peripheral NeuropathiesReads 6 of these genesRTN2SLC19A3POLGSCN9AMPZPMP22About this report →
- Charcot-Marie-Tooth DiseaseReads 3 of these genesRTN2MPZPMP22About this report →
- Other Inherited LeukodystrophiesReads 3 of these genesCLCN2LMNB1POLR3AAbout this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 1 of these genesITPR1About this report →
- Familial HypomagnesemiaReads 1 of these genesKCNJ10About this report →
- Female InfertilityReads 2 of these genesGALTFMR1About this report →
- Primary Mitochondrial DiseaseReads 3 of these genesPOLGTK2TOP3AAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesSCN9AAbout this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesPOLR3AAbout this report →
- Intellectual DisabilityReads 3 of these genesATP6AP2PCDH19SCN2AAbout this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesFUSAbout this report →
- Congenital Muscular DystrophiesReads 1 of these genesCOL6A3About this report →
- Limb-Girdle Muscular DystrophyReads 1 of these genesCOL6A3About this report →
- Osteogenesis ImperfectaReads 1 of these genesPOLR3AAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesSLC9A1About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesRTN2About this report →
- Leigh SyndromeReads 1 of these genesSLC19A3About this report →
- Congenital Disorders of GlycosylationReads 1 of these genesATP6AP2About this report →
Lugege välja geenid, mis on seotud Action tremor-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test43 geeni on seotud tunnusega Action tremor
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Action tremor. 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 |
|---|---|---|
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Alati | Esineb 2 haiguses |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alati | Esineb 3 haiguses |
| UNC13Aunc-13 homolog A | Alati | Esineb 1 haiguses |
| UROC1urocanate hydratase 1 | Alati | Esineb 2 haiguses |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| ATN1atrophin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Sageli (30–79%) | Esineb 2 haiguses |
| CLCN2chloride voltage-gated channel 2 | Sageli (30–79%) | Esineb 1 haiguses |
| COL6A3collagen type VI alpha 3 chain | Sageli (30–79%) | Esineb 2 haiguses |
| GALTgalactose-1-phosphate uridylyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| GGT1gamma-glutamyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Sageli (30–79%) | Esineb 1 haiguses |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Sageli (30–79%) | Esineb 2 haiguses |
| RTN2reticulon 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC19A3solute carrier family 19 member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC30A10solute carrier family 30 member 10 | Sageli (30–79%) | Esineb 1 haiguses |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMNB1lamin B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NGLY1N-glycanase 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| NOL3nucleolar protein 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPTX1neuronal pentraxin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PCDH19protocadherin 19 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLR3ARNA polymerase III subunit A | Mõnikord (5–29%) | Esineb 1 haiguses |
| RRM1ribonucleotide reductase catalytic subunit M1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TK2thymidine kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TOP3ADNA topoisomerase III alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Harva (1–4%) | Esineb 1 haiguses |
| ATXN2ataxin 2 | Pole registreeritud | Esineb 1 haiguses |
| DRD3dopamine receptor D3 | Pole registreeritud | Esineb 1 haiguses |
| FMR1fragile X messenger ribonucleoprotein 1 | Pole registreeritud | Esineb 1 haiguses |
| FUSFUS RNA binding protein | Pole registreeritud | Esineb 1 haiguses |
| JPH3junctophilin 3 | Pole registreeritud | Esineb 1 haiguses |
| MPZmyelin protein zero | Pole registreeritud | Esineb 1 haiguses |
Näita veel 3 geeni
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 2026.10.19-9814e911.
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Read the genes behind these traits in your own DNA.
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Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
