Tulajdonság
Brisk reflexes
Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.
Összefoglaló
- Más néven
- Brisk deep tendon reflexes
- Szervrendszer
- Abnormality of the nervous system
Ez az oldal adatként
Adja hozzá a .json végződést az oldal címéhez, vagy kérjen application/json típust, hogy JSON-ként olvassa be.
library(jsonlite)
url <- "https://dantelabs.com/traits/brisk-reflexes.json"
page <- fromJSON(url)
page$trait$nameOlvassa el a(z) Brisk reflexes nevű génhez kapcsolódó információkat, valamint a genomja többi részét egyetlen teszttel.
449 $-tólIngyenes szállítás · Eredmények 6–8 hét alatt
Kérem a Genome Testemet73 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.
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Show 69 more reports
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- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 2 of these genesNSD1NFIXAbout this report →
- BCAT2 Deficiency (Hypervalinaemia and Hyperleucine-Isoleucinaemia)Reads 1 of these genesBCAT2About this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- GEMIN5-Related Neurodevelopmental DisorderReads 1 of these genesGEMIN5About this report →
- GTP Cyclohydrolase 1 DeficiencyReads 1 of these genesGCH1About this report →
- Hyperekplexia 3 (SLC6A5)Reads 1 of these genesSLC6A5About this report →
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- SPTBN1-Related Neurodevelopmental DisorderReads 1 of these genesSPTBN1About this report →
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Olvassa el a(z) Brisk reflexes nevű génhez kapcsolódó információkat, valamint a genomja többi részét egyetlen teszttel.
449 $-tólIngyenes szállítás · Eredmények 6–8 hét alatt
Kérem a Genome Testemet135 gén kapcsolódik ehhez: Brisk reflexes
Ezeknek a géneknek a változásai olyan ritka betegségeket okoznak, amelyekben előfordul a(z) Brisk reflexes. A tulajdonsággal rendelkező emberek többségének nincs ezek közül egyik betegsége sem, a listán szereplő gének pedig semmit nem mondanak el senki saját genomjáról.
| Gén | Milyen gyakran fordul elő | Betegségek |
|---|---|---|
| ATG5autophagy related 5 | Mindig | 1 betegségben |
| ATP13A2ATPase cation transporting 13A2 | Mindig | 2 betegségben |
| BCAT2branched chain amino acid transaminase 2 | Mindig | 1 betegségben |
| BORCS8BLOC-1 related complex subunit 8 | Mindig | 1 betegségben |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Mindig | 2 betegségben |
| COX15cytochrome c oxidase assembly factor COX15 | Mindig | 1 betegségben |
| COX6B1cytochrome c oxidase subunit 6B1 | Mindig | 1 betegségben |
| DARS1aspartyl-tRNA synthetase 1 | Mindig | 1 betegségben |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Mindig | 1 betegségben |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Mindig | 1 betegségben |
| FUCA1alpha-L-fucosidase 1 | Mindig | 1 betegségben |
| GDAP2ganglioside induced differentiation associated protein 2 | Mindig | 1 betegségben |
| GTPBP2GTP binding protein 2 | Mindig | 1 betegségben |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Mindig | 1 betegségben |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Mindig | 1 betegségben |
| LYRM7LYR motif containing 7 | Mindig | 1 betegségben |
| MALmal, T cell differentiation protein (MAL blood group) | Mindig | 1 betegségben |
| MARK2microtubule affinity regulating kinase 2 | Mindig | 1 betegségben |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Mindig | 1 betegségben |
| MMAAmetabolism of cobalamin associated A | Mindig | 1 betegségben |
| MMADHCmetabolism of cobalamin associated D | Mindig | 1 betegségben |
| MRPS25mitochondrial ribosomal protein S25 | Mindig | 1 betegségben |
| MSTNmyostatin | Mindig | 1 betegségben |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Mindig | 2 betegségben |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Mindig | 2 betegségben |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Mindig | 1 betegségben |
| NOTCH3notch receptor 3 | Mindig | 1 betegségben |
| NSD1nuclear receptor binding SET domain protein 1 | Mindig | 1 betegségben |
| PAK3p21 (RAC1) activated kinase 3 | Mindig | 1 betegségben |
| PDE8Bphosphodiesterase 8B | Mindig | 1 betegségben |
| PEX19peroxisomal biogenesis factor 19 | Mindig | 1 betegségben |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Mindig | 1 betegségben |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Mindig | 1 betegségben |
| RNF170ring finger protein 170 | Mindig | 1 betegségben |
| RTN2reticulon 2 | Mindig | 1 betegségben |
| SCO1synthesis of cytochrome C oxidase 1 | Mindig | 1 betegségben |
| SCO2synthesis of cytochrome C oxidase 2 | Mindig | 1 betegségben |
| SMG9SMG9 nonsense mediated mRNA decay factor | Mindig | 1 betegségben |
| SURF1SURF1 cytochrome c oxidase assembly factor | Mindig | 1 betegségben |
| TACO1translational activator of cytochrome c oxidase I | Mindig | 1 betegségben |
További 95 gén megjelenítése
| Gén | Milyen gyakran fordul elő | Betegségek |
|---|---|---|
| TANGO2transport and golgi organization 2 homolog | Mindig | 1 betegségben |
| VRK1VRK serine/threonine kinase 1 | Mindig | 1 betegségben |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Mindig | 1 betegségben |
| CDC40cell division cycle 40 | Nagyon gyakran (80–99%) | 1 betegségben |
| NFU1NFU1 iron-sulfur cluster scaffold | Nagyon gyakran (80–99%) | 1 betegségben |
| PPIL1peptidylprolyl isomerase like 1 | Nagyon gyakran (80–99%) | 1 betegségben |
| REEP1receptor accessory protein 1 | Nagyon gyakran (80–99%) | 1 betegségben |
| TBCDtubulin folding cofactor D | Nagyon gyakran (80–99%) | 1 betegségben |
| ABCB7ATP binding cassette subfamily B member 7 | Gyakran (30–79%) | 1 betegségben |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Gyakran (30–79%) | 2 betegségben |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Gyakran (30–79%) | 1 betegségben |
| ANO10anoctamin 10 | Gyakran (30–79%) | 1 betegségben |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Gyakran (30–79%) | 1 betegségben |
| COQ5coenzyme Q5, methyltransferase | Gyakran (30–79%) | 1 betegségben |
| COQ8Acoenzyme Q8A | Gyakran (30–79%) | 1 betegségben |
| COX11cytochrome c oxidase copper chaperone COX11 | Gyakran (30–79%) | 1 betegségben |
| DLATdihydrolipoamide S-acetyltransferase | Gyakran (30–79%) | 1 betegségben |
| ELOVL1ELOVL fatty acid elongase 1 | Gyakran (30–79%) | 1 betegségben |
| EPG5ectopic P-granules 5 autophagy tethering factor | Gyakran (30–79%) | 1 betegségben |
| ERLIN1ER lipid raft associated 1 | Gyakran (30–79%) | 1 betegségben |
| EXOSC9exosome component 9 | Gyakran (30–79%) | 1 betegségben |
| FUSFUS RNA binding protein | Gyakran (30–79%) | 1 betegségben |
| GBA2glucosylceramidase beta 2 | Gyakran (30–79%) | 1 betegségben |
| GCH1GTP cyclohydrolase 1 | Gyakran (30–79%) | 1 betegségben |
| GEMIN5gem nuclear organelle associated protein 5 | Gyakran (30–79%) | 1 betegségben |
| GLYCTKglycerate kinase | Gyakran (30–79%) | 1 betegségben |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Gyakran (30–79%) | 1 betegségben |
| GNSglucosamine (N-acetyl)-6-sulfatase | Gyakran (30–79%) | 1 betegségben |
| HARS1histidyl-tRNA synthetase 1 | Gyakran (30–79%) | 1 betegségben |
| IMPDH2inosine monophosphate dehydrogenase 2 | Gyakran (30–79%) | 1 betegségben |
| JAM2junctional adhesion molecule 2 | Gyakran (30–79%) | 1 betegségben |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Gyakran (30–79%) | 1 betegségben |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Gyakran (30–79%) | 1 betegségben |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Gyakran (30–79%) | 1 betegségben |
| NFIXnuclear factor I X | Gyakran (30–79%) | 1 betegségben |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Gyakran (30–79%) | 1 betegségben |
| PARK7Parkinsonism associated deglycase | Gyakran (30–79%) | 1 betegségben |
| PEX16peroxisomal biogenesis factor 16 | Gyakran (30–79%) | 1 betegségben |
| PKDCCprotein kinase domain containing, cytoplasmic | Gyakran (30–79%) | 1 betegségben |
| PLA2G6phospholipase A2 group VI | Gyakran (30–79%) | 1 betegségben |
| PMPCApeptidase, mitochondrial processing subunit alpha | Gyakran (30–79%) | 1 betegségben |
| PRR12proline rich 12 | Gyakran (30–79%) | 1 betegségben |
| RAB3ARAB3A, member RAS oncogene family | Gyakran (30–79%) | 1 betegségben |
| REPS1RALBP1 associated Eps domain containing 1 | Gyakran (30–79%) | 1 betegségben |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Gyakran (30–79%) | 1 betegségben |
| SIGMAR1sigma receptor chaperone 1 | Gyakran (30–79%) | 1 betegségben |
| SLC1A4solute carrier family 1 member 4 | Gyakran (30–79%) | 1 betegségben |
| SLC9A7solute carrier family 9 member A7 | Gyakran (30–79%) | 1 betegségben |
| SORDsorbitol dehydrogenase | Gyakran (30–79%) | 1 betegségben |
| SPASTspastin | Gyakran (30–79%) | 1 betegségben |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Gyakran (30–79%) | 1 betegségben |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Gyakran (30–79%) | 1 betegségben |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Gyakran (30–79%) | 1 betegségben |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Gyakran (30–79%) | 1 betegségben |
| TARDBPTAR DNA binding protein | Gyakran (30–79%) | 1 betegségben |
| THtyrosine hydroxylase | Gyakran (30–79%) | 1 betegségben |
| TMEM106Btransmembrane protein 106B | Gyakran (30–79%) | 1 betegségben |
| TRMT2BtRNA methyltransferase 2B | Gyakran (30–79%) | 1 betegségben |
| TSPOAP1TSPO associated protein 1 | Gyakran (30–79%) | 1 betegségben |
| TUBGCP2tubulin gamma complex component 2 | Gyakran (30–79%) | 1 betegségben |
| UBQLN2ubiquilin 2 | Gyakran (30–79%) | 1 betegségben |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Gyakran (30–79%) | 1 betegségben |
| VCPvalosin containing protein | Gyakran (30–79%) | 1 betegségben |
| WSB2WD repeat and SOCS box containing 2 | Gyakran (30–79%) | 1 betegségben |
| AASSaminoadipate-semialdehyde synthase | Néha (5–29%) | 1 betegségben |
| CADM3cell adhesion molecule 3 | Néha (5–29%) | 1 betegségben |
| CARS1cysteinyl-tRNA synthetase 1 | Néha (5–29%) | 1 betegségben |
| CHMP1Acharged multivesicular body protein 1A | Néha (5–29%) | 1 betegségben |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Néha (5–29%) | 1 betegségben |
| COG5component of oligomeric golgi complex 5 | Néha (5–29%) | 1 betegségben |
| ELNelastin | Néha (5–29%) | 1 betegségben |
| FBLN5fibulin 5 | Néha (5–29%) | 1 betegségben |
| FTLferritin light chain | Néha (5–29%) | 1 betegségben |
| GRM1glutamate metabotropic receptor 1 | Néha (5–29%) | 1 betegségben |
| H4C5H4 clustered histone 5 | Néha (5–29%) | 1 betegségben |
| PITRM1pitrilysin metallopeptidase 1 | Néha (5–29%) | 1 betegségben |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Néha (5–29%) | 2 betegségben |
| RNASEH1ribonuclease H1 | Néha (5–29%) | 1 betegségben |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Néha (5–29%) | 1 betegségben |
| SETSET nuclear proto-oncogene | Néha (5–29%) | 1 betegségben |
| SLC16A2solute carrier family 16 member 2 | Néha (5–29%) | 1 betegségben |
| SLC39A14solute carrier family 39 member 14 | Néha (5–29%) | 1 betegségben |
| SLC52A3solute carrier family 52 member 3 | Néha (5–29%) | 1 betegségben |
| SLC6A5solute carrier family 6 member 5 | Néha (5–29%) | 1 betegségben |
| SMC5structural maintenance of chromosomes 5 | Néha (5–29%) | 1 betegségben |
| TRMT10AtRNA methyltransferase 10A | Néha (5–29%) | 1 betegségben |
| WDR62WD repeat domain 62 | Néha (5–29%) | 1 betegségben |
| CAMTA1calmodulin binding transcription activator 1 | Ritkán (1–4%) | 1 betegségben |
| POU4F1POU class 4 homeobox 1 | Ritkán (1–4%) | 1 betegségben |
| SPTBN1spectrin beta, non-erythrocytic 1 | Ritkán (1–4%) | 1 betegségben |
| ADSLadenylosuccinate lyase | Nincs rögzítve | 1 betegségben |
| COX5Acytochrome c oxidase subunit 5A | Nincs rögzítve | 1 betegségben |
| COXFA4cytochrome c oxidase associated subunit FA4 | Nincs rögzítve | 1 betegségben |
| GLE1GLE1 RNA export mediator | Nincs rögzítve | 1 betegségben |
| IER3IP1immediate early response 3 interacting protein 1 | Nincs rögzítve | 1 betegségben |
Az, hogy milyen gyakran fordul elő a gén valamelyik állapotával élő emberek körében (a leggyakoribb érték, ahogyan a Human Phenotype Ontology rögzíti). Ezek az oldalak tulajdonságokat és az azok mögött álló kutatásokat ismertetik; nem diagnózist jelentenek. A tünetekkel kapcsolatban orvoshoz vagy genetikai tanácsadóhoz érdemes fordulni.
Tágabb tulajdonságok
Forrás
- Human Phenotype Ontology, 2026-09-01 kiadás: a tulajdonság, a nevei, a definíciója és a hozzá kapcsolt gének. További információ: hpo.jax.org.
- Adatkiadás: 2026.10.18-8b139e39.
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Ingyenes szállítás · Eredmények 6–8 hét alatt
