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Tunnus
Delayed ability to sit
A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.
Kokkuvõte
- Kehasüsteem
- Abnormality of the nervous system
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/delayed-ability-to-sit.json"
page <- fromJSON(url)
page$trait$nameDelayed ability to sitHP:0025336
AtlasKellele me abiks olemeMeie teadusTootedTulemused
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Lugege välja geenid, mis on seotud Delayed ability to sit-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test109 geeni on seotud tunnusega Delayed ability to sit
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Delayed ability to sit. 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 |
|---|---|---|
| ACTA1actin alpha 1, skeletal muscle | Alati | Esineb 1 haiguses |
| ADCY5adenylate cyclase 5 | Alati | Esineb 2 haiguses |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Alati | Esineb 1 haiguses |
| ARID2AT-rich interaction domain 2 | Alati | Esineb 1 haiguses |
| ASPNATaspartate N-acetyltransferase | Alati | Esineb 1 haiguses |
| BORCS8BLOC-1 related complex subunit 8 | Alati | Esineb 1 haiguses |
| CDK13cyclin dependent kinase 13 | Alati | Esineb 1 haiguses |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Alati | Esineb 1 haiguses |
| CHRNDcholinergic receptor nicotinic delta subunit | Alati | Esineb 1 haiguses |
| CLDN11claudin 11 | Alati | Esineb 1 haiguses |
| COL3A1collagen type III alpha 1 chain | Alati | Esineb 1 haiguses |
| COX18cytochrome c oxidase assembly factor COX18 | Alati | Esineb 1 haiguses |
| CUL3cullin 3 | Alati | Esineb 1 haiguses |
| DCPSdecapping enzyme, scavenger | Alati | Esineb 1 haiguses |
| DNM1Ldynamin 1L | Alati | Esineb 1 haiguses |
| DOT1LDOT1 like histone lysine methyltransferase | Alati | Esineb 1 haiguses |
| DPYSL5dihydropyrimidinase like 5 | Alati | Esineb 1 haiguses |
| ESAMendothelial cell adhesion molecule | Alati | Esineb 1 haiguses |
| FOXG1forkhead box G1 | Alati | Esineb 1 haiguses |
| GET4guided entry of tail-anchored proteins factor 4 | Alati | Esineb 1 haiguses |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Alati | Esineb 1 haiguses |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Alati | Esineb 1 haiguses |
| GTPBP2GTP binding protein 2 | Alati | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Alati | Esineb 1 haiguses |
| INPP5Einositol polyphosphate-5-phosphatase E | Alati | Esineb 1 haiguses |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alati | Esineb 2 haiguses |
| JPH1junctophilin 1 | Alati | Esineb 1 haiguses |
| KAT6Alysine acetyltransferase 6A | Alati | Esineb 1 haiguses |
| KDM2Blysine demethylase 2B | Alati | Esineb 1 haiguses |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Alati | Esineb 1 haiguses |
| LGI1leucine rich glioma inactivated 1 | Alati | Esineb 1 haiguses |
| LRRC7leucine rich repeat containing 7 | Alati | Esineb 1 haiguses |
| MDH2malate dehydrogenase 2 | Alati | Esineb 1 haiguses |
| MECP2methyl-CpG binding protein 2 | Alati | Esineb 2 haiguses |
| MED16mediator complex subunit 16 | Alati | Esineb 1 haiguses |
| MEF2Cmyocyte enhancer factor 2C | Alati | Esineb 1 haiguses |
| MKS1MKS transition zone complex subunit 1 | Alati | Esineb 1 haiguses |
| NEUROD2neuronal differentiation 2 | Alati | Esineb 1 haiguses |
| OPA1OPA1 mitochondrial dynamin like GTPase | Alati | Esineb 1 haiguses |
| OTUD7AOTU deubiquitinase 7A | Alati | Esineb 1 haiguses |
Näita veel 69 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Alati | Esineb 1 haiguses |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Alati | Esineb 1 haiguses |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Alati | Esineb 1 haiguses |
| RBL2RB transcriptional corepressor like 2 | Alati | Esineb 1 haiguses |
| RFC4replication factor C subunit 4 | Alati | Esineb 1 haiguses |
| RNU5B-1RNA, U5B small nuclear 1 | Alati | Esineb 1 haiguses |
| ROBO3roundabout guidance receptor 3 | Alati | Esineb 1 haiguses |
| SLC18A2solute carrier family 18 member A2 | Alati | Esineb 1 haiguses |
| SLC25A42solute carrier family 25 member 42 | Alati | Esineb 1 haiguses |
| SLC39A8solute carrier family 39 member 8 | Alati | Esineb 1 haiguses |
| SONSON DNA and RNA binding protein | Alati | Esineb 1 haiguses |
| TAF8TATA-box binding protein associated factor 8 | Alati | Esineb 1 haiguses |
| VAMP1vesicle associated membrane protein 1 | Alati | Esineb 1 haiguses |
| VPS35LVPS35 endosomal protein sorting factor like | Alati | Esineb 1 haiguses |
| VPS51VPS51 subunit of GARP complex | Alati | Esineb 1 haiguses |
| WDR83OSWD repeat domain 83 opposite strand | Alati | Esineb 1 haiguses |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Alati | Esineb 1 haiguses |
| AHDC1AT-hook DNA binding motif containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FTH1ferritin heavy chain 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GAAalpha glucosidase | Väga sageli (80–99%) | Esineb 1 haiguses |
| GNAI1G protein subunit alpha i1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| H3-3AH3.3 histone A | Väga sageli (80–99%) | Esineb 1 haiguses |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NARS1asparaginyl-tRNA synthetase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Väga sageli (80–99%) | Esineb 1 haiguses |
| SNX14sorting nexin 14 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TAF4TATA-box binding protein associated factor 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TTC5tetratricopeptide repeat domain 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| UGDHUDP-glucose 6-dehydrogenase | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADGRL1adhesion G protein-coupled receptor L1 | Sageli (30–79%) | Esineb 1 haiguses |
| CASKcalcium/calmodulin dependent serine protein kinase | Sageli (30–79%) | Esineb 1 haiguses |
| CELF2CUGBP Elav-like family member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CTBP1C-terminal binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CTNNB1catenin beta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DAG1dystroglycan 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EIF3Feukaryotic translation initiation factor 3 subunit F | Sageli (30–79%) | Esineb 1 haiguses |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EXTL3exostosin like glycosyltransferase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| FEM1Bfem-1 homolog B | Sageli (30–79%) | Esineb 1 haiguses |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| HIVEP2HIVEP zinc finger 2 | Sageli (30–79%) | Esineb 1 haiguses |
| HK1hexokinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MACF1microtubule actin crosslinking factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MAU2MAU2 sister chromatid cohesion factor | Sageli (30–79%) | Esineb 1 haiguses |
| MBD5methyl-CpG binding domain protein 5 | Sageli (30–79%) | Esineb 1 haiguses |
| NEXMIFneurite extension and migration factor | Sageli (30–79%) | Esineb 1 haiguses |
| OPHN1oligophrenin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Sageli (30–79%) | Esineb 1 haiguses |
| PLP1proteolipid protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| POLR3KRNA polymerase III subunit K | Sageli (30–79%) | Esineb 1 haiguses |
| PPFIA3PPFI scaffold protein A3 | Sageli (30–79%) | Esineb 1 haiguses |
| RNU2-2RNA, U2 small nuclear 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SGSM3small G protein signaling modulator 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SIK3SIK family kinase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TRIM8tripartite motif containing 8 | Sageli (30–79%) | Esineb 1 haiguses |
| TUBB3tubulin beta 3 class III | Sageli (30–79%) | Esineb 1 haiguses |
| WASF1WASP family member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| WDR26WD repeat domain 26 | Sageli (30–79%) | Esineb 1 haiguses |
| ALMS1ALMS1 centrosome and basal body associated protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NGLY1N-glycanase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SATB1SATB homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC9A7solute carrier family 9 member A7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIOtrio Rho guanine nucleotide exchange factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| VRK1VRK serine/threonine kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF142zinc finger protein 142 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLR2ARNA polymerase II subunit A | Pole registreeritud | 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.
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 2026.10.17-8666dff2.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast