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Tunnus
Simplified gyral pattern
An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.
Kokkuvõte
- Teised nimetused
- Cortical gyral simplification
- Kehasüsteem
- Abnormality of the nervous system
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Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/simplified-gyral-pattern.json"
page <- fromJSON(url)
page$trait$nameSimplified gyral patternHP:0009879
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Lugege välja geenid, mis on seotud Simplified gyral pattern-ga, ja kogu ülejäänud genoom ühe testiga.
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Telli oma Genome Test95 geeni on seotud tunnusega Simplified gyral pattern
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Simplified gyral pattern. 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 |
|---|---|---|
| ANKLE2ankyrin repeat and LEM domain containing 2 | Alati | Esineb 1 haiguses |
| ASPMassembly factor for spindle microtubules | Alati | Esineb 1 haiguses |
| CASKcalcium/calmodulin dependent serine protein kinase | Alati | Esineb 1 haiguses |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Alati | Esineb 1 haiguses |
| CDK6cyclin dependent kinase 6 | Alati | Esineb 1 haiguses |
| CEP152centrosomal protein 152 | Alati | Esineb 2 haiguses |
| CEP295centrosomal protein 295 | Alati | Esineb 1 haiguses |
| CITcitron rho-interacting serine/threonine kinase | Alati | Esineb 1 haiguses |
| COPB2coat protein complex I subunit beta 2 | Alati | Esineb 2 haiguses |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Alati | Esineb 1 haiguses |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Alati | Esineb 1 haiguses |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Alati | Esineb 1 haiguses |
| FKRPfukutin related protein | Alati | Esineb 1 haiguses |
| FOXG1forkhead box G1 | Alati | Esineb 1 haiguses |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Alati | Esineb 1 haiguses |
| GON4Lgon-4 like | Alati | Esineb 1 haiguses |
| GTF3C3general transcription factor IIIC subunit 3 | Alati | Esineb 1 haiguses |
| GTPBP1GTP binding protein 1 | Alati | Esineb 1 haiguses |
| GTPBP2GTP binding protein 2 | Alati | Esineb 1 haiguses |
| IER3IP1immediate early response 3 interacting protein 1 | Alati | Esineb 1 haiguses |
| INTS11integrator complex subunit 11 | Alati | Esineb 1 haiguses |
| KATNB1katanin regulatory subunit B1 | Alati | Esineb 1 haiguses |
| SNAPINSNAP associated protein | Alati | Esineb 1 haiguses |
| SPOPspeckle type BTB/POZ protein | Alati | Esineb 1 haiguses |
| STAMBPSTAM binding protein | Alati | Esineb 1 haiguses |
| STILSTIL centriolar assembly protein | Alati | Esineb 1 haiguses |
| TRAPPC12trafficking protein particle complex subunit 12 | Alati | Esineb 1 haiguses |
| TSEN2tRNA splicing endonuclease subunit 2 | Alati | Esineb 1 haiguses |
| WDR62WD repeat domain 62 | Alati | Esineb 1 haiguses |
| WWOXWW domain containing oxidoreductase | Alati | Esineb 1 haiguses |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Alati | Esineb 1 haiguses |
| NDE1nudE neurodevelopment protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TTC5tetratricopeptide repeat domain 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZNF335zinc finger protein 335 | Väga sageli (80–99%) | Esineb 2 haiguses |
| AHDC1AT-hook DNA binding motif containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Sageli (30–79%) | Esineb 1 haiguses |
| CDC40cell division cycle 40 | Sageli (30–79%) | Esineb 1 haiguses |
| CDK4cyclin dependent kinase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| CENPEcentromere protein E | Sageli (30–79%) | Esineb 1 haiguses |
| GLSglutaminase | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 55 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| LIPT2lipoyl(octanoyl) transferase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| LMNB1lamin B1 | Sageli (30–79%) | Esineb 1 haiguses |
| LMNB2lamin B2 | Sageli (30–79%) | Esineb 2 haiguses |
| MAST1microtubule associated serine/threonine kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NSRP1nuclear speckle splicing regulatory protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PDCD6IPprogrammed cell death 6 interacting protein | Sageli (30–79%) | Esineb 1 haiguses |
| POGZpogo transposable element derived with ZNF domain | Sageli (30–79%) | Esineb 1 haiguses |
| PPIL1peptidylprolyl isomerase like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMPD4sphingomyelin phosphodiesterase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| TRAIPTRAF interacting protein | Sageli (30–79%) | Esineb 1 haiguses |
| TUBB2Atubulin beta 2A class IIa | Sageli (30–79%) | Esineb 1 haiguses |
| TUBB3tubulin beta 3 class III | Sageli (30–79%) | Esineb 2 haiguses |
| VRK1VRK serine/threonine kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Sageli (30–79%) | Esineb 1 haiguses |
| ZNF526zinc finger protein 526 | Sageli (30–79%) | Esineb 1 haiguses |
| ARID1AAT-rich interaction domain 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARID1BAT-rich interaction domain 1B | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARID2AT-rich interaction domain 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CSNK2A1casein kinase 2 alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CUL4Bcullin 4B | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPF2double PHD fingers 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAM177A1family with sequence similarity 177 member A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FEM1Bfem-1 homolog B | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRPPRCleucine rich pentatricopeptide repeat containing | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED27mediator complex subunit 27 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| PSAT1phosphoserine aminotransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RTTNrotatin | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SONSON DNA and RNA binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| SOX11SRY-box transcription factor 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SOX4SRY-box transcription factor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM222transmembrane protein 222 | Mõnikord (5–29%) | Esineb 1 haiguses |
| WSB2WD repeat and SOCS box containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DONSONDNA replication fork stabilization factor DONSON | Harva (1–4%) | Esineb 2 haiguses |
| C2CD3C2 domain containing 3 centriole elongation regulator | Pole registreeritud | Esineb 1 haiguses |
| DCHS1dachsous cadherin-related 1 | Pole registreeritud | Esineb 1 haiguses |
| EXOC7exocyst complex component 7 | Pole registreeritud | Esineb 1 haiguses |
| GMNNgeminin DNA replication inhibitor | Pole registreeritud | Esineb 1 haiguses |
| KIF11kinesin family member 11 | Pole registreeritud | Esineb 1 haiguses |
| KIF14kinesin family member 14 | Pole registreeritud | Esineb 1 haiguses |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Pole registreeritud | Esineb 1 haiguses |
| OSGEPO-sialoglycoprotein endopeptidase | Pole registreeritud | Esineb 1 haiguses |
| PLK4polo like kinase 4 | Pole registreeritud | Esineb 1 haiguses |
| PNKPpolynucleotide kinase 3'-phosphatase | Pole registreeritud | Esineb 1 haiguses |
| QARS1glutaminyl-tRNA synthetase 1 | Pole registreeritud | Esineb 1 haiguses |
| TUBGCP6tubulin gamma complex component 6 | Pole registreeritud | Esineb 1 haiguses |
| VLDLRvery low density lipoprotein receptor | Pole registreeritud | Esineb 1 haiguses |
| XRCC4X-ray repair cross complementing 4 | 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 2026.10.16-c6eea6bf.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast