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Logi sisseKüsiSekveneeri oma genoom↗
Tunnus
Mild global developmental delay
A mild delay in the achievement of motor or mental milestones in the domains of development of a child.
Kokkuvõte
- Teised nimetused
- Global developmental delay, mild
- 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/mild-global-developmental-delay.json"
page <- fromJSON(url)
page$trait$nameMild global developmental delayHP:0011342
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Lugege välja geenid, mis on seotud Mild global developmental delay-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test113 geeni on seotud tunnusega Mild global developmental delay
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Mild global developmental delay. 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 |
|---|---|---|
| ABCA2ATP binding cassette subfamily A member 2 | Alati | Esineb 1 haiguses |
| ACTBactin beta | Alati | Esineb 2 haiguses |
| AMTaminomethyltransferase | Alati | Esineb 1 haiguses |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Alati | Esineb 1 haiguses |
| ATP5F1BATP synthase F1 subunit beta | Alati | Esineb 1 haiguses |
| CDC6cell division cycle 6 | Alati | Esineb 1 haiguses |
| CENATACcentrosomal AT-AC splicing factor | Alati | Esineb 1 haiguses |
| DHTKD1dehydrogenase E1 and transketolase domain containing 1 | Alati | Esineb 1 haiguses |
| EIF4A2eukaryotic translation initiation factor 4A2 | Alati | Esineb 1 haiguses |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alati | Esineb 1 haiguses |
| ERMARDER membrane associated RNA degradation | Alati | Esineb 1 haiguses |
| FLVCR1FLVCR choline and heme transporter 1 | Alati | Esineb 1 haiguses |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Alati | Esineb 1 haiguses |
| GTF2H4general transcription factor IIH subunit 4 | Alati | Esineb 1 haiguses |
| LRRC7leucine rich repeat containing 7 | Alati | Esineb 1 haiguses |
| NFE2L2NFE2 like bZIP transcription factor 2 | Alati | Esineb 1 haiguses |
| NOTCH3notch receptor 3 | Alati | Esineb 1 haiguses |
| POLR1ARNA polymerase I subunit A | Alati | Esineb 1 haiguses |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Alati | Esineb 1 haiguses |
| PTBP1polypyrimidine tract binding protein 1 | Alati | Esineb 1 haiguses |
| RAI1retinoic acid induced 1 | Alati | Esineb 1 haiguses |
| SGSM3small G protein signaling modulator 3 | Alati | Esineb 1 haiguses |
| TMEM163transmembrane protein 163 | Alati | Esineb 1 haiguses |
| ATRATR checkpoint kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATRIPATR interacting protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| CENPEcentromere protein E | Väga sageli (80–99%) | Esineb 1 haiguses |
| CEP152centrosomal protein 152 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CEP295centrosomal protein 295 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CEP63centrosomal protein 63 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CPAPcentrosome assembly and centriole elongation protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| DNA2DNA replication helicase/nuclease 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MCM4minichromosome maintenance complex component 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Väga sageli (80–99%) | Esineb 1 haiguses |
| NINninein | Väga sageli (80–99%) | Esineb 1 haiguses |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Väga sageli (80–99%) | Esineb 1 haiguses |
| NUP85nucleoporin 85 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PCNTpericentrin | Väga sageli (80–99%) | Esineb 1 haiguses |
| PLK4polo like kinase 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Väga sageli (80–99%) | Esineb 1 haiguses |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Väga sageli (80–99%) | Esineb 1 haiguses |
Näita veel 73 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RBBP8RB binding protein 8, endonuclease | Väga sageli (80–99%) | Esineb 2 haiguses |
| TBX4T-box transcription factor 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRAIPTRAF interacting protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ABCC8ATP binding cassette subfamily C member 8 | Sageli (30–79%) | Esineb 1 haiguses |
| ASPAaspartoacylase | Sageli (30–79%) | Esineb 1 haiguses |
| CDH2cadherin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DHRS3dehydrogenase/reductase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| DOLKdolichol kinase | Sageli (30–79%) | Esineb 1 haiguses |
| GJA1gap junction protein alpha 1 | Sageli (30–79%) | Esineb 2 haiguses |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNK3potassium two pore domain channel subfamily K member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| KDM2Blysine demethylase 2B | Sageli (30–79%) | Esineb 1 haiguses |
| MAP1Bmicrotubule associated protein 1B | Sageli (30–79%) | Esineb 1 haiguses |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Sageli (30–79%) | Esineb 1 haiguses |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PEPDpeptidase D | Sageli (30–79%) | Esineb 1 haiguses |
| RPS6KC1ribosomal protein S6 kinase C1 | Sageli (30–79%) | Esineb 1 haiguses |
| SF3B2splicing factor 3b subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SNF8SNF8 subunit of ESCRT-II | Sageli (30–79%) | Esineb 1 haiguses |
| TOP3ADNA topoisomerase III alpha | Sageli (30–79%) | Esineb 1 haiguses |
| TPP2tripeptidyl peptidase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| WDR26WD repeat domain 26 | Sageli (30–79%) | Esineb 1 haiguses |
| AASSaminoadipate-semialdehyde synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACAD8acyl-CoA dehydrogenase family member 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADNPactivity dependent neuroprotector homeobox | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALBalbumin | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALMS1ALMS1 centrosome and basal body associated protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| B4GALT7beta-1,4-galactosyltransferase 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CABP4calcium binding protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COG1component of oligomeric golgi complex 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CTNNB1catenin beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTSKcathepsin K | Mõnikord (5–29%) | Esineb 1 haiguses |
| DBR1debranching RNA lariats 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DOT1LDOT1 like histone lysine methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FTCDformimidoyltransferase cyclodeaminase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FZD4frizzled class receptor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IARS1isoleucyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LCA5lebercilin LCA5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRATlecithin retinol acyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRP5LDL receptor related protein 5 | Mõnikord (5–29%) | Esineb 2 haiguses |
| NDPnorrin cystine knot growth factor NDP | Mõnikord (5–29%) | Esineb 1 haiguses |
| OTX2orthodenticle homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PHKBphosphorylase kinase regulatory subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLCB4phospholipase C beta 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLP1proteolipid protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLRMTRNA polymerase mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRPH2peripherin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTF1Apancreas associated transcription factor 1a | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU5B-1RNA, U5B small nuclear 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPE65retinoid isomerohydrolase RPE65 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RRAS2RAS related 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEC61A1SEC61 translocon subunit alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIX1SIX homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SOX3SRY-box transcription factor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SOX9SRY-box transcription factor 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPATA7spermatogenesis associated 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TANGO2transport and golgi organization 2 homolog | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX2T-box transcription factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TSPAN12tetraspanin 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF408zinc finger protein 408 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RCC1regulator of chromosome condensation 1 | Harva (1–4%) | Esineb 1 haiguses |
| TCF12transcription factor 12 | Harva (1–4%) | Esineb 1 haiguses |
| NONOnon-POU domain containing octamer binding | Pole registreeritud | Esineb 1 haiguses |
| NSMCE3NSE3 component of SMC5/6 complex | Pole registreeritud | Esineb 1 haiguses |
| RNF168ring finger protein 168 | Pole registreeritud | Esineb 1 haiguses |
| ZNF462zinc finger protein 462 | 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