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Tunnus
Decreased volume of lip
Kliiniline nimetus: Thin vermilion border
Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).
Kokkuvõte
- Teised nimetused
- Thin lips, Decreased volume of lip vermillion, Thin vermillion
- Kehasüsteem
- Abnormality of head or neck
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This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/thin-vermilion-border.json"
page <- fromJSON(url)
page$trait$nameDecreased volume of lipHP:0000233
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Logi sisseKüsiAlustaalates 449 $
Lugege välja geenid, mis on seotud Decreased volume of lip-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test143 geeni on seotud tunnusega Decreased volume of lip
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Decreased volume of lip. 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 |
|---|---|---|
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Alati | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Alati | Esineb 2 haiguses |
| DNMT3ADNA methyltransferase 3 alpha | Alati | Esineb 1 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Alati | Esineb 2 haiguses |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Alati | Esineb 1 haiguses |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Alati | Esineb 1 haiguses |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| KDM6Alysine demethylase 6A | Alati | Esineb 1 haiguses |
| KMT2Dlysine methyltransferase 2D | Alati | Esineb 1 haiguses |
| LIFRLIF receptor subunit alpha | Alati | Esineb 1 haiguses |
| MAPKAPK5MAPK activated protein kinase 5 | Alati | Esineb 1 haiguses |
| MAU2MAU2 sister chromatid cohesion factor | Alati | Esineb 2 haiguses |
| METTL23methyltransferase 23, arginine | Alati | Esineb 1 haiguses |
| NEXMIFneurite extension and migration factor | Alati | Esineb 1 haiguses |
| NSD2nuclear receptor binding SET domain protein 2 | Alati | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alati | Esineb 1 haiguses |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Alati | Esineb 1 haiguses |
| PRMT7protein arginine methyltransferase 7 | Alati | Esineb 2 haiguses |
| PYCR1pyrroline-5-carboxylate reductase 1 | Alati | Esineb 1 haiguses |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Alati | Esineb 1 haiguses |
| SCYL2SCY1 like pseudokinase 2 | Alati | Esineb 1 haiguses |
| SMC3structural maintenance of chromosomes 3 | Alati | Esineb 2 haiguses |
| TBL1XR1TBL1X/Y related 1 | Alati | Esineb 2 haiguses |
| TM2D3TM2 domain containing 3 | Alati | Esineb 1 haiguses |
| UBE2Aubiquitin conjugating enzyme E2 A | Alati | Esineb 2 haiguses |
| ACTBactin beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| ACTG1actin gamma 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BRD4bromodomain containing 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FMR1fragile X messenger ribonucleoprotein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HDAC8histone deacetylase 8 | Väga sageli (80–99%) | Esineb 2 haiguses |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Väga sageli (80–99%) | Esineb 1 haiguses |
| LMNAlamin A/C | Väga sageli (80–99%) | Esineb 2 haiguses |
| LMX1BLIM homeobox transcription factor 1 beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| MYMKmyomaker, myoblast fusion factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| MYMXmyomixer, myoblast fusion factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| NBASNBAS subunit of NRZ tethering complex | Väga sageli (80–99%) | Esineb 1 haiguses |
| NIPBLNIPBL cohesin loading factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAD21RAD21 cohesin complex component | Väga sageli (80–99%) | Esineb 2 haiguses |
| SEC23ASEC23 homolog A, COPII component | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMAD4SMAD family member 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
Näita veel 103 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Väga sageli (80–99%) | Esineb 1 haiguses |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Väga sageli (80–99%) | Esineb 1 haiguses |
| STXBP1syntaxin binding protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBCEtubulin folding cofactor E | Väga sageli (80–99%) | Esineb 2 haiguses |
| ZBTB18zinc finger and BTB domain containing 18 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZMPSTE24zinc metallopeptidase STE24 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| ACSL4acyl-CoA synthetase long chain family member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| AMMECR1AMMECR nuclear protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BANF1barrier to autointegration nuclear assembly factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BMP1bone morphogenetic protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CAMTA1calmodulin binding transcription activator 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CD96CD96 molecule | Sageli (30–79%) | Esineb 1 haiguses |
| CDH11cadherin 11 | Sageli (30–79%) | Esineb 1 haiguses |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Sageli (30–79%) | Esineb 1 haiguses |
| COL3A1collagen type III alpha 1 chain | Sageli (30–79%) | Esineb 3 haiguses |
| FLT4fms related receptor tyrosine kinase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| GATA4GATA binding protein 4 | Sageli (30–79%) | Esineb 2 haiguses |
| GATA5GATA binding protein 5 | Sageli (30–79%) | Esineb 1 haiguses |
| GATA6GATA binding protein 6 | Sageli (30–79%) | Esineb 1 haiguses |
| GDF1growth differentiation factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GJA5gap junction protein alpha 5 | Sageli (30–79%) | Esineb 2 haiguses |
| GLULglutamate-ammonia ligase | Sageli (30–79%) | Esineb 1 haiguses |
| GRB10growth factor receptor bound protein 10 | Sageli (30–79%) | Esineb 1 haiguses |
| HDAC4histone deacetylase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| IGF1Rinsulin like growth factor 1 receptor | Sageli (30–79%) | Esineb 1 haiguses |
| JAG1jagged canonical Notch ligand 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Sageli (30–79%) | Esineb 1 haiguses |
| KDM5Blysine demethylase 5B | Sageli (30–79%) | Esineb 1 haiguses |
| KDRkinase insert domain receptor | Sageli (30–79%) | Esineb 1 haiguses |
| LIG4DNA ligase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| MPDU1mannose-P-dolichol utilization defect 1 | Sageli (30–79%) | Esineb 2 haiguses |
| NKX2-5NK2 homeobox 5 | Sageli (30–79%) | Esineb 1 haiguses |
| NKX2-6NK2 homeobox 6 | Sageli (30–79%) | Esineb 1 haiguses |
| NOTCH2notch receptor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Sageli (30–79%) | Esineb 2 haiguses |
| POGZpogo transposable element derived with ZNF domain | Sageli (30–79%) | Esineb 1 haiguses |
| POLR3ARNA polymerase III subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| PYCR2pyrroline-5-carboxylate reductase 2 | Sageli (30–79%) | Esineb 2 haiguses |
| RECQLRecQ like helicase | Sageli (30–79%) | Esineb 1 haiguses |
| RPS23ribosomal protein S23 | Sageli (30–79%) | Esineb 1 haiguses |
| SATB2SATB homeobox 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SONSON DNA and RNA binding protein | Sageli (30–79%) | Esineb 2 haiguses |
| TBX1T-box transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TSHZ3teashirt zinc finger homeobox 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TXNL4Athioredoxin like 4A | Sageli (30–79%) | Esineb 1 haiguses |
| UBE3Bubiquitin protein ligase E3B | Sageli (30–79%) | Esineb 1 haiguses |
| VAC14VAC14 component of PIKFYVE complex | Sageli (30–79%) | Esineb 1 haiguses |
| WDR19WD repeat domain 19 | Sageli (30–79%) | Esineb 1 haiguses |
| ZFPM2zinc finger protein, FOG family member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ADNPactivity dependent neuroprotector homeobox | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS2Bardet-Biedl syndrome 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRPF1bromodomain and PHD finger containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDK13cyclin dependent kinase 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CKAP2Lcytoskeleton associated protein 2L | Mõnikord (5–29%) | Esineb 2 haiguses |
| COG3component of oligomeric golgi complex 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COG8component of oligomeric golgi complex 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EVCEvC ciliary complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EVC2EvC ciliary complex subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GJA8gap junction protein alpha 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLI1GLI family zinc finger 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HMGA2high mobility group AT-hook 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM2Blysine demethylase 2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF7kinesin family member 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LEMD3LEM domain containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MSL2MSL complex subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYL11myosin light chain 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDPnorrin cystine knot growth factor NDP | Mõnikord (5–29%) | Esineb 1 haiguses |
| NF1neurofibromin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRORPprotein only RNase P catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| RECQL4RecQ like helicase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEPHS1selenophosphate synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SETD5SET domain containing 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMOC1SPARC related modular calcium binding 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMPD4sphingomyelin phosphodiesterase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPOPspeckle type BTB/POZ protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTI2TELO2 interacting protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TWIST2twist family bHLH transcription factor 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| XYLT2xylosyltransferase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Pole registreeritud | Esineb 1 haiguses |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Pole registreeritud | Esineb 1 haiguses |
| B3GLCTbeta 3-glucosyltransferase | Pole registreeritud | Esineb 1 haiguses |
| BRAT1BRCA1 associated ATM activator 1 | Pole registreeritud | Esineb 1 haiguses |
| DDRGK1DDRGK domain containing 1 | Pole registreeritud | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Pole registreeritud | Esineb 1 haiguses |
| GJA1gap junction protein alpha 1 | Pole registreeritud | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Pole registreeritud | Esineb 1 haiguses |
| PDGFRBplatelet derived growth factor receptor beta | Pole registreeritud | Esineb 1 haiguses |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Pole registreeritud | Esineb 1 haiguses |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| RUNX2RUNX family transcription factor 2 | Pole registreeritud | Esineb 1 haiguses |
| SLC45A1solute carrier family 45 member 1 | Pole registreeritud | Esineb 1 haiguses |
| TALDO1transaldolase 1 | 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.
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 2026.10.16-c6eea6bf.
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast