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Požymis
Triangular face
Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
Santrauka
- Taip pat vadinama
- Face with broad temples and narrow chin, Triangular facial shape, Inverted triangular face, Triangular facies
- Kūno sistema
- Abnormality of head or neck
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/triangular-face.json"
page <- fromJSON(url)
page$trait$nameTriangular faceHP:0000325
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Triangular face, ir kitą jūsų genomo dalį.
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Įsigyti savo Genome Test189 genų susiję su Triangular face
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Triangular face. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Visada | 2 ligose |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Visada | 1 ligoje |
| ANKRD11ankyrin repeat domain 11 | Visada | 3 ligose |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Visada | 1 ligoje |
| BUD13BUD13 spliceosome associated protein | Visada | 1 ligoje |
| CAV1caveolin 1 | Visada | 1 ligoje |
| CDC6cell division cycle 6 | Visada | 1 ligoje |
| CEP57centrosomal protein 57 | Visada | 2 ligose |
| DHRS3dehydrogenase/reductase 3 | Visada | 1 ligoje |
| DONSONDNA replication fork stabilization factor DONSON | Visada | 1 ligoje |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Visada | 1 ligoje |
| EMC10ER membrane protein complex subunit 10 | Visada | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Visada | 1 ligoje |
| ERI1exoribonuclease 1 | Visada | 1 ligoje |
| ESAMendothelial cell adhesion molecule | Visada | 1 ligoje |
| FANCCFA complementation group C | Visada | 1 ligoje |
| FANCIFA complementation group I | Visada | 1 ligoje |
| FBN1fibrillin 1 | Visada | 1 ligoje |
| FLNAfilamin A | Visada | 1 ligoje |
| GMPPAGDP-mannose pyrophosphorylase A | Visada | 1 ligoje |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Visada | 2 ligose |
| HMGA2high mobility group AT-hook 2 | Visada | 3 ligose |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Visada | 1 ligoje |
| INTS11integrator complex subunit 11 | Visada | 1 ligoje |
| JAG1jagged canonical Notch ligand 1 | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Visada | 2 ligose |
| MAFBMAF bZIP transcription factor B | Visada | 2 ligose |
| MED12mediator complex subunit 12 | Visada | 2 ligose |
| MED16mediator complex subunit 16 | Visada | 1 ligoje |
| MYOD1myogenic differentiation 1 | Visada | 1 ligoje |
| PAPPA2pappalysin 2 | Visada | 1 ligoje |
| PEX1peroxisomal biogenesis factor 1 | Visada | 1 ligoje |
| PEX14peroxisomal biogenesis factor 14 | Visada | 1 ligoje |
| PEX19peroxisomal biogenesis factor 19 | Visada | 1 ligoje |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Visada | 2 ligose |
| PLAG1PLAG1 zinc finger | Visada | 2 ligose |
| POC1APOC1 centriolar protein A | Visada | 1 ligoje |
| POLR3ARNA polymerase III subunit A | Visada | 2 ligose |
| PPFIA3PPFI scaffold protein A3 | Visada | 1 ligoje |
Rodyti dar 149 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| PPIBpeptidylprolyl isomerase B | Visada | 1 ligoje |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Visada | 1 ligoje |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Visada | 1 ligoje |
| RPL17ribosomal protein L17 | Visada | 1 ligoje |
| SCARF2scavenger receptor class F member 2 | Visada | 2 ligose |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Visada | 1 ligoje |
| SEC31ASEC31 homolog A, COPII component | Visada | 1 ligoje |
| SERPINH1serpin family H member 1 | Visada | 1 ligoje |
| SLC25A24solute carrier family 25 member 24 | Visada | 1 ligoje |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Visada | 2 ligose |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Visada | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Visada | 1 ligoje |
| SPOUT1SPOUT domain containing methyltransferase 1 | Visada | 1 ligoje |
| SPRTNSprT-like N-terminal domain | Visada | 1 ligoje |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Visada | 1 ligoje |
| TMEM94transmembrane protein 94 | Visada | 1 ligoje |
| TOMM7translocase of outer mitochondrial membrane 7 | Visada | 1 ligoje |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Visada | 1 ligoje |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Visada | 1 ligoje |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Labai dažnai (80–99%) | 1 ligoje |
| ARXaristaless related homeobox | Labai dažnai (80–99%) | 2 ligose |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Labai dažnai (80–99%) | 3 ligose |
| CBLCbl proto-oncogene | Labai dažnai (80–99%) | 2 ligose |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Labai dažnai (80–99%) | 2 ligose |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Labai dažnai (80–99%) | 1 ligoje |
| CUL7cullin 7 | Labai dažnai (80–99%) | 2 ligose |
| H19H19 imprinted maternally expressed transcript | Labai dažnai (80–99%) | 2 ligose |
| IGF2insulin like growth factor 2 | Labai dažnai (80–99%) | 5 ligose |
| KAT6Alysine acetyltransferase 6A | Labai dažnai (80–99%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| LZTR1leucine zipper like post translational regulator 1 | Labai dažnai (80–99%) | 1 ligoje |
| MRASmuscle RAS oncogene homolog | Labai dažnai (80–99%) | 1 ligoje |
| MVKmevalonate kinase | Labai dažnai (80–99%) | 2 ligose |
| NRASNRAS proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| OBSL1obscurin like cytoskeletal adaptor 1 | Labai dažnai (80–99%) | 2 ligose |
| PQBP1polyglutamine binding protein 1 | Labai dažnai (80–99%) | 2 ligose |
| PTF1Apancreas associated transcription factor 1a | Labai dažnai (80–99%) | 2 ligose |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Labai dažnai (80–99%) | 4 ligose |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Labai dažnai (80–99%) | 2 ligose |
| RASA2RAS p21 protein activator 2 | Labai dažnai (80–99%) | 1 ligoje |
| RIT1Ras like without CAAX 1 | Labai dažnai (80–99%) | 1 ligoje |
| RRASRAS related | Labai dažnai (80–99%) | 1 ligoje |
| RRAS2RAS related 2 | Labai dažnai (80–99%) | 1 ligoje |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| SPRED2sprouty related EVH1 domain containing 2 | Labai dažnai (80–99%) | 2 ligose |
| SRCAPSnf2 related CREBBP activator protein | Labai dažnai (80–99%) | 2 ligose |
| TRIM37tripartite motif containing 37 | Labai dažnai (80–99%) | 1 ligoje |
| TRPS1transcriptional repressor GATA binding 1 | Labai dažnai (80–99%) | 1 ligoje |
| ANKRD17ankyrin repeat domain 17 | Dažnai (30–79%) | 1 ligoje |
| ATP6V1AATPase H+ transporting V1 subunit A | Dažnai (30–79%) | 1 ligoje |
| B9D1B9 domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| BMP1bone morphogenetic protein 1 | Dažnai (30–79%) | 1 ligoje |
| BPTFbromodomain PHD finger transcription factor | Dažnai (30–79%) | 1 ligoje |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Dažnai (30–79%) | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Dažnai (30–79%) | 1 ligoje |
| BUB3BUB3 mitotic checkpoint protein | Dažnai (30–79%) | 1 ligoje |
| CDK10cyclin dependent kinase 10 | Dažnai (30–79%) | 1 ligoje |
| EBF3EBF transcription factor 3 | Dažnai (30–79%) | 2 ligose |
| FBXO22F-box protein 22 | Dažnai (30–79%) | 1 ligoje |
| FKBP10FKBP prolyl isomerase 10 | Dažnai (30–79%) | 2 ligose |
| FRA10AC1FRA10A associated CGG repeat 1 | Dažnai (30–79%) | 1 ligoje |
| GRB10growth factor receptor bound protein 10 | Dažnai (30–79%) | 1 ligoje |
| IFITM5interferon induced transmembrane protein 5 | Dažnai (30–79%) | 1 ligoje |
| LEMD2LEM domain nuclear envelope protein 2 | Dažnai (30–79%) | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Dažnai (30–79%) | 1 ligoje |
| MCTP2multiple C2 and transmembrane domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| NFIXnuclear factor I X | Dažnai (30–79%) | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Dažnai (30–79%) | 1 ligoje |
| PAX7paired box 7 | Dažnai (30–79%) | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Dažnai (30–79%) | 2 ligose |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Dažnai (30–79%) | 1 ligoje |
| PRKG2protein kinase cGMP-dependent 2 | Dažnai (30–79%) | 2 ligose |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Dažnai (30–79%) | 1 ligoje |
| PUS7pseudouridine synthase 7 | Dažnai (30–79%) | 1 ligoje |
| PYCR1pyrroline-5-carboxylate reductase 1 | Dažnai (30–79%) | 2 ligose |
| RAI1retinoic acid induced 1 | Dažnai (30–79%) | 3 ligose |
| TBX2T-box transcription factor 2 | Dažnai (30–79%) | 1 ligoje |
| TRIP13thyroid hormone receptor interactor 13 | Dažnai (30–79%) | 1 ligoje |
| TRMT5tRNA methyltransferase 5 | Dažnai (30–79%) | 1 ligoje |
| ZNF148zinc finger protein 148 | Dažnai (30–79%) | 1 ligoje |
| ADGRG6adhesion G protein-coupled receptor G6 | Kartais (5–29%) | 1 ligoje |
| BRPF1bromodomain and PHD finger containing 1 | Kartais (5–29%) | 1 ligoje |
| DCAF17DDB1 and CUL4 associated factor 17 | Kartais (5–29%) | 2 ligose |
| ELNelastin | Kartais (5–29%) | 1 ligoje |
| FBLN5fibulin 5 | Kartais (5–29%) | 1 ligoje |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| FILIP1filamin A interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| FOCADfocadhesin | Kartais (5–29%) | 1 ligoje |
| H4C5H4 clustered histone 5 | Kartais (5–29%) | 1 ligoje |
| JARID2jumonji and AT-rich interaction domain containing 2 | Kartais (5–29%) | 1 ligoje |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Kartais (5–29%) | 2 ligose |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Kartais (5–29%) | 1 ligoje |
| LEMD3LEM domain containing 3 | Kartais (5–29%) | 1 ligoje |
| MED12Lmediator complex subunit 12L | Kartais (5–29%) | 1 ligoje |
| MED13Lmediator complex subunit 13L | Kartais (5–29%) | 2 ligose |
| MTX2metaxin 2 | Kartais (5–29%) | 1 ligoje |
| NONOnon-POU domain containing octamer binding | Kartais (5–29%) | 1 ligoje |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Kartais (5–29%) | 1 ligoje |
| PYCR2pyrroline-5-carboxylate reductase 2 | Kartais (5–29%) | 2 ligose |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| SEC61A1SEC61 translocon subunit alpha 1 | Kartais (5–29%) | 1 ligoje |
| SETD5SET domain containing 5 | Kartais (5–29%) | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Kartais (5–29%) | 1 ligoje |
| SMC5structural maintenance of chromosomes 5 | Kartais (5–29%) | 1 ligoje |
| SOX6SRY-box transcription factor 6 | Kartais (5–29%) | 1 ligoje |
| SPOPspeckle type BTB/POZ protein | Kartais (5–29%) | 1 ligoje |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Kartais (5–29%) | 1 ligoje |
| TAOK1TAO kinase 1 | Kartais (5–29%) | 1 ligoje |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Kartais (5–29%) | 1 ligoje |
| WDR83OSWD repeat domain 83 opposite strand | Kartais (5–29%) | 1 ligoje |
| ZMYM2zinc finger MYM-type containing 2 | Kartais (5–29%) | 1 ligoje |
| ZNF699zinc finger protein 699 | Kartais (5–29%) | 1 ligoje |
| BSNDbarttin CLCNK type accessory subunit beta | Retai (1–4 %) | 1 ligoje |
| CLCNKAchloride voltage-gated channel Ka | Retai (1–4 %) | 1 ligoje |
| CLCNKBchloride voltage-gated channel Kb | Retai (1–4 %) | 1 ligoje |
| CTCFCCCTC-binding factor | Retai (1–4 %) | 1 ligoje |
| EPG5ectopic P-granules 5 autophagy tethering factor | Retai (1–4 %) | 1 ligoje |
| GJA5gap junction protein alpha 5 | Retai (1–4 %) | 1 ligoje |
| GJA8gap junction protein alpha 8 | Retai (1–4 %) | 1 ligoje |
| MSL2MSL complex subunit 2 | Retai (1–4 %) | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Retai (1–4 %) | 1 ligoje |
| TNNT3troponin T3, fast skeletal type | Retai (1–4 %) | 1 ligoje |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Neužfiksuota | 1 ligoje |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Neužfiksuota | 1 ligoje |
| COL1A1collagen type I alpha 1 chain | Neužfiksuota | 1 ligoje |
| COL1A2collagen type I alpha 2 chain | Neužfiksuota | 1 ligoje |
| FLCNfolliculin | Neužfiksuota | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Neužfiksuota | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Neužfiksuota | 1 ligoje |
| IGF1Rinsulin like growth factor 1 receptor | Neužfiksuota | 1 ligoje |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Neužfiksuota | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Neužfiksuota | 1 ligoje |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Neužfiksuota | 1 ligoje |
| MYH3myosin heavy chain 3 | Neužfiksuota | 1 ligoje |
| NALCNsodium leak channel, non-selective | Neužfiksuota | 1 ligoje |
| NECTIN1nectin cell adhesion molecule 1 | Neužfiksuota | 1 ligoje |
| NOTCH2notch receptor 2 | Neužfiksuota | 1 ligoje |
| ORC6origin recognition complex subunit 6 | Neužfiksuota | 1 ligoje |
| PEX13peroxisomal biogenesis factor 13 | Neužfiksuota | 1 ligoje |
| SEC24DSEC24 homolog D, COPII component | Neužfiksuota | 1 ligoje |
| SLC45A1solute carrier family 45 member 1 | Neužfiksuota | 1 ligoje |
| SPRED1sprouty related EVH1 domain containing 1 | Neužfiksuota | 1 ligoje |
| STAG2STAG2 cohesin complex component | Neužfiksuota | 1 ligoje |
| TALDO1transaldolase 1 | Neužfiksuota | 1 ligoje |
| TNNI2troponin I2, fast skeletal type | Neužfiksuota | 1 ligoje |
| UNC80unc-80 subunit of NALCN channel complex | Neužfiksuota | 1 ligoje |
| XRCC4X-ray repair cross complementing 4 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.17-8666dff2.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites