AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymis
Short nose
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Santrauka
- Taip pat vadinama
- Decreased length of nose, Shortened nose, Small nose, Hypoplastic nose, Nasal hypoplasia
- 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/short-nose.json"
page <- fromJSON(url)
page$trait$nameShort noseHP:0003196
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Short nose, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test337 genų susiję su Short nose
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Short nose. 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 |
|---|---|---|
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Visada | 1 ligoje |
| ANTXR1ANTXR cell adhesion molecule 1 | Visada | 1 ligoje |
| BMP2bone morphogenetic protein 2 | Visada | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Visada | 2 ligose |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Visada | 1 ligoje |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Visada | 1 ligoje |
| CEP57centrosomal protein 57 | Visada | 1 ligoje |
| CHST14carbohydrate sulfotransferase 14 | Visada | 2 ligose |
| CILK1ciliogenesis associated kinase 1 | Visada | 1 ligoje |
| COL11A1collagen type XI alpha 1 chain | Visada | 3 ligose |
| COL11A2collagen type XI alpha 2 chain | Visada | 1 ligoje |
| DCPSdecapping enzyme, scavenger | Visada | 1 ligoje |
| DNMT3BDNA methyltransferase 3 beta | Visada | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Visada | 3 ligose |
| DVL3dishevelled segment polarity protein 3 | Visada | 2 ligose |
| ECE1endothelin converting enzyme 1 | Visada | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | Visada | 2 ligose |
| FGFR1fibroblast growth factor receptor 1 | Visada | 5 ligose |
| GTF3C3general transcription factor IIIC subunit 3 | Visada | 1 ligoje |
| HOXB1homeobox B1 | Visada | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| INPPL1inositol polyphosphate phosphatase like 1 | Visada | 2 ligose |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KDM6Alysine demethylase 6A | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Visada | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Visada | 4 ligose |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Visada | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Visada | 2 ligose |
| MAP2K2mitogen-activated protein kinase kinase 2 | Visada | 2 ligose |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| MIR140microRNA 140 | Visada | 1 ligoje |
| MN1MN1 proto-oncogene, transcriptional regulator | Visada | 1 ligoje |
| MTORmechanistic target of rapamycin kinase | Visada | 1 ligoje |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Visada | 1 ligoje |
| MYH3myosin heavy chain 3 | Visada | 1 ligoje |
| NALCNsodium leak channel, non-selective | Visada | 1 ligoje |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Visada | 1 ligoje |
| PAK3p21 (RAC1) activated kinase 3 | Visada | 1 ligoje |
| PDE4Dphosphodiesterase 4D | Visada | 3 ligose |
Rodyti dar 297 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| PGAP3post-GPI attachment to proteins phospholipase 3 | Visada | 1 ligoje |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Visada | 1 ligoje |
| PLCB3phospholipase C beta 3 | Visada | 1 ligoje |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Visada | 1 ligoje |
| POLR1ARNA polymerase I subunit A | Visada | 2 ligose |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Visada | 1 ligoje |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Visada | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Visada | 2 ligose |
| RAC3Rac family small GTPase 3 | Visada | 1 ligoje |
| RBSNrabenosyn, RAB effector | Visada | 1 ligoje |
| RIPK4receptor interacting serine/threonine kinase 4 | Visada | 2 ligose |
| ROR2ROR family WNT receptor 2 | Visada | 2 ligose |
| RPS6KA3ribosomal protein S6 kinase A3 | Visada | 1 ligoje |
| RSPRY1ring finger and SPRY domain containing 1 | Visada | 2 ligose |
| SLC13A1solute carrier family 13 member 1 | Visada | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Visada | 2 ligose |
| SONSON DNA and RNA binding protein | Visada | 2 ligose |
| TMCO1transmembrane and coiled-coil domains 1 | Visada | 2 ligose |
| TOP2BDNA topoisomerase II beta | Visada | 1 ligoje |
| TRIP11thyroid hormone receptor interactor 11 | Visada | 3 ligose |
| VPS53VPS53 subunit of GARP complex | Visada | 1 ligoje |
| WNT5AWnt family member 5A | Visada | 2 ligose |
| ZMPSTE24zinc metallopeptidase STE24 | Visada | 2 ligose |
| ZPR1ZPR1 zinc finger | Visada | 1 ligoje |
| ADSLadenylosuccinate lyase | Labai dažnai (80–99%) | 2 ligose |
| AGAaspartylglucosaminidase | Labai dažnai (80–99%) | 1 ligoje |
| ARSLarylsulfatase L | Labai dažnai (80–99%) | 2 ligose |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Labai dažnai (80–99%) | 2 ligose |
| ATP6V1AATPase H+ transporting V1 subunit A | Labai dažnai (80–99%) | 1 ligoje |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Labai dažnai (80–99%) | 1 ligoje |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Labai dažnai (80–99%) | 1 ligoje |
| BRD4bromodomain containing 4 | Labai dažnai (80–99%) | 2 ligose |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Labai dažnai (80–99%) | 1 ligoje |
| CD96CD96 molecule | Labai dažnai (80–99%) | 2 ligose |
| CLIP2CAP-Gly domain containing linker protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Labai dažnai (80–99%) | 1 ligoje |
| DDX3XDEAD-box helicase 3 X-linked | Labai dažnai (80–99%) | 1 ligoje |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Labai dažnai (80–99%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Labai dažnai (80–99%) | 1 ligoje |
| DSEdermatan sulfate epimerase | Labai dažnai (80–99%) | 2 ligose |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Labai dažnai (80–99%) | 2 ligose |
| EHMT1euchromatic histone lysine methyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Labai dažnai (80–99%) | 1 ligoje |
| ELNelastin | Labai dažnai (80–99%) | 2 ligose |
| FBN1fibrillin 1 | Labai dažnai (80–99%) | 3 ligose |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Labai dažnai (80–99%) | 4 ligose |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Labai dažnai (80–99%) | 1 ligoje |
| FLNAfilamin A | Labai dažnai (80–99%) | 2 ligose |
| FZD2frizzled class receptor 2 | Labai dažnai (80–99%) | 2 ligose |
| GTF2Igeneral transcription factor IIi | Labai dažnai (80–99%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Labai dažnai (80–99%) | 1 ligoje |
| HDAC6histone deacetylase 6 | Labai dažnai (80–99%) | 2 ligose |
| HDAC8histone deacetylase 8 | Labai dažnai (80–99%) | 1 ligoje |
| HIC1HIC ZBTB transcriptional repressor 1 | Labai dažnai (80–99%) | 1 ligoje |
| LIMK1LIM domain kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| LONP1lon peptidase 1, mitochondrial | Labai dažnai (80–99%) | 1 ligoje |
| LRP2LDL receptor related protein 2 | Labai dažnai (80–99%) | 2 ligose |
| LTBP3latent transforming growth factor beta binding protein 3 | Labai dažnai (80–99%) | 2 ligose |
| MAFMAF bZIP transcription factor | Labai dažnai (80–99%) | 2 ligose |
| MAU2MAU2 sister chromatid cohesion factor | Labai dažnai (80–99%) | 1 ligoje |
| METTL27methyltransferase like 27 | Labai dažnai (80–99%) | 1 ligoje |
| MYMKmyomaker, myoblast fusion factor | Labai dažnai (80–99%) | 1 ligoje |
| MYMXmyomixer, myoblast fusion factor | Labai dažnai (80–99%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| NEXMIFneurite extension and migration factor | Labai dažnai (80–99%) | 2 ligose |
| NIPBLNIPBL cohesin loading factor | Labai dažnai (80–99%) | 2 ligose |
| NXNnucleoredoxin | Labai dažnai (80–99%) | 2 ligose |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| PAX3paired box 3 | Labai dažnai (80–99%) | 3 ligose |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Labai dažnai (80–99%) | 1 ligoje |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Labai dažnai (80–99%) | 1 ligoje |
| PTH1Rparathyroid hormone 1 receptor | Labai dažnai (80–99%) | 1 ligoje |
| RAB18RAB18, member RAS oncogene family | Labai dažnai (80–99%) | 2 ligose |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| RAD21RAD21 cohesin complex component | Labai dažnai (80–99%) | 2 ligose |
| RFC2replication factor C subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| SETBP1SET binding protein 1 | Labai dažnai (80–99%) | 2 ligose |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Labai dažnai (80–99%) | 1 ligoje |
| SLC26A2solute carrier family 26 member 2 | Labai dažnai (80–99%) | 1 ligoje |
| SMC3structural maintenance of chromosomes 3 | Labai dažnai (80–99%) | 1 ligoje |
| STX1Asyntaxin 1A | Labai dažnai (80–99%) | 1 ligoje |
| TBC1D20TBC1 domain family member 20 | Labai dažnai (80–99%) | 1 ligoje |
| TBL2transducin beta like 2 | Labai dažnai (80–99%) | 1 ligoje |
| TCTN3tectonic family member 3 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM94transmembrane protein 94 | Labai dažnai (80–99%) | 1 ligoje |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Labai dažnai (80–99%) | 1 ligoje |
| VPS37DVPS37D subunit of ESCRT-I | Labai dažnai (80–99%) | 1 ligoje |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Labai dažnai (80–99%) | 2 ligose |
| ZNHIT3zinc finger HIT-type containing 3 | Labai dažnai (80–99%) | 2 ligose |
| ADAMTSL2ADAMTS like 2 | Dažnai (30–79%) | 2 ligose |
| ADNPactivity dependent neuroprotector homeobox | Dažnai (30–79%) | 1 ligoje |
| AFF4ALF transcription elongation factor 4 | Dažnai (30–79%) | 2 ligose |
| ARID1AAT-rich interaction domain 1A | Dažnai (30–79%) | 1 ligoje |
| ARID1BAT-rich interaction domain 1B | Dažnai (30–79%) | 1 ligoje |
| ARID2AT-rich interaction domain 2 | Dažnai (30–79%) | 2 ligose |
| ASXL3ASXL transcriptional regulator 3 | Dažnai (30–79%) | 1 ligoje |
| B3GALT6beta-1,3-galactosyltransferase 6 | Dažnai (30–79%) | 1 ligoje |
| CASKcalcium/calmodulin dependent serine protein kinase | Dažnai (30–79%) | 2 ligose |
| CAV1caveolin 1 | Dažnai (30–79%) | 1 ligoje |
| CCDC22CCC complex scaffolding subunit CCDC22 | Dažnai (30–79%) | 1 ligoje |
| CDH11cadherin 11 | Dažnai (30–79%) | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Dažnai (30–79%) | 2 ligose |
| DDB1damage specific DNA binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| DHCR2424-dehydrocholesterol reductase | Dažnai (30–79%) | 2 ligose |
| DPF2double PHD fingers 2 | Dažnai (30–79%) | 1 ligoje |
| DPYDdihydropyrimidine dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| DPYSL5dihydropyrimidinase like 5 | Dažnai (30–79%) | 1 ligoje |
| FAM20CFAM20C golgi associated secretory pathway kinase | Dažnai (30–79%) | 2 ligose |
| FBXO22F-box protein 22 | Dažnai (30–79%) | 1 ligoje |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Dažnai (30–79%) | 1 ligoje |
| FOXG1forkhead box G1 | Dažnai (30–79%) | 1 ligoje |
| FOXP1forkhead box P1 | Dažnai (30–79%) | 2 ligose |
| FUT8fucosyltransferase 8 | Dažnai (30–79%) | 1 ligoje |
| GATA4GATA binding protein 4 | Dažnai (30–79%) | 1 ligoje |
| GJA1gap junction protein alpha 1 | Dažnai (30–79%) | 2 ligose |
| GLI3GLI family zinc finger 3 | Dažnai (30–79%) | 2 ligose |
| GLULglutamate-ammonia ligase | Dažnai (30–79%) | 1 ligoje |
| GNAI1G protein subunit alpha i1 | Dažnai (30–79%) | 1 ligoje |
| GPC3glypican 3 | Dažnai (30–79%) | 2 ligose |
| GPC4glypican 4 | Dažnai (30–79%) | 1 ligoje |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Dažnai (30–79%) | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Dažnai (30–79%) | 1 ligoje |
| KICS2KICSTOR subunit 2 | Dažnai (30–79%) | 1 ligoje |
| KIF7kinesin family member 7 | Dažnai (30–79%) | 1 ligoje |
| MEF2Cmyocyte enhancer factor 2C | Dažnai (30–79%) | 2 ligose |
| MLXIPLMLX interacting protein like | Dažnai (30–79%) | 1 ligoje |
| NCAPG2non-SMC condensin II complex subunit G2 | Dažnai (30–79%) | 1 ligoje |
| NFIXnuclear factor I X | Dažnai (30–79%) | 3 ligose |
| PGAP2post-GPI attachment to proteins 2 | Dažnai (30–79%) | 1 ligoje |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Dažnai (30–79%) | 1 ligoje |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Dažnai (30–79%) | 1 ligoje |
| PLAAphospholipase A2 activating protein | Dažnai (30–79%) | 2 ligose |
| PRMT7protein arginine methyltransferase 7 | Dažnai (30–79%) | 1 ligoje |
| PTCH1patched 1 | Dažnai (30–79%) | 3 ligose |
| PUS1pseudouridine synthase 1 | Dažnai (30–79%) | 1 ligoje |
| RAI1retinoic acid induced 1 | Dažnai (30–79%) | 1 ligoje |
| RECQL4RecQ like helicase 4 | Dažnai (30–79%) | 2 ligose |
| RNF13ring finger protein 13 | Dažnai (30–79%) | 2 ligose |
| SC5Dsterol-C5-desaturase | Dažnai (30–79%) | 2 ligose |
| SLC12A6solute carrier family 12 member 6 | Dažnai (30–79%) | 1 ligoje |
| SLC35D1solute carrier family 35 member D1 | Dažnai (30–79%) | 1 ligoje |
| SMAD2SMAD family member 2 | Dažnai (30–79%) | 1 ligoje |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Dažnai (30–79%) | 1 ligoje |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Dažnai (30–79%) | 1 ligoje |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Dažnai (30–79%) | 1 ligoje |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Dažnai (30–79%) | 1 ligoje |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Dažnai (30–79%) | 1 ligoje |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Dažnai (30–79%) | 1 ligoje |
| SOX11SRY-box transcription factor 11 | Dažnai (30–79%) | 2 ligose |
| SOX4SRY-box transcription factor 4 | Dažnai (30–79%) | 2 ligose |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Dažnai (30–79%) | 2 ligose |
| SPOPspeckle type BTB/POZ protein | Dažnai (30–79%) | 1 ligoje |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Dažnai (30–79%) | 1 ligoje |
| VARS1valyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| VPS35LVPS35 endosomal protein sorting factor like | Dažnai (30–79%) | 1 ligoje |
| WASHC5WASH complex subunit 5 | Dažnai (30–79%) | 1 ligoje |
| YARS2tyrosyl-tRNA synthetase 2 | Dažnai (30–79%) | 1 ligoje |
| ZNF462zinc finger protein 462 | Dažnai (30–79%) | 2 ligose |
| ABCC8ATP binding cassette subfamily C member 8 | Kartais (5–29%) | 1 ligoje |
| ABCD1ATP binding cassette subfamily D member 1 | Kartais (5–29%) | 1 ligoje |
| ADAT3adenosine deaminase tRNA specific 3 | Kartais (5–29%) | 1 ligoje |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Kartais (5–29%) | 2 ligose |
| APCAPC regulator of Wnt signaling pathway | Kartais (5–29%) | 1 ligoje |
| ATAD3AATPase family AAA domain containing 3A | Kartais (5–29%) | 2 ligose |
| ATXN7L3ataxin 7 like 3 | Kartais (5–29%) | 1 ligoje |
| B3GLCTbeta 3-glucosyltransferase | Kartais (5–29%) | 1 ligoje |
| BCAP31B cell receptor associated protein 31 | Kartais (5–29%) | 1 ligoje |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Kartais (5–29%) | 1 ligoje |
| CDONcell adhesion associated, oncogene regulated | Kartais (5–29%) | 1 ligoje |
| CHSY1chondroitin sulfate synthase 1 | Kartais (5–29%) | 1 ligoje |
| CNTNAP2contactin associated protein 2 | Kartais (5–29%) | 1 ligoje |
| COG8component of oligomeric golgi complex 8 | Kartais (5–29%) | 1 ligoje |
| COX7Bcytochrome c oxidase subunit 7B | Kartais (5–29%) | 1 ligoje |
| CRIPTOcripto, EGF-CFC family member | Kartais (5–29%) | 1 ligoje |
| CTCFCCCTC-binding factor | Kartais (5–29%) | 1 ligoje |
| DISP1dispatched RND transporter family member 1 | Kartais (5–29%) | 1 ligoje |
| DLL1delta like canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Kartais (5–29%) | 2 ligose |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Kartais (5–29%) | 1 ligoje |
| FAR1fatty acyl-CoA reductase 1 | Kartais (5–29%) | 1 ligoje |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| FGF8fibroblast growth factor 8 | Kartais (5–29%) | 1 ligoje |
| FOXH1forkhead box H1 | Kartais (5–29%) | 1 ligoje |
| FRYLFRY like transcription coactivator | Kartais (5–29%) | 1 ligoje |
| GAS1growth arrest specific 1 | Kartais (5–29%) | 1 ligoje |
| GLI2GLI family zinc finger 2 | Kartais (5–29%) | 2 ligose |
| GNB2G protein subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| GPC6glypican 6 | Kartais (5–29%) | 2 ligose |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Kartais (5–29%) | 2 ligose |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Kartais (5–29%) | 1 ligoje |
| INTS1integrator complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Kartais (5–29%) | 1 ligoje |
| KMT2Alysine methyltransferase 2A | Kartais (5–29%) | 1 ligoje |
| LMNB1lamin B1 | Kartais (5–29%) | 1 ligoje |
| LRP4LDL receptor related protein 4 | Kartais (5–29%) | 1 ligoje |
| MADDMAP kinase activating death domain | Kartais (5–29%) | 2 ligose |
| MED13Lmediator complex subunit 13L | Kartais (5–29%) | 1 ligoje |
| MPLKIPM-phase specific PLK1 interacting protein | Kartais (5–29%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Kartais (5–29%) | 1 ligoje |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Kartais (5–29%) | 1 ligoje |
| NODALnodal growth differentiation factor | Kartais (5–29%) | 1 ligoje |
| NRCAMneuronal cell adhesion molecule | Kartais (5–29%) | 1 ligoje |
| PDGFRBplatelet derived growth factor receptor beta | Kartais (5–29%) | 1 ligoje |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Kartais (5–29%) | 2 ligose |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Kartais (5–29%) | 1 ligoje |
| POLA1DNA polymerase alpha 1, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| PORcytochrome p450 oxidoreductase | Kartais (5–29%) | 1 ligoje |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Kartais (5–29%) | 1 ligoje |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Kartais (5–29%) | 1 ligoje |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Kartais (5–29%) | 1 ligoje |
| PTENphosphatase and tensin homolog | Kartais (5–29%) | 3 ligose |
| PURApurine rich element binding protein A | Kartais (5–29%) | 1 ligoje |
| RBMXRNA binding motif protein X-linked | Kartais (5–29%) | 1 ligoje |
| RFX7regulatory factor X7 | Kartais (5–29%) | 1 ligoje |
| SATB2SATB homeobox 2 | Kartais (5–29%) | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Kartais (5–29%) | 1 ligoje |
| SHHsonic hedgehog signaling molecule | Kartais (5–29%) | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Kartais (5–29%) | 1 ligoje |
| SIX3SIX homeobox 3 | Kartais (5–29%) | 1 ligoje |
| SLC2A10solute carrier family 2 member 10 | Kartais (5–29%) | 1 ligoje |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Kartais (5–29%) | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Kartais (5–29%) | 1 ligoje |
| SYT1synaptotagmin 1 | Kartais (5–29%) | 2 ligose |
| TCTN2tectonic family member 2 | Kartais (5–29%) | 1 ligoje |
| TGIF1TGFB induced factor homeobox 1 | Kartais (5–29%) | 1 ligoje |
| TONSLtonsoku like, DNA repair protein | Kartais (5–29%) | 2 ligose |
| TRIOtrio Rho guanine nucleotide exchange factor | Kartais (5–29%) | 2 ligose |
| TRIP12thyroid hormone receptor interactor 12 | Kartais (5–29%) | 1 ligoje |
| TRMT10AtRNA methyltransferase 10A | Kartais (5–29%) | 1 ligoje |
| TXNL4Athioredoxin like 4A | Kartais (5–29%) | 1 ligoje |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Kartais (5–29%) | 1 ligoje |
| WACWW domain containing adaptor with coiled-coil | Kartais (5–29%) | 1 ligoje |
| WNT7AWnt family member 7A | Kartais (5–29%) | 1 ligoje |
| ZIC2Zic family zinc finger 2 | 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 |
| EBF3EBF transcription factor 3 | Retai (1–4 %) | 1 ligoje |
| HEPACAMhepatic and glial cell adhesion molecule | Retai (1–4 %) | 1 ligoje |
| MED16mediator complex subunit 16 | Retai (1–4 %) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Retai (1–4 %) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Neužfiksuota | 1 ligoje |
| ACTBactin beta | Neužfiksuota | 1 ligoje |
| AGO1argonaute RISC component 1 | Neužfiksuota | 1 ligoje |
| ATRXATRX chromatin remodeler | Neužfiksuota | 1 ligoje |
| AVParginine vasopressin | Neužfiksuota | 1 ligoje |
| BLTP1bridge-like lipid transfer protein family member 1 | Neužfiksuota | 1 ligoje |
| BMPERBMP binding endothelial regulator | Neužfiksuota | 1 ligoje |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Neužfiksuota | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Neužfiksuota | 1 ligoje |
| CANT1calcium activated nucleotidase 1 | Neužfiksuota | 1 ligoje |
| CDCA7cell division cycle associated 7 | Neužfiksuota | 1 ligoje |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Neužfiksuota | 1 ligoje |
| COG7component of oligomeric golgi complex 7 | Neužfiksuota | 1 ligoje |
| DDR2discoidin domain receptor tyrosine kinase 2 | Neužfiksuota | 1 ligoje |
| EDAectodysplasin A | Neužfiksuota | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Neužfiksuota | 1 ligoje |
| FLNBfilamin B | Neužfiksuota | 2 ligose |
| GBA1glucosylceramidase beta 1 | Neužfiksuota | 1 ligoje |
| GGCXgamma-glutamyl carboxylase | Neužfiksuota | 1 ligoje |
| GMNNgeminin DNA replication inhibitor | Neužfiksuota | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Neužfiksuota | 1 ligoje |
| HSPA9heat shock protein family A (Hsp70) member 9 | Neužfiksuota | 1 ligoje |
| IL1RAPL1interleukin 1 receptor accessory protein like 1 | Neužfiksuota | 1 ligoje |
| LIFRLIF receptor subunit alpha | Neužfiksuota | 1 ligoje |
| MBD5methyl-CpG binding domain protein 5 | Neužfiksuota | 1 ligoje |
| MOCS1molybdenum cofactor synthesis 1 | Neužfiksuota | 1 ligoje |
| MOCS2molybdenum cofactor synthesis 2 | Neužfiksuota | 1 ligoje |
| NFIAnuclear factor I A | Neužfiksuota | 1 ligoje |
| NPR2natriuretic peptide receptor 2 | Neužfiksuota | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Neužfiksuota | 1 ligoje |
| PAM16presequence translocase associated motor 16 | Neužfiksuota | 1 ligoje |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| PEPDpeptidase D | Neužfiksuota | 1 ligoje |
| PEX6peroxisomal biogenesis factor 6 | Neužfiksuota | 1 ligoje |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Neužfiksuota | 1 ligoje |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Neužfiksuota | 1 ligoje |
| PLA2G6phospholipase A2 group VI | Neužfiksuota | 1 ligoje |
| POU1F1POU class 1 homeobox 1 | Neužfiksuota | 1 ligoje |
| PUF60poly(U) binding splicing factor 60 | Neužfiksuota | 1 ligoje |
| PYCR2pyrroline-5-carboxylate reductase 2 | Neužfiksuota | 1 ligoje |
| RPS7ribosomal protein S7 | Neužfiksuota | 1 ligoje |
| SLC25A24solute carrier family 25 member 24 | Neužfiksuota | 1 ligoje |
| SMOsmoothened, frizzled class receptor | Neužfiksuota | 1 ligoje |
| SMOC1SPARC related modular calcium binding 1 | Neužfiksuota | 1 ligoje |
| STAMBPSTAM binding protein | Neužfiksuota | 1 ligoje |
| TAPT1transmembrane anterior posterior transformation 1 | Neužfiksuota | 1 ligoje |
| TBL1XR1TBL1X/Y related 1 | Neužfiksuota | 1 ligoje |
| TCF20transcription factor 20 | Neužfiksuota | 1 ligoje |
| TRRAPtransformation/transcription domain associated protein | Neužfiksuota | 1 ligoje |
| UBE3Bubiquitin protein ligase E3B | Neužfiksuota | 1 ligoje |
| ZBTB24zinc finger and BTB domain containing 24 | Neužfiksuota | 1 ligoje |
| ZSWIM6zinc finger SWIM-type containing 6 | 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.
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- 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.
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