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Træk
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.
Resumé
- Også kaldet
- Decreased length of nose, Shortened nose, Small nose, Hypoplastic nose, Nasal hypoplasia
- Kropssystem
- Abnormality of head or neck
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Log indSpørgKom i gangfra 449 $
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/short-nose.json"
page <- fromJSON(url)
page$trait$nameShort noseHP:0003196
Hvem vi hjælperVores videnskabProdukterResultater
Log indSpørgKom i gangfra 449 $
Læs de gener, der er knyttet til Short nose, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test337 gener knyttet til Short nose
Ændringer i disse gener forårsager sjældne tilstande, hvor Short nose ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Altid | I 1 tilstand |
| ANTXR1ANTXR cell adhesion molecule 1 | Altid | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Altid | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Altid | I 2 tilstande |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Altid | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Altid | I 1 tilstand |
| CEP57centrosomal protein 57 | Altid | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Altid | I 2 tilstande |
| CILK1ciliogenesis associated kinase 1 | Altid | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Altid | I 3 tilstande |
| COL11A2collagen type XI alpha 2 chain | Altid | I 1 tilstand |
| DCPSdecapping enzyme, scavenger | Altid | I 1 tilstand |
| DNMT3BDNA methyltransferase 3 beta | Altid | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Altid | I 3 tilstande |
| DVL3dishevelled segment polarity protein 3 | Altid | I 2 tilstande |
| ECE1endothelin converting enzyme 1 | Altid | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Altid | I 2 tilstande |
| FGFR1fibroblast growth factor receptor 1 | Altid | I 5 tilstande |
| GTF3C3general transcription factor IIIC subunit 3 | Altid | I 1 tilstand |
| HOXB1homeobox B1 | Altid | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| INPPL1inositol polyphosphate phosphatase like 1 | Altid | I 2 tilstande |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| KDM6Alysine demethylase 6A | Altid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Altid | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Altid | I 4 tilstande |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Altid | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Altid | I 2 tilstande |
| MAP2K2mitogen-activated protein kinase kinase 2 | Altid | I 2 tilstande |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| MIR140microRNA 140 | Altid | I 1 tilstand |
| MN1MN1 proto-oncogene, transcriptional regulator | Altid | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Altid | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Altid | I 1 tilstand |
| MYH3myosin heavy chain 3 | Altid | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Altid | I 1 tilstand |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Altid | I 1 tilstand |
| PAK3p21 (RAC1) activated kinase 3 | Altid | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Altid | I 3 tilstande |
Vis 297 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| PGAP3post-GPI attachment to proteins phospholipase 3 | Altid | I 1 tilstand |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Altid | I 1 tilstand |
| PLCB3phospholipase C beta 3 | Altid | I 1 tilstand |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Altid | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Altid | I 2 tilstande |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Altid | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Altid | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Altid | I 2 tilstande |
| RAC3Rac family small GTPase 3 | Altid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Altid | I 1 tilstand |
| RIPK4receptor interacting serine/threonine kinase 4 | Altid | I 2 tilstande |
| ROR2ROR family WNT receptor 2 | Altid | I 2 tilstande |
| RPS6KA3ribosomal protein S6 kinase A3 | Altid | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Altid | I 2 tilstande |
| SLC13A1solute carrier family 13 member 1 | Altid | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Altid | I 2 tilstande |
| SONSON DNA and RNA binding protein | Altid | I 2 tilstande |
| TMCO1transmembrane and coiled-coil domains 1 | Altid | I 2 tilstande |
| TOP2BDNA topoisomerase II beta | Altid | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Altid | I 3 tilstande |
| VPS53VPS53 subunit of GARP complex | Altid | I 1 tilstand |
| WNT5AWnt family member 5A | Altid | I 2 tilstande |
| ZMPSTE24zinc metallopeptidase STE24 | Altid | I 2 tilstande |
| ZPR1ZPR1 zinc finger | Altid | I 1 tilstand |
| ADSLadenylosuccinate lyase | Meget ofte (80–99 %) | I 2 tilstande |
| AGAaspartylglucosaminidase | Meget ofte (80–99 %) | I 1 tilstand |
| ARSLarylsulfatase L | Meget ofte (80–99 %) | I 2 tilstande |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Meget ofte (80–99 %) | I 2 tilstande |
| ATP6V1AATPase H+ transporting V1 subunit A | Meget ofte (80–99 %) | I 1 tilstand |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Meget ofte (80–99 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Meget ofte (80–99 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Meget ofte (80–99 %) | I 2 tilstande |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Meget ofte (80–99 %) | I 1 tilstand |
| CD96CD96 molecule | Meget ofte (80–99 %) | I 2 tilstande |
| CLIP2CAP-Gly domain containing linker protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Meget ofte (80–99 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Meget ofte (80–99 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Meget ofte (80–99 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Meget ofte (80–99 %) | I 1 tilstand |
| DSEdermatan sulfate epimerase | Meget ofte (80–99 %) | I 2 tilstande |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Meget ofte (80–99 %) | I 2 tilstande |
| EHMT1euchromatic histone lysine methyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Meget ofte (80–99 %) | I 1 tilstand |
| ELNelastin | Meget ofte (80–99 %) | I 2 tilstande |
| FBN1fibrillin 1 | Meget ofte (80–99 %) | I 3 tilstande |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Meget ofte (80–99 %) | I 4 tilstande |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Meget ofte (80–99 %) | I 1 tilstand |
| FLNAfilamin A | Meget ofte (80–99 %) | I 2 tilstande |
| FZD2frizzled class receptor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| GTF2Igeneral transcription factor IIi | Meget ofte (80–99 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| HDAC6histone deacetylase 6 | Meget ofte (80–99 %) | I 2 tilstande |
| HDAC8histone deacetylase 8 | Meget ofte (80–99 %) | I 1 tilstand |
| HIC1HIC ZBTB transcriptional repressor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Meget ofte (80–99 %) | I 1 tilstand |
| LRP2LDL receptor related protein 2 | Meget ofte (80–99 %) | I 2 tilstande |
| LTBP3latent transforming growth factor beta binding protein 3 | Meget ofte (80–99 %) | I 2 tilstande |
| MAFMAF bZIP transcription factor | Meget ofte (80–99 %) | I 2 tilstande |
| MAU2MAU2 sister chromatid cohesion factor | Meget ofte (80–99 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Meget ofte (80–99 %) | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Meget ofte (80–99 %) | I 1 tilstand |
| MYMXmyomixer, myoblast fusion factor | Meget ofte (80–99 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Meget ofte (80–99 %) | I 2 tilstande |
| NIPBLNIPBL cohesin loading factor | Meget ofte (80–99 %) | I 2 tilstande |
| NXNnucleoredoxin | Meget ofte (80–99 %) | I 2 tilstande |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PAX3paired box 3 | Meget ofte (80–99 %) | I 3 tilstande |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Meget ofte (80–99 %) | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Meget ofte (80–99 %) | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Meget ofte (80–99 %) | I 1 tilstand |
| RAB18RAB18, member RAS oncogene family | Meget ofte (80–99 %) | I 2 tilstande |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Meget ofte (80–99 %) | I 2 tilstande |
| RFC2replication factor C subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Meget ofte (80–99 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Meget ofte (80–99 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Meget ofte (80–99 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Meget ofte (80–99 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM94transmembrane protein 94 | Meget ofte (80–99 %) | I 1 tilstand |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Meget ofte (80–99 %) | I 1 tilstand |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Meget ofte (80–99 %) | I 2 tilstande |
| ZNHIT3zinc finger HIT-type containing 3 | Meget ofte (80–99 %) | I 2 tilstande |
| ADAMTSL2ADAMTS like 2 | Ofte (30–79 %) | I 2 tilstande |
| ADNPactivity dependent neuroprotector homeobox | Ofte (30–79 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Ofte (30–79 %) | I 2 tilstande |
| ARID1AAT-rich interaction domain 1A | Ofte (30–79 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ofte (30–79 %) | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Ofte (30–79 %) | I 2 tilstande |
| ASXL3ASXL transcriptional regulator 3 | Ofte (30–79 %) | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Ofte (30–79 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 2 tilstande |
| CAV1caveolin 1 | Ofte (30–79 %) | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Ofte (30–79 %) | I 1 tilstand |
| CDH11cadherin 11 | Ofte (30–79 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Ofte (30–79 %) | I 2 tilstande |
| DDB1damage specific DNA binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Ofte (30–79 %) | I 2 tilstande |
| DPF2double PHD fingers 2 | Ofte (30–79 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Ofte (30–79 %) | I 1 tilstand |
| FAM20CFAM20C golgi associated secretory pathway kinase | Ofte (30–79 %) | I 2 tilstande |
| FBXO22F-box protein 22 | Ofte (30–79 %) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Ofte (30–79 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Ofte (30–79 %) | I 1 tilstand |
| FOXP1forkhead box P1 | Ofte (30–79 %) | I 2 tilstande |
| FUT8fucosyltransferase 8 | Ofte (30–79 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ofte (30–79 %) | I 2 tilstande |
| GLI3GLI family zinc finger 3 | Ofte (30–79 %) | I 2 tilstande |
| GLULglutamate-ammonia ligase | Ofte (30–79 %) | I 1 tilstand |
| GNAI1G protein subunit alpha i1 | Ofte (30–79 %) | I 1 tilstand |
| GPC3glypican 3 | Ofte (30–79 %) | I 2 tilstande |
| GPC4glypican 4 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ofte (30–79 %) | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| KICS2KICSTOR subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Ofte (30–79 %) | I 1 tilstand |
| MEF2Cmyocyte enhancer factor 2C | Ofte (30–79 %) | I 2 tilstande |
| MLXIPLMLX interacting protein like | Ofte (30–79 %) | I 1 tilstand |
| NCAPG2non-SMC condensin II complex subunit G2 | Ofte (30–79 %) | I 1 tilstand |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 3 tilstande |
| PGAP2post-GPI attachment to proteins 2 | Ofte (30–79 %) | I 1 tilstand |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Ofte (30–79 %) | I 1 tilstand |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Ofte (30–79 %) | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Ofte (30–79 %) | I 2 tilstande |
| PRMT7protein arginine methyltransferase 7 | Ofte (30–79 %) | I 1 tilstand |
| PTCH1patched 1 | Ofte (30–79 %) | I 3 tilstande |
| PUS1pseudouridine synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Ofte (30–79 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Ofte (30–79 %) | I 2 tilstande |
| RNF13ring finger protein 13 | Ofte (30–79 %) | I 2 tilstande |
| SC5Dsterol-C5-desaturase | Ofte (30–79 %) | I 2 tilstande |
| SLC12A6solute carrier family 12 member 6 | Ofte (30–79 %) | I 1 tilstand |
| SLC35D1solute carrier family 35 member D1 | Ofte (30–79 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Ofte (30–79 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Ofte (30–79 %) | I 1 tilstand |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Ofte (30–79 %) | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ofte (30–79 %) | I 1 tilstand |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Ofte (30–79 %) | I 1 tilstand |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Ofte (30–79 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Ofte (30–79 %) | I 1 tilstand |
| SOX11SRY-box transcription factor 11 | Ofte (30–79 %) | I 2 tilstande |
| SOX4SRY-box transcription factor 4 | Ofte (30–79 %) | I 2 tilstande |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Ofte (30–79 %) | I 2 tilstande |
| SPOPspeckle type BTB/POZ protein | Ofte (30–79 %) | I 1 tilstand |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Ofte (30–79 %) | I 1 tilstand |
| VARS1valyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| VPS35LVPS35 endosomal protein sorting factor like | Ofte (30–79 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| YARS2tyrosyl-tRNA synthetase 2 | Ofte (30–79 %) | I 1 tilstand |
| ZNF462zinc finger protein 462 | Ofte (30–79 %) | I 2 tilstande |
| ABCC8ATP binding cassette subfamily C member 8 | Nogle gange (5–29 %) | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Nogle gange (5–29 %) | I 2 tilstande |
| APCAPC regulator of Wnt signaling pathway | Nogle gange (5–29 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Nogle gange (5–29 %) | I 2 tilstande |
| ATXN7L3ataxin 7 like 3 | Nogle gange (5–29 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| BCAP31B cell receptor associated protein 31 | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Nogle gange (5–29 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Nogle gange (5–29 %) | I 1 tilstand |
| CHSY1chondroitin sulfate synthase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| COG8component of oligomeric golgi complex 8 | Nogle gange (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Nogle gange (5–29 %) | I 1 tilstand |
| CRIPTOcripto, EGF-CFC family member | Nogle gange (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Nogle gange (5–29 %) | I 1 tilstand |
| DISP1dispatched RND transporter family member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DLL1delta like canonical Notch ligand 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Nogle gange (5–29 %) | I 2 tilstande |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Nogle gange (5–29 %) | I 1 tilstand |
| FAR1fatty acyl-CoA reductase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXH1forkhead box H1 | Nogle gange (5–29 %) | I 1 tilstand |
| FRYLFRY like transcription coactivator | Nogle gange (5–29 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Nogle gange (5–29 %) | I 2 tilstande |
| GNB2G protein subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GPC6glypican 6 | Nogle gange (5–29 %) | I 2 tilstande |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Nogle gange (5–29 %) | I 2 tilstande |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| INTS1integrator complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| KMT2Alysine methyltransferase 2A | Nogle gange (5–29 %) | I 1 tilstand |
| LMNB1lamin B1 | Nogle gange (5–29 %) | I 1 tilstand |
| LRP4LDL receptor related protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Nogle gange (5–29 %) | I 2 tilstande |
| MED13Lmediator complex subunit 13L | Nogle gange (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Nogle gange (5–29 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Nogle gange (5–29 %) | I 1 tilstand |
| NRCAMneuronal cell adhesion molecule | Nogle gange (5–29 %) | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Nogle gange (5–29 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Nogle gange (5–29 %) | I 2 tilstande |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Nogle gange (5–29 %) | I 1 tilstand |
| POLA1DNA polymerase alpha 1, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Nogle gange (5–29 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Nogle gange (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Nogle gange (5–29 %) | I 3 tilstande |
| PURApurine rich element binding protein A | Nogle gange (5–29 %) | I 1 tilstand |
| RBMXRNA binding motif protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Nogle gange (5–29 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Nogle gange (5–29 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Nogle gange (5–29 %) | I 1 tilstand |
| SIX3SIX homeobox 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Nogle gange (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Nogle gange (5–29 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Nogle gange (5–29 %) | I 1 tilstand |
| SYT1synaptotagmin 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TCTN2tectonic family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Nogle gange (5–29 %) | I 2 tilstande |
| TRIOtrio Rho guanine nucleotide exchange factor | Nogle gange (5–29 %) | I 2 tilstande |
| TRIP12thyroid hormone receptor interactor 12 | Nogle gange (5–29 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Nogle gange (5–29 %) | I 1 tilstand |
| TXNL4Athioredoxin like 4A | Nogle gange (5–29 %) | I 1 tilstand |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Nogle gange (5–29 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Nogle gange (5–29 %) | I 1 tilstand |
| WNT7AWnt family member 7A | Nogle gange (5–29 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZMYM2zinc finger MYM-type containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Sjældent (1–4%) | I 1 tilstand |
| HEPACAMhepatic and glial cell adhesion molecule | Sjældent (1–4%) | I 1 tilstand |
| MED16mediator complex subunit 16 | Sjældent (1–4%) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Sjældent (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjældent (1–4%) | I 1 tilstand |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Ikke registreret | I 1 tilstand |
| ACTBactin beta | Ikke registreret | I 1 tilstand |
| AGO1argonaute RISC component 1 | Ikke registreret | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registreret | I 1 tilstand |
| AVParginine vasopressin | Ikke registreret | I 1 tilstand |
| BLTP1bridge-like lipid transfer protein family member 1 | Ikke registreret | I 1 tilstand |
| BMPERBMP binding endothelial regulator | Ikke registreret | I 1 tilstand |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Ikke registreret | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ikke registreret | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Ikke registreret | I 1 tilstand |
| CDCA7cell division cycle associated 7 | Ikke registreret | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Ikke registreret | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Ikke registreret | I 1 tilstand |
| DDR2discoidin domain receptor tyrosine kinase 2 | Ikke registreret | I 1 tilstand |
| EDAectodysplasin A | Ikke registreret | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Ikke registreret | I 1 tilstand |
| FLNBfilamin B | Ikke registreret | I 2 tilstande |
| GBA1glucosylceramidase beta 1 | Ikke registreret | I 1 tilstand |
| GGCXgamma-glutamyl carboxylase | Ikke registreret | I 1 tilstand |
| GMNNgeminin DNA replication inhibitor | Ikke registreret | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Ikke registreret | I 1 tilstand |
| HSPA9heat shock protein family A (Hsp70) member 9 | Ikke registreret | I 1 tilstand |
| IL1RAPL1interleukin 1 receptor accessory protein like 1 | Ikke registreret | I 1 tilstand |
| LIFRLIF receptor subunit alpha | Ikke registreret | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Ikke registreret | I 1 tilstand |
| MOCS1molybdenum cofactor synthesis 1 | Ikke registreret | I 1 tilstand |
| MOCS2molybdenum cofactor synthesis 2 | Ikke registreret | I 1 tilstand |
| NFIAnuclear factor I A | Ikke registreret | I 1 tilstand |
| NPR2natriuretic peptide receptor 2 | Ikke registreret | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Ikke registreret | I 1 tilstand |
| PAM16presequence translocase associated motor 16 | Ikke registreret | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| PEPDpeptidase D | Ikke registreret | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Ikke registreret | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ikke registreret | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Ikke registreret | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ikke registreret | I 1 tilstand |
| POU1F1POU class 1 homeobox 1 | Ikke registreret | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Ikke registreret | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Ikke registreret | I 1 tilstand |
| RPS7ribosomal protein S7 | Ikke registreret | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Ikke registreret | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Ikke registreret | I 1 tilstand |
| SMOC1SPARC related modular calcium binding 1 | Ikke registreret | I 1 tilstand |
| STAMBPSTAM binding protein | Ikke registreret | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registreret | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Ikke registreret | I 1 tilstand |
| TCF20transcription factor 20 | Ikke registreret | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Ikke registreret | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Ikke registreret | I 1 tilstand |
| ZBTB24zinc finger and BTB domain containing 24 | Ikke registreret | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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